Phenotype #0000250754

Individual ID	00332566
Associated disease	LADD
Phenotype details	alacrima, aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, conjunctivitis; cup-shaped ear, small ears, hearing loss; peg-shaped teeth, microdontia, hypodontia, root anomalies, dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, facial dysmorphism (high forehead, telecanthus, hypotelorism, downslanting palpebral fissures, prognathia)
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