Phenotype #0000058311

Individual ID 00078535
Associated disease ALS
Phenotype details pancytopenia (HP:0001876), leg pain (HP:?), nonitching rash on the right lower leg (HP:?), mild respiratory symptoms including runny nose and sneezing(HP:?), red-colored urine (HP:?), splenomegaly (HP:0001744), petechiae (HP:0000967), pancytopenia (HP:0001876), scaling eczemas (HP:0000964), proteinuria (HP:0000093),
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 01y
Phenotype/Onset bilateral orchidopexy (HP:?), idiopathic facial nerve palsy (HP:0010628), mycosis pedis (HP:?), pollinosis (HP:?)
Protein -
Owner name Jamie Zeegers
Database submission license No license selected
Created by Jamie Zeegers
Date created 2016-07-19 11:08:33 +02:00 (CEST)
Date last edited 2018-01-20 16:29:01 +01:00 (CET)

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