Phenotype #0000155616

Individual ID 00207832
Associated disease RFMN
Diagnosis/Initial Roifman syndrome
Diagnosis/Definite RFMN
Phenotype details see paper; markedly long philtrum with thin upper lip, narrow, tubular and upturned nose with hypoplastic alae nasi, widely spaced eyes with long palpebral fissures, prominent lashes, ...
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
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 2018-12-01 18:24:15 +01:00 (CET)
Date last edited 2018-12-01 18:28:14 +01:00 (CET)

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