Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_177924.5:c.290T>G | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
228000.1.1 | Saudi Arabia | Global developmental delay; Hypotonia; Myoclonic spasms; Delayed speech and language development; Intellectual disability; Frontal bossing; Nystagmus; Abnormal visual fixation; Subcutaneous nodule; Skeletal muscle atrophy; Generalized myoclonic seizure; Flexion contracture; Sensory neuropathy; Motor polyneuropathy; Corneal opacity | Male | Yes | Yes | |
228000.1.2 | Saudi Arabia | Global developmental delay; Hypotonia; Seizure; Delayed speech and language development; Knee flexion contracture; Subcutaneous nodule; Global brain atrophy; Demyelinating peripheral neuropathy; Hip dysplasia; Increased hepatic echogenicity | Female | Yes | Yes | Fraternal twin sister of 228000.1.1 |
228000.1.4 | Saudi Arabia | Female | Yes | Mother of 228000.1.1 | ||
228000.1.5 | Saudi Arabia | Female | Yes | Yes | Sister of 228000.1.1 |