Phenotype #0000352592

Individual ID	00467385
Associated disease	?
Diagnosis/Initial	excess RNA splicing intron retention
Diagnosis/Definite	-
Phenotype details	short stature; microcephaly; no generalized hypotonia; no neurodevelopmental delay; no intellectual disability; no seizures; no ataxia; no ventriculomegaly; no peripheral neuropathy; no scoliosis; no coxa valga; no syndactyly; no joint hypermobility; no immunodeficiency; no growth hormone deficiency; hypothyroidism; adrenal insufficiency; no diabetes mellitus; retinal anomalies; no nystagmus; no oculomotor apraxia; no exotropia; no arrhythmia; 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
Created by	Johan den Dunnen
Date created	2025-10-12 18:39:22 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD