Intellectual disability

Symptom Information:

Symptom ID: HPO:0001249
Synonyms:
Dull intelligence [HPO:0001249]
Low intelligence [HPO:0001249]
Mental deficiency [HPO:0001249]
Mental retardation [HPO:0001249]
Mental retardation, nonspecific [HPO:0001249]
Mental-retardation [HPO:0001249]
Nonprogressive intellectual disability [HPO:0001249]
Nonprogressive mental retardation [HPO:0001249]
Poor school performance [HPO:0001249]
Mental disability [Orphanet:43510]
Psychomotor retardation [Orphanet:43510]
Mental retardation (disorder) [Orphanet:43510]
Intellectual functioning disability (finding) [Orphanet:43510]
Motor retardation (finding) [Orphanet:43510]
Mental Retardation [Orphanet:43510]
Motor retardation [Orphanet:43510]
Psychomotor Impairment [Orphanet:43510]
Dull intelligence [OMIM:Dull intelligence]
Intellectual disability [OMIM:Intellectual disability]
Low intelligence [OMIM:Low intelligence]
Mental deficiency [OMIM:Mental deficiency]
Mental retardation [OMIM:Mental retardation]
Mental retardation, nonspecific [OMIM:Mental retardation, nonspecific]
Mental-retardation [OMIM:Mental-retardation]
Nonprogressive mental retardation [OMIM:Nonprogressive mental retardation]
Poor school performance [OMIM:Poor school performance]
Intellectual deficit/mental/psychomotor retardation/learning disability [Orphanet:43510]
Mental retardation [Orphanet:43510]
Mental retardation [MedDRA:10027378]
Deficiency mental [MedDRA:10027378]
Educationally subnormal [MedDRA:10027378]
Feeble-minded [MedDRA:10027378]
Mental deficiency [MedDRA:10027378]
Mental handicap NOS [MedDRA:10027378]
Mental retardation severity unspecified [MedDRA:10027378]
Oligophrenia [MedDRA:10027378]
Other specified mental retardation [MedDRA:10027378]
Retardation mental [MedDRA:10027378]
Unspecified mental retardation [MedDRA:10027378]
Psychomotor retardation [MedDRA:10037213]
Intellectual disabilities (in 1 family) [OMIM:Intellectual disabilities (in 1 family)]
Intellectual disability (1 family) [OMIM:Intellectual disability (1 family)]
Intellectual disability (in most patients) [OMIM:Intellectual disability (in most patients)]
Intellectual disability (in some patients) [OMIM:Intellectual disability (in some patients)]
Mental retardation (1 family) [OMIM:Mental retardation (1 family)]
Mental retardation (1 patient) [OMIM:Mental retardation (1 patient)]
Mental retardation (15%) [OMIM:Mental retardation (15%)]
Mental retardation (18% of patients) [OMIM:Mental retardation (18% of patients)]
Mental retardation (2 patients) [OMIM:Mental retardation (2 patients)]
Mental retardation (2/3 patients) [OMIM:Mental retardation (2/3 patients)]
Mental retardation (20%) [OMIM:Mental retardation (20%)]
Mental retardation (25%) [OMIM:Mental retardation (25%)]
Mental retardation (3 patients) [OMIM:Mental retardation (3 patients)]
Mental retardation (30%) [OMIM:Mental retardation (30%)]
Mental retardation (31%) [OMIM:Mental retardation (31%)]
Mental retardation (38%) [OMIM:Mental retardation (38%)]
Mental retardation (47%) [OMIM:Mental retardation (47%)]
Mental retardation (50% patients) [OMIM:Mental retardation (50% patients)]
Mental retardation (6%) [OMIM:Mental retardation (6%)]
Mental retardation (7%) [OMIM:Mental retardation (7%)]
Mental retardation (70%) [OMIM:Mental retardation (70%)]
Mental retardation (CVS+) [OMIM:Mental retardation (CVS+)]
Mental retardation (IQ 20-78) [OMIM:Mental retardation (IQ 20-78)]
Mental retardation (IQ 24-85) (variable) [OMIM:Mental retardation (IQ 24-85) (variable)]
Mental retardation (IQ 45-75) [OMIM:Mental retardation (IQ 45-75)]
Mental retardation (IQ 50-60 combined Griffiths and Stanford-Binet scale) [OMIM:Mental retardation (IQ 50-60 combined Griffiths and Stanford-Binet scale)]
Mental retardation (about 40%) [OMIM:Mental retardation (about 40%)]
Mental retardation (average IQ 51) [OMIM:Mental retardation (average IQ 51)]
Mental retardation (average IQ 56) [OMIM:Mental retardation (average IQ 56)]
Mental retardation (classic feature) [OMIM:Mental retardation (classic feature)]
Mental retardation (develops later) [OMIM:Mental retardation (develops later)]
Mental retardation (early-onset form) [OMIM:Mental retardation (early-onset form)]
Mental retardation (if left untreated) [OMIM:Mental retardation (if left untreated)]
Mental retardation (if untreated in infancy) [OMIM:Mental retardation (if untreated in infancy)]
Mental retardation (if untreated) [OMIM:Mental retardation (if untreated)]
Mental retardation (in 2 of 6 patients) [OMIM:Mental retardation (in 2 of 6 patients)]
Mental retardation (in a subset of patients) [OMIM:Mental retardation (in a subset of patients)]
Mental retardation (in males) [OMIM:Mental retardation (in males)]
Mental retardation (in most patients) [OMIM:Mental retardation (in most patients)]
Mental retardation (in most) [OMIM:Mental retardation (in most)]
Mental retardation (in one patient) [OMIM:Mental retardation (in one patient)]
Mental retardation (in some cases) [OMIM:Mental retardation (in some cases)]
Mental retardation (in some patients) [OMIM:Mental retardation (in some patients)]
Mental retardation (in some) [OMIM:Mental retardation (in some)]
Mental retardation (in type IIA) [OMIM:Mental retardation (in type IIA)]
Mental retardation (less common) [OMIM:Mental retardation (less common)]
Mental retardation (males) [OMIM:Mental retardation (males)]
Mental retardation (mild to moderate) [OMIM:Mental retardation (mild to moderate)]
Mental retardation (moderate to severe in males) [OMIM:Mental retardation (moderate to severe in males)]
Mental retardation (one patient) [OMIM:Mental retardation (one patient)]
Mental retardation (one-third) [OMIM:Mental retardation (one-third)]
Mental retardation (profound) [OMIM:Mental retardation (profound)]
Mental retardation (range mild to severe) [OMIM:Mental retardation (range mild to severe)]
Mental retardation (rare less than 1% of cases) [OMIM:Mental retardation (rare less than 1% of cases)]
Mental retardation (rare) [OMIM:Mental retardation (rare)]
Mental retardation (rarely noted) [OMIM:Mental retardation (rarely noted)]
Mental retardation (reported in 1 family) [OMIM:Mental retardation (reported in 1 family)]
Mental retardation (reported in 1 patient) [OMIM:Mental retardation (reported in 1 patient)]
Mental retardation (secondary to intracranial bleed) [OMIM:Mental retardation (secondary to intracranial bleed)]
Mental retardation (seen in HHS variant) [OMIM:Mental retardation (seen in HHS variant)]
Mental retardation (some) [OMIM:Mental retardation (some)]
Mental retardation (sometimes) [OMIM:Mental retardation (sometimes)]
Mental retardation (type I) [OMIM:Mental retardation (type I)]
Mental retardation (uncommon) [OMIM:Mental retardation (uncommon)]
Mental retardation (untreated hypothyroidism) [OMIM:Mental retardation (untreated hypothyroidism)]
Mental retardation (variable expression) [OMIM:Mental retardation (variable expression)]
Mental retardation, [OMIM:Mental retardation,]
Mental retardation. [OMIM:Mental retardation.]
Oligophrenia [OMIM:Oligophrenia]
Psychomotor retardation (2/4 patients) [OMIM:Psychomotor retardation (2/4 patients)]
Psychomotor retardation (in 1 patient) [OMIM:Psychomotor retardation (in 1 patient)]
Psychomotor retardation (in some patients) [OMIM:Psychomotor retardation (in some patients)]
Mental retardations [MedDRA:10027379]
Mental disability [MedDRA:10027353]
Quality:
Cross references:
HPO:0001263 "Global developmental delay" [Orphanet:43510]
HPO:0001270 "Motor delay" [Orphanet:43510]
Orphanet:43510 "Intellectual deficit/mental/psychomotor retardation/learning disability" [Orphanet:43510]
OMIM: "Dull intelligence" [OMIM:Dull intelligence]
OMIM: "Intellectual disability" [OMIM:Intellectual disability]
OMIM: "Low intelligence" [OMIM:Low intelligence]
OMIM: "Mental deficiency" [OMIM:Mental deficiency]
OMIM: "Mental retardation" [OMIM:Mental retardation]
OMIM: "Mental retardation, nonspecific" [OMIM:Mental retardation, nonspecific]
OMIM: "Mental-retardation" [OMIM:Mental-retardation]
OMIM: "Nonprogressive mental retardation" [OMIM:Nonprogressive mental retardation]
OMIM: "Poor school performance" [OMIM:Poor school performance]
OMIM: "Intellectual disabilities (in 1 family)" [OMIM:Intellectual disabilities (in 1 family)]
OMIM: "Intellectual disability (1 family)" [OMIM:Intellectual disability (1 family)]
OMIM: "Intellectual disability (in most patients)" [OMIM:Intellectual disability (in most patients)]
OMIM: "Intellectual disability (in some patients)" [OMIM:Intellectual disability (in some patients)]
OMIM: "Mental retardation (1 family)" [OMIM:Mental retardation (1 family)]
OMIM: "Mental retardation (1 patient)" [OMIM:Mental retardation (1 patient)]
OMIM: "Mental retardation (15%)" [OMIM:Mental retardation (15%)]
OMIM: "Mental retardation (18% of patients)" [OMIM:Mental retardation (18% of patients)]
OMIM: "Mental retardation (2 patients)" [OMIM:Mental retardation (2 patients)]
OMIM: "Mental retardation (2/3 patients)" [OMIM:Mental retardation (2/3 patients)]
OMIM: "Mental retardation (20%)" [OMIM:Mental retardation (20%)]
OMIM: "Mental retardation (25%)" [OMIM:Mental retardation (25%)]
OMIM: "Mental retardation (3 patients)" [OMIM:Mental retardation (3 patients)]
OMIM: "Mental retardation (30%)" [OMIM:Mental retardation (30%)]
OMIM: "Mental retardation (31%)" [OMIM:Mental retardation (31%)]
OMIM: "Mental retardation (38%)" [OMIM:Mental retardation (38%)]
OMIM: "Mental retardation (47%)" [OMIM:Mental retardation (47%)]
OMIM: "Mental retardation (50% patients)" [OMIM:Mental retardation (50% patients)]
OMIM: "Mental retardation (6%)" [OMIM:Mental retardation (6%)]
OMIM: "Mental retardation (7%)" [OMIM:Mental retardation (7%)]
OMIM: "Mental retardation (70%)" [OMIM:Mental retardation (70%)]
OMIM: "Mental retardation (CVS+)" [OMIM:Mental retardation (CVS+)]
OMIM: "Mental retardation (IQ 20-78)" [OMIM:Mental retardation (IQ 20-78)]
OMIM: "Mental retardation (IQ 24-85) (variable)" [OMIM:Mental retardation (IQ 24-85) (variable)]
OMIM: "Mental retardation (IQ 45-75)" [OMIM:Mental retardation (IQ 45-75)]
OMIM: "Mental retardation (IQ 50-60 combined Griffiths and Stanford-Binet scale)" [OMIM:Mental retardation (IQ 50-60 combined Griffiths and Stanford-Binet scale)]
OMIM: "Mental retardation (about 40%)" [OMIM:Mental retardation (about 40%)]
OMIM: "Mental retardation (average IQ 51)" [OMIM:Mental retardation (average IQ 51)]
OMIM: "Mental retardation (average IQ 56)" [OMIM:Mental retardation (average IQ 56)]
OMIM: "Mental retardation (classic feature)" [OMIM:Mental retardation (classic feature)]
OMIM: "Mental retardation (develops later)" [OMIM:Mental retardation (develops later)]
OMIM: "Mental retardation (early-onset form)" [OMIM:Mental retardation (early-onset form)]
OMIM: "Mental retardation (if left untreated)" [OMIM:Mental retardation (if left untreated)]
OMIM: "Mental retardation (if untreated in infancy)" [OMIM:Mental retardation (if untreated in infancy)]
OMIM: "Mental retardation (if untreated)" [OMIM:Mental retardation (if untreated)]
OMIM: "Mental retardation (in 2 of 6 patients)" [OMIM:Mental retardation (in 2 of 6 patients)]
OMIM: "Mental retardation (in a subset of patients)" [OMIM:Mental retardation (in a subset of patients)]
OMIM: "Mental retardation (in males)" [OMIM:Mental retardation (in males)]
OMIM: "Mental retardation (in most patients)" [OMIM:Mental retardation (in most patients)]
OMIM: "Mental retardation (in most)" [OMIM:Mental retardation (in most)]
OMIM: "Mental retardation (in one patient)" [OMIM:Mental retardation (in one patient)]
OMIM: "Mental retardation (in some cases)" [OMIM:Mental retardation (in some cases)]
OMIM: "Mental retardation (in some patients)" [OMIM:Mental retardation (in some patients)]
OMIM: "Mental retardation (in some)" [OMIM:Mental retardation (in some)]
OMIM: "Mental retardation (in type IIA)" [OMIM:Mental retardation (in type IIA)]
OMIM: "Mental retardation (less common)" [OMIM:Mental retardation (less common)]
OMIM: "Mental retardation (males)" [OMIM:Mental retardation (males)]
OMIM: "Mental retardation (mild to moderate)" [OMIM:Mental retardation (mild to moderate)]
OMIM: "Mental retardation (moderate to severe in males)" [OMIM:Mental retardation (moderate to severe in males)]
OMIM: "Mental retardation (one patient)" [OMIM:Mental retardation (one patient)]
OMIM: "Mental retardation (one-third)" [OMIM:Mental retardation (one-third)]
OMIM: "Mental retardation (profound)" [OMIM:Mental retardation (profound)]
OMIM: "Mental retardation (range mild to severe)" [OMIM:Mental retardation (range mild to severe)]
OMIM: "Mental retardation (rare less than 1% of cases)" [OMIM:Mental retardation (rare less than 1% of cases)]
OMIM: "Mental retardation (rare)" [OMIM:Mental retardation (rare)]
OMIM: "Mental retardation (rarely noted)" [OMIM:Mental retardation (rarely noted)]
OMIM: "Mental retardation (reported in 1 family)" [OMIM:Mental retardation (reported in 1 family)]
OMIM: "Mental retardation (reported in 1 patient)" [OMIM:Mental retardation (reported in 1 patient)]
OMIM: "Mental retardation (secondary to intracranial bleed)" [OMIM:Mental retardation (secondary to intracranial bleed)]
OMIM: "Mental retardation (seen in HHS variant)" [OMIM:Mental retardation (seen in HHS variant)]
OMIM: "Mental retardation (some)" [OMIM:Mental retardation (some)]
OMIM: "Mental retardation (sometimes)" [OMIM:Mental retardation (sometimes)]
OMIM: "Mental retardation (type I)" [OMIM:Mental retardation (type I)]
OMIM: "Mental retardation (uncommon)" [OMIM:Mental retardation (uncommon)]
OMIM: "Mental retardation (untreated hypothyroidism)" [OMIM:Mental retardation (untreated hypothyroidism)]
OMIM: "Mental retardation (variable expression)" [OMIM:Mental retardation (variable expression)]
OMIM: "Mental retardation," [OMIM:Mental retardation,]
OMIM: "Mental retardation." [OMIM:Mental retardation.]
OMIM: "Oligophrenia" [OMIM:Oligophrenia]
OMIM: "Psychomotor retardation (2/4 patients)" [OMIM:Psychomotor retardation (2/4 patients)]
OMIM: "Psychomotor retardation (in 1 patient)" [OMIM:Psychomotor retardation (in 1 patient)]
OMIM: "Psychomotor retardation (in some patients)" [OMIM:Psychomotor retardation (in some patients)]
UMLS:C0025362 "Mental Retardation" [Orphanet:43510]
UMLS:C0424230 "Motor retardation" [Orphanet:43510]
UMLS:C0679465 "Psychomotor Impairment" [Orphanet:43510]
Is a (Direct Parents):
MedDRA Mental impairment disorders
MedDRA Disability issues
HPO         Cognitive impairment
MedDRA Mood alterations with depressive symptoms
Orphanet Functional anomalies of the nervous system
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the nervous system(HPO:0000707)
          Abnormality of nervous system physiology(HPO:0012638)
             Abnormality of higher mental function(HPO:0011446)
                Cognitive impairment(HPO:0100543)
                   Intellectual disability(HPO:0001249)
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Mental impairment disorders(MedDRA:10057167)
       Intellectual disability(HPO:0001249)
Social circumstances(MedDRA:10041244)
    Lifestyle issues(MedDRA:10024450)
       Disability issues(MedDRA:10057171)
          Intellectual disability(HPO:0001249)
Database Frequency: 1089 / 7739
Resource:

All diseases associated with this symptom:

15q11q13 microduplication syndrome (Orphanet:238446)
15q24 microdeletion syndrome (Orphanet:94065)
16p11.2p12.2 microdeletion syndrome (Orphanet:261211)
17q11 microdeletion syndrome (Orphanet:97685)
17q11.2 microduplication syndrome (Orphanet:139474)
17q12 microdeletion syndrome (Orphanet:261265)
17q12 microduplication syndrome (Orphanet:261272)
19q13.11 microdeletion syndrome (Orphanet:217346)
1p36 deletion syndrome (Orphanet:1606)
1q21.1 microdeletion syndrome (Orphanet:250989)
1q41q42 microdeletion syndrome (Orphanet:250999)
22q11.2 microduplication syndrome (Orphanet:1727)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
2q23.1 microdeletion syndrome (Orphanet:228402)
2q32q33 microdeletion syndrome (Orphanet:251019)
2q37 microdeletion syndrome (Orphanet:1001)
3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
3-@METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT,AND NEUTROPENIA (OMIM:616271)
3-methylglutaconic aciduria type 1 (Orphanet:67046)
3-methylglutaconic aciduria type 3 (Orphanet:67047)
3-methylglutaconic aciduria type 4 (Orphanet:67048)
3-phosphoglycerate dehydrogenase deficiency (Orphanet:79351)
3-phosphoserine phosphatase deficiency (Orphanet:79350)
3MC SYNDROME 2 (OMIM:265050)
3MC SYNDROME 3 (OMIM:248340)
3q29 microdeletion syndrome (Orphanet:65286)
3q29 microduplication (Orphanet:251038)
4-hydroxybutyric aciduria (Orphanet:22)
48,XXYY syndrome (Orphanet:10)
5p13 microduplication syndrome (Orphanet:329802)
6-pyruvoyl-tetrahydropterin synthase deficiency (Orphanet:13)
8q21.11 microdeletion syndrome (Orphanet:284160)
AARSKOG-SCOTT SYNDROME (OMIM:305400)
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
ADAMS-OLIVER SYNDROME 3 (OMIM:614814)
AGENESIS OF CEREBRAL WHITE MATTER (OMIM:202600)
AGONADISM, 46,XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDEDBONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS (OMIM:600908)
AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
ALG2-CDG (Orphanet:79326)
ALOPECIA-MENTAL RETARDATION SYNDROME 2 (OMIM:610422)
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 (OMIM:104290)
AMINO ACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY,OSTEOPOROSIS, AND ACIDOSIS (OMIM:204730)
AMYLOIDOSIS OF GINGIVA AND CONJUNCTIVA, WITH MENTAL RETARDATION (OMIM:204850)
AMYOTROPHIC DYSTONIC PARAPLEGIA (OMIM:105300)
ANE syndrome (Orphanet:157954)
APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIALDYSMORPHISM, AND OTHER CONGENITAL ANOMALIES (OMIM:300887)
ARACHNOID CYSTS, INTRACRANIAL (OMIM:207790)
ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTICFACIES (OMIM:208081)
ASPARAGINE SYNTHETASE (OMIM:108370)
ATAXIA, DEAFNESS, AND CARDIOMYOPATHY (OMIM:208750)
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTICATROPHY AND MENTAL RETARDATION (OMIM:270500)
ATAXIA-MICROCEPHALY-CATARACT SYNDROME (OMIM:208870)
ATONIC-ASTATIC SYNDROME OF FOERSTER (OMIM:209100)
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 (OMIM:170995)
AUTISM (OMIM:209850)
AUTISM, SUSCEPTIBILITY TO, 3 (OMIM:608049)
AUTISM, SUSCEPTIBILITY TO, 8 (OMIM:607373)
AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 (OMIM:300425)
AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 (OMIM:300495)
AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 (OMIM:300496)
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES (OMIM:109120)
Achalasia - microcephaly (Orphanet:929)
Acro-cardio-facial syndrome (Orphanet:2008)
Acro-fronto-facio-nasal dysostosis (Orphanet:1784)
Acrocallosal syndrome (Orphanet:36)
Acrodysostosis with multiple hormone resistance (Orphanet:280651)
Acromelic frontonasal dysplasia (Orphanet:1827)
Adams-Oliver syndrome (Orphanet:974)
Adenylosuccinate lyase deficiency (Orphanet:46)
Adult-onset autosomal recessive cerebellar ataxia (Orphanet:284289)
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia (Orphanet:52055)
Albright hereditary osteodystrophy (Orphanet:665)
Alpha-mannosidosis (Orphanet:61)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 (Orphanet:98791)
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis (Orphanet:86818)
Alström syndrome (Orphanet:64)
Alternating hemiplegia of childhood (Orphanet:2131)
Anauxetic dysplasia (Orphanet:93347)
Angio-osteohypertrophic syndrome (Orphanet:2346)
Aniridia - cerebellar ataxia - intellectual deficit (Orphanet:1065)
Aniridia - renal agenesis - psychomotor retardation (Orphanet:1064)
Antley-Bixler syndrome (Orphanet:83)
Aortic arch anomaly - peculiar facies - intellectual deficit (Orphanet:1110)
Apert syndrome (Orphanet:87)
Aphalangy - syndactyly - microcephaly (Orphanet:1113)
Arginine:glycine amidinotransferase deficiency (Orphanet:35704)
Argininemia (Orphanet:90)
Argininosuccinic aciduria (Orphanet:23)
Arterial tortuosity syndrome (Orphanet:3342)
Aspartylglucosaminuria (Orphanet:93)
Ataxia-deafness-retardation syndrome (Orphanet:1188)
Atkin-Flaitz syndrome (Orphanet:1193)
Autism spectrum disorder-epilepsy-arthrogryposis syndrome (Orphanet:370943)
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (Orphanet:308410)
Autosomal dominant Larsen syndrome (Orphanet:503)
Autosomal dominant Opitz G/BBB syndrome (Orphanet:306588)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant hyperinsulinism due to SUR1 deficiency (Orphanet:276575)
Autosomal dominant nocturnal frontal lobe epilepsy (Orphanet:98784)
Autosomal dominant nonsyndromic intellectual deficit (Orphanet:178469)
Autosomal dominant spastic paraplegia type 3 (Orphanet:100984)
Autosomal dominant spastic paraplegia type 4 (Orphanet:100985)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit (Orphanet:284282)
Autosomal recessive cerebelloparenchymal disorder type 3 (Orphanet:1170)
Autosomal recessive chorioretinopathy-microcephaly (Orphanet:2518)
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (Orphanet:324262)
Autosomal recessive cutis laxa type 2, classic type (Orphanet:357074)
Autosomal recessive cutis laxa type 2A (Orphanet:357058)
Autosomal recessive deafness-onychodystrophy syndrome (Orphanet:79500)
Autosomal recessive distal osteolysis syndrome (Orphanet:2776)
Autosomal recessive facio-digito-genital syndrome (Orphanet:1974)
Autosomal recessive infantile hypercalcemia (Orphanet:300547)
Autosomal recessive limb-girdle muscular dystrophy type 2K (Orphanet:86812)
Autosomal recessive limb-girdle muscular dystrophy type 2M (Orphanet:206554)
Autosomal recessive limb-girdle muscular dystrophy type 2P (Orphanet:280333)
Autosomal recessive nonsyndromic intellectual deficit (Orphanet:88616)
Autosomal recessive primary microcephaly (Orphanet:2512)
Autosomal recessive proximal renal tubular acidosis (Orphanet:93607)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (Orphanet:331176)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (Orphanet:98)
Autosomal recessive spastic paraplegia type 11 (Orphanet:2822)
Autosomal recessive spastic paraplegia type 14 (Orphanet:100995)
Autosomal recessive spastic paraplegia type 15 (Orphanet:100996)
Autosomal recessive spastic paraplegia type 18 (Orphanet:209951)
Autosomal recessive spastic paraplegia type 35 (Orphanet:171629)
Autosomal recessive spastic paraplegia type 45 (Orphanet:320396)
Autosomal recessive spastic paraplegia type 54 (Orphanet:320380)
Autosomal recessive spastic paraplegia type 55 (Orphanet:320375)
BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
BARTTER SYNDROME, ANTENATAL, TYPE 1 (OMIM:601678)
BARTTER SYNDROME, ANTENATAL, TYPE 2 (OMIM:241200)
BARTTER SYNDROME, TYPE 4A (OMIM:602522)
BARTTER SYNDROME, TYPE 4B (OMIM:613090)
BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY,PTOSIS, HEARING LOSS, AND MENTAL RETARDATION (OMIM:613627)
BRESEK syndrome (Orphanet:85284)
Baller-Gerold syndrome (Orphanet:1225)
Bangstad syndrome (Orphanet:1227)
Bannayan-Riley-Ruvalcaba syndrome (Orphanet:109)
Baraitser-Winter syndrome (Orphanet:2995)
Barber-Say syndrome (Orphanet:1231)
Bardet-Biedl syndrome (Orphanet:110)
Bardet-Biedl syndrome 1 (OMIM:209900 )
Bardet-Biedl syndrome 6 (OMIM:605231)
Bardet-Biedl syndrome 7 (OMIM:615984)
Bardet-Biedl syndrome 8 (OMIM:615985)
Bardet-Biedl syndrome 9 (OMIM:615986)
Bartter syndrome (Orphanet:112)
Behr syndrome (Orphanet:1239)
Benign adult familial myoclonic epilepsy (Orphanet:86814)
Berardinelli-Seip congenital lipodystrophy (Orphanet:528)
Beta-mannosidosis (Orphanet:118)
Beta-propeller protein-associated neurodegeneration (Orphanet:329284)
Beta-ureidopropionase deficiency (Orphanet:65287)
Biemond syndrome type 2 (Orphanet:141333)
Bilateral frontal polymicrogyria (Orphanet:208444)
Bilateral frontoparietal polymicrogyria (Orphanet:101070)
Bird headed-dwarfism, Montreal type (Orphanet:2617)
Björnstad syndrome (Orphanet:123)
Blackfan-Diamond anemia (Orphanet:124)
Blepharonasofacial malformation syndrome (Orphanet:1252)
Blepharophimosis-intellectual deficit syndrome, MKB type (Orphanet:293707)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Blepharophimosis-intellectual deficit syndrome, SBBYS type (Orphanet:3047)
Blepharophimosis-intellectual deficit syndrome, Verloes type (Orphanet:293725)
Bloom syndrome (Orphanet:125)
Blue diaper syndrome (Orphanet:94086)
Brachydactyly - nystagmus - cerebellar ataxia (Orphanet:1246)
Brain demyelination due to methionine adenosyltransferase deficiency (Orphanet:168598)
Branchio-skeleto-genital syndrome (Orphanet:1299)
Bullous dystrophy, macular type (Orphanet:1867)
CATARACT, ATAXIA, SHORT STATURE, AND MENTAL RETARDATION (OMIM:300619)
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION (OMIM:601088)
CEPHALIN LIPIDOSIS (OMIM:212800)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME1 (OMIM:224050)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME4 (OMIM:615268)
CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1 (OMIM:603513)
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2 (OMIM:612900)
CHARGE syndrome (Orphanet:138)
CHROMOSOME 15q11.2 DELETION SYNDROME (OMIM:615656)
CHROMOSOME 1p32-p31 DELETION SYNDROME (OMIM:613735)
CHROMOSOME 5q12 DELETION SYNDROME (OMIM:615668)
CHROMOSOME Xp11.22 DUPLICATION SYNDROME (OMIM:300705)
CHROMOSOME Xp22 DELETION SYNDROME (OMIM:300830)
CK syndrome (Orphanet:251383)
CLARK-BARAITSER SYNDROME (OMIM:300602)
CLN1 disease (Orphanet:228329)
CLN3 disease (Orphanet:228346)
CLN5 disease (Orphanet:228360)
CLN9 disease (Orphanet:228357)
COCKAYNE SYNDROME A (OMIM:216400)
COCKAYNE SYNDROME B (OMIM:133540)
COCKAYNE SYNDROME, TYPE III (OMIM:216411)
COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
COFFIN-SIRIS SYNDROME (OMIM:135900)
COG5-CDG (Orphanet:263487)
COG8-CDG (Orphanet:95428)
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
CONE-ROD DYSTROPHY 1 (OMIM:600624)
CONVULSIVE DISORDER, FAMILIAL, WITH PRENATAL OR EARLY ONSET (OMIM:217200)
CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
CORNELIA DE LANGE SYNDROME 3 (OMIM:610759)
CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
CORPUS CALLOSUM, AGENESIS OF (OMIM:217990)
COWDEN SYNDROME 5 (OMIM:615108)
COWDEN SYNDROME 6 (OMIM:615109)
CRANIODIAPHYSEAL DYSPLASIA (OMIM:218300)
CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME (OMIM:218650)
CREE MENTAL RETARDATION SYNDROME (OMIM:606851)
CUTIS VERTICIS GYRATA AND MENTAL RETARDATION (OMIM:219300)
CUTIS VERTICIS GYRATA, RETINITIS PIGMENTOSA, AND SENSORINEURAL DEAFNESS (OMIM:605685)
CUTIS VERTICIS GYRATA, THYROID APLASIA, AND MENTAL RETARDATION (OMIM:304200)
CYCLIC VOMITING SYNDROME (OMIM:500007)
CYSTEINE PEPTIDURIA (OMIM:219550)
CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Cabezas syndrome (Orphanet:85293)
Camptodactyly - tall stature - scoliosis - hearing loss (Orphanet:85164)
Camptodactyly syndrome, Guadalajara type 1 (Orphanet:1327)
Carbamoylphosphate synthetase deficiency (Orphanet:147)
Cardiocranial syndrome, Pfeiffer type (Orphanet:2872)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Carnosinemia (Orphanet:1361)
Carpenter syndrome (Orphanet:65759)
Cataract - hypertrichosis - intellectual deficit (Orphanet:1375)
Cataract - nephropathy - encephalopathy (Orphanet:1380)
Cerebro-costo-mandibular syndrome (Orphanet:1393)
Cerebro-facio-articular syndrome (Orphanet:314679)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Cerebro-oculo-nasal syndrome (Orphanet:66625)
Cerebrotendinous xanthomatosis (Orphanet:909)
Charcot-Marie-Tooth disease type 4B3 (Orphanet:363981)
Choroideremia - deafness - obesity (Orphanet:1435)
Chylomicron retention disease (Orphanet:71)
Chédiak-Higashi syndrome (Orphanet:167)
Citrullinemia type I (Orphanet:247525)
Citrullinemia type II (Orphanet:247585)
Classic galactosemia (Orphanet:79239)
Classic maple syrup urine disease (Orphanet:268145)
Classical homocystinuria (Orphanet:394)
Classical phenylketonuria (Orphanet:79254)
Cockayne syndrome (Orphanet:191)
Coffin-Lowry syndrome (Orphanet:192)
Coffin-Siris syndrome (Orphanet:1465)
Cohen syndrome (Orphanet:193)
Cold-induced sweating syndrome (Orphanet:157820)
Combined oxidative phosphorylation defect type 15 (Orphanet:319524)
Congenital cataracts - facial dysmorphism - neuropathy (Orphanet:48431)
Congenital hydrocephalus (Orphanet:2185)
Congenital lactic acidosis, Saguenay-Lac-St. Jean type (Orphanet:70472)
Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect (Orphanet:280671)
Congenital muscular dystrophy type 1A (Orphanet:258)
Congenital muscular dystrophy with cerebellar involvement (Orphanet:370959)
Congenital muscular dystrophy with integrin alpha-7 deficiency (Orphanet:34520)
Cooper-Jabs syndrome (Orphanet:1488)
Corneal anesthesia - deafness - intellectual deficit (Orphanet:1051)
Corneal-cerebellar syndrome (Orphanet:3177)
Cornelia de Lange syndrome (Orphanet:199)
Corpus callosum agenesis - neuronopathy (Orphanet:1496)
Cortical dysplasia - focal epilepsy syndrome (Orphanet:163681)
Costello syndrome (Orphanet:3071)
Cowden syndrome (Orphanet:201)
Craniofacial dyssynostosis (Orphanet:1516)
Craniofacial-ulnar-renal syndrome (Orphanet:293843)
Crouzon disease (Orphanet:207)
Cystic fibrosis - gastritis - megaloblastic anemia (Orphanet:2575)
Cystinosis (Orphanet:213)
Cystinuria (Orphanet:214)
D-2-@HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
D-2-hydroxyglutaric aciduria (Orphanet:79315)
D-glyceric aciduria (Orphanet:941)
DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR (OMIM:221300)
DEAFNESS, CONGENITAL, WITH TOTAL ALBINISM (OMIM:220900)
DEND syndrome (Orphanet:79134)
DERMATOLEUKODYSTROPHY (OMIM:221790)
DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA (OMIM:221950)
DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (OMIM:304800)
DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
DPAGT1-CDG (Orphanet:86309)
DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE (OMIM:223500)
DYSAUTONOMIA-LIKE DISORDER (OMIM:224000)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1 (OMIM:224230)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2 (OMIM:613987)
DYSMYELINATION WITH JAUNDICE (OMIM:224250)
De Barsy syndrome (Orphanet:2962)
Deafness - intellectual deficit, Martin-Probst type (Orphanet:85321)
Dehydratase deficiency (Orphanet:1578)
Dent disease type 2 (Orphanet:93623)
Desbuquois syndrome (Orphanet:1425)
Developmental delay with autism spectrum disorder and gait instability (Orphanet:329195)
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type (Orphanet:363444)
Dicarboxylic aminoaciduria (Orphanet:2195)
Dihydropteridine reductase deficiency (Orphanet:226)
Dihydropyrimidine dehydrogenase deficiency (Orphanet:1675)
Dihydropyrimidinuria (Orphanet:38874)
Dilated cardiomyopathy with ataxia (Orphanet:66634)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (Orphanet:2229)
Disorder of sex development - intellectual deficit (Orphanet:2983)
Distal limb deficiencies - micrognathia syndrome (Orphanet:1307)
Distal monosomy 10q (Orphanet:96148)
Distal monosomy 15q (Orphanet:1596)
Distal monosomy 1q (Orphanet:36367)
Distal monosomy 6p (Orphanet:96125)
Dopa-responsive dystonia due to sepiapterin reductase deficiency (Orphanet:70594)
Dorfman-Chanarin disease (Orphanet:98907)
Down syndrome (Orphanet:870)
Dubowitz syndrome (Orphanet:235)
Duchenne muscular dystrophy (Orphanet:98896)
Dwarfism - intellectual deficit - eye abnormality (Orphanet:2650)
Dysequilibrium syndrome (Orphanet:1766)
Dysosteosclerosis (Orphanet:1782)
EAST syndrome (Orphanet:199343)
ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY (OMIM:600906)
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1 (OMIM:129900)
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME3 (OMIM:604292)
EDINBURGH MALFORMATION SYNDROME (OMIM:129850)
EEC syndrome (Orphanet:1896)
EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE (OMIM:608763)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
ENCEPHALOMALACIA, MULTILOCULAR (OMIM:225700)
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 (OMIM:607876)
EPILEPSY, NOCTURNAL FRONTAL LOBE, 1 (OMIM:600513)
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 (OMIM:615005)
EPILEPSY, PHOTOGENIC, WITH SPASTIC DIPLEGIA AND MENTAL RETARDATION (OMIM:226800)
EPILEPSY, PROGRESSIVE MYOCLONIC, 8 (OMIM:616230)
EPILEPSY-TELANGIECTASIA (OMIM:226850)
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET (OMIM:615369)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 (OMIM:614558)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 (OMIM:615744)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 (OMIM:615871)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 (OMIM:616139)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
EPSILON-TRIMETHYLLYSINE HYDROXYLASE DEFICIENCY (OMIM:300872)
EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATIONAND MICROCEPHALY (OMIM:133750)
Ear-patella-short stature syndrome (Orphanet:2554)
Early infantile epileptic encephalopathy (Orphanet:1934)
Early-onset X-linked optic atrophy (Orphanet:98890)
Early-onset parkinsonism - intellectual deficit (Orphanet:2379)
Ectodermal dysplasia - blindness (Orphanet:1806)
Ectodermal dysplasia, Berlin type (Orphanet:1816)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Ellis Van Creveld syndrome (Orphanet:289)
Emanuel syndrome (Orphanet:96170)
Emery-Nelson syndrome (Orphanet:1927)
Encephalopathy due to GLUT1 deficiency (Orphanet:71277)
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria (Orphanet:1035)
Encephalopathy due to hydroxykynureninuria (Orphanet:79155)
Endomyocardial fibroelastosis (Orphanet:2022)
Epilepsy - microcephaly - skeletal dysplasia (Orphanet:1948)
Epileptic encephalopathy with continuous spike-and-wave during sleep (Orphanet:725)
Ethylmalonic encephalopathy (Orphanet:51188)
FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION (OMIM:227250)
FACIOCARDIOMELIC SYNDROME (OMIM:612731)
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
FANCONI ANEMIA, COMPLEMENTATION GROUP C (OMIM:227645)
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 (OMIM:227646)
FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
FEINGOLD SYNDROME 1 (OMIM:164280)
FEINGOLD SYNDROME 2 (OMIM:614326)
FG SYNDROME 4 (OMIM:300422)
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3C (OMIM:609384)
FRAXE intellectual deficit (Orphanet:100973)
Facioscapulohumeral dystrophy (Orphanet:269)
Fallot complex - intellectual deficit - growth delay (Orphanet:3304)
Familial focal epilepsy with variable foci (Orphanet:98820)
Familial hyperthyroidism due to mutations in TSH receptor (Orphanet:424)
Familial infantile myoclonic epilepsy (Orphanet:352582)
Familial scaphocephaly syndrome, McGillivray type (Orphanet:168624)
Familial thyroid dyshormonogenesis (Orphanet:95716)
Fanconi anemia (Orphanet:84)
Farber lipogranulomatosis (Orphanet:333)
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (Orphanet:168566)
Feingold syndrome (Orphanet:1305)
Female restricted epilepsy with intellectual deficit (Orphanet:101039)
Fetal iodine syndrome (Orphanet:1910)
Fibrodysplasia ossificans progressiva (Orphanet:337)
Filippi syndrome (Orphanet:3255)
Fine-Lubinsky syndrome (Orphanet:1272)
Focal dermal hypoplasia (Orphanet:2092)
Formiminoglutamic aciduria (Orphanet:51208)
Fountain syndrome (Orphanet:3219)
Fragile X syndrome (Orphanet:908)
Fraser syndrome (Orphanet:2052)
Freeman-Sheldon syndrome (Orphanet:2053)
Frontometaphyseal dysplasia (Orphanet:1826)
Frontonasal dysplasia (Orphanet:250)
Frontonasal dysplasia with alopecia and genital anomaly (Orphanet:228390)
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome (Orphanet:306542)
Fryns syndrome (Orphanet:2059)
Fucosidosis (Orphanet:349)
GM1 gangliosidosis (Orphanet:354)
GM1 gangliosidosis type 1 (Orphanet:79255)
GMS syndrome (Orphanet:2090)
GTP cyclohydrolase I deficiency (Orphanet:2102)
Galactose epimerase deficiency (Orphanet:79238)
Galactosialidosis (Orphanet:351)
Galloway-Mowat syndrome (Orphanet:2065)
Gamma-glutamyl transpeptidase deficiency (Orphanet:33573)
Gaucher disease type 2 (Orphanet:77260)
Gaucher disease type 3 (Orphanet:77261)
Generalized congenital lipodystrophy with myopathy (Orphanet:228429)
Geroderma osteodysplastica (Orphanet:2078)
Giant axonal neuropathy (Orphanet:643)
Glutathione synthetase deficiency with 5-oxoprolinuria (Orphanet:289846)
Glycine encephalopathy (Orphanet:407)
Glycogen storage disease due to GLUT2 deficiency (Orphanet:2088)
Glycogen storage disease due to LAMP-2 deficiency (Orphanet:34587)
Glycogen storage disease due to acid maltase deficiency (Orphanet:365)
Glycogen storage disease due to aldolase A deficiency (Orphanet:57)
Glycogen storage disease due to glucose-6-phosphatase deficiency type a (Orphanet:79258)
Glycogen storage disease due to glucose-6-phosphatase deficiency type b (Orphanet:79259)
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (Orphanet:713)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
Goldenhar syndrome (Orphanet:374)
Gordon syndrome (Orphanet:376)
Gorlin syndrome (Orphanet:377)
Griscelli disease (Orphanet:381)
Griscelli disease type 1 (Orphanet:79476)
Growth delay due to insulin-like growth factor type 1 deficiency (Orphanet:73272)
Guanidinoacetate methyltransferase deficiency (Orphanet:382)
HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT (OMIM:235830)
HOLOPROSENCEPHALY 2 (OMIM:157170)
HOLOPROSENCEPHALY 5 (OMIM:609637)
HOOFT DISEASE (OMIM:236300)
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1 (OMIM:236600)
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2 (OMIM:615219)
HYDROXYPROLINEMIA (OMIM:237000)
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4 (OMIM:609975)
HYPERLYSINURIA WITH HYPERAMMONEMIA (OMIM:238750)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 (OMIM:614749)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5 (OMIM:616025)
HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVEFACIAL FEATURES (OMIM:609943)
HYPERURICEMIA, INFANTILE, WITH ABNORMAL BEHAVIOR AND NORMAL HYPOXANTHINEGUANINE PHOSPHORIBOSYLTRANSFERASE (OMIM:240000)
HYPOGLYCEMIA, LEUCINE-INDUCED (OMIM:240800)
HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY (OMIM:241000)
HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA (OMIM:147950)
Hair defect - photosensitivity - intellectual deficit (Orphanet:1408)
Hall-Riggs syndrome (Orphanet:2107)
Hallermann-Streiff syndrome (Orphanet:2108)
Harrod syndrome (Orphanet:2115)
Heart defect - round face - congenital developmental delay (Orphanet:1355)
Hemolytic anemia due to glucophosphate isomerase deficiency (Orphanet:712)
Hennekam syndrome (Orphanet:2136)
Hennekam-Beemer syndrome (Orphanet:2135)
Hereditary folate malabsorption (Orphanet:90045)
Hereditary fructose intolerance (Orphanet:469)
Hereditary sensory and autonomic neuropathy type 4 (Orphanet:642)
High myopia-sensorineural deafness syndrome (Orphanet:363396)
Hirsutism - skeletal dysplasia - intellectual deficit (Orphanet:2156)
Histidinemia (Orphanet:2157)
Homocarnosinosis (Orphanet:2168)
Hoyeraal-Hreidarsson syndrome (Orphanet:3322)
Hunter-McAlpine craniosynostosis (Orphanet:97340)
Hurler syndrome (Orphanet:93473)
Hurler-Scheie syndrome (Orphanet:93476)
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly (Orphanet:2180)
Hydrocephalus with stenosis of aqueduct of Sylvius (Orphanet:2182)
Hyperammonemia due to N-acetylglutamate synthetase deficiency (Orphanet:927)
Hyperdibasic aminoaciduria type 1 (Orphanet:1032)
Hyperinsulinism due to glucokinase deficiency (Orphanet:79299)
Hyperinsulinism-hyperammonemia syndrome (Orphanet:35878)
Hyperleucine-isoleucinemia (OMIM:238340)
Hyperlysinemia due to defect in lysine transport into mitochondria (OMIM:238710)
Hyperlysinemia, type I (OMIM:238700)
Hyperornithinemia-hyperammonemia-homocitrullinuria (Orphanet:415)
Hyperphosphatasia-intellectual deficiency syndrome (Orphanet:247262)
Hyperprolinemia type 1 (Orphanet:419)
Hyperprolinemia type 2 (Orphanet:79101)
Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual deficiency (Orphanet:2435)
Hypochondroplasia (Orphanet:429)
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome (Orphanet:363523)
Hypomyelination - congenital cataract (Orphanet:85163)
Hypomyelination with atrophy of basal ganglia and cerebellum (Orphanet:139441)
Hypospadias - intellectual deficit, Goldblatt type (Orphanet:2261)
ICF syndrome (Orphanet:2268)
ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS (OMIM:242150)
ICHTHYOSIS AND MALE HYPOGONADISMRUD SYNDROME, INCLUDED (OMIM:308200)
ICHTHYOSIS, SPLIT HAIRS, AND AMINO ACIDURIA (OMIM:242550)
ICHTHYOSIS-MENTAL RETARDATION SYNDROME WITH LARGE KERATOHYALIN GRANULESIN THE SKIN (OMIM:601039)
IMMUNODEFICIENCY 23 (OMIM:615816)
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME2 (OMIM:614069)
INDOLYLACROYL GLYCINURIA WITH MENTAL RETARDATION (OMIM:243050)
Ichthyosis - alopecia - eclabion - ectropion - intellectual deficit (Orphanet:2269)
Ichthyosis - intellectual deficit - dwarfism - renal impairment (Orphanet:2278)
Ichthyosis follicularis - alopecia - photophobia (Orphanet:2273)
Iminoglycinuria (Orphanet:42062)
Incontinentia pigmenti (Orphanet:464)
Infantile Bartter syndrome with deafness (Orphanet:89938)
Infantile epileptic-dyskinetic encephalopathy (Orphanet:364063)
Infantile neuroaxonal dystrophy (Orphanet:35069)
Infantile onset spinocerebellar ataxia (Orphanet:1186)
Inherited congenital spastic tetraplegia (Orphanet:210141)
Intellectual deficiency - hypotonia - spasticity - sleep disorder (Orphanet:356996)
Intellectual deficit - alacrima - achalasia (Orphanet:289483)
Intellectual deficit - balding - patella luxation - acromicria (Orphanet:3041)
Intellectual deficit - cataracts - calcified pinnae - myopathy (Orphanet:3042)
Intellectual deficit - spasticity - ectrodactyly (Orphanet:1891)
Intellectual deficit, Birk-Barel type (Orphanet:166108)
Intellectual deficit, Buenos-Aires type (Orphanet:3079)
Intellectual deficit, Wolff type (Orphanet:3080)
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures (Orphanet:1568)
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy (Orphanet:2958)
Intellectual deficit, X-linked - psychosis - macroorchidism (Orphanet:3077)
Intellectual deficit, X-linked - seizures - psoriasis (Orphanet:3052)
Intellectual deficit, X-linked, Abidi type (Orphanet:85273)
Intellectual deficit, X-linked, Armfield type (Orphanet:85276)
Intellectual deficit, X-linked, Cantagrel type (Orphanet:85277)
Intellectual deficit, X-linked, Miles-Carpenter type (Orphanet:85283)
Intellectual deficit, X-linked, Nascimento type (Orphanet:163956)
Intellectual deficit, X-linked, Raymond type (Orphanet:163953)
Intellectual deficit, X-linked, Schimke type (Orphanet:85285)
Intellectual deficit, X-linked, Shrimpton type (Orphanet:85324)
Intellectual deficit, X-linked, Siderius type (Orphanet:85287)
Intellectual deficit, X-linked, Snyder type (Orphanet:3063)
Intellectual deficit, X-linked, Turner type (Orphanet:85328)
Intellectual deficit, X-linked, Wilson type (Orphanet:85290)
Intellectual deficit, X-linked, Wittwer type (Orphanet:85291)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome (Orphanet:363611)
Intellectual disability-strabismus syndrome (Orphanet:363528)
Isolated 3-methylcrotonyl-CoA carboxylase deficiency (Orphanet:6)
Isolated CoQ-cytochrome C reductase deficiency (Orphanet:1460)
Isolated cytochrome C oxidase deficiency (Orphanet:254905)
Isolated focal cortical dysplasia (Orphanet:65683)
Isolated focal cortical dysplasia type II (Orphanet:268994)
Isolated focal cortical dysplasia type IIa (Orphanet:269001)
Isolated focal cortical dysplasia type IIb (Orphanet:269008)
Isolated glycerol kinase deficiency (Orphanet:408)
Isolated thyrotropin-releasing hormone deficiency (Orphanet:238670)
Ito hypomelanosis (Orphanet:435)
Jacobsen syndrome (Orphanet:2308)
Jawad syndrome (Orphanet:313795)
Johanson-Blizzard syndrome (Orphanet:2315)
Joubert syndrome (Orphanet:475)
Joubert syndrome 1 (OMIM:213300)
Joubert syndrome 10 (OMIM:300804)
Joubert syndrome 15 (OMIM:614464)
Joubert syndrome 18 (OMIM:614815)
Joubert syndrome 2 (OMIM:608091)
Joubert syndrome 21 (OMIM:615636)
Joubert syndrome 3 (OMIM:608629)
Joubert syndrome 5 (OMIM:610188)
Joubert syndrome 6 (OMIM:610688)
Joubert syndrome 7 (OMIM:611560)
Joubert syndrome 9 (OMIM:612285)
Joubert syndrome with hepatic defect (Orphanet:1454)
Joubert syndrome with ocular defect (Orphanet:220493)
Joubert syndrome with orofaciodigital defect (Orphanet:2754)
Juberg-Hayward syndrome (Orphanet:2319)
Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency (Orphanet:352497)
KABUKI SYNDROME 1 (OMIM:147920)
KBG syndrome (Orphanet:2332)
KETOADIPICACIDURIA (OMIM:245130)
KIFAFA SEIZURE DISORDER (OMIM:245180)
Kabuki syndrome (Orphanet:2322)
Kaler-Garrity-Stern syndrome (Orphanet:2324)
Kallmann syndrome (Orphanet:478)
Ketoacidosis due to beta-ketothiolase deficiency (Orphanet:134)
Kleefstra syndrome (Orphanet:261494)
Klippel-Trénaunay syndrome (Orphanet:90308)
Koolen-De Vries syndrome (Orphanet:96169)
Kostmann syndrome (Orphanet:99749)
L1 syndrome (Orphanet:275543)
LACTIC ACIDURIA DUE TO D-LACTIC ACID (OMIM:245450)
LEBER OPTIC ATROPHY AND DYSTONIA (OMIM:500001)
LENTIGINOSIS, CENTROFACIAL NEURODYSRAPHIC (OMIM:151000)
LEOPARD SYNDROME 3 (OMIM:613707)
LESCH-NYHAN PHENOTYPE WITH NORMAL HGPRT (OMIM:308950)
LESCH-NYHAN SYNDROME (OMIM:300322)
LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
LUJAN-FRYNS SYNDROME (OMIM:309520)
LYSINE MALABSORPTION SYNDROME (OMIM:247950)
Lambert syndrome (Orphanet:1296)
Landau-Kleffner syndrome (Orphanet:98818)
Langer-Giedion syndrome (Orphanet:502)
Laryngeal abductor paralysis (Orphanet:2808)
Laryngeal abductor paralysis - intellectual deficit (Orphanet:2375)
Late-onset localized junctional epidermolysis bullosa - intellectual deficit (Orphanet:231556)
Lathosterolosis (Orphanet:46059)
Laurence-Moon syndrome (Orphanet:2377)
Leber congenital amaurosis 1 (OMIM:204000)
Leber congenital amaurosis 10 (OMIM:611755)
Leber congenital amaurosis 2 (OMIM:204100)
Leigh syndrome (Orphanet:506)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Leprechaunism (Orphanet:508)
Lesch-Nyhan syndrome (Orphanet:510)
Lethal ataxia with deafness and optic atrophy (Orphanet:1187)
Leukoencephalopathy - metaphyseal chondrodysplasia (Orphanet:83629)
Linear nevus sebaceus syndrome (Orphanet:2612)
Lipodystrophy - intellectual deficit - deafness (Orphanet:50811)
Lissencephaly due to LIS1 mutation (Orphanet:95232)
Lissencephaly type 1 due to doublecortin gene mutation (Orphanet:2148)
Loeys-Dietz syndrome type 1 (Orphanet:60030)
Lowry-MacLean syndrome (Orphanet:2409)
Lymphangioleiomyomatosis (Orphanet:538)
MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL DEFICIENCY (OMIM:248400)
MASA syndrome (Orphanet:2466)
MEDNIK syndrome (Orphanet:171851)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
MEGALENCEPHALY, AUTOSOMAL DOMINANT (OMIM:155350)
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 (OMIM:615937)
MEGDEL syndrome (Orphanet:352328)
MEIER-GORLIN SYNDROME 1 (OMIM:224690)
MELAS (Orphanet:550)
MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA (OMIM:156190)
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTICFEATURES (OMIM:613670)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 10 (OMIM:614256)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 (OMIM:614257)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 (OMIM:614562)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 (OMIM:614607)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 (OMIM:614608)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 16 (OMIM:614609)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 (OMIM:615009)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 (OMIM:615075)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 2 (OMIM:614113)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 (OMIM:615828)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 (OMIM:615866)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 3 (OMIM:612580)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 (OMIM:616268)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 (OMIM:616311)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 4 (OMIM:612581)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (OMIM:612621)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 (OMIM:613970)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 8 (OMIM:614254)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 (OMIM:614255)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 (OMIM:249500)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 (OMIM:611090)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 (OMIM:614020)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 (OMIM:614340)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 31 (OMIM:614329)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34 (OMIM:614499)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 35 (OMIM:615162)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 (OMIM:615942)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 (OMIM:616193)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 (OMIM:616269)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 (OMIM:616281)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 (OMIM:611092)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 (OMIM:611093)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9 (OMIM:611095)
MENTAL RETARDATION, FRA12A TYPE (OMIM:136630)
MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,AND FACIAL DYSMORPHISM (OMIM:606242)
MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKINANOMALIES (OMIM:606772)
MENTAL RETARDATION, X-LINKED 1 (OMIM:309530)
MENTAL RETARDATION, X-LINKED 100 (OMIM:300923)
MENTAL RETARDATION, X-LINKED 101 (OMIM:300928)
MENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
MENTAL RETARDATION, X-LINKED 20 (OMIM:300047)
MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
MENTAL RETARDATION, X-LINKED 41 (OMIM:300849)
MENTAL RETARDATION, X-LINKED 45 (OMIM:300498)
MENTAL RETARDATION, X-LINKED 46 (OMIM:300436)
MENTAL RETARDATION, X-LINKED 63 (OMIM:300387)
MENTAL RETARDATION, X-LINKED 72 (OMIM:300271)
MENTAL RETARDATION, X-LINKED 88 (OMIM:300852)
MENTAL RETARDATION, X-LINKED 89 (OMIM:300848)
MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
MENTAL RETARDATION, X-LINKED 92 (OMIM:300851)
MENTAL RETARDATION, X-LINKED 95 (OMIM:300716)
MENTAL RETARDATION, X-LINKED 96 (OMIM:300802)
MENTAL RETARDATION, X-LINKED 97 (OMIM:300803)
MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (OMIM:300419)
MERRF (Orphanet:551)
MESANGIAL SCLEROSIS, DIFFUSE RENAL, WITH OCULAR ABNORMALITIES (OMIM:249660)
METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
METHIONINE MALABSORPTION SYNDROME (OMIM:250900)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III (OMIM:210730)
MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616080)
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICALMALFORMATIONS (OMIM:604317)
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604321)
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:612703)
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM (OMIM:616033)
MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615159)
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 (OMIM:614053)
MITOCHONDRIAL MYOPATHY (OMIM:251900)
MMEP syndrome (Orphanet:3434)
MOMO syndrome (Orphanet:2563)
MORBID OBESITY AND SPERMATOGENIC FAILURE (OMIM:615703)
MORQUIO SYNDROME C (OMIM:252300)
MOVED TO 210600 (OMIM:608664)
MOVED TO 601464 (OMIM:136610)
MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 14 (OMIM:615350)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 (OMIM:253800)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6 (OMIM:613154)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 (OMIM:615351)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2 (OMIM:613156)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 3 (OMIM:613151)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 (OMIM:606612)
Male hypergonadotropic hypogonadism - intellectual deficit - skeletal anomalies (Orphanet:2234)
Maple syrup urine disease (Orphanet:511)
Marden-Walker syndrome (Orphanet:2461)
Marfanoid habitus - intellectual deficit, autosomal recessive (Orphanet:2463)
Marinesco-Sjögren syndrome (Orphanet:559)
Marshall-Smith syndrome (Orphanet:561)
Maternal hyperphenylalaninemia (Orphanet:2209)
McDonough syndrome (Orphanet:2471)
Megalencephaly (Orphanet:2477)
Megalencephaly-capillary malformation-polymicrogyria syndrome (Orphanet:60040)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Menkes disease (Orphanet:565)
Metaphyseal acroscyphodysplasia (Orphanet:1240)
Methylcobalamin deficiency type cblDv1 (Orphanet:308380)
Methylcobalamin deficiency type cblG (Orphanet:2170)
Methylmalonic acidemia with homocystinuria, type cblC (Orphanet:79282)
Methylmalonic acidemia with homocystinuria, type cblD (Orphanet:79283)
Methylmalonic acidemia with homocystinuria, type cblX (Orphanet:369962)
Micro syndrome (Orphanet:2510)
Microbrachycephaly - ptosis - cleft lip (Orphanet:2511)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microcephalic primordial dwarfism, Toriello type (Orphanet:2643)
Microcephaly - cervical spine fusion anomalies (Orphanet:2522)
Microcephaly - deafness - intellectual deficit (Orphanet:2533)
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type (Orphanet:217026)
Microcephaly - glomerulonephritis - marfanoid habitus (Orphanet:2172)
Microcephaly - intellectual deficit - phalangeal and neurological anomalies (Orphanet:137658)
Microcephaly-cardiomyopathy syndrome (Orphanet:2515)
Micromelic dwarfism, Fryns type (Orphanet:2641)
Microphthalmia - ankyloblepharon - intellectual deficit (Orphanet:85275)
Microphthalmia with limb anomalies (Orphanet:1106)
Mietens syndrome (Orphanet:2557)
Miller-Dieker syndrome (Orphanet:531)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (Orphanet:1933)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (Orphanet:255235)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency (Orphanet:314637)
Mitochondrial myopathy and sideroblastic anemia (Orphanet:2598)
Mohr-Tranebjaerg syndrome (Orphanet:52368)
Monosomy 13q14 (Orphanet:1587)
Monosomy 18p (Orphanet:1598)
Monosomy 18q (Orphanet:1600)
Monosomy 5p (Orphanet:281)
Monosomy 9p (Orphanet:261112)
Mowat-Wilson syndrome (Orphanet:2152)
Mowat-Wilson syndrome due to a point mutation (Orphanet:261552)
Mowat-Wilson syndrome due to monosomy 2q22 (Orphanet:261537)
Moynahan syndrome (Orphanet:2574)
Mucolipidosis type 3 (Orphanet:577)
Mucolipidosis type 4 (Orphanet:578)
Mucopolysaccharidosis type 1 (Orphanet:579)
Mucopolysaccharidosis type 2, severe form (Orphanet:217085)
Mucopolysaccharidosis type 3 (Orphanet:581)
Mucopolysaccharidosis type 4 (Orphanet:582)
Mucopolysaccharidosis type 7 (Orphanet:584)
Muenke syndrome (Orphanet:53271)
Mulibrey nanism (Orphanet:2576)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
Multiple sulfatase deficiency (Orphanet:585)
Myhre syndrome (Orphanet:2588)
Myopathy and diabetes mellitus (Orphanet:2596)
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 (OMIM:600462)
N syndrome (Orphanet:2608)
NARP syndrome (Orphanet:644)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
NOONAN SYNDROME 1 (OMIM:163950)
NOONAN SYNDROME 7 (OMIM:613706)
NOONAN SYNDROME 8 (OMIM:615355)
Native American myopathy (Orphanet:168572)
Neonatal adrenoleukodystrophy (Orphanet:44)
Nephrogenic diabetes insipidus (Orphanet:223)
Nephronophthisis 12 (OMIM:613820)
Nephronophthisis 18 (OMIM:615862)
Nephronophthisis-like nephropathy 1 (OMIM:613159)
Neurodegeneration with brain iron accumulation due to C19orf12 mutation (Orphanet:289560)
Neurodegenerative syndrome due to cerebral folate transport deficiency (Orphanet:217382)
Neuroectodermal melanolysosomal disease (Orphanet:33445)
Neuroectodermal syndrome, Johnson type (Orphanet:2316)
Neurofaciodigitorenal syndrome (Orphanet:2673)
Neurologic Waardenburg-Shah syndrome (Orphanet:163746)
Niemann-Pick disease type A (Orphanet:77292)
Niemann-Pick disease type C (Orphanet:646)
Nijmegen breakage syndrome (Orphanet:647)
Nijmegen breakage syndrome-like disorder (Orphanet:240760)
Non-progressive cerebellar ataxia with intellectual deficit (Orphanet:314647)
Nonacquired combined pituitary hormone deficiency with spine abnormalities (Orphanet:231720)
Noonan syndrome (Orphanet:648)
Noonan syndrome-like disorder with loose anagen hair (Orphanet:2701)
OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
OCULORENOCEREBELLAR SYNDROME (OMIM:257970)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
OROFACIODIGITAL SYNDROME VI (OMIM:277170)
OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA (OMIM:615198)
Oculo-palato-cerebral syndrome (Orphanet:2714)
Oculocerebral hypopigmentation syndrome, Cross type (Orphanet:2719)
Oculocerebrocutaneous syndrome (Orphanet:1647)
Oculocerebrofacial syndrome, Kaufman type (Orphanet:2707)
Oculocerebrorenal syndrome (Orphanet:534)
Oculodentodigital dysplasia (Orphanet:2710)
Odontotrichomelic syndrome (Orphanet:2723)
Oliver syndrome (Orphanet:2920)
Ophthalmoplegia - intellectual deficit - lingua scrotalis (Orphanet:2743)
Opitz G/BBB syndrome (Orphanet:2745)
Ornithine transcarbamylase deficiency (Orphanet:664)
Orofaciodigital syndrome type 1 (Orphanet:2750)
Orofaciodigital syndrome type 11 (Orphanet:141000)
Orofaciodigital syndrome type 3 (Orphanet:2752)
Orofaciodigital syndrome type 5 (Orphanet:2919)
Osteopetrosis with renal tubular acidosis (Orphanet:2785)
Otopalatodigital syndrome (Orphanet:669)
Otopalatodigital syndrome type 2 (Orphanet:90652)
PELGER-HUET ANOMALY (OMIM:169400)
PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
PEROXISOME BIOGENESIS DISORDER 2B (OMIM:202370)
PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE (OMIM:615752)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
PORENCEPHALY 1 (OMIM:175780)
PRUNE BELLY SYNDROME WITH PULMONIC STENOSIS, MENTAL RETARDATION, ANDDEAFNESS (OMIM:264140)
PSEUDOURIDINURIA AND MENTAL DEFECT (OMIM:264500)
PYCR1-related DeBarsy syndrome (Orphanet:293633)
Pachygyria - intellectual deficit - epilepsy (Orphanet:2798)
Pancreatic hypoplasia - diabetes - congenital heart disease (Orphanet:2255)
Paraplegia - intellectual deficit - hyperkeratosis (Orphanet:2824)
Paris-Trousseau thrombocytopenia (Orphanet:851)
Partial acquired lipodystrophy (Orphanet:79087)
Partington syndrome (Orphanet:94083)
Pendred syndrome (Orphanet:705)
Perinatal lethal hypophosphatasia (Orphanet:247623)
Permanent neonatal diabetes mellitus (Orphanet:99885)
Perrault Syndrome 1 (OMIM:233400)
Perrault Syndrome 3 (OMIM:614129)
Pfeiffer syndrome (Orphanet:710)
Phenylketonuria (Orphanet:716)
Phosphoribosylpyrophosphate synthetase superactivity (Orphanet:3222)
Piebald trait - neurologic defects (Orphanet:2885)
Polymicrogyria due to TUBB2B mutation (Orphanet:300573)
Pontine tegmental cap dysplasia (Orphanet:269229)
Pontocerebellar hypoplasia type 1 (Orphanet:2254)
Pontocerebellar hypoplasia type 8 (Orphanet:324569)
Porencephaly (Orphanet:2940)
Posterior column ataxia - retinitis pigmentosa (Orphanet:88628)
Potocki-Shaffer syndrome (Orphanet:52022)
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome (Orphanet:306558)
Primordial short stature - microdontia - opalescent and rootless teeth (Orphanet:46658)
Progeria - short stature - pigmented nevi (Orphanet:2959)
Progressive epilepsy-intellectual deficit, Finnish type (Orphanet:1947)
Progressive external ophthalmoplegia - myopathy - emaciation (Orphanet:352447)
Progressive myoclonic epilepsy type 3 (Orphanet:263516)
Proximal renal tubular acidosis (Orphanet:47159)
Pseudohypoparathyroidism type 1A (Orphanet:79443)
Pseudohypoparathyroidism type 1C (Orphanet:79444)
Pseudopseudohypoparathyroidism (Orphanet:79445)
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (Orphanet:88618)
Pterygium colli - intellectual deficit - digital anomalies (Orphanet:2988)
Purine nucleoside phosphorylase deficiency (Orphanet:760)
Pyridoxine-dependent epilepsy (Orphanet:3006)
Pyruvate carboxylase deficiency (Orphanet:3008)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
Pyruvate dehydrogenase E3-binding protein deficiency (Orphanet:255182)
Pyruvate dehydrogenase lipoic acid synthetase deficiency (OMIM:614462)
Pyruvate dehydrogenase phosphatase deficiency (Orphanet:79246)
RFT1-CDG (Orphanet:244310)
ROBERTS SYNDROME (OMIM:268300)
Rabson-Mendenhall syndrome (Orphanet:769)
Ramon syndrome (Orphanet:3019)
Recessive hereditary methemoglobinemia type 1 (Orphanet:139373)
Recessive hereditary methemoglobinemia type 2 (Orphanet:139380)
Recombinant 8 syndrome (Orphanet:96167)
Renal coloboma syndrome (Orphanet:1475)
Renal cysts and diabetes syndrome (Orphanet:93111)
Renal tubulopathy - encephalopathy - liver failure (Orphanet:254902)
Renpenning syndrome (Orphanet:3242)
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism (Orphanet:3085)
Rhizomelic chondrodysplasia punctata (Orphanet:177)
Rhizomelic chondrodysplasia punctata type 1 (Orphanet:309789)
Rhizomelic chondrodysplasia punctata type 2 (Orphanet:309796)
Richards-Rundle syndrome (Orphanet:1399)
Roberts syndrome (Orphanet:3103)
Rolandic epilepsy - speech dyspraxia (Orphanet:163721)
Rothmund-Thomson syndrome (Orphanet:2909)
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (Orphanet:353281)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
Ruvalcaba syndrome (Orphanet:3121)
SABINAS BRITTLE HAIR SYNDROME (OMIM:211390)
SCARF syndrome (Orphanet:3134)
SCHAAF-YANG SYNDROME (OMIM:615547)
SECKEL SYNDROME 1 (OMIM:210600)
SECKEL SYNDROME 6 (OMIM:614728)
SECKEL SYNDROME 8 (OMIM:615807)
SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION (OMIM:612447)
SOTOS SYNDROME 2 (OMIM:614753)
SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION (OMIM:607565)
SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION (OMIM:271109)
SPINAL MUSCULAR ATROPHY WITH MICROCEPHALY AND MENTAL SUBNORMALITY (OMIM:271110)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
SPONASTRIME dysplasia (Orphanet:93357)
SRD5A3-CDG (Orphanet:324737)
STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,MENTAL RETARDATION, AND DYSMORPHIC FEATURES (OMIM:612948)
STEVENSON-CAREY SYNDROME (OMIM:611961)
STRIATONIGRAL DEGENERATION, INFANTILE (OMIM:271930)
STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL (OMIM:500003)
STT3A-CDG (Orphanet:370921)
STT3B-CDG (Orphanet:370924)
SUCROSURIA, HIATUS HERNIA AND MENTAL RETARDATION (OMIM:272000)
Saccharopinuria (Orphanet:3124)
Salla disease (Orphanet:309334)
Sanfilippo syndrome type A (Orphanet:79269)
Sanfilippo syndrome type B (Orphanet:79270)
Sanfilippo syndrome type C (Orphanet:79271)
Sanfilippo syndrome type D (Orphanet:79272)
Sanjad-Sakati syndrome (Orphanet:2323)
Schinzel-Giedion syndrome (Orphanet:798)
Schwartz-Jampel syndrome (Orphanet:800)
Seckel syndrome (Orphanet:808)
Seizures - intellectual deficit due to hydroxylysinuria (Orphanet:79156)
Self-healing collodion baby (Orphanet:281122)
Senior-Boichis syndrome (Orphanet:84081)
Senior-Loken syndrome 8 (OMIM:616307)
Severe X-linked intellectual deficit, Gustavson type (Orphanet:3078)
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (Orphanet:369939)
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency (Orphanet:35123)
Short chain acyl-CoA dehydrogenase deficiency (Orphanet:26792)
Short stature - craniofacial anomalies - genital hypoplasia (Orphanet:2994)
Short stature - intellectual deficit - eye anomalies - cleft lip/palate (Orphanet:2649)
Short-rib thoracic dysplasia 10 with or without polydactyly (OMIM:615630)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Sialidosis type 1 (Orphanet:812)
Sjögren-Larsson syndrome (Orphanet:816)
Skeletal dysplasia - epilepsy - short stature (Orphanet:1858)
Skeletal dysplasia - intellectual deficit (Orphanet:1436)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Smith-Magenis syndrome (Orphanet:819)
Sotos syndrome (Orphanet:821)
Spastic diplegia, infantile type (Orphanet:1680)
Spastic paraplegia - epilepsy - intellectual deficit (Orphanet:2816)
Spastic paraplegia - glaucoma - intellectual deficit (Orphanet:2818)
Spastic paraplegia - nephritis - deafness (Orphanet:2820)
Spastic paraplegia - precocious puberty (Orphanet:2826)
Spastic paraplegia 64, autosomal recessive (OMIM:615683)
Spastic paraplegia type 2 (Orphanet:99015)
Spastic tetraplegia - retinitis pigmentosa - intellectual deficit (Orphanet:3011)
Spasticity - intellectual deficit - X-linked epilepsy (Orphanet:3175)
Spinocerebellar ataxia type 13 (Orphanet:98768)
Spinocerebellar ataxia type 21 (Orphanet:98773)
Split hand-split foot malformation (Orphanet:2440)
Spondyloenchondrodysplasia (Orphanet:1855)
Spondyloepimetaphyseal dysplasia, Geneviève type (Orphanet:168454)
Spondyloepiphyseal dysplasia tarda, Kohn type (Orphanet:163665)
Sporadic Leigh syndrome (Orphanet:255199)
Steinert myotonic dystrophy (Orphanet:273)
Sturge-Weber syndrome (Orphanet:3205)
Subaortic stenosis - short stature (Orphanet:3191)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A (Orphanet:308386)
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (Orphanet:206546)
Syndromic X-linked intellectual deficit 7 (Orphanet:85274)
T-SUBSTANCE ANOMALY (OMIM:276200)
TELECANTHUS (OMIM:187350)
TENORIO SYNDROME (OMIM:616260)
TETRAAMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES (OMIM:273390)
THYROID DYSHORMONOGENESIS 1 (OMIM:274400)
THYROID DYSHORMONOGENESIS 3 (OMIM:274700)
THYROID DYSHORMONOGENESIS 4 (OMIM:274800)
THYROID DYSHORMONOGENESIS 5 (OMIM:274900)
TMCO1 defect syndrome (Orphanet:228407)
TRICHORRHEXIS NODOSA SYNDROME (OMIM:275550)
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 (OMIM:234050)
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE (OMIM:601675)
TRYPTOPHANURIA WITH DWARFISM (OMIM:276100)
TUBEROUS SCLEROSIS 1 (OMIM:191100)
TUBEROUS SCLEROSIS 2 (OMIM:613254)
Temtamy syndrome (Orphanet:1777)
Thiamine-responsive megaloblastic anemia syndrome (Orphanet:49827)
Thrombocytopenia - absent radius (Orphanet:3320)
Thumb deformity - alopecia - pigmentation anomaly (Orphanet:2251)
Thumb stiffness - brachydactyly - intellectual deficit (Orphanet:1078)
Timothy syndrome (Orphanet:65283)
Townes-Brocks syndrome (Orphanet:857)
Transcobalamin deficiency (Orphanet:859)
Treacher-Collins syndrome (Orphanet:861)
Trichomegaly - retina pigmentary degeneration - dwarfism (Orphanet:3363)
Trigonocephaly - short stature - developmental delay (Orphanet:3369)
Triple A syndrome (Orphanet:869)
Tuberous sclerosis (Orphanet:805)
Tyrosinemia type 2 (Orphanet:28378)
Urban-Rogers-Meyer syndrome (Orphanet:3409)
Urocanic aciduria (Orphanet:210128)
Uveal coloboma - cleft lip and palate - intellectual deficit (Orphanet:1473)
VAN MALDERGEM SYNDROME 1 (OMIM:601390)
VAN MALDERGEM SYNDROME 2 (OMIM:615546)
VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Van den Bosch syndrome (Orphanet:3417)
Vitamin B12-responsive methylmalonic acidemia, type cblDv2 (Orphanet:308442)
W syndrome (Orphanet:2804)
WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
WAGR syndrome (Orphanet:893)
WARBURG MICRO SYNDROME 1 (OMIM:600118)
WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATIONSYNDROME (OMIM:194072)
Waardenburg syndrome (Orphanet:3440)
Waardenburg syndrome type 3 (Orphanet:896)
Warsaw breakage syndrome (Orphanet:280558)
Weaver syndrome (Orphanet:3447)
Weismann-Netter syndrome (Orphanet:3344)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
Wiedemann-Steiner syndrome (Orphanet:319182)
Williams syndrome (Orphanet:904)
Wilson-Turner syndrome (Orphanet:3459)
Wolcott-Rallison syndrome (Orphanet:1667)
Wolfram syndrome (Orphanet:3463)
Wolfram syndrome 1 (OMIM:222300)
Wolfram syndrome, mitochondrial form (OMIM:598500)
Woodhouse-Sakati syndrome (Orphanet:3464)
Worster-Drought syndrome (Orphanet:3465)
Wrinkly skin syndrome (Orphanet:2834)
X-linked Charcot-Marie-Tooth disease type 2 (Orphanet:101076)
X-linked Charcot-Marie-Tooth disease type 4 (Orphanet:101078)
X-linked complicated corpus callosum dysgenesis (Orphanet:1497)
X-linked complicated spastic paraplegia type 1 (Orphanet:306617)
X-linked creatine transporter deficiency (Orphanet:52503)
X-linked dominant chondrodysplasia, Chassaing-Lacombe type (Orphanet:163966)
X-linked intellectual deficit - cerebellar hypoplasia (Orphanet:137831)
X-linked intellectual deficit - spastic quadriparesis (Orphanet:163982)
X-linked intellectual deficit with marfanoid habitus (Orphanet:776)
X-linked intellectual disability due to GRIA3 anomalies (Orphanet:364028)
X-linked intellectual disability, Hedera type (Orphanet:93952)
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (Orphanet:324410)
X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome (Orphanet:85295)
X-linked intellectual disability-retinitis pigmentosa syndrome (Orphanet:85332)
X-linked non-syndromic intellectual deficit (Orphanet:777)
X-linked spastic paraplegia type 16 (Orphanet:100997)
XIA-GIBBS SYNDROME (OMIM:615829)
Xeroderma pigmentosum complementation group A (Orphanet:276249)
Xeroderma pigmentosum complementation group B (Orphanet:276252)
Xeroderma pigmentosum complementation group D (Orphanet:276258)
Xeroderma pigmentosum complementation group F (Orphanet:276264)
Xeroderma pigmentosum/Cockayne syndrome complex (Orphanet:220295)
Zechi-Ceide syndrome (Orphanet:217017)
Zunich-Kaye syndrome (Orphanet:3474)
[DEL] GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
[DEL] LEIGH SYNDROME, X-LINKED (OMIM:308930)
[DEL] SENGERS SYNDROME (OMIM:212350)