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Ontology Browser
Term:
Lipodystrophy - intellectual disability - deafness (EFO:Orphanet:50811)
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Parent Terms Term With Siblings Child Terms
acromegaly 
adult hypophosphatasia 
Albinism-deafness syndrome 
Arthrogryposis-like hand anomaly - sensorineural deafness 
Ataxia-deafness-intellectual disability syndrome 
Athabaskan brainstem dysgenesis syndrome 
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy 
Autosomal codominant severe lipodystrophic laminopathy 
Autosomal dominant deafness-onychodystrophy syndrome 
Bilateral microtia - deafness - cleft palate 
BOR syndrome 
Branchio-otic syndrome 
Cataract - ataxia - deafness 
Cataract - deafness - hypogonadism 
Caudal appendage - deafness 
Central nervous system calcification - deafness - tubular acidosis - anemia 
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss 
Charcot-Marie-Tooth disease - deafness - intellectual disability 
childhood-onset hypophosphatasia 
Choanal atresia-deafness-cardiac defects-dysmorphism syndrome 
Choroideremia - deafness - obesity 
Cleft lip/palate - deafness - sacral lipoma 
Cochleosaccular degeneration - cataract 
Cockayne syndrome +  
Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay 
Congenital disorder of glycosylation with deafness as a major feature 
Connective tissue disorder due to lysyl hydroxylase-3 deficiency 
Corneal dystrophy - perceptive deafness 
Deafness - small bowel diverticulosis - neuropathy 
Deafness - ear malformation - facial palsy 
Deafness - epiphyseal dysplasia - short stature 
Deafness - genital anomalies - metacarpal and metatarsal synostosis 
Deafness - hypogonadism 
Deafness - intellectual disability, Martin-Probst type 
Deafness - lymphedema - leukemia 
Deafness - oligodontia 
Deafness - vitiligo - achalasia 
Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability 
Developmental delay - deafness, Hildebrand type 
Developmental malformations - deafness - dystonia 
Dysmorphism - conductive hearing loss - heart defect 
Ectodermal dysplasia - sensorineural deafness 
Familial hypocalciuric hypercalcemia type 1 
Familial hypocalciuric hypercalcemia type 2 
Familial hypocalciuric hypercalcemia type 3 
Familial partial lipodystrophy due to AKT2 mutations 
Familial partial lipodystrophy, Köbberling type 
Generalized congenital lipodystrophy with myopathy 
Genetic disorder of sex development +  
Genetic obesity +  
Genetic polyendocrinopathy +  
Gingival fibromatosis - progressive deafness 
Hearing loss - familial salivary gland insensitivity to aldosterone 
Hirschsprung disease - deafness - polydactyly 
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency 
Hypocalcemic vitamin D-dependent rickets 
Hypocalcemic vitamin D-resistant rickets 
Hypoparathyroidism - deafness - renal disease 
Joubert syndrome with orofaciodigital defect 
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome 
Leprechaunism 
Lessel-Kubisch syndrome 
Lethal ataxia with deafness and optic atrophy 
Lipodystrophy - intellectual disability - deafness 
Lipodystrophy - intellectual disability - deafness is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.
Maxillonasal dysplasia 
MEGDEL syndrome 
MELAS 
Metaphyseal dysostosis - intellectual disability - conductive deafness 
Microcephaly - deafness - intellectual disability 
Mitochondrial myopathy - lactic acidosis - deafness 
Mohr-Tranebjaerg syndrome 
Myoclonus - cerebellar ataxia - deafness 
Nephropathy-deafness-hyperparathyroidism syndrome 
Nephrosis - deafness - urinary tract - digital malformations 
Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome 
Neurologic Waardenburg-Shah syndrome 
Neutropenia - monocytopenia - deafness 
Non-acquired premature ovarian failure +  
Ogden syndrome 
Olivopontocerebellar atrophy - deafness 
Orofaciodigital syndrome type 1 
Orofaciodigital syndrome type 2 
Orofaciodigital syndrome type 3 
Orofaciodigital syndrome type 4 
Orofaciodigital syndrome type 8 
Ossification anomalies - psychomotor development delay 
Osteochondrodysplatic nanism - deafness - retinitis pigmentosa 
Phocomelia - ectrodactyly - deafness - sinus arrhythmia 
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract 
Premature aging appearance-developmental delay-cardiac arrhythmia syndrome 
progeria +  
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy 
Progéria - short stature - pigmented nevi 
Rare disorder with hypergonadotropic hypogonadism +  
Rare dyslipidemia +   
Rare genetic adrenal disease +   
Rare genetic diabetes mellitus +  
Rare genetic hypothalamic or pituitary disease +  
Rare genetic parathyroid disease and phosphocalcic metabolism disorder +  
Rare genetic thyroid disease +   
Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism 
Sensorineural hearing loss - early graying - essential tremor 
Short stature - deafness - neutrophil dysfunction - dysmorphism 
Spastic paraparesis - deafness 
Spastic paraplegia - nephritis - deafness 
Split hand - split foot - deafness 
Stickler syndrome type 3 
Thickened earlobes - conductive deafness 
Werner syndrome 
X-linked Charcot-Marie-Tooth disease +  
X-linked hypophosphatemia 
Xeroderma pigmentosum complementation group A 
Xeroderma pigmentosum complementation group B 
Xeroderma pigmentosum complementation group C 
Xeroderma pigmentosum complementation group D 
Xeroderma pigmentosum complementation group E 
Xeroderma pigmentosum complementation group F 
Xeroderma pigmentosum complementation group G 
Xeroderma pigmentosum variant 

Synonyms
Exact Synonyms: Rajab-Spranger syndrome
Xrefs: ICD10:Q78.8 ;   MIM:608154

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