has material basis in germline mutation in disease has feature TUBGCP6 microcephaly and chorioretinopathy syndromic disease microcephaly and chorioretinopathy 1 https://github.com/monarch-initiative/mondo/pull/2571/ https://www.malacards.org/card/autosomal_recessive_chorioretinopathy_microcephaly_syndrome https://www.malacards.org/card/microcephaly_and_chorioretinopathy_1 https://www.malacards.org/card/microcephaly_and_chorioretinopathy_autosomal_recessive_1 OMIM:251270 Pseudotoxoplasmosis syndrome Orphanet:2518 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. MEDGEN:480111 microcephaly and chorioretinopathy, autosomal recessive, 1 NCIT:C129306 DOID:0080105 MCCRP1 autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome GARD:0016603 microcephaly and chorioretinopathy type 1 TUBGCP6 microcephaly and chorioretinopathy UMLS:C3278481 microcephaly and chorioretinopathy 1 microcephaly and chorioretinopathy, autosomal recessive, type 1 MONDO:0009624 microcephaly and chorioretinopathy caused by mutation in TUBGCP6 obsolete neuro-ophthalmological disease inherited retinal dystrophy