Phenotype #0000257611

Individual ID	00362197
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Inheritance	Isolated (sporadic)
Phenotype details	see paper; ..., short stature, hypotonia, decreased scalp hair, no body hirsutism; coarse facies, no thick eyebrows, no prominent eyelashes, no flat nasal bridge, no short nose, no anteverted nares, broad nasal tip, wide nasal base, no thick alae nasi, prominent philtrum, no wide mouth, micrognathia, retrognathia, no low set ears, downslanting palpebral fissure, no highly arched palate, high forehead, thick upper lip vermilion, thick lower lip vermilion; small nails on 5th digit, clinodactyly, delayed bone age, brachydactyly; cognitive delay; attention deficit hyperactivity disorder, sensitivity to loud noise; strabismus, no myopia, hypermetropia, no ptosis
Age/Examination	04y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-04-15 19:26:28 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD