(Q22938881)
English
microcephaly and chorioretinopathy 1
syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has material basis in homozygous or compound heterozygous mutation in the TUBGCP6 gene
- microcephaly and chorioretinopathy, autosomal recessive, type 1
- MCCRP1
Statements
1 reference
1 reference
1 reference
C129306
0 references
Identifiers
1 reference
1 reference