Family | ID | Gene | Variant | Zyg | Clinical features of patients | MIM | Phenotypic expansion |
---|---|---|---|---|---|---|---|
037 | BAB6843 | MYO5A | NM_000259.3:c.4200C > G:p.Ser1400Arg | Hom | DD, seizures, cerebellar atrophy, nystagmus, dystonia | 214450 | Lacks classical Griscelli syndrome phenotype of skin hypopigmentation and silver-grey hair |
019 | BAB6938 | ANKRD11 | NM_013275.5:c.5317G > T:p.E1773* | Het | DD/ID, hypotonia, esotropia, hyperopia, astigmatism, broad nasal bridge, hypertelorism, epicanthal folds, retrognathia, cryptorchidism | 148050 | Hypotonia, esotropia, hyperopia, astigmatism |
022 | BAB6787 | KIAA0226 | NM_014687.2:c.1642A > G:p.Thr548Ala | Hom | DD/ID, hypotonia, diffuse cortical hypomyelination, contractures of elbows and knees, nystagmus | 615705 | Hypotonia, contractures, lacks cerebellar atrophy |
NM_014687.2:c.319G > A:p.Glu107Lys | Hom | ||||||
024 | BAB6793 | C12ORF57 | NM_138425.3:c.53-2A > G | Hom | DD/ID, ADHD, bilateral hydronephrosis and VUR, atrophic non-functioning left kidney | 218340 | Vesicoureteric reflux and bilateral hydronephrosis, small non-functioning left kidney |
034 | BAB6835 | VPS13B | NM_152564.4:c.1219C > T:p.Gln407* | Hom | DD/ID, ADHD, microcephaly, hypotonia, joint hyperlaxity, unsteady gait, severe dental caries | 216550 | Autistic behavior, unsteady gait, severe dental caries |
026 | BAB7039 | ATP2B3 | NM_001001344.2:c.3594G > T:p.Lys1198Asn | Hem | DD/ID, microcephaly, abnormal cortical pattern, hypotonia and muscle atrophy, oropharyngeal dysphagia, dental caries | 302500 | Microcephaly, abnormal cortical pattern, muscle atrophy, oropharyngeal dysphagia |