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Gene: Tenm4 MGI:2447063

Gene Summary

Name:

teneurin transmembrane protein 4

Synonyms:

ELM2, Ten-m4, Doc4, Odz4, l(7)-3Rn, l7Rn3

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
decreased bone mineral density	Tenm4^em1(IMPC)Tcp	HOM	Late adult	1.71×10^-06
abnormal sternum morphology	Tenm4^em1(IMPC)Tcp	HOM	Late adult	0.00
increased circulating chloride level	Tenm4^em1(IMPC)Tcp	HOM	Late adult	6.24×10^-06
decreased thigmotaxis	Tenm4^em1(IMPC)Tcp	HOM	Early adult	5.43×10^-05
increased grip strength	Tenm4^em1(IMPC)Tcp	HOM	Late adult	1.01×10^-06
decreased grip strength	Tenm4^em1(IMPC)Tcp	HOM	Early adult	7.74×10^-08
decreased heart weight	Tenm4^em1(IMPC)Tcp	HOM	Late adult	4.45×10^-07
decreased spleen weight	Tenm4^em1(IMPC)Tcp	HOM	Late adult	9.18×10^-05
increased bone mineral content	Tenm4^em1(IMPC)Tcp	HOM	Late adult	8.20×10^-06
decreased lean body mass	Tenm4^em1(IMPC)Tcp	HOM	Late adult	8.54×10^-06
small adrenal glands	Tenm4^em1(IMPC)Tcp	HOM	Late adult	0.00
corneal opacity	Tenm4^em1(IMPC)Tcp	HOM	Late adult	9.65×10^-07
short tibia	Tenm4^em1(IMPC)Tcp	HOM	Early adult	9.05×10^-05
anophthalmia	Tenm4^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased total body fat amount	Tenm4^em1(IMPC)Tcp	HOM	Late adult	8.05×10^-05
enlarged urinary bladder	Tenm4^em1(IMPC)Tcp	HOM	Late adult	0.00
increased circulating sodium level	Tenm4^em1(IMPC)Tcp	HOM	Late adult	1.97×10^-06
decreased fasting circulating glucose level	Tenm4^em1(IMPC)Tcp	HOM	Early adult	3.98×10^-06

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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.

Eye Morphology

Images Ophthalmoscopy

97 Images

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Eye Morphology

Images Ophthalmoscopy

161 Images

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Histopathology

Images

24 Images

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Eye Morphology

Images Slit Lamp

114 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

16 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Histopathology

Images

2 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Tenm4 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.

Human diseases associated with Tenm4 (1 diseases)
Human diseases predicted to be associated with Tenm4 (1075 diseases)

The table below shows human diseases associated to Tenm4 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Tremor, Hereditary Essential, 5		Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736

The table below shows human diseases predicted to be associated to Tenm4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cervical Vertebral Dysplasia	Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis...	OMIM:118005
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel...	OMIM:607734
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Roussy-Levy Hereditary Areflexic Dystasia	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Upper limb postural...	OMIM:180800
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy	OMIM:311050
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Gliosis, Dystonia	OMIM:300857
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Pelizaeus-Merzbacher Disease	Generalized dystonia, Reduction of oligodendroglia, Ataxia, Cerebral dysmyelination, Writer's cra...	OMIM:312080
Autosomal Recessive Spastic Paraplegia Type 71	Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv...	ORPHA:401840
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Axonal loss, Abnormality of extr...	OMIM:617672
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel...	OMIM:614895
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy	DECIPHER:59
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Peroxisome Biogenesis Disorder 8B	Lower limb spasticity, Failure to thrive, Ataxia, Clonus, Rigidity, Babinski sign, Optic atrophy,...	OMIM:614877
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation, Spastic p...	OMIM:182815
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Leukodystr...	OMIM:614561
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination, Dystonia	OMIM:250850
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Babinski sign, Axonal loss, Gliosis, Myoclonus, Apraxia, Abnormal upper motor neuron morphology, ...	OMIM:221770
Neuropathy, Hereditary, With Liability To Pressure Palsies	Vocal cord paralysis, Segmental peripheral demyelination/remyelination	OMIM:162500
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Tetrapl...	OMIM:604484
Null Syndrome	Ataxia, Optic atrophy, CNS hypomyelination, Progressive spastic quadriplegia, Peripheral demyelin...	ORPHA:280234
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Babinski sign, Hand tremor, Frequent falls, Onion bulb formation, Peripheral demyelination	OMIM:618279
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of a...	ORPHA:93323
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration...	OMIM:620378
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Paraparetic Variant Of Guillain-Barré Syndrome	Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination	ORPHA:231445
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Spasticity	OMIM:611105
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased number of peripheral myelinated nerve fibers, Tremor, Babinski sign, Optic atrophy, Hyp...	OMIM:609260
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Neuromyelitis Optica Spectrum Disorder	Myelitis, Peripheral demyelination, Paraplegia	ORPHA:71211
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Onion bulb formation, Ataxia, Segmental peripheral demyelination/remyelination, Gait ataxia, Hype...	OMIM:601098
Vertebral Hypoplasia With Lumbar Kyphosis	Vertebral hypoplasia, Lumbar kyphosis	OMIM:192900
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Charcot-Marie-Tooth Disease, Type 4K	Axonal loss, Ataxia, Peripheral demyelination, Dystonia	OMIM:616684
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Acute demyelinating polyneuropathy, Onion bulb formation, Gait ataxia	ORPHA:98916
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Vocal cor...	OMIM:607706
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen...	OMIM:606483
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis	OMIM:105500
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Mucolipidosis Type Iii	Craniofacial hyperostosis, Inguinal hernia, Abnormal heart valve morphology, Corneal opacity, Joi...	ORPHA:577
Spinocerebellar Ataxia Type 43	Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Limb ...	ORPHA:497764
Charcot-Marie-Tooth Disease, Type 4A	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop...	OMIM:214400
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera...	OMIM:145900
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Winchester Syndrome	Corneal opacity, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, General...	OMIM:277950
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Weakness due to upper motor neuron dysfunction, Parkinsonism, Hemi...	ORPHA:217260
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Sandhoff Disease, Adult Form	Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dystonia, Spasticity, Sensory axonal neuropathy	ORPHA:309169
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Axonal ...	OMIM:605285
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Decreased number of peripheral myelinated nerve fibers, Slurred speech, Clumsiness, Hypertonia, T...	ORPHA:2386
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Spastic tetraparesis, Babinski sign, Gait ataxia, CNS demyelination, Peripheral demyelination	OMIM:249900
Subacute Inflammatory Demyelinating Polyneuropathy	Symmetric peripheral demyelination, Demyelinating motor neuropathy, Tremor, Choreoathetosis, Axon...	ORPHA:206594
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Axonal loss, Clusters of axonal regeneration, Chronic axonal neur...	ORPHA:101097
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Abnormal c...	ORPHA:2370
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased number of peripheral myelinated nerve fibers, Myelin outfoldings, Onion bulb formation,...	OMIM:118200
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals...	OMIM:118210
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Spastic Paraplegia 55, Autosomal Recessive	Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Spastic parapl...	OMIM:615035
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614495
Krabbe Disease	Optic atrophy, Hypertonia, Decerebrate rigidity, Progressive spasticity, CNS demyelination, Failu...	OMIM:245200
Slowed Nerve Conduction Velocity, Autosomal Dominant	Onion bulb formation, Peripheral demyelination	OMIM:608236
Webb-Dattani Syndrome	Neurogenic bladder, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulati...	OMIM:615926
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S...	OMIM:606777
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia	OMIM:617018
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera...	OMIM:118220
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614496
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe...	OMIM:601596
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Optic Atrophy 3, Autosomal Dominant	Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function	OMIM:165300
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polyuria, Megacystis, Hypernatremia, Failure to thrive, Diabetes insipidus	OMIM:304800
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polyuria, Nephrogenic diabetes insipidus, Megacystis, Hypernatremia, Failure to thrive	OMIM:125800
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy	OMIM:612437
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination	OMIM:607791
Spinocerebellar Ataxia, Autosomal Recessive 4	Peripheral axonal neuropathy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign...	OMIM:607317
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Porphyria, Acute Hepatic	Failure to thrive, Respiratory paralysis, Paralysis	OMIM:612740
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Onion bulb formation, Peripheral demyelination, Axonal regeneration	OMIM:615185
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Peripheral hypomyelination, Vocal cord paralysis	OMIM:616287
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Ataxia, Chorea, Axonal degeneration, Babinski sign, Peripheral hy...	OMIM:604168
Spinocerebellar Ataxia 38	Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Microphthalmia With Limb Anomalies	Anophthalmia, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, P...	OMIM:206920
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy...	ORPHA:71277
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Charcot-Marie-Tooth Disease, Type 4J	Axonal loss, Onion bulb formation, Peripheral hypomyelination, Frequent falls	OMIM:611228
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Hepatomegaly, Corneal opacity, Large for gestational age	ORPHA:2432
Monomelic Amyotrophy	Degeneration of anterior horn cells, Tremor, Fasciculations	ORPHA:65684
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Symmetric peripheral demyelination, Babinski sign, Pseudobulbar paralysis, Gliosis, Leuko...	OMIM:169500
Glucose-Galactose Malabsorption	Renal insufficiency, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, Hypernatremia, Failu...	ORPHA:35710
Parkinson Disease 2, Autosomal Recessive Juvenile	Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:600116
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Spinocerebellar tract degeneration, Leukodystro...	OMIM:617916
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Hyp...	OMIM:615751
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Onion bulb formation	OMIM:616039
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination	OMIM:311070
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology	OMIM:605253
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration	OMIM:607677
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Leukodystrophy, Hypomyelinating, 11	Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity, Failure to thrive	OMIM:616494
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Decreased number of peripheral myelinated nerve fibers, Axonal regeneration	OMIM:607731
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Spinocerebellar Ataxia Type 25	Decreased number of large peripheral myelinated nerve fibers, Babinski sign, Gait ataxia, Spastic...	ORPHA:101111
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de...	OMIM:608340
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy	OMIM:608673
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Micrognathia	OMIM:615524
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paralysis	OMIM:608634
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Nephrogenic diabetes insipidus, Functional abnormality of the b...	ORPHA:223
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Incoordin...	OMIM:302800
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Hippocampal sclerosis, Myoclonus	OMIM:615400
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Prolong...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Prolong...	ORPHA:529799
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Spinocerebellar Ataxia Type 20	Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Gait ataxia	ORPHA:217012
Charcot-Marie-Tooth Disease, Type 4H	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel...	OMIM:609311
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In...	OMIM:616053
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Ataxia	OMIM:615945
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Spastic paraparesis, ...	OMIM:614487
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Sensory axonal neu...	OMIM:607458
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Failure to thrive, Myoclonus, Dystonia	OMIM:619651
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,...	OMIM:105550
Posterior Column Ataxia With Retinitis Pigmentosa	Hyperintensity of MRI T2 signal of the spinal cord, Optic atrophy, Peripheral demyelination, Ataxia	OMIM:609033
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Chronic Inflammatory Demyelinating Polyneuropathy	Peripheral demyelination, Segmental peripheral demyelination/remyelination	ORPHA:2932
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis	ORPHA:2956
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Clumsiness, Focal...	ORPHA:216873
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal atrophy, Onion bulb for...	OMIM:605588
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Peripheral axonal neuropathy, Paralysis	OMIM:613710
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Peripheral demyelination, Axonal degeneration/regeneration	OMIM:607736
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Fascicu...	OMIM:600882
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Corneal opacity, Thrombocytopenia	ORPHA:1980
Neuroleptic Malignant Syndrome	Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen...	ORPHA:94093
Charcot-Marie-Tooth Disease, Type 4B2	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera...	OMIM:604563
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
L-2-Hydroxyglutaric Aciduria	Ataxia, Spastic tetraparesis, Severe demyelination of the white matter, Abnormal pyramidal sign, ...	OMIM:236792
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Multiple muscular ventricular septal defects, Hypoalbuminemia, Hypernatremia, Pulmonic stenosis, ...	OMIM:615508
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Abetalipoproteinemia	CNS demyelination, Ataxia, Peripheral demyelination	OMIM:200100
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Corneal opacity, Abnormality of the tonsils, Splen...	ORPHA:93476
Adult Krabbe Disease	Ataxia, Progressive spastic paraparesis, Hoffmann sign, Babinski sign, Clumsiness, Tetraparesis, ...	ORPHA:206448
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Babinski s...	OMIM:604360
Mucous Membrane Pemphigoid	Atypical scarring of skin, Corneal opacity	ORPHA:46486
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hepatomegaly, L...	ORPHA:3008
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona...	OMIM:617087
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Clonus, Abnormal spinal cord morphology, Babinski sign, Spastic paraplegia, Spasticity, Sensory a...	ORPHA:139578
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Developmental And Epileptic Encephalopathy 14	Delayed CNS myelination, Clonus, Tetraplegia, Gliosis, Spasticity	OMIM:614959
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Fasciculations	OMIM:182980
Mirage Syndrome	Hyponatremia, Hypergonadotropic hypogonadism, Rocker bottom foot, Adrenal hypoplasia, Hypospadias...	OMIM:617053
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor	OMIM:611808
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Decreased circulati...	OMIM:610600
Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Corneal opacity, Splenomegaly, Nephropathy, Flexion contracture, O...	ORPHA:87876
Alpha-Mannosidosis	Craniofacial hyperostosis, Bowing of the long bones, Cataract, Corneal opacity, Inguinal hernia, ...	ORPHA:61
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Camptodactyly of finger, Limitation of joint mobility, Lateral humeral condyle a...	ORPHA:2741
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Microphthalmia, Anophthalmia	OMIM:164180
Leukodystrophy, Hypomyelinating, 5	Truncal titubation, Babinski sign, Abnormal pyramidal sign, CNS hypomyelination, Leukodystrophy, ...	OMIM:610532
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Peripheral demyelination	ORPHA:99944
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Peripheral demyelination	OMIM:616733
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Crypt...	OMIM:614736
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldost...	OMIM:264350
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Renal insufficiency, Corneal opacity, Proteinuria, Congenital diaphragmatic hernia, S...	OMIM:166300
Metachromatic Leukodystrophy	Ataxia, Chorea, Babinski sign, Optic atrophy, Spastic tetraplegia, Tetraplegia, Dystonia, Periphe...	OMIM:250100
Neuropathy, Congenital Hypomyelinating, 2	Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Onion bulb formation	OMIM:618184
Giant Axonal Neuropathy 2, Autosomal Dominant	Peripheral axonal neuropathy, Onion bulb formation	OMIM:610100
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, CNS demyelination	OMIM:610245
Spinocerebellar Ataxia Type 26	Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa...	ORPHA:101112
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Frequent falls, Hemiballismus	ORPHA:494526
Stxbp1-Related Encephalopathy	Ataxia, Tremor, Delayed myelination, Spastic tetraplegia, Dystonia, Spasticity	ORPHA:599373
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Charcot-Marie-Tooth Disease Type 4G	Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy	ORPHA:99953
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Hypospadias, Cryptorchidism, Flexion contracture, Dilated cardiomyopathy, Develo...	OMIM:618815
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia, Polydactyly, Talipes equinovarus	OMIM:613885
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Peripheral axonal neuropathy, Ataxia	OMIM:619099
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Dilated cardiomyopathy, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypo...	OMIM:620152
Wolcott-Rallison Syndrome	Hyponatremia, Metaphyseal dysplasia, Hepatomegaly, Renal insufficiency, Neonatal insulin-dependen...	ORPHA:1667
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia	OMIM:618093
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar...	ORPHA:91354
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc...	OMIM:601678
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Postural tremor, Abnormal spinal cord morphology, Babinski sign, Vocal cord paralysis, Optic atro...	ORPHA:99947
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Short tibia, Humeroradial synostosis, Miss...	OMIM:251230
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Charcot-Marie-Tooth Disease, Type 4B1	Myelin outfoldings, Irregular myelin loops, Facial palsy	OMIM:601382
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thr...	OMIM:203400
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Ataxia, Obesity, Limb dystonia	OMIM:620270
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula...	OMIM:214700
Central Diabetes Insipidus	Hyponatremia, Weight loss, Failure to thrive, Diabetes insipidus, Nocturia	ORPHA:178029
Cystinosis	Renal insufficiency, Corneal opacity, Proteinuria, Portal hypertension, Nephrogenic diabetes insi...	ORPHA:213
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Adrenal hypoplasia, Adrenal insufficiency	OMIM:240200
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Adrenal hyperplasia, Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Increase...	OMIM:615830
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Corneal opacity, Isosexual precocious puberty, Met...	ORPHA:2788
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor...	ORPHA:98762
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni...	ORPHA:556037
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp...	ORPHA:171876
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Spinocerebellar Ataxia 17	Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia, Bradykines...	OMIM:607136
Huntington Disease	Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis	OMIM:143100
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity	OMIM:615924
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Gliosis, Spasticity	OMIM:213200
Galactosialidosis	Corneal opacity	ORPHA:351
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism...	ORPHA:314632
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Dystonia, Ataxia, Decreased number of large peripheral myelinated...	OMIM:208920
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia, Small for gestational age	OMIM:278780
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ...	ORPHA:199296
Congenital Rubella Syndrome	Hepatomegaly, Cataract, Ventricular septal defect, Corneal opacity, Thrombocytopenia, Splenomegal...	ORPHA:290
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c...	OMIM:177735
Anencephaly 2	Anophthalmia	OMIM:619452
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Tremor, Dysmetria, Gait a...	OMIM:618387
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Frequent falls, Onion bulb formation, Facial palsy	OMIM:607684
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoparathyroidism, Failure to thrive, Decreased circulating cortisol level, Normoc...	ORPHA:199299
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti...	OMIM:619381
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi...	ORPHA:521406
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni...	ORPHA:556030
Glutaric Acidemia I	Rigidity, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, Symmetrical progr...	OMIM:231670
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp...	ORPHA:251282
Amyotrophic Lateral Sclerosis 4, Juvenile	Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Pallor of dorsal columns ...	OMIM:602433
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomag...	OMIM:613845
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng...	OMIM:617284
Intellectual Developmental Disorder, X-Linked 104	Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Spasticity	OMIM:300983
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali...	OMIM:164500
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Peripheral axonal neuropathy, Substantia nigra gliosis, F...	ORPHA:276244
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Abnormal repetitive mannerisms	ORPHA:411986
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Osteopenia, Cataract, Congenital hip dislocation, Epiphyseal dysplasia,...	OMIM:617913
Hartsfield Syndrome	Syndactyly, Hypospadias, Craniosynostosis, Cryptorchidism, Gonadotropin deficiency, Ectrodactyly,...	OMIM:615465
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Leukodystrophy, Dystonia, Oculomotor ap...	OMIM:612438
Renal Hypoplasia, Bilateral	Hyponatremia, Small for gestational age, Proteinuria, Microscopic hematuria, Cryptorchidism, Chro...	ORPHA:97362
Alg8-Cdg	Hyponatremia, Cataract, Small for gestational age, Abnormality of subcutaneous fat tissue, Thromb...	ORPHA:79325
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B...	ORPHA:240103
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morphology, Aggressive beh...	ORPHA:208441
Myoclonic-Atonic Epilepsy	Tremor, Delayed CNS myelination, Ataxia, Eyelid myoclonus	OMIM:616421
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers	OMIM:607080
Lethal Congenital Contracture Syndrome 7	Facial diplegia, Paralysis	OMIM:616286
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Freq...	OMIM:159950
Gracile Bone Dysplasia	Failure to thrive, Asplenia, Flared metaphysis, Thin ribs, Micropenis, Slender long bone, Hypocal...	OMIM:602361
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia, Abnormal salivary gland morphology	ORPHA:3225
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Pheochromocytoma/Paraganglioma Syndrome 2	Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ...	OMIM:601650
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia	OMIM:607250
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr...	ORPHA:454887
Cystinosis, Nephropathic	Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hy...	OMIM:219800
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria	ORPHA:363710
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Tremor, Babinski sign, Spastic paraplegia, Abnormal CNS myelination, Failure to thrive	ORPHA:477673
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Parkinsonism, Rigidity, Bradykinesia, Gliosis, Apraxia, CNS demyelination, Spasticity	OMIM:221820
Autosomal Recessive Spastic Paraplegia Type 35	Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Babinski sign, Optic atrophy, ...	ORPHA:171629
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Ataxia, Involuntary movements, Decreased number of large peripheral myelinated nerve fibers, Babi...	OMIM:271245
Legionnaires Disease	Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Jaundice...	ORPHA:549
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	ORPHA:361
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis	ORPHA:1436
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoglycemia, Hypoplasia of the radius, Short...	OMIM:607143
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Increas...	ORPHA:90791
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Mietens Syndrome	Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Joint stiffness, Metatarsus addu...	ORPHA:2557
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Ataxia, Decreased number of large peripheral myelinat...	OMIM:270550
Charcot-Marie-Tooth Disease Type 4A	Decreased number of large peripheral myelinated nerve fibers, Poor gross motor coordination, Poor...	ORPHA:99948
Charcot-Marie-Tooth Disease Type 2B1	Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel...	ORPHA:98856
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx...	OMIM:601559
Juvenile Nephropathic Cystinosis	Abnormal long bone morphology, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular...	ORPHA:411634
Charcot-Marie-Tooth Disease, Type 4D	Axonal loss, Frequent falls, Onion bulb formation, Segmental peripheral demyelination/remyelination	OMIM:601455
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Truncal ...	OMIM:219080
Hereditary Coproporphyria	Hyponatremia, Dark urine, Abnormal circulating porphyrin concentration, Porphyrinuria, Atypical s...	ORPHA:79273
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Tremor, Eyelid myoclonus, Clumsiness, Myoclonus, Limb myo...	ORPHA:2590
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Reduced bone minera...	ORPHA:168558
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Peripheral axonal neuropathy, Abnormality of the dorsal column of the spinal cord...	ORPHA:137898
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ...	ORPHA:1067
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus	OMIM:615362
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Erythrokeratodermia Variabilis	Cataract, Corneal opacity, Diabetes mellitus, Tapered finger, Weight loss, Abnormal testis morpho...	ORPHA:317
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus	ORPHA:98763
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Corneal opacity, Metaphyseal widening, Squared iliac bones, Short long bone, Short...	OMIM:618961
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, Microph...	ORPHA:139471
Hereditary Neuropathy With Liability To Pressure Palsies	Vocal cord paralysis	ORPHA:640
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Mucopolysaccharidosis, Type Ivb	Joint laxity, Hepatomegaly, Inguinal hernia, Corneal opacity, Pointed proximal second through fif...	OMIM:253010
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Peripheral opacification of the cornea, Metaphyseal widening, Metatarsal osteolysis, ...	OMIM:259600
Hurler Syndrome	Metaphyseal widening, Flexion contracture, Hernia, Endocardial fibroelastosis, Hepatomegaly, Hypo...	OMIM:607014
Dystonia 12	Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia	OMIM:128235
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Cataract, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circul...	ORPHA:3453
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait	OMIM:600363
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege...	OMIM:615490
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Polyur...	OMIM:241200
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co...	OMIM:603553
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Corneal opacity, Abnormal dental enamel morphology, Patc...	ORPHA:2323
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Bartter Syndrome Type 4	Hyponatremia, Small for gestational age, Renal salt wasting, Increased urinary potassium, Impaire...	ORPHA:89938
Alg12-Cdg	Proximal placement of thumb, Hypoalbuminemia, Abnormal bone ossification, Hypocholesterolemia, Cl...	ORPHA:79324
Slc35A2-Cdg	Camptodactyly of finger, Coxa valga, Metatarsus adductus, Abnormal long bone morphology, Talipes ...	ORPHA:356961
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated circulating creatine kinase concentration, Leukopenia, Vesicoureteral reflux, Micropenis...	OMIM:301056
Machado-Joseph Disease Type 1	Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abn...	ORPHA:276238
Machado-Joseph Disease Type 2	Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abn...	ORPHA:276241
Variegate Porphyria	Paralysis	OMIM:176200
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Machado-Joseph Disease	Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Limb atax...	OMIM:109150
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Lower limb spasticity, Ataxia, Delayed peripheral myelination, Obesity, Fasciculations, Dystonia,...	ORPHA:464282
Panhypophysitis	Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ...	ORPHA:95513
Spinocerebellar Ataxia 25	Decreased number of peripheral myelinated nerve fibers, Oculomotor apraxia, Babinski sign, Ataxia	OMIM:608703
Molybdenum Cofactor Deficiency, Complementation Group B	Spastic tetraplegia, Opisthotonus, Axonal loss, Hypertonia, Gliosis, Myoclonic spasms, Peripheral...	OMIM:252160
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, Ataxia, Cerebral dysmyelination, Dysmyelinating leukodystrophy, Spastic tetraplegia,...	OMIM:609136
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal heart valve morphology, Corneal opacity, Abnormal dental ename...	ORPHA:582
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620126
Short Syndrome	Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal dental enamel morphology, Ing...	ORPHA:3163
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Peripheral axonal neuropathy, Axonal degeneration/regeneration, Tremor, Limb tremor, Facial diple...	OMIM:218000
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bradykinesia,...	OMIM:261640
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Microcornea, Atrial septal defect, Clinodactyl...	OMIM:201000
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Familial Dysautonomia	Hyponatremia, Abnormal peritoneum morphology, Renal insufficiency, Corneal opacity, Recurrent fra...	ORPHA:1764
Hydrolethalus	Anophthalmia, Micromelia, Micrognathia, Postaxial hand polydactyly, Microphthalmia	ORPHA:2189
Microcephaly 10, Primary, Autosomal Recessive	Delayed CNS myelination, Small for gestational age, Hypertonia, Gliosis, Spasticity	OMIM:615095
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Premature adrenarche, Hyponatremia, Hyp...	ORPHA:90794
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620125
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Adenohypophysitis	Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ...	ORPHA:95512
Trisomy 13	Anophthalmia, Postaxial hand polydactyly, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle ...	ORPHA:3378
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Peripheral axonal degeneration, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Parapar...	OMIM:615157
Acute Peripheral Arterial Occlusion	Paralysis	ORPHA:90064
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased number of large peripheral myelinated nerve fibers	OMIM:615376
Anophthalmia Plus Syndrome	Deviation of finger, Anophthalmia	ORPHA:1104
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Corneal opacity, Recurrent fractures, Sclerocornea, ...	OMIM:609465
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal circulating ...	ORPHA:100924
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Brachyolmia Type 1, Toledo Type	Broad tibial metaphyses, Precocious costochondral ossification, Increased urinary disaccharide ex...	OMIM:271630
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Spastic paraparesis	ORPHA:329284
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:251274
Molybdenum Cofactor Deficiency, Complementation Group A	Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Axonal loss, Gliosis, Myoclonic spasms, ...	OMIM:252150
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased...	ORPHA:189427
Leigh Syndrome	Ataxia, Optic atrophy, Hepatocellular necrosis, Gliosis, Dystonia, CNS demyelination, Spasticity,...	OMIM:256000
Whipple Disease	Hyponatremia, Hepatomegaly, Pericarditis, Cachexia, Myocarditis, Mediastinal lymphadenopathy, Spl...	ORPHA:3452
Shigellosis	Hyponatremia, Failure to thrive in infancy, Hemolytic-uremic syndrome, Myocarditis, Leukocytosis,...	ORPHA:810
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys...	ORPHA:70594
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinos...	ORPHA:534
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Spinocerebellar Ataxia With Epilepsy	Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:254881
Tangier Disease	Facial diplegia, Peripheral axonal neuropathy, Peripheral demyelination	OMIM:205400
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Increased ci...	OMIM:201810
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Pontocerebellar Hypoplasia, Type 4	Spasticity, Hypertonia, Gliosis, Myoclonus	OMIM:225753
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ...	ORPHA:403
Huntington Disease-Like 1	Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Clumsiness...	ORPHA:157941
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased number of large peripheral myelinated nerve fibers, Hand tremor, Tongue fasciculations,...	OMIM:162400
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Corneal opacity, Splenomegaly, Lymphadenop...	ORPHA:79292
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Hematuria, Posterior embryotoxon, Iris coloboma	ORPHA:1473
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri...	OMIM:620076
Femoral-Facial Syndrome	Short femur, Maternal diabetes, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pel...	ORPHA:1988
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Delayed CNS myelination, Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, ...	OMIM:618877
Morquio Syndrome C	Corneal opacity	OMIM:252300
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Short tibia, Squared iliac bones, Preaxial ...	OMIM:616300
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, CNS hypomyelination, Le...	OMIM:607694
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Familial Hypoaldosteronism	Hyponatremia, Renal salt wasting, Decreased urinary potassium, Hyperkalemia, Proximal renal tubul...	ORPHA:427
Brittle Cornea Syndrome 2	Keratoconus, Inguinal hernia, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Umbil...	OMIM:614170
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem...	ORPHA:682
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
O'Sullivan-Mcleod Syndrome	Tremor, Atrophy of the spinal cord, Hyperintensity of MRI T2 signal of the spinal cord, Fascicula...	ORPHA:99965
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Failure to thrive, Cataract	OMIM:620157
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Renal insufficiency, Hyper...	ORPHA:95409
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Facial palsy, Spastic paraplegia, Abnorma...	OMIM:256850
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Small for gestational age, Proteinuria, Cor pulmonale, Macronodular cirrhosis, Abnormal T cell mo...	OMIM:215250
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Failure to thr...	ORPHA:90103
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Delayed CNS myelination, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradyki...	OMIM:619725
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased number of peripheral myelinated nerve fibers, Axonal regeneration	OMIM:607831
Multiple Sulfatase Deficiency	CNS demyelination, Spasticity, Ataxia, Peripheral demyelination	OMIM:272200
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis	ORPHA:140989
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Astrocytosis, Gliosis, Myoclonus, Abnormality of ...	ORPHA:204
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,...	OMIM:617145
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Corneal opacity, Metaphyseal spurs, ...	ORPHA:85167
Spinocerebellar Ataxia 2	Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetria, Limb ataxia, Bradykine...	OMIM:183090
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Developmental And Epileptic Encephalopathy 71	CNS demyelination, Gliosis	OMIM:618328
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Ataxia, Dysmetria	OMIM:617917
Inherited Creutzfeldt-Jakob Disease	Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py...	ORPHA:282166
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren...	ORPHA:369929
Zellweger Syndrome	Hepatomegaly, Failure to thrive, Cataract, Ventricular septal defect, Corneal opacity, Multicysti...	ORPHA:912
Mucopolysaccharidosis Type 7	Inguinal hernia, Corneal opacity, Joint stiffness, Metatarsus adductus, Splenomegaly, Hepatitis, ...	ORPHA:584
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas...	OMIM:615954
Trigeminal Neuralgia	CNS demyelination, Cranial nerve compression, Peripheral demyelination	ORPHA:221091
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting	OMIM:201710
Aicardi-Goutieres Syndrome 6	Tremor, Rigidity, Leukodystrophy, Dystonia	OMIM:615010
Porphyria Variegata	Hyponatremia, Neurogenic bladder, Scarring, Abnormal circulating porphyrin concentration, Chronic...	ORPHA:79473
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Snakebite Envenomation	Hyponatremia, Hypopituitarism, Acute kidney injury, Thrombocytopenia	ORPHA:449285
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Spinocerebellar Ataxia, Autosomal Recessive 27	Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gliosis, Spasticity, Frequent falls	OMIM:618369
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Micropenis, De...	ORPHA:90793
Lowry-Maclean Syndrome	Osteopenia, Inguinal hernia, Corneal opacity, Hypospadias, Craniosynostosis, Congenital diaphragm...	ORPHA:2409
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei...	ORPHA:247353
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Spinocerebellar Ataxia Type 3	Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma...	ORPHA:98757
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Hyperkalemia, ...	ORPHA:90790
Charcot-Marie-Tooth Disease Type 1F	Demyelinating sensory neuropathy, Optic nerve hypoplasia, Demyelinating motor neuropathy, Decreas...	ORPHA:101085
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Peripheral axonal neuropathy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Optic atrophy, D...	OMIM:616505
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Hypoplasia of the iris, Hernia, Iris coloboma, Finger syndactyly...	ORPHA:2092
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Cerebrooculonasal Syndrome	Postaxial hand polydactyly, Anophthalmia	ORPHA:66625
Tibial Hemimelia	Absent tibia	OMIM:275220
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ...	ORPHA:91355
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormal peripheral myelination, Tremor, Atrophy of the spinal cord, Upper motor neuron dysfuncti...	ORPHA:466768
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Broad ribs, Iliac crest serration, Limited knee extension, W...	ORPHA:239
Trisomy 1Q	Microretrognathia, Toe syndactyly, Anophthalmia, Arachnodactyly, Camptodactyly of finger, Preaxia...	ORPHA:261344
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Dystonia	OMIM:618049
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter	ORPHA:83601
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hyperphosphaturia, Corneal opacity, Recurrent fractures, Abnormal toe morphology, Pre...	OMIM:163200
4H Leukodystrophy	Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormalit...	ORPHA:289494
Charcot-Marie-Tooth Disease, Type 4B3	Myelin outfoldings, Onion bulb formation	OMIM:615284
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Axonal loss, Onion bulb formation	OMIM:614455
Mucolipidosis Iv	Corneal opacity, Hypergastrinemia, Opacification of the corneal stroma	OMIM:252650
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, CNS hypomyelination, Gait atax...	OMIM:614381
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus, Myoclonic...	ORPHA:79263
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Ataxia, Titubation, Gliosis, Abnormal myelination, Cerebral hypomyelinatio...	ORPHA:280210
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus	OMIM:619028
Glycosylphosphatidylinositol Biosynthesis Defect 15	Tremor, Optic atrophy, Dysmetria, Gait ataxia, Apraxia, Spasticity	OMIM:617810
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif...	OMIM:600785
Charcot-Marie-Tooth Disease Type 1B	Peripheral axonal neuropathy, Peripheral dysmyelination	ORPHA:101082
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Cataract, Corneal opacity, Elevated circulating creatine kinase con...	OMIM:613153
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy, Corneal opacity, Hip dysplasia, Developmental cataract	OMIM:617183
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Myocarditis, Leukocytosis, Abnormal blood ion concentration, O...	ORPHA:31824
Behr Syndrome	Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Progressive spasticity, Truncal ataxia, ...	OMIM:210000
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Abnormal heart valve morphology, Joint stiffness, Splenomegaly, Genu valgum...	ORPHA:583
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Optic atrophy, Myoc...	ORPHA:442835
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Delayed CNS myelination, Clonus, Rigidity, Babinski sign, Optic atrophy, Hypertonia, Gliosis, Myo...	OMIM:614498
Neuropathy, Hereditary Sensory, Type Ie	Decreased number of peripheral myelinated nerve fibers, Ataxia	OMIM:614116
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Weight loss, Periodic paralysis	OMIM:613239
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Tremor, Truncal obesity, Hyperkinetic movem...	OMIM:300957
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor	OMIM:619738
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Decreased circula...	OMIM:613677
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Delayed CNS myelination, Ataxia, Tremor, Hypertonia, Failure to thrive	OMIM:619556
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Corneal opacity, Unilateral renal agenesis, Hip dislocation, Developmen...	OMIM:616603
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me...	ORPHA:240085
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Leukocytosis, Peritonitis, Abnormal heart morphology, Ne...	ORPHA:391673
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Cachexia, Bone-marrow foam cells, Hype...	ORPHA:275761
Leukoencephalopathy With Vanishing White Matter 1	Optic atrophy, CNS demyelination, Gliosis, Cerebral hypomyelination, Spasticity	OMIM:603896
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia	ORPHA:306669
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Microphthalmia, Anophthalmia	ORPHA:77298
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Pes planus, Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Recurrent patellar dislocation, Microph...	OMIM:615877
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Metaphyse...	ORPHA:536471
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Schimke Immuno-Osseous Dysplasia	Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephritis, Decreas...	ORPHA:1830
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy, Progressive...	ORPHA:2821
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss	ORPHA:178509
Fucosidosis	Hepatomegaly, Corneal opacity, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, Mucopol...	ORPHA:349
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Severe demyelination of the white matter, Atrophy of the spinal cord, Optic atrophy, Poor...	ORPHA:79282
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level	OMIM:103900
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Failure to thrive, Corneal opacity, Recurrent fractures, Lipoatrophy, Elevated cir...	OMIM:601812
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Opt...	ORPHA:254930
Myasthenic Syndrome, Congenital, 16	Periodic paralysis	OMIM:614198
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity, Cryptorchidism, Hip dysplasia, 3-Methylglutaconic aciduria, Delayed pu...	ORPHA:496790
Aica-Ribosuria Due To Atic Deficiency	Secundum atrial septal defect, Hyponatremia, Elevated urinary 5-amino-4-imidazolecarboxamide-ribo...	OMIM:608688
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Increased serum beta-hexosaminidase, Craniosynost...	OMIM:252600
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge...	OMIM:274000
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Immunodeficiency 83, Susceptibility To Viral Infections	Hemiparesis, Gliosis	OMIM:613002
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Abnormal heart valve morphology, Corneal opacity, Spatulate ribs, Joint stiffness, ...	OMIM:253220
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Myoclonus, Abnormal cranial nerve morp...	ORPHA:97229
Gm1 Gangliosidosis	Inguinal hernia, Corneal opacity, Ventricular septal defect, Camptodactyly of finger, Joint stiff...	ORPHA:354
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Finger syndactyly, Anophthalmia, Toe syndactyly, Micrognathia, Short foot, S...	ORPHA:264200
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Corneal opacity, Unilateral renal agenesis, Cryptorchidism, Acute leukemia, ...	ORPHA:281090
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele	ORPHA:101030
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babin...	OMIM:614298
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Joint stiffness, Flat capital femoral epiphysis, Genu valgum...	OMIM:252605
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, Tapered finger, Cryptorchidism, Abnormal heart morphology, Short finge...	ORPHA:1867
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Optic atrophy, Gait ataxia, Hyp...	ORPHA:255210
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Gliosis, Myoclonus, Abnormality of extrapyramidal motor function	OMIM:604218
Alpha-Mannosidosis, Adult Form	Osteopenia, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Oligosacchariduria	ORPHA:309288
Wilson Disease	Hepatomegaly, Acute hepatitis, Thrombocytopenia, Splenomegaly, Jaundice, Increased body weight, H...	ORPHA:905
Hurler-Scheie Syndrome	Hepatomegaly, Inguinal hernia, Corneal opacity, Camptodactyly of finger, Joint stiffness, Heparan...	OMIM:607015
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Hypokalemic Periodic Paralysis	Periodic hypokalemic paresis, Respiratory paralysis, Paralysis	ORPHA:681
Glioblastoma	Glioblastoma multiforme, Paralysis	ORPHA:360
Holoprosencephaly	Hyponatremia, Omphalocele, Hypoplasia of penis, Diabetes mellitus, Ventricular septal defect, Abn...	ORPHA:2162
Juvenile Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Abnormal heart morphology, Hepatospleno...	ORPHA:93399
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Mosaic Trisomy 9	Hypoplasia of penis, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Co...	ORPHA:99776
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Cataract, Brushfield spots, Met...	OMIM:214110
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff...	OMIM:619313
Spinocerebellar Ataxia Type 27	Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Sensory axonal neuropathy	ORPHA:98764
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pubic bone, F...	OMIM:617925
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Corneal opacity, Congenital diaphragmatic hernia, ...	ORPHA:1647
Farber Disease	Corneal opacity, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Short toe, Fl...	ORPHA:333
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,...	ORPHA:293978
Meckel Syndrome, Type 2	Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly	OMIM:603194
Spastic Paraplegia 50, Autosomal Recessive	Optic disc pallor, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Gliosis, Limb hype...	OMIM:612936
X-Linked Charcot-Marie-Tooth Disease Type 5	Tremor, Paraparesis, Optic atrophy, Ataxia	ORPHA:99014
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting	OMIM:201910
Chédiak-Higashi Syndrome	Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Pericardial effu...	ORPHA:167
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevat...	OMIM:619991
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Abnormality of the humerus, S...	ORPHA:2538
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T...	OMIM:137440
Rabin-Pappas Syndrome	Hyponatremia, Cataract, Failure to thrive in infancy, Obesity, Tracheomalacia	OMIM:620155
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Amyotrophic lateral sclerosis, Spasticity, Paralysis	ORPHA:803
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Peho Syndrome	Optic atrophy, Myoclonus, Peripheral dysmyelination	OMIM:260565
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Sialidosis Type 1	Cataract, Corneal opacity, Urinary excretion of sialylated oligosaccharides, Splenomegaly, Increa...	ORPHA:812
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Dysmetria, Gait ataxia, Choreoathet...	ORPHA:101
Congenital Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Developmental cataract, Abnormal heart ...	ORPHA:93400
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Sp...	OMIM:618060
Acromelic Frontonasal Dysostosis	Syndactyly, Optic nerve hypoplasia, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hyp...	OMIM:603671
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Familial Cervical Artery Dissection	Facial palsy, Paralysis	ORPHA:36382
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Clonus, Hypertonia, Leukodystrophy, Decreased body weight, Intention tremor, Ataxia, Overweight, ...	OMIM:619475
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation	OMIM:611134
Walker-Warburg Syndrome	Metatarsus valgus, Microphthalmia, Anophthalmia	ORPHA:899
Hurler Syndrome	Hepatomegaly, Corneal opacity, Abnormal heart valve morphology, Camptodactyly of finger, Abnormal...	ORPHA:93473
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Small for gestational age, Clonus, Babinski sign, Spastic tetraplegia, Opisthoton...	OMIM:619847
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Gaucher Disease	Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Hepatomegaly, ...	ORPHA:355
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Pericardial effusion, Cryptorchidism, Elevated circ...	OMIM:618183
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Wilson Disease	Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoaciduria, Hypoalbuminemia...	OMIM:277900
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Scheie Syndrome	Aortic valve stenosis, Corneal opacity, Genu valgum	OMIM:607016
Mucopolysaccharidosis Type 1	Inguinal hernia, Abnormal heart valve morphology, Corneal opacity, Abnormality of the tonsils, Jo...	ORPHA:579
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H...	OMIM:272750
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ...	OMIM:164900
Schisis Association	Encephalocele, Anencephaly, Spina bifida	ORPHA:63862
Charcot-Marie-Tooth Disease Type 4C	Decreased number of peripheral myelinated nerve fibers, Failure to thrive, Frequent falls, Optic ...	ORPHA:99949
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste...	ORPHA:231580
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Facial palsy, Writer's cramp, Tremor, Babinski sign, Torsion d...	OMIM:128100
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro...	ORPHA:1908
Autosomal Recessive Spastic Paraplegia Type 55	Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Poor fine motor coordinati...	ORPHA:320375
Glut1 Deficiency Syndrome 2	Tremor, Ataxia, Choreoathetosis, Dystonia	OMIM:612126
Developmental And Epileptic Encephalopathy 4	Delayed CNS myelination, Tremor, Spastic paraplegia, Spastic tetraplegia, Choreoathetosis, Cerebr...	OMIM:612164
Mucopolysaccharidosis Type 3	Cardiomegaly, Adenoiditis, Flexion contracture, Reduced bone mineral density, Hepatomegaly, Abnor...	ORPHA:581
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Neurogenic bladder, Hyperthyroidism, Ventricular septal defect, Corn...	ORPHA:488632
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Corneal opacity, Small hand, Antecubital pterygium, Popliteal pt...	OMIM:619339
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Toxin-Mediated Infectious Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:230800
Mucopolysaccharidosis, Type Iva	Joint laxity, Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Coxa valga, Epiphys...	OMIM:253000
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Inguinal hernia, Hepatomegaly, Corneal opacity, Joint stiffness, Splenomega...	OMIM:253200
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with...	OMIM:607060
Japanese Encephalitis	Hyperintensity of MRI T2 signal of the spinal cord, Weakness due to upper motor neuron dysfunctio...	ORPHA:79139
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor...	ORPHA:3077
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Myelopathy, Ab...	ORPHA:139396
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Multiple Sulfatase Deficiency	Broad hallux phalanx, Hepatomegaly, Cataract, Corneal opacity, Joint stiffness, Splenomegaly, Muc...	ORPHA:585
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Hypermanganesemia With Dystonia 2	Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Clumsiness, Op...	OMIM:617013
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Fabry Disease	Conjunctival telangiectasia, Corneal dystrophy, Abnormal femur morphology, Reduced bone mineral d...	ORPHA:324
Sjogren-Larsson Syndrome	Enamel hypoplasia, Astigmatism, Flexion contracture, Opacification of the corneal epithelium	OMIM:270200
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism	OMIM:152950
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait	OMIM:616795
Cholera	Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo...	ORPHA:173
Ddost-Cdg	Tremor, Failure to thrive, Oromotor apraxia, CNS hypomyelination	ORPHA:300536
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Dystonia, Ataxia, Small for gestational age, Tremor, Dysmetria, Gliosis, Truncal ataxia, CNS demy...	OMIM:220111
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity	ORPHA:1170
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Abnormality of coordination, Ataxia, Parkinsonism, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Oculomaxillofacial Dysostosis	Brachydactyly, Corneal opacity, Camptodactyly of finger, Abnormality of the humerus, Adducted thumb	ORPHA:1794
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Infant Botulism	Hyponatremia, Keratoconjunctivitis sicca, Mydriasis	ORPHA:178478
Vacterl With Hydrocephalus	Absence of the sacrum, Anophthalmia, Micrognathia, Hypoplasia of the radius, Hip dislocation, Mic...	ORPHA:3412
Scheie Syndrome	Hepatomegaly, Corneal opacity, Joint stiffness, Splenomegaly, Limitation of joint mobility, Mucop...	ORPHA:93474
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight l...	ORPHA:94080
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Mucolipidosis Ii Alpha/Beta	Osteopenia, Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening, Megalocornea...	OMIM:252500
Cockayne Syndrome Type 2	Anophthalmia	ORPHA:90322
Maternal Uniparental Disomy Of Chromosome 6	Inguinal hernia, Hydrocele testis, Slender long bone, Increased serum testosterone level, Congeni...	ORPHA:96181
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Autosomal Recessive Cutis Laxa Type 2A	Inguinal hernia, Congenital hip dislocation, Corneal opacity, Increased susceptibility to fractur...	ORPHA:357058
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis...	OMIM:617710
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Wildervanck Syndrome	Meningocele	ORPHA:3456
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Corneal opacity, Aplasia/Hypoplasia of the distal phalanges of...	ORPHA:1234
Caudal Duplication	Myelomeningocele, Spina bifida	ORPHA:1756
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Overweight, Hyperkinetic movements, Upper limb spasticity, Gliosis	ORPHA:457240
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan...	OMIM:168000
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia	OMIM:608033
De Barsy Syndrome	Osteopenia, Inguinal hernia, Cataract, Ventricular septal defect, Corneal opacity, Congenital hip...	ORPHA:2962
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Micrognathia, Tibial bowing, Hypoplastic iliac wing, Short tibia, Small proximal tibial epiphyses...	ORPHA:96334
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin...	ORPHA:90038
3Q29 Microduplication Syndrome	Cataract, Ventricular septal defect, Toe syndactyly, Sclerocornea, Craniosynostosis, Sandal gap, ...	ORPHA:251038
East Syndrome	Peripheral axonal neuropathy, Peripheral hypomyelination, Ataxia, Action tremor	ORPHA:199343
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Periodic paralysis	OMIM:188580
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Broad toe, Posterior embryotoxon, Ventricular septal defect, Rocker bottom foot, Sh...	OMIM:612582
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Pancytopenia, Cataract, Corneal opacity, Thickened ribs, Craniosynostos...	ORPHA:309282
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Femoral bowing, Micropenis, Decreased circulating renin lev...	OMIM:201750
Parkinson Disease, Late-Onset	Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:168600
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Sclerocornea, Limbal dermoid, Cryptorchidism, Hypoplasia of the iris, ...	OMIM:613001
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Corneal opacity, Unilateral renal agenesis, Craniosynostosis, Developmental glaucoma, Aniridia	ORPHA:1064
Mosaic Trisomy 8	Corneal opacity, Camptodactyly of finger, Cryptorchidism, Limitation of joint mobility, Abnormal ...	ORPHA:96061
Pontocerebellar Hypoplasia, Type 2A	Chorea, Optic atrophy, Opisthotonus, Gliosis, Extrapyramidal dyskinesia, Dystonia	OMIM:277470
Osteogenesis Imperfecta	Osteopenia, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Abnormal femur morpho...	ORPHA:666
Chime Syndrome	Ventricular septal defect, Corneal opacity, Aplastic clavicle, Aplasia/Hypoplasia of the phalange...	ORPHA:3474
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Renal insufficiency, Small for gestational age, Proteinuria, Bilateral ...	OMIM:242900
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Hypoplasia of penis, Cataract, Corneal opacity, Camptodactyly of finger, Scler...	ORPHA:284160
Focal Dermal Hypoplasia	Anophthalmia, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyl...	OMIM:305600
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Sclerocornea, 2-3 toe cutaneous syndactyly, Knee flexion contracture, F...	OMIM:600920
Lissencephaly Syndrome, Norman-Roberts Type	Rocker bottom foot, Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Adducted thumb	ORPHA:89844
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Babinski sign, Optic atrophy, Abnormal pyramidal sign, Fo...	ORPHA:52368
Oculocerebral Hypopigmentation Syndrome, Cross Type	Inguinal hernia, Cataract, Corneal opacity, Arachnodactyly, Ureteral stenosis, Abnormal thumb mor...	ORPHA:2719
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Diabetes mellitus, Anuria, Myocarditis, Leukocytosis, Hyperkalemi...	ORPHA:544482
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Dilated cardiomyo...	OMIM:610505
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Thoraco-Abdominal Enteric Duplication	Meningocele	ORPHA:1759
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Proteinuria, Corneal opacity, Ulnar bowing, Hematuria, Aplasia/Hypoplasia of the r...	ORPHA:1765
Mitochondrial Neurogastrointestinal Encephalomyopathy	Peripheral axonal neuropathy, Cachexia, Decreased number of large peripheral myelinated nerve fib...	ORPHA:298
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Camptodactyly of finger, Ulnar deviation of finger, Talipes equinovarus, Aniridia	ORPHA:1101
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Vocal cord paralysis, Chemodectoma, Adrenal pheochromocytoma, Glom...	OMIM:605373
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Clinodactyly of the 5th f...	ORPHA:464306
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gliosis, Myoclonus, Dystonia	OMIM:168601
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Failure to thrive, Ventricular septal defect, Corneal opacity, Ankle flexion contracture, Tapered...	ORPHA:464311
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Long penis, Adrenogenita...	OMIM:202010
Acute Intermittent Porphyria	Hyponatremia, Dark urine, Renal insufficiency, Urinary incontinence, Dysuria, Porphyrinuria, Incr...	ORPHA:79276
X-Linked Adrenoleukodystrophy	Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis	ORPHA:43
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Corneal opacity, Chronic noninfectious lymphaden...	ORPHA:31150
Mosaic Trisomy 1	Congenital diaphragmatic hernia, Renal cyst, Finger clinodactyly, Micropenis, Absent distal inter...	ORPHA:1692
Seckel Syndrome 1	11 pairs of ribs, Pes planus, Hyperactivity, Ivory epiphyses, Sandal gap, Abnormal finger flexion...	OMIM:210600
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Perry Syndrome	Parkinsonism, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia	OMIM:168605
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Missing ribs, Microphthalmia, Vertebra...	OMIM:206900
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality...	OMIM:613280
Williams Syndrome	Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc...	ORPHA:904
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Gm1-Gangliosidosis, Type Iii	Hypoplastic acetabulae, Flared iliac wing, Opacification of the corneal stroma	OMIM:230650
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Renal cyst, Atrial septal defect, Intrahepatic biliary dysgenesis,...	OMIM:614866
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Opacification of the corneal stroma, Polycystic ovaries	ORPHA:1643
Pseudo-Torch Syndrome 1	Hepatomegaly, Renal insufficiency, Cataract, Splenomegaly, Jaundice, Opacification of the corneal...	OMIM:251290
Arnold-Chiari Malformation Type I	Myelopathy, Cranial nerve compression, Babinski sign, Vocal cord paralysis, Abnormality of the ve...	ORPHA:268882
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Syringomyelia, Failure to thrive in infancy	ORPHA:477817
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelinat...	OMIM:618527
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop...	ORPHA:217085
Tick-Borne Encephalitis	Speech apraxia, Incoordination, Facial palsy, Paralysis, Tremor, Abnormal glossopharyngeal nerve ...	ORPHA:297
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Meckel Syndrome	Bowing of the long bones, Anophthalmia, Talipes, Micrognathia, Preaxial hand polydactyly, Postaxi...	ORPHA:564
Adult-Onset Autosomal Dominant Leukodystrophy	Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Atrophy of th...	ORPHA:99027
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Cockayne Syndrome Type 1	Anophthalmia, Foot joint contracture	ORPHA:90321
Progressive Supranuclear Palsy	Tremor, Rigidity, Bradykinesia, Blepharospasm, Gliosis, Dystonia	ORPHA:683
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination	ORPHA:168563
Neurodegeneration With Brain Iron Accumulation 2A	Ataxia, Abnormal pyramidal sign, Spastic tetraplegia, Optic atrophy, Gliosis	OMIM:256600
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	OMIM:300894
Mucopolysaccharidosis Type 2	Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morpholo...	ORPHA:580
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop...	ORPHA:217093
Incontinentia Pigmenti	Finger syndactyly, Cataract, Corneal opacity, Camptodactyly of finger, Supernumerary nipple, Abno...	ORPHA:464
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Cataract, Corneal opacity, Multiple lipomas, Clinodactyly of the 5th finger, ...	ORPHA:2399
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Ventricular septal defect, Rocker bottom...	OMIM:214100
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Ataxia, Dysmetria, Titubation	OMIM:619405
Fryns Syndrome	Omphalocele, Multicystic kidney dysplasia, Corneal opacity, Hypospadias, Congenital diaphragmatic...	ORPHA:2059
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, ...	ORPHA:411629
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos, Micrognathia	OMIM:601186
Camptodactyly Syndrome, Guadalajara Type 1	Intrauterine growth retardation, Short stature, Spina bifida	ORPHA:1327
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Foodborne Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:228371
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ...	ORPHA:293987
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Sclerocornea, Congenital diaphragmatic hernia, Hernia, Atrial septal def...	ORPHA:280
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Corneal opacity, Abnormal morp...	ORPHA:570
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe...	ORPHA:240071
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Rigidity, Weight loss, Bradykinesia, Gliosis, Dystonia, Parkinsonis...	ORPHA:411602
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Astigmatism, Abnormal metacarpal morphology, Umbilical hernia, Coronal craniosynost...	ORPHA:2095
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Axenfeld-Rieger Syndrome, Type 2	Inguinal hernia, Hypospadias, Cryptorchidism, Abnormal heart morphology, Microcornea, Opacificati...	OMIM:601499
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Conjunctivitis, Corneal opacity	OMIM:602562
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Congenital Disorder Of Deglycosylation 1	Hepatomegaly, Corneal opacity, Elevated circulating alpha-fetoprotein concentration, Heparan sulf...	OMIM:615273
Cerebrooculonasal Syndrome	Postaxial hand polydactyly, Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly	OMIM:605627
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Spasticity	OMIM:616586
Tay-Sachs Disease	Exaggerated startle response, Incoordination, Dystonia, Tremor, Laryngeal dystonia, Optic atrophy...	ORPHA:845
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Peripheral axonal neuropathy, Dystonia, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gai...	OMIM:606002
Olmsted Syndrome 1	Flexion contracture, Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Corneal opacity, Lipodystrophy, Bone cyst, Osteolysis, Multiple lipoma...	ORPHA:2396
Hutchinson-Gilford Progeria Syndrome	Osteoarthritis, Reduced bone mineral density, Limitation of movement at ankles, Abnormal mitral v...	ORPHA:740
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Failure to thrive, Small for gestational age, Patent urachus	OMIM:618252
Lathosterolosis	Cataract, Toe syndactyly, Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, I...	OMIM:607330
Occipital Horn Syndrome	Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h...	ORPHA:198
Larsen Syndrome	Joint laxity, Vertebral fusion, Short metacarpal, Ventricular septal defect, Corneal opacity, Tra...	OMIM:150250
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Ichthyosis, X-Linked	Testicular neoplasm, Opacification of the corneal stroma, Cryptorchidism	OMIM:308100
Charcot-Marie-Tooth Disease Type 4B2	Tremor, Optic atrophy, Vocal cord paralysis, Poor fine motor coordination, Myelin outfoldings	ORPHA:99956
Brown-Vialetto-Van Laere Syndrome 1	Ataxia, Facial palsy, Vocal cord paralysis, Clumsiness, Ankle clonus, Tongue fasciculations, Knee...	OMIM:211530
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Ataxia, Dysdiadochokinesis, Peripheral hypomyelination, Chronic axonal neuropathy, Intention tremor	OMIM:612780
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Isolated Posterior Meningocele	Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Sclerocornea, Cardiomegaly, Abnormal finger morpholo...	ORPHA:3472
Cockayne Syndrome B	Failure to thrive, Ataxia, Abnormal peripheral myelination, Small for gestational age, Tremor, Op...	OMIM:133540
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,...	ORPHA:276621
3Mc Syndrome 3	Corneal opacity, Cryptorchidism, Preaxial polydactyly, Horseshoe kidney, Micropenis, Radioulnar s...	OMIM:248340
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Congenital malformation of the...	ORPHA:3455
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Sirenomelia	Spina bifida, Sirenomelia	ORPHA:3169
Hydrolethalus Syndrome 1	Omphalocele, Accessory spleen, Ventricular septal defect, Hypospadias, Preaxial hand polydactyly,...	OMIM:236680
Mannosidosis, Alpha B, Lysosomal	Delayed myelination, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Gliosis, S...	OMIM:248500
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis, Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:611812
Poliomyelitis	Paralysis, Paraparesis, Hyperkinetic movements, Fasciculations, Myelitis	ORPHA:2912
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Limitation of joint mobility, Coxa vara, Hypoplasia of the capital femoral epiphysis, Irregular e...	OMIM:313400
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Isolated Klippel-Feil Syndrome	Spina bifida	ORPHA:2345
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Tetraamelia Syndrome 1	Cataract, Congenital diaphragmatic hernia, Asplenia, Urethral atresia, Hypoplastic pelvis, Adrena...	OMIM:273395
Joubert Syndrome 21	Anophthalmia, Short ribs, Dysphagia	OMIM:615636
Wagro Syndrome	Cataract, Corneal opacity, Proteinuria, Obesity, Aniridia, Decreased testicular size	OMIM:612469
Autosomal Dominant Spastic Paraplegia Type 9A	Abnormality of the dorsal column of the spinal cord, Tremor, Babinski sign, Abnormal pyramidal si...	ORPHA:447753
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity, Scarring, Craniosynostosis, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia, ...	ORPHA:79396
Charge Syndrome	Anophthalmia, Talipes, Abnormal tibia morphology, Bifid femur, Compulsive behaviors, Attention de...	ORPHA:138
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte...	OMIM:164745
Triploidy	Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Choreoacanthocytosis	Decreased number of peripheral myelinated nerve fibers, Resting tremor, Peripheral axonal neuropa...	ORPHA:2388
Cerebrocostomandibular Syndrome	Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth ...	ORPHA:1393
Migraine, Familial Hemiplegic, 2	Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Stromme Syndrome	Accessory spleen, Cataract, Sclerocornea, Bilateral renal hypoplasia, Preaxial polydactyly, Micro...	OMIM:243605
Glossopharyngeal Neuralgia	Cranial nerve compression, Schwannoma, Vocal cord paralysis, Weight loss, Abnormal glossopharynge...	ORPHA:221098
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Microphthalmia, Syndromic 2	Anophthalmia, Broad hallux, Sandal gap, 2-3 toe cutaneous syndactyly, 2-3 toe syndactyly, Hammert...	OMIM:300166
Autosomal Recessive Spondylocostal Dysostosis	Short stature, Meningocele, Umbilical hernia, Spina bifida occulta, Intrauterine growth retardation	ORPHA:2311
Craniosynostosis With Fibular Aplasia	Fibular aplasia	OMIM:218550
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea	ORPHA:83461
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Cataract, Corneal opacity, Osteolysis, Acute lymphoblastic leukemia...	ORPHA:1052
Doors Syndrome	11 pairs of ribs, Increased urine alpha-ketoglutarate concentration, Cataract, Aplasia/Hypoplasia...	ORPHA:79500
Recessive X-Linked Ichthyosis	Cryptorchidism, Opacification of the corneal stroma	ORPHA:461
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Charge Syndrome	Hypoplasia of the ulna, Anophthalmia, Down-sloping shoulders, Micrognathia, Absent radius, Short ...	OMIM:214800
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, C...	OMIM:256040
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia	ORPHA:240094
Kindler Epidermolysis Bullosa	Urethral stricture, Finger syndactyly, Corneal opacity, Camptodactyly of finger, Abnormal dental ...	ORPHA:2908
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Vestibular areflexia, Spastic tetraplegia, Gliosis, Dystonia	ORPHA:3240
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclonus, Dystonia, Spasticity	ORPHA:500144
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Cockayne Syndrome A	Failure to thrive, Ataxia, Abnormal peripheral myelination, Tremor, Optic atrophy, Peripheral dys...	OMIM:216400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Cryptorchidism, Bu...	OMIM:236670
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Ataxia, Paralysis, Astrocytosis, Hypertonia, Gliosis, Myoclonus, Tetraparesis, Failure to thrive	OMIM:203700
Aceruloplasminemia	Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ...	ORPHA:48818
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Sclerocornea, Proximal placement of thumb, Congenital diaphragmatic hernia, ...	ORPHA:818
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen...	OMIM:185070
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
Neurofibromatosis Type 1	Cataract, Corneal opacity, Recurrent fractures, Joint stiffness, Abnormality of the endocrine sys...	ORPHA:636
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,...	OMIM:231005
Familial Acute Necrotizing Encephalopathy	Rigidity, Spastic tetraplegia, Hypertonia, Gliosis, Spasticity	ORPHA:88619
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ...	OMIM:221800
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic...	ORPHA:79102
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, Knee flexion contracture, Atrial septal defect, Phocomelia, Wrist flexion contra...	OMIM:268300
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Holoprosencephaly 9	Microphthalmia, Postaxial hand polydactyly, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Histiocytoid Cardiomyopathy	Hepatomegaly, Corneal opacity, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ov...	ORPHA:137675
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca	ORPHA:1806
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Inguinal hernia, Corneal opacity, Unilateral renal agenesis, Dilatation...	ORPHA:90348
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Gomez-Lopez-Hernandez Syndrome	Craniosynostosis, Decreased response to growth hormone stimulation test, Opacification of the cor...	OMIM:601853
Laryngeal Abductor Paralysis	Vocal cord paralysis	OMIM:150260
Limb Body Wall Complex	Ventral hernia, Ventricular septal defect, Corneal opacity, Broad hallux, Aplasia/hypoplasia invo...	ORPHA:2369
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Anophthalmia, Aplasia/Hypoplasia of the sternum, Bilateral micro...	OMIM:219000
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Proximal placement of thumb, Large for gestation...	OMIM:229850
Insensitivity To Pain, Congenital, With Anhidrosis	Osteomyelitis, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn...	OMIM:256800
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Digeorge Syndrome	Sclerocornea, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypoc...	OMIM:188400
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Inhalational Botulism	Paralysis	ORPHA:254504
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Mitral valve calcification, Pancytopenia, Corneal opacity, Cachexia, Aortic valve ...	ORPHA:2072
Microphthalmia, Isolated, With Coloboma 9	Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea	OMIM:615145
Cerebrotendinous Xanthomatosis	Optic disc pallor, Resting tremor, Dystonia, Ataxia, Parkinsonism, Optic neuropathy, Paraparesis,...	ORPHA:909
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Cataract, Sclerocornea, Cryptorchidism, Camptodactyly, Micropenis	OMIM:614230
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Fountain Syndrome	Spina bifida occulta, Short stature, Spina bifida	ORPHA:3219
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Gliosis, Myoclonus, Dystonia	OMIM:618321
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Toe syndactyly, Cataract, Intrahepatic cholestasis, Postaxial ...	ORPHA:46059
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis	ORPHA:397744
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic disc pallor, Dystonia, Small for gestational age, Delayed myelination, Chorea, Optic atroph...	ORPHA:404454
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all phalanges of fingers, Opacification of the corneal stroma, Shortening of all me...	OMIM:601356
Galactosialidosis	Conjunctival telangiectasia, Visceromegaly, Opacification of the corneal stroma, Hepatosplenomegaly	OMIM:256540
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia, Failure to thrive	OMIM:618426
Peters Plus Syndrome	Ureteral duplication, Bicuspid pulmonary valve, Microcornea, Clinodactyly of the 5th finger, Iris...	ORPHA:709
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Small for gestational age, Proteinuri...	OMIM:251300
Waardenburg Syndrome Type 1	Meningocele, Spina bifida	ORPHA:894
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d...	ORPHA:140
Hereditary Sensory And Autonomic Neuropathy Type 5	Decreased number of small peripheral myelinated nerve fibers	ORPHA:64752
Mucolipidosis Type Iv	Corneal opacity	ORPHA:578
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Decreased number of peripheral myelinated nerve fibers, Ataxia, Hepatocellular necrosis, Dystonia...	OMIM:256810
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Growth delay	OMIM:614424
Bartsocas-Papas Syndrome 1	Ectopic kidney, Bilateral cryptorchidism, Flexion contracture, Hypoplastic iliac wing, Pterygium,...	OMIM:263650
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,...	ORPHA:29072
Pelvis-Shoulder Dysplasia	Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-...	ORPHA:2839
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Anophthalmia, Toe syndactyly, Micrognathia, Short middle ph...	OMIM:607932
Spongiform Encephalopathy With Neuropsychiatric Features	Gliosis, Parkinsonism	OMIM:606688
Iniencephaly	Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys...	ORPHA:63259
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased number of peripheral myelinated nerve fibers	OMIM:201300
Porphyria, Acute Intermittent	Respiratory paralysis, Paralysis	OMIM:176000
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Cataract, Sclerocornea, Congenital diaphragmatic her...	OMIM:309801
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:615530
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Astrocytosis, Bradykinesia, Glios...	OMIM:601104
Anaplastic Thyroid Carcinoma	Vocal cord paralysis, Weight loss	ORPHA:142
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Microphthalmia With Linear Skin Defects Syndrome	Mandibular aplasia, Microphthalmia, Anophthalmia, Micrognathia	ORPHA:2556
Yunis-Varon Syndrome	Congenital hip dislocation, Sclerocornea, Short metatarsal, Absent hallux, Micropenis, Decreased ...	OMIM:216340
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele, Short stature	ORPHA:2031
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Sclerocornea, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Fa...	OMIM:300952
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of...	OMIM:208500
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele	ORPHA:2003
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis	ORPHA:684
Rodrigues Blindness	Microcornea, Sclerocornea	OMIM:268320
Coloboma, Ocular, Autosomal Dominant	Vesicoureteral reflux, Corneal opacity, Peters anomaly	OMIM:120200
Neurocutaneous Melanocytosis	Meningocele	ORPHA:2481
Ablepharon Macrostomia Syndrome	Omphalocele, Hypoplasia of penis, Toe syndactyly, Corneal opacity, Camptodactyly of finger, Corne...	ORPHA:920
Proboscis Lateralis	Microphthalmia, Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia	ORPHA:141099
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Rickets, Stage 5 chronic kidney disease, Corneal crystals	OMIM:219900
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of t...	ORPHA:364577
Oculoauricular Syndrome	Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th...	OMIM:612109
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Neu-Laxova Syndrome 2	Intrauterine growth retardation, Spina bifida	OMIM:616038
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Fraser Syndrome	Finger syndactyly, Toe syndactyly, Anophthalmia, Microphthalmia, Wide pubic symphysis	ORPHA:2052
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Inguinal hernia, Abnormal pelvis bone morphology, Corneal opacity, Camptodactyly of ...	ORPHA:2273
Niemann-Pick Disease Type C	Speech apraxia, Lower limb spasticity, Axial dystonia, Dystonia, Ataxia, Tremor, Chorea, Upper mo...	ORPHA:646
Supranuclear Palsy, Progressive, 2	Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Rigidity, Bradykinesia, Gliosis, R...	OMIM:609454
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Optic atrophy, Abnormal py...	OMIM:234200
Phace Syndrome	Cataract, Sclerocornea, Hypothyroidism, Lens coloboma, Abnormal heart morphology, Abnormal cardia...	ORPHA:42775
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Spina bifida	ORPHA:1120
Gitelman Syndrome	Failure to thrive, Ataxia, Paralysis	OMIM:263800
Neurocardiofaciodigital Syndrome	Syndactyly, Failure to thrive, Cataract, Small for gestational age, Sclerocornea, Vesicoureteral ...	OMIM:619869
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Corneal opacity, Aplasia of the distal phalanx of the 5th toe, Ventric...	OMIM:608670
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis	ORPHA:37553
Neuromuscular Oculoauditory Syndrome	Sensory axonal neuropathy, Peripheral hypomyelination	OMIM:618733
Amish Lethal Microcephaly	Spina bifida	ORPHA:99742
Oculoectodermal Syndrome	Supernumerary nipple, Limbal dermoid, Pineal cyst, Microcornea, Astigmatism, Opacification of the...	OMIM:600268
Bohring-Opitz Syndrome	Failure to thrive, Delayed peripheral myelination	OMIM:605039
African Trypanosomiasis	Papilledema, Abnormal central motor function, Involuntary movements, Paralysis, Tremor, Myelopath...	ORPHA:3385
Apolipoprotein A-I Deficiency	Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Opacification ...	ORPHA:425
Mucoepithelial Dysplasia, Hereditary	Cataract, Eosinophilia, Cor pulmonale, Keratoconjunctivitis, Hematuria, Opacification of the corn...	OMIM:158310
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the ure...	ORPHA:2907
Microphthalmia, Syndromic 1	Syndactyly, Anophthalmia, Down-sloping shoulders, Aggressive behavior, Short clavicles, Radial de...	OMIM:309800
Branchiooculofacial Syndrome	Anophthalmia, Proximal placement of thumb, Micrognathia, Short thumb, Preaxial hand polydactyly, ...	OMIM:113620
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Lateral Meningocele Syndrome	Umbilical hernia, Hydrocephalus, Meningocele, Short stature	OMIM:130720
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Trisomy 18	Short stature, Spina bifida, Anencephaly, Growth delay, Holoprosencephaly, Intrauterine growth re...	ORPHA:3380
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased number of large peripheral myelinated nerve fibers, Incoordination	OMIM:223900
Rift Valley Fever	Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis	ORPHA:319251
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Corneal dystrophy, Hypospadias, Cryptorchidism, Renal cyst, Buphthalmos, Keratoc...	ORPHA:495875
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ...	OMIM:304120
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Lateral Meningocele Syndrome	Umbilical hernia, Meningocele	ORPHA:2789
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria,...	OMIM:175780
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Cachexia...	ORPHA:649
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic hypokalemic paresis, Periodic paralysis	OMIM:170390
Chromosome 17P13.1 Deletion Syndrome	Umbilical hernia, Hydrocephalus, Spina bifida	OMIM:613776
Xeroderma Pigmentosum	Conjunctival telangiectasia, Craniofacial hyperostosis, Cataract, Keratitis, Cryptorchidism, Amin...	ORPHA:910
Kinsship Syndrome	Pes planus, Micrognathia, Coxa valga, Hip dislocation, Bruxism, Fibular hypoplasia, Polydactyly, ...	OMIM:619297
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Short stature, Rhizomelic leg shortening, Meningocele, Rhizomelic arm sh...	ORPHA:397715
Trisomy 20P	Umbilical hernia, Spina bifida	ORPHA:261318
Distal Renal Tubular Acidosis	Failure to thrive, Paralysis	ORPHA:18
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Pineoblastoma	Papilledema, Paralysis	ORPHA:251909
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Optic nerve compression	OMIM:259730
Pagod Syndrome	Encephalocele, Meningocele, Short stature, Spina bifida	ORPHA:991
Neu-Laxova Syndrome	Intrauterine growth retardation, Spina bifida	ORPHA:2671
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short...	OMIM:218330
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Inguinal hernia, Tapere...	OMIM:303600
Nail-Patella Syndrome	Short stature, Spina bifida	OMIM:161200
Waardenburg Syndrome, Type 1	Myelomeningocele, Spina bifida	OMIM:193500
Phakomatosis Pigmentokeratotica	Spina bifida	ORPHA:2874
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Craniofacial Microsomia 1	Anophthalmia, Micrognathia, Partial duplication of thumb phalanx, Genu valgum, Microphthalmia, Ve...	OMIM:164210
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Occipital meningocele, Hydrocephalus, Anencephaly	OMIM:616546
Hallermann-Streiff Syndrome	Proportionate short stature, Spina bifida	OMIM:234100
Tyrosinemia, Type I	Failure to thrive, Periodic paralysis	OMIM:276700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs, Multicystic kidney dysplasia, Elevated circulating creatine kinase concentratio...	OMIM:615287
Gitelman Syndrome	Failure to thrive, Paralysis	ORPHA:358
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida	OMIM:162200
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Jacobsen Syndrome	Growth delay, Intrauterine growth retardation, Short stature, Spina bifida	ORPHA:2308
22Q11.2 Deletion Syndrome	Short stature, Spina bifida, Hydrocephalus, Meningocele, Occipital myelomeningocele, Umbilical he...	ORPHA:567
Neu-Laxova Syndrome 1	Hydranencephaly, Spina bifida, Stillbirth, Short umbilical cord, Small placenta, Neonatal death, ...	OMIM:256520
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Inguinal hernia, Multicystic kidney dysplasia, Hypospadias, Unilateral renal agenesi...	OMIM:308205
Orofaciodigital Syndrome Vi	Occipital meningocele, Short stature	OMIM:277170
Fanconi Anemia	Short stature, Spina bifida, Hydrocephalus, Growth delay, Umbilical hernia, Intrauterine growth r...	ORPHA:84
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Tsh-Secreting Pituitary Adenoma	Tremor, Periodic hypokalemic paresis, Weight loss	ORPHA:91347
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma, Cardiomegaly	ORPHA:79280
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short stature, Spina bifida	ORPHA:508498
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele	ORPHA:1010
Aicardi Syndrome	Postnatal growth retardation, Spina bifida	OMIM:304050
Vater/Vacterl Association	Occipital encephalocele, Spina bifida, Postnatal growth retardation, Patent urachus, Intrauterine...	OMIM:192350
Koolen-De Vries Syndrome Due To A Point Mutation	Postnatal growth retardation, Hydrocephalus, Spina bifida	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Postnatal growth retardation, Hydrocephalus, Spina bifida	ORPHA:363958
Rubinstein-Taybi Syndrome 1	Short stature, Spina bifida, Postnatal growth retardation, Growth delay, Spina bifida occulta	OMIM:180849
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Opacification of the c...	OMIM:253280
Arima Syndrome	Growth delay, Occipital meningocele	OMIM:243910
Knobloch Syndrome 1	Occipital meningocele, Occipital encephalocele, Spina bifida occulta	OMIM:267750
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Spina bifida	OMIM:619480
Marfan Syndrome	Meningocele	ORPHA:558
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype	Allele	Zygosity	Sex	Life Stage
Sciatic nerve - MPATH pathological process term dysplasia	Tenm4^em1(IMPC)Tcp	HOM		Late adult
Sciatic nerve - MPATH pathological process term hydropic degeneration	Tenm4^em1(IMPC)Tcp	HOM		Late adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tenm4.

No publications found that use IMPC mice or data for Tenm4.

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MGI Allele	Allele Type	Produced
Tenm4^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tenm4^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Tenm4^em1(IMPC)Tcp	Exon Deletion	Mice, Tissue
Tenm4^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tenm4^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Tenm4 MGI:2447063

Gene Summary

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Phenotypes

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Human diseases caused by Tenm4 mutations

Histopathology

IMPC related publications

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