Microcephaly

Symptom Information:

Symptom ID: HPO:0000252
Synonyms:
Decreased head circumference [HPO:0000252]
Reduced head circumference [HPO:0000252]
Small head circumference [HPO:0000252]
Small head (finding) [Orphanet:2080]
Microcephalus (disorder) [Orphanet:2080]
Small head [Orphanet:2080]
Microcephaly [Orphanet:2080]
Decreased head circumference [OMIM:Decreased head circumference]
Microcephaly [OMIM:Microcephaly]
Reduced head circumference [OMIM:Reduced head circumference]
Small head circumference [OMIM:Small head circumference]
Microencephaly [Orphanet:2080]
Microcephaly [MedDRA:10027534]
Microcephalic [MedDRA:10027534]
Microcephalus [MedDRA:10027534]
Skull hypoplasia [MedDRA:10027534]
Microencephaly [MedDRA:10068320]
Microcephaly (-12 to -14.5 SD) [OMIM:Microcephaly (-12 to -14.5 SD)]
Microcephaly (-3 to -4 SD) [OMIM:Microcephaly (-3 to -4 SD)]
Microcephaly (-4 SD) [OMIM:Microcephaly (-4 SD)]
Microcephaly (-4 to -5 SD) [OMIM:Microcephaly (-4 to -5 SD)]
Microcephaly (-4 to -7 SD) [OMIM:Microcephaly (-4 to -7 SD)]
Microcephaly (-6 S.D.) [OMIM:Microcephaly (-6 S.D.)]
Microcephaly (1 patient) [OMIM:Microcephaly (1 patient)]
Microcephaly (22%) [OMIM:Microcephaly (22%)]
Microcephaly (3/4 patients) [OMIM:Microcephaly (3/4 patients)]
Microcephaly (50% of patients) [OMIM:Microcephaly (50% of patients)]
Microcephaly (79% of cases) [OMIM:Microcephaly (79% of cases)]
Microcephaly (<3.5 SD below the mean) [OMIM:Microcephaly (<3.5 SD below the mean)]
Microcephaly (about 3 SD below the mean) [OMIM:Microcephaly (about 3 SD below the mean)]
Microcephaly (classic feature) [OMIM:Microcephaly (classic feature)]
Microcephaly (deletion patients) [OMIM:Microcephaly (deletion patients)]
Microcephaly (head circumference -7 to -17 S.D.) [OMIM:Microcephaly (head circumference -7 to -17 S.D.)]
Microcephaly (head circumference 3 to 11 S.D. below mean) [OMIM:Microcephaly (head circumference 3 to 11 S.D. below mean)]
Microcephaly (head circumference 3-11 S.D. below mean) [OMIM:Microcephaly (head circumference 3-11 S.D. below mean)]
Microcephaly (in 1 family) [OMIM:Microcephaly (in 1 family)]
Microcephaly (in 1 of 4 patients) [OMIM:Microcephaly (in 1 of 4 patients)]
Microcephaly (in 1 of 6 patients) [OMIM:Microcephaly (in 1 of 6 patients)]
Microcephaly (in 1 patient) [OMIM:Microcephaly (in 1 patient)]
Microcephaly (in 2 of 3 siblings) [OMIM:Microcephaly (in 2 of 3 siblings)]
Microcephaly (in patients with 'CVS-plus,' CVS+) [OMIM:Microcephaly (in patients with 'CVS-plus,' CVS+)]
Microcephaly (in some patients) [OMIM:Microcephaly (in some patients)]
Microcephaly (less common) [OMIM:Microcephaly (less common)]
Microcephaly (male and female) [OMIM:Microcephaly (male and female)]
Microcephaly (occipitofrontal head circumference, OFC, at or below 3rd centile) [OMIM:Microcephaly (occipitofrontal head circumference, OFC, at or below 3rd centile)]
Microcephaly (rare) [OMIM:Microcephaly (rare)]
Microcephaly (reported in 1 family) [OMIM:Microcephaly (reported in 1 family)]
Microcephaly (reported in 2 patients) [OMIM:Microcephaly (reported in 2 patients)]
Microcephaly (seen in HHS variant) [OMIM:Microcephaly (seen in HHS variant)]
Microcephaly (seen in recessive form) [OMIM:Microcephaly (seen in recessive form)]
Microcephaly (some) [OMIM:Microcephaly (some)]
Microcephaly (type II) [OMIM:Microcephaly (type II)]
Microcephaly. [OMIM:Microcephaly.]
Small head [OMIM:Small head]
Small head (-1.5 to 2 SD) [OMIM:Small head (-1.5 to 2 SD)]
Small head (rare) [OMIM:Small head (rare)]
Small head circumference (lower end of normal) [OMIM:Small head circumference (lower end of normal)]
Quality:
Cross references:
Orphanet:2080 "Microcephaly" [Orphanet:2080]
OMIM: "Decreased head circumference" [OMIM:Decreased head circumference]
OMIM: "Microcephaly" [OMIM:Microcephaly]
OMIM: "Reduced head circumference" [OMIM:Reduced head circumference]
OMIM: "Small head circumference" [OMIM:Small head circumference]
OMIM: "Microcephaly (-12 to -14.5 SD)" [OMIM:Microcephaly (-12 to -14.5 SD)]
OMIM: "Microcephaly (-3 to -4 SD)" [OMIM:Microcephaly (-3 to -4 SD)]
OMIM: "Microcephaly (-4 SD)" [OMIM:Microcephaly (-4 SD)]
OMIM: "Microcephaly (-4 to -5 SD)" [OMIM:Microcephaly (-4 to -5 SD)]
OMIM: "Microcephaly (-4 to -7 SD)" [OMIM:Microcephaly (-4 to -7 SD)]
OMIM: "Microcephaly (-6 S.D.)" [OMIM:Microcephaly (-6 S.D.)]
OMIM: "Microcephaly (1 patient)" [OMIM:Microcephaly (1 patient)]
OMIM: "Microcephaly (22%)" [OMIM:Microcephaly (22%)]
OMIM: "Microcephaly (3/4 patients)" [OMIM:Microcephaly (3/4 patients)]
OMIM: "Microcephaly (50% of patients)" [OMIM:Microcephaly (50% of patients)]
OMIM: "Microcephaly (79% of cases)" [OMIM:Microcephaly (79% of cases)]
OMIM: "Microcephaly (<3.5 SD below the mean)" [OMIM:Microcephaly (<3.5 SD below the mean)]
OMIM: "Microcephaly (about 3 SD below the mean)" [OMIM:Microcephaly (about 3 SD below the mean)]
OMIM: "Microcephaly (classic feature)" [OMIM:Microcephaly (classic feature)]
OMIM: "Microcephaly (deletion patients)" [OMIM:Microcephaly (deletion patients)]
OMIM: "Microcephaly (head circumference -7 to -17 S.D.)" [OMIM:Microcephaly (head circumference -7 to -17 S.D.)]
OMIM: "Microcephaly (head circumference 3 to 11 S.D. below mean)" [OMIM:Microcephaly (head circumference 3 to 11 S.D. below mean)]
OMIM: "Microcephaly (head circumference 3-11 S.D. below mean)" [OMIM:Microcephaly (head circumference 3-11 S.D. below mean)]
OMIM: "Microcephaly (in 1 family)" [OMIM:Microcephaly (in 1 family)]
OMIM: "Microcephaly (in 1 of 4 patients)" [OMIM:Microcephaly (in 1 of 4 patients)]
OMIM: "Microcephaly (in 1 of 6 patients)" [OMIM:Microcephaly (in 1 of 6 patients)]
OMIM: "Microcephaly (in 1 patient)" [OMIM:Microcephaly (in 1 patient)]
OMIM: "Microcephaly (in 2 of 3 siblings)" [OMIM:Microcephaly (in 2 of 3 siblings)]
OMIM: "Microcephaly (in patients with 'CVS-plus,' CVS+)" [OMIM:Microcephaly (in patients with 'CVS-plus,' CVS+)]
OMIM: "Microcephaly (in some patients)" [OMIM:Microcephaly (in some patients)]
OMIM: "Microcephaly (less common)" [OMIM:Microcephaly (less common)]
OMIM: "Microcephaly (male and female)" [OMIM:Microcephaly (male and female)]
OMIM: "Microcephaly (occipitofrontal head circumference, OFC, at or below 3rd centile)" [OMIM:Microcephaly (occipitofrontal head circumference, OFC, at or below 3rd centile)]
OMIM: "Microcephaly (rare)" [OMIM:Microcephaly (rare)]
OMIM: "Microcephaly (reported in 1 family)" [OMIM:Microcephaly (reported in 1 family)]
OMIM: "Microcephaly (reported in 2 patients)" [OMIM:Microcephaly (reported in 2 patients)]
OMIM: "Microcephaly (seen in HHS variant)" [OMIM:Microcephaly (seen in HHS variant)]
OMIM: "Microcephaly (seen in recessive form)" [OMIM:Microcephaly (seen in recessive form)]
OMIM: "Microcephaly (some)" [OMIM:Microcephaly (some)]
OMIM: "Microcephaly (type II)" [OMIM:Microcephaly (type II)]
OMIM: "Microcephaly." [OMIM:Microcephaly.]
OMIM: "Small head" [OMIM:Small head]
OMIM: "Small head (-1.5 to 2 SD)" [OMIM:Small head (-1.5 to 2 SD)]
OMIM: "Small head (rare)" [OMIM:Small head (rare)]
OMIM: "Small head circumference (lower end of normal)" [OMIM:Small head circumference (lower end of normal)]
UMLS:C0025958 "Microcephaly" [HPO:0000252]
UMLS:C0424688 "Small head" [Orphanet:2080]
UMLS:C0025958 "Microcephaly" [Orphanet:2080]
Is a (Direct Parents):
HPO         Abnormality of skull size
Orphanet Abnormality of the skull
MedDRA Cerebral disorders congenital
HPO         Aplasia/Hypoplasia of the cerebrum
MedDRA Musculoskeletal and connective tissue disorders of skull congenital
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of head or neck(HPO:0000152)
          Abnormality of the head(HPO:0000234)
             Abnormality of the skull(HPO:0000929)
                Abnormality of skull size(HPO:0000240)
                   Microcephaly(HPO:0000252)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal axial skeleton morphology(HPO:0009121)
                Abnormality of the skull(HPO:0000929)
                   Abnormality of skull size(HPO:0000240)
                      Microcephaly(HPO:0000252)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Neurological disorders congenital(MedDRA:10029299)
       Cerebral disorders congenital(MedDRA:10052634)
          Microcephaly(HPO:0000252)
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal and connective tissue disorders of skull congenital(MedDRA:10028382)
          Microcephaly(HPO:0000252)
Database Frequency: 832 / 7739
Resource:

All diseases associated with this symptom:

10q22.3q23.3 microdeletion syndrome (Orphanet:276413)
10q22.3q23.3 microduplication syndrome (Orphanet:276422)
14q11.2 microdeletion syndrome (Orphanet:261120)
14q12 microdeletion syndrome (Orphanet:261144)
15q13.3 microdeletion syndrome (Orphanet:199318)
15q14 microdeletion syndrome (Orphanet:261190)
15q24 microdeletion syndrome (Orphanet:94065)
16p11.2p12.2 microduplication syndrome (Orphanet:261204)
16p13.11 microdeletion syndrome (Orphanet:261236)
17p11.2 microduplication syndrome (Orphanet:1713)
17q11.2 microduplication syndrome (Orphanet:139474)
17q21.31 microduplication syndrome (Orphanet:217340)
17q23.1q23.2 microdeletion syndrome (Orphanet:261279)
19p13.12 microdeletion syndrome (Orphanet:254346)
19q13.11 microdeletion syndrome (Orphanet:217346)
1p36 deletion syndrome (Orphanet:1606)
1q21.1 microdeletion syndrome (Orphanet:250989)
1q41q42 microdeletion syndrome (Orphanet:250999)
1q44 microdeletion syndrome (Orphanet:238769)
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)
2q23.1 microdeletion syndrome (Orphanet:228402)
2q31.1 microdeletion syndrome (Orphanet:251014)
2q32q33 microdeletion syndrome (Orphanet:251019)
2q37 microdeletion syndrome (Orphanet:1001)
3-@METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT,AND NEUTROPENIA (OMIM:616271)
3-hydroxyisobutyric aciduria (Orphanet:939)
3-methylglutaconic aciduria type 1 (Orphanet:67046)
3-phosphoserine phosphatase deficiency (Orphanet:79350)
3MC SYNDROME 1 (OMIM:257920)
3q29 microdeletion syndrome (Orphanet:65286)
3q29 microduplication (Orphanet:251038)
46,XX gonadal dysgenesis (Orphanet:243)
5q35 microduplication syndrome (Orphanet:228415)
6-pyruvoyl-tetrahydropterin synthase deficiency (Orphanet:13)
6q16 deletion syndrome (Orphanet:171829)
6q25 microdeletion syndrome (Orphanet:251056)
8p11.2 deletion syndrome (Orphanet:251066)
8p23.1 microdeletion syndrome (Orphanet:251071)
8q22.1 microdeletion syndrome (Orphanet:178303)
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
ADAMS-OLIVER SYNDROME 3 (OMIM:614814)
AICARDI-GOUTIERES SYNDROME 2 (OMIM:610181)
AICARDI-GOUTIERES SYNDROME 4 (OMIM:610333)
AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
ALG1-CDG (Orphanet:79327)
ALG11-CDG (Orphanet:280071)
ALG13-CDG (Orphanet:324422)
ALG3-CDG (Orphanet:79321)
ANE syndrome (Orphanet:157954)
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
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, TYPE 2E (OMIM:121070)
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
ATAXIA-MICROCEPHALY-CATARACT SYNDROME (OMIM:208870)
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Achalasia - microcephaly (Orphanet:929)
Acro-oto-ocular syndrome (Orphanet:2980)
Acrocraniofacial dysostosis (Orphanet:949)
Acrofacial dysostosis, Catania type (Orphanet:1786)
Acute infantile liver failure-multisystemic involvement syndrome (Orphanet:370088)
Adams-Oliver syndrome (Orphanet:974)
Adducted thumbs - arthrogryposis, Christian type (Orphanet:2952)
Adenylosuccinate lyase deficiency (Orphanet:46)
Aicardi syndrome (Orphanet:50)
Aicardi-Goutières syndrome (Orphanet:51)
Allan-Herndon-Dudley syndrome (Orphanet:59)
Alopecia - contractures - dwarfism - intellectual deficit (Orphanet:1005)
Alopecia-intellectual deficit syndrome (Orphanet:2850)
Alpers syndrome (Orphanet:726)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 (Orphanet:98791)
Aminopterin/methotrexate embryofetopathy (Orphanet:1908)
Amish infantile epilepsy syndrome (Orphanet:171714)
Amish lethal microcephaly (Orphanet:99742)
Angelman syndrome (Orphanet:72)
Angio-osteohypertrophic syndrome (Orphanet:2346)
Anonychia - microcephaly (Orphanet:1094)
Anophthalmia/microphthalmia - esophageal atresia (Orphanet:77298)
Aortic arch anomaly - peculiar facies - intellectual deficit (Orphanet:1110)
Aphalangy - syndactyly - microcephaly (Orphanet:1113)
Arachnodactyly - intellectual deficit - dysmorphism (Orphanet:1130)
Argininemia (Orphanet:90)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
Aspartylglucosaminuria (Orphanet:93)
Ataxia - pancytopenia (Orphanet:2585)
Atrioventricular defect - blepharophimosis -radial defects (Orphanet:1352)
Atypical Rett syndrome (Orphanet:3095)
Auriculoocular anomalies - cleft lip (Orphanet:71270)
Autism spectrum disorder-epilepsy-arthrogryposis syndrome (Orphanet:370943)
Autosomal dominant microcephaly (Orphanet:2514)
Autosomal dominant nonsyndromic intellectual deficit (Orphanet:178469)
Autosomal dominant spondylocostal dysostosis (Orphanet:1797)
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit (Orphanet:284282)
Autosomal recessive chorioretinopathy-microcephaly (Orphanet:2518)
Autosomal recessive cutis laxa type 1 (Orphanet:90349)
Autosomal recessive cutis laxa type 2 (Orphanet:90350)
Autosomal recessive cutis laxa type 2, classic type (Orphanet:357074)
Autosomal recessive cutis laxa type 2A (Orphanet:357058)
Autosomal recessive cutis laxa type 2B (Orphanet:357064)
Autosomal recessive deafness-onychodystrophy syndrome (Orphanet:79500)
Autosomal recessive limb-girdle muscular dystrophy type 2K (Orphanet:86812)
Autosomal recessive limb-girdle muscular dystrophy type 2S (Orphanet:369840)
Autosomal recessive limb-girdle muscular dystrophy type 2T (Orphanet:363623)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Autosomal recessive primary microcephaly (Orphanet:2512)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (Orphanet:331176)
Autosomal recessive spastic paraplegia type 23 (Orphanet:101003)
Autosomal recessive spastic paraplegia type 49 (Orphanet:320385)
Autosomal recessive spondylocostal dysostosis (Orphanet:2311)
BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
BARATELA-SCOTT SYNDROME (OMIM:300881)
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET (OMIM:114100)
BONE MARROW FAILURE SYNDROME 2 (OMIM:615715)
BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUSADDUCTUS, AND DEVELOPMENTAL DELAY (OMIM:112370)
BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY,PTOSIS, HEARING LOSS, AND MENTAL RETARDATION (OMIM:613627)
BRACHYDACTYLY, TYPE A2, WITH MICROCEPHALY (OMIM:211369)
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
BRESEK syndrome (Orphanet:85284)
Bangstad syndrome (Orphanet:1227)
Baraitser-Winter syndrome (Orphanet:2995)
Bartsocas-Papas syndrome (Orphanet:1234)
Beckwith-Wiedemann syndrome due to 11p15 microdeletion (Orphanet:231127)
Beta-ureidopropionase deficiency (Orphanet:65287)
Bilateral frontal polymicrogyria (Orphanet:208444)
Bilateral generalized polymicrogyria (Orphanet:208447)
Bilateral striopallidodentate calcinosis (Orphanet:1980)
Bird headed-dwarfism, Montreal type (Orphanet:2617)
Blackfan-Diamond anemia (Orphanet:124)
Blepharophimosis - radioulnar synostosis (Orphanet:1256)
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency (Orphanet:329255)
Blepharophimosis-intellectual deficit syndrome, SBBYS type (Orphanet:3047)
Bloom syndrome (Orphanet:125)
Bohring-Opitz syndrome (Orphanet:97297)
Bonnemann-Meinecke-Reich syndrome (Orphanet:1261)
Borjeson-Forssman-Lehmann syndrome (Orphanet:127)
Bowen-Conradi syndrome (Orphanet:1270)
Brachymorphism - onychodysplasia - dysphalangism (Orphanet:1292)
Brachytelephalangic chondrodysplasia punctata (Orphanet:79345)
Brain calcification, Rajab type (Orphanet:178506)
Branchio-oculo-facial syndrome (Orphanet:1297)
Bullous dystrophy, macular type (Orphanet:1867)
Buschke-Ollendorff syndrome (Orphanet:1306)
C syndrome (Orphanet:1308)
CADDS (Orphanet:369942)
CAMOS syndrome (Orphanet:83472)
CARDIAC LIPIDOSIS, FAMILIAL (OMIM:212080)
CARDIAC MALFORMATION, CLEFT LIP/PALATE, MICROCEPHALY AND DIGITAL ANOMALIES (OMIM:600987)
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASEDEFICIENCY 2 (OMIM:615119)
CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME (OMIM:212540)
CEDNIK syndrome (Orphanet:66631)
CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1 (OMIM:603513)
CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
CHARGE syndrome (Orphanet:138)
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE (OMIM:302950)
CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY (OMIM:215510)
CK syndrome (Orphanet:251383)
CLN10 disease (Orphanet:228337)
COCKAYNE SYNDROME A (OMIM:216400)
COCKAYNE SYNDROME B (OMIM:133540)
COCKAYNE SYNDROME, TYPE III (OMIM:216411)
COCOON SYNDROME (OMIM:613630)
COFFIN-SIRIS SYNDROME (OMIM:135900)
COFS syndrome (Orphanet:1466)
COG4-CDG (Orphanet:263501)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
CORNELIA DE LANGE SYNDROME 4 (OMIM:614701)
CORPUS CALLOSUM, AGENESIS OF (OMIM:217990)
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 6 (OMIM:615771)
CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME (OMIM:218650)
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
CUTIS VERTICIS GYRATA, RETINITIS PIGMENTOSA, AND SENSORINEURAL DEAFNESS (OMIM:605685)
CYCLIC VOMITING SYNDROME (OMIM:500007)
Camptodactyly - tall stature - scoliosis - hearing loss (Orphanet:85164)
Camptodactyly syndrome, Guadalajara type 1 (Orphanet:1327)
Camptodactyly syndrome, Guadalajara type 2 (Orphanet:1326)
Cardiodysrhythmic potassium-sensitive periodic paralysis (Orphanet:37553)
Carey-Fineman-Ziter syndrome (Orphanet:1358)
Carnitine palmitoyl transferase II deficiency, neonatal form (Orphanet:228308)
Carpenter-Waziri syndrome (Orphanet:93973)
Cataract - intellectual deficit - hypogonadism (Orphanet:1387)
Caudal appendage - deafness (Orphanet:1123)
Cerebro-costo-mandibular syndrome (Orphanet:1393)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Cernunnos-XLF deficiency (Orphanet:169079)
Charcot-Marie-Tooth disease type 4B3 (Orphanet:363981)
Chondrodysplasia - disorder of sex development (Orphanet:1422)
Christianson syndrome (Orphanet:85278)
Chudley-Lowry-Hoar syndrome (Orphanet:93971)
Classical phenylketonuria (Orphanet:79254)
Cleft palate - large ears - small head (Orphanet:2013)
Cockayne syndrome (Orphanet:191)
Coffin-Lowry syndrome (Orphanet:192)
Coffin-Siris syndrome (Orphanet:1465)
Cohen syndrome (Orphanet:193)
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 4 (Orphanet:254925)
Congenital herpes virus infection (Orphanet:293)
Congenital ichthyosis - intellectual deficit - spastic quadriplegia (Orphanet:352333)
Congenital ichthyosis - microcephalus - tetraplegia (Orphanet:2271)
Congenital intrauterine infection-like syndrome (Orphanet:1229)
Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect (Orphanet:280671)
Congenital muscular dystrophy with cerebellar involvement (Orphanet:370959)
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome (Orphanet:306504)
Congenital neuronal ceroid lipofuscinosis (Orphanet:168486)
Congenital osteogenesis imperfecta - microcephaly - cataracts (Orphanet:2772)
Congenital rubella syndrome (Orphanet:290)
Congenital toxoplasmosis (Orphanet:858)
Congenital unilateral hypoplasia of depressor anguli oris (Orphanet:1166)
Cornelia de Lange syndrome (Orphanet:199)
Corpus callosum agenesis - neuronopathy (Orphanet:1496)
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (Orphanet:300570)
Craniofrontonasal dysplasia (Orphanet:1520)
Craniosynostosis - fibular aplasia (Orphanet:1533)
Craniosynostosis - intracranial calcifications (Orphanet:52054)
Craniotelencephalic dysplasia (Orphanet:1528)
Cystic leukoencephalopathy without megalencephaly (Orphanet:85136)
D,L-2-hydroxyglutaric aciduria (Orphanet:356978)
D-glyceric aciduria (Orphanet:941)
DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
DPAGT1-CDG (Orphanet:86309)
DPM1-CDG (Orphanet:79322)
DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2 (OMIM:613989)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 (OMIM:613990)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1 (OMIM:224230)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 5 (OMIM:615190)
Dandy-Walker malformation - facial hemangioma (Orphanet:1564)
Deafness - intellectual deficit, Martin-Probst type (Orphanet:85321)
Deafness - onychodystrophy (Orphanet:3231)
Desmosterolosis (Orphanet:35107)
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type (Orphanet:363444)
Diabetic embryopathy (Orphanet:1926)
Dihydropteridine reductase deficiency (Orphanet:226)
Dihydropyrimidine dehydrogenase deficiency (Orphanet:1675)
Distal 22q11.2 microdeletion syndrome (Orphanet:261330)
Distal 22q11.2 microduplication syndrome (Orphanet:261337)
Distal 7q11.23 microdeletion syndrome (Orphanet:254351)
Distal monosomy 10p (Orphanet:1580)
Distal monosomy 10q (Orphanet:96148)
Distal monosomy 13q (Orphanet:1590)
Distal monosomy 15q (Orphanet:1596)
Distal monosomy 17q (Orphanet:1597)
Distal monosomy 1q (Orphanet:36367)
Distal monosomy 3p (Orphanet:1620)
Distal monosomy 7q36 (Orphanet:1636)
Distal trisomy 15q (Orphanet:1707)
Dopa-responsive dystonia due to sepiapterin reductase deficiency (Orphanet:70594)
Duane anomaly - myopathy - scoliosis (Orphanet:50817)
Duane retraction syndrome (Orphanet:233)
Dubowitz syndrome (Orphanet:235)
Dwarfism - intellectual deficit - eye abnormality (Orphanet:2650)
Dyggve-Melchior-Clausen disease (Orphanet:239)
Dysmorphism - short stature - deafness - disorder of sex development (Orphanet:2282)
Dysostosis, Stanescu type (Orphanet:1798)
Dysplastic cortical hyperostosis (Orphanet:2204)
EEC syndrome (Orphanet:1896)
ENCEPHALOMALACIA, MULTILOCULAR (OMIM:225700)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 (OMIM:614558)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 (OMIM:614959)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 (OMIM:616211)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 (OMIM:616339)
EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATIONAND MICROCEPHALY (OMIM:133750)
Ear-patella-short stature syndrome (Orphanet:2554)
Early infantile epileptic encephalopathy (Orphanet:1934)
Emanuel syndrome (Orphanet:96170)
Encephalopathy due to sulfite oxidase deficiency (Orphanet:833)
Endosteal sclerosis - cerebellar hypoplasia (Orphanet:85186)
Epilepsy - microcephaly - skeletal dysplasia (Orphanet:1948)
Ermine phenotype (Orphanet:999)
Erythrokeratodermia variabilis (Orphanet:317)
Extrasystoles - short stature - hyperpigmentation - microcephaly (Orphanet:1964)
FACIOCARDIOMELIC SYNDROME (OMIM:612731)
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)
FANCONI ANEMIA, COMPLEMENTATION GROUP G (OMIM:614082)
FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)
FEINGOLD SYNDROME 1 (OMIM:164280)
FEINGOLD SYNDROME 2 (OMIM:614326)
FORSYTHE-WAKELING SYNDROME (OMIM:613606)
Fallot complex - intellectual deficit - growth delay (Orphanet:3304)
Familial visceral myopathy (Orphanet:2604)
Fanconi anemia (Orphanet:84)
Feingold syndrome (Orphanet:1305)
Fetal Gaucher disease (Orphanet:85212)
Fetal alcohol syndrome (Orphanet:1915)
Fetal brain disruption sequence (Orphanet:1665)
Fetal hydantoin syndrome (Orphanet:1912)
Fetal methylmercury syndrome (Orphanet:1917)
Fetal trimethadione syndrome (Orphanet:1913)
Fetal varicella syndrome (Orphanet:291)
Filippi syndrome (Orphanet:3255)
Focal dermal hypoplasia (Orphanet:2092)
Fraser syndrome (Orphanet:2052)
Freeman-Sheldon syndrome (Orphanet:2053)
Frontonasal dysplasia with alopecia and genital anomaly (Orphanet:228390)
Fryns-Smeets-Thiry syndrome (Orphanet:2058)
Fumaric aciduria (Orphanet:24)
GMS syndrome (Orphanet:2090)
GOMBO SYNDROME (OMIM:233270)
GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGEJOINT CONTRACTURES, OSTEOPOROSIS, CORTICAL DYSPLASIA, AND CEREBELLARATROPHY (OMIM:608278)
Galactosemia (Orphanet:352)
Galloway-Mowat syndrome (Orphanet:2065)
Gaucher disease type 2 (Orphanet:77260)
Genito-palato-cardiac syndrome (Orphanet:2075)
Genitopatellar syndrome (Orphanet:85201)
Geroderma osteodysplastica (Orphanet:2078)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
Grix-Blankenship-Peterson syndrome (Orphanet:2099)
Growth delay due to insulin-like growth factor I resistance (Orphanet:73273)
Growth delay due to insulin-like growth factor type 1 deficiency (Orphanet:73272)
Growth hormone insensitivity syndrome (Orphanet:181393)
HOLOPROSENCEPHALY 11 (OMIM:614226)
HOLOPROSENCEPHALY 2 (OMIM:157170)
HOLOPROSENCEPHALY 5 (OMIM:609637)
HOLOPROSENCEPHALY 9 (OMIM:610829)
HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS (OMIM:610680)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 (OMIM:614749)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
HYPERREFLEXIA (OMIM:145290)
HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY (OMIM:241000)
Hall-Riggs syndrome (Orphanet:2107)
Hallermann-Streiff syndrome (Orphanet:2108)
Hamel cerebro-palato-cardiac syndrome (Orphanet:93946)
Harrod syndrome (Orphanet:2115)
Hartsfield-Bixler-Demyer syndrome (Orphanet:2117)
Hennekam-Beemer syndrome (Orphanet:2135)
Hepatic veno-occlusive disease - immunodeficiency (Orphanet:79124)
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (Orphanet:137681)
Hermansky-Pudlak syndrome with neutropenia (Orphanet:183678)
Holmes-Gang syndrome (Orphanet:93970)
Holoprosencephaly (Orphanet:2162)
Holoprosencephaly - caudal dysgenesis (Orphanet:2165)
Holoprosencephaly - craniosynostosis (Orphanet:2163)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Holoprosencephaly - radial heart renal anomalies (Orphanet:3186)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency (Orphanet:395)
Hoyeraal-Hreidarsson syndrome (Orphanet:3322)
Humero-radial synostosis (Orphanet:3265)
Hyperlysinemia, type I (OMIM:238700)
Hypertelorism - hypospadias - polysyndactyly syndrome (Orphanet:2211)
Hypertelorism-microtia-facial clefting syndrome (Orphanet:2213)
Hypertrichosis cubiti - short stature (Orphanet:2220)
Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual deficiency (Orphanet:2435)
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome (Orphanet:363523)
Hypomyelination with atrophy of basal ganglia and cerebellum (Orphanet:139441)
Hypospadias - intellectual deficit, Goldblatt type (Orphanet:2261)
Hypotonia - failure to thrive - microcephaly (Orphanet:79507)
Hypotonia with lactic acidemia and hyperammonemia (Orphanet:137908)
Hypotonia-cerebral atrophy-hyperglycinemia syndrome (Orphanet:363424)
Hypotonia-speech impairment-severe cognitive delay syndrome (Orphanet:371364)
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES (OMIM:615966)
INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY (OMIM:600546)
Ichthyosis follicularis - alopecia - photophobia (Orphanet:2273)
Immunodeficiency with natural-killer cell deficiency (Orphanet:75391)
Incontinentia pigmenti (Orphanet:464)
Infantile axonal neuropathy (Orphanet:2679)
Infantile epileptic-dyskinetic encephalopathy (Orphanet:364063)
Infantile neuronal ceroid lipofuscinosis (Orphanet:79263)
Infantile spasms - broad thumbs (Orphanet:3173)
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations (Orphanet:319462)
Inherited congenital spastic tetraplegia (Orphanet:210141)
Intellectual deficit - athetosis - microphthalmia (Orphanet:1236)
Intellectual deficit - hypoplastic corpus callosum - preauricular tag (Orphanet:1495)
Intellectual deficit - microcephaly - phalangeal - facial abnormalities (Orphanet:3067)
Intellectual deficit - myopathy - short stature - endocrine defect (Orphanet:3068)
Intellectual deficit - sparse hair - brachydactyly (Orphanet:3051)
Intellectual deficit, Buenos-Aires type (Orphanet:3079)
Intellectual deficit, X-linked - craniofacioskeletal syndrome (Orphanet:163979)
Intellectual deficit, X-linked - cubitus valgus - dysmorphism (Orphanet:85280)
Intellectual deficit, X-linked - hypotonia - facial dysmorphism - aggressive behavior (Orphanet:85329)
Intellectual deficit, X-linked - psychosis - macroorchidism (Orphanet:3077)
Intellectual deficit, X-linked, Abidi type (Orphanet:85273)
Intellectual deficit, X-linked, Brooks type (Orphanet:3056)
Intellectual deficit, X-linked, Cantagrel type (Orphanet:85277)
Intellectual deficit, X-linked, Miles-Carpenter type (Orphanet:85283)
Intellectual deficit, X-linked, Shrimpton type (Orphanet:85324)
Intellectual deficit, X-linked, Vitale type (Orphanet:85289)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome (Orphanet:363611)
Intellectual disability-strabismus syndrome (Orphanet:363528)
Isolated ATP synthase deficiency (Orphanet:254913)
Isolated cerebellar hypoplasia/agenesis (Orphanet:1398)
Isolated osteopoikilosis (Orphanet:166119)
Isolated trigonocephaly (Orphanet:3366)
Ito hypomelanosis (Orphanet:435)
Jacobsen syndrome (Orphanet:2308)
Johanson-Blizzard syndrome (Orphanet:2315)
Joubert syndrome 1 (OMIM:213300)
Juberg-Hayward syndrome (Orphanet:2319)
Juberg-Marsidi syndrome (Orphanet:93972)
Jung-Wolff-Back-Stahl syndrome (Orphanet:2321)
KABUKI SYNDROME 1 (OMIM:147920)
KABUKI SYNDROME 2 (OMIM:300867)
KBG syndrome (Orphanet:2332)
KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Kabuki syndrome (Orphanet:2322)
Kearns-Sayre syndrome (Orphanet:480)
Kenny-Caffey syndrome (Orphanet:2333)
Keratosis follicularis - dwarfism - cerebral atrophy (Orphanet:2339)
Kleefstra syndrome (Orphanet:261494)
Kleefstra syndrome due to 9q34 microdeletion (Orphanet:96147)
Klippel-Trénaunay syndrome (Orphanet:90308)
Koolen-De Vries syndrome (Orphanet:96169)
LACTIC ACIDURIA DUE TO D-LACTIC ACID (OMIM:245450)
LAMBOTTE SYNDROME (OMIM:245552)
LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
LIG4 syndrome (Orphanet:99812)
LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Langer-Giedion syndrome (Orphanet:502)
Laryngeal abductor paralysis (Orphanet:2808)
Lathosterolosis (Orphanet:46059)
Leigh syndrome (Orphanet:506)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Leprechaunism (Orphanet:508)
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect (Orphanet:330050)
Lethal hemolytic anemia - genital anomalies (Orphanet:1046)
Lethal multiple pterygium syndrome (Orphanet:33108)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
Lethal polymalformative syndrome, Boissel type (Orphanet:210144)
Leukocyte adhesion deficiency (Orphanet:2968)
Leukocyte adhesion deficiency type II (Orphanet:99843)
Limb body wall complex (Orphanet:2369)
Lissencephaly due to TUBA1A mutation (Orphanet:171680)
Lissencephaly syndrome, Norman-Roberts type (Orphanet:89844)
Low birth weight - dwarfism - dysgammaglobulinemia (Orphanet:2621)
Lowry-MacLean syndrome (Orphanet:2409)
Lowry-Wood syndrome (Orphanet:1824)
MASA syndrome (Orphanet:2466)
MEGDEL syndrome (Orphanet:352328)
MEHMO syndrome (Orphanet:85282)
MEIER-GORLIN SYNDROME 1 (OMIM:224690)
MEIER-GORLIN SYNDROME 2 (OMIM:613800)
MEIER-GORLIN SYNDROME 3 (OMIM:613803)
MEIER-GORLIN SYNDROME 4 (OMIM:613804)
MEIER-GORLIN SYNDROME 5 (OMIM:613805)
MELAS (Orphanet:550)
MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY,AND SHORT STATURE (OMIM:609037)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 (OMIM:614608)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 16 (OMIM:614609)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 (OMIM:615075)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 (OMIM:615866)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 (OMIM:616268)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 (OMIM:616311)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (OMIM:612621)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 (OMIM:614255)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 (OMIM:614340)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 (OMIM:616281)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,AND FACIAL DYSMORPHISM (OMIM:606242)
MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
MGAT2-CDG (Orphanet:79329)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III (OMIM:210730)
MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615414)
MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616080)
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICALMALFORMATIONS (OMIM:604317)
MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604804)
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604321)
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608393)
MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:612703)
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:614673)
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:614852)
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 (OMIM:616335)
MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE (OMIM:601420)
MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE (OMIM:612947)
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM (OMIM:616033)
MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
MICROHYDRANENCEPHALY (OMIM:605013)
MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
MICROPHTHALMIA, SYNDROMIC 7 (OMIM:309801)
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
MMEP syndrome (Orphanet:3434)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
MOVED TO 210600 (OMIM:608664)
MPDU1-CDG (Orphanet:79323)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 (OMIM:236670)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12 (OMIM:615249)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 14 (OMIM:615350)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 (OMIM:613150)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 (OMIM:253280)
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, 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)
Mandibulofacial dysostosis-microcephaly syndrome (Orphanet:79113)
Marden-Walker syndrome (Orphanet:2461)
Marinesco-Sjögren syndrome (Orphanet:559)
Maternal hyperphenylalaninemia (Orphanet:2209)
Maternal hyperthermia induced birth defects (Orphanet:2216)
Maternally-inherited Leigh syndrome (Orphanet:255210)
Meckel syndrome (Orphanet:564)
Meckel syndrome, type 1 (OMIM:249000)
Meckel syndrome, type 12 (OMIM:616258)
Meckel syndrome, type 4 (OMIM:611134)
Meckel syndrome, type 8 (OMIM:613885)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Menkes disease (Orphanet:565)
Methylmalonic acidemia with homocystinuria (Orphanet:26)
Methylmalonic acidemia with homocystinuria, type cblC (Orphanet:79282)
Methylmalonic acidemia with homocystinuria, type cblX (Orphanet:369962)
Mevalonic aciduria (Orphanet:29)
Micrencephaly - corpus callosum agenesis - abnormal genitalia (Orphanet:2508)
Micro syndrome (Orphanet:2510)
Microbrachycephaly - ptosis - cleft lip (Orphanet:2511)
Microcephalic osteodysplastic dysplasia, Saul-Wilson type (Orphanet:85172)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microcephalic primordial dwarfism due to ZNF335 deficiency (Orphanet:329228)
Microcephalic primordial dwarfism, Alazami type (Orphanet:319671)
Microcephalic primordial dwarfism, Dauber type (Orphanet:319675)
Microcephalic primordial dwarfism, Toriello type (Orphanet:2643)
Microcephaly - brachydactyly - kyphoscoliosis (Orphanet:3433)
Microcephaly - brain defect - spasticity - hypernatremia (Orphanet:2523)
Microcephaly - cardiac defect - lung malsegmentation (Orphanet:2516)
Microcephaly - cervical spine fusion anomalies (Orphanet:2522)
Microcephaly - cleft palate (Orphanet:2521)
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 - lymphedema - chorioretinopathy (Orphanet:2526)
Microcephaly - seizures - developmental delay (Orphanet:228418)
Microcephaly - seizures - intellectual deficit - heart disease (Orphanet:2519)
Microcephaly-albinism-digital anomalies (Orphanet:2513)
Microcephaly-cardiomyopathy syndrome (Orphanet:2515)
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome (Orphanet:329332)
Microcephaly-microcornea syndrome, Seemanova type (Orphanet:2528)
Microform holoprosencephaly (Orphanet:280200)
Microlissencephaly (Orphanet:1083)
Microlissencephaly - micromelia (Orphanet:50810)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Microphthalmia with linear skin defects syndrome (Orphanet:2556)
Microphthalmia, Lenz type (Orphanet:568)
Mietens syndrome (Orphanet:2557)
Mikati-Najjar-Sahli syndrome (Orphanet:2558)
Miller-Dieker syndrome (Orphanet:531)
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 myopathy and sideroblastic anemia (Orphanet:2598)
Monosomy 13q14 (Orphanet:1587)
Monosomy 18p (Orphanet:1598)
Monosomy 18q (Orphanet:1600)
Monosomy 22q13 (Orphanet:48652)
Monosomy 5p (Orphanet:281)
Monosomy 9p (Orphanet:261112)
Morse-Rawnsley-Sargent syndrome (Orphanet:2570)
Mosaic trisomy 9 (Orphanet:99776)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mowat-Wilson syndrome (Orphanet:2152)
Mowat-Wilson syndrome due to monosomy 2q22 (Orphanet:261537)
Moynahan syndrome (Orphanet:2574)
Mucolipidosis type 4 (Orphanet:578)
Mullerian duct anomalies - limb anomalies (Orphanet:2491)
Multiple benign circumferential skin creases on limbs (Orphanet:2505)
Multiple sulfatase deficiency (Orphanet:585)
Muscle-eye-brain disease (Orphanet:588)
Myhre syndrome (Orphanet:2588)
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 (OMIM:600462)
N-ACETYLASPARTATE DEFICIENCY (OMIM:614063)
NEU-LAXOVA SYNDROME 2 (OMIM:616038)
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Nager syndrome (Orphanet:245)
Neu-Laxova syndrome (Orphanet:2671)
Neuroectodermal syndrome, Johnson type (Orphanet:2316)
Nevus comedonicus syndrome (Orphanet:64754)
Nijmegen breakage syndrome (Orphanet:647)
Nijmegen breakage syndrome-like disorder (Orphanet:240760)
Non-distal trisomy 10q (Orphanet:1695)
Non-distal trisomy 13q (Orphanet:1702)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
Norrie disease (Orphanet:649)
OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Oculo-palato-cerebral syndrome (Orphanet:2714)
Oculocerebral hypopigmentation syndrome, Cross type (Orphanet:2719)
Oculocerebrofacial syndrome, Kaufman type (Orphanet:2707)
Oculodentodigital dysplasia (Orphanet:2710)
Oculofaciocardiodental syndrome (Orphanet:2712)
Okamoto syndrome (Orphanet:2729)
Orofaciodigital syndrome type 1 (Orphanet:2750)
Orofaciodigital syndrome type 4 (Orphanet:2753)
Orofaciodigital syndrome type 8 (Orphanet:2755)
Osteoporosis - macrocephaly - blindness - joint hyperlaxity (Orphanet:2787)
Osteoporosis - pseudoglioma (Orphanet:2788)
PAGOD syndrome (Orphanet:991)
PAINE SYNDROME (OMIM:311400)
PEHO syndrome (Orphanet:2836)
PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
PHACE syndrome (Orphanet:42775)
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY (OMIM:602342)
PMM2-CDG (Orphanet:79318)
POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY,HYPERTELORISM, AND BRACHYMELIA (OMIM:263210)
PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2C (OMIM:612390)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
PREMATURE AGING SYNDROME, OKAMOTO TYPE (OMIM:601811)
PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES (OMIM:602249)
Pancreatic hypoplasia - diabetes - congenital heart disease (Orphanet:2255)
Paternal 20q13.2q13.3 microdeletion syndrome (Orphanet:261304)
Pelizaeus-Merzbacher disease (Orphanet:702)
Pelizaeus-Merzbacher-like disease (Orphanet:280270)
Pelizaeus-Merzbacher-like due to AIMP1 mutation (Orphanet:280293)
Pentasomy X (Orphanet:11)
Permanent neonatal diabetes mellitus (Orphanet:99885)
Perrault Syndrome 3 (OMIM:614129)
Peters-plus syndrome (Orphanet:709)
Phenylketonuria (Orphanet:716)
Piebaldism (Orphanet:2884)
Pilotto syndrome (Orphanet:2894)
Pitt-Hopkins syndrome (Orphanet:2896)
Poland syndrome (Orphanet:2911)
Polymicrogyria due to TUBB2B mutation (Orphanet:300573)
Polymicrogyria with optic nerve hypoplasia (Orphanet:250972)
Pontocerebellar hypoplasia type 1 (Orphanet:2254)
Pontocerebellar hypoplasia type 3 (Orphanet:97249)
Pontocerebellar hypoplasia type 4 (Orphanet:166063)
Pontocerebellar hypoplasia type 5 (Orphanet:166068)
Pontocerebellar hypoplasia type 6 (Orphanet:166073)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Prader-Willi syndrome (Orphanet:739)
Premature chromosome condensation with microcephaly and intellectual deficit (Orphanet:52183)
Primary cutis verticis gyrata (Orphanet:671)
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome (Orphanet:306558)
Primordial short stature - microdontia - opalescent and rootless teeth (Orphanet:46658)
Progressive external ophthalmoplegia - myopathy - emaciation (Orphanet:352447)
Progressive myoclonic epilepsy type 3 (Orphanet:263516)
Progressive myoclonic epilepsy with dystonia (Orphanet:352596)
Prominent glabella - microcephaly - hypogenitalism (Orphanet:2083)
Pseudoaminopterin syndrome (Orphanet:221120)
Pseudoprogeria syndrome (Orphanet:2985)
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 lipoic acid synthetase deficiency (OMIM:614462)
RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION (OMIM:268050)
RFT1-CDG (Orphanet:244310)
RIDDLE SYNDROME (OMIM:611943)
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
ROBERTS SYNDROME (OMIM:268300)
Recessive hereditary methemoglobinemia type 1 (Orphanet:139373)
Recessive hereditary methemoglobinemia type 2 (Orphanet:139380)
Renal tubular dysgenesis (Orphanet:3033)
Renal tubular dysgenesis of genetic origin (Orphanet:97369)
Renier-Gabreels-Jasper syndrome (Orphanet:93975)
Renpenning syndrome (Orphanet:3242)
Retinopathy - anemia- central nervous system anomalies (Orphanet:3088)
Rett syndrome (Orphanet:778)
Rhizomelic chondrodysplasia punctata (Orphanet:177)
Rhizomelic chondrodysplasia punctata type 1 (Orphanet:309789)
Rhizomelic chondrodysplasia punctata type 2 (Orphanet:309796)
Rhizomelic syndrome, Urbach type (Orphanet:3098)
Ring chromosome 1 (Orphanet:1437)
Ring chromosome 6 (Orphanet:1448)
Roberts syndrome (Orphanet:3103)
Rothmund-Thomson syndrome (Orphanet:2909)
Rubinstein-Taybi syndrome (Orphanet:783)
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (Orphanet:353281)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (Orphanet:353284)
Ruvalcaba syndrome (Orphanet:3121)
SC PHOCOMELIA SYNDROME (OMIM:269000)
SECKEL SYNDROME 1 (OMIM:210600)
SECKEL SYNDROME 2 (OMIM:606744)
SECKEL SYNDROME 4 (OMIM:613676)
SECKEL SYNDROME 5 (OMIM:613823)
SECKEL SYNDROME 6 (OMIM:614728)
SECKEL SYNDROME 8 (OMIM:615807)
SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS (OMIM:609654)
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION (OMIM:612447)
SLC35A2-CDG (Orphanet:356961)
SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION (OMIM:271109)
SPINAL MUSCULAR ATROPHY WITH MICROCEPHALY AND MENTAL SUBNORMALITY (OMIM:271110)
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH CHARACTERISTIC FACIES (OMIM:600093)
STT3A-CDG (Orphanet:370921)
STT3B-CDG (Orphanet:370924)
Saldino-Mainzer syndrome (Orphanet:140969)
Sanjad-Sakati syndrome (Orphanet:2323)
Satoyoshi syndrome (Orphanet:3130)
Say-Barber-Miller syndrome (Orphanet:3132)
Schilbach-Rott syndrome (Orphanet:2353)
Schinzel-Giedion syndrome (Orphanet:798)
Schisis association (Orphanet:63862)
Schwartz-Jampel syndrome (Orphanet:800)
Seckel syndrome (Orphanet:808)
Severe X-linked intellectual deficit, Gustavson type (Orphanet:3078)
Severe combined immunodeficiency (Orphanet:183660)
Severe intellectual deficit and progressive spastic paraplegia (Orphanet:280763)
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (Orphanet:369939)
Short stature - craniofacial anomalies - genital hypoplasia (Orphanet:2994)
Short stature - heart defect - craniofacial anomalies (Orphanet:1088)
Short stature - intellectual deficit - eye anomalies - cleft lip/palate (Orphanet:2649)
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome (Orphanet:314394)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Sjögren-Larsson syndrome (Orphanet:816)
Smith-Fineman-Myers syndrome (Orphanet:93974)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Smith-Magenis syndrome (Orphanet:819)
Smith-McCort dysplasia (Orphanet:178355)
Solitary median maxillary central incisor syndrome (Orphanet:2286)
Spastic paraplegia 64, autosomal recessive (OMIM:615683)
Spasticity - intellectual deficit - X-linked epilepsy (Orphanet:3175)
Spondyloepimetaphyseal dysplasia, Geneviève type (Orphanet:168454)
Sternal malformation - vascular dysplasia (Orphanet:3195)
Stimmler syndrome (Orphanet:3199)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A (Orphanet:308386)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B (Orphanet:308393)
Symmetrical thalamic calcifications (Orphanet:1314)
Syndromic X-linked intellectual deficit due to JARID1C mutation (Orphanet:85279)
Syngnathia multiple anomalies (Orphanet:3262)
Synostosis - microcephaly - scoliosis (Orphanet:3268)
TERATOCARCINOMA-DERIVED GROWTH FACTOR 1 (OMIM:187395)
TRICHORRHEXIS NODOSA SYNDROME (OMIM:275550)
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 (OMIM:234050)
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE (OMIM:601675)
TRIGLYCERIDE STORAGE DISEASE, TYPE I (OMIM:190420)
TRIGONOCEPHALY 1 (OMIM:190440)
TRIGONOCEPHALY 2 (OMIM:614485)
Tetraploidy (Orphanet:3305)
Tetrasomy 18p (Orphanet:3307)
Thrombocytopenia - Robin sequence (Orphanet:3323)
Toluene embryopathy (Orphanet:1920)
Toriello-Carey syndrome (Orphanet:3338)
Townes-Brocks syndrome (Orphanet:857)
Tricho-oculo-dermo-vertebral syndrome (Orphanet:3354)
Trichodental syndrome (Orphanet:3351)
Triple A syndrome (Orphanet:869)
Trisomy 17p (Orphanet:261290)
Trisomy 18 (Orphanet:3380)
Trisomy 4p (Orphanet:1738)
Trisomy 9p (Orphanet:236)
Tyrosinemia type 2 (Orphanet:28378)
Tyrosinemia type 3 (Orphanet:69723)
VELOCARDIOFACIAL SYNDROME (OMIM:192430)
VERHEIJ SYNDROME (OMIM:615583)
Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence (Orphanet:3201)
Vici syndrome (Orphanet:1493)
Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay (Orphanet:73246)
WAGR syndrome (Orphanet:893)
WARBURG MICRO SYNDROME 1 (OMIM:600118)
WARBURG MICRO SYNDROME 2 (OMIM:614225)
WARBURG MICRO SYNDROME 3 (OMIM:614222)
WEBB-DATTANI SYNDROME (OMIM:615926)
Waardenburg syndrome (Orphanet:3440)
Waardenburg syndrome type 3 (Orphanet:896)
Walker-Warburg syndrome (Orphanet:899)
Warsaw breakage syndrome (Orphanet:280558)
Weaver-Williams syndrome (Orphanet:3448)
White matter hypoplasia - corpus callosum agenesis - intellectual deficit (Orphanet:3207)
Williams syndrome (Orphanet:904)
Wilson-Turner syndrome (Orphanet:3459)
Wolcott-Rallison syndrome (Orphanet:1667)
Wolf-Hirschhorn syndrome (Orphanet:280)
Worster-Drought syndrome (Orphanet:3465)
Wrinkly skin syndrome (Orphanet:2834)
X-linked complicated corpus callosum dysgenesis (Orphanet:1497)
X-linked creatine transporter deficiency (Orphanet:52503)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
X-linked intellectual deficit, Golabi-Ito-Hall type (Orphanet:93947)
X-linked intellectual deficit, Najm type (Orphanet:163937)
X-linked intellectual disability-retinitis pigmentosa syndrome (Orphanet:85332)
X-linked lissencephaly with abnormal genitalia (Orphanet:452)
X-linked mandibulofacial dysostosis (Orphanet:1131)
XFE PROGEROID SYNDROME (OMIM:610965)
XK aprosencephaly (Orphanet:3469)
XYLOSIDASE DEFICIENCY (OMIM:278900)
Xeroderma pigmentosum (Orphanet:910)
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 complementation group G (Orphanet:276267)
Xeroderma pigmentosum/Cockayne syndrome complex (Orphanet:220295)
Yunis-Varon syndrome (Orphanet:3472)
Zellweger syndrome (Orphanet:912)
Zellweger-like syndrome without peroxisomal anomalies (Orphanet:50812)
[DEL] ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)