Phenotype #0000230565

Individual ID	00303487
Associated disease	THC
Diagnosis/Initial	thrombocytopenia
Diagnosis/Definite	TKS
Phenotype details	see paper; ..., birth 39w, weight 2,290 g (−1.8 SD), length 46 cm (−1.5 SD); arched eyebrows, mild ptosis, eversion lateral portio lower eyelid, exotropia, midfacial hypoplasia, short philtrum, thin upper lip, malocclusion; length 135 cm (−4.3 SD), weight 33 kg (−3.0 SD); psychomotor development delayed walk-3y no seizures/no epilepsy; no ataxia; no cerebellar atrophy; ventriculomegaly; platelet count 63,000/μl, platelet size increased hemoglobin 12.5 g/dl; white blood count 2,300/μl; progressive microcephaly; camptodactyly; lymphedema; protein‐losing enteropathy; sensory neural hearing loss; no patent ductus arteriosus; no inguinal hernia
Inheritance	Isolated (sporadic)
Age/Examination	22y (22 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-14 16:24:38 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD