Phenotype #0000229641

Individual ID 00302559
Associated disease PAP
Phenotype details see paper; ..., mild psychomotor development delay; no gelastic epilepsy; no hypothalamic hamartoma; no microcephaly; dysmorphic facial features; chest and rib abnormalities; postaxial polydactyly; 5/6 syndactyly; no cardiac defect; no Hirschsprung disease
Diagnosis/Initial eune asphyxiating thoracic dysplasia
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 5y (5 years)
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Sophie Thomas
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-05-24 16:50:39 +02:00 (CEST)
Date last edited N/A

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