Phenotype #0000337117

Individual ID 00447925
Associated disease CSS
Diagnosis/Initial Coffin-Siris Syndrome
Diagnosis/Definite CSS6
Phenotype details see paper; ..., birth 39w+5, weight 2.9 kg (25th–30th%), length 48 cm (40th–50th%); feeding difficulties, slow weight gain, deep penetration on swallow study, on thickened feeds; no congenital heart disease; no hypotonia; no seizures; 19m-walk; 20m-first words; no strabismus; no myopia, no presbyopia, no astigmatism; no hearing loss; no cleft lip/palate; tonsillectomy/adenoidectomy; laryngeal cleft; no hip dysplasia; no scoliosis; hydrocoele; short stature (14m-5th-10th); small umbilical hernia; sascral dimple
Inheritance Unknown
Age/Examination 3y6m (3 years, 6 months)
Age/Diagnosis 1y3m
Age/Onset -
Phenotype/Onset -
Protein -
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 2024-02-01 16:08:19 +01:00 (CET)
Date last edited N/A

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