Global Variome shared LOVD

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Phenotype #0000043093 Individual ID 00056421 Associated disease CSS Diagnosis/Initial Coffin-Siris syndrome Diagnosis/Definite CSS1 Phenotype details see paper; ..., birth 38w; intellectual disability; 12m-sit, 24m-walk; 48m-first words; hypotonia; no seizures; refractory error; no hearing loss; no frequent infections; no behavioural anomalies; 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; thick, anteverted alae nasi; large mouth; thin upper vermillion; thick lower vermillion; no macroglossia; no short philtrum; long philtrum; no abnormal ears; no cleft palate; a/hypoplasia distal phalanges V; prominent interphalangeal joints; prominent distal phalanges; no sandal gap; no spinal anomalies; delayed bone age; scoliosis; no cryptorchidism; no congenital heart disease; body hirsutism; no increased skin wrinkling; no fetal finger pads; sparse scalp hair; nail a/hypoplasia; delayed dentition; no small cerebellum; no Dandy-Walker anomaly; abnormal corpus callosum; umbilical hernia Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis 08y 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 05:00:10 +01:00 (CET) Date last edited 2023-11-03 12:48:42 +01:00 (CET)

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