Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000179276 Individual ID 00238983 Associated disease FDH Phenotype details Severe intellectual disability and evidence of auto and heteroaggressive conduct. Facial asymmetry, left microphtalmia, low set dysplastic ears, a narrow auditory canal, bifid lower lip, oligodontia, an arborescent papilloma in the mental region, prognathism and pointed chin, anteverted nares, a narrow nasal bridge and sparse hair with patchy alopecia. Atrophy of the skin, syndactyly of the third and fourth finger of the right hand, a split left hand, a cleft right foot and adactylia of the left hallux Diagnosis/Initial FDH Inheritance Familial, X-linked dominant Diagnosis/Definite FDH Age/Examination 08y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maria Paola Lombardi Database submission license No license selected Created by Maria Paola Lombardi Date created 2019-05-29 16:50:57 +02:00 (CEST) Date last edited N/A

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