Disease #05888 (NEDCAS (neurodevelopmental disorder with cerebellar atrophy, with/without seizures (NEDCAS)), OMIM:618056)

Official abbreviation NEDCAS
Name neurodevelopmental disorder with cerebellar atrophy, with/without seizures (NEDCAS)
OMIM ID 618056
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene BRAT1
Associated tissues -
Disease features -
Remarks -
Date created 2020-12-29 18:59:54 +01:00 (CET)
Date last edited N/A


Individuals

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00445167 277909 - - F no Germany - - - - - NEDCAS Abnormality of the hip-girdle musculature, Abnormality of the musculature of the lower limbs, Delayed speech and language development, Myopia, Microcephaly, Drooling, Thin upper lip vermilion, Abnormality of dental morphology BRAT1 BRAT1 2 1 Andreas Laner
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