Global Variome shared LOVD

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Phenotype #0000299030 Individual ID 00406555 Associated disease RRS Phenotype details weight -0.5 SD, length -4.0 SD, OFC -0.5 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; no upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; no crowded teeth; gingival overgrowth; micrognathia; no natal teeth; no midline abdominal defect/umbilical hernia; absent/hypoplastic labia or clitoris; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; fused vertebrae; 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 3y3m (3 years, 3 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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