Phenotype #0000299031

Individual ID 00406556
Associated disease RRS
Phenotype details weight -1.6 SD, length -2.1 SD, OFC -1.4 SD; delayed motor and mental milestones ; 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; no bifid tip of tongue; crowded teeth; gingival overgrowth; micrognathia; no natal teeth; midline abdominal defect/umbilical hernia; micropenis; mesomelia; brachydactyly; broad thumbs and big toes; no abnormal dermatoglyphics; no fused vertebrae; no hemivertebrae; spina bifida; no scoliosis; no rib crowding and fusion; ECG ventricular septal defect
Diagnosis/Initial Robinow syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite RRS1
Age/Examination 3y4m (3 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 InternationalCreative Commons License
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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