Phenotype #0000051202

Individual ID 00065098
Associated disease ID
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Phenotype details tented upper lip (HP:0010804), sloped forehead (HP:?), bulbous nose (HP:0000414), hypothyroidism (HP:0000821), recurrent candidiasis (HP:0012204), diffuse brain atrophy (HP:0002283), no ventilator dependence (-HP:0005946); severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270); no speech (HP:0001344)
Age/Examination 11y (11 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Jamie Zeegers
Database submission license No license selected
Created by Jamie Zeegers
Date created 2016-05-17 14:04:14 +02:00 (CEST)
Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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