KENNY-CAFFEY SYNDROME, TYPE 1

KENNY-CAFFEY SYNDROME, AUTOSOMAL RECESSIVE

http://purl.bioontology.org/ontology/OMIM/244460

KENNY-CAFFEY SYNDROME, AUTOSOMAL RECESSIVE

KCS

KCS1

C1855648

1q42-q43

TBCE

KCS

PEAMO

HRD

KCS1

http://purl.bioontology.org/ontology/OMIM/MTHU001753

http://purl.bioontology.org/ontology/OMIM/MTHU012017

http://purl.bioontology.org/ontology/OMIM/MTHU012015

http://purl.bioontology.org/ontology/OMIM/MTHU004627

http://purl.bioontology.org/ontology/OMIM/MTHU012009

http://purl.bioontology.org/ontology/OMIM/MTHU012013

http://purl.bioontology.org/ontology/OMIM/MTHU012019

http://purl.bioontology.org/ontology/OMIM/MTHU000504

http://purl.bioontology.org/ontology/OMIM/MTHU002606

http://purl.bioontology.org/ontology/OMIM/MTHU012023

http://purl.bioontology.org/ontology/OMIM/MTHU012022

http://purl.bioontology.org/ontology/OMIM/MTHU012010

http://purl.bioontology.org/ontology/OMIM/MTHU003105

http://purl.bioontology.org/ontology/OMIM/MTHU012020

http://purl.bioontology.org/ontology/OMIM/MTHU001789

http://purl.bioontology.org/ontology/OMIM/MTHU036379

http://purl.bioontology.org/ontology/OMIM/MTHU001486

http://purl.bioontology.org/ontology/OMIM/MTHU012012

http://purl.bioontology.org/ontology/OMIM/MTHU012018

http://purl.bioontology.org/ontology/OMIM/MTHU012016

http://purl.bioontology.org/ontology/OMIM/MTHU012014

http://purl.bioontology.org/ontology/OMIM/MTHU012011

http://purl.bioontology.org/ontology/OMIM/MTHU005900

http://purl.bioontology.org/ontology/OMIM/MTHU037171

http://purl.bioontology.org/ontology/OMIM/MTHU012021

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU005355

Phenotype description, molecular basis known.

244460

3

pound

KENNY-CAFFEY SYNDROME, TYPE 1

Allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) [MISCELLANEOUS]

Caused by mutations in the tubulin-specific chaperone E gene (TBCE, 604934.0001) [MOLECULAR BASIS]

T047