Microcephaly 27, primary, autosomal dominant

Preferred Label : Microcephaly 27, primary, autosomal dominant;

Symbol : MCPH27;

Type : Phenotype, molecular basis known;

Prefixed ID : #619180;

Details

Origin ID

619180;

UMLS CUI

C5543051;

Genes related to phenotype
- Lamin b2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Chronic constipation [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Drooling [HPO term]
- Extra-axial cerebrospinal fluid accumulation [HPO term]
- Global developmental delay [HPO term]
- Hip subluxation [HPO term]
- Joint hypermobility [HPO term]
- Metatarsus adductus [HPO term]
- Micropenis [HPO term]
- Primary microcephaly [HPO term]
- Short finger [HPO term]
- Simplified gyral pattern [HPO term]
- Tapered finger [HPO term]
- Trigonocephaly [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Autosomal dominant primary microcephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Autosomal dominant primary microcephaly [ORDO Disease]

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