Phenotype #0000337120

Individual ID 00447928
Associated disease CSS
Diagnosis/Initial Coffin-Siris Syndrome
Diagnosis/Definite CSS6
Phenotype details see paper; ..., egg donation, weight 3 kg, length 49 cm; feeding difficulties; no congenital heart disease; no seizures; 18m-walk; no strabismus; ptosis; genitourinary reflux; short stature; sacral dimple; high-riding anus; low blood zinc; growth hormone deficiency
Inheritance Unknown
Age/Examination 1y (1 year)
Age/Diagnosis 2m
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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