IHPMR is a neurodevelopmental disorder characterized by hypotonia and psychomotor retardation. Abnormal brain morphology and myopathic changes were noted in some patients.
Diseases of the nervous system
Diseases of myoneural junction and muscle
Autosomal recessive
3p25.1
IHPMR is a neurodevelopmental disorder characterized by hypotonia and psychomotor retardation. Abnormal brain morphology and myopathic changes were noted in some patients.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 616816.1 | Saudi Arabia | Female | Yes | Yes | Seizure; Developmental regression Seizure; Developmental regression  | NM_016474.5:c.884G>C | Homozygous | Autosomal, Recessive | Monies et al. 2017 | Patient has two sibl... |