Lysosomal Storage Disorder

Gene: MAN2B1

Green List (high evidence)

Well established gene-disease association.

Clinical features include intellectual disability, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed motor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment

Created: 13 Apr 2021, 8:46 a.m. | Last Modified: 13 Apr 2021, 8:46 a.m.

Panel Version: 0.146

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mannosidosis, alpha-, types I and II, MIM# 248500; MONDO:0009561