Phenotypes for disease #05167 (HMLR1 (Heimler syndrome, type 1 (HMLR1)), OMIM:234580)

6 entries on 1 page. Showing entries 1 - 6.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000053268 Heimler Syndrome patient; sensorineural hearing loss (HP:0000407), amelogenesis imperfecta (HP:0000705), nail abnormalities (HP:0001597) - - Familial, autosomal recessive - - - - - Glenda Beaman 00072286
0000079445 Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), Severe sensorineural hearing impairment (HP:0008625), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597), retinal pigmentation (HP:0007703), no macular dystrophy (-HP:0007754) - - Familial, autosomal recessive 24y - 01y06m - - Jamie Zeegers 00065272
0000079446 Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (-HP:?), onychoschizia (HP:?), retinal pigmentation (HP:0007703), no macular dystrophy (-HP:0007754) - - Familial, autosomal recessive 21y 01y - - - Jamie Zeegers 00065273
0000079447 Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), severe sensorineural hearing impairment (HP:0008625), Beau’s lines (-HP:?), onychoschizia (HP:?), retinal pigmentation (HP:0007703), no macular dystrophy (-HP:0007754) - - Familial, autosomal recessive 16y 00y00m - - - Jamie Zeegers 00065274
0000079448 Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (-HP:?), leukonychia (HP:0001820), retinal pigmentation (HP:0007703), no macular dystrophy (HP:0007754) - - Familial, autosomal recessive 21y 03y - - - Jamie Zeegers 00065275
0000079449 Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (-HP:?), leukonychia (HP:0001820), retinal pigmentation (HP:0007703), no macular dystrophy (HP:0007754) - - Familial, autosomal recessive 21y 03y - - - Jamie Zeegers 00065276
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