Phenotype #0000015383

Individual ID 00017024
Associated disease MRX;IDX
Phenotype details severe intellectual disability, not able to walk, no speech, spastic paraplegia, dystonia, strabismus, optic atrophy, cryptorchidism, short stature (150 cm, <3rd centile), severely underweight (28 kg), OFC 54 cm (3rd-10th centile); 2y6m-MRI brain severely delayed myelination; thyroid parameters showed low T4, normal TSH, elevated T3
Diagnosis/Initial Allan-Herndon-Dudley syndrome
Inheritance Familial, X-linked recessive
Diagnosis/Definite -
Age/Examination 17y (17 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Birth_Details -
Protein -
Owner name Andreas Tzschach
Database submission license No license selected
Created by Andreas Tzschach
Date created 2014-06-04 15:54:16 +02:00 (CEST)
Date last edited 2021-12-02 12:01:57 +01:00 (CET)

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