Gene Summary

Name:
teneurin transmembrane protein 4
Synonyms:
ELM2,  Ten-m4,  Doc4,  Odz4,  l(7)-3Rn,  l7Rn3

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased grip strength Tenm4em1(IMPC)Tcp HOM Late adult 1.01×10-06
abnormal sternum morphology Tenm4em1(IMPC)Tcp HOM Late adult 0.00
increased circulating chloride level Tenm4em1(IMPC)Tcp HOM Late adult 6.24×10-06
decreased bone mineral density Tenm4em1(IMPC)Tcp HOM Late adult 1.71×10-06
increased basophil cell number Tenm4em1(IMPC)Tcp HOM Early adult 5.19×10-06
decreased thigmotaxis Tenm4em1(IMPC)Tcp HOM   Early adult 6.78×10-05
decreased heart weight Tenm4em1(IMPC)Tcp HOM Late adult 3.47×10-05
decreased grip strength Tenm4em1(IMPC)Tcp HOM Early adult 1.35×10-07
small adrenal glands Tenm4em1(IMPC)Tcp HOM Late adult 0.00
decreased total body fat amount Tenm4em1(IMPC)Tcp HOM Late adult 8.05×10-05
corneal opacity Tenm4em1(IMPC)Tcp HOM Late adult 8.50×10-07
decreased lean body mass Tenm4em1(IMPC)Tcp HOM Late adult 8.54×10-06
decreased spleen weight Tenm4em1(IMPC)Tcp HOM Late adult 9.18×10-05
short tibia Tenm4em1(IMPC)Tcp HOM Early adult 4.74×10-05
enlarged urinary bladder Tenm4em1(IMPC)Tcp HOM Late adult 0.00
increased circulating sodium level Tenm4em1(IMPC)Tcp HOM Late adult 1.97×10-06
decreased fasting circulating glucose level Tenm4em1(IMPC)Tcp HOM Early adult 6.13×10-06
anophthalmia Tenm4em1(IMPC)Tcp HOM Early adult 0.00
increased bone mineral content Tenm4em1(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 Slit Lamp

114 Images

Eye Morphology

Images Ophthalmoscopy

97 Images

Histopathology

Images

2 Images

Gross Pathology and Tissue Collection

Images

9 Images

Eye Morphology

Images Ophthalmoscopy

161 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Histopathology

Images

24 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

10 Images

Eye Morphology

Images Slit Lamp

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

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.

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
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Roussy-Levy Hereditary Areflexic Dystasia
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Acti... OMIM:180800
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Progressive g... ORPHA:208981
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis, Optic atrophy OMIM:311050
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, CNS demyelination, Peripheral demyelination, Hemiparesis, Ataxia OMIM:165200
Pelizaeus-Merzbacher Disease
Optic atrophy, Sudanophilic leukodystrophy, Head titubation, Choreoathetosis, Failure to thrive, ... OMIM:312080
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:614895
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... OMIM:162500
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... OMIM:607734
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Rigidity, Chorea, Peripheral demyelination, Abnormality of extrapyramidal motor func... OMIM:617672
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Decreased motor nerve conduction velocity, Decreased number of large peripheral myelin... OMIM:605285
Autosomal Recessive Spastic Paraplegia Type 71
Babinski sign, Abnormal myelination, Hand tremor, Spastic gait, Lower limb spasticity, Progressiv... ORPHA:401840
Null Syndrome
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Ataxia, CNS hypomye... ORPHA:280234
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis OMIM:616566
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... OMIM:118651
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy DECIPHER:59
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Axonal loss, Motor conduction block, Symmetric periphe... ORPHA:206594
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... OMIM:112910
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Spastic Paraplegia With Neuropathy And Poikiloderma
Spastic paraplegia, Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor n... OMIM:182815
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Axonal loss, Peripheral demyelination, Myoclonus, Gliosis, Apraxia, Spasticity, Ab... OMIM:221770
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Gliosis, Axonal degeneration, Fasciculations, Tetraplegia, Decreased number of perip... OMIM:604484
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Segmental peripheral d... OMIM:606482
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral demyelination, Peripheral axonal neuropathy, Paraparesis ORPHA:231445
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Babinski sign, Decreased motor nerve conduction velocity, Optic atrophy, Ax... OMIM:609260
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Segmental peripheral demyelination, Segmental peripheral demyelination/remy... OMIM:606483
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segm... OMIM:601098
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Frequent falls OMIM:618279
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Babinski sign, CNS demyelination, Peripheral demyelination, Decreased nerve conduction velocity, ... OMIM:249900
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Leukodystrophy, Tremor, Ataxia, Spasticity, Hemiple... OMIM:614561
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Peripheral axonal neuropathy, Tremor, Ataxia, Spasticity OMIM:611105
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Peripheral demyelination, Polyneuritis, Decreased nerve conduction velocity OMIM:162600
Neuromyelitis Optica Spectrum Disorder
Paraplegia, Peripheral demyelination, Myelitis ORPHA:71211
Winchester Syndrome
Corneal opacity, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the... OMIM:277950
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Parkinsonism, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:105500
Neuronopathy, Distal Hereditary Motor, Type Viib
Vocal cord paralysis, Facial palsy, Abnormal lower motor neuron morphology OMIM:607641
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Leri-Weill Dyschondrosteosis
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... OMIM:127300
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Chorea, Peripheral demyelination, ... ORPHA:397946
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Peri... OMIM:118200
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis, Axonal loss, Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... ORPHA:1972
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Cogwh... ORPHA:497764
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Progressive Multifocal Leukoencephalopathy
Weakness due to upper motor neuron dysfunction, CNS demyelination, Abnormal oligodendroglia morph... ORPHA:217260
Mucolipidosis Type Iii
Abnormal aortic valve morphology, Hypoplastic inferior ilia, Reduced bone mineral density, Abnorm... ORPHA:577
Krabbe Disease
Progressive spasticity, Optic atrophy, CNS demyelination, Failure to thrive, Peripheral demyelina... OMIM:245200
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Charcot-Marie-Tooth Disease, Type 4J
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal loss, Frequent falls, Dec... OMIM:611228
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Frequent falls, Peripheral demyelination, Vocal cord... ORPHA:101097
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Babinski sign, Clonus, Peripheral axonal neuropathy, Optic atrophy, Spastic... OMIM:615035
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... OMIM:601596
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:607706
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Myel... OMIM:118220
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Monomelic Amyotrophy
Tremor, Abnormality of peripheral nerve conduction, Fasciculations, Degeneration of anterior horn... ORPHA:65684
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Clumsiness, Hypertonia, Slurred speech, Tetraparesis, Decreased number of peripheral myelinated n... ORPHA:2386
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormality of the metaphysis, Reduced bone mineral density, Brachydactyly, Corneal opacity, Hip ... ORPHA:2370
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
CNS demyelination, Failure to thrive, Peripheral demyelination, Gliosis, Tremor, Ataxia OMIM:220111
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Chronic Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Peripheral demyelination, Decreased nerve conduction velocity, Abnormal n... ORPHA:2932
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius, Mixed sclerosis... OMIM:601376
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614495
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Peripheral demyelination, Decreased number of large peripheral myelinated n... OMIM:608340
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Leukodystrophy, Spasticity OMIM:616494
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Peripheral demyelination, Axonal loss OMIM:616684
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614496
Glutathionuria
Tremor OMIM:231950
Amyotrophic Lateral Sclerosis 4, Juvenile
Babinski sign, Clonus, Peripheral axonal degeneration, Diffuse axonal swelling, Pallor of dorsal ... OMIM:602433
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration OMIM:615185
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Optic atrophy, Peripheral demyelination, Spastic tetraplegia OMIM:618237
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Spinocerebellar Ataxia 43
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia OMIM:617018
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Diabetes insipidus, Hypernatremia, Failure to thrive, Megacystis, Polyuria OMIM:304800
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Failure to thrive, Megacystis, Nephrogenic diabetes insipidus, Polyuria OMIM:125800
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:118210
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Babinski sign, Peripheral axonal degeneration, Chorea,... OMIM:604168
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Microphthalmia, Talipes equinovarus, Camptodact... OMIM:206920
Webb-Dattani Syndrome
Hydronephrosis, Diabetes insipidus, Hypernatremia, Decreased response to growth hormone stimulati... OMIM:615926
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... OMIM:612447
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology, Decreased mo... OMIM:605253
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Micrognathia, Microphthalmia OMIM:221950
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decre... OMIM:608673
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Hypertrophic Neuropathy Of Dejerine-Sottas
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Decr... OMIM:145900
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microcornea, Corneal opacity, Large for gestational age ORPHA:2432
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia, Failure to thrive, Hematuria, Weight loss, Nephrolithiasis, Renal i... ORPHA:35710
Meckel Syndrome, Type 8
Microphthalmia, Polydactyly, Talipes equinovarus, Anophthalmia, Postaxial hand polydactyly OMIM:613885
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination, Gait ataxia OMIM:258650
Porphyria, Acute Hepatic
Paralysis, Respiratory paralysis, Failure to thrive OMIM:612740
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Peripheral axonal neuropathy, Frequent falls, Myoclonus, Fasciculations, Tremor, A... OMIM:607317
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination OMIM:311070
Endove Syndrome, Limb-Only Type
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... OMIM:619217
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Sensory axonal neuropathy, Tremor OMIM:612437
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Babinski sign, Tremor OMIM:300660
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Babinski sign, Pseudobulbar paralysis, Symmetric peripheral demyelination, Gliosis, Leukodystroph... OMIM:169500
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Microphthalmia, Syndromic 12
Anophthalmia, Micrognathia, Microphthalmia OMIM:615524
Spinocerebellar Ataxia 25
Babinski sign, Decreased number of peripheral myelinated nerve fibers, Ataxia OMIM:608703
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Onion bulb formation, Babinski sign, Decreased motor nerve conduction velocity, Peripheral axonal... OMIM:302800
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Glut1 Deficiency Syndrome 1
Paralysis, Babinski sign, Choreoathetosis, Myoclonus, Hemiparesis, Ataxia, Spasticity OMIM:606777
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Acute demyelinating polyneuropathy ORPHA:98916
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Nephrogenic Diabetes Insipidus
Hypernatremia, Failure to thrive, Enuresis nocturna, Functional abnormality of the bladder, Nephr... ORPHA:223
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Motor conduction block, ... ORPHA:99953
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Peripheral hypomyelination, Decreased number of peripheral myelinated nerve... OMIM:609311
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Charcot-Marie-Tooth Disease, Type 4B2
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... OMIM:604563
Chronic Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Hypernatremia, Neonatal hyperbilirubinemia, Conjunctival icterus... ORPHA:529808
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:605588
Acute Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Hypernatremia, Neonatal hyperbilirubinemia, Conjunctival icterus... ORPHA:529799
Developmental And Epileptic Encephalopathy 14
Clonus, Gliosis, Tetraplegia, Spasticity, Delayed myelination OMIM:614959
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemiparesis, Ataxia, Hy... ORPHA:71277
Spinocerebellar Ataxia Type 25
Babinski sign, Decreased number of large peripheral myelinated nerve fibers, Spastic dysarthria, ... ORPHA:101111
Dyschondrosteosis And Nephritis
Radial bowing, Ulnar bowing, Short forearm, Short tibia OMIM:127350
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Peripheral demyelination, Ataxia, Hyp... OMIM:609033
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Myoclonus, Tremor OMIM:611092
Adult Krabbe Disease
Clumsiness, Babinski sign, Hoffmann sign, CNS demyelination, Frequent falls, Peripheral demyelina... ORPHA:206448
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination, Decreased nerve conduction velocity ORPHA:99944
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus OMIM:616921
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2956
Galloway-Mowat Syndrome 5
Ataxia, Peripheral demyelination, Spasticity OMIM:617731
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Gliosis, Amyotrophic lateral sclerosis, Extrapyramidal dyskinesia, Paraparesis, Abnormal lower mo... OMIM:105550
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Spinocerebellar Ataxia 18
Babinski sign, Dysmetria, Progressive gait ataxia, Sensory axonal neuropathy, Tremor, Dysdiadocho... OMIM:607458
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Peripheral axonal neuropathy OMIM:613710
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Parkinson Disease 2, Autosomal Recessive Juvenile
Rigidity, Bradykinesia, Tremor, Substantia nigra gliosis, Parkinsonism OMIM:600116
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... OMIM:214400
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Babinski sign, Clonus, Abnormality of the spinal cord,... ORPHA:139578
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Spinocerebellar Ataxia 37
Tremor, Ataxia, Frequent falls OMIM:615945
Spinocerebellar Ataxia 23
Babinski sign, CNS demyelination, Dysmetria, Tremor, Limb ataxia, Gait ataxia OMIM:610245
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Hepatomegaly, Corneal opacity, Thrombocytopenia ORPHA:1980
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... OMIM:260300
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Frequent falls ORPHA:494526
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Leukocytosis, Thrombocytosis, Myoglobinuria, Hypernatremia, Elevated ... ORPHA:94093
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Gliosis, Tremor, Ataxia, Incoordination, Spasticity, Limb ataxia, Gait ataxia OMIM:213200
Adrenal Hypoplasia, Congenital
Hyponatremia, Adrenal insufficiency, Decreased circulating aldosterone level, Failure to thrive, ... OMIM:300200
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Optic atrophy, Poor coordination, Dysmetria, Spastic ataxia, Tremor, A... OMIM:270500
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Atax... ORPHA:101110
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Cardiomyopathy, Hernia, Splenomegaly, Abnormal heart va... ORPHA:93476
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Peripheral axonal neuropathy, Decreased motor nerve conduction velocity OMIM:610100
Abetalipoproteinemia
Ataxia, Peripheral demyelination, CNS demyelination OMIM:200100
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Failure to thrive, Increased... OMIM:610600
Mucous Membrane Pemphigoid
Atypical scarring of skin, Corneal opacity ORPHA:46486
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypernatremia, Neonatal hyperbilirubinemia, Lacticaciduria, Increased level of L-gl... ORPHA:3008
Ophthalmomandibulomelic Dysplasia
Abnormality of bone mineral density, Aplasia/Hypoplasia of the radius, Symphalangism affecting th... ORPHA:2741
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Congenital hypothyroidism, Failure to thrive, Renal salt wasting, Cry... OMIM:614736
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Spastic Paraplegia 11, Autosomal Recessive
Babinski sign, Knee clonus, Obesity, Spastic gait, Lower limb spasticity, Ataxia, Ankle clonus, S... OMIM:604360
Alpha-Mannosidosis
Hepatomegaly, Type II diabetes mellitus, Bowing of the long bones, Hypoplastic inferior ilia, Art... ORPHA:61
Microcephaly-Micromelia Syndrome
Micrognathia, Microphthalmia, Talipes equinovarus, Absent radius, Forearm undergrowth, Oligodacty... OMIM:251230
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Blount Disease
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the knee, Abnormality... ORPHA:2768
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin... OMIM:300971
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination, Small for gestational age OMIM:616733
Sialidosis Type 2
Hepatomegaly, Osteoporosis, Inguinal hernia, Splenomegaly, Corneal opacity, Flexion contracture, ... ORPHA:87876
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Decre... ORPHA:90103
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Myoclonus, Facial palsy, Fasciculations, Tremor, Tongue fasciculations, Degenerat... OMIM:159950
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... ORPHA:79262
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Failur... OMIM:264350
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Renal salt wasting, Hypokalemia, Increased urinary potassium, Failure to thrive, Hy... OMIM:613090
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:600882
Hartsfield Syndrome
Hypospadias, Diabetes insipidus, Hypernatremia, Craniosynostosis, Gonadotropin deficiency, Microp... OMIM:615465
Metachromatic Leukodystrophy
Babinski sign, Optic atrophy, Chorea, Peripheral demyelination, Decreased nerve conduction veloci... OMIM:250100
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
CNS demyelination, Rigidity, Gliosis, Bradykinesia, Apraxia, Spasticity OMIM:221820
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Peripheral axonal neuropathy OMIM:619099
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Migraine, Familial Hemiplegic, 1
Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Failure to thrive, Hypochloremia... OMIM:214700
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Developmental cataract, Hypospadias, Micrope... OMIM:618815
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Weakness due to upper motor neuron dysfunction, Gliosis, Abnormality of extrapyram... ORPHA:275872
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Obesity, Tremor, Ataxia, Incoordination, Abnormal pyramidal sign OMIM:614947
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia, Congenital hip dislocation OMIM:164180
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Paralysis, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Gait ataxia OMIM:606183
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Contracture of the proxima... OMIM:601559
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Failure to thrive, Renal sal... OMIM:203400
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Rigidity, Bradykinesia, Decreased amplitude of sensory... OMIM:619279
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... ORPHA:93356
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Renal salt wasting, Hypokalemia, Increased urinary potassium, Failure to thrive, Hy... OMIM:602522
Bartter Syndrome, Type 1, Antenatal
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Renal potassium wasting, Hyperaldos... OMIM:601678
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Ventricular septal defect, Hypernatremia, Pulmonic stenosis OMIM:615508
Mirage Syndrome
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Hypospadias, Radial club hand, Leukopenia, Roc... OMIM:617053
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Axonal loss, Decreased nerve conduction velocity, Segmental peripheral demy... OMIM:601455
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal sodium wasting, Elevat... ORPHA:556037
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... ORPHA:98964
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Central hypothyroidism, Neutropenia, Metaphyseal dysplasia, Iron defi... ORPHA:1667
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia OMIM:615362
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Ataxia, Apraxia, Spasticity OMIM:615889
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Failure to thrive in infancy, Weight loss, Abnormal circulating aldos... ORPHA:171876
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Horner Syndrome, Congenital
Paralysis OMIM:143000
Spastic Ataxia, Charlevoix-Saguenay Type
Onion bulb formation, Babinski sign, Decreased motor nerve conduction velocity, Progressive trunc... OMIM:270550
Dermoids Of Cornea
Corneal opacity OMIM:304730
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Failure to thrive OMIM:618951
Cystinosis
Renal tubular dysfunction, Hypokalemia, Rickets, Failure to thrive, Hypophosphatemia, Corneal opa... ORPHA:213
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... ORPHA:988
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal sodium wasting, Elevat... ORPHA:556030
Osteoporosis-Pseudoglioma Syndrome
Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,... ORPHA:2788
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortisol level, Osteoporosis... OMIM:615830
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations OMIM:615048
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Failur... OMIM:177735
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Rigidity, Choreoathetosis, Cerebral hypomyelination, Leukodystrophy, Tremor, Ataxi... OMIM:612438
Behr Syndrome
Progressive spasticity, Babinski sign, Optic atrophy, Dysmetria, Tremor, Ataxia OMIM:210000
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Anemia, Aplasia/Hypoplasia of the iris, Abnormality of t... ORPHA:290
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Tremor by anatomical site, Bradykinesia, Intention tremor, Limb dy... ORPHA:98762
Central Diabetes Insipidus
Hyponatremia, Diabetes insipidus, Failure to thrive, Weight loss, Nocturia ORPHA:178029
Microcephaly 10, Primary, Autosomal Recessive
Small for gestational age, Gliosis, Hypertonia, Spasticity, CNS hypomyelination, Delayed myelination OMIM:615095
Galactosialidosis
Corneal opacity ORPHA:351
Spinocerebellar Ataxia, Autosomal Recessive 27
Frequent falls, Torticollis, Gliosis, Spasticity, Gait ataxia OMIM:618369
Leukodystrophy, Hypomyelinating, 5
Onion bulb formation, Babinski sign, Decreased motor nerve conduction velocity, Truncal titubatio... OMIM:610532
Charcot-Marie-Tooth Disease Type 4A
Poor gross motor coordination, Motor conduction block, Decreased number of large peripheral myeli... ORPHA:99948
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Limb ataxia OMIM:615768
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Leukopenia,... OMIM:267700
Aicardi-Goutieres Syndrome 6
Tremor, Leukodystrophy, Rigidity OMIM:615010
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormone deficiency, ... ORPHA:91354
Autosomal Dominant Spastic Ataxia Type 1
Babinski sign, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia, Tremor, H... ORPHA:251282
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Parkinsonism, Optic atrophy, Rigidity, Frequent falls, Chorea, Tremor, Spasticity, Up... ORPHA:216873
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae ORPHA:1436
Anencephaly 2
Anophthalmia OMIM:619452
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Macrocytic anemia, Generalized bone demineralization, Normocytic ane... ORPHA:199299
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Torticollis, Bradykinesia, Cogwheel rigidity, Parkinsonism with f... OMIM:128230
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral demyelination, Decreased nerve conduction velocity, Spastic tetraplegia, Myelin outfol... OMIM:609136
Addison Disease
Androgen insufficiency, Adrenal hypoplasia, Type I diabetes mellitus, Premature ovarian insuffici... ORPHA:85138
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Leukopenia, Failure to thrive, Chronic kidney disease, Anemia, Hyperuricemia, Hypom... OMIM:613845
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Microphthalmia With Limb Anomalies
Talipes equinovarus, Finger syndactyly, Short long bone, Short tibia, Toe syndactyly, Micrognathi... ORPHA:1106
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Glutaric Acidemia I
Opisthotonus, Rigidity, Choreoathetosis, Failure to thrive, Symmetrical progressive peripheral de... OMIM:231670
Legionnaires Disease
Myocarditis, Hyponatremia, Pericarditis, Endocarditis, Lymphadenopathy, Hematuria, Hepatitis, Bon... ORPHA:549
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Abnormality of femur mor... ORPHA:3344
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Cardiac myxoma, Increased urinary cortisol level, Type II diabetes mellitus,... ORPHA:189439
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Babinski sign, Optic atrophy, Frequent falls, Hand tremor, Abnormality of the sp... ORPHA:99947
Huntington Disease
Rigidity, Chorea, Gliosis, Bradykinesia, Gait ataxia OMIM:143100
Spinocerebellar Ataxia 7
Babinski sign, Optic atrophy, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tr... OMIM:164500
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Decreased number of large peripheral myelinated nerve fibers, Cho... OMIM:208920
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Hypertrophic cardiomyopathy, Decreased circula... ORPHA:361
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormality of the Leydig cells, Elevated circulating follicle stimulating hormone level, Midshaf... ORPHA:289548
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Axonal loss, Decreased number of large peripheral myel... ORPHA:98856
Alg8-Cdg
Hyponatremia, Small for gestational age, Failure to thrive, Anemia, Abnormality of subcutaneous f... ORPHA:79325
Parkinson Disease 19A, Juvenile-Onset
Rigidity, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Parkinsonism OMIM:615528
Orofaciodigital Syndrome Iv
Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl... OMIM:258860
Eiken Syndrome
Abnormal acetabulum morphology, Narrow pelvis bone, Metaphyseal irregularity, Epiphyseal dysplasi... ORPHA:79106
Congenital Isolated Acth Deficiency
Hyponatremia, Hepatitis, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:199296
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Ax... OMIM:218000
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:162400
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the radius, Sandal gap, Short humerus,... OMIM:607143
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia, Failure to thrive OMIM:143860
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Peripheral axonal neuropathy OMIM:616668
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology, Hyponatremia ORPHA:3225
Hereditary Coproporphyria
Hyponatremia, Hepatocellular carcinoma, Porphyrinuria, Dark urine, Increased urinary porphobilino... ORPHA:79273
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:168100
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Lethal Congenital Contracture Syndrome 7
Paralysis, Facial diplegia OMIM:616286
Molybdenum Cofactor Deficiency, Complementation Group B
Axonal loss, Myoclonic spasms, Opisthotonus, Peripheral demyelination, Gliosis, Spastic tetrapleg... OMIM:252160
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Babinski sign, Clonus, Optic atrophy, Myoclonic spasms, Rigidity, Gliosis, Hypertonia, Delayed my... OMIM:614498
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Axonal loss, Dysmetria, Tremor, Ataxia, Tongue fasciculations OMIM:618170
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormality of the Leydig cells, Elevated circulating follicle stimulating hormone level, Midshaf... ORPHA:168558
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Microscopic hematuria, Chronic kidney disease, Hyponatremia, Hypocalcemic tetan... ORPHA:411634
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Irregular myelin loops, Facial palsy OMIM:601382
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Tremor, Ataxia, Delayed CNS myelination, Spasticity OMIM:300983
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Hyponatremia, Increased serum testosterone level, Decreased circulating aldosterone... ORPHA:90791
Lichtenstein-Knorr Syndrome
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Motor Neuropathy, Peripheral, With Dysautonomia
Peripheral demyelination, Decreased nerve conduction velocity OMIM:252320
Hyperphenylalaninemia, Bh4-Deficient, A
Rigidity, Choreoathetosis, Small for gestational age, Bradykinesia, Tremor, Ataxia, Hypertonia, P... OMIM:261640
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Hurler Syndrome
Hepatomegaly, Coxa valga, Diaphyseal thickening, Short clavicles, Hypoplasia of the femoral head,... OMIM:607014
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Vocal cord paralysis, Peripheral axonal n... OMIM:615490
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia, Decreased nerve conduction velocity ORPHA:1368
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Hashimoto thyroiditis, Goiter, Hypothyroidism, Thrombocytopenia ORPHA:83601
Cystinosis, Nephropathic
Rickets, Splenomegaly, Primary hypothyroidism, Microscopic hematuria, Diabetes mellitus, Polyuria... OMIM:219800
Spinocerebellar Ataxia Type 37
Myoclonus, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis, Truncal ataxia ORPHA:363710
Gracile Bone Dysplasia
Thin ribs, Asplenia, Aniridia, Failure to thrive, Decreased skull ossification, Micropenis, Brach... OMIM:602361
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal... ORPHA:1067
Encephalopathy, Progressive, With Or Without Lipodystrophy
Myoclonus, Tremor, Ataxia, Tetraparesis, Spasticity, Abnormal pyramidal sign OMIM:615924
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Abnormal lower m... ORPHA:2590
Spinocerebellar Ataxia 48
Babinski sign, Cachexia, Dysmetria, Chorea, Tremor, Ataxia, Parkinsonism, Gait ataxia OMIM:618093
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Failure to thrive, Abnormal CNS myelination, Tremor, Spastic paraplegia ORPHA:477673
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Peripheral axonal neuropathy, Dysmetria, Tremor, Ataxia, Gait ataxia OMIM:618387
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Dystonia 11, Myoclonic
Torticollis, Myoclonus, Tremor OMIM:159900
Spinocerebellar Ataxia 17
Rigidity, Dysmetria, Chorea, Gliosis, Myoclonus, Bradykinesia, Intention tremor, Ataxia, Apraxia,... OMIM:607136
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Syndactyly, Abnormal pelvis bone morphology, Abnormal foot... ORPHA:1505
Mietens Syndrome
Metatarsus adductus, Coxa valga, Elbow ankylosis, Sclerocornea, Avascular necrosis of the capital... ORPHA:2557
Variegate Porphyria
Paralysis OMIM:176200
Paragangliomas 2
Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Vagal paraganglioma, Glomus ... OMIM:601650
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Metaphyseal widening, Short ribs, Coarse metaphyseal trabecularization, Corneal opacity, Short lo... OMIM:618961
Sanjad-Sakati Syndrome
Hypoparathyroidism, Congenital hypoparathyroidism, Patchy osteosclerosis, Small hand, Abnormal de... ORPHA:2323
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Tremor, Spastic parapare... ORPHA:101077
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tremor, Parkinsonism with favo... ORPHA:314632
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Hypernatremia, Lymphadenopathy, T lymph... OMIM:619381
Erythrokeratodermia Variabilis
Tapered finger, Weight loss, Abnormal testis morphology, Corneal opacity, Cataract, Diabetes mell... ORPHA:317
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Trem... ORPHA:240103
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Spastic paraplegia OMIM:600363
Bartter Syndrome, Type 2, Antenatal
Renal salt wasting, Hyperactive renin-angiotensin system, Chondrocalcinosis, Hypokalemia, Nephroc... OMIM:241200
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Progressive spasticity, Babinski sign, Abnormality of the dorsal column of the spinal... ORPHA:137898
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... ORPHA:85188
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Primary hypercortisolism, Increased circul... OMIM:219080
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Hyponatremia, Purple urine, Myeloproliferative disorder, Increased uri... ORPHA:100924
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Hepatomegaly, Leukopenia, Lymphadenopathy, Failure to thrive, Anem... OMIM:603553
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Adducted thumb, Hernia, Osteopenia, Hip dislocation, Corneal opacity, Uni... OMIM:616603
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607831
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... ORPHA:3453
Parkinson Disease 22, Autosomal Dominant
Tremor, Resting tremor, Bradykinesia OMIM:616710
Autosomal Dominant Cerebellar Ataxia
Long-tract signs, Torticollis, Fasciculations, Paraparesis, Tongue fasciculations, Abnormal pyram... ORPHA:99
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor OMIM:606438
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia ORPHA:98763
Short Syndrome
Posterior embryotoxon, Hypoplasia of the iris, Weight loss, Lipodystrophy, Abnormal dental enamel... ORPHA:3163
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypertonia, Myoclonus, Choreoathetosis OMIM:261630
Gabriele-De Vries Syndrome
Tremor, Delayed myelination OMIM:617557
Alg12-Cdg
Hypospadias, Decreased serum insulin-like growth factor 1, Proximal placement of thumb, Abnormal ... ORPHA:79324
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Increased serum testosterone level, Hyperactive renin-angiote... ORPHA:90794
Wilson Disease
Hemolytic anemia, Hepatomegaly, High nonceruloplasmin-bound serum copper, Hypoparathyroidism, Ren... OMIM:277900
Machado-Joseph Disease Type 3
Clumsiness, Babinski sign, Peripheral axonal neuropathy, Vocal cord paralysis, Abnormality of ext... ORPHA:276244
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Opacification of the corneal stroma, Recurrent corn... ORPHA:98960
Familial Dysautonomia
Hyponatremia, Corneal erosion, Abnormality of the peritoneum, Heterochromia iridis, Abnormal pupi... ORPHA:1764
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Truncal ataxia, Tremor OMIM:616127
Whipple Disease
Myocarditis, Hyponatremia, Hepatomegaly, Cachexia, Pericarditis, Mediastinal lymphadenopathy, Ane... ORPHA:3452
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Rigidity, Tremor, Ataxia, Hypertonia, Spasticity ORPHA:33445
Panhypophysitis
Hyponatremia, Increased circulating prolactin concentration, Hashimoto thyroiditis, Abnormal size... ORPHA:95513
Autosomal Recessive Spastic Paraplegia Type 35
Babinski sign, Optic atrophy, Frequent falls, Dysmetria, Peripheral demyelination, Lower limb spa... ORPHA:171629
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Abnormal sensory nerve conduction velocity, Fasciculations, Tongue fasciculations ORPHA:276435
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hip contracture, Protrusio acetabuli, Distal tapering of metatarsals, Osteoporosis, Metacarpal os... OMIM:259600
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Abnormal nerve conduction velocity ORPHA:101075
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Mucopolysaccharidosis Type 4
Mucopolysacchariduria, Abnormality of epiphysis morphology, Bowing of the long bones, Abnormal de... ORPHA:582
Adenohypophysitis
Hyponatremia, Adrenocorticotropic hormone deficiency, Abnormal size of pituitary gland, Decreased... ORPHA:95512
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... ORPHA:166016
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Proximal placement of thumb, Finger syndactyly, Postaxial foot poly... ORPHA:139471
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Failure to thrive, Hyponatremia OMIM:618426
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Increased urinary disaccharide excretion, Broad tibial met... OMIM:271630
Shigellosis
Myocarditis, Hyponatremia, Leukocytosis, Conjunctivitis, Splenic abscess, Failure to thrive in in... ORPHA:810
Trisomy 13
Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Postaxial hand polydactyly, Abnorma... ORPHA:3378
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism OMIM:612953
Pontocerebellar Hypoplasia, Type 4
Myoclonus, Gliosis, Hypertonia, Spasticity OMIM:225753
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Micropenis, Ventricular septal defect, Rocker bottom foot, Arthrogryposis multiplex ... OMIM:301056
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... ORPHA:2378
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Abnormality of extrapyramidal mot... ORPHA:320406
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Decreased circulating aldosterone level, Failu... ORPHA:427
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Increased VLDL ... OMIM:136120
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Carpenter Syndrome 1
Omphalocele, Genu varum, Joint contracture of the hand, Deviation of finger, Shallow acetabular f... OMIM:201000
Slc35A2-Cdg
Metatarsus adductus, Talipes equinovarus, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:356961
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Hypophosphatemia, Proximal renal tubular acidosis, Abnormal dental enamel morphology... ORPHA:534
Hypermanganesemia With Dystonia 2
Babinski sign, Bradykinesia, Tremor, Ankle clonus, Spasticity, Parkinsonism OMIM:617013
Morquio Syndrome C
Corneal opacity OMIM:252300
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Ataxia, Tremor OMIM:617917
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Androgen insufficiency, Normocytic anemia, Decreased c... ORPHA:95409
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Nephrocalcinosis, Increased urin... ORPHA:89938
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism OMIM:614203
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Molybdenum Cofactor Deficiency, Complementation Group A
Axonal loss, Myoclonic spasms, Opisthotonus, Peripheral demyelination, Gliosis, Spastic tetrapleg... OMIM:252150
Tangier Disease
Facial diplegia, Peripheral demyelination, Peripheral axonal neuropathy OMIM:205400
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Hematuria, Iris coloboma, Corneal opacity, Cataract ORPHA:1473
Atelosteogenesis Type Iii
Fibular aplasia, Micrognathia, Club-shaped distal femur, Knee dislocation, Distal tapering femur,... ORPHA:56305
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Glucocortocoid-insensitive primary ... ORPHA:404
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Scissor gait, Bradykinesia, Tremor, Ankle clonus, Spasticity, Parkinsonism ORPHA:521406
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Glucocortocoid-insensitive primary ... ORPHA:251274
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Al-Gazali Syndrome
Hydronephrosis, Sclerocornea, Failure to thrive, Broad distal phalanx of finger, Wrist flexion co... OMIM:609465
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Secretory adrenocortical adenoma, D... ORPHA:403
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Splenomegaly, Corneal opa... ORPHA:79292
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Spinocerebellar Ataxia 2
Postural tremor, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Oculomotor apraxia... OMIM:183090
Anophthalmia Plus Syndrome