Phenotype #0000236408

Individual ID 00311153
Associated disease CAKUT
Phenotype details excessive femoral anteversion, gait disturbance; alopecia, ectodermal dysplasia; hyponatremia, hypothyroidism, ichthyosis, neutropenia, photophobia, recurrent infections, abnormal thrombosis, thrombocytopenia; global developmental delay, mild intellectual disability, rotary nystagmus, seizures
Diagnosis/Initial CAKUT
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
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 2020-09-19 20:49:28 +02:00 (CEST)
Date last edited N/A

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