Phenotype #0000230290

Individual ID 00303206
Associated disease CATMANS
Phenotype details short stature (HP:0004322) -2.3 SD; vertebral anomalies (HP:0003468), butterfly vertebrae T10–11, scoliosis; no talipes (-HP:0001883); Manzke dysostosis/finger hyperphalangism (HP:0009495/HP:0030367); no other limb defects (-HP:0040068); no Pierre Robin sequence with cleft palate (-HP:0000201); microretrognathia (HP:0000308); no renal malformation (-HP:0012210); congenital heart defect (HP:0001627), hypoplastic left heart; mild developmental delay (HP 0001263); no muscular hypotonia (-HP:0001252); no failure to thrive (-HP:0001531); no microcephaly (-HP:0000252); facial dysmorphism (HP:0001999); no joint hypermobility (-HP:0001382); hepatomegaly
Diagnosis/Initial Catel-Manzke syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 13y (13 years)
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 2020-06-08 13:43:05 +02:00 (CEST)
Date last edited N/A

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