Global developmental delay

Symptom Information:

Symptom ID: HPO:0001263
Synonyms:
Cognitive delay [HPO:0001263]
Delayed cognitive development [HPO:0001263]
Delayed development [HPO:0001263]
Delayed developmental milestones [HPO:0001263]
Delayed intellectual development [HPO:0001263]
Delayed milestones [HPO:0001263]
Delayed psychomotor development [HPO:0001263]
Developmental delay [HPO:0001263]
Developmental delay in early childhood [HPO:0001263]
Developmental delay, global [HPO:0001263]
Developmental retardation [HPO:0001263]
Lack of psychomotor development [HPO:0001263]
Mental and motor retardation [HPO:0001263]
Motor and developmental delay [HPO:0001263]
Psychomotor delay [HPO:0001263]
Psychomotor development deficiency [HPO:0001263]
Psychomotor development failure [HPO:0001263]
Psychomotor developmental delay [HPO:0001263]
Psychomotor retardation [HPO:0001263]
Psychomotor retardation, severe [HPO:0001263]
Retarded development [HPO:0001263]
Retarded mental development [HPO:0001263]
Retarded psychomotor development [HPO:0001263]
Psychomotor retardation [Orphanet:43510]
Motor retardation (finding) [Orphanet:43510]
Motor retardation [Orphanet:43510]
Psychomotor Impairment [Orphanet:43510]
Cognitive delay [OMIM:Cognitive delay]
Delayed cognitive development [OMIM:Delayed cognitive development]
Delayed development [OMIM:Delayed development]
Delayed developmental milestones [OMIM:Delayed developmental milestones]
Delayed intellectual development [OMIM:Delayed intellectual development]
Delayed milestones [OMIM:Delayed milestones]
Delayed psychomotor development [OMIM:Delayed psychomotor development]
Developmental delay [OMIM:Developmental delay]
Developmental delay in early childhood [OMIM:Developmental delay in early childhood]
Developmental delay, global [OMIM:Developmental delay, global]
Developmental retardation [OMIM:Developmental retardation]
Global developmental delay [OMIM:Global developmental delay]
Lack of psychomotor development [OMIM:Lack of psychomotor development]
Mental and motor retardation [OMIM:Mental and motor retardation]
Psychomotor delay [OMIM:Psychomotor delay]
Psychomotor development failure [OMIM:Psychomotor development failure]
Psychomotor retardation [OMIM:Psychomotor retardation]
Psychomotor retardation, severe [OMIM:Psychomotor retardation, severe]
Retarded development [OMIM:Retarded development]
Retarded mental development [OMIM:Retarded mental development]
Retarded psychomotor development [OMIM:Retarded psychomotor development]
Intellectual deficit/mental/psychomotor retardation/learning disability [Orphanet:43510]
Psychomotor retardation [MedDRA:10037213]
Delayed cognitive development (in some patients) [OMIM:Delayed cognitive development (in some patients)]
Delayed development (1 family) [OMIM:Delayed development (1 family)]
Delayed development (about 25%) [OMIM:Delayed development (about 25%)]
Delayed development (in some patients) [OMIM:Delayed development (in some patients)]
Delayed development (in some) [OMIM:Delayed development (in some)]
Delayed psychomotor development (1 patient) [OMIM:Delayed psychomotor development (1 patient)]
Delayed psychomotor development (in 1 family) [OMIM:Delayed psychomotor development (in 1 family)]
Delayed psychomotor development (in most patients) [OMIM:Delayed psychomotor development (in most patients)]
Delayed psychomotor development (in severe cases) [OMIM:Delayed psychomotor development (in severe cases)]
Delayed psychomotor development (in some patients) [OMIM:Delayed psychomotor development (in some patients)]
Delayed psychomotor development (in some) [OMIM:Delayed psychomotor development (in some)]
Delayed psychomotor development (mild to severe) [OMIM:Delayed psychomotor development (mild to severe)]
Delayed psychomotor development (stops at development levels of 1-2 years) [OMIM:Delayed psychomotor development (stops at development levels of 1-2 years)]
Developmental delay (1 family) [OMIM:Developmental delay (1 family)]
Developmental delay (100%) [OMIM:Developmental delay (100%)]
Developmental delay (20%) [OMIM:Developmental delay (20%)]
Developmental delay (apparent after the first year of life) [OMIM:Developmental delay (apparent after the first year of life)]
Developmental delay (female) [OMIM:Developmental delay (female)]
Developmental delay (homozygote) [OMIM:Developmental delay (homozygote)]
Developmental delay (in 1 patient) [OMIM:Developmental delay (in 1 patient)]
Developmental delay (in most patients) [OMIM:Developmental delay (in most patients)]
Developmental delay (in some patients who survive infancy) [OMIM:Developmental delay (in some patients who survive infancy)]
Developmental delay (in some patients) [OMIM:Developmental delay (in some patients)]
Developmental delay (in some) [OMIM:Developmental delay (in some)]
Developmental delay (microdeletion patients only) [OMIM:Developmental delay (microdeletion patients only)]
Developmental delay (mild-severe) [OMIM:Developmental delay (mild-severe)]
Developmental delay (rare) [OMIM:Developmental delay (rare)]
Developmental delay (seen in recessive form) [OMIM:Developmental delay (seen in recessive form)]
Developmental delay (type II) [OMIM:Developmental delay (type II)]
Developmental delay (uncommon) [OMIM:Developmental delay (uncommon)]
Lack of psychomotor development (1 patient) [OMIM:Lack of psychomotor development (1 patient)]
Lack of psychomotor development (severe connatal form) [OMIM:Lack of psychomotor development (severe connatal form)]
Psychomotor delay (evident at 3 months) [OMIM:Psychomotor delay (evident at 3 months)]
Psychomotor delay (in one family) [OMIM:Psychomotor delay (in one family)]
Psychomotor delay (rare) [OMIM:Psychomotor delay (rare)]
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)]
Severe psychomotor retardation (IQ 35-65) [OMIM:Severe psychomotor retardation (IQ 35-65)]
Motor developmental delay [MedDRA:10070302]
Developmental delay [MedDRA:10012559]
Quality:
Cross references:
HPO:0001249 "Intellectual disability" [Orphanet:43510]
HPO:0001270 "Motor delay" [Orphanet:43510]
Orphanet:43510 "Intellectual deficit/mental/psychomotor retardation/learning disability" [Orphanet:43510]
OMIM: "Cognitive delay" [OMIM:Cognitive delay]
OMIM: "Delayed cognitive development" [OMIM:Delayed cognitive development]
OMIM: "Delayed development" [OMIM:Delayed development]
OMIM: "Delayed developmental milestones" [OMIM:Delayed developmental milestones]
OMIM: "Delayed intellectual development" [OMIM:Delayed intellectual development]
OMIM: "Delayed milestones" [OMIM:Delayed milestones]
OMIM: "Delayed psychomotor development" [OMIM:Delayed psychomotor development]
OMIM: "Developmental delay" [OMIM:Developmental delay]
OMIM: "Developmental delay in early childhood" [OMIM:Developmental delay in early childhood]
OMIM: "Developmental delay, global" [OMIM:Developmental delay, global]
OMIM: "Developmental retardation" [OMIM:Developmental retardation]
OMIM: "Global developmental delay" [OMIM:Global developmental delay]
OMIM: "Lack of psychomotor development" [OMIM:Lack of psychomotor development]
OMIM: "Mental and motor retardation" [OMIM:Mental and motor retardation]
OMIM: "Psychomotor delay" [OMIM:Psychomotor delay]
OMIM: "Psychomotor development failure" [OMIM:Psychomotor development failure]
OMIM: "Psychomotor retardation" [OMIM:Psychomotor retardation]
OMIM: "Psychomotor retardation, severe" [OMIM:Psychomotor retardation, severe]
OMIM: "Retarded development" [OMIM:Retarded development]
OMIM: "Retarded mental development" [OMIM:Retarded mental development]
OMIM: "Retarded psychomotor development" [OMIM:Retarded psychomotor development]
OMIM: "Delayed cognitive development (in some patients)" [OMIM:Delayed cognitive development (in some patients)]
OMIM: "Delayed development (1 family)" [OMIM:Delayed development (1 family)]
OMIM: "Delayed development (about 25%)" [OMIM:Delayed development (about 25%)]
OMIM: "Delayed development (in some patients)" [OMIM:Delayed development (in some patients)]
OMIM: "Delayed development (in some)" [OMIM:Delayed development (in some)]
OMIM: "Delayed psychomotor development (1 patient)" [OMIM:Delayed psychomotor development (1 patient)]
OMIM: "Delayed psychomotor development (in 1 family)" [OMIM:Delayed psychomotor development (in 1 family)]
OMIM: "Delayed psychomotor development (in most patients)" [OMIM:Delayed psychomotor development (in most patients)]
OMIM: "Delayed psychomotor development (in severe cases)" [OMIM:Delayed psychomotor development (in severe cases)]
OMIM: "Delayed psychomotor development (in some patients)" [OMIM:Delayed psychomotor development (in some patients)]
OMIM: "Delayed psychomotor development (in some)" [OMIM:Delayed psychomotor development (in some)]
OMIM: "Delayed psychomotor development (mild to severe)" [OMIM:Delayed psychomotor development (mild to severe)]
OMIM: "Delayed psychomotor development (stops at development levels of 1-2 years)" [OMIM:Delayed psychomotor development (stops at development levels of 1-2 years)]
OMIM: "Developmental delay (1 family)" [OMIM:Developmental delay (1 family)]
OMIM: "Developmental delay (100%)" [OMIM:Developmental delay (100%)]
OMIM: "Developmental delay (20%)" [OMIM:Developmental delay (20%)]
OMIM: "Developmental delay (apparent after the first year of life)" [OMIM:Developmental delay (apparent after the first year of life)]
OMIM: "Developmental delay (female)" [OMIM:Developmental delay (female)]
OMIM: "Developmental delay (homozygote)" [OMIM:Developmental delay (homozygote)]
OMIM: "Developmental delay (in 1 patient)" [OMIM:Developmental delay (in 1 patient)]
OMIM: "Developmental delay (in most patients)" [OMIM:Developmental delay (in most patients)]
OMIM: "Developmental delay (in some patients who survive infancy)" [OMIM:Developmental delay (in some patients who survive infancy)]
OMIM: "Developmental delay (in some patients)" [OMIM:Developmental delay (in some patients)]
OMIM: "Developmental delay (in some)" [OMIM:Developmental delay (in some)]
OMIM: "Developmental delay (microdeletion patients only)" [OMIM:Developmental delay (microdeletion patients only)]
OMIM: "Developmental delay (mild-severe)" [OMIM:Developmental delay (mild-severe)]
OMIM: "Developmental delay (rare)" [OMIM:Developmental delay (rare)]
OMIM: "Developmental delay (seen in recessive form)" [OMIM:Developmental delay (seen in recessive form)]
OMIM: "Developmental delay (type II)" [OMIM:Developmental delay (type II)]
OMIM: "Developmental delay (uncommon)" [OMIM:Developmental delay (uncommon)]
OMIM: "Lack of psychomotor development (1 patient)" [OMIM:Lack of psychomotor development (1 patient)]
OMIM: "Lack of psychomotor development (severe connatal form)" [OMIM:Lack of psychomotor development (severe connatal form)]
OMIM: "Psychomotor delay (evident at 3 months)" [OMIM:Psychomotor delay (evident at 3 months)]
OMIM: "Psychomotor delay (in one family)" [OMIM:Psychomotor delay (in one family)]
OMIM: "Psychomotor delay (rare)" [OMIM:Psychomotor delay (rare)]
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)]
OMIM: "Severe psychomotor retardation (IQ 35-65)" [OMIM:Severe psychomotor retardation (IQ 35-65)]
UMLS:C0424230 "Motor retardation" [Orphanet:43510]
UMLS:C0679465 "Psychomotor Impairment" [Orphanet:43510]
Is a (Direct Parents):
Orphanet Functional anomalies of the nervous system
HPO         Cognitive impairment
Orphanet Intellectual disability
MedDRA General signs and symptoms NEC
MedDRA Developmental motor skills disorders
MedDRA Mood alterations with depressive symptoms
HPO         Profound global developmental delay
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)
                   Global developmental delay(HPO:0001263)
MedDRA:
General disorders and administration site conditions(MedDRA:10018065)
    General system disorders NEC(MedDRA:10018073)
       General signs and symptoms NEC(MedDRA:10018072)
          Global developmental delay(HPO:0001263)
Database Frequency: 853 / 7739
Resource:

All diseases associated with this symptom:

14q11.2 microdeletion syndrome (Orphanet:261120)
15q24 microdeletion syndrome (Orphanet:94065)
16p11.2p12.2 microdeletion syndrome (Orphanet:261211)
17p11.2 microduplication syndrome (Orphanet:1713)
17q11.2 microduplication syndrome (Orphanet:139474)
17q23.1q23.2 microdeletion syndrome (Orphanet:261279)
19q13.11 microdeletion syndrome (Orphanet:217346)
1p36 deletion syndrome (Orphanet:1606)
1q41q42 microdeletion syndrome (Orphanet:250999)
2,4-@DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
2-aminoadipic 2-oxoadipic aciduria (Orphanet:79154)
2-methylbutyryl-CoA dehydrogenase deficiency (Orphanet:79157)
22q11.2 deletion syndrome (Orphanet:567)
22q11.2 microduplication syndrome (Orphanet:1727)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
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-phosphoserine phosphatase deficiency (Orphanet:79350)
3C syndrome (Orphanet:7)
3MC SYNDROME 2 (OMIM:265050)
3q29 microdeletion syndrome (Orphanet:65286)
3q29 microduplication (Orphanet:251038)
4-hydroxybutyric aciduria (Orphanet:22)
48,XXYY syndrome (Orphanet:10)
4q21 microdeletion syndrome (Orphanet:238750)
5p13 microduplication syndrome (Orphanet:329802)
6-pyruvoyl-tetrahydropterin synthase deficiency (Orphanet:13)
8q22.1 microdeletion syndrome (Orphanet:178303)
ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY (OMIM:614055)
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
ADAMS-OLIVER SYNDROME 3 (OMIM:614814)
AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA (OMIM:613623)
AICA-ribosiduria (Orphanet:250977)
AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
ALDH18A1-related De Barsy syndrome (Orphanet:35664)
ALG1-CDG (Orphanet:79327)
ALG11-CDG (Orphanet:280071)
ALG13-CDG (Orphanet:324422)
ALG2-CDG (Orphanet:79326)
ALG3-CDG (Orphanet:79321)
ALG6-CDG (Orphanet:79320)
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 (OMIM:614820)
APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIALDYSMORPHISM, AND OTHER CONGENITAL ANOMALIES (OMIM:300887)
ARIMA SYNDROME (OMIM:243910)
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTICATROPHY AND MENTAL RETARDATION (OMIM:270500)
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Acro-cardio-facial syndrome (Orphanet:2008)
Acute infantile liver failure-multisystemic involvement syndrome (Orphanet:370088)
Adams-Oliver syndrome (Orphanet:974)
Adenylosuccinate lyase deficiency (Orphanet:46)
Aicardi-Goutières syndrome (Orphanet:51)
Aldosterone-producing adenoma with seizures and neurological abnormalities (Orphanet:369929)
Alpers syndrome (Orphanet:726)
Alpha-N-acetylgalactosaminidase deficiency (Orphanet:3137)
Alpha-mannosidosis (Orphanet:61)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Alström syndrome (Orphanet:64)
Amelo-cerebro-hypohidrotic syndrome (Orphanet:1946)
Amish infantile epilepsy syndrome (Orphanet:171714)
Angelman syndrome (Orphanet:72)
Anophthalmia/microphthalmia - esophageal atresia (Orphanet:77298)
Arginine:glycine amidinotransferase deficiency (Orphanet:35704)
Argininemia (Orphanet:90)
Argininosuccinic aciduria (Orphanet:23)
Aromatic L-amino acid decarboxylase deficiency (Orphanet:35708)
Arterial calcification, generalized, of infancy, 1 (OMIM:208000)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
Atrioventricular defect - blepharophimosis -radial defects (Orphanet:1352)
Atypical Rett syndrome (Orphanet:3095)
Autism spectrum disorder-epilepsy-arthrogryposis syndrome (Orphanet:370943)
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (Orphanet:308410)
Autosomal dominant Opitz G/BBB syndrome (Orphanet:306588)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant spastic paraplegia type 9 (Orphanet:100990)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit (Orphanet:284282)
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome (Orphanet:363429)
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 2B (Orphanet:357064)
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (Orphanet:254334)
Autosomal recessive limb-girdle muscular dystrophy type 2M (Orphanet:206554)
Autosomal recessive limb-girdle muscular dystrophy type 2P (Orphanet:280333)
Autosomal recessive limb-girdle muscular dystrophy type 2S (Orphanet:369840)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (Orphanet:331176)
Autosomal recessive spastic paraplegia type 11 (Orphanet:2822)
Autosomal recessive spastic paraplegia type 20 (Orphanet:101000)
Autosomal recessive spastic paraplegia type 45 (Orphanet:320396)
Autosomal recessive spastic paraplegia type 49 (Orphanet:320385)
Autosomal recessive spastic paraplegia type 53 (Orphanet:319199)
Autosomal recessive spastic paraplegia type 54 (Orphanet:320380)
Autosomal recessive spastic paraplegia type 55 (Orphanet:320375)
B4GALT1-CDG (Orphanet:79332)
BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
BARATELA-SCOTT SYNDROME (OMIM:300881)
BARTTER SYNDROME, ANTENATAL, TYPE 1 (OMIM:601678)
BARTTER SYNDROME, ANTENATAL, TYPE 2 (OMIM:241200)
BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION (OMIM:210050)
BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUSADDUCTUS, AND DEVELOPMENTAL DELAY (OMIM:112370)
BRACHYDACTYLY, COLOBOMA, AND ANTERIOR SEGMENT DYSGENESIS (OMIM:610023)
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
BRESEK syndrome (Orphanet:85284)
Bangstad syndrome (Orphanet:1227)
Baraitser-Winter syndrome (Orphanet:2995)
Bardet-Biedl syndrome (Orphanet:110)
Bardet-Biedl syndrome 1 (OMIM:209900 )
Bardet-Biedl syndrome 10 (OMIM:615987)
Bardet-Biedl syndrome 12 (OMIM:615989)
Bardet-Biedl syndrome 14 (OMIM:615991)
Bardet-Biedl syndrome 16 (OMIM:615993)
Bardet-Biedl syndrome 17 (OMIM:615994)
Bardet-Biedl syndrome 2 (OMIM:615981)
Bardet-Biedl syndrome 4 (OMIM:615982)
Bardet-Biedl syndrome 6 (OMIM:605231)
Bardet-Biedl syndrome 7 (OMIM:615984)
Bardet-Biedl syndrome 8 (OMIM:615985)
Bardet-Biedl syndrome 9 (OMIM:615986)
Barth syndrome (Orphanet:111)
Bartter syndrome (Orphanet:112)
Behr syndrome (Orphanet:1239)
Benign familial neonatal seizures (Orphanet:1949)
Berardinelli-Seip congenital lipodystrophy (Orphanet:528)
Beta-propeller protein-associated neurodegeneration (Orphanet:329284)
Bifunctional enzyme deficiency (Orphanet:300)
Bilateral frontal polymicrogyria (Orphanet:208444)
Bilateral frontoparietal polymicrogyria (Orphanet:101070)
Biotinidase deficiency (Orphanet:79241)
Blepharophimosis-intellectual deficit syndrome, MKB type (Orphanet:293707)
Bloom syndrome (Orphanet:125)
Bohring-Opitz syndrome (Orphanet:97297)
Brachytelephalangic chondrodysplasia punctata (Orphanet:79345)
Brain-lung-thyroid syndrome (Orphanet:209905)
C syndrome (Orphanet:1308)
CADDS (Orphanet:369942)
CAMOS syndrome (Orphanet:83472)
CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III (OMIM:611929)
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASEDEFICIENCY 1 (OMIM:604377)
CARDIOFACIOCUTANEOUS SYNDROME 2 (OMIM:615278)
CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
CATEL-MANZKE SYNDROME (OMIM:616145)
CEDNIK syndrome (Orphanet:66631)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME1 (OMIM:224050)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME2 (OMIM:610185)
CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE (OMIM:302950)
CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY (OMIM:215510)
CHROMOSOME 15q11.2 DELETION SYNDROME (OMIM:615656)
CHROMOSOME 15q25 DELETION SYNDROME (OMIM:614294)
CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KBFRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(p12.1), INCLUDED (OMIM:136570)
CHROMOSOME 16q22 DELETION SYNDROME (OMIM:614541)
CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
CHROMOSOME 1p32-p31 DELETION SYNDROME (OMIM:613735)
CHROMOSOME 22q13 DUPLICATION SYNDROME (OMIM:615538)
CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME (OMIM:613603)
CHROMOSOME 5q12 DELETION SYNDROME (OMIM:615668)
CHROMOSOME 6q11-q14 DELETION SYNDROMECHROMOSOME 6q13-q14 DELETION SYNDROME, INCLUDED (OMIM:613544)
CK syndrome (Orphanet:251383)
CLN1 disease (Orphanet:228329)
CLN7 disease (Orphanet:228366)
CODAS syndrome (Orphanet:1458)
COG1-CDG (Orphanet:263508)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918)
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTALDELAY (OMIM:616266)
CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
CORNELIA DE LANGE SYNDROME 3 (OMIM:610759)
CORNELIA DE LANGE SYNDROME 4 (OMIM:614701)
CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 (OMIM:615411)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 (OMIM:615412)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 (OMIM:615771)
CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS (OMIM:608279)
CREE MENTAL RETARDATION SYNDROME (OMIM:606851)
CULLER-JONES SYNDROME (OMIM:615849)
Camptodactyly - tall stature - scoliosis - hearing loss (Orphanet:85164)
Carbamoylphosphate synthetase deficiency (Orphanet:147)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Cataract-congenital heart disease-neural tube defect syndrome (Orphanet:314993)
Catel-Manzke syndrome (Orphanet:1388)
Cerebellar ataxia, Cayman type (Orphanet:94122)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (Orphanet:293955)
Choroideremia - deafness - obesity (Orphanet:1435)
Christianson syndrome (Orphanet:85278)
Citrullinemia type I (Orphanet:247525)
Classic maple syrup urine disease (Orphanet:268145)
Classical phenylketonuria (Orphanet:79254)
Cobblestone lissencephaly without muscular or ocular involvement (Orphanet:352682)
Combined immunodeficiency with facio-oculo-skeletal anomalies (Orphanet:221139)
Combined malonic and methylmalonic acidemia (Orphanet:289504)
Combined oxidative phosphorylation defect type 13 (Orphanet:319514)
Combined oxidative phosphorylation defect type 14 (Orphanet:319519)
Combined oxidative phosphorylation defect type 15 (Orphanet:319524)
Combined oxidative phosphorylation defect type 17 (Orphanet:369913)
Combined oxidative phosphorylation defect type 7 (Orphanet:254930)
Combined oxidative phosphorylation defect type 9 (Orphanet:319509)
Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay (Orphanet:330054)
Congenital cataract-hearing loss-severe developmental delay syndrome (Orphanet:300313)
Congenital cataracts - facial dysmorphism - neuropathy (Orphanet:48431)
Congenital ichthyosis - intellectual deficit - spastic quadriplegia (Orphanet:352333)
Congenital intrauterine infection-like syndrome (Orphanet:1229)
Congenital lactic acidosis, Saguenay-Lac-St. Jean type (Orphanet:70472)
Congenital muscular dystrophy type 1A (Orphanet:258)
Congenital muscular dystrophy with intellectual disability and severe epilepsy (Orphanet:329178)
Connective tissue disorder due to lysyl hydroxylase-3 deficiency (Orphanet:300284)
Constitutional megaloblastic anemia with severe neurologic disease (Orphanet:319651)
Contractures - ectodermal dysplasia - cleft lip/palate (Orphanet:1484)
Corpus callosum agenesis - neuronopathy (Orphanet:1496)
Cortical blindness - intellectual deficit - polydactyly (Orphanet:1389)
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (Orphanet:300570)
Costello syndrome (Orphanet:3071)
Craniofrontonasal dysplasia (Orphanet:1520)
Craniosynostosis - anal anomalies - porokeratosis (Orphanet:85199)
Craniotelencephalic dysplasia (Orphanet:1528)
Currarino triad (Orphanet:1552)
Cutis gyrata - acanthosis nigricans - craniosynostosis (Orphanet:1555)
Cystinosis (Orphanet:213)
D,L-2-hydroxyglutaric aciduria (Orphanet:356978)
D-2-@HYDROXYGLUTARIC ACIDURIA 2 (OMIM:613657)
D-2-hydroxyglutaric aciduria (Orphanet:79315)
D-glyceric aciduria (Orphanet:941)
DDOST-CDG (Orphanet:300536)
DEND syndrome (Orphanet:79134)
DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS (OMIM:606164)
DIAMOND-BLACKFAN ANEMIA 5 (OMIM:612528)
DIGEORGE SYNDROME (OMIM:188400)
DK1-CDG (Orphanet:91131)
DPAGT1-CDG (Orphanet:86309)
DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2 (OMIM:613989)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 5 (OMIM:615190)
De Barsy syndrome (Orphanet:2962)
Dehydratase deficiency (Orphanet:1578)
Dent disease type 2 (Orphanet:93623)
Desmosterolosis (Orphanet:35107)
Developmental delay with autism spectrum disorder and gait instability (Orphanet:329195)
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type (Orphanet:363444)
Diaphanospondylodysostosis (Orphanet:66637)
Dihydropteridine reductase deficiency (Orphanet:226)
Distal 22q11.2 microdeletion syndrome (Orphanet:261330)
Distal monosomy 10q (Orphanet:96148)
Distal monosomy 15q (Orphanet:1596)
Distal monosomy 6p (Orphanet:96125)
Donnai-Barrow syndrome (Orphanet:2143)
Dopa-responsive dystonia due to sepiapterin reductase deficiency (Orphanet:70594)
Dravet syndrome (Orphanet:33069)
Dysequilibrium syndrome (Orphanet:1766)
Dysmorphism - conductive hearing loss - heart defect (Orphanet:289553)
EAST syndrome (Orphanet:199343)
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1 (OMIM:130070)
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 (OMIM:615349)
ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNELDEFICIENCY (OMIM:614520)
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET (OMIM:615369)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (OMIM:613721)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 (OMIM:614558)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 (OMIM:615006)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 (OMIM:615473)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 (OMIM:615744)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 (OMIM:300672)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 (OMIM:615833)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 (OMIM:615859)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 (OMIM:616056)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 (OMIM:616139)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 (OMIM:616211)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 (OMIM:616339)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30 (OMIM:616341)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
Early infantile epileptic encephalopathy without suppression burst (Orphanet:369894)
Early-onset X-linked optic atrophy (Orphanet:98890)
Early-onset parkinsonism - intellectual deficit (Orphanet:2379)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Ehlers-Danlos syndrome, progeroid type (Orphanet:75496)
Emanuel syndrome (Orphanet:96170)
Encephalocraniocutaneous lipomatosis (Orphanet:2396)
Encephalopathy due to GLUT1 deficiency (Orphanet:71277)
Encephalopathy due to hydroxykynureninuria (Orphanet:79155)
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome (Orphanet:319678)
Endosteal sclerosis - cerebellar hypoplasia (Orphanet:85186)
Epileptic encephalopathy with continuous spike-and-wave during sleep (Orphanet:725)
Epileptic encephalopathy with global cerebral demyelination (Orphanet:353217)
Ethylmalonic encephalopathy (Orphanet:51188)
FANCONI ANEMIA, COMPLEMENTATION GROUP J (OMIM:609054)
FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
FG SYNDROME 4 (OMIM:300422)
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULARINVOLVEMENT (OMIM:600638)
FORSYTHE-WAKELING SYNDROME (OMIM:613606)
FRONTOOCULAR SYNDROME (OMIM:605321)
Familial hemophagocytic lymphohistiocytosis (Orphanet:540)
Familial primary hypomagnesemia with normocalcuria and normocalcemia (Orphanet:34527)
Fatal infantile cytochrome C oxidase deficiency (Orphanet:1561)
Fatal infantile lactic acidosis with methylmalonic aciduria (Orphanet:17)
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (Orphanet:168566)
Fatal multiple mitochondrial dysfunction syndrome (Orphanet:289573)
Female restricted epilepsy with intellectual deficit (Orphanet:101039)
Fine-Lubinsky syndrome (Orphanet:1272)
Free sialic acid storage disease, infantile form (Orphanet:309324)
Fumaric aciduria (Orphanet:24)
GCS1-CDG (Orphanet:79330)
GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 (OMIM:616172)
GM2-gangliosidosis, AB variant (Orphanet:309246)
GTP cyclohydrolase I deficiency (Orphanet:2102)
Galactose epimerase deficiency (Orphanet:79238)
Galloway-Mowat syndrome (Orphanet:2065)
Gamma-aminobutyric acid transaminase deficiency (Orphanet:2066)
Gaucher disease - ophthalmoplegia - cardiovascular calcification (Orphanet:2072)
Gaucher disease type 1 (Orphanet:77259)
Gaucher disease type 2 (Orphanet:77260)
Gaucher disease type 3 (Orphanet:77261)
Geleophysic dysplasia (Orphanet:2623)
Genitopatellar syndrome (Orphanet:85201)
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 acid maltase deficiency, infantile onset (Orphanet:308552)
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (Orphanet:713)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
Griscelli disease (Orphanet:381)
Griscelli disease type 1 (Orphanet:79476)
Growth deficiency - brachydactyly - dysmorphism (Orphanet:2055)
Grubben-de Cock-Borghgraef syndrome (Orphanet:2101)
Guanidinoacetate methyltransferase deficiency (Orphanet:382)
HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1 (OMIM:267700)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
HOLOPROSENCEPHALY 11 (OMIM:614226)
HOLOPROSENCEPHALY 2 (OMIM:157170)
HOLOPROSENCEPHALY 5 (OMIM:609637)
HOLOPROSENCEPHALY 7 (OMIM:610828)
HOLOPROSENCEPHALY 9 (OMIM:610829)
HYDROCEPHALUS, NORMAL-PRESSURE (OMIM:236690)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5 (OMIM:616025)
Hartnup syndrome (Orphanet:2116)
Hartsfield-Bixler-Demyer syndrome (Orphanet:2117)
Hemolytic anemia due to adenylate kinase deficiency (Orphanet:86817)
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (Orphanet:137681)
Hereditary folate malabsorption (Orphanet:90045)
Hereditary fructose intolerance (Orphanet:469)
Hereditary orotic aciduria (Orphanet:30)
Hereditary sensory and autonomic neuropathy type 4 (Orphanet:642)
Histidinemia (Orphanet:2157)
Holocarboxylase synthetase deficiency (Orphanet:79242)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency (Orphanet:395)
Hoyeraal-Hreidarsson syndrome (Orphanet:3322)
Hurler syndrome (Orphanet:93473)
Hurler-Scheie syndrome (Orphanet:93476)
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly (Orphanet:2180)
Hyperammonemia due to N-acetylglutamate synthetase deficiency (Orphanet:927)
Hyperlysinemia due to defect in lysine transport into mitochondria (OMIM:238710)
Hyperlysinemia, type I (OMIM:238700)
Hypermethioninemia encephalopathy due to adenosine kinase deficiency (Orphanet:289290)
Hyperornithinemia-hyperammonemia-homocitrullinuria (Orphanet:415)
Hyperprolinemia type 1 (Orphanet:419)
Hypertelorism-microtia-facial clefting syndrome (Orphanet:2213)
Hypertryptophanemia (Orphanet:2224)
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome (Orphanet:363694)
Hypomyelination - congenital cataract (Orphanet:85163)
Hypotonia - cystinuria syndrome (Orphanet:163690)
Hypotonia - failure to thrive - microcephaly (Orphanet:79507)
Hypotonia-speech impairment-severe cognitive delay syndrome (Orphanet:371364)
IMAGe syndrome (Orphanet:85173)
IMMUNODEFICIENCY 23 (OMIM:615816)
IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY (OMIM:600546)
Ichthyosis follicularis - alopecia - photophobia (Orphanet:2273)
Infantile dystonia-parkinsonism (Orphanet:238455)
Infantile neuroaxonal dystrophy (Orphanet:35069)
Infantile onset spinocerebellar ataxia (Orphanet:1186)
Inherited congenital spastic tetraplegia (Orphanet:210141)
Intellectual deficit - alacrima - achalasia (Orphanet:289483)
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures (Orphanet:1568)
Intellectual deficit, X-linked - craniofacioskeletal syndrome (Orphanet:163979)
Intellectual deficit, X-linked - psychosis - macroorchidism (Orphanet:3077)
Intellectual deficit, X-linked, Cantagrel type (Orphanet:85277)
Intellectual deficit, X-linked, Kroes type (Orphanet:163961)
Intellectual deficit, X-linked, Wilson type (Orphanet:85290)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome (Orphanet:363611)
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome (Orphanet:369837)
Isolated 3-methylcrotonyl-CoA carboxylase deficiency (Orphanet:6)
Isolated ATP synthase deficiency (Orphanet:254913)
Isolated CoQ-cytochrome C reductase deficiency (Orphanet:1460)
Isolated NADH-CoQ reductase deficiency (Orphanet:2609)
Isolated cytochrome C oxidase deficiency (Orphanet:254905)
Isolated glycerol kinase deficiency (Orphanet:408)
Isolated growth hormone deficiency type III (Orphanet:231692)
Isolated plagiocephaly (Orphanet:35098)
Isolated sulfite oxidase deficiency (Orphanet:99731)
Isovaleric acidemia (Orphanet:33)
Joubert syndrome (Orphanet:475)
Joubert syndrome 1 (OMIM:213300)
Joubert syndrome 15 (OMIM:614464)
Joubert syndrome 17 (OMIM:614615)
Joubert syndrome 2 (OMIM:608091)
Joubert syndrome 20 (OMIM:614970)
Joubert syndrome 21 (OMIM:615636)
Joubert syndrome 22 (OMIM:615665)
Joubert syndrome 5 (OMIM:610188)
Joubert syndrome 6 (OMIM:610688)
Joubert syndrome 8 (OMIM:612291)
Joubert syndrome with hepatic defect (Orphanet:1454)
Joubert syndrome with oculorenal defect (Orphanet:2318)
Joubert syndrome with orofaciodigital defect (Orphanet:2754)
KABUKI SYNDROME 1 (OMIM:147920)
KABUKI SYNDROME 2 (OMIM:300867)
KAGAMI-OGATA SYNDROME (OMIM:608149)
KBG syndrome (Orphanet:2332)
KERATOCONUS POSTICUS CIRCUMSCRIPTUS (OMIM:244600)
KETOADIPICACIDURIA (OMIM:245130)
Kabuki syndrome (Orphanet:2322)
Koolen-De Vries syndrome (Orphanet:96169)
Kostmann syndrome (Orphanet:99749)
LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Landau-Kleffner syndrome (Orphanet:98818)
Larsen-like osseous dysplasia - short stature (Orphanet:2370)
Leber congenital amaurosis 11 (OMIM:613837)
Leber plus disease (Orphanet:99718)
Leigh syndrome (Orphanet:506)
Leigh syndrome with leukodystrophy (Orphanet:255241)
Leprechaunism (Orphanet:508)
Lesch-Nyhan syndrome (Orphanet:510)
Lethal ataxia with deafness and optic atrophy (Orphanet:1187)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
Lethal polymalformative syndrome, Boissel type (Orphanet:210144)
Leukoencephalopathy - ataxia - hypodontia - hypomyelination (Orphanet:137639)
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate (Orphanet:314051)
Lissencephaly due to LIS1 mutation (Orphanet:95232)
Loeys-Dietz syndrome type 1 (Orphanet:60030)
Lowry-MacLean syndrome (Orphanet:2409)
Lymphangioleiomyomatosis (Orphanet:538)
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY (OMIM:606369)
MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
MEDNIK syndrome (Orphanet:171851)
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 (OMIM:615938)
MEGDEL syndrome (Orphanet:352328)
MEIER-GORLIN SYNDROME 5 (OMIM:613805)
MELAS (Orphanet:550)
MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY,AND SHORT STATURE (OMIM:609037)
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 (OMIM:615009)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 (OMIM:615074)
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 30 (OMIM:616083)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 (OMIM:616268)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (OMIM:612621)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 (OMIM:614255)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 (OMIM:614202)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2 (OMIM:607417)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 (OMIM:614340)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 (OMIM:608443)
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 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, X-LINKED 101 (OMIM:300928)
MENTAL RETARDATION, X-LINKED 72 (OMIM:300271)
MENTAL RETARDATION, X-LINKED 89 (OMIM:300848)
MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
MENTAL RETARDATION, X-LINKED 91 (OMIM:300577)
MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHUDLEY-SCHWARTZ TYPE (OMIM:300861)
MERRF (Orphanet:551)
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICALMALFORMATIONS (OMIM:604317)
MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604804)
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 (OMIM:616335)
MICROCEPHALY WITH SPASTIC QUADRIPLEGIA (OMIM:251280)
MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE (OMIM:601420)
MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE (OMIM:612947)
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLARATROPHY (OMIM:615760)
MICROHYDRANENCEPHALY (OMIM:605013)
MICROPHTHALMIA WITH CYST, BILATERAL FACIAL CLEFTS, AND LIMB ANOMALIES (OMIM:607597)
MICROPHTHALMIA, SYNDROMIC 11 (OMIM:614402)
MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA (OMIM:608624)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615159)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616111)
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
MITOCHONDRIAL MYOPATHY (OMIM:251900)
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
MOVED TO 614732 (OMIM:300290)
MPDU1-CDG (Orphanet:79323)
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 (OMIM:614299)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11 (OMIM:615181)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12 (OMIM:615249)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 13 (OMIM:615287)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 14 (OMIM:615350)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 8 (OMIM:614830)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 1 (OMIM:613155)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 (OMIM:615351)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 6 (OMIM:608840)
MYASTHENIC SYNDROME, CONGENITAL, 18 (OMIM:616330)
MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE,AND PSYCHOMOTOR DELAY (OMIM:601347)
MYOPATHY, AUTOPHAGIC VACUOLAR, INFANTILE-ONSET (OMIM:609500)
Macrocephaly-autism syndrome (Orphanet:210548)
Malonic aciduria (Orphanet:943)
Mandibulofacial dysostosis-microcephaly syndrome (Orphanet:79113)
Maple syrup urine disease (Orphanet:511)
Marden-Walker syndrome (Orphanet:2461)
Marfanoid habitus - intellectual deficit, autosomal recessive (Orphanet:2463)
Marinesco-Sjögren syndrome (Orphanet:559)
Maternal hyperphenylalaninemia (Orphanet:2209)
Medium chain acyl-CoA dehydrogenase deficiency (Orphanet:42)
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus (Orphanet:83473)
Megalencephaly-capillary malformation-polymicrogyria syndrome (Orphanet:60040)
Menkes disease (Orphanet:565)
Mesomelic dysplasia, Savarirayan type (Orphanet:85170)
Methylcobalamin deficiency type cblDv1 (Orphanet:308380)
Methylcobalamin deficiency type cblE (Orphanet:2169)
Methylcobalamin deficiency type cblG (Orphanet:2170)
Methylmalonic acidemia with homocystinuria (Orphanet:26)
Methylmalonic acidemia with homocystinuria, type cblC (Orphanet:79282)
Methylmalonic acidemia with homocystinuria, type cblD (Orphanet:79283)
Methylmalonic acidemia with homocystinuria, type cblF (Orphanet:79284)
Methylmalonic acidemia with homocystinuria, type cblJ (Orphanet:369955)
Mevalonic aciduria (Orphanet:29)
Micrencephaly - corpus callosum agenesis - abnormal genitalia (Orphanet:2508)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type (Orphanet:217026)
Microlissencephaly (Orphanet:1083)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Microphthalmia with linear skin defects syndrome (Orphanet:2556)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (Orphanet:1933)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (Orphanet:369897)
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency (Orphanet:279934)
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)
Mitochondrial trifunctional protein deficiency (Orphanet:746)
Monosomy 18p (Orphanet:1598)
Monosomy 22q13 (Orphanet:48652)
Monosomy 9p (Orphanet:261112)
Mowat-Wilson syndrome (Orphanet:2152)
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism (Orphanet:280679)
Mucolipidosis type 2 (Orphanet:576)
Mucolipidosis type 4 (Orphanet:578)
Mucopolysaccharidosis type 1 (Orphanet:579)
Mucopolysaccharidosis type 2, severe form (Orphanet:217085)
Muenke syndrome (Orphanet:53271)
Mulibrey nanism (Orphanet:2576)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
Multiple congenital anomalies - hypotonia - seizures syndrome (Orphanet:280633)
Multiple endocrine neoplasia type 2B (Orphanet:247709)
Multiple sulfatase deficiency (Orphanet:585)
Muscle-eye-brain disease (Orphanet:588)
Myopathy and diabetes mellitus (Orphanet:2596)
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 (OMIM:600462)
N-ACETYLASPARTATE DEFICIENCY (OMIM:614063)
NARP syndrome (Orphanet:644)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
NOONAN SYNDROME 3 (OMIM:609942)
NOONAN SYNDROME 5 (OMIM:611553)
Navajo neurohepatopathy (Orphanet:255229)
Nephronophthisis 15 (OMIM:614845)
Nephronophthisis 2 (OMIM:602088)
Nephronophthisis-like nephropathy 1 (OMIM:613159)
Netherton syndrome (Orphanet:634)
Neurocutaneous melanocytosis (Orphanet:2481)
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency (Orphanet:88639)
Neurodegeneration with brain iron accumulation due to C19orf12 mutation (Orphanet:289560)
Neuroectodermal melanolysosomal disease (Orphanet:33445)
Neurologic Waardenburg-Shah syndrome (Orphanet:163746)
Neurological conditions associated with aminoacylase 1 deficiency (Orphanet:137754)
Niemann-Pick disease type A (Orphanet:77292)
Niemann-Pick disease type C (Orphanet:646)
Non-progressive cerebellar ataxia with intellectual deficit (Orphanet:314647)
Noonan syndrome with multiple lentigines (Orphanet:500)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
Noonan syndrome-like disorder with loose anagen hair (Orphanet:2701)
OCULOCEREBRAL HYPOPIGMENTATION SYNDROME OF PREUS (OMIM:257790)
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
OROFACIODIGITAL SYNDROME VI (OMIM:277170)
OSTEOGENESIS IMPERFECTA, TYPE VIII (OMIM:610915)
OSTEOGENESIS IMPERFECTA, TYPE XV (OMIM:615220)
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA (OMIM:615198)
Occipital pachygyria and polymicrogyria (Orphanet:280640)
Opitz G/BBB syndrome (Orphanet:2745)
Ornithine transcarbamylase deficiency (Orphanet:664)
Orofaciodigital syndrome type 8 (Orphanet:2755)
Orofaciodigital syndrome type 9 (Orphanet:141007)
Osteocraniostenosis (Orphanet:2763)
Osteopetrosis - hypogammaglobulinemia (Orphanet:178389)
PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS (OMIM:600399)
PELGER-HUET ANOMALY (OMIM:169400)
PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
PERIVENTRICULAR NODULAR HETEROTOPIA 6 (OMIM:615544)
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) (OMIM:614883)
PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) (OMIM:614886)
PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
PEROXISOME BIOGENESIS DISORDER 7B (OMIM:614873)
PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
PHACE syndrome (Orphanet:42775)
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY (OMIM:602342)
PMM2-CDG (Orphanet:79318)
POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
PORENCEPHALY 2 (OMIM:614483)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3 (OMIM:609286)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4 (OMIM:610131)
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Pachygyria - epilepsy - intellectual deficit - dysmorphism (Orphanet:94084)
Pachygyria - intellectual deficit - epilepsy (Orphanet:2798)
Pancreatic hypoplasia - diabetes - congenital heart disease (Orphanet:2255)
Pancreatic insufficiency - anemia - hyperostosis (Orphanet:199337)
Pantothenate kinase-associated neurodegeneration (Orphanet:157850)
Paraplegia - brachydactyly - cone-shaped epiphysis (Orphanet:2823)
Paroxysmal exertion-induced dyskinesia (Orphanet:98811)
Partial acquired lipodystrophy (Orphanet:79087)
Pelizaeus-Merzbacher-like disease (Orphanet:280270)
Pelizaeus-Merzbacher-like due to GJC2 mutation (Orphanet:280282)
Pelizaeus-Merzbacher-like due to HSPD1 mutation (Orphanet:280288)
Pellagra-like skin rash-neurological manifestations (Orphanet:2837)
Perlman syndrome (Orphanet:2849)
Permanent neonatal diabetes mellitus (Orphanet:99885)
Peroxisomal acyl-CoA oxidase deficiency (Orphanet:2971)
Perrault Syndrome 1 (OMIM:233400)
Phosphoenolpyruvate carboxykinase 1 deficiency (Orphanet:79316)
Phosphoserine aminotransferase deficiency (Orphanet:284417)
Pili torti - developmental delay - neurological abnormalities (Orphanet:2891)
Polymicrogyria due to TUBB2B mutation (Orphanet:300573)
Polymicrogyria with optic nerve hypoplasia (Orphanet:250972)
Pontine tegmental cap dysplasia (Orphanet:269229)
Pontocerebellar hypoplasia type 1 (Orphanet:2254)
Pontocerebellar hypoplasia type 3 (Orphanet:97249)
Pontocerebellar hypoplasia type 6 (Orphanet:166073)
Pontocerebellar hypoplasia type 7 (Orphanet:284339)
Pontocerebellar hypoplasia type 8 (Orphanet:324569)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Porencephaly-microcephaly-bilateral congenital cataract syndrome (Orphanet:306547)
Prader-Willi syndrome (Orphanet:739)
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome (Orphanet:306558)
Primordial short stature - microdontia - opalescent and rootless teeth (Orphanet:46658)
Progressive myoclonic epilepsy with dystonia (Orphanet:352596)
Prolidase deficiency (Orphanet:742)
Prominent glabella - microcephaly - hypogenitalism (Orphanet:2083)
Propionic acidemia (Orphanet:35)
Pseudoaminopterin syndrome (Orphanet:221120)
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (Orphanet:88618)
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 E2 deficiency (Orphanet:79244)
Pyruvate dehydrogenase E3 deficiency (Orphanet:2394)
Pyruvate dehydrogenase E3-binding protein deficiency (Orphanet:255182)
Pyruvate dehydrogenase deficiency (Orphanet:765)
Pyruvate dehydrogenase phosphatase deficiency (Orphanet:79246)
Qazi-Markouizos syndrome (Orphanet:3010)
RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
RFT1-CDG (Orphanet:244310)
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Rabson-Mendenhall syndrome (Orphanet:769)
Radio-ulnar synostosis - intellectual deficit - hypotonia (Orphanet:3270)
Recessive hereditary methemoglobinemia type 1 (Orphanet:139373)
Recessive hereditary methemoglobinemia type 2 (Orphanet:139380)
Recombinant 8 syndrome (Orphanet:96167)
Recurrent infections-myelofibrosis-nephromegaly syndrome (Orphanet:369852)
Renal cysts and diabetes syndrome (Orphanet:93111)
Renal tubulopathy - encephalopathy - liver failure (Orphanet:254902)
Retinopathy - anemia- central nervous system anomalies (Orphanet:3088)
Ribose 5-phosphate isomerase deficiency (OMIM:608611)
Richards-Rundle syndrome (Orphanet:1399)
Richieri Costa-Pereira syndrome (Orphanet:3102)
Roifman syndrome (Orphanet:353298)
Rolandic epilepsy - speech dyspraxia (Orphanet:163721)
Rosselli-Gulienetti syndrome (Orphanet:90339)
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (Orphanet:353281)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (Orphanet:353284)
SC PHOCOMELIA SYNDROME (OMIM:269000)
SCHAAF-YANG SYNDROME (OMIM:615547)
SECKEL SYNDROME 6 (OMIM:614728)
SECKEL SYNDROME 8 (OMIM:615807)
SENER SYNDROME (OMIM:606156)
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS,AND DEVELOPMENTAL DELAY (OMIM:616084)
SILVER-RUSSELL SYNDROME (OMIM:180860)
SLC35A2-CDG (Orphanet:356961)
SOTOS SYNDROME 1 (OMIM:117550)
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
SPECIFIC LANGUAGE IMPAIRMENT 5 (OMIM:615432)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH CHARACTERISTIC FACIES (OMIM:600093)
SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE (OMIM:613320)
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)
Saccharopinuria (Orphanet:3124)
Salla disease (Orphanet:309334)
Scheie syndrome (Orphanet:93474)
Senior-Boichis syndrome (Orphanet:84081)
Senior-Loken syndrome 9 (OMIM:616629)
Septo-optic dysplasia (Orphanet:3157)
Severe X-linked mitochondrial encephalomyopathy (Orphanet:238329)
Severe combined immunodeficiency due to CORO1A deficiency (Orphanet:228003)
Severe combined immunodeficiency due to adenosine deaminase deficiency (Orphanet:277)
Severe intellectual deficit and progressive spastic paraplegia (Orphanet:280763)
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (Orphanet:369939)
Severe neonatal-onset encephalopathy with microcephaly (Orphanet:209370)
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency (Orphanet:35123)
Short chain acyl-CoA dehydrogenase deficiency (Orphanet:26792)
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome (Orphanet:314394)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Shwachman-Diamond syndrome (Orphanet:811)
Sialuria (Orphanet:3166)
Silver-Russell syndrome (Orphanet:813)
Smith-Magenis syndrome (Orphanet:819)
Sotos syndrome (Orphanet:821)
Spectrin-associated autosomal recessive cerebellar ataxia (Orphanet:352403)
Spinocerebellar ataxia - dysmorphism (Orphanet:1185)
Spinocerebellar ataxia type 21 (Orphanet:98773)
Spinocerebellar ataxia type 5 (Orphanet:98766)
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification (Orphanet:93358)
Sporadic Leigh syndrome (Orphanet:255199)
Steinert myotonic dystrophy (Orphanet:273)
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (Orphanet:206546)
Syndromic microphthalmia type 5 (Orphanet:178364)
Syndromic multisystem autoimmune disease due to Itch deficiency (Orphanet:228426)
TARP syndrome (Orphanet:2886)
TEMPLE-BARAITSER SYNDROME (OMIM:611816)
TERATOCARCINOMA-DERIVED GROWTH FACTOR 1 (OMIM:187395)
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
THYROXINE-BINDING GLOBULIN OF SERUM (OMIM:314200)
TMCO1 defect syndrome (Orphanet:228407)
TMEM165-CDG (Orphanet:314667)
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 (OMIM:234050)
Temtamy syndrome (Orphanet:1777)
Thanatophoric dysplasia type 1 (Orphanet:1860)
Thiamine-responsive encephalopathy (Orphanet:199348)
Thiamine-responsive megaloblastic anemia syndrome (Orphanet:49827)
Thoracic dysplasia-hydrocephalus syndrome (Orphanet:1861)
Thrombocytopenia - absent radius (Orphanet:3320)
Timothy syndrome (Orphanet:65283)
Toriello-Lacassie-Droste syndrome (Orphanet:3339)
Transaldolase deficiency (Orphanet:101028)
Transketolase deficiency (ORPHA:488618)
Trigonocephaly - short stature - developmental delay (Orphanet:3369)
Triose phosphate-isomerase deficiency (Orphanet:868)
Triple A syndrome (Orphanet:869)
Tyrosinemia type 2 (Orphanet:28378)
Upper limb defect - eye and ear abnormalities (Orphanet:2489)
VERHEIJ SYNDROME (OMIM:615583)
VITILIGO, PROGRESSIVE, WITH MENTAL RETARDATION AND URETHRAL DUPLICATION (OMIM:277465)
Vici syndrome (Orphanet:1493)
Vitamin B12-responsive methylmalonic acidemia (Orphanet:28)
Vitamin B12-responsive methylmalonic acidemia type cblA (Orphanet:79310)
Vitamin B12-responsive methylmalonic acidemia type cblB (Orphanet:79311)
Vitamin B12-responsive methylmalonic acidemia, type cblDv2 (Orphanet:308442)
Vitamin B12-unresponsive methylmalonic acidemia (Orphanet:27)
Vitamin B12-unresponsive methylmalonic acidemia type mut- (Orphanet:79312)
Vitamin B12-unresponsive methylmalonic acidemia type mut0 (Orphanet:289916)
WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
WEBB-DATTANI SYNDROME (OMIM:615926)
Waardenburg-Shah syndrome (Orphanet:897)
Warsaw breakage syndrome (Orphanet:280558)
Weaver syndrome (Orphanet:3447)
Weissenbacher- Zweymuller syndrome (Orphanet:3450)
West syndrome (Orphanet:3451)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
Wilson-Turner syndrome (Orphanet:3459)
Wolcott-Rallison syndrome (Orphanet:1667)
Wolf-Hirschhorn syndrome (Orphanet:280)
Wolfram syndrome (Orphanet:3463)
Wolfram syndrome 1 (OMIM:222300)
Wolfram syndrome, mitochondrial form (OMIM:598500)
Woodhouse-Sakati syndrome (Orphanet:3464)
X-linked Opitz G/BBB syndrome (Orphanet:306597)
X-linked creatine transporter deficiency (Orphanet:52503)
X-linked intellectual deficit - cerebellar hypoplasia (Orphanet:137831)
X-linked intellectual deficit, Najm type (Orphanet:163937)
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (Orphanet:324410)
X-linked reticulate pigmentary disorder with systemic manifestations (Orphanet:85453)
X-linked spinocerebellar ataxia type 3 (Orphanet:85297)
XIA-GIBBS SYNDROME (OMIM:615829)
Xq27.3q28 duplication syndrome (Orphanet:261483)
Zellweger-like syndrome without peroxisomal anomalies (Orphanet:50812)
[DEL] ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
[DEL] COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
[DEL] LEIGH SYNDROME, X-LINKED (OMIM:308930)
[DEL] NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
[DEL] SENGERS SYNDROME (OMIM:212350)