Phenotype #0000201811

Individual ID 00263904
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details Generalized abnormality of skin (HP:0011354); Intellectual disability, mild (HP:0001256); Ptosis (HP:0000508); Restlessness (HP:0000711); Abnormality of skin pigmentation (HP:0001000); Neurodevelopmental abnormality (HP:0012759); Behavioral abnormality (HP:0000708); Impaired pain sensation (HP:0007328); Delayed speech and language development (HP:0000750); Abnormality of higher mental function (HP:0011446); Global developmental delay (HP:0001263); Febrile seizures (HP:0002373); Sensory impairment (HP:0003474)
Inheritance Unknown
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2019-08-30 19:56:57 +02:00 (CEST)
Date last edited 2019-09-30 12:26:24 +02:00 (CEST)

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