Phenotype #0000330238

Individual ID 00047967
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite CSS1
Inheritance Isolated (sporadic)
Phenotype details see paper; ..., severe developmental delay; no speech; 28m-walk; muscular hypotonia; MRI brain retrocerebellar cyst; no seizures; no hearing loss; no heart malformation; no cleft palate; plagiocephaly, frontal bossing; low-set and/or posteriorly rotated ears; abnormally shaped ears; downslanting palpebral fissures; strabism; bulbous nasal tip; no thin upper lip; normal teeth; retro/micrognathia; normal hands/feet; clitoris hypertrophy and long philtrum
Age/Examination 03y03m (3 years, 3 months)
Age/Diagnosis -
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 2023-11-01 17:08:49 +01:00 (CET)
Date last edited N/A

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