Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the nervous system
Autosomal dominant
9q22.32
Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated. Holoprosencephaly-7 (HPE7) is caused by heterozygous mutation in the PTCH1 gene on chromosome 9q22. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 610828.1 | United Arab Emirates | Male | No | No | Macrocephaly; Global developmental delay... Macrocephaly; Global developmental delay; Hypotonia  | NM_000264.3:c.518_521dup | Heterozygous | Saleh et al. 2021 | de novo mutation |