Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_018668.4:c.700+1G>A | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 208085.4.1 | Saudi Arabia | Fetal distress; Cutis laxa; Ichthyosis; Prominent occiput; Jaundice; Hepatomegaly; Generalized hypotonia; Elbow flexion contracture; Contractures of the joints of the lower limbs; Contractures of the joints of the upper limbs; Hip dislocation; Cholestasis; Osteopenia; Polyuria; Metabolic acidosis; Hypernatremia; Nephrogenic diabetes insipidus; Hypoplasia of the corpus callosum; Failure to thrive; Diarrhea | Male | Yes | Compound heterozygous patient |