Phenotype #0000061148

Individual ID 00081546
Associated disease CDG2
Phenotype details HP:0008947 Hypotonia, HP:0000252 Microcephaly, HP: 0000278 Retrognathia, HP:0100490 Camptodactilia, HP:0001761 Pes cavus, HP:0002611 Cholestatic liver, HP: 0000112 nephropathy, HP:0000938 osteopenia, HP: 0007178 Peripheral motor neuronopathy
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Leslie Matalonga
Database submission license No license selected
Created by Leslie Matalonga
Date created 2016-10-17 17:06:27 +02:00 (CEST)
Date last edited 2016-10-21 13:38:35 +02:00 (CEST)

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