/neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies

neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies

Rare Disease

MONDO:0032943

Also Known As

nabais sa-de vries syndrome, type 2NEDMACENEURODEVELOPMENTAL DISORDER WITH RELATIVE MACROCEPHALY AND WITH OR WITHOUT CARDIAC OR ENDOCRINE ANOMALIES

Comprehensive, easy-to-understand information about this condition

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Gene data from MyGene.info • Click to view on NCBI Gene

microcephaly and chorioretinopathy

MONDO:0000181

microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

MONDO:0007918

autosomal dominant primary microcephaly

MONDO:0007988

Prader-Willi syndrome

MONDO:0008300

Smith-Magenis syndrome

MONDO:0008434

microcephalic osteodysplastic primordial dwarfism type I

MONDO:0008871