Global Variome shared LOVD

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Phenotype #0000043113 Individual ID 00048030 Associated disease CSS Diagnosis/Initial Coffin-Siris syndrome Diagnosis/Definite CSS3 Phenotype details see paper; ..., birth 33w; intellectual disability; 30m-walk; no speech; no hypotonia; seizures [y]; vision problem; hearing loss; frequent infections; feeding problems; hyperactivity; coarse face; low frontal hairline; no synophrys; thick eyebrows; long eyelashes; ptosis; no narrow palpebral fissures; flat nasal bridge; broad nose; no upturned nasal tip; no thick, anteverted alae nasi; large mouth; thin upper vermillion; thick lower vermillion; macroglossia; no short philtrum; no long philtrum; small auditory canal; no cleft palate; a/hypoplasia distal phalanges V (2-4); no prominent distal phalanges; sandal gap; delayed bone age; scoliosis; cryptorchidism; VSD, ASD, pulmonic stenosis; body hirsutism; no increased skin wrinkling; no fetal finger pads; sparse scalp hair; bilateral nail a/hypoplasia; delayed dentition; no small cerebellum; no Dandy-Walker anomaly; abnormal corpus callosum; pylorus stenosis Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis 00y04m Age/Onset - Phenotype/Onset - Protein - Owner name Eline van der Sluijs Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2016-01-09 05:52:48 +01:00 (CET) Date last edited 2023-11-03 11:59:26 +01:00 (CET)

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