Phenotype #0000237101

Individual ID 00311853
Associated disease RRS
Phenotype details no macrocephaly, no frontal bossing, no high forehead, midface hypoplasia, hypertelorism, long eyelashes, prominent eyes, anteverted nares, wide nasal bridge, short nose, long philtrum, no triangular mouth, no gingival hyperplasia, no absent uvula, no cleft soft palate, dental anomalies, micrognathia; no mesomelia; no brachydactyly; clinodactyly; no camptodactyly; no broad thumb; fetal finger/toe pads; no broad 1st toe; genital hypoplasia; no renal anomalies; no cardiac anomalies
Diagnosis/Initial Robinow syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite NEDBAF
Age/Examination 13y02m (13 years, 2 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 2020-09-29 15:19:08 +02:00 (CEST)
Date last edited 2024-01-29 15:34:36 +01:00 (CET)

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