Global Variome shared LOVD

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Phenotype #0000359677 Individual ID 00474884 Associated disease NDD Diagnosis/Initial neurodevelopmental syndrome Diagnosis/Definite DEDHIL Phenotype details see paper; ..., no prenatal anomalies; unsteady gait, broad-based gait; thin corpus callosum; global moderate developmental delay, 20m-walk, 2y-firts words; strabismus; no hearing loss; hypoplastic uvula; spontaneously resolving VSD; no respiratory problems; no gastrointestinal problems, no feeding difficulties; no renal anomalies; no genitourinary problems; no hematologic problems; joint laxity; no immunological problems; hypertrichosis; mother intellectual disability, hypertrichosis (fetus ventriculomegaly, hypoplastic thumbs, IUGR, anal imperforation, pelvic kidney, right aortic arch); father intellectual disability, microcephaly (-3.5SD); downturned corner of the mouth, synophrys, highly arched eyebrows; flat feet, right single transverse palmar fold Inheritance Familial, autosomal dominant Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-27 14:20:42 +01:00 (CET) Date last edited N/A

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