Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the nervous system
3p25.2
Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 612389.1 | Lebanon | Unknown | Yes | Cerebellar hypoplasia; Hypoplasia of the... Cerebellar hypoplasia; Hypoplasia of the brainstem; Dysmetria; Ataxia  | NM_025265.4:c.1333G>A | Homozygous | Autosomal, Recessive | Jalkh et al. 2019 |