Phenotype #0000139688

Individual ID 00174863
Associated disease PSS
Phenotype details 6m-static encephalopathy, developmental delay; microcephaly, short stature, small phallus, unilateral absent testis, dysmorphic features including short forehead, prominent biparietal foramina, midline parietal cortical defect, flat midface, flat occiput, sensorineural hearing loss, epicanthal folds, protuberant ears, bulbous nasal tip continued below columella, depressed nasal root, small mouth and small chin (micrognathia), hypotonia, slight pectus excavatum, recurrent otitis media, slender fingers
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 02y03m (2 years, 3 months)
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 2018-08-13 21:51:05 +02:00 (CEST)
Date last edited N/A

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