Phenotype #0000250709

Individual ID	00332521
Associated disease	?
Diagnosis/Initial	developmental delay
Diagnosis/Definite	-
Phenotype details	birth 38w, weight 2920g; weight 11.3 kg (27th %tile); length 86.5 cm (35th %tile); OFC 45.5 cm (2nd %tile); infantile hypotonia; laryngomalacia; gastro-oesophageal reflux disease; no recurrent pneumonia; serous otitis media; motor delay; speech delay; strabismus, bilateral ptosis s/p surgical repair; MRI brain normal; renal ultrasound normal; dysmorphic features; epicanthal folds; hypertelorism; no downslanting palpebral fissures; medially sparse eyebrows; submucous cleft palate, velopharyngeal incompetence; micrognathia; small, low set, posteriorly rotated ears; single transverse palmar crease; no broad thumbs and first toes; fifth finger clinodactyly; no hypoplastic nails; hypospadias; unilateral undescended testes (left), s/p repair
Inheritance	Isolated (sporadic)
Age/Examination	23m
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-02-19 19:19:34 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD