Phenotype #0000279488

Individual ID 00385433
Associated disease CHTD
Phenotype details atrial septal defect typeII; mild developmental dealy; no microcephaly; intra‐uterine growth retardation; post‐natal growth retardation; normal oral cavity; retinal pigment changes, minimal optic nerve hypoplasia; sacral dimple, narrow thorax, frontal bossing, bitemporal narrowing, palpebral fissures short and slant up, sparse eyelashes, infraorbital folds, anteverted nares, thin upper lip, flat long philtrum, low posterior hair line, low set dysplastic ears
Diagnosis/Initial congenital heart defect
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
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 2021-10-11 14:59:36 +02:00 (CEST)
Date last edited N/A

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