multiple congenital anomalies-hypotonia-seizures syndrome

Findings

No curated finding names multiple congenital anomalies-hypotonia-seizures syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• hereditary disease
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Narrower terms (4)

• developmental and epileptic encephalopathy, 77
• multiple congenital anomalies-hypotonia-seizures syndrome 1
• multiple congenital anomalies-hypotonia-seizures syndrome 2
• multiple congenital anomalies-hypotonia-seizures syndrome 3