Megalencephaly
Symptom Information:
Symptom ID: | HPO:0001355 | |||||||||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
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) Megalencephaly(HPO:0001355) |
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Database Frequency: | 39 / 7739 | |||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
17q11 microdeletion syndrome | (Orphanet:97685) |
17q11.2 microduplication syndrome | (Orphanet:139474) |
1q21.1 microduplication syndrome | (Orphanet:250994) |
5p13 microduplication syndrome | (Orphanet:329802) |
ADAMS-OLIVER SYNDROME 2 | (OMIM:614219) |
AURICULOCONDYLAR SYNDROME 1 | (OMIM:602483) |
AURICULOCONDYLAR SYNDROME 2 | (OMIM:614669) |
Achondroplasia | (Orphanet:15) |
Alexander disease | (Orphanet:58) |
Apert syndrome | (Orphanet:87) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
B4GALT1-CDG | (Orphanet:79332) |
Bardet-Biedl syndrome | (Orphanet:110) |
CRANIOMETADIAPHYSEAL DYSPLASIA | (OMIM:269300) |
Cranioectodermal dysplasia 3 | (OMIM:614099) |
D,L-2-hydroxyglutaric aciduria | (Orphanet:356978) |
Early-onset parkinsonism - intellectual deficit | (Orphanet:2379) |
Familial lambdoid synostosis | (Orphanet:3267) |
IMAGe syndrome | (Orphanet:85173) |
Legius syndrome | (Orphanet:137605) |
MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE | (OMIM:248000) |
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 WITH DYSMYELINATION | (OMIM:249240) |
MEGALENCEPHALY, AUTOSOMAL DOMINANT | (OMIM:155350) |
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 | (OMIM:615938) |
Megalencephalic leukoencephalopathy with subcortical cysts | (Orphanet:2478) |
Megalencephaly | (Orphanet:2477) |
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus | (Orphanet:83473) |
Megalencephaly-capillary malformation-polymicrogyria syndrome | (Orphanet:60040) |
Multiple congenital anomalies - hypotonia - seizures syndrome | (Orphanet:280633) |
PELGER-HUET ANOMALY | (OMIM:169400) |
Peters-plus syndrome | (Orphanet:709) |
Pseudoaminopterin syndrome | (Orphanet:221120) |
Toriello-Lacassie-Droste syndrome | (Orphanet:3339) |
Trismus - pseudocamptodactyly | (Orphanet:3377) |
X-linked epilepsy - learning disabilities - behavior disorders | (Orphanet:85294) |