Rare Disease Library

Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome

Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome

Brachydactyly-short stature-retinitis pigmentosa syndrome

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

Cutaneous mastocytosis-deafness-microtia syndrome

Mastocytosis-short stature-hearing loss syndrome · Cutaneous mastocytosis-hearing loss-microtia syndrome

Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome

Cutis verticis gyrata-retinitis pigmentosa-neurosensory deafness syndrome · Cutis verticis gyrata-retinitis pigmentosa-neurosensory hearing loss syndrome

Dysmorphism-short stature-deafness-difference of sex development syndrome

Dysmorphism-short stature-hearing loss-disorder of sex development syndrome · Dysmorphism-short stature-deafness-disorder of sex development syndrome

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

FILS syndrome

Gingival fibromatosis-facial dysmorphism syndrome

Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome

KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome

Diets-Jongmans Syndrome

Myhre syndrome

Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome · Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

OBSOLETE: Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome

OBSOLETE: Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome · OBSOLETE: Osteochondrodysplatic dwarfism-hearing loss-retinitis pigmentosa syndrome

Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome · PHARC syndrome

Primary ciliary dyskinesia-retinitis pigmentosa syndrome

Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

Edwards-Sethi syndrome · Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome

Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome

Retinal dystrophy-juvenile cataract-short stature syndrome

Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome

Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome

Thong-Douglas-Ferrante syndrome · Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

SOFT syndrome

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

Weiss-Kruszka Syndrome

Metopic ridging-ptosis-facial dysmorphism syndrome

Wiedemann-Steiner syndrome

Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome