Phenotype #0000348094

Individual ID	00460366
Associated disease	NDD
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Phenotype details	see paper; ..., birth weight 2,390g (-2.34), length 45cm (-2.62), OFC 32cm (-2.50); height 144cm (-1.61), weight 37kg (-1.04), OFC 55.3cm (+1.24); 18m-walk; speech simple combination of words; very limited comprehension; no regression; moderate Intellectual disability; 6y-seizures (generalized tonic-clonic); MRI normal; hypotonia; no hypertonia; no movement disorder; stereotypies; attention-deficient hyperactive disorder; impaired sleep; short nose with anteverted nares, prominent forehead with depressed nasal bridge; normal hearing; hyperopia; clinodactyly 5th fingers bilaterally
Inheritance	Familial, autosomal recessive
Age/Examination	12y (12 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-01-24 19:20:35 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD