Alopecia-intellectual disability syndrome 4

Preferred Label : Alopecia-intellectual disability syndrome 4;

Symbol : APMR4;

CISMeF acronym : APMR4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Alopecia-mental retardation syndrome 4;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lanosterol synthase gene (LSS, 600909.0010);

Laboratory abnormalities : Normal or low cholesterol;

Prefixed ID : #618840;

Details

Origin ID

618840;

UMLS CUI

C5394241;

Genes related to phenotype
- Lanosterol synthase [OMIM gene]
HPO term(s)
- Agitation [HPO term]
- Alopecia [HPO term]
- Autistic behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral cryptorchidism [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Erythroderma [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypospadias [HPO term]
- Ichthyosis [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Alopecia-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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