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Gene: Tenm4 MGI:2447063

Gene Summary

Name:

teneurin transmembrane protein 4

Synonyms:

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

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
increased grip strength	Tenm4^em1(IMPC)Tcp	HOM	Late adult	1.01×10^-06
increased circulating sodium level	Tenm4^em1(IMPC)Tcp	HOM	Late adult	1.97×10^-06
decreased lean body mass	Tenm4^em1(IMPC)Tcp	HOM	Late adult	8.54×10^-06
decreased bone mineral density	Tenm4^em1(IMPC)Tcp	HOM	Late adult	1.71×10^-06
decreased grip strength	Tenm4^em1(IMPC)Tcp	HOM	Early adult	9.22×10^-08
increased circulating chloride level	Tenm4^em1(IMPC)Tcp	HOM	Late adult	6.24×10^-06
decreased fasting circulating glucose level	Tenm4^em1(IMPC)Tcp	HOM	Early adult	2.81×10^-06
decreased thigmotaxis	Tenm4^em1(IMPC)Tcp	HOM	Early adult	6.56×10^-05
decreased total body fat amount	Tenm4^em1(IMPC)Tcp	HOM	Late adult	8.05×10^-05
corneal opacity	Tenm4^em1(IMPC)Tcp	HOM	Late adult	7.18×10^-07
abnormal sternum morphology	Tenm4^em1(IMPC)Tcp	HOM	Late adult	0.00
decreased heart weight	Tenm4^em1(IMPC)Tcp	HOM	Late adult	4.01×10^-07
decreased spleen weight	Tenm4^em1(IMPC)Tcp	HOM	Late adult	9.18×10^-05
small adrenal glands	Tenm4^em1(IMPC)Tcp	HOM	Late adult	0.00
enlarged urinary bladder	Tenm4^em1(IMPC)Tcp	HOM	Late adult	0.00
anophthalmia	Tenm4^em1(IMPC)Tcp	HOM	Early adult	0.00
increased bone mineral content	Tenm4^em1(IMPC)Tcp	HOM	Late adult	8.20×10^-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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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

161 Images

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Eye Morphology

Images Slit Lamp

114 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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Histopathology

Images

24 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 Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral 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 Skull Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

16 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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X-ray

XRay Images Whole Body 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 (971 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		Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic 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	Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d...	OMIM:118005
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Decreased number of peripheral myelinated nerve fibers, Clusters of axonal regeneration, ...	OMIM:607734
Optic Atrophy 2	Optic atrophy, Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Roussy-Levy Hereditary Areflexic Dystasia	Hypertrophic nerve changes, Gait ataxia, Action tremor, Upper limb postural tremor, Decreased num...	OMIM:180800
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Gliosis, Athetosis, Dystonia, Paralysis, Amyotrophic lateral sclerosis, Axonal loss	OMIM:300857
Autosomal Recessive Spastic Paraplegia Type 71	Spastic gait, Babinski sign, Lower limb spasticity, Abnormal myelination, Hand tremor, Progressiv...	ORPHA:401840
Pelizaeus-Merzbacher Disease	Optic atrophy, Generalized dystonia, Cerebral dysmyelination, Writer's cramp, Sudanophilic leukod...	OMIM:312080
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Abnormality of extrapyramidal motor function, Chorea, Spasticity, Decreased body weight, Rigidity...	OMIM:617672
Spondylocostal Dysostosis 6, Autosomal Recessive	Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis	OMIM:616566
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Gait ataxia, Vocal cord paresis, Basal lamina onion bulb formation, Decreased number of periphera...	OMIM:614895
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal pyramidal sign, Leukodystrophy, Peripheral demyelination	DECIPHER:59
Episodic Ataxia, Type 1	Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech	OMIM:160120
Peroxisome Biogenesis Disorder 8B	Optic atrophy, Babinski sign, Hypertonia, Lower limb spasticity, Spasticity, Frequent falls, Gait...	OMIM:614877
Leukoencephalopathy, Brain Calcifications, And Cysts	Abnormality of extrapyramidal motor function, Spasticity, Tremor, Dystonia, Ataxia, Abnormal pyra...	OMIM:614561
Spastic Paraplegia With Neuropathy And Poikiloderma	Spastic paraplegia, Demyelinating sensory neuropathy, Onion bulb formation, Demyelinating motor n...	OMIM:182815
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de...	OMIM:606482
Paraparetic Variant Of Guillain-Barré Syndrome	Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis	ORPHA:231445
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech	OMIM:613227
Null Syndrome	Optic atrophy, Demyelinating peripheral neuropathy, Peripheral demyelination, Ataxia, CNS hypomye...	ORPHA:280234
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Dystonia, Peripheral demyelination	OMIM:250850
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Babinski sign, Apraxia, Abnormal upper motor neuron morphology, Gliosis, Spasticity, Myoclonus, P...	OMIM:221770
Neuropathy, Hereditary, With Liability To Pressure Palsies	Vocal cord paralysis, Segmental peripheral demyelination/remyelination	OMIM:162500
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Primary Orthostatic Tremor	Abnormality of extrapyramidal motor function, Tremor	ORPHA:238606
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Babinski sign, Frequent falls, Hand tremor, Onion bulb formation, Peripheral demyelination	OMIM:618279
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Axonal degeneration, Fasciculations, Gliosis, Tetraplegia, Decreased number of peripheral myelina...	OMIM:604484
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Peripheral axonal neuropathy, Axonal degeneration/regeneration, Onion bulb formation, Peripheral ...	OMIM:620378
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Autosomal Spastic Paraplegia Type 58	Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, Tremor, Tituba...	ORPHA:397946
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Peripheral axonal neuropathy, Spasticity, Tremor, Ataxia	OMIM:611105
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Babinski sign, Hypertonia, Spasticity, Tremor, Decreased number of peripheral myel...	OMIM:609260
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Neuromyelitis Optica Spectrum Disorder	Paraplegia, Myelitis, Peripheral demyelination	ORPHA:71211
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Hypertrophic nerve changes, Gait ataxia, Ataxia, Onion bulb formation, Segmental peripheral demye...	OMIM:601098
Vertebral Hypoplasia With Lumbar Kyphosis	Vertebral hypoplasia, Lumbar kyphosis	OMIM:192900
Charcot-Marie-Tooth Disease, Type 4K	Dystonia, Ataxia, Peripheral demyelination, Axonal loss	OMIM:616684
Spinocerebellar Ataxia Type 43	Limb ataxia, Progressive cerebellar ataxia, Peripheral axonal neuropathy, Cogwheel rigidity, Gait...	ORPHA:497764
Tremor, Hereditary Essential, 6	Head tremor, Postural tremor, Kinetic tremor, Vocal tremor, Leukodystrophy	OMIM:618866
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Segmental peripheral demyelination, Axonal degeneration/regeneration, Onion bulb formation, Segme...	OMIM:606483
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Vocal cord paresis, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal deg...	OMIM:607706
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Paralysis, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism	OMIM:105500
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	Reduced bone mineral density, Abnormal aortic valve morphology, Abnormal hip bone morphology, Cra...	ORPHA:577
Charcot-Marie-Tooth Disease, Type 4A	Axonal degeneration, Hypertrophic nerve changes, Basal lamina onion bulb formation, Decreased num...	OMIM:214400
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Chronic axonal neuropathy, Decreased number of small peripheral myelinated nerve fibers, Frequent...	ORPHA:101097
Hypertrophic Neuropathy Of Dejerine-Sottas	Hypertrophic nerve changes, Tongue fasciculations, Peripheral demyelination, Myelin tomacula, Dec...	OMIM:145900
Winchester Syndrome	Carpal osteolysis, Corneal opacity, Broad metacarpals, Generalized osteoporosis, Osteolysis invol...	OMIM:277950
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Gait ataxia, CNS demyelination, Hemiplegia/hemiparesis, Parkinsoni...	ORPHA:217260
Sandhoff Disease, Adult Form	Fasciculations, Sensory axonal neuropathy, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia	ORPHA:309169
Primary Dystonia, Dyt27 Type	Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Upper limb ...	ORPHA:464440
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Hypertonia, Decreased number of peripheral myelinated nerve fibers, Clumsiness, Tetraparesis, Slu...	ORPHA:2386
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Babinski sign, Spastic tetraparesis, Gait ataxia, CNS demyelination, Peripheral demyelination	OMIM:249900
Neuropathy, Hereditary Motor And Sensory, Russe Type	Paralysis, Peripheral hypomyelination, Axonal regeneration, Decreased number of large peripheral ...	OMIM:605285
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Onion bulb fo...	OMIM:118200
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metaphysis morphology, Reduced bone mineral density, Clinodactyly of the 5th finger, Abn...	ORPHA:2370
Subacute Inflammatory Demyelinating Polyneuropathy	Demyelinating motor neuropathy, Tremor, Symmetric peripheral demyelination, Diffuse peripheral de...	ORPHA:206594
Dystonia 27	Oromandibular dystonia, Writer's cramp, Torticollis, Limb dystonia, Action tremor, Postural tremo...	OMIM:616411
Spinocerebellar Ataxia Type 15/16	Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A...	ORPHA:98769
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Peripheral axonal neuropathy, Facial palsy, Decreased number of peripheral myelinated nerve fiber...	OMIM:118210
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Spastic Paraplegia 55, Autosomal Recessive	Optic atrophy, Babinski sign, Lower limb spasticity, Peripheral axonal neuropathy, Knee clonus, S...	OMIM:615035
Pseudohypoaldosteronism, Type Iib	Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia	OMIM:614495
Slowed Nerve Conduction Velocity, Autosomal Dominant	Onion bulb formation, Peripheral demyelination	OMIM:608236
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Diabetes insipidus, Hyposthenuria, Neuroge...	OMIM:615926
Spinocerebellar Ataxia 43	Limb ataxia, Tremor, Gait ataxia, Rigidity, Ataxia	OMIM:617018
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Pseudohypoaldosteronism, Type Iie	Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia	OMIM:614496
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Onion bulb fo...	OMIM:118220
Charcot-Marie-Tooth Disease, Type 4C	Axonal degeneration, Abnormal cranial nerve morphology, Tongue fasciculations, Facial palsy, Basa...	OMIM:601596
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Decreased circulating renin level, Pseudohypoaldosteronism, Hyperchloremia	OMIM:614492
Optic Atrophy 3, Autosomal Dominant	Abnormality of extrapyramidal motor function, Optic atrophy, Tremor, Optic disc pallor	OMIM:165300
Glut1 Deficiency Syndrome 1	Babinski sign, Paroxysmal dystonia, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreo...	OMIM:606777
Krabbe Disease	Optic atrophy, Hypertonia, Decerebrate rigidity, Progressive spasticity, CNS demyelination, Failu...	OMIM:245200
Primary Dystonia, Dyt13 Type	Generalized dystonia, Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involu...	ORPHA:98807
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polyuria, Diabetes insipidus, Hypernatremia, Failure to thrive, Megacystis	OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polyuria, Nephrogenic diabetes insipidus, Hypernatremia, Failure to thrive, Megacystis	OMIM:125800
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Spinocerebellar Ataxia, Autosomal Recessive 4	Babinski sign, Torticollis, Fasciculations, Peripheral axonal neuropathy, Spasticity, Tremor, Fre...	OMIM:607317
Epilepsy, Progressive Myoclonic, 1B	Babinski sign, Sensory axonal neuropathy, Tremor, Ataxia, Myoclonus, Dysmetria	OMIM:612437
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination	OMIM:607791
Spinocerebellar Ataxia 20	Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor	OMIM:608687
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Axonal regeneration, Onion bulb formation, Peripheral demyelination	OMIM:615185
Spinocerebellar Ataxia 38	Limb ataxia, Peripheral axonal neuropathy, Tremor, Gait ataxia, Ataxia, Myoclonus	OMIM:615957
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Babinski sign, Peripheral hypomyelination, Axonal degeneration, Chorea, Ataxia, Peripheral axonal...	OMIM:604168
Lethal Congenital Contracture Syndrome 8	Peripheral hypomyelination, Facial diplegia, Vocal cord paralysis	OMIM:616287
Porphyria, Acute Hepatic	Paralysis, Failure to thrive, Respiratory paralysis	OMIM:612740
Segawa Syndrome, Autosomal Recessive	Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop...	OMIM:605407
Classic Glucose Transporter Type 1 Deficiency Syndrome	Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Dystonia, Ataxia, Extrapyramidal dyskinesia...	ORPHA:71277
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Babinski sign, Gliosis, Spasticity, Symmetric peripheral demyelination, Ataxia, Leukodystrophy, P...	OMIM:169500
Dystonia 3, Torsion, X-Linked	Chorea, Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication...	OMIM:314250
Charcot-Marie-Tooth Disease, Type 4J	Peripheral hypomyelination, Onion bulb formation, Frequent falls, Axonal loss	OMIM:611228
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Large for gestational age, Microcornea, Hepatomegaly, Corneal opacity	ORPHA:2432
Monomelic Amyotrophy	Degeneration of anterior horn cells, Tremor, Fasciculations	ORPHA:65684
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Tremor, Dystonia, Ataxia, Spinocerebellar tract degeneration, Leukodystrop...	OMIM:617916
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination	OMIM:311070
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus	ORPHA:401901
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Onion bulb formation	OMIM:616039
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Ketonuria, Elevated urine acetoacetic acid level, Jaundice, 3-hydroxyisovaleric aciduria, Abnorma...	OMIM:615751
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Abnormal cranial nerve morphology, Peripheral hypomyelination, Onion bulb formation	OMIM:605253
Glucose-Galactose Malabsorption	Hematuria, Nephrolithiasis, Hypernatremia, Failure to thrive, Hypercalcemia, Weight loss, Renal i...	ORPHA:35710
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers	OMIM:607677
Leukodystrophy, Hypomyelinating, 11	Spasticity, Tremor, Failure to thrive, Ataxia, Myoclonus, CNS hypomyelination, Leukodystrophy	OMIM:616494
Tremor, Hereditary Essential, 1	Action tremor, Hand tremor, Postural tremor	OMIM:190300
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Axonal regeneration, Decreased number of peripheral myelinated nerve fibers	OMIM:607731
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Sensory axonal neuropathy, Babinski sign, Motor axonal neuropathy, Decreased number of peripheral...	OMIM:620542
Spinocerebellar Ataxia Type 25	Babinski sign, Spastic dysarthria, Progressive cerebellar ataxia, Gait ataxia, Decreased number o...	ORPHA:101111
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Acute demyelinating polyneuropathy, Onion bulb formation	ORPHA:98916
Myoclonus, Familial, 1	Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus	OMIM:614937
Parkinson Disease 15, Autosomal Recessive Early-Onset	Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m...	OMIM:260300
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Tremor, Vocal cord paralysis	OMIM:158580
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Peripheral demyelination, Onion bulb formation, Decreased number of large peripheral myelinated n...	OMIM:608340
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers	OMIM:608673
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paralysis	OMIM:608634
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Nephrogenic Diabetes Insipidus	Hydroureter, Hyposthenuria, Enuresis nocturna, Nephrogenic diabetes insipidus, Functional abnorma...	ORPHA:223
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia	OMIM:618425
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Babinski sign, Axonal degeneration, Incoordination, Tremor, Frequent falls, Paraparesis, Decrease...	OMIM:302800
Spinocerebellar Ataxia Type 20	Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l...	ORPHA:101110
Acute Bilirubin Encephalopathy	Conjunctival icterus, Hemolytic anemia, Hypernatremia, Prolonged neonatal jaundice, Neonatal hype...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Conjunctival icterus, Hemolytic anemia, Hypernatremia, Prolonged neonatal jaundice, Neonatal hype...	ORPHA:529808
Spinocerebellar Ataxia Type 31	Spasticity, Tremor, Gait ataxia	ORPHA:217012
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Tremor, Hippocampal sclerosis, Myoclonus	OMIM:615400
Spinocerebellar Ataxia 40	Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Ankle clonus, Spastic parapare...	OMIM:616053
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Charcot-Marie-Tooth Disease, Type 4H	Peripheral hypomyelination, Onion bulb formation, Decreased number of peripheral myelinated nerve...	OMIM:609311
Adult Krabbe Disease	Hoffmann sign, Babinski sign, Spasticity, Upper motor neuron dysfunction, Frequent falls, CNS dem...	ORPHA:206448
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Spinocerebellar Ataxia 37	Tremor, Ataxia, Frequent falls	OMIM:615945
Brachyolmia Type 1, Hobaek Type	Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Flat acetabu...	OMIM:271530
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Failure to thrive, Tremor, Dystonia, Myoclonus	OMIM:619651
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Hyperintensity of MRI T2 signal of the spinal cord, Ataxia, Peripheral demyelination	OMIM:609033
Spinocerebellar Ataxia 18	Babinski sign, Sensory axonal neuropathy, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dy...	OMIM:607458
Dystonia 11, Myoclonic	Writer's cramp, Tremor, Torticollis, Myoclonus	OMIM:159900
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Spastic Ataxia 5, Autosomal Recessive	Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Dystonia, Ataxia, Spastic ataxia, Myoclonus, ...	OMIM:614487
Chronic Inflammatory Demyelinating Polyneuropathy	Peripheral demyelination, Segmental peripheral demyelination/remyelination	ORPHA:2932
Acrodysplasia Scoliosis	Scoliosis, Vertebral segmentation defect, Spina bifida occulta	ORPHA:2956
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Parkinsonism With Spasticity, X-Linked	Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism	OMIM:300911
Atypical Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction...	ORPHA:216873
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Axonal degeneration/regeneration, Peripheral demyelination	OMIM:607736
Pandas	Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E...	ORPHA:66624
Dyskinesia, Limb And Orofacial, Infantile-Onset	Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls	OMIM:616921
Spastic Paraparesis And Deafness	Spastic paraparesis, Tremor	OMIM:312910
Dystonia, Dopa-Responsive	Bradykinesia, Babinski sign, Torticollis, Writer's cramp, Resting tremor, Incoordination, Spastic...	OMIM:128230
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Axonal degeneration/regeneration, Peripheral axonal atrophy, Onion bulb formation, Decreased numb...	OMIM:605588
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Paralysis, Peripheral axonal neuropathy	OMIM:613710
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Fasciculations, Axonal degeneration/regeneration, Peripheral axonal atrophy, Decreased number of ...	OMIM:600882
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Thrombocytopenia, Hepatomegaly, Corneal opacity	ORPHA:1980
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Multiple muscular ventricular septal defects, Pulmonic stenosis, Hypernatremia, Failure to thrive...	OMIM:615508
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Apraxia, Tetraparesis, Gliosis, Paraparesis, Extrapyramidal dyskinesia, Parkinsonism, Abnormal lo...	OMIM:105550
Neuroleptic Malignant Syndrome	Hyperkalemia, Acute kidney injury, Urinary incontinence, Hyperuricemia, Hypocalcemia, Myoglobinur...	ORPHA:94093
Charcot-Marie-Tooth Disease, Type 4B2	Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Segmental periphera...	OMIM:604563
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Hemiballismus, Frequent falls, Tremor, Chorea	ORPHA:494526
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Limitation of joint mo...	ORPHA:93476
Adrenal Hypoplasia, Congenital	Renal salt wasting, Delayed puberty, Adrenal hypoplasia, Precocious puberty, Hyponatremia, Failur...	OMIM:300200
Mirage Syndrome	Hyperkalemia, Rocker bottom foot, Radial club hand, Hypospadias, Anemia, Adrenal hypoplasia, Decr...	OMIM:617053
Spastic Paraplegia 11, Autosomal Recessive	Spastic gait, Babinski sign, Lower limb spasticity, Knee clonus, Spastic paraplegia, Obesity, Ata...	OMIM:604360
Abetalipoproteinemia	CNS demyelination, Ataxia, Peripheral demyelination	OMIM:200100
Mucous Membrane Pemphigoid	Atypical scarring of skin, Corneal opacity	ORPHA:46486
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased number of large periphe...	OMIM:617087
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Babinski sign, Sensory axonal neuropathy, Spasticity, Clonus, Spastic paraplegia, Abnormal spinal...	ORPHA:139578
Tremor, Hereditary Essential, 5	Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor	OMIM:616736
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Fasciculations, Tremor	OMIM:182980
Pyruvate Carboxylase Deficiency	Hypertaurinemia, Elevated plasma citrulline, Hepatomegaly, Hyperglutamatemia, Lacticaciduria, Inc...	ORPHA:3008
Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Corneal opacity, Osteoporosis, Splenomegaly, Flexion contracture, ...	ORPHA:87876
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Dystonia, Frequent falls, Myoclonus	OMIM:619647
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor	OMIM:611808
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyperkalemia, Renal salt wasting, Abnormal circulating renin, Congenital hypothyroidism, Precocio...	OMIM:614736
Corticosterone Methyloxidase Type Ii Deficiency	Hyperkalemia, Renal salt wasting, Increased circulating corticosterone level, Increased circulati...	OMIM:610600
Adult Neuronal Ceroid Lipofuscinosis	Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign...	ORPHA:79262
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Axonal regeneration, Onion bulb formation	OMIM:608323
Alpha-Mannosidosis	Hepatomegaly, Craniofacial hyperostosis, Inguinal hernia, Arthritis, Corneal opacity, Bowing of t...	ORPHA:61
Metachromatic Leukodystrophy	Optic atrophy, Babinski sign, Chorea, Tetraplegia, Dystonia, Ataxia, Spastic tetraplegia, Periphe...	OMIM:250100
Ophthalmomandibulomelic Dysplasia	Abnormality of bone mineral density, Corneal opacity, Synostosis of carpal bones, Megalocornea, L...	ORPHA:2741
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
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Metacarpal osteolysis, Congenital diaphragmatic hernia, Carpal osteolysis, Corneal op...	OMIM:166300
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Corneal opacity, Hypertrophic cardiomyopathy, Developmental cataract, Flexion contra...	OMIM:618815
Giant Axonal Neuropathy 2, Autosomal Dominant	Peripheral axonal neuropathy, Onion bulb formation	OMIM:610100
Spinocerebellar Ataxia 23	Limb ataxia, Babinski sign, Tremor, Gait ataxia, CNS demyelination, Dysmetria	OMIM:610245
Neuropathy, Congenital Hypomyelinating, 2	Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers	OMIM:618184
Stxbp1-Related Encephalopathy	Spasticity, Tremor, Delayed myelination, Dystonia, Ataxia, Spastic tetraplegia	ORPHA:599373
Bartter Syndrome, Type 5, Antenatal, Transient	Polyuria, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia, Increased circu...	OMIM:300971
Hyperphenylalaninemia, Bh4-Deficient, D	Hypertonia, Tremor	OMIM:264070
Developmental And Epileptic Encephalopathy 14	Gliosis, Spasticity, Tetraplegia, Clonus, Delayed CNS myelination	OMIM:614959
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyperkalemia, Renal salt wasting, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, ...	OMIM:264350
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Decreased glomerular filtration rate...	OMIM:613090
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:610297
Autosomal Dominant Spastic Ataxia Type 1	Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Lower limb spasticity, ...	ORPHA:251282
Charcot-Marie-Tooth Disease Type 4G	Demyelinating peripheral neuropathy, Peripheral axonal neuropathy, Peripheral demyelination	ORPHA:99953
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Peripheral axonal neuropathy, Tremor, Ataxia	OMIM:619099
Spastic Ataxia 2, Autosomal Recessive	Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head...	OMIM:611302
Anencephaly 2	Anophthalmia	OMIM:619452
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Polyuria, Hypokalemia, Hypocalcemia, Hyponatremia, Nephrocalcinosis, Hypomagnesemia, Dilated card...	OMIM:620152
Spinocerebellar Ataxia 48	Babinski sign, Chorea, Cachexia, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysmetria	OMIM:618093
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Optic atrophy, Babinski sign, Sensory axonal neuropathy, Poor fine motor coordination, Vocal cord...	ORPHA:99947
Wolcott-Rallison Syndrome	Hepatomegaly, Jaundice, Iron deficiency anemia, Neonatal insulin-dependent diabetes mellitus, Lym...	ORPHA:1667
Frontotemporal Dementia With Motor Neuron Disease	Babinski sign, Progressive cerebellar ataxia, Apraxia, Abnormal upper motor neuron morphology, Fa...	ORPHA:275872
Bartter Syndrome, Type 1, Antenatal	Renal potassium wasting, Increased serum prostaglandin E2, Nephrocalcinosis, Hyperaldosteronism, ...	OMIM:601678
Corticosterone Methyloxidase Type I Deficiency	Hyperkalemia, Renal salt wasting, Increased circulating renin level, Hyponatremia, Failure to thr...	OMIM:203400
Charcot-Marie-Tooth Disease, Type 4B1	Facial palsy, Myelin outfoldings, Irregular myelin loops	OMIM:601382
Central Diabetes Insipidus	Diabetes insipidus, Hyponatremia, Failure to thrive, Nocturia, Weight loss	ORPHA:178029
Diarrhea 1, Secretory Chloride, Congenital	Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased circulating renin lev...	OMIM:214700
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Increased body weight, Osteoporosis, Adrenal hyperplasia, Dorsocervical fat pad, Diab...	OMIM:615830
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Isosexual precocious puberty, Abnormal femoral neck/head morphology, Crumpled long bo...	ORPHA:2788
Cystinosis	Rickets, Delayed puberty, Hypokalemia, Corneal opacity, Nephropathy, Portal hypertension, Nephrog...	ORPHA:213
Late-Onset Familial Hypoaldosteronism	Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas...	ORPHA:556037
Lattice Corneal Dystrophy Type I	Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification...	ORPHA:98964
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Recurrent tonsillitis, Cholelithiasis, Glucocortocoid-insensitive primary hyperaldo...	ORPHA:171876
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis	OMIM:615924
Spinocerebellar Ataxia Type 12	Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Intention tremor, Action t...	ORPHA:98762
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo...	ORPHA:91354
Hypoadrenocorticism, Familial	Hyperkalemia, Hyponatremia, Adrenal hypoplasia, Adrenal insufficiency	OMIM:240200
Galactosialidosis	Corneal opacity	ORPHA:351
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat...	ORPHA:314632
Leukodystrophy, Hypomyelinating, 5	Babinski sign, Truncal titubation, Intention tremor, Abnormal pyramidal sign, CNS hypomyelination...	OMIM:610532
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Tremor, Ataxia, Small for gestational age	OMIM:278780
Hyperchlorhidrosis, Isolated	Hyperkalemia, Hyponatremia, Failure to thrive	OMIM:143860
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, B lymp...	OMIM:619381
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Early-Onset Familial Hypoaldosteronism	Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas...	ORPHA:556030
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Limb ataxia, Oculomotor apraxia, Axonal degeneration, Truncal ataxia, Chorea, Tremor, Gait ataxia...	OMIM:208920
Spinocerebellar Ataxia, Autosomal Recessive 2	Limb ataxia, Incoordination, Gliosis, Tremor, Spasticity, Gait ataxia, Ataxia, Dysmetria	OMIM:213200
Glutaric Acidemia I	Symmetrical progressive peripheral demyelination, Delayed myelination, Failure to thrive, Rigidit...	OMIM:231670
Spinocerebellar Ataxia, Autosomal Recessive 16	Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Ankle clonus	OMIM:615768
Congenital Rubella Syndrome	Abnormal metaphysis morphology, Hepatomegaly, Jaundice, Anemia, Aplasia/Hypoplasia of the iris, C...	ORPHA:290
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Demyelinating sensory neuropathy, Peripheral axonal neuropathy, Tremor, Gait ataxia, Ataxia, Dysm...	OMIM:618387
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Jaundice, Hemophagoc...	OMIM:267700
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Peripheral hypomyelination, Chorea, Intention tremor, Ataxia, Abnormal pyramidal sign, Dysmetria	ORPHA:48431
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Increased circulatin...	OMIM:177735
Dystonia 28, Childhood-Onset	Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial dystonia, Dyst...	OMIM:617284
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ...	ORPHA:521406
Intellectual Developmental Disorder, X-Linked 104	Optic atrophy, Spasticity, Tremor, Ataxia, Delayed CNS myelination	OMIM:300983
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Motor stereotypy, Anophthalmia	ORPHA:411986
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Facial palsy, Onion bulb formation, Frequent falls	OMIM:607684
Machado-Joseph Disease Type 3	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra...	ORPHA:276244
Spinocerebellar Ataxia 7	Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ...	OMIM:164500
Renal Hypoplasia, Bilateral	Hyperkalemia, Astigmatism, Anemia, Decreased glomerular filtration rate, Vesicoureteral reflux, B...	ORPHA:97362
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:607688
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen,...	OMIM:613845
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Eyelid myoclonus, Tremor, Limb myoclonus, Frequent falls, Myoclonus, Clumsiness, Abnormal lower m...	ORPHA:2590
Spinocerebellar Ataxia 17	Bradykinesia, Limb ataxia, Apraxia, Chorea, Gliosis, Gait ataxia, Intention tremor, Rigidity, Dys...	OMIM:607136
Amyotrophic Lateral Sclerosis 4, Juvenile	Babinski sign, Axonal degeneration, Pallor of dorsal columns of the spinal cord, Atrophy of the s...	OMIM:602433
Huntington Disease	Bradykinesia, Chorea, Gliosis, Gait ataxia, Rigidity	OMIM:143100
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Congenital hip dislocat...	OMIM:617913
Hartsfield Syndrome	Hypospadias, Diabetes insipidus, Ectrodactyly, Gonadotropin deficiency, Hypernatremia, Syndactyly...	OMIM:615465
Myoclonic-Atonic Epilepsy	Eyelid myoclonus, Tremor, Ataxia, Delayed CNS myelination	OMIM:616421
Leukodystrophy, Hypomyelinating, 6	Optic atrophy, Oculomotor apraxia, Spasticity, Tremor, Rigidity, Dystonia, Ataxia, Choreoathetosi...	OMIM:612438
Progressive Supranuclear Palsy-Corticobasal Syndrome	Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w...	ORPHA:240103
Alg8-Cdg	Anemia, Camptodactyly, Hyponatremia, Failure to thrive, Thrombocytopenia, Brachydactyly, Cataract...	ORPHA:79325
Familial Glucocorticoid Deficiency	Hyperkalemia, Renal salt wasting, Decreased circulating dehydroepiandrosterone concentration, Hyp...	ORPHA:361
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Generalized bone demineralization, Hypoparathyroidism, Macrocytic anemia, Hype...	ORPHA:199299
Cystinosis, Nephropathic	Recurrent corneal erosions, Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, R...	OMIM:219800
Gracile Bone Dysplasia	Aniridia, Slender long bone, Hypocalcemia, Flared metaphysis, Thin ribs, Decreased skull ossifica...	OMIM:602361
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers	OMIM:607080
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypernatremia, Hyperglycinemia, Thrombocytopenia, Partial atrioventricular canal defect	OMIM:620423
Lethal Congenital Contracture Syndrome 7	Paralysis, Facial diplegia	OMIM:616286
Basal Ganglia Calcification, Idiopathic, 1	Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Rigidity, Dystonia, Parkinsonism, Li...	OMIM:213600
Hereditary Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Babinski sign, Abnormal CNS myelination, Tremor, Spastic paraplegia, Failure to thrive	ORPHA:477673
Legionnaires Disease	Myocarditis, Jaundice, Hematuria, Pancreatitis, Lymphadenopathy, Renal insufficiency, Hepatitis, ...	ORPHA:549
Striatal Degeneration, Autosomal Dominant 1	Bradykinesia, Dysdiadochokinesis, Tremor, Rigidity, Slurred speech	OMIM:609161
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Tremor, Facial palsy, Frequent falls, Myoclonus, Degeneration of anterior ...	OMIM:159950
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia, Abnormal salivary gland morphology	ORPHA:3225
Congenital Isolated Acth Deficiency	Adrenal hypoplasia, Hyponatremia, Prolonged neonatal jaundice, Decreased circulating cortisol lev...	ORPHA:199296
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Peripheral axonal neuropathy, Ataxia, Decreased number of peripheral myelinated nerve fibers	OMIM:607250
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Absence of secondary sex characteristics, Reduced bone mineral density, Hypernat...	ORPHA:289548
Corticobasal Syndrome	Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo...	ORPHA:454887
Spinocerebellar Ataxia Type 37	Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cogwheel rigidity, Limb dysmetria	ORPHA:363710
Autosomal Recessive Spastic Paraplegia Type 35	Optic atrophy, Babinski sign, Oculomotor apraxia, Lower limb spasticity, Dysdiadochokinesis, Spas...	ORPHA:171629
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyperkalemia, Renal salt wasting, Increased circulating androstenedione concentration, Penoscrota...	ORPHA:90791
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Scoliosis, Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae	ORPHA:1436
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Optic atrophy, Babinski sign, Sensory axonal neuropathy, Athetosis, Involuntary movements, Ataxia...	OMIM:271245
Charcot-Marie-Tooth Disease Type 4A	Chronic axonal neuropathy, Demyelinating peripheral neuropathy, Poor gross motor coordination, Po...	ORPHA:99948
Addison Disease	Delayed puberty, Generalized bone demineralization, Decreased circulating cortisol level, Type I ...	ORPHA:85138
Pheochromocytoma/Paraganglioma Syndrome 2	Vagal paraganglioma, Vocal cord paralysis, Glomus tympanicum paraganglioma, Glomus jugular tumor,...	OMIM:601650
Mietens Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Clinodactyly of the...	ORPHA:2557
Spastic Ataxia, Charlevoix-Saguenay Type	Spastic gait, Babinski sign, Spasticity, Upper motor neuron dysfunction, Progressive truncal atax...	OMIM:270550
Parkinsonism-Dystonia 1, Infantile-Onset	Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor...	OMIM:613135
Charcot-Marie-Tooth Disease, Type 4D	Onion bulb formation, Axonal loss, Frequent falls, Segmental peripheral demyelination/remyelination	OMIM:601455
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Absence of secondary sex characteristics, Reduced bone mineral density, Hypernat...	ORPHA:168558
Mucopolysaccharidosis, Type Ivb	Grayish enamel, Genu valgum, Hepatomegaly, Inguinal hernia, Keratan sulfate excretion in urine, C...	OMIM:253010
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Osteoporo...	OMIM:219080
Juvenile Nephropathic Cystinosis	Proximal tubulopathy, Renal Fanconi syndrome, Corneal crystals, Hypophosphatemia, Elevated circul...	ORPHA:411634
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Ataxia, Myoclonus	OMIM:615362
Hereditary Coproporphyria	Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Porphyrinuria, Hep...	ORPHA:79273
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Cogwheel rigidity, Gait...	OMIM:600116
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Corneal opacity, Persistent pupillary membrane, Abnormal heart morphology, Cataract, Aplasia/Hypo...	ORPHA:1067
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Erythrokeratodermia Variabilis	Corneal opacity, Abnormal testis morphology, Brachydactyly, Weight loss, Cataract, Diabetes melli...	ORPHA:317
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Bradykinesia, Apraxia, Gliosis, Spasticity, CNS demyelination, Rigidity, Parkinsonism	OMIM:221820
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Optic atrophy, Babinski sign, Hypertonia, Progressive cerebellar ataxia, Truncal ataxia, Poor fin...	ORPHA:137898
Hyperphenylalaninemia, Bh4-Deficient, C	Hypertonia, Tremor, Dystonia, Myoclonus, Choreoathetosis	OMIM:261630
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Abnormality of extrapyramidal motor function, Peripheral axonal neuropathy, Exagge...	ORPHA:320406
Primary Dystonia, Dyt2 Type	Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involuntary movements, Gener...	ORPHA:99657
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Decreased glomerular filtration rate...	OMIM:602522
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Hypothyroidism, Hyponatremia, Hashimoto thyroiditis, Thrombocytopenia, Goiter	ORPHA:83601
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Peripheral axonal neuropathy, Vocal cord paralysis, Decreased number of peripheral myelinated ner...	OMIM:615490
Spinocerebellar Ataxia Type 14	Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus	ORPHA:98763
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop...	OMIM:603553
Thiel-Behnke Corneal Dystrophy	Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop...	ORPHA:98960
Multicentric Osteolysis, Nodulosis, And Arthropathy	Ankylosis of feet small joints, Thin metacarpal cortices, Corneal opacity, Wrist flexion contract...	OMIM:259600
Hurler Syndrome	Calvarial hyperostosis, Cardiomyopathy, Corneal opacity, Flared iliac wing, Dermatan sulfate excr...	OMIM:607014
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre...	ORPHA:3453
Dystonia 12	Bradykinesia, Torticollis, Tremor, Dystonia, Parkinsonism	OMIM:128235
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short ribs, Short long bone, Corneal opacity, Coarse metaphyseal trabecularization, Metaphyseal w...	OMIM:618961
Spastic Paraplegia 6, Autosomal Dominant	Spastic gait, Babinski sign, Lower limb spasticity, Tremor, Clonus, Spastic paraplegia	OMIM:600363
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Rocker bottom foot, Corneal opacity, Pulmonic stenosis, Leukopenia, Craniosynostosis, Coxa valga,...	OMIM:301056
Bartter Syndrome Type 4	Renal salt wasting, Acute kidney injury, Severe failure to thrive, Hypokalemia, Hyperprostaglandi...	ORPHA:89938
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Gait ...	ORPHA:90103
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hyperprostaglandinuria, ...	OMIM:241200
Alg12-Cdg	Abnormal bone ossification, Proximal placement of thumb, Sandal gap, Short long bone, Hypocholest...	ORPHA:79324
Sanjad-Sakati Syndrome	Astigmatism, Hypoparathyroidism, Congenital hypoparathyroidism, Hypoplasia of penis, Hypocalcemia...	ORPHA:2323
Cataract 21, Multiple Types	Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I...	OMIM:610202
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Charcot-Marie-Tooth Disease Type 2B1	Axonal degeneration, Sensory axonal neuropathy, Decreased number of peripheral myelinated nerve f...	ORPHA:98856
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Peripheral hypomyelination, Cerebral dysmyelination, Torticollis, Demyelinating peripheral neurop...	OMIM:609136
Mucopolysaccharidosis Type 4	Abnormal metaphysis morphology, Grayish enamel, Reduced bone mineral density, Genu valgum, Abnorm...	ORPHA:582
Machado-Joseph Disease Type 1	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra...	ORPHA:276238
Machado-Joseph Disease Type 2	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra...	ORPHA:276241
Al-Gazali Syndrome	Osteopenia, Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Corne...	OMIM:609465
Variegate Porphyria	Paralysis	OMIM:176200
Molybdenum Cofactor Deficiency, Complementation Group B	Hypertonia, Gliosis, Myoclonic spasms, Opisthotonus, Spastic tetraplegia, Peripheral demyelinatio...	OMIM:252160
Panhypophysitis	Central diabetes insipidus, Normochromic anemia, Reduced circulating prolactin concentration, Hyp...	ORPHA:95513
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Hereditary Neuropathy With Liability To Pressure Palsies	Vocal cord paralysis	ORPHA:640
Familial Dysautonomia	Corneal erosion, Abnormal peritoneum morphology, Recurrent fractures, Corneal opacity, Heterochro...	ORPHA:1764
Carpenter Syndrome 1	Flared iliac wing, Pulmonic stenosis, Duplication of the proximal phalanx of the hallux, Umbilica...	OMIM:201000
Neural Tube Defects, Susceptibility To	Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	OMIM:182940
Short Syndrome	Abnormal anterior chamber morphology, Inguinal hernia, Abnormal dental enamel morphology, Corneal...	ORPHA:3163
Spinocerebellar Ataxia 25	Babinski sign, Ataxia, Decreased number of peripheral myelinated nerve fibers, Oculomotor apraxia	OMIM:608703
Dystonia 13, Torsion, Autosomal Dominant	Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim...	OMIM:607671
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Demyelinating peripheral neuropathy, Peripheral axonal neuropathy, Facial diplegia, Tremor, Limb ...	OMIM:218000
Hyperphenylalaninemia, Bh4-Deficient, A	Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Chor...	OMIM:261640
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Precocious puberty in females, Elevated urin...	ORPHA:90794
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr...	OMIM:300539
Adenohypophysitis	Reduced circulating prolactin concentration, Normochromic anemia, Hyposthenuria, Pituitary hypoth...	ORPHA:95512
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level	OMIM:620125
Acute Peripheral Arterial Occlusion	Paralysis	ORPHA:90064
Molybdenum Cofactor Deficiency, Complementation Group A	Gliosis, Spastic tetraparesis, Myoclonic spasms, Opisthotonus, Spastic tetraplegia, Peripheral de...	OMIM:252150
Machado-Joseph Disease	Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Facial-lingual fascicula...	OMIM:109150
Beta-Propeller Protein-Associated Neurodegeneration	Bradykinesia, Optic atrophy, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis	ORPHA:329284
Porphyria Due To Ala Dehydratase Deficiency	Ankle flexion contracture, Increased erythrocyte protoporphyrin concentration, Increased urinary ...	ORPHA:100924
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin...	OMIM:615157
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased number of large peripheral myelinated nerve fibers	OMIM:615376
Shigellosis	Myocarditis, Acute kidney injury, Urethritis, Hemolytic-uremic syndrome, Corneal ulceration, Arth...	ORPHA:810
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Bradykinesia, Limb hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Rigidity, Dystonia, Sma...	ORPHA:70594
Whipple Disease	Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Anemia, Cachexia, Arthritis, Hypothyroidi...	ORPHA:3452
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Progressive cerebellar ataxia, Sensory axonal neuropathy, Dysdiadochokinesis, Trem...	ORPHA:254881
Anterior Segment Dysgenesis 8	Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,...	OMIM:617319
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Decreased circulating ACTH concentration, Increased circulating cortisol level, Macronodular adre...	ORPHA:189427
Tangier Disease	Peripheral axonal neuropathy, Facial diplegia, Peripheral demyelination	OMIM:205400
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Corneal...	ORPHA:534
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyperkalemia, Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol respons...	OMIM:201810
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Lower limb spasticity, Spasticity, Obesity, Dystonia, Ataxia, Delayed peripheral myelination, Pro...	ORPHA:464282
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Familial Hyperaldosteronism Type I	Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia, Abnormal circulating renin, S...	ORPHA:403
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Chronic axonal neuropathy, Tongue fasciculations, Frequent falls, Decreased number of large perip...	OMIM:162400
Microcephaly 10, Primary, Autosomal Recessive	Hypertonia, Gliosis, Spasticity, Delayed CNS myelination, Small for gestational age	OMIM:615095
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Hematuria, Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma	ORPHA:1473
Morquio Syndrome C	Corneal opacity	OMIM:252300
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Bradykinesia, Hemiballismus, Hypertonia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidit...	OMIM:618877
Familial Hyperaldosteronism Type Ii	Hypokalemia, Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, G...	ORPHA:404
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Babinski sign, Spasticity, Tremor, Dystonia, Ataxia, Postural tremor, CNS hypomyel...	OMIM:607694
Multiple Sulfatase Deficiency	CNS demyelination, Spasticity, Ataxia, Peripheral demyelination	OMIM:272200
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Corneal opacity, Splenome...	ORPHA:79292
Familial Hyperaldosteronism Type Iii	Hypokalemia, Hypercalciuria, Abnormal circulating renin, Glucocortocoid-insensitive primary hyper...	ORPHA:251274
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus	OMIM:618587
Familial Hypoaldosteronism	Hyperkalemia, Renal salt wasting, Increased circulating renin level, Hyponatremia, Failure to thr...	ORPHA:427
Fish-Eye Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:136120
Brittle Cornea Syndrome 2	Inguinal hernia, Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocorn...	OMIM:614170
Parkinson Disease 7, Autosomal Recessive Early-Onset	Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ...	OMIM:606324
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Generalized bone demineralization, Nephrotic syndrome, Mucopolysaccha...	OMIM:215250
Trigeminal Neuralgia	CNS demyelination, Peripheral demyelination, Cranial nerve compression	ORPHA:221091
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Dystonia, Ataxia, Park...	OMIM:619725
Leigh Syndrome	Optic atrophy, Gliosis, Spasticity, CNS demyelination, Hepatocellular necrosis, Failure to thrive...	OMIM:256000
Intellectual Developmental Disorder, Autosomal Dominant 70	Cataract, Hyponatremia, Failure to thrive	OMIM:620157
Acute Adrenal Insufficiency	Hyperkalemia, Renal salt wasting, Normocytic anemia, Delayed puberty, Hyperuricemia, Adrenal hypo...	ORPHA:95409
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Hepatomegaly, Inguinal hernia, Increased serum beta-hexosaminidase, Short...	OMIM:252600
Parkinson Disease 17	Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism	OMIM:614203
Mucopolysaccharidosis Type 7	Diaphyseal undertubulation, Abnormal hip bone morphology, Inguinal hernia, Epiphyseal stippling, ...	ORPHA:584
Hyperkalemic Periodic Paralysis	Hyperkalemia, Hypokalemia, Elevated circulating creatine kinase concentration, Hyponatremia, Flex...	ORPHA:682
Brachyolmia Type 1, Toledo Type	Precocious costochondral ossification, Broad tibial metaphyses, Increased urinary disaccharide ex...	OMIM:271630
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Hypotriglyceridemia, Flared metaphysis, Short long bone, Metaphysea...	ORPHA:85167
Primary Angiitis Of The Central Nervous System	Paraparesis, Hemiparesis, Ataxia, Parkinsonism, Paralysis, Tetraparesis, Pseudopapilledema	ORPHA:140989
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Ataxia, Abnor...	OMIM:617145
Zellweger Syndrome	Hepatomegaly, Jaundice, Hypospadias, Epiphyseal stippling, Corneal opacity, Cryptorchidism, Failu...	ORPHA:912
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Axonal regeneration, Decreased number of peripheral myelinated nerve fibers	OMIM:607831
Huntington Disease-Like 1	Bradykinesia, Chorea, Gliosis, Incoordination, Poor fine motor coordination, Frequent falls, Gait...	ORPHA:157941
Spinocerebellar Ataxia 2	Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc...	OMIM:183090
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Ataxia, Dysmetria	OMIM:617917
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Delayed puberty, Abnormal ovarian morphology, Proximal tibial and fibular fus...	ORPHA:95699
Inherited Creutzfeldt-Jakob Disease	Bradykinesia, Babinski sign, Amyloidosis of peripheral nerves, Progressive cerebellar ataxia, Spa...	ORPHA:282166
Neurodegeneration With Brain Iron Accumulation 3	Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Laryngeal...	OMIM:606159
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia	OMIM:617836
Acth-Independent Macronodular Adrenal Hyperplasia 2	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight...	OMIM:615954
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma...	ORPHA:90793
Porphyria Variegata	Elevated urinary delta-aminolevulinic acid, Scarring, Anemia, Increased urinary porphobilinogen, ...	ORPHA:79473
Lipoid Congenital Adrenal Hyperplasia	Renal salt wasting, Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia	OMIM:201710
Lowry-Maclean Syndrome	Osteopenia, Congenital diaphragmatic hernia, Atrioventricular canal defect, Developmental glaucom...	ORPHA:2409
X-Linked Corneal Dermoid	Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperkalemia, Jaundice, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Hyponatremia, ...	ORPHA:90790
Snakebite Envenomation	Hypopituitarism, Hyponatremia, Thrombocytopenia, Acute kidney injury	ORPHA:449285
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis, Leukocytosis, Hyp...	ORPHA:247353
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur...	ORPHA:420485
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Spinocerebellar Ataxia Type 3	Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Vocal cord paralysis...	ORPHA:98757
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Optic atrophy, Babinski sign, Hypertonia, Peripheral axonal neuropathy, Tremor, Gait ataxia, Inte...	OMIM:616505
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Ventricular hypertrophy, Abnormal circulating renin, Nephrolithiasis, Adrenal hyperp...	ORPHA:369929
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Short ribs, Corneal opacity, Hypoplastic pelvis, Split foot, Umb...	ORPHA:2092
Cerebral Creatine Deficiency Syndrome 2	Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor...	OMIM:612736
Sheehan Syndrome	Breast hypoplasia, Central diabetes insipidus, Normochromic anemia, Reduced circulating prolactin...	ORPHA:91355
Charcot-Marie-Tooth Disease Type 1F	Limb ataxia, Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Fasciculations, Op...	ORPHA:101085
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hand tremor	OMIM:609153
4H Leukodystrophy	Optic atrophy, Cerebral hypomyelination, Abnormality of extrapyramidal motor function, Dysdiadoch...	ORPHA:289494
Sporadic Creutzfeldt-Jakob Disease	Babinski sign, Abnormality of extrapyramidal motor function, Astrocytosis, Gliosis, Spasticity, U...	ORPHA:204
Trisomy 13	Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia	ORPHA:3378
Pituitary Apoplexy	Mydriasis, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Nor...	ORPHA:95613
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Babinski sign, Hypertonia, Fasciculations, Sensory axonal neuropathy, Diaphragmatic paralysis, At...	ORPHA:466768
Infantile Neuronal Ceroid Lipofuscinosis	Chorea, Spasticity, Tremor, Poor fine motor coordination, Myoclonic spasms, Dystonia, Ataxia, Myo...	ORPHA:79263
Aicardi-Goutieres Syndrome 6	Rigidity, Tremor, Dystonia, Leukodystrophy	OMIM:615010
Glycosylphosphatidylinositol Biosynthesis Defect 15	Optic atrophy, Apraxia, Spasticity, Tremor, Gait ataxia, Dysmetria	OMIM:617810
Mucolipidosis Iv	Opacification of the corneal stroma, Hypergastrinemia, Corneal opacity	OMIM:252650
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Onion bulb formation, Axonal loss	OMIM:614455
Parkinsonism-Dystonia 2, Infantile-Onset	Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Dystonia, Ataxia, Parkinsonism	OMIM:618049
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Cerebral hypomyelination, Spasticity, Tremor, Dysdiadochokinesis, Gait ataxia, Int...	OMIM:614381
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Tremor, Ataxia, Myoclonus, Dysmetria	OMIM:619028
Charcot-Marie-Tooth Disease, Type 4B3	Onion bulb formation, Myelin outfoldings	OMIM:615284
Behr Syndrome	Optic atrophy, Babinski sign, Truncal ataxia, Sensory axonal neuropathy, Tremor, Progressive spas...	OMIM:210000
Lcat Deficiency	Hypertriglyceridemia, Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glo...	ORPHA:650
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Limb hypertonia, Spasticity, Tremor, Involuntary movements, Failure to thrive, Rig...	ORPHA:442835
Charcot-Marie-Tooth Disease Type 1B	Peripheral axonal neuropathy, Peripheral dysmyelination	ORPHA:101082
Harel-Yoon Syndrome	Developmental cataract, Corneal opacity, Hypertrophic cardiomyopathy, Hip dysplasia	OMIM:617183
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hypophosphatemic rickets, Horseshoe kidney, Abnormal finger morphology, Corneal opaci...	OMIM:163200
Neuropathy, Hereditary Sensory, Type Ie	Ataxia, Decreased number of peripheral myelinated nerve fibers	OMIM:614116
Colchicine Poisoning	Myocarditis, Hypokalemia, Hypocalcemia, Oliguria, Leukocytosis, Hyponatremia, Hypomagnesemia, Hyp...	ORPHA:31824
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Left ventricular h...	OMIM:613153
Hypokalemic Periodic Paralysis	Paralysis, Periodic hypokalemic paresis, Respiratory paralysis	ORPHA:681
Dystonia 24	Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia	OMIM:615034
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Craniorachischisis	Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida	ORPHA:63260
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Hypertonia, Tremor, Failure to thrive, Ataxia, Delayed CNS myelination	OMIM:619556
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Tremor, Weight loss	OMIM:613239
Parkinsonism-Dystonia 3, Childhood-Onset	Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Parkinsonism	OMIM:619738
Fucosidosis	Lipoatrophy, Hepatomegaly, Abnormality of the gallbladder, Corneal opacity, Mucopolysacchariduria...	ORPHA:349
Hyperaldosteronism, Familial, Type Iii	Polyuria, Hypokalemia, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hy...	OMIM:613677
Mucopolysaccharidosis Type 6	Abnormal metaphysis morphology, Genu valgum, Abnormal heart valve morphology, Epiphyseal dysplasi...	ORPHA:583
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Hyperkalemia, Renal salt wasting, Jaundice, Anemia, Cachexia, Vacuolated ly...	ORPHA:275761
Intellectual Developmental Disorder, X-Linked 12	Hyperkinetic movements, Spasticity, Gliosis, Tremor, Truncal obesity, Small for gestational age, ...	OMIM:300957
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Tremor, Ataxia	ORPHA:1368
Spondylodysplastic Ehlers-Danlos Syndrome	Subluxation of the small joints of the hand, Abnormal femoral head morphology, Abnormal finger mo...	ORPHA:536471
Aica-Ribosiduria Due To Atic Deficiency	Hyponatremia, Secundum atrial septal defect, Elevated urinary 5-amino-4-imidazolecarboxamide-ribo...	OMIM:608688
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Unilateral renal agenesis, Corneal opacity, Developmental cataract, Joint hypermobili...	OMIM:616603
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion	OMIM:608470
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Bradykinesia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, ...	ORPHA:240085
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
X-Linked Dystonia-Parkinsonism	Bradykinesia, Resting tremor, Chorea, Progressive extrapyramidal muscular rigidity, Parkinsonism ...	ORPHA:53351
Familial Cervical Artery Dissection	Paralysis, Facial palsy	ORPHA:36382
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Tremor, Hemiparesis, Dystonia, Parkinsonism	ORPHA:306669
Perry Syndrome	Abnormality of extrapyramidal motor function, Tremor, Parkinsonism, Weight loss	ORPHA:178509
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Schimke Immuno-Osseous Dysplasia	Abnormal femoral head morphology, Hyperlipidemia, Corneal opacity, Hypoplastic pelvis, Bone marro...	ORPHA:1830
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Delayed puberty, 3-Methylglutaconic aciduria, Corneal opacity, Hypertrophic cardiomyopathy, Hip d...	ORPHA:496790
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Peripheral axonal neuropathy, Facial diplegia, Failure to thrive, Ataxia, Decrease...	ORPHA:254930
Premature Aging Syndrome, Penttinen Type	Lipoatrophy, Elevated circulating thyroid-stimulating hormone concentration, Slender long bone, R...	OMIM:601812
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
L-2-Hydroxyglutaric Aciduria	Optic atrophy, Abnormality of extrapyramidal motor function, Gliosis, Spastic tetraparesis, Ataxi...	OMIM:236792
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Gliosis, Titubation, Failure to thrive, Ataxia, Abnormal myelination, Cere...	ORPHA:280210
Hereditary Bullous Dystrophy, Macular Type	Short finger, Corneal opacity, Decreased testicular size, Abnormal heart morphology, Cataract, Cr...	ORPHA:1867
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Optic atrophy, Babinski sign, Hypertonia, Limb hypertonia, Gliosis, Myoclonic spasms, Clonus, Rig...	OMIM:614498
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Unilateral renal agenesis, Corneal opacity, Testicular seminoma, Hypogonadism, Cr...	ORPHA:281090
Myasthenic Syndrome, Congenital, 16	Periodic paralysis	OMIM:614198
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Spastic gait, Demyelinating peripheral neuropathy, Basal lamina onion bulb formation, Progressive...	ORPHA:2821
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism	OMIM:103900
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Mucopolysaccharidosis, Type Vii	Narrow greater sciatic notch, Genu valgum, Hepatomegaly, Spatulate ribs, Abnormal heart valve mor...	OMIM:253220
Amyotrophic Lateral Sclerosis	Babinski sign, Fasciculations, Cachexia, Spasticity, Motor neuron atrophy, Paralysis, Amyotrophic...	ORPHA:803
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Hypertonia, Chorea, Spasticity, Demyelinating peripheral neuropathy, Gait ataxia, ...	ORPHA:255210
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Poor fine motor coordination, Atrophy of the spinal cord, Failure to thrive, Ataxi...	ORPHA:79282
O'Sullivan-Mcleod Syndrome	Fasciculations, Atrophy of the spinal cord, Tremor	ORPHA:99965
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea	OMIM:217300
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulatin...	OMIM:201910
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Femoral bowing, Corneal opacity, Broad thumb, Bilateral radial aplasia, Abs...	OMIM:274000
Mucolipidosis Type Iii Alpha/Beta	Keratan sulfate excretion in urine, Corneal opacity, Generalized osteoporosis, Joint stiffness, F...	ORPHA:423461
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopen...	OMIM:619313
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Short finger, Flared metaphysis, Metaphyseal cupping, Femoral bowin...	OMIM:608940
Subependymal Nodular Heterotopia	Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele, Meningocele	ORPHA:101030
Gm1 Gangliosidosis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Inguinal hernia, Cardiomyopathy, C...	ORPHA:354
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Babinski sign, Oromandibular dystonia, Generalized dystonia, Abnormality of extrap...	OMIM:614298
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Tremor, Spastic paraplegia, O...	OMIM:300055
Alpha-Mannosidosis, Adult Form	Osteopenia, Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract, Oligosacchariduria	ORPHA:309288
Holoprosencephaly	Congenital diaphragmatic hernia, Anterior hypopituitarism, Hypoplasia of penis, Diabetes insipidu...	ORPHA:2162
Mosaic Trisomy 9	Rocker bottom foot, Finger clinodactyly, Dextrocardia, Abnormal liver lobulation, Hypoplasia of p...	ORPHA:99776
Hurler-Scheie Syndrome	Hepatomegaly, Inguinal hernia, Corneal opacity, Dermatan sulfate excretion in urine, Joint stiffn...	OMIM:607015
Wilson Disease	Cirrhosis, Hepatomegaly, Jaundice, Anemia, Acute hepatitis, Kayser-Fleischer ring, Arthritis, Inc...	ORPHA:905
Glioblastoma	Paralysis, Glioblastoma multiforme	ORPHA:360
Giant Axonal Neuropathy 1, Autosomal Recessive	Sensory axonal neuropathy, Facial palsy, Spastic paraplegia, Decreased number of peripheral myeli...	OMIM:256850
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Necrotizing Enterocolitis	Leukocytosis, Hyponatremia, Abnormal heart morphology, Thrombocytopenia, Peritonitis, Small for g...	ORPHA:391673
Juvenile Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Visceromegaly, Corneal opacity, Abnormal heart morphology, Hepatos...	ORPHA:93399
Gaucher Disease	Delayed puberty, Decreased HDL cholesterol concentration, Corneal opacity, Joint stiffness, Leuko...	ORPHA:355
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hepatomegaly, Jaundice, Polycystic kidney dysplasia, Intrahepatic biliary dysgenesis, Elevated ci...	OMIM:214110
Spinocerebellar Ataxia Type 27	Limb ataxia, Truncal ataxia, Sensory axonal neuropathy, Tremor, Gait ataxia, Hand tremor	ORPHA:98764
Oculocerebrocutaneous Syndrome	Congenital diaphragmatic hernia, Finger syndactyly, Corneal opacity, Missing ribs, Abnormal rib m...	ORPHA:1647
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610125
Mucopolysaccharidosis Type 1	Abnormal metaphysis morphology, Abnormal aortic valve morphology, Abnormal hip bone morphology, I...	ORPHA:579
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone concentration, H...	OMIM:618183
Meckel Syndrome, Type 2	Intrauterine growth retardation, Anencephaly, Encephalocele, Meningocele	OMIM:603194
Dentatorubral Pallidoluysian Atrophy	Limb ataxia, Oromandibular dystonia, Progressive cerebellar ataxia, Dyssynergia, Truncal ataxia, ...	ORPHA:101
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
X-Linked Charcot-Marie-Tooth Disease Type 5	Optic atrophy, Tremor, Ataxia, Paraparesis	ORPHA:99014
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:1930
Liver Disease, Severe Congenital	Left atrial enlargement, Lymphocytosis, Hypoproteinemia, Biliary hyperplasia, Hyperammonemia, Leu...	OMIM:619991
Kufor-Rakeb Syndrome	Bradykinesia, Babinski sign, Hypertonia, Torticollis, Spasticity, Parkinsonism with favorable res...	OMIM:606693
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Rabin-Pappas Syndrome	Tracheomalacia, Hyponatremia, Obesity, Cataract, Failure to thrive in infancy	OMIM:620155
Gerstmann-Straussler Disease	Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa...	OMIM:137440
Farber Disease	Short finger, Anemia, Lymphadenopathy, Arthritis, Intrahepatic cholestasis with episodic jaundice...	ORPHA:333
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal...	ORPHA:171673
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Cerebral palsy, Head titubation, Ataxia, Leukodystrophy, Hypertonia, Delayed myelination, Failure...	OMIM:619475
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Eyelid myoclonus, Oculomotor apraxia, Spina bifida occulta, Incoordination, Tremor, Ataxia, Abnor...	OMIM:618060
Sialidosis Type 1	Corneal opacity, Urinary excretion of sialylated oligosaccharides, Splenomegaly, Cataract, Aminoa...	ORPHA:812
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cell...	ORPHA:167
Mucopolysaccharidosis, Type Iva	Grayish enamel, Genu valgum, Hepatomegaly, Inguinal hernia, Keratan sulfate excretion in urine, A...	OMIM:253000
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ...	ORPHA:293978
Congenital Sialidosis Type 2	Polydactyly, Hepatomegaly, Inguinal hernia, Corneal opacity, Abnormal heart morphology, Developme...	ORPHA:93400
Peho Syndrome	Optic atrophy, Peripheral dysmyelination, Myoclonus	OMIM:260565
Hurler Syndrome	Hepatomegaly, Abnormal diaphysis morphology, Abnormal heart valve morphology, Abnormality of the ...	ORPHA:93473
Gm2-Gangliosidosis, Ab Variant	Hypertonia, Chorea, Spastic tetraparesis, Exaggerated startle response, Dystonia, Abnormal pyrami...	OMIM:272750
Meckel Syndrome, Type 4	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Intrauterine growth retardation	OMIM:611134
Mucopolysaccharidosis Type 3	Reduced bone mineral density, Corneal opacity, Joint stiffness, Abnormal mitral valve morphology,...	ORPHA:581
Atypical Progressive Supranuclear Palsy Syndrome	Bradykinesia, Oculomotor apraxia, Tremor by anatomical site, Extrapyramidal muscular rigidity, Tr...	ORPHA:99750
Schisis Association	Anencephaly, Encephalocele, Spina bifida	ORPHA:63862
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Babinski sign, Lower limb spasticity, Spasticity, Poor fine motor coordination, Op...	ORPHA:320375
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul...	ORPHA:3077
Glut1 Deficiency Syndrome 2	Tremor, Ataxia, Dystonia, Choreoathetosis	OMIM:612126
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Tongue fasciculations, Demyelinating peripheral neuropathy, Frequent falls, Head t...	ORPHA:99949
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero...	ORPHA:231580
Fabry Disease	Abnormal circulating lipid concentration, Delayed puberty, Reduced bone mineral density, Abnormal...	ORPHA:324
Aminopterin/Methotrexate Embryofetopathy	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Short stature, Holoprosencephaly, Intraut...	ORPHA:1908
Mucopolysaccharidosis, Type Vi	Genu valgum, Hepatomegaly, Inguinal hernia, Hypoplastic iliac wing, Hypoplastic acetabulae, Cardi...	OMIM:253200
Dystonia 1, Torsion, Autosomal Dominant	Babinski sign, Hypertonia, Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia,...	OMIM:128100
Gm1-Gangliosidosis, Type Iii	Hepatomegaly, Hypoplastic acetabulae, Flared iliac wing, Splenomegaly, Opacification of the corne...	OMIM:230650
Tbck-Related Intellectual Disability Syndrome	Abnormal circulating lipid concentration, Broad finger, Decreased response to growth hormone stim...	ORPHA:488632
Developmental And Epileptic Encephalopathy 4	Tremor, Spastic paraplegia, Delayed CNS myelination, Spastic tetraplegia, Choreoathetosis, Cerebr...	OMIM:612164
Multiple Sulfatase Deficiency	Hepatomegaly, Corneal opacity, Broad thumb, Joint stiffness, Mucopolysacchariduria, Splenomegaly,...	ORPHA:585
Japanese Encephalitis	Pill-rolling tremor, Hypertonia, Hyperintensity of MRI T2 signal of the spinal cord, Paralysis, R...	ORPHA:79139
Mucolipidosis Iii Gamma	Genu valgum, Flat capital femoral epiphysis, Claw hand deformity, Shoulder contracture, Increased...	OMIM:252605
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Babinski sign, Hypertonia, Gliosis, Spasticity, Cerebral palsy, Limb dystonia, Clonus, Opisthoton...	OMIM:619847
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Increased circulating ACTH level, Congenital adrenal hyperplasia	OMIM:613571
X-Linked Cerebral Adrenoleukodystrophy	Hoffmann sign, Oculomotor apraxia, Lower limb spasticity, Apraxia, Peripheral axonal neuropathy, ...	ORPHA:139396
Dystonia 2, Torsion, Autosomal Recessive	Torsion dystonia, Tremor, Blepharospasm, Torticollis	OMIM:224500
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Hypermanganesemia With Dystonia 2	Bradykinesia, Babinski sign, Oromandibular dystonia, Generalized dystonia, Scissor gait, Spastici...	OMIM:617013
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Absent distal phalanges, Corneal opacity, 2-5 finger cut...	OMIM:619339
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Parkinson Disease 14, Autosomal Recessive	Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Ankle clonus, Resting tremor, Axial dystonia...	OMIM:612953
Scheie Syndrome	Hepatomegaly, Limitation of joint mobility, Corneal opacity, Joint stiffness, Mucopolysaccharidur...	ORPHA:93474
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre...	ORPHA:98973
Anterior Segment Dysgenesis 2	Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle...	OMIM:610256
Ddost-Cdg	Failure to thrive, Tremor, CNS hypomyelination, Oromotor apraxia	ORPHA:300536
Toxin-Mediated Infectious Botulism	Paralysis, Diaphragmatic paralysis, Cerebral palsy	ORPHA:230800
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic bile duct ...	ORPHA:731
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Truncal ataxia, Gliosis, Tremor, Spasticity, CNS demyelination, Failure to thrive, Peripheral dem...	OMIM:220111
Cholera	Acute kidney injury, Hypokalemia, Hypocalcemia, Hyponatremia, Abnormality of renal excretion, Abn...	ORPHA:173
Chiari Malformation Type Ii	Hydrocephalus, Cervical myelopathy, Myelomeningocele, Spina bifida	OMIM:207950
Parkinson-Dementia Syndrome	Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism	OMIM:260540
Brain Dopamine-Serotonin Vesicular Transport Disease	Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Limb dystonia, A...	ORPHA:352649
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Oculomotor apraxia, Spasticity, Tremor, Poor motor coordination, Gait ataxia, Ataxia, Dysmetria	ORPHA:1170
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Cataract	OMIM:152950
Spinocerebellar Ataxia 42	Spastic gait, Babinski sign, Tremor, Ataxia, Spastic ataxia, Abnormal pyramidal sign	OMIM:616795
Non-Functioning Paraganglioma	Tremor, Vocal cord paralysis, Cranial nerve compression, Paraganglioma of head and neck, Weight l...	ORPHA:94080
Parkinson Disease 8, Autosomal Dominant	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:607060
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Short long bone, Flat acetabular roof, Flared iliac wing, Splenomegaly, Bullet-s...	OMIM:252500
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Sjogren-Larsson Syndrome	Opacification of the corneal epithelium, Enamel hypoplasia, Astigmatism, Flexion contracture	OMIM:270200
Cockayne Syndrome Type 2	Anophthalmia	ORPHA:90322
Maternal Uniparental Disomy Of Chromosome 6	Increased serum testosterone level, Inguinal hernia, Slender long bone, Congenital adrenal hyperp...	ORPHA:96181
Oculomaxillofacial Dysostosis	Corneal opacity, Abnormality of the humerus, Camptodactyly of finger, Brachydactyly, Adducted thumb	ORPHA:1794
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Congenital Hereditary Endothelial Dystrophy Type Ii	Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ...	ORPHA:293603
De Barsy Syndrome	Osteopenia, Inguinal hernia, Corneal opacity, Congenital hip dislocation, Coxa vara, Failure to t...	ORPHA:2962
Infant Botulism	Hyponatremia, Mydriasis, Keratoconjunctivitis sicca	ORPHA:178478
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Optic atrophy, Hypertonia, Limb hypertonia, Tremor, Athetosis, Dystonia, Ataxia, Delayed CNS myel...	OMIM:617710
Anterior Segment Dysgenesis 5	Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac...	OMIM:604229
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Pancreatitis, Hypokalemia, Anuria, Leukocytosis, Unconjugated hyperbilirubin...	ORPHA:90038
Bartsocas-Papas Syndrome	Popliteal pterygium, Finger syndactyly, Corneal opacity, Synostosis of joints, Aplasia/Hypoplasia...	ORPHA:1234
Wilson Disease	Sunflower cataract, Portal fibrosis, Splenomegaly, High nonceruloplasmin-bound serum copper, Join...	OMIM:277900
Pearson Syndrome	Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphology, Hypophos...	ORPHA:699
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Late-Infantile/Juvenile Krabbe Disease	Abnormal CNS myelination, Lower limb spasticity, Tetraplegia, Tremor, Upper motor neuron dysfunct...	ORPHA:206443
3Q29 Microduplication Syndrome	Aniridia, Sandal gap, Camptodactyly of toe, Obesity, Toe syndactyly, Sclerocornea, Cataract, Cran...	ORPHA:251038
Caudal Duplication	Myelomeningocele, Spina bifida	ORPHA:1756
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis, Weight loss	OMIM:188580
Trisomy 1Q	Anophthalmia	ORPHA:261344
Ataxia With Vitamin E Deficiency	Hypertonia, Dysdiadochokinesis, Tremor, Hemiplegia/hemiparesis, Dystonia, Ataxia, Abnormal pyrami...	ORPHA:96
Encephalocraniocutaneous Lipomatosis	Lipoma, Pelvic kidney, Subcutaneous lipoma, Hypoplasia of the iris, Cryptorchidism, Hydronephrosi...	OMIM:613001
East Syndrome	Action tremor, Peripheral axonal neuropathy, Peripheral hypomyelination, Ataxia	ORPHA:199343
Chromosome 6Pter-P24 Deletion Syndrome	Rocker bottom foot, Ocular anterior segment dysgenesis, Clinodactyly of the 5th finger, Peters an...	OMIM:612582
Alpha-Mannosidosis, Infantile Form	Osteopenia, Cranial hyperostosis, Genu valgum, Astigmatism, Joint hypermobility, Pancytopenia, Bi...	ORPHA:309282
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Decreased mobility 3rd-5th fingers, Megalocornea, Radial bowing, Opacificatio...	OMIM:164900
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Spondyloepiphyseal Dysplasia, Maroteaux Type	Genu valgum, Generalized osteoporosis, Short palm, Mucopolysacchariduria, Short femoral neck, Opa...	OMIM:184095
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Vocal cord paralysi...	OMIM:168000
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Rocker bottom foot, Decreased circulating androstenedione concentration, Decreased circulating de...	OMIM:201750
Mosaic Trisomy 8	Clinodactyly of the 5th finger, Vesicoureteral reflux, Corneal opacity, Limitation of joint mobil...	ORPHA:96061
Osteogenesis Imperfecta	Reduced bone mineral density, Abnormal femur morphology, Abnormal hip bone morphology, Dislocated...	ORPHA:666
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Developmental glaucoma, Unilateral renal agenesis, Aniridia, Corneal opacity, Craniosynostosis	ORPHA:1064
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Spastic tetraplegia, Gliosis, Hypertonia, Tetraplegia	OMIM:608033
Pigmented Nodular Adrenocortical Disease, Primary, 3	Adrenal hyperplasia, Increased circulating cortisol level	OMIM:614190
8Q21.11 Microdeletion Syndrome	Abnormal metacarpal morphology, Hypoplasia of penis, Finger syndactyly, Corneal opacity, Camptoda...	ORPHA:284160
Oculocerebral Hypopigmentation Syndrome, Cross Type	Abnormal thumb morphology, Anemia, Inguinal hernia, Corneal opacity, Limitation of joint mobility...	ORPHA:2719
Schimke Immunoosseous Dysplasia	Osteopenia, Abnormal T cell morphology, Lateral displacement of the femoral head, Astigmatism, An...	OMIM:242900
Chime Syndrome	Acute leukemia, Pulmonary valve atresia, Transposition of the great arteries, Aplasia/Hypoplasia ...	ORPHA:3474
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Concentric hypertrophic cardiomyopathy, Patent foramen ovale, Elevated circulating ...	OMIM:610505
Distal Deletion 6P	Abnormal anterior chamber morphology, Clinodactyly of the 5th finger, Corneal opacity, Hypoplasia...	ORPHA:96125
Wildervanck Syndrome	Meningocele	ORPHA:3456
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Myocarditis, Acute kidney injury, Pancreatitis, Hypocalcemia, Oliguria, Anuria, Nep...	ORPHA:544482
Mohr-Tranebjaerg Syndrome	Optic atrophy, Babinski sign, Oromandibular dystonia, Generalized dystonia, Apraxia, Tremor, Foca...	ORPHA:52368
Lissencephaly Syndrome, Norman-Roberts Type	Rocker bottom foot, Patent foramen ovale, Hypoplastic spleen, Adducted thumb, Atrial septal defect	ORPHA:89844
Pelvis-Shoulder Dysplasia	Clinodactyly of the 5th finger, Hypoplastic acetabulae, Short clavicles, Hypoplastic ilia, Congen...	OMIM:169550
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Spinocerebellar Ataxia Type 21	Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia,...	ORPHA:98773
Van Den Ende-Gupta Syndrome	Dislocated radial head, Short ribs, Femoral bowing, Arachnodactyly, Slender metacarpals, Craniosy...	OMIM:600920
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
Muscle-Eye-Brain Disease	Hydrocephalus, Holoprosencephaly, Meningocele	ORPHA:588
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Parkinson Disease, Late-Onset	Bradykinesia, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Substantia nigra gliosis	OMIM:168600
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cachexia, Demyelinating peripheral neuropathy, Peripheral axonal neuropathy, Weight loss, Decreas...	ORPHA:298
Thoraco-Abdominal Enteric Duplication	Meningocele	ORPHA:1759
Epithelial Recurrent Erosion Dystrophy	Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,...	ORPHA:293381
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Fuchs Endothelial Corneal Dystrophy	Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of...	ORPHA:98974
Spinocerebellar Ataxia 8	Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Abnormal pyramidal sign	OMIM:608768
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Ulnar bowing, Corneal opacity, Aplasia/Hypoplasia of the radius, Proteinuria, Radial b...	ORPHA:1765
Dyrk1A-Related Intellectual Disability Syndrome	Corneal opacity, Aortic valve stenosis, Arachnodactyly, Polydactyly, Breast hypoplasia, Astigmati...	ORPHA:464306
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Precocious puberty in males, Elevated serum ...	OMIM:202010
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Astigmatism, Hypospadias, Unilateral renal agenesis, Pelvic kidney, Ta...	ORPHA:464311
X-Linked Adrenoleukodystrophy	Paralysis, Incoordination, Paraparesis, Hemiparesis, Progressive spastic paraparesis, Clumsiness	ORPHA:43
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Acute Intermittent Porphyria	Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Increased urinary porphobilinog...	ORPHA:79276
Pseudo-Torch Syndrome 1	Hepatomegaly, Jaundice, Patent foramen ovale, Failure to thrive, Thrombocytopenia, Splenomegaly, ...	OMIM:251290
Mosaic Trisomy 1	Rocker bottom foot, Congenital diaphragmatic hernia, Broad 2nd toe, Arachnodactyly, Long toe, Dev...	ORPHA:1692
Pheochromocytoma/Paraganglioma Syndrome 3	Chemodectoma, Adrenal pheochromocytoma, Vocal cord paralysis, Paraganglioma, Glomus jugular tumor...	OMIM:605373
Mucopolysaccharidosis Type 2, Severe Form	Cardiomyopathy, Corneal opacity, Dermatan sulfate excretion in urine, Abnormal mitral valve morph...	ORPHA:217085
Hypermanganesemia With Dystonia 1	Bradykinesia, Abnormality of extrapyramidal motor function, Poor fine motor coordination, Tremor,...	OMIM:613280
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Granular Corneal Dystrophy Type Ii	Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube...	ORPHA:98963
Parkinson Disease 21	Bradykinesia, Rigidity, Tremor, Parkinsonism	OMIM:616361
Williams Syndrome	Abnormal circulating lipid concentration, Hypoplasia of penis, Corneal opacity, Pulmonic stenosis...	ORPHA:904
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cholestasis, Renal cortical microcysts, Splenomegaly, Jaundice, Hypospadias, Polycystic kidney dy...	OMIM:614866
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Mucopolysaccharidosis Type 2	Hepatomegaly, Abnormal tricuspid valve morphology, Hip osteoarthritis, Inguinal hernia, Flexion c...	ORPHA:580
Mucopolysaccharidosis Type 2, Attenuated Form	Cardiomyopathy, Corneal opacity, Dermatan sulfate excretion in urine, Abnormal mitral valve morph...	ORPHA:217093
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Failure to thrive in infancy, Syringomyelia, Decreased number of peripheral myelinated nerve fibers	ORPHA:477817
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma, Polycystic ovaries, Hypogonadotropic hypogonadism	ORPHA:1643
Perry Syndrome	Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Weight loss	OMIM:168605
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Babinski sign, Spasticity, Tremor, Optic disc pallor, Spastic paraplegia, Ataxia, CNS hypomyelina...	OMIM:618527
Tick-Borne Encephalitis	Hyperkinetic movements, Abnormal glossopharyngeal nerve morphology, Myelitis, Abnormal cranial ne...	ORPHA:297
Arnold-Chiari Malformation Type I	Abnormality of the vestibulocochlear nerve, Babinski sign, Syringomyelia, Abnormality of the twel...	ORPHA:268882
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Incontinentia Pigmenti	Finger syndactyly, Abnormal dental enamel morphology, Corneal opacity, Absent hand, Deviation of ...	ORPHA:464
Tangier Disease	Hypertriglyceridemia, Anemia, Corneal opacity, Chronic noninfectious lymphadenopathy, Coronary ar...	ORPHA:31150
Neurodegeneration With Brain Iron Accumulation 5	Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis	OMIM:300894
Fryns Syndrome	Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Hypospadias, Vesicoureteral refl...	ORPHA:2059
Adult-Onset Autosomal Dominant Leukodystrophy	Spastic gait, Babinski sign, Hypertonia, Spasticity, Atrophy of the spinal cord, Tremor, Upper mo...	ORPHA:99027
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Abnormality of the gallbladder, Hypoplastic pubic ramus, Arachno...	ORPHA:280
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal peripheral myelination, Abnormal peripheral nerve morphology by anatomical site	ORPHA:168563
Camptodactyly Syndrome, Guadalajara Type 1	Intrauterine growth retardation, Short stature, Spina bifida	ORPHA:1327
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Corneal opacity, Conjunctival hyperemia, Lipomas of eyelids, Cata...	ORPHA:2399
Peroxisome Biogenesis Disorder 1A (Zellweger)	Rocker bottom foot, Hepatomegaly, Hypospadias, Epiphyseal stippling, Intrahepatic biliary dysgene...	OMIM:214100
Generalized Glucocorticoid Resistance Syndrome	Abnormal circulating testosterone concentration, Hypokalemia, Adrenal hyperplasia, Precocious pub...	ORPHA:786
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Failure to thrive, Small for gestational age, Patent urachus	OMIM:618252
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hepatomegaly, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetab...	OMIM:620076
Infantile Nephropathic Cystinosis	Rickets, Low-molecular-weight proteinuria, Abnormality of thyroid physiology, Hypokalemia, Failur...	ORPHA:411629
Ichthyosis, X-Linked	Testicular neoplasm, Opacification of the corneal stroma, Cryptorchidism	OMIM:308100
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Ataxia, Titubation, Dysmetria	OMIM:619405
Parkinson Disease 1, Autosomal Dominant	Bradykinesia, Resting tremor, Gliosis, Rigidity, Dystonia, Parkinsonism, Myoclonus	OMIM:168601
Foodborne Botulism	Paralysis, Diaphragmatic paralysis, Cerebral palsy	ORPHA:228371
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Anterior Segment Dysgenesis 6	Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m...	OMIM:617315
Granular Corneal Dystrophy Type I	Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ...	ORPHA:98962
Classic Progressive Supranuclear Palsy Syndrome	Bradykinesia, Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism with fav...	ORPHA:240071
Congenital Disorder Of Deglycosylation 1	3-Methylglutaconic aciduria, Hepatomegaly, Corneal ulceration, Keratan sulfate excretion in urine...	OMIM:615273
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Patent foramen ovale, Corneal opacity, Right atrial enlargement, Failure to thrive, Pericardial e...	OMIM:620519
Axenfeld-Rieger Syndrome, Type 2	Hypospadias, Inguinal hernia, Microcornea, Abnormal heart morphology, Umbilical hernia, Opacifica...	OMIM:601499
Encephalocraniocutaneous Lipomatosis	Tricuspid valve prolapse, Craniofacial hyperostosis, Bone cyst, Corneal opacity, Aortic valve ste...	ORPHA:2396
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Cockayne Syndrome Type 1	Anophthalmia	ORPHA:90321
Cushing Disease	Increased circulating ACTH level, Increased body weight, Increased urinary cortisol level, Lympho...	ORPHA:96253
Moebius Syndrome	Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Breast aplasi...	ORPHA:570
Tay-Sachs Disease	Optic atrophy, Ankle clonus, Fasciculations, Incoordination, Gliosis, Decerebrate rigidity, Tremo...	ORPHA:845
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Abnormal metacarpal morphology, Coronal craniosynostosis, Sclerocornea, Umbilical he...	ORPHA:2095
Spastic Paraplegia 9B, Autosomal Recessive	Babinski sign, Tetraplegia, Tremor, Spasticity, Spastic paraplegia, Pseudobulbar paralysis	OMIM:616586
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Pathologic ...	OMIM:601559
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Corneal opacity, Conjunctivitis	OMIM:602562
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Limb ataxia, Chronic axonal neuropathy, Oculomotor apraxia, Chorea, Peripheral axonal neuropathy,...	OMIM:606002
Larsen Syndrome	Spatulate thumbs, Multiple carpal ossification centers, Short metatarsal, Tracheomalacia, Tapered...	OMIM:150250
Hutchinson-Gilford Progeria Syndrome	Reduced bone mineral density, Ventricular hypertrophy, Corneal opacity, Limitation of movement at...	ORPHA:740
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Poor fine motor coordination, Tremor, Vocal cord paralysis, Myelin outfoldings	ORPHA:99956
Olmsted Syndrome 1	Opacification of the corneal stroma, Corneal opacity, Flexion contracture	OMIM:614594
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes...	ORPHA:293987
Atopic Keratoconjunctivitis	Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ...	ORPHA:163934
Cockayne Syndrome B	Optic atrophy, Severe failure to thrive, Tremor, Failure to thrive, Ataxia, Peripheral dysmyelina...	OMIM:133540
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Anophthalmia	OMIM:601186
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Lipoatrophy, Corneal opacity, Pulmonic stenosis, Congenital malformation of...	ORPHA:3455
Scheie Syndrome	Aortic valve stenosis, Corneal opacity, Mitral stenosis, Genu valgum	OMIM:607016
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Peripheral hypomyelination, Chronic axonal neuropathy, Dysdiadochokinesis, Intention tremor, Ataxia	OMIM:612780
Macular Corneal Dystrophy	Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy...	ORPHA:98969
Hereditary Late-Onset Parkinson Disease	Bradykinesia, Resting tremor, Gliosis, Parkinsonism with favorable response to dopaminergic medic...	ORPHA:411602
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Tremor, Vocal cord paralysis, Cranial ne...	ORPHA:276621
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Polysplen...	OMIM:620642
Yunis-Varon Syndrome	Rocker bottom foot, Absent sternal ossification, Abnormal finger morphology, Short ribs, Cardiomy...	ORPHA:3472
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Anophthalmia	OMIM:206900
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Increased body weight, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lymphope...	ORPHA:99889
3Mc Syndrome 3	Preaxial polydactyly, Penoscrotal hypospadias, Horseshoe kidney, Corneal opacity, Radioulnar syno...	OMIM:248340
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Truncal ataxia, Vocal cord paralysis, Knee clonus, Facial palsy, Ataxia, A...	OMIM:211530
Poliomyelitis	Hyperkinetic movements, Myelitis, Fasciculations, Paraparesis, Paralysis	ORPHA:2912
Sirenomelia	Sirenomelia, Spina bifida	ORPHA:3169
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Hypospadias, Accessory spleen, Upper limb undergrowth, Postaxial hand p...	OMIM:236680
Wagro Syndrome	Aniridia, Corneal opacity, Decreased testicular size, Obesity, Proteinuria, Cataract	OMIM:612469
Intellectual Developmental Disorder, Autosomal Dominant 72	Spina bifida	OMIM:620439
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia, Ventricular septal defect, Hypospadias, Adrenal gland agenesis	OMIM:611812
Isolated Klippel-Feil Syndrome	Spina bifida	ORPHA:2345
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Blepharospasm, Ataxia, Myoclonus	OMIM:607876
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Irregular epiphyses, Hip osteoarthritis, Hypoplastic iliac wing, Limitation of joint mobility, Co...	OMIM:313400
Norrie Disease	Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar...	OMIM:310600
Choreoacanthocytosis	Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Resting tremor, Chorea,...	ORPHA:2388
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Anemia, Craniosynostosis, Atrophic scars, Corneal opacity, Enamel hypoplasia, Failure t...	ORPHA:79396
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia	ORPHA:3412
Autosomal Dominant Spastic Paraplegia Type 9A	Spastic gait, Babinski sign, Spastic dysarthria, Tremor, Lower limb hypertonia, Abnormality of th...	ORPHA:447753
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Anophthalmia	ORPHA:1101
Isolated Posterior Meningocele	Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele	ORPHA:268810
Migraine, Familial Hemiplegic, 2	Apraxia, Tremor, Episodic ataxia, Gait ataxia, Hemiparesis, Hemiplegia, Dysmetria	OMIM:602481
Meckel Syndrome	Situs inversus totalis, Ureteral duplication, Accessory spleen, Microcornea, Postaxial hand polyd...	ORPHA:564
Aceruloplasminemia	Limb ataxia, Torticollis, Chorea, Tremor, Blepharospasm, Craniofacial dystonia, Gait ataxia, Invo...	ORPHA:48818
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma, Cryptorchidism	ORPHA:461
Neurofibromatosis Type 1	Osteopenia, Delayed puberty, Genu valgum, Abnormal hip bone morphology, Slender long bone, Abnorm...	ORPHA:636
Triploidy	Intrauterine growth retardation, Holoprosencephaly, Hydrocephalus, Meningocele	ORPHA:3376
Cerebrocostomandibular Syndrome	Hydranencephaly, Meningocele, Myelomeningocele, Spina bifida, Short stature, Intrauterine growth ...	ORPHA:1393
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria...	OMIM:221900
Glossopharyngeal Neuralgia	Abnormal glossopharyngeal nerve morphology, Vocal cord paralysis, Cranial nerve compression, Weig...	ORPHA:221098
Progressive Supranuclear Palsy	Bradykinesia, Gliosis, Tremor, Blepharospasm, Rigidity, Dystonia	ORPHA:683
Fibular Hemimelia	Anophthalmia	ORPHA:93323
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Asplenia, Hypoplastic pelvis, Urethral atresia, Cataract, Adrena...	OMIM:273395
Thyrotoxic Periodic Paralysis	Respiratory paralysis, Tetraplegia, Tremor, Periodic hypokalemic paresis, Obesity, Weight loss, P...	ORPHA:79102
Stromme Syndrome	Preaxial polydactyly, Accessory spleen, Microcornea, Hydronephrosis, Sclerocornea, Bilateral rena...	OMIM:243605
Autosomal Recessive Spondylocostal Dysostosis	Spina bifida occulta, Meningocele, Short stature, Umbilical hernia, Intrauterine growth retardation	ORPHA:2311
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hypertonia, Astrocytosis, Gliosis, Failure to thrive, Ataxia, Myoclonus, Paralysis, Tetraparesis	OMIM:203700
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Mosaic Variegated Aneuploidy Syndrome	Clinodactyly of the 5th finger, Corneal opacity, Hypothyroidism, Acute lymphoblastic leukemia, Ca...	ORPHA:1052
Kindler Epidermolysis Bullosa	Neoplasm of the urethra, Short 4th metacarpal, Anemia, Finger syndactyly, Abnormal dental enamel ...	ORPHA:2908
Cockayne Syndrome A	Optic atrophy, Tremor, Failure to thrive, Ataxia, Peripheral dysmyelination, Patchy demyelination...	OMIM:216400
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Clinodactyly of the 5th finger, 11 pairs of r...	ORPHA:79500
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Optic atrophy, Spasticity, Vocal cord paralysis, Increased cup-to-disc ratio, Dystonia, Myoclonus	ORPHA:500144
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Flexion contracture of toe, Puncta...	OMIM:256040
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Tremor	OMIM:190310
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Abnormality of the gallbladder, Proximal placement of thumb, Hyp...	ORPHA:818
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Corneal opacity, Elevated circulating creatine kinase concentration, Megalocornea, Congenital con...	OMIM:236670
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Stormorken Syndrome	Anemia, Hematuria, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asple...	OMIM:185070
Cerebrooculonasal Syndrome	Optic nerve hypoplasia, Anophthalmia	OMIM:605627
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Dermochondrocorneal Dystrophy	Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract, Irregular tarsal ...	OMIM:221800
Histiocytoid Cardiomyopathy	Hepatomegaly, Corneal opacity, Congenital aphakia, Megalocornea, Renal cyst, Failure to thrive, C...	ORPHA:137675
Roberts-Sc Phocomelia Syndrome	Radial deviation of finger, Corneal opacity, Wrist flexion contracture, Biliary tract abnormality...	OMIM:268300
Adult-Onset Dystonia-Parkinsonism	Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor...	ORPHA:199351
Joubert Syndrome 21	Dysphagia, Anophthalmia	OMIM:615636
Czeizel-Losonci Syndrome	Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida	ORPHA:2437
Ectodermal Dysplasia-Blindness Syndrome	Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca	ORPHA:1806
Autosomal Dominant Cutis Laxa	Osteopenia, Unilateral renal agenesis, Inguinal hernia, Corneal opacity, Dilatation of the ventri...	ORPHA:90348
Digeorge Syndrome	Ovarian cyst, Splenomegaly, Abnormal thymus morphology, Umbilical hernia, Hepatic steatosis, Ingu...	OMIM:188400
Laryngeal Abductor Paralysis	Vocal cord paralysis	OMIM:150260
Gomez-Lopez-Hernandez Syndrome	Craniosynostosis, Decreased response to growth hormone stimulation test, Opacification of the cor...	OMIM:601853
Insensitivity To Pain, Congenital, With Anhidrosis	Recurrent corneal erosions, Corneal ulceration, Corneal scarring, Keratitis, Opacification of the...	OMIM:256800
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Limb Body Wall Complex	Congenital diaphragmatic hernia, Ectopia cordis, Aplasia/hypoplasia involving bones of the upper ...	ORPHA:2369
Fryns Syndrome	Rocker bottom foot, Ureteral duplication, Proximal placement of thumb, Prominent fingertip pads, ...	OMIM:229850
Chromosome 8Q21.11 Deletion Syndrome	Short metacarpal, Camptodactyly, Sclerocornea, Syndactyly, Cataract, Cryptorchidism, Micropenis	OMIM:614230
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Corneal opacity	OMIM:620469
Inhalational Botulism	Paralysis	ORPHA:254504
Fountain Syndrome	Short stature, Spina bifida occulta, Spina bifida	ORPHA:3219
Peters Plus Syndrome	Ureteral duplication, Corneal opacity, Pulmonic stenosis, Umbilical hernia, Anterior chamber syne...	ORPHA:709
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia	ORPHA:264200
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Microphthalmia/Coloboma 9	Ocular anterior segment dysgenesis, Sclerocornea, Microcornea, Iris coloboma	OMIM:615145
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Anemia, Cholelithiasis, Pancytopenia, Cachexia, Bacterial endocarditis, Corneal ...	ORPHA:2072
Persistent Hyperplastic Primary Vitreous	Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen...	ORPHA:91495
Gelatinous Drop-Like Corneal Dystrophy	Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op...	ORPHA:98957
Lathosterolosis	Anisopoikilocytosis, Hepatomegaly, Intrahepatic cholestasis, Hypoplasia of penis, Microcornea, Po...	ORPHA:46059
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Anaplastic Thyroid Carcinoma	Vocal cord paralysis, Weight loss	ORPHA:142
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Tremor, Vocal cord paralysis, Cranial ne...	ORPHA:29072
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatocellular necrosis, Failure to thrive, Dystonia, Ataxia, Decreased number of peripheral myel...	OMIM:256810
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Failure to thrive, Hypokalemia	OMIM:618426
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma, Visceromegaly, Hepatosplenomegaly	OMIM:256540
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Opacification of the corneal stroma, Shortening of all phalanges o...	OMIM:601356
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Congenital diaphragmatic hernia, Tricuspid valve prolapse, Hypospadias, Abnormal dent...	ORPHA:2556
Bartsocas-Papas Syndrome 1	Ectopic kidney, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly,...	OMIM:263650
Waardenburg Syndrome Type 1	Spina bifida, Meningocele	ORPHA:894
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Neonatal short-trunk short stature, Mesomelic/rhizomelic limb sho...	ORPHA:2839
Mucolipidosis Type Iv	Corneal opacity	ORPHA:578
Joubert Syndrome 14	Growth delay, Hydrocephalus, Encephalocele, Meningocele	OMIM:614424
Hereditary Sensory And Autonomic Neuropathy Type 5	Decreased number of small peripheral myelinated nerve fibers	ORPHA:64752
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Galloway-Mowat Syndrome 1	Camptodactyly, Hypoplasia of the iris, Slender finger, Focal segmental glomerulosclerosis, Nephro...	OMIM:251300
Congenital Primary Aphakia	Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C...	ORPHA:83461
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Hypertonia, Tremor, Spasticity, Rigidity	OMIM:176500
Iniencephaly	Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spina bifida, Holoprosen...	ORPHA:63259
Sacral Defect With Anterior Meningocele	Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele	OMIM:600145
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased number of peripheral myelinated nerve fibers	OMIM:201300
Porphyria, Acute Intermittent	Paralysis, Respiratory paralysis	OMIM:176000
Parkinson Disease 20, Early-Onset	Bradykinesia, Tremor, Involuntary movements, Rigidity, Dystonia, Parkinsonism, Eyelid apraxia	OMIM:615530
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Hypospadias, Peters anomaly, Histiocytoid cardiomyopathy, Chorde...	OMIM:309801
Charge Syndrome	Microphthalmia, Anophthalmia, Compulsive behaviors, Dysphagia, Attention deficit hyperactivity di...	ORPHA:138
Yunis-Varon Syndrome	Absent sternal ossification, Cardiomyopathy, Decreased skull ossification, Flat acetabular roof, ...	OMIM:216340
Supranuclear Palsy, Progressive, 1	Bradykinesia, Retrocollis, Axial dystonia, Astrocytosis, Tremor, Gliosis, Limb dystonia, Rigidity...	OMIM:601104
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short stature, Meningocele	ORPHA:2031
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Thyroid C cell hyperplasia, Failure to thrive, Sclerocornea, Dilated...	OMIM:300952
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
Microphthalmia/Coloboma 12	Peters anomaly, Corneal opacity, Vesicoureteral reflux	OMIM:120200
Ablepharon Macrostomia Syndrome	Breast hypoplasia, Corneal erosion, Hypoplasia of penis, Corneal opacity, Omphalocele, Camptodact...	ORPHA:920
Neurocardiofaciodigital Syndrome	Polydactyly, Double inlet left ventricle, Vesicoureteral reflux, Failure to thrive, Tetralogy of ...	OMIM:619869
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Microcornea, Posterior embryotoxon, D...	OMIM:612109
Neurocutaneous Melanocytosis	Meningocele	ORPHA:2481
Anterior Segment Dysgenesis 1	Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c...	OMIM:107250
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets, Stage 5 chronic kidney disease, Corneal crystals, Proteinuria	OMIM:219900
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Aplasia of the distal phalanx of the 5th toe, Corneal opacity, Failure to thrive, Aplasia of the ...	ORPHA:364577
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Astigmatism, Hydroureter, Corneal erosion, Inguinal hernia, Abnormal dental enamel morphology, Ol...	ORPHA:2273
Amish Lethal Microcephaly	Spina bifida	ORPHA:99742
Neu-Laxova Syndrome 2	Intrauterine growth retardation, Spina bifida	OMIM:616038
Niemann-Pick Disease Type C	Abnormal CNS myelination, Lower limb spasticity, Axial dystonia, Chorea, Demyelinating peripheral...	ORPHA:646
Neurodegeneration With Brain Iron Accumulation 1	Bradykinesia, Babinski sign, Optic atrophy, Abnormality of extrapyramidal motor function, Spastic...	OMIM:234200
Fliedner-Zweier Syndrome	Meningocele	OMIM:620511
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Spina bifida	ORPHA:1120
Gitelman Syndrome	Paralysis, Failure to thrive, Ataxia	OMIM:263800
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Short finger, Ventricular septal hypertrophy, Aplasia of the distal phalanx of the 5th toe, Clino...	OMIM:608670
Holoprosencephaly 9	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610829
Phace Syndrome	Iris coloboma, Heterochromia iridis, Hypothyroidism, Abnormal heart morphology, Sclerocornea, Tet...	ORPHA:42775
Andersen-Tawil Syndrome	Periodic paralysis, Periodic hyperkalemic paralysis, Periodic hypokalemic paresis	ORPHA:37553
Proboscis Lateralis	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	ORPHA:141099
Neuromuscular Oculoauditory Syndrome	Sensory axonal neuropathy, Peripheral hypomyelination	OMIM:618733
Fraser Syndrome 1	Bilateral microphthalmos, Anophthalmia	OMIM:219000
Oculoectodermal Syndrome	Astigmatism, Microcornea, Hypertrophic cardiomyopathy, Bladder exstrophy, Limbal dermoid, Atrial ...	OMIM:600268
Bohring-Opitz Syndrome	Failure to thrive, Delayed peripheral myelination	OMIM:605039
Mucoepithelial Dysplasia, Hereditary	Corneal neovascularization, Hematuria, Keratoconjunctivitis, Eosinophilia, Cataract, Opacificatio...	OMIM:158310
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele	ORPHA:1827
Microphthalmia, Syndromic 6	Polydactyly, Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Anterior hypopituitaris...	OMIM:607932
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Oculomotor apraxia, Oculogyric crisis, Spasticity, Tremor, Frequent falls, Dystonia, Ataxia, Chor...	OMIM:612716
Hereditary Acrokeratotic Poikiloderma	Abnormal hip bone morphology, Abnormal metacarpal morphology, Abnormal preputium morphology, Fing...	ORPHA:2907
African Trypanosomiasis	Myelitis, Fasciculations, Tremor, Involuntary movements, Hemiparesis, Papilledema, Myelopathy, We...	ORPHA:3385
Microphthalmia, Syndromic 2	Microphthalmia, Anophthalmia	OMIM:300166
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul...	OMIM:106210
Apolipoprotein A-I Deficiency	Abnormal circulating lipid concentration, Opacification of the corneal stroma, Decreased HDL chol...	ORPHA:425
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Anophthalmia	OMIM:305600
Lateral Meningocele Syndrome	Short stature, Meningocele, Hydrocephalus, Umbilical hernia	OMIM:130720
Rift Valley Fever	Paralysis, Decerebrate rigidity, Hemiparesis, Paraparesis	ORPHA:319251
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Incoordination, Decreased number of large peripheral myelinated nerve fibers	OMIM:223900
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Parkinsonism	ORPHA:1578
Charge Syndrome	Microphthalmia, Anophthalmia, Unilateral microphthalmos, Dysphagia, Self-mutilation	OMIM:214800
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Trisomy 18	Anencephaly, Spina bifida, Short stature, Growth delay, Holoprosencephaly, Intrauterine growth re...	ORPHA:3380
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Corneal dystrophy, Corneal opacity, Renal cyst, Buphthalmos, Cryptorchidism, Keratoc...	ORPHA:495875
Lateral Meningocele Syndrome	Meningocele, Umbilical hernia	ORPHA:2789
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity, Elevated circul...	OMIM:175780
Norrie Disease	Delayed puberty, Aplasia/Hypoplasia of the lens, Cachexia, Corneal opacity, Hypoplasia of the iri...	ORPHA:649
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic paralysis, Periodic hypokalemic paresis	OMIM:170390
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Spina bifida, Umbilical hernia	OMIM:613776
Xeroderma Pigmentosum	Craniofacial hyperostosis, Pterygium, Conjunctival telangiectasia, Failure to thrive, Decreased t...	ORPHA:910
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Rhizomelic leg shortening, Meningocele, Rhizomelic arm shortening, Short...	ORPHA:397715
Trisomy 20P	Spina bifida, Umbilical hernia	ORPHA:261318
Distal Renal Tubular Acidosis	Paralysis, Failure to thrive	ORPHA:18
Pineoblastoma	Paralysis, Papilledema	ORPHA:251909
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Optic nerve compression	OMIM:259730
Neu-Laxova Syndrome	Intrauterine growth retardation, Spina bifida	ORPHA:2671
Pagod Syndrome	Short stature, Spina bifida, Encephalocele, Meningocele	ORPHA:991
Phocomelia, Schinzel Type	Intrauterine growth retardation, Disproportionate short stature, Meningocele	ORPHA:2879
Coffin-Lowry Syndrome	Inguinal hernia, Bifid sternum, Hyperextensibility of the finger joints, Narrow iliac wing, Decre...	OMIM:303600
Nail-Patella Syndrome	Short stature, Spina bifida	OMIM:161200
Waardenburg Syndrome, Type 1	Myelomeningocele, Spina bifida	OMIM:193500
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Phakomatosis Pigmentokeratotica	Spina bifida	ORPHA:2874
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia	OMIM:113620
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Hallermann-Streiff Syndrome	Spina bifida, Proportionate short stature	OMIM:234100
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hydrocephalus, Occipital meningocele, Anencephaly	OMIM:616546
Gitelman Syndrome	Paralysis, Failure to thrive	ORPHA:358
Tyrosinemia, Type I	Failure to thrive, Periodic paralysis	OMIM:276700
Microphthalmia, Syndromic 1	Microphthalmia, Self-mutilation, Anophthalmia, Aggressive behavior	OMIM:309800
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Jacobsen Syndrome	Intrauterine growth retardation, Spina bifida, Short stature, Growth delay	ORPHA:2308
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
Neu-Laxova Syndrome 1	Short umbilical cord, Stillbirth, Small placenta, Hydranencephaly, Spina bifida, Neonatal death, ...	OMIM:256520
Neurofibromatosis, Type I	Short stature, Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Opacification of the corneal stroma	ORPHA:79280
Fanconi Anemia	Hydrocephalus, Spina bifida, Growth delay, Short stature, Umbilical hernia, Intrauterine growth r...	ORPHA:84
Orofaciodigital Syndrome Vi	Short stature, Occipital meningocele	OMIM:277170
Holoprosencephaly 7	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Oc...	OMIM:610828
22Q11.2 Deletion Syndrome	Meningocele, Hydrocephalus, Spina bifida, Short stature, Umbilical hernia, Intrauterine growth re...	ORPHA:567
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent corneal erosions, Corneal neovascularization, Hypospadias, Unilateral renal agenesis, I...	OMIM:308205
Vater/Vacterl Association	Postnatal growth retardation, Occipital encephalocele, Spina bifida, Patent urachus, Intrauterine...	OMIM:192350
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short stature, Spina bifida	ORPHA:508498
Tsh-Secreting Pituitary Adenoma	Periodic hypokalemic paresis, Tremor, Weight loss	ORPHA:91347
Campomelic Dysplasia	Neonatal short-limb short stature, Disproportionate short-limb short stature, Hydrocephalus, Spin...	OMIM:114290
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele	ORPHA:1010
Aicardi Syndrome	Postnatal growth retardation, Spina bifida	OMIM:304050
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
Craniofacial Microsomia 1	Microphthalmia, Anophthalmia	OMIM:164210
Rubinstein-Taybi Syndrome 1	Postnatal growth retardation, Spina bifida occulta, Spina bifida, Growth delay, Short stature	OMIM:180849
Arima Syndrome	Growth delay, Occipital meningocele	OMIM:243910
Knobloch Syndrome 1	Occipital encephalocele, Occipital meningocele, Spina bifida occulta	OMIM:267750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Megalocornea, Elevated circulating creatine kinase concentration, Cataract, Opacific...	OMIM:253280
Cutis Laxa, Autosomal Recessive, Type Ib	Neonatal death, Spina bifida	OMIM:614437
Otopalatodigital Syndrome, Type Ii	Postnatal growth retardation, Stillbirth, Hydrocephalus, Spina bifida, Short stature, Umbilical h...	OMIM:304120
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Spina bifida	OMIM:619480
Femoral-Facial Syndrome	Short stature, Encephalocele, Spina bifida	OMIM:134780
Marfan Syndrome	Meningocele	ORPHA:558
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Disproportionate short stature, Occipital meningocele	OMIM:276820

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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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

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