Phenotype #0000228584

Individual ID 00301406
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details Prelingual sensorineural hearing impairment (HP:0000399); Thickened nuchal skin fold (HP:0000474); Delayed speech and language development (HP:0000750); Seizures (HP:0001250); Decreased antibody level in blood (HP:0004313); Relative macrocephaly (HP:0004482); Diffuse white matter abnormalities (HP:0007204); Congenital nephrotic syndrome (HP:0008677); Ureter duplex (HP:0012572)
Inheritance Unknown
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name IMGAG
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by IMGAG
Date created 2020-05-15 11:33:01 +02:00 (CEST)
Date last edited 2020-05-28 14:26:16 +02:00 (CEST)

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