Phenotype #0000318758

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00427782
Associated disease	TCS
Diagnosis/Initial	Treacher Collins syndrome
Diagnosis/Definite	TCS2
Phenotype details	downward slanting palpebral fissures; lower eyelid coloboma; hypoplasia zygomatic complex; hypoplasia mandible; no microtia; no conductive deafness; no cleft palate; no tracheostoma; no delayed motor development; no speech delay
Inheritance	Unknown
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-12-13 12:11:05 +01:00 (CET)
Date last edited	N/A

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