Microcephaly, short stature, and polymicrogyria with or without seizures

Preferred Label : Microcephaly, short stature, and polymicrogyria with or without seizures;

Symbol : MSSP;

CISMeF acronym : MSSP; PMGYS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PMGYS; Polymicrogyria with seizures;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the rotatin gene (RTTN, 610436.0001);

Prefixed ID : #614833;

Details

Origin ID

614833;

UMLS CUI

C3553831;

Automatic exact mappings (from CISMeF team)
- Bilateral generalized polymicrogyria [ORDO Disease]
- RBMS1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) [SNOMED CT concept]
- Microcephalic cortical malformations-short stature due to RTTN deficiency [ORDO Disease]
Genes related to phenotype
- Rotatin [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Agenesis of corpus callosum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Decreased body weight [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- Dysplastic corpus callosum [HPO term]
- EEG abnormality [HPO term]
- Flexion contracture [HPO term]
- Intellectual disability, moderate [HPO term]
- Lissencephaly [HPO term]
- Microcephaly [HPO term]
- Microphthalmia [HPO term]
- Mild short stature [HPO term]
- Narrow mouth [HPO term]
- Optic nerve hypoplasia [HPO term]
- Polymicrogyria [HPO term]
- Poor speech [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
- Thin ribs [HPO term]
Not associated HPO term(s)
- Situs inversus totalis [HPO term]
ORDO concept(s)
- Microcephalic cortical malformations-short stature due to RTTN deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) [SNOMED CT concept]

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