Phenotype #0000050914

Individual ID 00064756
Associated disease DD
Phenotype details see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), growth delay (HP:0001510), multifocal eeg abnormality (HP:0010841), intellectual disability (HP:0001249), limb hypertonia (HP:0002509), expressive language delay (HP:0002474), failure to thrive (HP:0001508), feeding difficulties (HP:0011968), cortical visual impairment (HP:0100704), nystagmus (HP:0000639), inability to walk (HP:0002540), cleft palate (HP:0000175), infantile axial hypotonia (HP:0009062), myoclonus (HP:0001336)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 04y (4 years)
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 2016-05-10 22:16:14 +02:00 (CEST)
Date last edited N/A

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