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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-06-14 16:24:38 +02:00 (CEST)
Date last edited N/A

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