Female
No
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_153816.6:c.809_813del | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
616354.5 | Yemen | Intellectual disability; Motor delay; Delayed speech and language development; Delayed social development; Seizure; Hypotonia; Nystagmus; Inability to walk; Cerebellar atrophy; Coarse facial features; Joint stiffness; Scoliosis; Pectus carinatum; Hepatosplenomegaly; Hernia | Male | No | Yes | |
616354.7 | Yemen | Intellectual disability; Autistic behavior; Delayed gross motor development; Poor fine motor coordination; Absent speech; Delayed gross motor development; Hypotonia; Dysdiadochokinesis; Cerebellar atrophy; Retrocerebellar cyst; Coarse facial features; Optic atrophy; Sensorineural hearing impairment ; Clinodactyly; Hepatosplenomegaly; Ureteral duplication; Hydronephrosis | Yes | Yes | The patient had 3 affected siblings, 2 of whom were deceased | |
616354.9 | Yemen | Intellectual disability; Autistic behavior; Motor delay; Delayed speech and language development; Delayed social development ; Hypotonia; Cerebellar atrophy; Retrocerebellar cyst; Coarse facial features; Hypertrichosis; Macroglossia | Male | Yes | Yes | The patient had a similarly affected sister |
616354.10 | Yemen | Intellectual disability; Autistic behavior; Motor delay; Delayed speech and language development; Delayed social development ; Hypotonia; Cerebellar atrophy; Nystagmus; Coarse facial features; Hypertrichosis; Macroglossia | Female | No | Yes | |
616354.11 | Yemen | Intellectual disability; Motor delay; Delayed speech and language development; Delayed social development ; Hypotonia; Cerebellar atrophy; Hepatosplenomegaly; Inability to walk; Coarse facial features | No | Yes |