Diseases of the nervous system
Episodic and paroxysmal disorders
Autosomal dominant
6p21.32
Intellectual developmental disorder-5 (MRD5) is characterized by moderately to severely impaired intellectual development with delayed psychomotor development apparent in the first years of life. Most patients develop variable types of seizures, some have autism or autism spectrum disorder, and some have acquired microcephaly. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 612621.1 | Saudi Arabia | Male | Global developmental delay; Seizure Global developmental delay; Seizure  | NM_006772.3:c.490C>T | Heterozygous | Autosomal, Dominant | Monies et al. 2017 | |||
| 612621.2 | Saudi Arabia | Male | Global developmental delay; Hearing impa... Global developmental delay; Hearing impairment | NM_006772.3:c.739C>T | Heterozygous | Autosomal, Dominant | Monies et al. 2017 | |||
| 612621.3 | Saudi Arabia | Male | No | Yes | Seizure; Failure to thrive; Postnatal gr... Seizure; Failure to thrive; Postnatal growth retardation; Short stature; Intellectual disability | NM_006772.3:c.1677-2A>G | Heterozygous | Autosomal, Dominant | Monies et al. 2017 |