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Deafness, congenital, with total albinism

MedGen UID:: 387799
•Concept ID:: C1857343
•: Disease or Syndrome

Synonym:	Deafness, Congenital, with Total Albinism

Monarch Initiative:	MONDO:0009081
OMIM®:	220900

Clinical features

From HPO

Hearing impairment

MedGen UID:: 235586
•Concept ID:: C1384666
•: Disease or Syndrome

A decreased magnitude of the sensory perception of sound.

See: Feature record | Search on this feature

Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

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Albinism

MedGen UID:: 182
•Concept ID:: C0001916
•: Disease or Syndrome

An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).

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Hypogonadism

MedGen UID:: 5711
•Concept ID:: C0020619
•: Disease or Syndrome

A decreased functionality of the gonad.

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Abnormality of the endocrine system
- Hypogonadism
Abnormality of the integument
- Albinism
Abnormality of the nervous system
- Intellectual disability
Ear malformation
- Hearing impairment

Recent clinical studies

Etiology

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism.

Gironi LC, Colombo E, Brusco A, Grosso E, Naretto VG, Guala A, Di Gregorio E, Zonta A, Zottarelli F, Pasini B, Savoia P
Medicina (Kaunas) 2019 Jul 7;55(7) doi: 10.3390/medicina55070345. PMID: 31284637 Free PMC Article

See all (1)

Diagnosis

Hereditary Hearing Impairment with Cutaneous Abnormalities.

Lee TL, Lin PH, Chen PL, Hong JB, Wu CC
Genes (Basel) 2020 Dec 30;12(1) doi: 10.3390/genes12010043. PMID: 33396879 Free PMC Article

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism.

See all (2)

Clinical prediction guides

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.

Léger S, Balguerie X, Goldenberg A, Drouin-Garraud V, Cabot A, Amstutz-Montadert I, Young P, Joly P, Bodereau V, Holder-Espinasse M, Jamieson RV, Krause A, Chen H, Baumann C, Nunes L, Dollfus H, Goossens M, Pingault V
Eur J Hum Genet 2012 May;20(5):584-7. Epub 2012 Jan 18 doi: 10.1038/ejhg.2011.234. PMID: 22258527 Free PMC Article

Response of the primary auditory cortex to electrical stimulation of the auditory nerve in the congenitally deaf white cat.

Hartmann R, Shepherd RK, Heid S, Klinke R
Hear Res 1997 Oct;112(1-2):115-33. doi: 10.1016/s0378-5955(97)00114-7. PMID: 9367234

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Deafness, congenital, with total albinism

Clinical features

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

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Clinical resources

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