Phenotype #0000092542

Individual ID 00117295
Associated disease KDVS
Phenotype details Hypotonia; failure to thrive in infancy; abnormal hair texture; broad forehead; sparse eyebrows; long face; upslanting palpebral fissures; epicanthal folds; pear-shaped nose; large nasal bridge; bulbous nasal tip; long philtrum; large and/or prominent ears; broad chin; motor delay; moderate intellectual disability; happy, friendly disposition; dislocation of the hip; scoliosis; joint hyperextensibility; laryngospasm
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 14y (14 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Giuseppe Marangi
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Gerard C.P. Schaafsma
Date created 2012-05-31 14:37:29 +02:00 (CEST)
Date last edited N/A

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