Neurodevelopmental disorder with microcephaly and gray sclerae

Preferred Label : Neurodevelopmental disorder with microcephaly and gray sclerae;

Symbol : NEDMIGS;

CISMeF acronym : MRT55;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRT55; Mental retardation, autosomal recessive 55;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the pseudouridylate synthase 3 gene (PUS3, 616283.0001);

Prefixed ID : #617051;

Details

Origin ID

617051;

UMLS CUI

C4310745;

Automatic exact mappings (from CISMeF team)
- Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome [ORDO Disease]
Genes related to phenotype
- Pseudouridylate synthase 3 [OMIM gene]
HPO term(s)
- Arachnoid cyst [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Coarse facial features [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Impaired social interactions [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, profound [HPO term]
- Intellectual disability, severe [HPO term]
- Microcephaly [HPO term]
- Seizure [HPO term]
- Strabismus [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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