Microcephaly and chorioretinopathy, autosomal recessive, 2

Preferred Label : Microcephaly and chorioretinopathy, autosomal recessive, 2;

Symbol : MCCRP2;

CISMeF acronym : MCCRP2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the polo-like kinase 4 gene (PLK4, 605031.0001);

Prefixed ID : #616171;

Details

Origin ID

616171;

UMLS CUI

C4015388;

DO Cross reference
- microcephaly and chorioretinopathy 2 [DO Concept]
Genes related to phenotype
- Polo-like kinase 4 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Congenital onset [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Macular atrophy [HPO term]
- Microcephaly [HPO term]
- Microcornea [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Optic atrophy [HPO term]
- Optic disc pallor [HPO term]
- Prominent nose [HPO term]
- Proptosis [HPO term]
- Retinopathy [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Simplified gyral pattern [HPO term]
- Sloping forehead [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Seckel syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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