Phenotype #0000125488

Individual ID 00152126
Associated disease CPCMR
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details cleft soft palate (HP:0000185); Ebstein's malformation (HP:0010316); VSD (HP:0011682); type secundum atrial septal defect (HP:0001684); high forehead (HP:0000348); broad forehead (HP:0000337); arched eyebrows (HP:0002553); thin eyebrows (HP:0045074); hypoplastic alae nasi (HP:0000430); short philtrum (HP:0000322); lowset ears (HP:0000369); dysplastic ears (HP:0000377); preauricular pit (HP:0004467); intellectual disability (HP:0001256); feeding difficulties (HP:0011968); oligodontia (HP:0000677); overriding toes (HP:0001845)
Inheritance Familial, autosomal dominant
Age/Examination -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Jeroen Breckpot
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Jeroen Breckpot
Date created 2018-02-02 11:58:21 +01:00 (CET)
Date last edited N/A

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