microhydranencephaly
severe abnormality of brain development characterized by both microcephaly and hydranencephaly
Facts
6 properties- Instance of
- rare disease, class of disease[6]
- Subclass of
- hydranencephaly, microcephaly, syndrome with microcephaly as major feature, developmental defect during embryogenesis
- Has phenotype
- microcephaly, self-injury, agenesis of the corpus callosum, cerebellar hypoplasia, abnormal reflex, Growth delay, Ventriculomegaly, Poor head control, spastic quadriplegia, Generalized amyotrophy, Severe mental retardation[11][12][13][14][15][16][17][18][19][20][21]
- Prevalence
- +0.000001[7]
🏷️ Also known as
en MICROHYDRANENCEPHALY; MHAC
en Hydranencephaly and Microcephaly
en MHAC
en microhydranencephaly
en MICROHYDRANENCEPHALY
el Μικροϋδρανεγκεφαλία
es microhidranencefalia
fa مایکروهیدراننسفالی
fr microhydranencéphalie
he פגם מוחי התפתחותי נדיר
zh 微積水性無腦畸形症
🔖 Identifiers · 12
- Exact match
- www.orpha.net, www.orpha.net
- GARD rare disease ID
- 10216
- ICD-10-CM
- Q04.8
- KEGG ID
- H01870
- MeSH descriptor ID
- C537555
- Microsoft Academic ID (discontinued)
- 2779984562
- Mondo ID
- MONDO_0011504
- OMIM ID
- 605013
- Orphanet ID
- 443162
- Raras disease ID
- D443162
- UMLS CUI
- C1857977
- UniProt disease ID
- DI-04102
🔗 Connections
Subclass of 2
Genetic association 1
Instance of 1
← Genetic association 1
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