Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001163435.3:c.1370del | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
616900.5.1 | Algeria | Severe global developmental delay; Absent speech; Abnormal periventricular white matter morphology; Broad forehead; Bulbous nose; Open mouth; Thick vermilion border; Mandibular prognathia; Hearing impairment; Behavioral abnormality; Delayed skeletal maturation | Male | Yes | Yes | Proband |