Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_006755.2:c.574C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
606003.2 | United Arab Emirates | Hepatosplenomegaly; Cutis laxa; Proteinuria; Left ventricular hypertrophy; Abnormality of the coagulation cascade; Splenomegaly; Hepatic failure; Hepatocellular carcinoma; Mesangial hypercellularity; Dry skin; Hypertension; Failure to thrive | Female | Yes | Yes | Belongs to a tribe of Saudi Arabian origin. Distantly related to 606003.1.1 |
606003.7 | United Arab Emirates | Failure to thrive in infancy; Hepatomegaly; Cirrhosis; Thrombocytopenia; Leukopenia; Horizontal nystagmus; Narrow face; Ichthyosis; Scaling skin; Hypergonadotropic hypogonadism; Moderate albuminuria; Stage 2 chronic kidney disease; Increased urinary sedoheptulose; Increased level of ribitol in urine; Elevated urine arabitol level; Repeated pneumothoraces | Female | Yes | Yes | Patient had two siblings who died after birth with unknown causes |