Mental and behavioural disorders
Mental retardation
Autosomal recessive
19p13.12
This condition is characterised by severe intellectual disability, delayed psychomotor development, poor or absent speech and limited verbal comprehension. Affected individuals generally exhibit a dull facial expression, hyperactivity and short attention spans.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 608443.1.1 | Egypt | Male | Yes | Yes | Intellectual disability, mild; Aggressiv... Intellectual disability, mild; Aggressive behavior  | NM_017721.5:c.2693del | Homozygous | Autosomal, Recessive | Reuter et al. 2017 | |
| 608443.1.2 | Egypt | Female | Yes | Yes | Intellectual disability, mild; Aggressiv... Intellectual disability, mild; Aggressive behavior | NM_017721.5:c.2693del | Homozygous | Autosomal, Recessive | Reuter et al. 2017 | Relative of 608443.1... |