Phenotype #0000349734

Individual ID 00462234
Associated disease HVDAS;MRD28
Phenotype details HP:0000750, HP:0001256, HP:0000252, HP:0001956, HP: 0030088, HP:0034589, HP:5200125, HP:0100716, HP:0000141, HP:0002591.
Diagnosis/Initial Neurodevelopmental disorder
Inheritance Isolated (sporadic)
Diagnosis/Definite HVDAS
Age/Examination 24
Age/Diagnosis 24
Age/Onset -
Phenotype/Onset -
Birth_Details -
Birth/Weight -
MotorSkills -
Speech speech delayed (HP:0000750)
Hypotonia n/a
Protein -
Intellectual_dis mild
Pupil n/a
Owner name Pietro Palumbo
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Pietro Palumbo
Date created 2025-02-04 11:06:57 +01:00 (CET)
Date last edited 2026-02-17 15:08:59 +01:00 (CET)

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