Global Variome shared LOVD

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

Phenotype #0000352589 Individual ID 00467382 Associated disease ? Diagnosis/Initial excess RNA splicing intron retention Diagnosis/Definite - Phenotype details short stature; microcephaly; generalized hypotonia; no neurodevelopmental delay; intellectual disability; no seizures; no ataxia; ventriculomegaly; no peripheral neuropathy; scoliosis; no coxa valga; syndactyly; no joint hypermobility; no immunodeficiency; growth hormone deficiency; no hypothyroidism; no adrenal insufficiency; no diabetes mellitus; retinal anomalies; no nystagmus; no oculomotor apraxia; exotropia; arrhythmia; no congestive heart failure Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-10-12 18:39:22 +02:00 (CEST) Date last edited N/A

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