Global Variome shared LOVD

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

Phenotype #0000054366 Individual ID 00074600 Associated disease SLS Phenotype details HP:0012758 (neurodevelopmental delay); HP:0001622 (premature birth, 31 weeks, complications by infections at 6/7 months: malaria, varicella); HP:0007503 (generalized ichtyosis,neck, trunk, extremities); HP:0001250 (seizures; brief and isolated, remission without treatment); HP:0000962 (hyperkeratosis); HP:0000989 (pruritus); HP:0007894 (Fundus hypopigmentation, mild); HP:0007034 (generalized hyperreflexia); HP:0001264 (spastic diplegia, lower ex more than upper ex) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2016-07-08 21:57:40 +02:00 (CEST) Date last edited 2017-09-23 15:35:21 +02:00 (CEST)

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