Phenotype #0000015228

Individual ID	00016703
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	Short stature, Narrow/high palate, Reduced ability to open mouth, Decreased facial expression, Ophthalmoplegia, Deep-set eyes, Ptosis, Hypermetropia, Duane anomaly, Abnormal retinal pigmentation, Macular retinal folds, Hunched anteverted shoulders, Restrictive lung disease, Spine stiffness, Hypermobile first metacarpophalageal, Absent phalangeal creases, Poorly formed palmar creases, Limited wrist extension, Camptodactyly, Clinodactyly, Exertional dyspnea, FEV1/FVC 28%/26%, Increased muscle tone, Tendon reflexes weak, Normal intelligence, Hearing loss
Inheritance	Isolated (sporadic)
Age/Examination	38y (38 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Marianne Vos (LOVD-team)
Database submission license	No license selected
Created by	Marianne Vos (LOVD-team)
Date created	2014-05-27 10:11:41 +02:00 (CEST)
Date last edited	2016-06-18 21:34:22 +02:00 (CEST)

Global Variome shared LOVD