Mental and behavioural disorders
Mental retardation
Autosomal dominant
14q32.31
MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 614563.1 | United Arab Emirates | Unknown | Developmental regression; Seizure; Mic... Developmental regression; Seizure; Microcephaly; Cataract; Lissencephaly; Pachygyria; Gray matter heterotopia;  | NM_001376.5:c.10973G>A | Heterozygous | Autosomal, Dominant | Al-Shamsi et al. 2016 | |||
| 614563.2 | Syria | Male | No | No | Talipes equinovarus; Global developmenta... Talipes equinovarus; Global developmental delay; Poor head control; Secondary microcephaly; Seizure; Hypotonia; Developmental cataract; Cortical dysplasia | NM_001376.5:c.10973G>A | Heterozygous | Autosomal, Dominant | Hertecant et al. 2016 | de novo mutation |