Global Variome shared LOVD

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Phenotype #0000257154 Individual ID 00222781 Associated disease progeroid Diagnosis/Initial progeroid syndrome Diagnosis/Definite - Phenotype details see paper; ..., triangular face, prominent eyes, crooked nose, septum deviation, mandibular hypoplasia; no juvenile alopezia, no loss of eyebrows, thin skin, prominent veins, no cutis laxa, no patchy hyperpigmentation, no dystrophic nails; generalized lipoatrophy; microcephaly; Wormian bones, no open cranial sutures, dental crowding, supernumerary teeth, delayed dentition; no short stature (32th percentile, growth hormone treatment), no low bone density, hypoplastic clavicles, no osteolytic foci, no joint hyperlaxity, no limited joint mobility; no intra-uterine growth retardation; no atherosclerosis; intention tremor; no developmental delay Inheritance Isolated (sporadic) Age/Examination - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2021-04-09 09:36:47 +02:00 (CEST) Date last edited N/A

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