Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
1q32.2
Temple-Baraitser syndrome is a rare developmental disorder characterized by severe mental retardation and anomalies of the first ray of the upper and lower limbs with absence/hypoplasia of the nails. Most patients also have seizures; various dysmorphic facial features have been reported. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 611816.1 | Lebanon | Male | No | No | Generalized hypotonia; Global developme... Generalized hypotonia; Global developmental delay; Absent distal phalanges; Absent nail of hallux; Abnormal facial shape  | NM_172362.3:c.1123G>A | Heterozygous | Autosomal, Dominant | Mégarbané et al, 2016 | Authors consider Tem... |