LDAMD is a neurodevelopmental disorder characterized by leukodystrophy, acquired microcephaly, and delayed psychomotor/intellectual development. Additional clinical features noted among patients include seizure, dystonia, and nystagmus.
Diseases of the nervous system
Autosomal recessive
19q13.2
LDAMD is a neurodevelopmental disorder characterized by leukodystrophy, acquired microcephaly, and delayed psychomotor/intellectual development. Additional clinical features noted among patients include seizure, dystonia, and nystagmus.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 616763.1 | Saudi Arabia | Male | Yes | Yes | Microcephaly; Autism; Global development... Microcephaly; Autism; Global developmental delay; Short stature; Bilateral cryptorchidism; Hypopigmented skin patches  | NM_022835.3:c.1708G>A | Homozygous | Autosomal, Recessive | Monies et al. 2017 |