Global Variome shared LOVD

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Phenotype #0000357152 Individual ID 00472349 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDDFAC Phenotype details see paper; ..., gross motor delay; no speech (non-verbal); severe intellectual disability; no autistic features; complex partial seizures; scoliosis; sleep disturbance; partial agenesis corpus callosum (absent posterior body and splenium); decreased white matter volume; tall forehead, frontal bossing; hypertelorism, down-slanting palpebral fissures; dysplastic ears; wide nasal bridge and tip; small mouth with full lips; precocious puberty; congenital heart defects; constipation, gastro-oesophageal reflux disease, congenital choledochal cyst/cholecystectomy, caecostomy tube placement, ileostomy; septo-optic dysplasia; hgh deficiency; common variable immunodeficiency Inheritance Isolated (sporadic) Age/Examination 14y (14 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 2026-02-03 12:00:08 +01:00 (CET) Date last edited N/A

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