Macrocephaly

Symptom Information:

Symptom ID: HPO:0000256
Synonyms:
Increased head circumference [HPO:0000256]
Large head [HPO:0000256]
Large head circumference [HPO:0000256]
Macrocrania [HPO:0000256]
Macrocephaly (disorder) [Orphanet:2040]
Large head (disorder) [Orphanet:2040]
Macrocephaly [Orphanet:2040]
Increased head circumference [OMIM:Increased head circumference]
Large head [OMIM:Large head]
Large head circumference [OMIM:Large head circumference]
Macrocephaly [OMIM:Macrocephaly]
Macrocrania [OMIM:Macrocrania]
Macrocephaly/macrocrania/megalocephaly/megacephaly [Orphanet:2040]
Macrocephaly [MedDRA:10050183]
Congenital macrocephaly [MedDRA:10050183]
Macrocephaly NOS [MedDRA:10050183]
Macrocephaly (1 patient) [OMIM:Macrocephaly (1 patient)]
Macrocephaly (25%) [OMIM:Macrocephaly (25%)]
Macrocephaly (26%) [OMIM:Macrocephaly (26%)]
Macrocephaly (39%) [OMIM:Macrocephaly (39%)]
Macrocephaly (64%) [OMIM:Macrocephaly (64%)]
Macrocephaly (8%) [OMIM:Macrocephaly (8%)]
Macrocephaly (due to Dandy-Walker malformation) [OMIM:Macrocephaly (due to Dandy-Walker malformation)]
Macrocephaly (half of cases) [OMIM:Macrocephaly (half of cases)]
Macrocephaly (homozygote) [OMIM:Macrocephaly (homozygote)]
Macrocephaly (in 2 of 7 patients) [OMIM:Macrocephaly (in 2 of 7 patients)]
Macrocephaly (in some patients) [OMIM:Macrocephaly (in some patients)]
Macrocephaly (less common) [OMIM:Macrocephaly (less common)]
Macrocephaly (rare) [OMIM:Macrocephaly (rare)]
Macrocranium [OMIM:Macrocranium]
Quality:
Cross references:
HPO:0001355 "Megalencephaly" [Orphanet:2040]
HPO:0004482 "Relative macrocephaly" [Orphanet:2040]
Orphanet:2040 "Macrocephaly/macrocrania/megalocephaly/megacephaly" [Orphanet:2040]
OMIM: "Increased head circumference" [OMIM:Increased head circumference]
OMIM: "Large head" [OMIM:Large head]
OMIM: "Large head circumference" [OMIM:Large head circumference]
OMIM: "Macrocephaly" [OMIM:Macrocephaly]
OMIM: "Macrocrania" [OMIM:Macrocrania]
OMIM: "Macrocephaly (1 patient)" [OMIM:Macrocephaly (1 patient)]
OMIM: "Macrocephaly (25%)" [OMIM:Macrocephaly (25%)]
OMIM: "Macrocephaly (26%)" [OMIM:Macrocephaly (26%)]
OMIM: "Macrocephaly (39%)" [OMIM:Macrocephaly (39%)]
OMIM: "Macrocephaly (64%)" [OMIM:Macrocephaly (64%)]
OMIM: "Macrocephaly (8%)" [OMIM:Macrocephaly (8%)]
OMIM: "Macrocephaly (due to Dandy-Walker malformation)" [OMIM:Macrocephaly (due to Dandy-Walker malformation)]
OMIM: "Macrocephaly (half of cases)" [OMIM:Macrocephaly (half of cases)]
OMIM: "Macrocephaly (homozygote)" [OMIM:Macrocephaly (homozygote)]
OMIM: "Macrocephaly (in 2 of 7 patients)" [OMIM:Macrocephaly (in 2 of 7 patients)]
OMIM: "Macrocephaly (in some patients)" [OMIM:Macrocephaly (in some patients)]
OMIM: "Macrocephaly (less common)" [OMIM:Macrocephaly (less common)]
OMIM: "Macrocephaly (rare)" [OMIM:Macrocephaly (rare)]
OMIM: "Macrocranium" [OMIM:Macrocranium]
UMLS:C0221355 "Macrocephaly" [HPO:0000256]
UMLS:C2243051 "Large head (disorder)" [Orphanet:2040]
UMLS:C0221355 "Macrocephaly" [Orphanet:2040]
Is a (Direct Parents):
Orphanet Abnormality of the skull
MedDRA Musculoskeletal and connective tissue disorders of skull congenital
HPO         Abnormality of skull size
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)
                   Macrocephaly(HPO:0000256)
       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)
                      Macrocephaly(HPO:0000256)
MedDRA:
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)
          Macrocephaly(HPO:0000256)
Database Frequency: 298 / 7739
Resource:

All diseases associated with this symptom:

10q22.3q23.3 microdeletion syndrome (Orphanet:276413)
15q11q13 microduplication syndrome (Orphanet:238446)
15q13.3 microdeletion syndrome (Orphanet:199318)
17q11 microdeletion syndrome (Orphanet:97685)
17q11.2 microduplication syndrome (Orphanet:139474)
1q21.1 microduplication syndrome (Orphanet:250994)
20p12.3 microdeletion syndrome (Orphanet:261295)
2q37 microdeletion syndrome (Orphanet:1001)
3C syndrome (Orphanet:7)
3q13 microdeletion syndrome (Orphanet:1621)
3q29 microdeletion syndrome (Orphanet:65286)
3q29 microduplication (Orphanet:251038)
5p13 microduplication syndrome (Orphanet:329802)
6q16 deletion syndrome (Orphanet:171829)
ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
ARACHNOID CYSTS, INTRACRANIAL (OMIM:207790)
AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES (OMIM:109120)
Achondrogenesis (Orphanet:932)
Achondrogenesis type 1A (Orphanet:93299)
Achondrogenesis type 1B (Orphanet:93298)
Achondrogenesis type 2 (Orphanet:93296)
Achondroplasia (Orphanet:15)
Acrocallosal syndrome (Orphanet:36)
Acrocapitofemoral dysplasia (Orphanet:63446)
Acroosteolysis, dominant type (Orphanet:955)
Adenylosuccinate lyase deficiency (Orphanet:46)
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia (Orphanet:52055)
Albers-Schönberg osteopetrosis (Orphanet:53)
Alpha-mannosidosis (Orphanet:61)
Angio-osteohypertrophic syndrome (Orphanet:2346)
Arterial tortuosity syndrome (Orphanet:3342)
Atkin-Flaitz syndrome (Orphanet:1193)
Atypical teratoid tumor (Orphanet:99966)
Auriculocondylar syndrome (Orphanet:137888)
Autosomal dominant Kenny-Caffey syndrome (Orphanet:93325)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant spondylocostal dysostosis (Orphanet:1797)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive malignant osteopetrosis (Orphanet:667)
Autosomal recessive spondylocostal dysostosis (Orphanet:2311)
B4GALT1-CDG (Orphanet:79332)
BARTTER SYNDROME, ANTENATAL, TYPE 2 (OMIM:241200)
BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Bannayan-Riley-Ruvalcaba syndrome (Orphanet:109)
Bardet-Biedl syndrome (Orphanet:110)
Bartter syndrome (Orphanet:112)
Bifunctional enzyme deficiency (Orphanet:300)
Borjeson-Forssman-Lehmann syndrome (Orphanet:127)
Brachydactyly - elbow wrist dysplasia (Orphanet:1275)
Brachydactyly type E (Orphanet:93387)
Brittle cornea syndrome (Orphanet:90354)
CACH syndrome (Orphanet:135)
CAMPOMELIC DYSPLASIA (OMIM:114290)
CHROMOSOME 1p32-p31 DELETION SYNDROME (OMIM:613735)
CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME (OMIM:613603)
CINCA syndrome (Orphanet:1451)
CLARK-BARAITSER SYNDROME (OMIM:300602)
COLE-CARPENTER SYNDROME 2 (OMIM:616294)
CORPUS CALLOSUM, AGENESIS OF (OMIM:217990)
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
CRANIOMETADIAPHYSEAL DYSPLASIA (OMIM:269300)
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Cabezas syndrome (Orphanet:85293)
Campomelic dysplasia (Orphanet:140)
Canavan disease (Orphanet:141)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Cerebral gigantism - jaw cysts (Orphanet:2081)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Cerebro-oculo-nasal syndrome (Orphanet:66625)
Cleidocranial dysplasia (Orphanet:1452)
Cobblestone lissencephaly without muscular or ocular involvement (Orphanet:352682)
Congenital sodium diarrhea (Orphanet:103908)
Costello syndrome (Orphanet:3071)
Cowden syndrome (Orphanet:201)
Craniodiaphyseal dysplasia (Orphanet:1513)
Cranioectodermal dysplasia 3 (OMIM:614099)
Craniofacial dyssynostosis (Orphanet:1516)
Craniofaciofrontodigital syndrome (Orphanet:363705)
Craniolenticulosutural dysplasia (Orphanet:50814)
Craniometadiaphyseal dysplasia, wormian bone type (Orphanet:85184)
Craniometaphyseal dysplasia (Orphanet:1522)
Craniomicromelic syndrome (Orphanet:1524)
Cronkhite-Canada syndrome (Orphanet:2930)
D,L-2-hydroxyglutaric aciduria (Orphanet:356978)
D-2-@HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
D-2-hydroxyglutaric aciduria (Orphanet:79315)
Dandy-Walker malformation - postaxial polydactyly (Orphanet:1566)
Deafness - encephaloneuropathy - obesity - valvulopathy (Orphanet:254898)
Desmosterolosis (Orphanet:35107)
Diastrophic dwarfism (Orphanet:628)
Distal 22q11.2 microduplication syndrome (Orphanet:261337)
Distal limb deficiencies - micrognathia syndrome (Orphanet:1307)
Donnai-Barrow syndrome (Orphanet:2143)
Dysosteosclerosis (Orphanet:1782)
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1 (OMIM:130070)
Early-onset parkinsonism - intellectual deficit (Orphanet:2379)
Ectodermal dysplasia - intellectual deficit - central nervous system malformation (Orphanet:1812)
Ehlers-Danlos syndrome, progeroid type (Orphanet:75496)
Encephalocraniocutaneous lipomatosis (Orphanet:2396)
Epimetaphyseal skeletal dysplasia (Orphanet:1819)
FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION (OMIM:227250)
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation (Orphanet:1970)
Familial lambdoid synostosis (Orphanet:3267)
Familial scaphocephaly syndrome, McGillivray type (Orphanet:168624)
Fountain syndrome (Orphanet:3219)
Fragile X syndrome (Orphanet:908)
Frontal encephalocele (Orphanet:1931)
Fucosidosis (Orphanet:349)
Gingival fibromatosis - facial dysmorphism (Orphanet:2025)
Glutaryl-CoA dehydrogenase deficiency (Orphanet:25)
Gorlin syndrome (Orphanet:377)
Greenberg dysplasia (Orphanet:1426)
Greig cephalopolysyndactyly syndrome (Orphanet:380)
HOLOPROSENCEPHALY 7 (OMIM:610828)
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2 (OMIM:615219)
HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM (OMIM:612089)
HYPOTHALAMIC HAMARTOMASCONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED (OMIM:241800)
Holoprosencephaly (Orphanet:2162)
Hurler syndrome (Orphanet:93473)
Hurler-Scheie syndrome (Orphanet:93476)
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly (Orphanet:2180)
Hydrocephalus with stenosis of aqueduct of Sylvius (Orphanet:2182)
Hypermethioninemia encephalopathy due to adenosine kinase deficiency (Orphanet:289290)
Hypertrichotic osteochondrodysplasia, Cantu type (Orphanet:1517)
Hypochondroplasia (Orphanet:429)
Hypoplasminogenemia (Orphanet:722)
ICF syndrome (Orphanet:2268)
IMAGe syndrome (Orphanet:85173)
Intellectual deficit - cataracts - calcified pinnae - myopathy (Orphanet:3042)
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures (Orphanet:1568)
Intellectual deficit, X-linked - macrocephaly - macro-orchidism (Orphanet:85320)
Intellectual deficit, X-linked, Armfield type (Orphanet:85276)
Intellectual deficit, X-linked, Kroes type (Orphanet:163961)
Intellectual deficit, X-linked, Nascimento type (Orphanet:163956)
Intellectual deficit, X-linked, Turner type (Orphanet:85328)
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome (Orphanet:369837)
Isolated cerebellar hypoplasia/agenesis (Orphanet:1398)
Isolated plagiocephaly (Orphanet:35098)
Isolated sedoheptulokinase deficiency (ORPHA:440713)
Ito hypomelanosis (Orphanet:435)
Jacobsen syndrome (Orphanet:2308)
Joubert syndrome (Orphanet:475)
Joubert syndrome 1 (OMIM:213300)
Joubert syndrome 2 (OMIM:608091)
Joubert syndrome with hepatic defect (Orphanet:1454)
Juvenile Paget disease (Orphanet:2801)
Juvenile polyposis syndrome (Orphanet:2929)
Kaler-Garrity-Stern syndrome (Orphanet:2324)
Keipert syndrome (Orphanet:2662)
Kenny-Caffey syndrome (Orphanet:2333)
Klippel-Trénaunay syndrome (Orphanet:90308)
L-2-hydroxyglutaric aciduria (Orphanet:79314)
LETHAL CONGENITAL CONTRACTURE SYNDROME 6 (OMIM:616248)
LETHAL SHORT-LIMB SKELETAL DYSPLASIA, AL GAZALI TYPE (OMIM:601356)
LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
LUJAN-FRYNS SYNDROME (OMIM:309520)
Larsen-like osseous dysplasia - short stature (Orphanet:2370)
Legius syndrome (Orphanet:137605)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Lethal Kniest-like dysplasia (Orphanet:2347)
Lethal chondrodysplasia, Moerman type (Orphanet:1420)
Lhermitte-Duclos disease (Orphanet:65285)
Ligneous conjunctivitis (Orphanet:97231)
Linear verrucous nevus syndrome (Orphanet:2611)
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY (OMIM:606369)
MACROCEPHALY, BENIGN FAMILIAL (OMIM:153470)
MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
MASA syndrome (Orphanet:2466)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 (OMIM:615937)
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 (OMIM:615938)
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTICFEATURES (OMIM:613670)
MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKINANOMALIES (OMIM:606772)
MENTAL RETARDATION, X-LINKED 72 (OMIM:300271)
MENTAL RETARDATION, X-LINKED 93 (OMIM:300659)
MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
MGAT2-CDG (Orphanet:79329)
MICROPHTHALMIA, SYNDROMIC 14 (OMIM:615877)
MOMO syndrome (Orphanet:2563)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 (OMIM:614643)
Macrocephaly - short stature - paraplegia (Orphanet:2427)
Macrocephaly - spastic paraplegia - dysmorphism (Orphanet:2429)
McCune-Albright syndrome (Orphanet:562)
Megalencephalic leukoencephalopathy with subcortical cysts (Orphanet:2478)
Megalencephaly (Orphanet:2477)
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus (Orphanet:83473)
Megalencephaly-capillary malformation-polymicrogyria syndrome (Orphanet:60040)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Metaphyseal dysostosis - intellectual deficit - conductive deafness (Orphanet:2502)
Monosomy 22q13 (Orphanet:48652)
Monosomy 9q22.3 (Orphanet:77301)
Muckle-Wells syndrome (Orphanet:575)
Mucopolysaccharidosis type 1 (Orphanet:579)
Mucopolysaccharidosis type 2 (Orphanet:580)
Mucopolysaccharidosis type 2, attenuated form (Orphanet:217093)
Mucopolysaccharidosis type 2, severe form (Orphanet:217085)
Mucopolysaccharidosis type 4 (Orphanet:582)
Mucopolysaccharidosis type 6 (Orphanet:583)
Mucopolysaccharidosis type 7 (Orphanet:584)
Muenke syndrome (Orphanet:53271)
Mulibrey nanism (Orphanet:2576)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
Multiple congenital anomalies - hypotonia - seizures syndrome (Orphanet:280633)
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (Orphanet:300496)
Multiple epiphyseal dysplasia, Al-Gazali type (Orphanet:166024)
Multiple sulfatase deficiency (Orphanet:585)
Muscular dystrophy - white matter spongiosis (Orphanet:1877)
NOONAN SYNDROME 4 (OMIM:610733)
NOONAN SYNDROME 6 (OMIM:613224)
Neonatal adrenoleukodystrophy (Orphanet:44)
Neurofibromatosis type 1 (Orphanet:636)
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion (Orphanet:363700)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
Noonan syndrome-like disorder with loose anagen hair (Orphanet:2701)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 (OMIM:615085)
Opsismodysplasia (Orphanet:2746)
Osteogenesis imperfecta (Orphanet:666)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
Osteopetrosis (Orphanet:2781)
Osteosclerosis - developmental delay - craniosynostosis (Orphanet:178377)
Overgrowth - macrocephaly - facial dysmorphism (Orphanet:137634)
PELGER-HUET ANOMALY (OMIM:169400)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
PTEN hamartoma tumor syndrome (Orphanet:306498)
Pectus excavatum - macrocephaly - dysplastic nails (Orphanet:2835)
Perlman syndrome (Orphanet:2849)
Peters-plus syndrome (Orphanet:709)
Platyspondylic dysplasia, Torrance type (Orphanet:85166)
Proteus syndrome (Orphanet:744)
Proteus-like syndrome (Orphanet:2969)
Proximal 16p11.2 microdeletion syndrome (Orphanet:261197)
Proximal renal tubular acidosis (Orphanet:47159)
Pseudoaminopterin syndrome (Orphanet:221120)
Pyknoachondrogenesis (Orphanet:3003)
Pyruvate carboxylase deficiency (Orphanet:3008)
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Radio-ulnar synostosis - intellectual deficit - hypotonia (Orphanet:3270)
Robinow-like syndrome (Orphanet:3105)
SCLEROSTEOSIS 2 (OMIM:614305)
SOTOS SYNDROME 1 (OMIM:117550)
Sandhoff disease (Orphanet:796)
Sandhoff disease, adult form (Orphanet:309169)
Sandhoff disease, infantile form (Orphanet:309155)
Sandhoff disease, juvenile form (Orphanet:309162)
Schneckenbecken dysplasia (Orphanet:3144)
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus (Orphanet:137608)
Severe Canavan disease (Orphanet:314911)
Severe achondroplasia - developmental delay - acanthosis nigricans (Orphanet:85165)
Short rib-polydactyly syndrome, Beemer-Langer type (Orphanet:93268)
Short rib-polydactyly syndrome, Verma-Naumoff type (Orphanet:93271)
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome (Orphanet:314394)
Short-rib thoracic dysplasia 8 with or without polydactyly (OMIM:615503)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Simpson-Golabi-Behmel syndrome type 2 (Orphanet:79022)
Sotos syndrome (Orphanet:821)
Spinocerebellar ataxia - dysmorphism (Orphanet:1185)
Spondylo-megaepiphyseal-metaphyseal dysplasia (Orphanet:228387)
Spondyloepimetaphyseal dysplasia with multiple dislocations (Orphanet:93360)
Sturge-Weber syndrome (Orphanet:3205)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A (Orphanet:308386)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B (Orphanet:308393)
Summitt syndrome (Orphanet:3210)
Symphalangism with multiple anomalies of hands and feet (Orphanet:3246)
Syndromic X-linked intellectual deficit due to JARID1C mutation (Orphanet:85279)
TENORIO SYNDROME (OMIM:616260)
TREMOR, HEREDITARY ESSENTIAL, AND IDIOPATHIC NORMAL PRESSURE HYDROCEPHALUS (OMIM:611808)
Tay-Sachs disease (Orphanet:845)
Temtamy syndrome (Orphanet:1777)
Tetrasomy 12p (Orphanet:884)
Thanatophoric dysplasia (Orphanet:2655)
Thanatophoric dysplasia type 1 (Orphanet:1860)
Thanatophoric dysplasia type 2 (Orphanet:93274)
Thin ribs - tubular bones - dysmorphism (Orphanet:1506)
Toriello-Lacassie-Droste syndrome (Orphanet:3339)
Triopia (Orphanet:3374)
Triploidy (Orphanet:3376)
Trismus - pseudocamptodactyly (Orphanet:3377)
Trisomy 1q (Orphanet:261344)
Trisomy 5p (Orphanet:1742)
Walker-Warburg syndrome (Orphanet:899)
Weaver syndrome (Orphanet:3447)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
X-linked centronuclear myopathy (Orphanet:596)
X-linked dominant chondrodysplasia, Chassaing-Lacombe type (Orphanet:163966)
X-linked epilepsy - learning disabilities - behavior disorders (Orphanet:85294)
X-linked intellectual deficit - cerebellar hypoplasia (Orphanet:137831)
X-linked intellectual deficit with marfanoid habitus (Orphanet:776)
X-linked intellectual disability due to GRIA3 anomalies (Orphanet:364028)
Zellweger syndrome (Orphanet:912)
[DEL] NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)