Clark-Baraitser Syndrome (CLABARS) is characterized by intellectual disabilities/developmental disabilities, delayed speech, autistic features/behavioural anomalies, seizure, and dysmorphic facial features. Some patients are also observed with microcephaly and obesity. CLABARS is associated with mutation in TRIP12 gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 617752.1 | United Arab Emirates | Male | Yes | Intellectual disability; Delayed speech ... Intellectual disability; Delayed speech and language development; Autistic behavior; Motor delay; Obesity; Narrow palpebral fissure; Downturned corners of mouth; Wide mouth; Epicanthus; Spindle-shaped finger  | NM_004238.1:c.2979dup | Heterozygous | Zhang et al. 2017 | Variant is de novo | ||
| 617752.2 | Saudi Arabia | Male | Intellectual disability; Delayed speech ... Intellectual disability; Delayed speech and language development; Autistic behavior; Hyperactivity; Motor delay; Sloping forehead; Prominent nasal bridge; Pointed chin; Large earlobe | NM_004238.1:c.3446_3447del | Heterozygous | Autosomal, Dominant | Zhang et al. 2017 | Variant is de novo |