Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the nervous system
Autosomal recessive
15q14
Andermann syndrome is an autosomal recessive motor and sensory neuropathy with agenesis of the corpus callosum associated with developmental and neurodegenerative defects and dysmorphic features. It has a high prevalence in the French Canadian population in the Charlevoix and Saguenay-Lac-Saint-Jean region of Quebec. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 218000.1 | United Arab Emirates | Female | Yes | Yes | Generalized hypotonia; Global developmen... Generalized hypotonia; Global developmental delay; Ataxia; Talipes equinovarus; Pes cavus ; Kyphoscoliosis; Polyneuropathy ; Abnormal facial shape  | NM_001365088.1:c.745+2T>A | Homozygous | Autosomal, Recessive | Alabdullatif et al. 2017 | Similarly affected s... |