Phenotype #0000327858

Individual ID	00437951
Associated disease	WITKOS
Diagnosis/Initial	-
Diagnosis/Definite	WITKOS
Phenotype details	see paper; ..., birth 39w, weight 3.23 (-0.5); hypotonia; feeding difficulties; UTI at 2 weeks, unilateral renal scar; no intellectual disability; global developmental delay; language delay, 2y6mlanguage delay, 3y-first words; 12m-sit unassisted; 18m-first steps; high functioning autism; aggressive behavior, developmental coordination disorder; no neurological hypotonia; ; small nose; small; triangular face, pointed when seen prominent but not pointed chin; broad forehead, mandibular prognathia; constipation, sacral dimple, bilateral little finger clinodactyly, hallux valgus, 2nd toe overrides first and third bilaterally. hirsute on back as baby. pes planus, hypermobile in ankles
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	13y6m
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-10-17 21:19:59 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD