Mental and behavioural disorders
Mental retardation
Autosomal recessive
3p26.2
Rare non-syndromic intellectual disability is a rare, hereditary, neurologic disease characterized by early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits. Autosomal recessive nonsyndromic mental retardation-2 (MRT2) is caused by homozygous mutation in the gene encoding cereblon on chromosome 3p26. [From Orphanet and OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 607417.1 | United Arab Emirates | Female | Yes | Yes | Global developmental delay Global developmental delay  | NM_016302.4:c.1016+1G>C | Homozygous | Autosomal, Recessive | Saleh et al. 2021 | |
| 607417.G.1 | Syria | Yes | Yes | Intellectual disability, mild Intellectual disability, mild | NM_016302.4:c.835+1G>A | Homozygous | Autosomal, Recessive | Reuter et al. 2017 | 3 members of a famil... |