Phenotype #0000061049

Individual ID 00081463
Associated disease ID
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details Abnormality of male external genitalia (HP:0000032); Cryptorchidism (HP:0000028); Micropenis (HP:0000054); Shawl scrotum (HP:0000049); Intellectual disability (HP:0001249); Muscular hypotonia (HP:0001252); Behavioral abnormality (HP:0000708); Autistic behavior (HP:0000729); Seizures (HP:0001250); Abnormality of the eye (HP:0000478); Impaired smooth pursuit (HP:0007772); Pineal cyst (HP:0012683); Abnormality of the outer ear (HP:0000356); Low-set ears (HP:0000369); Posteriorly rotated ears (HP:0000358); Abnormality of the face (HP:0000271); Facial asymmetry (HP:0000324); Hypertelorism (HP:0000316); Prominent nose (HP:0000448); Cutis marmorata (HP:0000965); Lymphangioma (HP:0100764); intellectual disability (HP:0001249); no motor delay (-HP:0001270); no speech delay (-HP:0000750)
Age/Examination 14y10m (14 years, 10 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Sébastien Küry
Database submission license No license selected
Created by Sébastien Küry
Date created 2016-10-14 10:41:28 +02:00 (CEST)
Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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