Phenotype #0000050905

Individual ID 00064747
Associated disease DD
Phenotype details see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), growth delay (HP:0001510), limb hypertonia (HP:0002509), failure to thrive (HP:0001508), cleft palate (HP:0000175), delayed speech and language development (HP:0000750), dystonia (HP:0001332), infantile axial hypotonia (HP:0009062), congenital hypothyroidism (HP:0000851), adducted thumb (HP:0001181), abnormality of ocular smooth pursuit (HP:0000617), stridor (HP:0010307), limb dystonia (HP:0002451)
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 21:43:13 +02:00 (CEST)
Date last edited N/A

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