Female
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 |
---|---|---|---|---|---|---|
606003.7 | 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 |
606003.8 | United Arab Emirates | Premature birth; Small for gestational age; Bilateral cryptorchidism; Hernia; Recurrent lower respiratory tract infections; Failure to thrive; Hepatomegaly; Leukopenia; Scaling skin; Telangiectasia; Hyperpigmentation of the skin; Hypergonadotropic hypogonadism; Decreased testicular size | Male | Yes | Yes | Patient had a sister with recurrent chest infections and dilated cardiomyopathy and died from an upper gastrointestinal bleed at 13 years of age. short stature premature birth with a birth weight bilateral orchiopexy, hernia repair, recurrent chest infections failure to thrive , mild hepatomegaly and leukopeni dry, scaly skin, cutaneous telangiectasia, and hyperpigmentation. Cardiac examination revealed a soft ejection systolic murmur at the left lower sternal border leukopenia, the horm |