Global Variome shared LOVD

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Phenotype #0000249019 Individual ID 00330826 Associated disease 3MC Diagnosis/Initial 3MC syndrome Diagnosis/Definite 3MC1 Phenotype details see paper; ..., no short stature, mental retardation; arched eyebrows, telecanthus, hypertelorism, no blepharophimosis, blepharoptosis, downslanting palpebral fissures; no anterior chamber anomalies; hearing loss; no cleft lip/cleft palate; periumbilical depression; no omphalocele/umbilical hernia; no hip anomaly; no deviated or short fingers; no limitation elbow movements; no vertebral anomalies; no genital anomalies; no vesicorenal anomalies; caudal appendage Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-02-08 19:21:57 +01:00 (CET) Date last edited N/A

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