Disease #00621

Official abbreviation STL-4
Name Stickler syndrome, type IV (STL-4)
OMIM ID 614134
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 6
Phenotype entries for this disease 6
Associated with 1 gene COL9A1
Associated tissues -
Disease features -
Remarks -


Individuals

6 entries on 1 page. Showing entries 1 - 6.
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00207702 - - - F yes United Kingdom (Great Britain) - - 0 - - STL-4 Congenital sensorineural hyearing loss High myopia Hypoplastic vitreous gel COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3 COL9A1 1 1 Thomas Nixon
00207703 - - - M yes United Kingdom (Great Britain) - - 0 - - STL-4 Congenital sensorineural hearing loss High myopia Hypoplastic vitreous Flat midface COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3 COL9A2 1 1 Thomas Nixon
00207704 - - - F yes United Kingdom (Great Britain) - - 0 - - STL-4 Congenital sensorineural hearing loss High myopia Hypoplastic vitreous Snailtrack retinal degeneration with round retinal holes Early hip arthropathy COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3 COL9A2 1 2 Thomas Nixon
00207705 - - - M yes United Kingdom (Great Britain) - - 0 - - STL-4 Congenital sensorineural hearing loss Myopia Hypoplastic vitreous Mild knee arthropathy COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3 COL9A2 1 1 Thomas Nixon
00207706 - - - F yes United Kingdom (Great Britain) - - 0 - - STL-4 Congenital sensorineural hearing loss High myopia Hypoplastic vitreous gel Severe arthropathy in shoulders and hip Spinal scoliosis COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3 COL9A3 1 2 Thomas Nixon
00207707 - - - M yes United Kingdom (Great Britain) - - 0 - - STL-4 Congenital sensorineural hearing loss High myopia Hypoplastic vitreous COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3 COL9A3 1 1 Thomas Nixon
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