XLID101 is characterised by intellectual disability, global developmental delay and facial dysmorphism.
Mental and behavioural disorders
Mental retardation
X-linked recessive
Xq22.3
XLID101 is characterised by intellectual disability, global developmental delay and facial dysmorphism.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613192.3.2 | Tunisia | Male | Yes | Yes | Intellectual disability, profound; Autis... Intellectual disability, profound; Autism; Secondary microcephaly; Global developmental delay; Absent speech; Cerebral cortical atrophy; Cerebellar atrophy; Thin corpus callosum; Abnormal periventricular white matter morphology; Generalized hypotonia; Loss of ambulation; Hyperactivity; Irritability; Self-mutilation; Aggressive behavior; Abnormal facial shape  | NM_012216.4:c.166C>T | Hemizygous, Homozygous | Autosomal, X-linked, Recessive | Kharrat et al. 2024 | Brother of 613192.3.... |