Phenotype #0000232843

Individual ID 00307018
Associated disease DA
Phenotype details analysis 19w gestation (perinatal autopsy); weight 50%ile (249 g), height 48%ile (22 cm); small mouth (HP:0000160), retrognathia (HP:0000278); thin vermilion (HP:0000233), bifid uvula (HP:0000193); no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); no short stature (-HP:0004322); hip contractures (HP:0003273); no elbow contractures (-HP:0002987); knee contractures (HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); equinovarus (HP:0001762); no camptodactyly, toes (-HP:0001836); no undescended testicles (-HP:0000028); short neck (HP:0000470)
Diagnosis/Initial distal arthrogryposis
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination <0d
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-07-27 19:22:39 +02:00 (CEST)
Date last edited N/A

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