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Microcephaly And Chorioretinopathy 1 (MONDO:0009624)

An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.

Overview

Category

disorder of orbital region

syndromic disease

nervous system disorder

disorder of visual system

Ontology ID

MONDO:0009624

Internal:10844

Synonyms

Pseudotoxoplasmosis syndrome

TUBGCP6 microcephaly and chorioretinopathy

autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

microcephaly and chorioretinopathy 1

microcephaly and chorioretinopathy caused by mutation in TUBGCP6

microcephaly and chorioretinopathy type 1

microcephaly and chorioretinopathy, autosomal recessive, type 1

MCCRP1

autosomal recessive chorioretinopathy-microcephaly syndrome

microcephaly and chorioretinopathy, autosomal recessive, 1

Mapped terms

DOID:0080105

GARD:0016603

MEDGEN:480111

NCIT:C129306

OMIM:251270

Orphanet:2518

UMLS:C3278481

Child terms

Unknown children.

Results

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