Global Variome shared LOVD

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Phenotype #0000357294 Individual ID 00472484 Associated disease NDD Diagnosis/Initial congenital lactic acidosis Diagnosis/Definite CHOCNS Phenotype details see paper; ..., no prenatal anomalies; neonatal naundice, feeding difficulties; short stature; developmental delay; intellectual disability; no autism; no behavioral problems; 22m-sit; walk not acquired; 4y-speech, single words; hypotonia; seizures, generalized convulsions; MRI brain cerebellar vermis hypoplasia, agenesis of the corpus callosum, pituitary hypoplasia; unilateral strabismus; no gastrointestinal anomalies; micropenis, cryptorchidism; ectopic and fused kidneys, partial gh deficiency; occipital plagiocephaly, frontal bossing, small low-set ears, large mouth, no incisor Inheritance Isolated (sporadic) Age/Examination 12y (12 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 2026-02-18 11:04:57 +01:00 (CET) Date last edited N/A

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