Phenotype #0000125489

Individual ID 00152128
Associated disease CPCMR
Diagnosis/Initial -
Diagnosis/Definite MEIS2-related syndrome
Phenotype details ventricular septal defect (HP:0011682); secundum atrial septal defect (HP:0001684); pulmonary vein stenosis (HP:0005304); frontal bossing (HP:0002007); high frontal hairline (HP:0009890); bitemporal narrowing (HP:0000341); short palpebral fissures (HP:0012745); hypertelorism (HP:0000316); full cheeks (HP:0000293); low nasal bridge (HP:0005280); anteverted nares (HP:0000463); small mouth (HP:0000160); microcephaly (HP:0000252); short stature (HP:0004322); intellectual disability, profound (HP:0002187); duodenal stenosis (HP:0100867); feeding difficulties (HP:0011968); hypothyroidism (HP:0000851); inguinal hernia (HP:0000023)
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 12:12:11 +01:00 (CET)
Date last edited N/A

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