Table 1.
Clinical and Radiologic Features and RNF13 Variant in the Three Affected Individuals
| Pt/Sex/Age | Head Circumference at Birth (cm) (Percentile) | Presenting Symptoms | Age at First Seizure/ Types | Intellectual Disability | Hearing | Other Clinical Findings | Brain MRI | Hetero-zygous Variant in RNF13 |
|---|---|---|---|---|---|---|---|---|
| 1/M/died at 33 months | 31.5 (3rd percentile) | feeding difficulties, irritability, increased tone |
7 weeks/multiple | profound | deaf bilaterally | contractures, FTT, scoliosis | thin CC | p.Leu311Ser |
| 2/M/8 years | 30.0 (−2.6 SD) | respiratory distress, irritability, low central tone, arching, feeding difficulties | 7 months/ infantile spasms | profound | normal | dysmorphic features,a FTT, Inguinal hernia, contractures, spastic extremities, scoliosis, hip dysplasia, delayed bone age, idiopathic high B12 levelsb | delayed myelination, thin CC, subsequent volume loss | p.Leu312Pro |
| 3/M/21 months | 29.5 (−2.8 SD) | seizures | 2 months/GTCS | profound | deaf bilaterally | contractures, cataract, FTT, inguinal hernia | N.A. | p.Leu312Pro |
Abbreviations are as follows: FTT, failure to thrive; CC, corpus callosum; N.A., not available; GTCS, general tonic clonic; ahypodontia, dysplastic nails, tapered fingers, edema and puffiness of hands and feet, very hypermobile fingers and wrists, and short toes; b >2000 pg/mL.