Global Variome shared LOVD

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Phenotype #0000299032 Individual ID 00406557 Associated disease RRS Phenotype details weight -1.8 SD, length -3.0 SD, OFC -2.7 SD; Delayed; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; crowded teeth; gingival overgrowth; micrognathia; natal teeth; midline abdominal defect/umbilical hernia; absent/hypoplastic labia or clitoris; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; no fused vertebrae; no hemivertebrae; spina bifida; no scoliosis; no rib crowding and fusion; ECG normal Diagnosis/Initial Robinow syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite RRS1 Age/Examination 5y4m (5 years, 4 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-04-01 13:30:47 +02:00 (CEST) Date last edited N/A

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