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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/306990
http://purl.bioontology.org/ontology/OMIM/306990
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|---|---|
| Preferred Name | MICROHYDRANENCEPHALY, X-LINKED |
| Synonyms |
MHACX
HOLOPROSENCEPHALY WITH FETAL AKINESIA/HYPOKINESIA SEQUENCE
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MHACX
HOLOPROSENCEPHALY WITH FETAL AKINESIA/HYPOKINESIA SEQUENCE
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|---|---|
| prefLabel | MICROHYDRANENCEPHALY, X-LINKED
|
| Scope Statement | Based on report of 6 patients from 2 families (last curated August 2022) [MISCELLANEOUS]
Carrier females may have mild expression of phenotype (short stature and microcephaly) [MISCELLANEOUS]
Perinatal lethal for males [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| MIMTYPEMEANING | Other, mainly phenotypes with suspected mendelian basis
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| notation | 306990
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1844016
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| OMIM Entry Type | 0
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| OMIM MimType Value | none
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| Delete | Subject | Author | Type | Created |
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| No notes to display |