From: Adult phenotype and further phenotypic variability in SRD5A3-CDG
Clinical findings | Morava cohort[4] | Kahrizi cohort[8] | Kasapkara patient[7] | Our patients [this paper] | |
---|---|---|---|---|---|
Origin | |||||
Turkish | 5/12 | 0/3 | 1/1 | 2/2 | |
Iranian | 0/12 | 3/3 | 0/1 | 0/2 | |
Baluchi | 4/12 | 0/3 | 0/1 | 0/2 | |
Polish | 3/12 | 0/3 | 0/1 | 0/2 | |
Age at diagnosis | 6 month-12 years | Adulthood | 3.5 years | Adulthood | |
Eye findings | |||||
Ocular coloboma | 5/12 | 2/3 | 0/1 | 0/2 | |
Hypoplasia of optic discs | 3/12 | 0/3 | 1/1 | 0/2 | |
Optic atrophy | 8/12 | 0/3 | 1/1 | 2/2 | |
Nystagmus | 12/12 | 0/3 | 1/1 | 2/2 | |
Glaucoma | 1/12 | 0/3 | 0/1 | 0/2 | |
Cataract | 2/12 | 3/3 | 0/1 | 0/2 | |
Bone spicule pigmentation | 0/12 | 0/3 | 0/1 | 2/2 | |
Visual impairment | 11/12 | ?/3 | 1/1 | 2/2 | |
Strabismus | NA | 0/3 | 1/1 | 0/2 | |
Microphthalmia | 2/12 | 0/3 | 0/1 | 0/2 | |
Neurologic findings | |||||
Muscle hypotonia | 10/12 | 0/3 | 1/1 | 0/2 | |
Motor retardation | 8/12 | 3/3 | 1/1 | 2/2 | |
Intellectual disability | 12/12 | 3/3 | 1/1 | 2/2 | |
Cerebellar vermis atrophy | 5/11 | 0/3 | 1/1 | NA | |
Global cerebellar atrophy | 2/11 | 0/3 | 1/1 | NA | |
Cerebellar ataxia | 10/11 | 0/3 | 1/1 | 2/2 | |
Spasticity | 5/12 | 0/3 | 0/1 | 2/2 | |
Movement disorder | 3/12 | 0/3 | 0/1 | 0/2 | |
Stereotypic movements | 3/12 | 0/3 | 0/1 | 0/2 | |
Seizures | NA | 0/3 | 0/1 | 0/2 | |
Microcephaly | NA | 0/3 | 1/1 | 0/2 | |
Dysmorphism | ?/12 | 3/3 | 1/1 | 0/2 | |
Ichthyosiform skin lesions | 1/12 | 0/3 | 1/1 | 0/2 | |
Hepato-intestinal disease | 0/12 | 0/3 | 0/1 | 0/2 | |
Skeletal findings | |||||
Kyphosis | 0/12 | 3/3 | 0/1 | 0/2 | |
Short upper extremities | 0/12 | 0/3 | 0/1 | 1/2 | |
Contractures of large joints | 0/12 | 3/3 | 0/1 | 0/2 | |
Congenital cardiac abnormalities | 3/12 | 0/3 | 1/1 | NA | |
Coagulation abnormalities | 7/8 | NA | 0/1 | 0/1 | |
Elevated liver enzymes | 9/10 | NA | 0/1 | 0/1 | |
Microcytic anemia | 8/11 | NA | 0/1 | 0/1 | |
Type I TIEF pattern | 12/12 | 0/3 | 1/1 | 1 + NA/2 | |
W19X mutation | 2/12 | 0/2 | 0/1 | 2/2 |