Name Nestor-Guillermo Progeria Syndrome
Synonyms PROGERIA SYNDROME, CHILDHOOD-ONSET, WITH OSTEOLYSIS; PSCOO
Classification bone, developmental, endocrine, genetic, skin
Phenotypes Abnormality of the forearm; Abnormality of the ribs; Atherosclerosis; Autosomal recessive inheritance; Convex nasal ridge; Delayed closure of the anterior fontanelle; Dental crowding; Failure to thrive; Flexion contracture; Hypertension; Joint stiffness; Lipoatrophy; Malar flattening; Micrognathia; Midface retrusion; Osteolytic defects of the distal phalanges of the hand; Osteoporosis; Progressive clavicular acroosteolysis; Proptosis; Pulmonary arterial hypertension; Right bundle branch block; Scoliosis; Short stature; Sinus tachycardia; Sparse and thin eyebrow; Sparse eyelashes; Spotty hyperpigmentation; Wide cranial sutures
Associated Genes BANF1 (Withdrawn symbols: BAF )
Mouse Orthologs Banf1 (Withdrawn symbols: C78287 )
Source
OMIM:614008 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)