Phenotype #0000352210

Individual ID 00466847
Associated disease IFAP
Diagnosis/Initial IFAP/BRESHECK
Diagnosis/Definite IFAP1
Phenotype details see paper; ..., birth severe cutaneous abnormality with collodion membrane, congenital ichthyosis with taut skin face, eclabium, ectropion, microcephaly, cryptorchidism, flattened rudimentary ears, no scalp hair, no eyebrows, no eyelashes., upper limb malformations, no right hand, bilateral shortening ulna with radius aplasia, fixed elbows, oligodactyly right hand with only fifth digit present, left foot with absence fourth digit
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2025-09-24 09:32:34 +02:00 (CEST)
Date last edited N/A

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