Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_032856.3:c.1039C>T | 2 | |||
NM_014630.2:c.3136G>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
251300.1.1 | Lebanon | Intellectual disability, profound; Microcephaly; Ataxia; Spasticity; Dystonia; Delayed gross motor development; Feeding difficulties; Cerebellar atrophy; Optic atrophy; Strabismus; Short stature | Male | Yes | Exhibited 2 distinct homozygous mutations. Phenotype likely attributed to the WDR73 mutation. | |
251300.1.2 | Lebanon | Intellectual disability, profound; Microcephaly; Spasticity; Delayed gross motor development ; Optic atrophy; Short stature ; Strabismus | Male | Yes | Sibling of 251300.1.1 | |
251300.1.4 | Lebanon | Microcephaly; Intellectual disability, profound; Spasticity; Dystonia; Delayed gross motor development; Optic atrophy; Short stature ; Strabismus | Male | Yes | Distant cousin of 251300.1.1 | |
251300.1.5 | Lebanon | Microcephaly; Intellectual disability, profound; Infantile axial hypotonia; Spasticity; Delayed gross motor development; Delayed speech and language development; Cerebellar atrophy; Optic atrophy; Short stature; Ptosis | Female | Yes | Distant cousin of 251300.1.1 | |
251300.1.6 | Lebanon | Male | Father of 251300.1.1 | |||
251300.1.7 | Lebanon | Female | Mother of 251300.1.1 | |||
251300.1.8 | Lebanon | Female | Mother of 251300.1.3 | |||
251300.1.9 | Lebanon | Male | Father of 251300.1.3 |