Phenotype #0000250751

Individual ID	00332563
Associated disease	LADD
Phenotype details	no alacrima, no aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, no conjunctivitis; no cup-shaped ear, no small ears, no hearing loss; no peg-shaped teeth, no microdontia, no hypodontia, no root anomalies, no dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, no first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, no facial dysmorphism
Diagnosis/Initial	LADD syndrome
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	LADD
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-02-22 18:25:41 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD