microcephaly and chorioretinopathy 1
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.
MONDO:0015368
obsolete neuro-ophthalmological disease (obsolete MONDO:0015368)
excluded_subClassOf
MONDO:0000181
microcephaly and chorioretinopathy
is_a
MONDO:0002254
syndromic disease
is_a
MONDO:0019118
inherited retinal dystrophy
is_a
MCCRP1
related
Pseudotoxoplasmosis syndrome
exact
TUBGCP6 microcephaly and chorioretinopathy
exact
autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome
exact
microcephaly and chorioretinopathy 1
exact
microcephaly and chorioretinopathy caused by mutation in TUBGCP6
exact
microcephaly and chorioretinopathy type 1
exact
microcephaly and chorioretinopathy, autosomal recessive, 1
related
microcephaly and chorioretinopathy, autosomal recessive, type 1
exact
SPCC4G3.19