Phenotype #0000187396

Individual ID 00248402
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details HP:0005105 (Abnormal nasal morphology); HP:0001249 (Intellectual disability); HP:0000316 (Hypertelorism); HP:0010882 (Pulmonary valve atresia); HP:0002121 (Absence seizures); HP:0000256 (Macrocephaly); HP:0010954 (Hypoplastic right heart); HP:0011220 (Prominent forehead); HP:0001744 (Splenomegaly); HP:0000475 (Broad neck)
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 2019-07-23 17:05:26 +02:00 (CEST)
Date last edited 2019-09-30 12:26:24 +02:00 (CEST)

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