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Autosomal recessive nonsyndromic hearing loss 124(DFNB124)

MedGen UID:: 1861039
•Concept ID:: C5935612
•: Disease or Syndrome

Synonym:	DEAFNESS, AUTOSOMAL RECESSIVE 124

Gene (location): Gene(s) directly associated with this condition or phenotype.	PKHD1L1 (8q23.1-23.2)

Monarch Initiative:	MONDO:0968981
OMIM®:	620794

Definition

Autosomal recessive deafness-124 (DFNB124) is characterized by congenital nonsyndromic progressive sensorineural hearing loss (Redfield et al., 2024). [from OMIM]

Clinical features

From HPO

Abnormality of the cardiovascular system

MedGen UID:: 116727
•Concept ID:: C0243050
•: Congenital Abnormality

Any abnormality of the cardiovascular system.

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Sensorineural hearing loss disorder

MedGen UID:: 9164
•Concept ID:: C0018784
•: Disease or Syndrome

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

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Abnormal vestibular function

MedGen UID:: 334848
•Concept ID:: C1843865
•: Finding

An abnormality of the functioning of the vestibular apparatus.

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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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Abnormality of the eye

MedGen UID:: 1370071
•Concept ID:: C4316870
•: Anatomical Abnormality

Any abnormality of the eye, including location, spacing, and intraocular abnormalities.

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Abnormality of the cardiovascular system
- Abnormality of the cardiovascular system
Abnormality of the eye
- Abnormality of the eye
Abnormality of the nervous system
- Intellectual disability
Ear malformation
- Abnormal vestibular function
- Sensorineural hearing loss disorder

Recent clinical studies

Etiology

Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.

Riza AL, Alkhzouz C, Farcaș M, Pîrvu A, Miclea D, Mihuț G, Pleșea RM, Ștefan D, Drodar M, Lazăr C, On Behalf Of The Hint Study, On Behalf Of The Fuse Study, Ioana M, Popp R
Genes (Basel) 2022 Dec 26;14(1) doi: 10.3390/genes14010069. PMID: 36672810 Free PMC Article

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Diagnosis

Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.

See all (1)

MedGen

National Center for Biotechnology Information

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Autosomal recessive nonsyndromic hearing loss 124(DFNB124)

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Supplemental Content

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Clinical resources

Molecular resources

Consumer resources

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