Additional Disease Briefs

microcephaly and chorioretinopathy 1

Also known as: MCCRP1, Pseudotoxoplasmosis syndrome, TUBGCP6 microcephaly and chorioretinopathy, autosomal recessive chorioretinopathy-microcephaly syndrome, 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, 1, microcephaly and chorioretinopathy, autosomal recessive, type 1

microcephaly and chorioretinopathy 2

Also known as: MCCRP2, PLK4 microcephaly and chorioretinopathy, microcephaly and chorioretinopathy caused by mutation in PLK4, microcephaly and chorioretinopathy type 2, microcephaly and chorioretinopathy, autosomal recessive, 2, microcephaly and chorioretinopathy, autosomal recessive, type 2

microcephaly and chorioretinopathy 3

Also known as: MCCRP3, TUBGCP4 microcephaly and chorioretinopathy, microcephaly and chorioretinopathy caused by mutation in TUBGCP4, microcephaly and chorioretinopathy type 3, microcephaly and chorioretinopathy, autosomal recessive, 3, microcephaly and chorioretinopathy, autosomal recessive, type 3

microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

Also known as: Cdmmr syndrome, MCLMR, MLCRD, Mlcrd syndrome, chorioretinal dysplasia-microcephaly-intellectual disability syndrome, chorioretinal dysplasia-microcephaly-mental retardation syndrome, lymphedema and retinal Folds with microcephaly and microphthalmos, lymphedema and retinal folds with ficrocephaly and microphthalmos, lymphedema, microcephaly and chorioretinopathy syndrome, lymphedema, microcephaly, chorioretinopathy syndrome, microcephaly and chorioretinopathy with or without intellectual disability, autosomal dominant, microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant, microcephaly lymphedema chorioretinal dysplasia, microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability, microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, microcephaly, lymphedema, chorioretinal dysplasia syndrome, microcephaly-lymphedema-chorioretinopathy syndrome

microcephaly with simplified gyral pattern

Also known as: microcephaly with simplified gyral pattern

microcephaly-brain defect-spasticity-hypernatremia syndrome

Also known as: Franek-Bocker-Kahlen syndrome, microcephaly - brain defect - spasticity - hypernatremia, microcephaly brain defect spasticity hypernatremia

microcephaly-capillary malformation syndrome

Also known as: MIC-CAP syndrome, MIC-CM syndrome, MICCAP, microcephaly-capillary malformation syndrome, microcephaly-cutaneous capillary malformation syndrome

microcephaly-cardiomyopathy syndrome

Also known as: Winship-Viljoen-Leary syndrome, microcephaly with cardiomyopathy, microcephaly-cardiomyopathy, severe microcephaly and self-limiting dilated cardiomyopathy, severe microcephaly with intellectual disability and dilated cardiomyopathy, severe microcephaly with mental retardation and dilated cardiomyopathy

microcephaly-complex motor and sensory axonal neuropathy syndrome

microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Also known as: MCCPD, Sc4Mol deficiency, microcephaly, congenital cataract, and psoriasiform dermatitis, smo deficiency, sterol-C4-methyl oxidase deficiency