1st allele |
c.911_912delCT, S304CfsX4
| c.3287C→G, S1096X |
c.3691_3694delCAGT, Q1231HfsX3
| c.274G→C, V92L |
c.2083_2085delATG, M695del
|
2nd allele | c.2387T→C, L796P | c.3038G→A, R1013H |
c.3691_3694delCAGT, Q1231HfsX3
| c.274G→C, V92L |
c.2083_2085delATG, M695del
|
Present age, age at death (years, months) (d) | 0, 5 | 0, 4 (d) | 0, 2 (d) | 1, 11 (d) | 0, 3 (d) |
Clinical signs | | | | | |
Dysmorphic features | | | | | |
Large fontanelle, wide sutures | + | + | + | ND | + |
High forehead | + | + | + | + | + |
Broad nasal bridge | + | + | + | + | + |
Hypertelorism | + | + | + | + | + |
Epicanthus | + | − | + | − | + |
External ear deformity | − | + | + | + | + |
Sickle foot | − | + | + | + | + |
Cerebral | | | | | |
Poor sucking | + | + | + | + | + |
Gavage feeding | − | + | + | − | + |
Hypotonia | + | + | + | + | + |
Severe psychomotor retardation | + | + | + | + | + |
Seizures | − | + | + | − | + |
Ocular | | | | | |
Cataract | − | − | ND | − | ND |
Retinitis pigmentosa | − | − | ND | − | ND |
Optic atrophy | + | + | ND | − | ND |
Nystagmus | − | − | ND | − | ND |
Hepato-renal | | | | | |
Hepatomegaly | − | − | + | − | + |
Liver fibrosis | − | − | + | − | − |
Raised liver enzymes | + | + | + | − | − |
Renal cysts | + | − | + | ND | ND |
Skeletal system | | | | | |
Calcific stipling | ND | ND | ND | ND | + |