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Ontology Browser

Term:
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY (DOID:9004489)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
Deafness +     
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
Absence of Tibia with Congenital Deafness 
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate  
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
Adult-Onset Muscular Dystrophy with Leukoencephalopathy  
Albinism Deafness Syndrome 
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 
autosomal dominant congenital deafness with onychodystrophy  
autosomal dominant nonsyndromic deafness 65  
Ayazi Syndrome 
brain small vessel disease 1  
Branchiogenic-Deafness Syndrome 
Burn-McKeown syndrome  
Cardioauditory Syndrome of Sanchez Cascos 
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
combined oxidative phosphorylation deficiency 12  
Congenital Deafness and Familial Myoclonic Epilepsy 
Congenital Deafness, with Vitiligo and Achalasia 
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
Congenital Myopathy with Neuropathy and Deafness  
Coxoauricular Syndrome 
Davenport Donlan Syndrome 
Deaf-Blind Disorders +   
Deafness Hyperuricemia Neurologic Ataxia 
Deafness with Anhidrotic Ectodermal Dysplasia 
Deafness, Autosomal Dominant, due to Mutation In Myo1a 
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Onychodystrophy, Recessive Form 
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY  
An autosomal recessive complex neurodegenerative disorder characterized by congenital neurosensory deafness followed by onset of neurodegenerative symptoms, including pyramidal signs and cognitive decline, in young adulthood. Brain imaging shows diffuse white matter abnormalities affecting various brain regions, consistent with a progressive leukoencephalopathy.
Deafness, with Smith-Magenis Syndrome  
Demyelinating Autoimmune Diseases, CNS +   
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy +   
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
Fine-Lubinsky Syndrome  
Fountain Syndrome 
Hereditary Central Nervous System Demyelinating Diseases +   
Hereditary Diffuse Leukoencephalopathy with Spheroids 2  
hereditary spastic paraplegia 24 
Herrmann Syndrome 
high myopia-sensorineural deafness syndrome  
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Hyperlipoproteinemia Type II, and Deafness 
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 
Hypokalemic Tubulopathy and Deafness  
hypomyelinating leukoencephalopathy 
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
inclusion body myopathy and brain white matter abnormalities  
INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME  
ITM2B-related cerebral amyloid angiopathy 2  
Johnson Neuroectodermal Syndrome 
Jones Syndrome 
Keipert syndrome  
Keratitis-Ichthyosis-Deafness Syndrome +   
Konigsmark Knox Hussels Syndrome 
Labrune Syndrome  
Leukoencephalopathy with Ataxia  
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Leukoencephalopathy with Dystonia and Motor Neuropathy  
leukoencephalopathy with vanishing white matter +   
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome  
LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED  
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS  
Lynch Lee Murday syndrome 
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
Meyenburg-Altherr-Uehlinger Syndrome 
Microcephaly Deafness Syndrome 
Muckle-Wells syndrome  
multiple synostoses syndrome 1  
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 
Myoclonus, Cerebellar Ataxia, and Deafness 
Nathalie Syndrome 
Nephrosis with Deafness and Urinary Tract and Digital Malformations 
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter  
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities  
Noninsulin-Dependent Diabetes Mellitus with Deafness  
nonsyndromic deafness +   
Oculopharyngeal Myopathy with Leukoencephalopathy 1  
Opticocochleodentate Degeneration 
Perrault syndrome +   
Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant  
Posterior Leukoencephalopathy Syndrome  
progressive leukoencephalopathy with ovarian failure  
progressive multifocal leukoencephalopathy  
Ramos Arroyo Clark Syndrome 
Ribbonlike Corneal Degeneration with Deafness 
Ribose 5-Phosphate Isomerase Deficiency  
Richards-Rundle Syndrome 
RNASET2-deficient cystic leukoencephalopathy  
Schimke X-Linked Mental Retardation Syndrome 
Schlegelberger Grote Syndrome 
Secretory Diarrhea, Myopathy, and Deafness 
Siddiqi syndrome  
Sinoatrial Node Dysfunction and Deafness  
spastic ataxia 3  
spastic paraplegia with deafness 
Telencephalic Leukoencephalopathy 
temtamy preaxial brachydactyly syndrome  
Tietz syndrome  
vascular dementia +   
Wright Dyck Syndrome 
X-linked Alport syndrome  
X-linked mental retardation Gustavson type  
X-linked mental retardation-hypotonic facies syndrome-1  
X-linked retinitis pigmentosa and sinorespiratory infections  
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy  
Yemenite Deaf-Blind Hypopigmentation Syndrome 

Synonyms
Exact Synonyms: DEAPLE ;   congenital deafness and adult-onset progressive leukoencephalopathy
Primary IDs: MIM:619196
Definition Sources: MIM:619196

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