Gene Summary

Name:
transmembrane channel-like gene family 1
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating triglyceride level Tmc1Bth HET Early adult 9.21×10-06

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Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images

View all 258 images

Human diseases caused by Tmc1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Tmc1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705

The table below shows human diseases predicted to be associated to Tmc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Dominant 73
Hearing impairment OMIM:617663
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Dominant 65
Progressive hearing impairment OMIM:616044
Deafness, Autosomal Recessive 89
Hearing impairment OMIM:613916
Deafness, Autosomal Recessive 112
Progressive hearing impairment OMIM:618257
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Deafness, Autosomal Dominant 74
Hearing impairment OMIM:618140
Deafness, Autosomal Recessive 74
Hearing impairment OMIM:613718
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Recessive 70
Hearing impairment OMIM:614934
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Deafness, Autosomal Recessive 18B
Hearing impairment OMIM:614945
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 4B
Hearing impairment OMIM:614614
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Dominant 56
Hearing impairment OMIM:615629
Deafness, Autosomal Recessive 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 88
Hearing impairment OMIM:615429
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Recessive 84B
Hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 1B
Hearing impairment, Vestibular dysfunction OMIM:612645
Deafness, Autosomal Recessive 84A
Hearing impairment, Vestibular dysfunction OMIM:613391
Vertigo, Benign Recurrent
Vertigo, Gait imbalance OMIM:193007
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Hearing impairment, Sensorineural hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hearing impairment OMIM:615266
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, X-Linked 4
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Usher Syndrome, Type Id
Hearing impairment, Vestibular dysfunction OMIM:601067
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Facial Paresis, Hereditary Congenital, 2
Hearing impairment OMIM:604185
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Keratoderma, Palmoplantar, With Deafness
Hearing impairment OMIM:148350
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Deafness, Autosomal Recessive 94
Vestibular dysfunction, Bilateral sensorineural hearing impairment OMIM:618434
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Recessive 77
Bilateral sensorineural hearing impairment OMIM:613079
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 12
Prelingual sensorineural hearing impairment OMIM:601386
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 111
Progressive sensorineural hearing impairment OMIM:618145
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Dominant 20
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:604717
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 3
Profound sensorineural hearing impairment OMIM:600316
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 40
Prelingual sensorineural hearing impairment OMIM:608264
Deafness, Autosomal Recessive 39
Prelingual sensorineural hearing impairment OMIM:608265
Deafness, Autosomal Dominant 4A
Progressive sensorineural hearing impairment OMIM:600652
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Recessive 71
Prelingual sensorineural hearing impairment OMIM:612789
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 45
Prelingual sensorineural hearing impairment OMIM:612433
Deafness, Autosomal Dominant 5
Progressive sensorineural hearing impairment OMIM:600994
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 62
Prelingual sensorineural hearing impairment OMIM:610143
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Deafness, Autosomal Recessive 101
Bilateral sensorineural hearing impairment OMIM:615837
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 78
Profound sensorineural hearing impairment OMIM:619081
Deafness, Autosomal Dominant 79
Progressive sensorineural hearing impairment OMIM:619086
Deafness, Autosomal Recessive 49
Prelingual sensorineural hearing impairment OMIM:610153
Deafness, Autosomal Recessive 44
Prelingual sensorineural hearing impairment OMIM:610154
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 38
Prelingual sensorineural hearing impairment OMIM:608219
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Dominant 6
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Recessive 24
Profound sensorineural hearing impairment OMIM:611022
Deafness, Autosomal Recessive 83
Prelingual sensorineural hearing impairment OMIM:613685
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment OMIM:608565
Deafness, Autosomal Recessive 46
Profound sensorineural hearing impairment OMIM:609647
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Mental Retardation, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 70
Progressive sensorineural hearing impairment OMIM:616968
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, Autosomal Recessive 76
Progressive sensorineural hearing impairment OMIM:615540
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Recessive 63
Congenital sensorineural hearing impairment OMIM:611451
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment OMIM:616515
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment OMIM:618915
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Recessive 28
Severe sensorineural hearing impairment OMIM:609823
Deafness, Autosomal Recessive 85
Prelingual sensorineural hearing impairment OMIM:613392
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Deafness, Autosomal Recessive 2
Vertigo, Sensorineural hearing impairment, Vestibular dysfunction OMIM:600060
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Cochleosaccular Degeneration With Progressive Cataracts
Hearing impairment OMIM:120040
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Pendred Syndrome
Cochlear malformation, Vestibular dysfunction, Congenital sensorineural hearing impairment OMIM:274600
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Low-frequency hearing loss, Sensorineural hearing impairment, Progressive hearing impairment OMIM:124900
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Cochlear degeneration OMIM:172500
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Meniere Disease
Hearing impairment, Vertigo, Tinnitus OMIM:156000
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Hearing impairment, Tinnitus OMIM:608224
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... OMIM:602588
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101
Deafness, Autosomal Dominant 58
Hearing impairment, Tinnitus OMIM:615654
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Usher Syndrome Type 1
Subcortical cerebral atrophy, Cerebral cortical atrophy, Sensorineural hearing impairment, Abnorm... ORPHA:231169
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Non-Syndromic Genetic Deafness
Progressive sensorineural hearing impairment, High-frequency hearing impairment, Low-frequency se... ORPHA:87884
Myoclonus, Cerebellar Ataxia, And Deafness
Hearing impairment, Ataxia OMIM:159800
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231183
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Abnormal circulating lipid concentration OMIM:615238
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Hearing impairment, Optic atrophy, Cochlear degeneration, Spinocerebellar atrophy ORPHA:95433
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Hearing impairment, Unsteady gait, Abnormal speech discrimination, ... OMIM:300614
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Sinoatrial Node Dysfunction And Deafness
Hearing impairment OMIM:614896
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Deafness, Autosomal Dominant 16
Adult onset sensorineural hearing impairment, Tinnitus OMIM:603964
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... OMIM:615703
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:607616
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Mohr-Tranebjaerg Syndrome
Vestibular dysfunction, Global brain atrophy, Caudate atrophy, Absent brainstem auditory response... ORPHA:52368
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Fraxe Intellectual Disability
Recurrent hand flapping, Clumsiness, Prominent ear helix, Stereotypical body rocking ORPHA:100973
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, At... ORPHA:107
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
High-frequency hearing impairment, Tinnitus, Bilateral sensorineural hearing impairment OMIM:605594
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Enlarged vestibular aqueduct, Sensorineural hearing impairmen... ORPHA:705
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Progressive hearing impairment, Tinnitus OMIM:193005
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements, Macrotia ORPHA:397933
Mental Retardation, Autosomal Recessive 39
Anteverted ears, Stereotypy, Macrotia OMIM:615541
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Vertigo, Ataxia ORPHA:71518
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears, Stereotypy OMIM:609425
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Bart-Pumphrey Syndrome
Hearing impairment OMIM:149200
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia OMIM:610717
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Deafness, Autosomal Recessive 103
Vestibular areflexia, Sensorineural hearing impairment, Vestibular dysfunction OMIM:616042
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment OMIM:609006
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Overfolded helix, Hypertonia, Ataxia, Low-set ears, Myoclonus, Stereotypy, L... OMIM:619092
Episodic Ataxia Type 4
Vertigo, Incoordination, Ataxia, Abnormal head movements, Frequent falls ORPHA:79136
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Jerky head mov... ORPHA:251282
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased... OMIM:618620
Primary Dystonia, Dyt13 Type
Postural tremor, Action tremor, Torticollis, Jerky head movements, Stereotypy, Involuntary movements ORPHA:98807
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia OMIM:603471
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Spastic diplegia, Stereotypy OMIM:617830
Warsaw Breakage Syndrome
Hypoplasia of the cochlea, Cupped ear, Hearing impairment OMIM:613398
Tibia, Absence Of, With Congenital Deafness
Hearing impairment OMIM:275230
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Eye poking OMIM:204000
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Pontocerebellar Hypoplasia, Type 11
Macrotia, Limb ataxia, Poor coordination, Ataxia, Stereotypy, Spasticity OMIM:617695
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Xq21 Microdeletion Syndrome
Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Bilateral sens... ORPHA:1435
Lcat Deficiency
Hypertriglyceridemia ORPHA:650
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Conductive hearing impairment, Cupped ear, Stenosis of the external au... OMIM:113650
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Intellectual Developmental Disorder, X-Linked 72
Stereotypy OMIM:300271
Fragile X Syndrome
Abnormal head movements, Macrotia OMIM:300624
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Intellectual Developmental Disorder With Autism And Speech Delay
Stereotypy OMIM:606053
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairm... OMIM:201050
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
Stereotypy OMIM:300495
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Autism
Stereotypy OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Hypertonia, Morphological abnormality of the vestibule of t... OMIM:611584
Mental Retardation, Autosomal Dominant 48
Low-set ears, Sensorineural hearing impairment, Abnormality of the pinna, Stereotypy OMIM:617751
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:79085
Mental Retardation, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia, Stereotypy OMIM:617270
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Anteverted ears, Macrotia, Poor coordination, Ataxia, Recurrent hand flapping ORPHA:544254
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Low-set ears, Tremor, Stereotypy, Spasticity OMIM:618718
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Stereotypy, Ataxia OMIM:618709
Glycerol Kinase Deficiency
Hypertriglyceridemia OMIM:307030
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Stereotypy, Spasticity OMIM:617393
Mental Retardation, Autosomal Dominant 7
Thickened helices, Incoordination, Macrotia, Abnormality of the pinna, Ataxia, Stereotypy, Stereo... OMIM:614104
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertonia, Low-set ears, Stereotypy, Repetitive compulsive behavior, Cerebral palsy, Spasticity ORPHA:352490
Baker-Gordon Syndrome
Hyperkinetic movements, Ataxia, Stereotypy, Involuntary movements, Choreoathetosis OMIM:618218
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia OMIM:617885
Intellectual Developmental Disorder, Autosomal Recessive 71
Stereotypy, Macrotia OMIM:618504
Xq28 (MECP2) duplication
Progressive spasticity, Gait ataxia, Stereotypy, Macrotia DECIPHER:45
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Chorea, Slurred speech, Poor fine motor coordination, Br... ORPHA:157941
Christianson Syndrome
Gait ataxia, Truncal ataxia, Stereotypy, Macrotia ORPHA:85278
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Smith-Magenis syndrome
Stereotypy DECIPHER:8
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Recurrent hand flapping, Macrotia OMIM:617268
Intellectual Developmental Disorder, X-Linked 98
Stereotypy, Spasticity, Ataxia, Macrotia OMIM:300912
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Spastic paraparesis, Long-segment aganglionic megacolon, At... OMIM:609136
Deafness, Unilateral
Unilateral deafness OMIM:125000
N-Acetylaspartate Deficiency
Truncal ataxia, Stereotypy OMIM:614063
Snijders Blok-Campeau Syndrome
Low-set ears, Stereotypy, Speech apraxia OMIM:618205
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hypercholesterolemia, Lactescent serum, Hyperlip... OMIM:238600
4Q21 Microdeletion Syndrome
Low-set ears, Hearing impairment, Tremor, Stereotypy ORPHA:238750
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Gait ataxia, Abnormality of the pinna, Stereotypy, Optic atrophy, Spasticity OMIM:617807
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Macrotia, Upper limb spasticity, Hyperkinetic movements, Stereotypy ORPHA:457240
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration OMIM:604367
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Stereotypy, Myoclonus, Prominent ear helix, Large earlobe ORPHA:411986
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Stereotypy OMIM:619150
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:435651
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Smith-Magenis Syndrome
Stereotypy, Hearing impairment, Morphological abnormality of the middle ear, Abnormality of the o... OMIM:182290
Coffin-Siris Syndrome 6
Conductive hearing impairment, Low-set, posteriorly rotated ears, Stereotypy, Tics OMIM:617808
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Distal Monosomy 10Q
Cochlear malformation, Abnormality of the outer ear, Morphological abnormality of the vestibule o... ORPHA:96148
Optic Atrophy-Intellectual Disability Syndrome
Hearing impairment, Protruding ear, Abnormality of the helix, Optic nerve hypoplasia, Repetitive ... ORPHA:401777
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoalbuminemi... ORPHA:247585
Lipe-Related Familial Partial Lipodystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hyperlipidemia ORPHA:435660
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Brain atrophy, Cerebellar atrophy, Abnormal auditory evoked potentials, Sensori... OMIM:619260
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Hydroxykynureninuria
Stereotypy, Hypertonia, Congenital sensorineural hearing impairment ORPHA:79155
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration ORPHA:209902
Mental Retardation, Autosomal Dominant 34
Hearing impairment, Stereotypy OMIM:616351
Hyperprolinemia, Type I
Stereotypy, Ataxia OMIM:239500
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... OMIM:278000
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Prominent antihelix, Stereotypy OMIM:618825
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Mental Retardation, Autosomal Dominant 40
Low-set ears, Gait ataxia, Stereotypy OMIM:616579
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Diffuse cerebral atrophy ORPHA:3240
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia ORPHA:364
Huntington Disease-Like 3
Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progressive gait ... ORPHA:157946
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent otitis media, Congenital sensorineural hearing impairment, Sensorineural hearing impair... ORPHA:500159
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Stereotypy, Macrotia ORPHA:391307
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... ORPHA:412
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Mental Retardation With Language Impairment And With Or Without Autistic Features
Stereotypy, Speech apraxia OMIM:613670
Ogden Syndrome
Macrotia, Hypertonia, Low-set ears, Torticollis, Abnormal head movements ORPHA:276432
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Stereotypy, Progressive spastic paraplegia, Spastic dysarthria, Spasticity ORPHA:280763
Foxg1 Syndrome
Hyperkinetic movements, Myoclonus, Stereotypy, Stereotypical hand wringing, Choreoathetosis, Spas... ORPHA:561854
Cri-Du-Chat Syndrome
Hypertonia, Abnormality of the pinna, Low-set ears, Hearing impairment, Stenosis of the external ... OMIM:123450
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia OMIM:615381
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:98855
Mental Retardation, Autosomal Recessive 41
Stereotypy OMIM:615637
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormality of the antihelix, Protruding ear, Stereotypy ORPHA:261144
22Q11.2 Duplication Syndrome
Anterior creases of earlobe, Hearing impairment, Stereotypy ORPHA:1727
X-Linked Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:98853
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Developmental And Epileptic Encephalopathy 6B
Chorea, Hyperkinetic movements, Ataxia, Myoclonus, Stereotypy, Choreoathetosis OMIM:619317
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Apert Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Morphological abnormality of the... ORPHA:87
Potocki-Lupski Syndrome
Hearing impairment, Stereotypy OMIM:610883
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Stereotypy ORPHA:3306
Alazami Syndrome
Low-set ears, Stereotypical hand wringing, Stereotypy ORPHA:319671
Autosomal Recessive Non-Syndromic Intellectual Disability
Chorea, Stereotypy, Spasticity ORPHA:88616
Guanidinoacetate Methyltransferase Deficiency
Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor function, Chore... ORPHA:382
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cupped ear, Hypertonia, Cerebral palsy, Stereotypy OMIM:618914
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Conductive hearing impairment, Paroxysmal dyskinesia, Sensorineural hearing impai... ORPHA:261197
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials, Cerebellar atrophy OMIM:193700
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Gait ataxia, Chorea, Stereotypy, Stereotypical hand wringing, Spasticity OMIM:618917
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Radio-Tartaglia Syndrome
Tremor, Conductive hearing impairment, Ataxia, Low-set ears, Hearing impairment, Stereotypy, Larg... OMIM:619312
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Stereotypy, Spasticity OMIM:612069
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements, Choreoathetosis, Oculomotor apraxia, Ataxia OMIM:245348
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Atrophy of the spinal cord, Abnormal auto... ORPHA:99027
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Macrotia, Chorea, Ataxia, Low-set ears, Lower limb spasticity, Stereotypy, Progressive spasticity... OMIM:300260
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Spastic diplegia, Oculomotor apraxia, Abnormal autonomic nervous system physiolog... ORPHA:300570
48,Xxyy Syndrome
Stereotypy, Tremor, Chronic otitis media, Ataxia ORPHA:10
Charcot-Marie-Tooth Disease Type 1F
Cervical spinal cord atrophy, Absent brainstem auditory responses, Sensorineural hearing impairme... ORPHA:101085
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Rigidity, Myoclonus, Stereotypy OMIM:600795
Megalocornea-Intellectual Disability Syndrome
Stereotypy, Sensorineural hearing impairment, Ataxia, Protruding ear ORPHA:2479
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Hyperlipidemia OMIM:232400
Rett Syndrome, Congenital Variant
Apraxia, Chorea, Protruding ear, Tongue thrusting, Stereotypy, Athetosis, Spasticity OMIM:613454
Macrocephaly-Developmental Delay Syndrome
Stereotypy, Abnormal speech discrimination ORPHA:397612
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Cerebral Creatine Deficiency Syndrome 1
Aganglionic megacolon, Poor hand-eye coordination, Stereotypy, Underfolded superior helices, Spas... OMIM:300352
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebe... ORPHA:247815
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Poor motor coordination, Poor fine motor coordination, Parkinsonism, Stereotypy, Myoc... ORPHA:79264
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Macrotia, Ataxia, Stereotypy, Fasciculations, Tetraplegia, Progressive spasticity, Optic atrophy,... ORPHA:496641
Alstrom Syndrome
Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration OMIM:203800
Ocular Motor Apraxia
Jerky head movements, Oculomotor apraxia OMIM:257550
Chromosome 5P13 Duplication Syndrome
Low-set ears, Stereotypy OMIM:613174
Behavioral Variant Of Frontotemporal Dementia
Fasciculations, Upper motor neuron dysfunction, Stereotypy, Abnormality of extrapyramidal motor f... ORPHA:275864
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Recurrent otitis media, Recurrent hand flapping, Stereotypy, Macrotia ORPHA:449291
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Hearing impairment, Optic atrophy, Decreased nerv... ORPHA:206436
3P25.3 Microdeletion Syndrome
Stereotypy, Sensorineural hearing impairment, Ataxia, Abnormality of the outer ear ORPHA:435638
Kleefstra Syndrome 1
Hearing impairment, Abnormality of the pinna, Stereotypy OMIM:610253
Dilated Cardiomyopathy With Ataxia
Action tremor, Ataxia, Lower limb spasticity, Bilateral sensorineural hearing impairment, Repetit... ORPHA:66634
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:261476
Schinzel-Giedion Syndrome
Infantile sensorineural hearing impairment, Aganglionic megacolon, Abnormality of the stapes, Abn... ORPHA:798
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:370
Blepharophimosis-Impaired Intellectual Development Syndrome
Low-set ears, Posteriorly rotated ears, Stereotypy OMIM:619293
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hypertriglyceridemia, Hyperlipidemia ORPHA:444490
Obesity, Hyperphagia, And Developmental Delay
Stereotypy OMIM:613886
Helsmoortel-Van Der Aa Syndrome
Low-set, posteriorly rotated ears, Stereotypy OMIM:615873
Transketolase Deficiency
Hearing impairment, Stereotypy ORPHA:488618
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Hypertriglyceridemia OMIM:613327
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Congenital Disorder Of Glycosylation, Type Iia
Macrotia, Hypertonia, Posteriorly rotated ears, Sensorineural hearing impairment, Stereotypy OMIM:212066
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Prominent antihelix, Macrotia, Hypertonia, Stereotypy, Babinski sign, Spasticity OMIM:615802
Trisomy 10P
Low voltage EEG, Macrotia, EEG with burst suppression, Posteriorly rotated ears, Low-set ears, Ab... ORPHA:171929
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Paroxysmal dyskinesia, Spastic tetraplegia, Stereotypy, Spasticity ORPHA:208447
Pick Disease Of Brain
Stereotypy OMIM:172700
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration ORPHA:79086
Phelan-Mcdermid Syndrome
Macrotia, Hearing impairment, Protruding ear, Tongue thrusting, Stereotypy OMIM:606232
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98907
Kohlschutter-Tonz Syndrome-Like
Tremor, Upper limb spasticity, Ataxia, Posteriorly rotated ears, Lower limb spasticity, Myoclonus... OMIM:619229
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Hyperglyci... ORPHA:470
Cockayne Syndrome Type 1
Macrotia, Hearing impairment, Absent brainstem auditory responses, Abnormality of peripheral nerv... ORPHA:90321
Lamb-Shaffer Syndrome
Stereotypy, Optic atrophy, Ataxia, Upper motor neuron dysfunction ORPHA:530983
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration ORPHA:280365
Microtriplication 11Q24.1
Hyperlipidemia ORPHA:289522
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:151660
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypertonia, Low-set ears, Lower limb spasticity, Protruding ear, Stereotypy, Clonus, Myoclonic sp... ORPHA:447997
Norrie Disease
Macrotia, Cerebral cortical atrophy, Protruding ear, Sensorineural hearing impairment, Abnormalit... ORPHA:649
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia, Stereotypy ORPHA:228384
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia ORPHA:369
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia OMIM:617591
2Q37 Microdeletion Syndrome
Conductive hearing impairment, Stereotypy ORPHA:1001
White-Sutton Syndrome
Incoordination, Abnormality of the outer ear, Posteriorly rotated ears, Sensorineural hearing imp... ORPHA:468678
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Limb hypertonia, Sensorineural hearing impairment, Stereotypy, Spasticity ORPHA:457351
Autosomal Dominant Non-Syndromic Intellectual Disability
Chorea, Eyelid myoclonus, Stereotypy, Spasticity ORPHA:178469
Cerebrotendinous Xanthomatosis
Global brain atrophy, Abnormal motor evoked potentials, Cerebellar atrophy, Abnormal auditory evo... ORPHA:909
Meier-Gorlin Syndrome 1
Atresia of the external auditory canal, Low-set ears, Hearing impairment, Incomplete partition of... OMIM:224690
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Stereotypy ORPHA:85277
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
H Syndrome
Hypertriglyceridemia ORPHA:168569
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Noonan Syndrome
Low-set, posteriorly rotated ears, Thickened helices, Sensorineural hearing impairment, Aplasia o... ORPHA:648
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Thin ear helix, Low-set, posteriorly rotated ears, Hypertonia, Abnormal pyramidal sign, Hyperkine... ORPHA:468631
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Low-set ears, Stereotypy OMIM:619103
Kleefstra Syndrome
Hearing impairment, Thickened helices, Chronic otitis media, Stereotypy ORPHA:261494
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Hyponatremia, Steatorrhea, Hypertriglyceridemia, Hyperkalemia ORPHA:275761
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Ch├ędiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia, Hyponatremia ORPHA:167
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia ORPHA:536532
7Q11.23 Microduplication Syndrome
Large earlobe, Overfolded helix, Low-set, posteriorly rotated ears, Chronic otitis media, Abnorma... ORPHA:96121
Cockayne Syndrome A
Cerebral atrophy, Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural he... OMIM:216400
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Truncal ataxia, Spastic gait, Spastic tetraplegia, Dysmetria, Stereotypy, Babinski sign, Facial d... OMIM:619121
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Stereotypy OMIM:618906
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Stereotypy ORPHA:313892
Seckel Syndrome 10
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:617253
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Stereotypy, Paraplegia, Ataxia ORPHA:927
Cockayne Syndrome B
Cerebral atrophy, Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural he... OMIM:133540
Shukla-Vernon Syndrome
Stereotypy OMIM:301029
Ogden Syndrome
Low-set ears, Hypertonia, Stereotypy, Macrotia OMIM:300855
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia, Hyperlipidemia ORPHA:79259
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Low-set ears, Stereotypy, Ataxia ORPHA:457279
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Ataxia, Myoclonus, Stereotypy, Spasticity ORPHA:168491
Hypotonia, Ataxia, And Delayed Development Syndrome
Small earlobe, Gait ataxia, Truncal ataxia, Speech apraxia, Overfolded helix, Ataxia, Low-set ear... OMIM:617330
Short Stature, Developmental Delay, And Congenital Heart Defects
Stereotypy OMIM:617044
Methanol Poisoning
Hyperlipidemia ORPHA:31825
2Q23.1 Microdeletion Syndrome
Stereotypy, Ataxia ORPHA:228402
Charge Syndrome