Global Variome shared LOVD

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

Phenotype #0000268033 Individual ID 00372578 Associated disease IDDSADF Diagnosis/Initial - Diagnosis/Definite - Phenotype details Neurodevelopmental delay (HP:0012758), Unilateral ptosis (HP:0007687), Strabismus (HP:0000486), Intellectual disability (HP:0001249), Behavioral abnormality (HP:0000708), Broad forehead (HP:0000337), Sparse lateral eyebrow (HP:0005338), Epicanthus (HP:0000286), Low-set, posteriorly rotated ears (HP:0000368), Smooth philtrum (HP:0000319), Long philtrum (HP:0000343), Thin vermilion border (HP:0000233), High palate (HP:0000218), Dental malocclusion (HP:0000689), Microretrognathia (HP:0000308), Short metacarpal (HP:0010049), Clinodactyly of the 5th finger (HP:0004209), Lumbar hyperlordosis (HP:0002938), Brachycephaly (HP:0000248) Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Monia Ginevrino Database submission license No license selected Created by Monia Ginevrino Date created 2021-05-10 18:37:17 +02:00 (CEST) Date last edited 2021-05-11 10:15:33 +02:00 (CEST)

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