Parent Terms |
Term With Siblings |
Child Terms |
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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
brain small vessel disease 1
Branchiogenic-Deafness 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
Davenport Donlan Syndrome
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
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
Hereditary Central Nervous System Demyelinating Diseases +
Hereditary Diffuse Leukoencephalopathy with Spheroids 2
hereditary spastic paraplegia 24
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
Keratitis-Ichthyosis-Deafness Syndrome +
Konigsmark Knox Hussels 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, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS This disease is an autosomal recessive complex neurodegenerative disorder with onset of symptoms in infancy or early childhood. Affected individuals show episodic regression with progressive motor deterioration resulting in spastic tetraplegia and loss of ambulation, as well as impaired intellectual development with poor or absent speech. Brain imaging shows deep white matter abnormalities consistent with a progressive leukoencephalopathy. Laboratory studies show increased serum lactate and deficiencies of mitochondrial respiratory chain complexes, consistent with global mitochondrial dysfunction.
Lynch Lee Murday syndrome
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome
Meyenburg-Altherr-Uehlinger Syndrome
Microcephaly Deafness Syndrome
multiple synostoses syndrome 1
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders
Myoclonus, Cerebellar Ataxia, and Deafness
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
Oculopharyngeal Myopathy with Leukoencephalopathy 1
Opticocochleodentate Degeneration
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
RNASET2-deficient cystic leukoencephalopathy
Schimke X-Linked Mental Retardation Syndrome
Schlegelberger Grote Syndrome
Secretory Diarrhea, Myopathy, and Deafness
Sinoatrial Node Dysfunction and Deafness
spastic paraplegia with deafness
Telencephalic Leukoencephalopathy
temtamy preaxial brachydactyly 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
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Synonyms |
Exact Synonyms: |
LEPID
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Narrow Synonyms: |
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS
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Primary IDs: |
OMIM:619147
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Definition Sources: |
OMIM:619147 |
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