Normal CSS | GATTCAG/ |
+1 | 1.00 | 1–0.83 | −2.074 |
Mutant CSS | GATTCAG/ |
+1 | - | - | - |
Predicted donor sites | CATGGTG/ |
+191 | 0.74 | 0–0.41 | −3.998 |
GACATGG/ |
+683 | 0.99 | 1–0.00 | −2.277 |
c.709A>G p.M237V | Exon 3 | Chr1: 20966418 | Early onset Parkinson disease 6 | 605909 | AR | VUS | |
c.3446-5 dupT | Intron 21 | Chr12: 80542081 | Autosomal recessive deafness 84A | 613391 | AR | Benign | |
Autosomal dominant deafness-73 | 617663 | AD | |||||
c.3622C>T p.R1208C | Exon 3 | Chr17: 18027809 | Autosomal recessive deafness-3 | 600316 | AR | VUS | |
c.5230T>A P.S1744T | Exon 20 | Chr17: 18043849 | VUS |
Microcephaly | + | ++ | No | No |
Large fontanelle | − | +++ | No | No |
Blepharo-nasal malformation | +++ | +++ | Yes | Yes |
Micrognathia and small mouth | +++ | +++ | Yes | Yes |
Irregular dentition | +++ | +++ | NA | NA |
Short stature | +++ | +++ | NA | NA |
Hypertelorism | +++ | +++ | No | No |
Epicanthic folds | +++ | +++ | Yes | Yes |
Camptodactyly | ++ | +++ | No | Yes |
Syndactyly | + | + | No | No |
Clubfoot | + | + | Yes | No |
Microtia | +++ | +++ | Yes | Yes |
Conductive hearing loss | +* | +++ | Yes | Yes |
Cardiac malformation | +* | + | No | Yes |
Infantile hypotonia | +* | +++ | No | No |
Developmental delay | +++ | +++ | NA | NA |
Feeding difficulties | + | +++ | Yes | Yes |
Choanal atresia/stenosis | − | ++ | No | No |
Tracheal anomalies | − | +++ | Yes | Yes |
Periventricular nodular heterotopia | − | ++ | Not performed | |
Corpus callosum anomalies | − | ++ | Not performed | |
Other brain anomalies | +* | + | ||
Renal anomalies | − | +++ | No | Yes |
Genital anomalies | edema | + | No | No |
Lymphedema limb | +++ | +* | No | No |
Primary intestinal lymphangiectasia | +++ | −* | No | No |
Other lymphangiectasia | ++ | − | No | No |