Genetics

ELN gene

ACAT1 gene

Jackson-Weiss syndrome

Intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies

Sensorineural deafness and male infertility

GRN gene

Isolated lissencephaly sequence

Beta-mannosidosis

Frontotemporal dementia with parkinsonism-17

TUBB4A-related leukodystrophy

TBC1D20 gene

Dilated cardiomyopathy with ataxia syndrome