Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the nervous system
Autosomal recessive
15q21.1
Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 614852.1 | Saudi Arabia | Male | No | Yes | Polymicrogyria ; Dilation of lateral ven... Polymicrogyria ; Dilation of lateral ventricles; Microphthalmia; Hypertonia ; Spasticity  | NM_001194998.1:c.95A>C | Homozygous | Autosomal, Recessive | Shaheen et al. 2019 |