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Gene: Egr2 MGI:95296

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

early growth response 2

Synonyms:

Krox20, Egr-2, Zfp-25, Krox-20, NGF1-B

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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.

Phenotype associated images not available

Human diseases caused by Egr2 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 Egr2 (3 diseases)
Human diseases predicted to be associated with Egr2 (1928 diseases)

The table below shows human diseases associated to Egr2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Decreased motor nerve conduction velocity, Respiratory insufficiency, Peripheral hypomyelination,...	OMIM:605253
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D	Decreased motor nerve conduction velocity, Steppage gait	OMIM:607678
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:145900

The table below shows human diseases predicted to be associated to Egr2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy	OMIM:311050
Charcot-Marie-Tooth Disease, Type 4J	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Axonal loss, Peri...	OMIM:611228
Spastic Paraplegia 25, Autosomal Recessive	Spinal cord compression	OMIM:608220
Null Syndrome	Ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Inability to wa...	ORPHA:280234
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Symme...	ORPHA:206594
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Autosomal Recessive Spastic Paraplegia Type 57	Inability to walk, Babinski sign, Spastic paraplegia, Optic atrophy, Abnormal myelination, Spasti...	ORPHA:431329
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi...	OMIM:601098
Pulmonic Stenosis And Deafness	Ventricular hypertrophy, Pulmonic stenosis	OMIM:178651
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Pulmonic Stenosis	Pulmonic stenosis	OMIM:265500
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Vocal cord paralysis, Respiratory insufficiency	ORPHA:640
Leukodystrophy, Hypomyelinating, 18	Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity, Babinski sign, Spa...	OMIM:618404
X-Linked Charcot-Marie-Tooth Disease Type 3	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Tremor, Inability to wal...	ORPHA:101077
Chronic Inflammatory Demyelinating Polyneuropathy	Segmental peripheral demyelination/remyelination, Decreased nerve conduction velocity, Unsteady g...	ORPHA:2932
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13	Decreased compound muscle action potential amplitude, Babinski sign, Difficulty walking, Frequent...	OMIM:619112
Roussy-Levy Hereditary Areflexic Dystasia	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:180800
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Decreased motor nerve conduction velocity, Respiratory insufficiency, Peripheral hypomyelination,...	OMIM:605253
Hereditary Motor And Sensory Neuropathy V	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Babinski sign, Abnormal ...	OMIM:600361
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:118210
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia...	ORPHA:98890
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Spinocerebellar Ataxia-Dysmorphism Syndrome	Epicanthus, Genu recurvatum, Short stature, Optic atrophy, Reduced bone mineral density, Slender ...	ORPHA:1185
Autosomal Recessive Spastic Paraplegia Type 71	Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv...	ORPHA:401840
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased motor nerve conduction velocity, Paralysis, Decreased number of large peripheral myelin...	OMIM:605285
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:614895
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2W	Abnormal foot morphology, Absent Achilles reflex, Slender long bone, Hammertoe, Steppage gait, Ga...	ORPHA:488333
Craniofacial Conodysplasia	Spinal cord compression	ORPHA:85168
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:607706
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:615411
Charcot-Marie-Tooth Disease Type 4A	Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers...	ORPHA:99948
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:607734
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Decreased nerve conduction veloci...	ORPHA:99939
X-Linked Charcot-Marie-Tooth Disease Type 6	Decreased nerve conduction velocity, Difficulty walking, Steppage gait, Hand tremor	ORPHA:352675
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Froment sign, Vocal cord paralysis, Segmental peripher...	OMIM:162500
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Three M Syndrome 1	Mandibular prognathia, Pes planus, Small for gestational age, Short stature, Joint hypermobility,...	OMIM:273750
X-Linked Charcot-Marie-Tooth Disease Type 4	Decreased nerve conduction velocity, Ataxia, Tremor, Gait disturbance	ORPHA:101078
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart	OMIM:241550
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Failure to thrive in infancy, Decreased nerve conduction velocity, Decreased number of large peri...	ORPHA:90103
Charcot-Marie-Tooth Disease, Type 4H	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609311
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, Gait ataxia, Loss of am...	OMIM:249900
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac...	OMIM:619279
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Cataract-Ataxia-Deafness Syndrome	Decreased nerve conduction velocity, Hypertonia, Ataxia, Tremor	ORPHA:1368
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:607432
Atrial Fibrillation, Familial, 13	Aortic valve stenosis, Left atrial enlargement	OMIM:615377
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu...	OMIM:614561
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Decreased motor nerve conduction velocity, Steppage gait, Fasciculations, Chronic axonal neuropathy	OMIM:606595
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased motor nerve conduction velocity, Difficulty walking, Decreased sensory nerve conduction...	OMIM:608323
Roussy-Lévy Syndrome	Decreased motor nerve conduction velocity, Postural tremor, Babinski sign, Unsteady gait, Limb at...	ORPHA:3115
Cerebrooculofacioskeletal Syndrome 4	Failure to thrive in infancy, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Blepharo...	OMIM:610758
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Limitation of joint mobility, Hip dislocation, Slender long bone, Gait disturbance, Hypoplastic p...	ORPHA:2840
Autosomal Recessive Spastic Paraplegia Type 21	Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturbance, Difficul...	ORPHA:101001
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Steppage gait, Onion bul...	OMIM:610100
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Neuropathy, Congenital Hypomyelinating, 2	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:618184
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Inability to walk, Abnormali...	ORPHA:90117
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Decreased motor nerve conduction velocity, Fasciculations, Difficulty walking	OMIM:615575
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:600882
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Decreased nerve conduction velocity, Unsteady gait, Impaired tand...	ORPHA:101097
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
X-Linked Charcot-Marie-Tooth Disease Type 1	Abnormal nerve conduction velocity, Ataxia, Tremor, Gait disturbance	ORPHA:101075
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Peripheral axonal neuropathy, Broad-based gait, Decreased nerve conduction velocity, Dyspnea, Poo...	ORPHA:435387
Charcot-Marie-Tooth Disease Type 1A	Decreased motor nerve conduction velocity, Acute demyelinating polyneuropathy, Gait disturbance, ...	ORPHA:101081
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Atrial Septal Defect 9	Secundum atrial septal defect, Bicuspid aortic valve	OMIM:614475
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Telecanthus, Camptodactyly of finger, Cachexia, Micrognathia, Limitation of joint mobility, Osteo...	ORPHA:2774
Squalene Synthase Deficiency	Epicanthus, Failure to thrive in infancy, Optic nerve hypoplasia, Micrognathia, Elbow flexion con...	OMIM:618156
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:302800
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:605588
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Abnormal sensory nerve conduction velocity, Tongue fasciculations, Fas...	ORPHA:276435
Epilepsy, Familial Adult Myoclonic, 1	Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,...	OMIM:601068
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ...	OMIM:615376
Leukodystrophy, Hypomyelinating, 2	Decreased motor nerve conduction velocity, Dystonia, Ataxia, Facial palsy, Rigidity, Head titubat...	OMIM:608804
Epilepsy, Familial Adult Myoclonic, 3	Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty...	OMIM:613608
Charcot-Marie-Tooth Disease, Type 4A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:214400
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Neonatal respiratory distress, Ataxia, Decreased nerve conduction velocity, Babinski sign, Dysmet...	OMIM:618356
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Pulmonic stenosis	OMIM:614224
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Reduce...	OMIM:619795
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia...	OMIM:607684
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:615490
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Epicanthus, Telecanthus, Hydrocephalus, Optic atrophy, Slender long bone, Malar flatt...	OMIM:618590
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ...	OMIM:615779
Triose Phosphate-Isomerase Deficiency	Decreased nerve conduction velocity, Diaphragmatic paralysis	ORPHA:868
Marshall-Smith Syndrome	Bowing of the long bones, Failure to thrive, Craniosynostosis, Optic atrophy, Reduced bone minera...	ORPHA:561
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s...	OMIM:600121
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2	Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ...	OMIM:605726
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myo...	ORPHA:71277
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Axonal degeneration/rege...	OMIM:218000
Folinic Acid-Responsive Seizures	Respiratory distress, Broad-based gait, Ataxia, Apnea, Spastic tetraparesis, Chorea, Delayed myel...	ORPHA:79097
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Malar flattening, Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb u...	OMIM:118651
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J	Decreased motor nerve conduction velocity, Difficulty walking	OMIM:620111
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8	Decreased motor nerve conduction velocity, Difficulty walking, Decreased amplitude of sensory act...	OMIM:618912
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr...	OMIM:601382
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph...	OMIM:601596
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Clonus, Babinski sign, Spastic paraplegia, Gait distur...	ORPHA:139578
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co...	ORPHA:206443
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Decreased nerve conduction velocity, Inability to walk, Optic atrophy, EEG abnormality, Dystonia,...	ORPHA:457205
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology	OMIM:607641
Aortic Valve Disease 3	Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve	OMIM:618496
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Gait disturbance, Peripheral demyelination	ORPHA:99944
Combined Oxidative Phosphorylation Deficiency 13	Decreased nerve conduction velocity, Choreoathetosis, Leukodystrophy, Dystonia	OMIM:614932
Megabladder, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa...	OMIM:618719
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, S...	OMIM:614436
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Decreased motor nerve conduction velocity, Steppage gait	OMIM:302801
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal nerve conduction velocity	ORPHA:99014
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Ataxia, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Dysmetria, Spasticity,...	OMIM:612674
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Upper motor neuron dysfunction	OMIM:612577
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D	Decreased motor nerve conduction velocity, Steppage gait	OMIM:607678
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Peripheral axonal neuropathy, Ataxia, Respiratory distress	OMIM:619099
Charcot-Marie-Tooth Disease, Type 4B3	Decreased nerve conduction velocity, Gait disturbance, Loss of ambulation, Myelin outfoldings, On...	OMIM:615284
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S...	OMIM:606777
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Decreased nerve conduction velocity, Paraparesis, Steppage gait	OMIM:302802
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination	OMIM:608236
Malan Overgrowth Syndrome	Episodic ataxia, Slender long bone, Downslanted palpebral fissures, Optic disc pallor	ORPHA:420179
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Truncal titubation, Babinski sign, Abnormal pyramidal ...	OMIM:610532
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Babinski sign, Limb tremor, Difficulty walking, Abnormal myelination, Spas...	ORPHA:401820
Charcot-Marie-Tooth Disease Type 4D	Decreased motor nerve conduction velocity, Postural tremor, Inability to walk, Unsteady gait, Dem...	ORPHA:99950
Monomelic Amyotrophy	Tremor, Degeneration of anterior horn cells, Fasciculations, Abnormality of peripheral nerve cond...	ORPHA:65684
Krabbe Disease	Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Hypertonia, Decerebrate rigi...	OMIM:245200
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:145900
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Difficulty walking, Paralysis	OMIM:608634
Spinocerebellar Ataxia, Autosomal Recessive 32	Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Abnormal nerve conduction v...	OMIM:619862
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Diaphragmatic paral...	OMIM:614399
Hallermann-Streiff Syndrome	Natal tooth, Small for gestational age, Sparse eyelashes, Spina bifida, Micrognathia, Sparse eyeb...	OMIM:234100
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Short stature, Craniosynostosis, Micrognathia, Slender long bone, Decreased calvarial ossificatio...	OMIM:618265
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment	OMIM:617018
Optic Atrophy 3, Autosomal Dominant	Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function	OMIM:165300
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:118220
Epilepsy, Familial Adult Myoclonic, 4	EEG with polyspike wave complexes, Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancemen...	OMIM:615127
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Clonus, Decreased nerve conduction velocity, Poor coordination, Abnormal pyramidal sign, Spastic ...	OMIM:238970
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Decreased compound muscle action potential amplitude, Babinski sign, Hand tremor, Steppage gait, ...	OMIM:618279
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Andersen Cardiodysrhythmic Periodic Paralysis	Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short...	OMIM:170390
Glossopharyngeal Neuralgia	Cranial nerve compression, Schwannoma, Vocal cord paralysis, Weight loss, Abnormal glossopharynge...	ORPHA:221098
Huntington Disease-Like 2	Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Dystonia	ORPHA:98934
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Dense metaphyseal bands, Osteopenia, Small for gestational age, Short stature, Slender long bones...	ORPHA:50811
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:607250
Spinocerebellar Ataxia Type 1	Postural tremor, Chorea, Optic atrophy, Slurred speech, Dysmetria, Bradykinesia, Progressive cere...	ORPHA:98755
Ataxia-Pancytopenia Syndrome	Ataxia, Decreased nerve conduction velocity, Babinski sign, Unsteady gait, Dysmetria, Ankle clonus	OMIM:159550
Lethal Congenital Contracture Syndrome Type 1	Short stature, Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender long bone...	ORPHA:1486
Charcot-Marie-Tooth Disease Type 4G	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory...	ORPHA:99953
Gracile Bone Dysplasia	Short stature, Hydrocephalus, Flared metaphysis, Decreased skull ossification, Slender long bone,...	OMIM:602361
Lymphoid Interstitial Pneumonia	Aortic valve stenosis, Cor pulmonale	OMIM:247610
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Spasticity	OMIM:611105
Pulmonary Blastoma	Cough, Dyspnea, Recurrent pneumonia, Weight loss	ORPHA:64741
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Small for gestational age, Decreased nerve conduction velocity, T...	OMIM:604320
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity, Tremor, Axonal loss, Steppage gait, Gait disturbance	OMIM:118300
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre...	OMIM:608673
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Ataxia, Tremor, Rigidity, Gait disturbance, Decreased ...	OMIM:603472
Three M Syndrome 3	Small for gestational age, Short stature, Growth delay, Slender long bone, Hip dysplasia, Decreas...	OMIM:614205
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Severe short stature, Wid...	OMIM:619598
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Lissencephaly, X-Linked, 1	Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria	OMIM:300067
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration	ORPHA:101029
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:118200
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Mandibular prognathia, Failure to thrive, Pes planus, Short stature, Proximal placeme...	OMIM:212066
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Lissencephaly 3	Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr...	OMIM:611603
Bilateral Polymicrogyria	Spastic tetraparesis, Micrognathia, Spastic hemiparesis, Abnormal pyramidal sign, Facial diplegia...	ORPHA:268940
Cardiomyopathy, Familial Hypertrophic, 1	Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Ataxia-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Ataxia	ORPHA:1188
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Decreased motor nerve conduction velocity, Incoordination, Ataxia, Babinski sign, Abnormal pyrami...	OMIM:616688
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Peripheral hypomyelination, Vocal cord paralysis, Distal sensory impairment	OMIM:616287
Horner Syndrome, Congenital	Congenital Horner syndrome, Paralysis	OMIM:143000
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Postnatal growth retardation, Metaphyseal widening, Triangular shaped distal phalan...	ORPHA:73230
Primary Lateral Sclerosis, Juvenile	Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu...	OMIM:606353
Stxbp1-Related Encephalopathy	Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Delayed myelination, Spa...	ORPHA:599373
Alazami Syndrome	Sparse eyebrow, Postnatal growth retardation, Abnormality of the orbital region, Slender long bon...	ORPHA:319671
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Spinocerebellar Ataxia 10	Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Dysm...	OMIM:603516
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Decreased compound muscle action potential amplitude, Steppage gait, Vestibular schwannoma	OMIM:613641
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Autosomal Dominant Spastic Paraplegia Type 17	Babinski sign, Postural tremor, Spastic gait, Abnormal motor nerve conduction velocity	ORPHA:100998
Developmental And Epileptic Encephalopathy 58	Inability to walk, Delayed myelination, Optic atrophy, Spastic diplegia, Hypsarrhythmia	OMIM:617830
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Spastic Paraplegia 17, Autosomal Dominant	Decreased motor nerve conduction velocity, Lower limb spasticity, Postural tremor, Babinski sign,...	OMIM:270685
Kenny-Caffey Syndrome, Type 1	Proportionate short stature, Carious teeth, Small hand, Short foot, Slender long bone, Birth leng...	OMIM:244460
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Combined Oxidative Phosphorylation Defect Type 13	Decreased nerve conduction velocity, Delayed myelination, Choreoathetosis, Lower limb hypertonia,...	ORPHA:319514
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant	Waddling gait, Compound muscle action potential amplitude facilitation, Decreased compound muscle...	OMIM:616040
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Gliosis, Dystonia	OMIM:300857
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Intrauterine growth retardation	ORPHA:1506
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12	Decreased motor nerve conduction velocity	OMIM:614751
Charcot-Marie-Tooth Disease Type 2B1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	ORPHA:98856
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ...	OMIM:601455
Spastic Ataxia, Charlevoix-Saguenay Type	Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Ataxia, De...	OMIM:270550
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ...	ORPHA:99947
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia	ORPHA:217012
Charcot-Marie-Tooth Disease, Type 4B2	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:604563
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypopl...	OMIM:108720
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Leukoencephalopathy With Dystonia And Motor Neuropathy	Decreased motor nerve conduction velocity, Torticollis, Head tremor, Dystonia, Intention tremor	OMIM:613724
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia	ORPHA:141152
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Decreased motor nerve conduction velocity, Axonal loss, Spasticity, Frequent falls, Motor axonal ...	OMIM:620068
Three M Syndrome 2	Delayed eruption of teeth, Severe short stature, Small for gestational age, Short stature, Dental...	OMIM:612921
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Failure to thrive, Small for gestational age, Short stature, Hypoplasia of the maxill...	OMIM:608154
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Severe short stature, Talipes, Severe generalized osteoporosis, Micrognathia, Hy...	OMIM:210730
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity, Sensory axonal neuropathy	ORPHA:309169
3M Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Thick eyebrow, Congenital hip dislocation, Sho...	ORPHA:2616
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Focal dystonia, C...	ORPHA:216873
Marshall-Smith Syndrome	Large sternal ossification centers, Synophrys, Distal widening of metacarpals, Coxa vara, Hyperto...	OMIM:602535
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology	ORPHA:247604
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve	ORPHA:228190
Spinocerebellar Ataxia 23	Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ...	OMIM:610245
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Atypical Rett Syndrome	Dystonia, Sudden episodic apnea, Involuntary movements, Episodic tachypnea, Impaired pain sensati...	ORPHA:3095
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Demyelinating sensory neuropathy, Optic nerve hypoplasia, De...	ORPHA:101085
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature...	OMIM:156230
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Porphyria, Acute Hepatic	Respiratory paralysis, Paresthesia, Paralysis	OMIM:612740
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con...	OMIM:271640
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure, Paralysis	ORPHA:132
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Ataxia, Tachypnea, Optic atrophy, Respiratory insufficiency, Respiratory fa...	OMIM:614299
Slc35A2-Cdg	Osteopenia, Failure to thrive in infancy, Camptodactyly of finger, Craniosynostosis, Coxa valga, ...	ORPHA:356961
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis	OMIM:178650
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Orofaciodigital Syndrome Viii	Syndactyly, Telecanthus, Short stature, Polydactyly, Short tibia	OMIM:300484
Stuve-Wiedemann Syndrome 1	Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, Short phalanx...	OMIM:601559
Charcot-Marie-Tooth Disease, Axonal, Type 2B2	Decreased motor nerve conduction velocity	OMIM:605589
Femoral-Facial Syndrome	Short femur, Short stature, Micrognathia, Abnormal fibula morphology, Coxa vara, Upslanted palpeb...	ORPHA:1988
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Microcephaly-Micromelia Syndrome	Craniosynostosis, Absent thumb, Absent radius, Micrognathia, Micromelia, Humeroradial synostosis,...	OMIM:251230
Neurodegeneration With Brain Iron Accumulation 2A	Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Spastic tetraplegia, A...	OMIM:256600
Achondroplasia	Brachydactyly, Radial bowing, Short femur, Rhizomelia, Limited hip extension, Bowing of the legs,...	OMIM:100800
Metachromatic Leukodystrophy	Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap...	OMIM:250100
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Peripheral axonal neuropathy, Peripheral dysmyelination	ORPHA:101082
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Involuntary movements, Respiratory insufficiency, Tongue fasciculations, Se...	ORPHA:238329
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Mesomelic short st...	OMIM:249700
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contracture...	OMIM:224690
Ossification Of The Posterior Longitudinal Ligament Of Spine	Spinal cord compression, Myelopathy	OMIM:602475
Spinocerebellar Ataxia Type 26	Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia...	ORPHA:101112
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo...	ORPHA:70589
Multiple Epiphyseal Dysplasia Type 1	Waddling gait, Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis...	ORPHA:93308
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Telecanthus, Short femur, Fractured radius, Small for gestational age, Decreased fibu...	OMIM:616897
Short Syndrome	Delayed eruption of teeth, Enlarged epiphyses, Telecanthus, Joint laxity, Small for gestational a...	OMIM:269880
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorabl...	ORPHA:240085
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Dyspnea, Chorea, Choreoathetosis, Hyperkinetic move...	ORPHA:98810
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal s...	ORPHA:240103
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Decreased nerve conduction velocity, Truncal obesity, Gait disturbance	ORPHA:2928
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased...	OMIM:162400
Distal Hereditary Motor Neuropathy Type 5	Unsteady gait, Abnormal motor nerve conduction velocity	ORPHA:139536
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Short stature, Aplasia/Hypoplasia of the patella,...	OMIM:613803
Meier-Gorlin Syndrome 4	Genu recurvatum, Short stature, Micrognathia, Hypoplasia of the maxilla, Patellar aplasia, Birth ...	OMIM:613804
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Spinocerebellar Ataxia 37	Tremor, Unsteady gait, Frequent falls, Ataxia	OMIM:615945
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Autosomal Recessive Spastic Paraplegia Type 70	Lower limb spasticity, Hand tremor, Progressive spastic paraplegia, Abnormal myelination	ORPHA:401835
Autosomal Recessive Spastic Paraplegia Type 69	Lower limb spasticity, Hand tremor, Spastic dysarthria, Abnormal myelination, Progressive spastic...	ORPHA:401830
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Eunuchoid habitus, Arachnodactyly, Joint hypermobility, Synophrys, Abnormality of the...	ORPHA:2463
Split Cord Malformation Type I	Diastomatomyelia	ORPHA:1671
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Lethal Congenital Contracture Syndrome 7	Facial diplegia, Paralysis	OMIM:616286
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, ...	ORPHA:94068
Marcus-Gunn Syndrome	Unilateral ptosis, Postnatal growth retardation, Abnormal fifth cranial nerve morphology	ORPHA:91412
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia, Clumsiness, Progr...	ORPHA:309256
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat...	OMIM:147891
Periventricular Nodular Heterotopia 8	Periventricular nodular heterotopia	OMIM:618185
Meier-Gorlin Syndrome 5	Short stature, Micrognathia, Hypoplasia of the maxilla, Irregular femoral epiphysis, Patellar apl...	OMIM:613805
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Fle...	ORPHA:666
Spinocerebellar Ataxia Type 38	Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia	ORPHA:423296
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Paralysis, Difficulty walking, Distal sensory impairment	OMIM:613710
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Brachydactyly, Failure to thrive, Recurrent fractures, Micrognathia, H...	OMIM:601812
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Normal pressure hydrocephalus, Kinetic tremor	OMIM:611808
Adult-Onset Distal Myopathy Due To Vcp Mutation	Reduced vital capacity, Parkinsonism, Decreased nerve conduction velocity, Tremor, Facial diplegi...	ORPHA:329478
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Micrognathia, Congenital contracture, Wrist flexion contracture, Elbow ankylos...	OMIM:208150
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign...	OMIM:607317
Intellectual Developmental Disorder, X-Linked 104	Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Spasticity	OMIM:300983
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy	OMIM:613287
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Optic atrophy, Hypertonia, Dystonia, Failure to thrive	ORPHA:26792
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Decreased b...	OMIM:300580
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, ...	OMIM:600920
Macular Degeneration, Age-Related, 3	Decreased nerve conduction velocity, Peripheral axonal neuropathy	OMIM:608895
Parkinson Disease 2, Autosomal Recessive Juvenile	Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Anterior encephalocele, Foot oligodactyly, Holoprosencephaly, Amelia	OMIM:601357
Pelizaeus-Merzbacher Disease	Writer's cramp, Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Congenital laryngea...	OMIM:312080
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Mandibular prognathia, Metaphyseal widening, Knee dislocation, Clinodactyly of the 5t...	OMIM:620083
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa...	OMIM:128230
Meier-Gorlin Syndrome 2	Short stature, Micrognathia, Patellar aplasia, Birth length less than 3rd percentile, Slender lon...	OMIM:613800
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Spinocerebellar Ataxia 38	Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Tick-Borne Encephalitis	Speech apraxia, Stiff neck, Incoordination, Facial palsy, Paralysis, Tremor, Abnormal glossophary...	ORPHA:297
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Hypoplastic cervical ve...	ORPHA:56304
Primary Dystonia, Dyt4 Type	Eunuchoid habitus, Respiratory distress, Torticollis, Generalized dystonia, Involuntary movements...	ORPHA:98805
Charcot-Marie-Tooth Disease, Axonal, Type 2Y	Decreased motor nerve conduction velocity	OMIM:616687
Myopathy And Diabetes Mellitus	Respiratory distress, Peripheral axonal neuropathy, Inability to walk, Babinski sign, Progressive...	ORPHA:2596
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th...	OMIM:250460
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula...	OMIM:607941
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve	OMIM:604381
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Clumsiness, Progressive gait a...	ORPHA:309263
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
Wild Type Abeta2M Amyloidosis	Decreased nerve conduction velocity, Tetraplegia, Axonal loss, Tetraparesis, Decreased amplitude ...	ORPHA:85446
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Ataxia, Facial palsy, D...	OMIM:211530
Tetanus	Respiratory distress, Tremor, Rigidity, Tachypnea, Opisthotonus, Hypertonia, Abnormal autonomic n...	ORPHA:3299
Williams-Beuren Syndrome (WBS)	Aortic valve stenosis	DECIPHER:3
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Respiratory insufficiency due...	ORPHA:600
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Friedreich Ataxia	Decreased motor nerve conduction velocity, Inability to walk, Chorea, Babinski sign, Optic atroph...	ORPHA:95
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Orofaciodigital Syndrome Type 10	Telecanthus, Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micro...	ORPHA:2756
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Encephalocele, Rhizomelia, Postaxial polydactyly, Sparse eyebrow,...	OMIM:616300
Periventricular Nodular Heterotopia 6	Periventricular nodular heterotopia	OMIM:615544
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Ataxia, Cachexia	ORPHA:1933
X-Linked Charcot-Marie-Tooth Disease Type 2	Decreased motor nerve conduction velocity, Optic disc pallor, Clasp-knife sign, Optic neuropathy,...	ORPHA:101076
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Fibular hypoplasia, Aplasia/Hyp...	OMIM:612447
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Cachexia, Babinski sign, Respiratory insufficiency, CN...	OMIM:618186
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Inability to walk, Weight loss, Opisthotonus, Tip-toe ga...	ORPHA:216866
Epiphyseal Dysplasia, Multiple, 1	Waddling gait, Epiphyseal dysplasia, Short metacarpal, Pes planus, Severe short stature, Joint st...	OMIM:132400
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Leukodystrophy, Dystonia, Oculomotor ap...	OMIM:612438
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Short stature, Micrognathia, Wide anterior fontanel, Fibular h...	OMIM:201170
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Chorea, Babins...	OMIM:604168
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Decreased nerve conduction velocity, Axonal degeneration, Waddling gait	OMIM:618138
Cerebellofaciodental Syndrome	Pes planus, Short stature, Tapered finger, Sparse eyebrow, Dental malocclusion, Shortening of all...	OMIM:616202
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve	OMIM:615599
Burning Mouth Syndrome	Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials	ORPHA:353253
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hallux valgus, Failure to thrive in infancy, Short stature, Slender long bone, Camptodactyly, Cli...	OMIM:613385
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Decreased motor nerve conduction velocity, Lower limb spasticity, Peripheral axonal neuropathy, C...	OMIM:256840
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali...	OMIM:164500
Diencephalic Syndrome	Cachexia, Hydrocephalus, Optic atrophy, Large hands, Decreased body weight	ORPHA:1672
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Tongue fasciculations, L...	OMIM:619851
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Delayed CNS myelination, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem g...	OMIM:300423
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:607831
Myasthenic Syndrome, Congenital, 16	Gait disturbance, Apnea, Periodic paralysis	OMIM:614198
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Inability to walk, Spastic paraplegia, Spastic tetraplegia, Spasticity	OMIM:617977
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban...	ORPHA:363710
Microcephaly With Cervical Spine Fusion Anomalies	Spinal cord compression	OMIM:251250
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
Eiken Syndrome	Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b...	ORPHA:79106
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Arnold-Chiari Malformation Type I	Abnormality of the musculature of the lower limbs, Stiff neck, Myelopathy, Cranial nerve compress...	ORPHA:268882
Juvenile Huntington Disease	Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata...	ORPHA:248111
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the...	ORPHA:251282
Amyotrophic Lateral Sclerosis 16, Juvenile	Amyotrophic lateral sclerosis	OMIM:614373
Peroxisome Biogenesis Disorder 8B	Lower limb spasticity, Failure to thrive, Ataxia, Clonus, Rigidity, Babinski sign, Optic atrophy,...	OMIM:614877
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Difficulty walking, Distal sensory impairment	OMIM:615048
Acute Peripheral Arterial Occlusion	Paresthesia, Impaired distal tactile sensation, Paralysis	ORPHA:90064
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy	OMIM:612437
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Hypoplastic ilia, H...	ORPHA:93333
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis	OMIM:611895
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Small for gestational age, Postnatal growth retardation, Inability to walk, Congenital knee dislo...	ORPHA:319332
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Clumsiness, Progressiv...	ORPHA:309271
Diastrophic Dysplasia	Hip contracture, Small for gestational age, Costal cartilage calcification, Flattened epiphysis, ...	OMIM:222600
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Dyspnea, Tachypnea, Abnormal pyramidal sign, Choreoathetosis, Gai...	ORPHA:765
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Epicanthus, Enlargement of the an...	OMIM:277440
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,...	OMIM:604317
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Epicanthus, Short femur, Sandal gap, Small for gestational age, Rhizomelia, Hypopl...	OMIM:607143
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis	ORPHA:140989
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Pulmonic stenosis	OMIM:264140
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Tremor, Dysmetria, Gait a...	OMIM:618387
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Telecanthus, Optic nerve hypoplasia, Preaxial polydactyly, Preaxial fo...	OMIM:603671
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Delayed CNS myelination, Ataxia, Head titubation, Babinski sign, Optic atrophy, Dysmetria, Leukod...	OMIM:618688
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism w...	OMIM:616710
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, At...	ORPHA:1187
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Lower limb spasticity, Involuntary movements, Decreased nerve conduction veloc...	ORPHA:565624
Pelizaeus-Merzbacher Disease, Classic Form	Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Abnormal pyramidal sign, Dyst...	ORPHA:280219
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Waddling gait, Tremor, Respiratory insufficiency due to m...	ORPHA:2590
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Hippocampal sclerosis, Myoclonus, Interictal epileptiform activity	OMIM:615400
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Optic disc pallor, Ataxia, Spastic tetraparesis, Babinski sign, Tachypnea, Respiratory failure, G...	OMIM:615838
Chronic Atrial And Intestinal Dysrhythmia	Bicuspid aortic valve, Left atrial enlargement, Pulmonic stenosis	OMIM:616201
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Hypertonia, Genu varum, Long toe, Absent eyebrow, Intention tr...	OMIM:264090
Perry Syndrome	Hypoventilation, Parkinsonism, Central hypoventilation, Akinesia, Tremor, Rigidity, Respiratory i...	OMIM:168605
Atelosteogenesis Type I	Telecanthus, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral h...	ORPHA:1190
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Spastic tetraparesis, Tremor, Hydrocephalus, Elbow flexion contracture, Optic a...	OMIM:619470
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk, Hypsarrhythmia	OMIM:619561
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Ataxia, Tremor, Obesity, Limb dystonia, Bilateral coxa valga, Intrauterine growth retardation	OMIM:620270
Muscular Hypertonia, Lethal	Respiratory distress, Hypertonia, Pneumonia	OMIM:254120
Infantile Krabbe Disease	Respiratory distress, Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Cach...	ORPHA:206436
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia	OMIM:618093
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Respiratory insufficiency, Abnormal au...	ORPHA:97229
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic valve calcification, Aortic valve stenosis	OMIM:114065
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Foot joint contracture, Micrognath...	ORPHA:444072
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:600081
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616437
Mitochondrial Complex I Deficiency, Nuclear Type 19	Rigidity, Inability to walk, Delayed myelination, Optic atrophy, Respiratory insufficiency, Athet...	OMIM:618241
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus, EEG with generalized epileptiform discharges	OMIM:616187
Infantile Neuroaxonal Dystrophy	Peripheral axonal neuropathy, Dystonia, Ataxia, Spastic tetraparesis, Cerebellar gliosis, Unstead...	ORPHA:35069
Leukodystrophy, Hypomyelinating, 11	Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity, Failure to thrive	OMIM:616494
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,...	ORPHA:35689
Congenital Myopathy 22B, Severe Fetal	Waddling gait, Hip contracture, Tapered toe, Shoulder flexion contracture, Talipes, Micrognathia,...	OMIM:620369
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Knee dislocation, Amelogenesis imperfecta, Microretrognathia...	OMIM:618363
Brachyolmia Type 1, Hobaek Type	Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short...	OMIM:271530
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Ax...	OMIM:619026
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
Huntington Disease-Like 1	Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia...	ORPHA:157941
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	ORPHA:99949
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micro...	OMIM:613848
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti...	ORPHA:442835
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Sialidosis Type 1	Ataxia, Decreased nerve conduction velocity, Tremor, Slurred speech, EEG abnormality, Gait distur...	ORPHA:812
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Cachexia, Weight loss, Gait ataxia, Failure to thrive	OMIM:612075
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:102
Faciocardiomelic Syndrome	Osteopenia, Ptosis, Telecanthus, Micrognathia, Large for gestational age, Dental malocclusion, Sl...	OMIM:612731
Chudley-Mccullough Syndrome	Gray matter heterotopia, Polymicrogyria	OMIM:604213
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Poor motor coordination, Parkinsonism, Apnea, Episodic tachypnea, Clumsiness, ...	ORPHA:79264
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Idiopathic Achalasia	Cough, Wheezing, Recurrent aspiration pneumonia, Weight loss	ORPHA:930
Supravalvular Aortic Stenosis	Pulmonic stenosis	OMIM:185500
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology	ORPHA:95434
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology	OMIM:611067
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Paraparesis, Osteolysis, Femo...	OMIM:602080
Omodysplasia 1	Micrognathia, Limited elbow flexion, Short tibia, Increased fibular diameter, Rhizomelia, Limited...	OMIM:258315
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Sensory axonal neu...	OMIM:607458
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Delayed epiphyseal ...	ORPHA:166016
Tuberculosis	Cough, Weight loss	ORPHA:3389
Mesomelic Dysplasia, Savarirayan Type	Short stature, Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, ...	OMIM:605274
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co...	OMIM:607876
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Orofaciodigital Syndrome Iv	Epicanthus, Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Hand polydactyly,...	OMIM:258860
Neurofibromatosis Type 1	Ataxia, Short stature, Recurrent fractures, Abnormal eyelid morphology, Joint stiffness, Hydrocep...	ORPHA:636
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Abnormal CNS myelination, Difficulty...	ORPHA:477673
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Broad-based gait, Neonatal respiratory distress, Ataxia, Crackles, Cough, A...	OMIM:610978
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Facial palsy, Tremor, Respiratory insufficiency due to muscle weakness, Degeneration of anterior ...	OMIM:159950
Hyperparathyroidism, Transient Neonatal	Osteopenia, Communicating hydrocephalus, Short femur, Metaphyseal spurs, Recurrent fractures, Fem...	OMIM:618188
Migraine, Familial Hemiplegic, 1	Tremor, Hemiplegia, Ataxia, Hemiparesis	OMIM:141500
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst...	ORPHA:397946
Glycosylphosphatidylinositol Biosynthesis Defect 15	Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Apraxia, Spast...	OMIM:617810
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, CNS hypomyelination, Le...	OMIM:607694
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Waddling gait, Facial palsy, Dyspnea, Decreased compound muscle action potential amplitude, Loss ...	OMIM:603511
Multifocal Motor Neuropathy	Motor conduction block, Fasciculations	ORPHA:641
Yuan-Harel-Lupski Syndrome	Broad-based gait, Decreased nerve conduction velocity, Unsteady gait, Gait ataxia, Failure to thr...	OMIM:616652
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Optic atrophy, Choreoathetosis, Growth delay, Dystonia, Clinodactyly of the 5th f...	OMIM:619422
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Impaired distal proprioception, Tremor, Dysmyelinating leukodystrophy, Unsteady g...	ORPHA:137898
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurr...	OMIM:264700
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Respiratory failure,...	ORPHA:280210
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Babinski sign, Optic atrophy, Vestibular areflexia, Dysmetria, Gait ataxia, Progressive cerebella...	ORPHA:504476
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Rabies	Vocal cord paresis, Cerebral palsy, Paresthesia	ORPHA:770
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity, Vocal cord paralysis, Tremor	ORPHA:397744
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Spinocerebellar Ataxia 1	Decreased motor nerve conduction velocity, Optic disc pallor, Chorea, Babinski sign, Optic atroph...	OMIM:164400
Optic Atrophy 11	Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, EEG with fo...	OMIM:617302
Isaacs Syndrome	EEG abnormality, Fasciculations, Weight loss	ORPHA:84142
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:241530
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sign, Action tremor	OMIM:620158
Ear-Patella-Short Stature Syndrome	Failure to thrive, Severe short stature, Camptodactyly of finger, Aplastic clavicle, Craniosynost...	ORPHA:2554
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Joubert Syndrome 7	Central apnea, Ataxia, Episodic tachypnea, Tachypnea, Oculomotor apraxia, Neonatal breathing dysr...	OMIM:611560
Pfeiffer-Palm-Teller Syndrome	Aortic valve stenosis	ORPHA:2871
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Abnormal pyramidal sign, Dysmetria, Motor axonal neuropathy, Abnormality of peripheral ne...	ORPHA:48431
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:98933
Juvenile Amyotrophic Lateral Sclerosis	Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, CNS hypomyelination, Upper limb s...	ORPHA:300605
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:602099
Huntington Disease-Like 2	Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor	OMIM:606438
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Large for gestational age, Flexio...	ORPHA:96334
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem...	ORPHA:454887
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis	OMIM:619141
Familial Cervical Artery Dissection	Paresthesia, Facial palsy, Paralysis	ORPHA:36382
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Spasticity	ORPHA:33445
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm...	ORPHA:227510
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Tetraplegia, Hand tr...	OMIM:604484
Cardiac Diverticulum	Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ...	ORPHA:1686
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormality of neuronal migration	OMIM:618709
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Hemiplegia/hemiparesis, Chorea, Optic atrophy, Choreoathetosis, Dystonia	ORPHA:289916
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi...	ORPHA:521406
Orofaciodigital Syndrome Ix	Telecanthus, Toe syndactyly, Short stature, Hand polydactyly, Camptodactyly, Short tibia	OMIM:258865
Autosomal Recessive Spastic Paraplegia Type 25	Paraparesis, Spastic paraplegia, Abnormality of peripheral nerve conduction	ORPHA:101005
Gaucher Disease Type 2	Respiratory distress, Cough, Dystonia, Spasticity, Abnormal pattern of respiration	ORPHA:77260
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Gliosis, Spas...	OMIM:213200
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst...	ORPHA:314632
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walking, Dystonia	ORPHA:330050
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Peripheral axonal neuropathy, Diaphragmatic paralysis, Paradoxical respirat...	OMIM:620011
Wrinkly Skin Syndrome	Osteopenia, Microretrognathia, Delayed eruption of teeth, Congenital hip dislocation, Epicanthus,...	OMIM:278250
Huntington Disease	Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br...	ORPHA:399
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:608030
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Abnormal autonomic nervous...	ORPHA:329284
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Telecanthus, Facial palsy, Osteopetrosis, Abnormal metaphysis morpholo...	ORPHA:1522
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Decreased nerve conduction velocity, Unsteady gait, Peripheral hypomyelinat...	OMIM:618733
8Q24.3 Microdeletion Syndrome	Branchial cyst, Congenital hip dislocation, Micromelia, Finger clinodactyly, Clinodactyly of the ...	ORPHA:508488
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Maternal Uniparental Disomy Of Chromosome 6	Slender long bone, Intrauterine growth retardation	ORPHA:96181
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag...	OMIM:609136
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Carious ...	OMIM:259710
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia	OMIM:619101
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Leukodystrophy, Dystonia, Loss of ambulation	OMIM:617916
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis	ORPHA:79159
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Steppage gait, Vocal...	OMIM:601152
Acalvaria	Abnormality of neuronal migration, Spina bifida	ORPHA:945
Epilepsy, Progressive Myoclonic, 6	Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, EEG with spike-wave complexes	OMIM:614018
Cednik Syndrome	Ataxia, Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:66631
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Micr...	OMIM:224400
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Gray matter heterotopia, Type II lissencephaly, Dysgyria	ORPHA:352682
Acromicric Dysplasia	Short metacarpal, Severe short stature, Cone-shaped epiphysis, Short foot, Short long bone, Long ...	OMIM:102370
Stiff Skin Syndrome	Bicuspid aortic valve	OMIM:184900
Behr Syndrome	Ataxia, Tremor, Babinski sign, Optic atrophy, Unsteady gait, Dysmetria, Gait disturbance, Progres...	OMIM:210000
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Weight loss, Cough, Pleura...	ORPHA:50251
Intellectual Developmental Disorder, Autosomal Recessive 48	Mandibular prognathia, Waddling gait, Tremor, Inability to walk, Small hand, Narrow palpebral fis...	OMIM:616269
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Craniosynostosis, Micrognathia, Upper limb undergrowth, Obesity, Upslanted palpebral ...	ORPHA:369837
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact...	OMIM:210710
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Ataxia, Truncal titubation, Axonal degeneration, Gait ataxia, Abnormal sensory ner...	ORPHA:88628
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Hsd10 Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait disturbance, Myoclonus, Spastic pa...	ORPHA:391417
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, En...	OMIM:307800
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Short stature, Osteomalacia, Irregular, rac...	ORPHA:289157
Spinocerebellar Ataxia With Epilepsy	Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:254881
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Exaggerated startle response, Clonus, Myoclonus, Spasticity, Failure to thrive	OMIM:618201
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity	OMIM:615924
Igg4-Related Ophthalmic Disease	Sinusitis, Palpebral edema, Abnormal fifth cranial nerve morphology, Abnormal morphology of bony ...	ORPHA:449563
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Double outlet right ventricle, Hypoplastic left heart, Bicuspid aortic valve	OMIM:618845
Oromandibular Dystonia	Respiratory distress, Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic...	ORPHA:93958
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Failure to thrive, Myoclonus, Dystonia	OMIM:619651
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Optic atrophy, Choreoathetosis, Dystonia, Failure to thrive	ORPHA:79312
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os...	OMIM:177170
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens...	OMIM:600363
Congenital Disorder Of Glycosylation, Type Ie	Short palm, Ataxia, Ankle flexion contracture, Micrognathia, Tremor, Optic atrophy, Small hand, U...	OMIM:608799
Congenital Arthrogryposis With Anterior Horn Cell Disease	Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology	OMIM:611890
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased c...	OMIM:620076
Myoclonic-Atonic Epilepsy	Tremor, Delayed CNS myelination, Ataxia, Eyelid myoclonus	OMIM:616421
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Arachnodactyly, Oste...	ORPHA:536467
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Bicuspid aortic valve	ORPHA:397951
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Cardiac Valvular Dysplasia, X-Linked	Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of...	OMIM:314400
Citrullinemia Type I	Torticollis, Ataxia, Tachypnea, Slurred speech, Ankle clonus, Spasticity	ORPHA:247525
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology	OMIM:607225
Acromicric Dysplasia	Decreased nerve conduction velocity	ORPHA:969
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Hypsarrhythmia	OMIM:616341
Weill-Marchesani Syndrome 3	Aortic valve stenosis, Pulmonic stenosis	OMIM:614819
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Peripheral axonal neuropathy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Optic atrophy, D...	OMIM:616505
4H Leukodystrophy	Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormalit...	ORPHA:289494
Perry Syndrome	Central hypoventilation, Parkinsonism, Tremor, Weight loss, Abnormality of extrapyramidal motor f...	ORPHA:178509
Oculopharyngodistal Myopathy	Respiratory insufficiency due to muscle weakness, Paraplegia, Weight loss, Restrictive ventilator...	ORPHA:98897
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi...	OMIM:618587
Intellectual Developmental Disorder, Autosomal Dominant 53	Epicanthus, Short femur, Involuntary movements, Unsteady gait, Genu valgum, Growth delay, Downsla...	OMIM:617798
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Benign Schwannoma	Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Abnorm...	ORPHA:252164
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Gm1 Gangliosidosis	Mandibular prognathia, Tremor, Decerebrate rigidity, Ataxia, Short stature, Abnormal diaphysis mo...	ORPHA:354
Variegate Porphyria	Paralysis	OMIM:176200
Lethal Congenital Contracture Syndrome 5	Decreased nerve conduction velocity, EEG with burst suppression, Small for gestational age, Respi...	OMIM:615368
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Short stature, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow e...	OMIM:614078
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, At...	ORPHA:79138
Mitochondrial Membrane Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Respiratory insuffic...	ORPHA:289560
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Posterior Column Ataxia With Retinitis Pigmentosa	Broad-based gait, Ataxia, Optic atrophy, Decreased sensory nerve conduction velocity, Peripheral ...	OMIM:609033
Filippi Syndrome	Dystonia, 2-4 toe syndactyly, Postnatal growth retardation, Optic atrophy, Cutaneous syndactyly, ...	OMIM:272440
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse	ORPHA:2868
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Talipes, Micromelia, Abnormal thumb morphology, Abnormal femur...	ORPHA:1842
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Decreased distal sensory nerve action ...	ORPHA:466768
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia	OMIM:128235
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO	OMIM:616414
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, CNS hypomyelination, Gait atax...	OMIM:614381
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Short stature, Coxa valga, Advanced ossification of carpal bones, Knee dislocation,...	OMIM:620269
Achondroplasia	Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Wide a...	ORPHA:15
Charcot-Marie-Tooth Disease Type 4B2	Reduced vital capacity, Decreased distal sensory nerve action potential, Tremor, Inability to wal...	ORPHA:99956
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, B...	ORPHA:52368
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased numbe...	OMIM:201300
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Weight loss, Strid...	ORPHA:142
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Central apnea, Resting tremor, Peripheral axonal degeneration, Incoordination, Ataxia, Dystonia, ...	OMIM:615157
Catel-Manzke Syndrome	Joint laxity, Short humerus, Short metacarpal, Short femur, Micrognathia, Postnatal growth retard...	OMIM:616145
Martsolf Syndrome 1	Clonus, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Finger joint hypermobility,...	OMIM:212720
Cerebrotendinous Xanthomatosis	Axonal degeneration, Abnormal pyramidal sign, Abnormal motor evoked potentials, Gliosis, Ataxia, ...	ORPHA:909
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Epicanthus, Joint hypermobility, Micrognathia, Postnatal growth retardation, Tremor, Synophrys, P...	ORPHA:480907
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Neonatal asphyxia, Vocal cord paralysis, Bronchiectasis, Congenital laryngeal stridor	ORPHA:2375
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac...	ORPHA:264675
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Tremor, Synophrys, Hypoplastic vertebral bodies, Hypertonia, Long toe, Ataxia, Short ...	ORPHA:3455
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met...	OMIM:184260
Charcot-Marie-Tooth Disease Type 1E	Decreased nerve conduction velocity, Inability to walk, Steppage gait, Gait disturbance, Gait imb...	ORPHA:90658
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cachexia, Decreased numb...	ORPHA:298
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Aqueductal ...	ORPHA:3035
Hypochondroplasia	Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f...	OMIM:146000
Laryngeal Neuroendocrine Tumor	Exertional dyspnea, Neuroendocrine neoplasm, Weight loss	ORPHA:100083
Infantile Neuronal Ceroid Lipofuscinosis	Interictal EEG abnormality, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fi...	ORPHA:79263
Seckel Syndrome 10	Microretrognathia, Severe short stature, Metaphyseal widening, Cone-shaped epiphysis, Slender lon...	OMIM:617253
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,...	OMIM:206920
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn...	ORPHA:254875
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Decreased motor nerve conduction velocity, Optic atrophy, Abnormal pyramidal sign, Spastic tetrap...	OMIM:615419
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Knee flexion contracture, Spina bifida occulta, Wrist flexion contracture,...	OMIM:193700
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Optic atrophy, Respiratory insufficiency, Choreoa...	ORPHA:702
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,...	ORPHA:101
Rhizomelic Syndrome	Pulmonic stenosis	OMIM:268250
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia, Small for gestational age	OMIM:278780
Band Heterotopia	Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria	OMIM:600348
Neurotrophic Keratopathy	Abnormal fifth cranial nerve morphology	ORPHA:137596
Hereditary Methemoglobinemia	Small for gestational age, Delayed myelination, Spastic tetraplegia, Athetosis, Hypertonia, Limb ...	ORPHA:621
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Ataxia, Short stature, Tremor, Small hand, Truncal ataxia, Dysmetria, Gait atax...	OMIM:610185
Autosomal Recessive Spastic Paraplegia Type 55	Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Poor fine motor coordinati...	ORPHA:320375
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Peripheral axonal neuropath...	OMIM:606002
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Neonatal asphyxia, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia	ORPHA:306669
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Chorea, Optic atroph...	ORPHA:401768
Japanese Encephalitis	Decreased motor nerve conduction velocity, Respiratory distress, Tremor, Opisthotonus, Choreoathe...	ORPHA:79139
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus	OMIM:615362
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Short statu...	ORPHA:1782
Spinal Muscular Atrophy, X-Linked 2	Facial palsy, Respiratory insufficiency due to muscle weakness, Decreased compound muscle action ...	OMIM:301830
Inherited Creutzfeldt-Jakob Disease	Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py...	ORPHA:282166
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn...	OMIM:227270
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Apnea, Tremor, Babinski sign, Spastic paraplegia,...	OMIM:300055
Spinocerebellar Ataxia Type 27	Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr...	ORPHA:98764
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Short stature, Bowi...	OMIM:300554
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm...	ORPHA:485421
Toxin-Mediated Infectious Botulism	Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmat...	ORPHA:230800
Distal Deletion 10Q	Clonus, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Clinodactyly of the 5th fin...	ORPHA:96148
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi...	OMIM:101800
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Fatal Familial Insomnia	Ataxia, Apnea, Weight loss, Abnormal autonomic nervous system physiology, Myoclonus	OMIM:600072
Nephronophthisis 16	Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmonic stenosis	OMIM:615382
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H...	OMIM:272750
Joubert Syndrome	Aganglionic megacolon, Ataxia, Apnea, Episodic tachypnea, Tremor, Gait disturbance, Oculomotor ap...	ORPHA:475
Hurler-Scheie Syndrome	Abnormal nerve conduction velocity, Rhinitis, Abnormal pyramidal sign	ORPHA:93476
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction...	OMIM:606070
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral...	ORPHA:249
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Epicanthus, Arachnodactyly, Optic nerve hypoplasia, Sagittal craniosynostosis, Absent thumb, Hypo...	ORPHA:500150
Aortic Valve Disease 2	Patent foramen ovale, Aortic valve stenosis, Bicuspid aortic valve, Pulmonic stenosis	OMIM:614823
Spinocerebellar Ataxia Type 3	Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma...	ORPHA:98757
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Bicuspid aortic valve	OMIM:617744
Retinitis Pigmentosa 89	Bicuspid aortic valve	OMIM:618955
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,...	OMIM:617145
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B...	ORPHA:240094
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Waddling gait, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphys...	OMIM:608728
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Micrognathia...	ORPHA:536471
Osteosarcoma	Abnormal femoral metaphysis morphology, Osteolysis, Weight loss, Abnormal tibial metaphysis morph...	ORPHA:668
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Hip contracture, Epicanthus, Failure to thrive in infancy, Cachexia, Tapered finger, ...	OMIM:616801
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Decreased motor nerve conduction velocity, Babinski sign, Decreased sensory nerve conduction velo...	OMIM:616192
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia	OMIM:617836
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Weight los...	ORPHA:79127
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis	OMIM:615426
Hemimegalencephaly	Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology	ORPHA:99802
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Serotonin Syndrome	Clonus, Tremor, Rigidity, Tachypnea, Hypertonia, Myoclonus, Abnormality of the autonomic nervous ...	ORPHA:43116
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis	OMIM:614808
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Unsteady gait, Flexion contracture, Choreoathetosis, Growth delay, Hy...	ORPHA:17
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Exaggerated startle response, Short femur, Short stature, Tapered finger, Epibleph...	OMIM:618367
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Sandal gap, Cachexia, Micrognathia, Tapered finger, Intrauterine growth re...	ORPHA:1438
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Postaxial polydactyly, Micrognathia, Wide anterior fontanel, Preaxial polydactyly, H...	OMIM:617925
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105550
Idiopathic Bronchiectasis	Cachexia, Crackles, Productive cough, Dyspnea, Wheezing, Bronchiectasis, Abnormal respiratory sys...	ORPHA:60033
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Abnormal CNS myelination, Optic atrophy, Ataxia	OMIM:610651
Friedreich Ataxia	Ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Decreased sensory nerve conductio...	OMIM:229300
Kniest Dysplasia	Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Tracheomalacia, Delayed epiphyseal ossifi...	OMIM:156550
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Dystonia, Ataxia, Tremor, Decreased number of large peripheral my...	OMIM:208920
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Small for gestational age, Short stature, Micrognathia, Postnatal grow...	ORPHA:73272
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Bardet-Biedl Syndrome 16	Respiratory distress, Obesity	OMIM:615993
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Hirschsprung Disease	Aganglionic megacolon, Failure to thrive in infancy, Short stature, Weight loss, Adducted thumb	ORPHA:388
Christianson Syndrome	Mandibular prognathia, Dystonia, Cachexia, Gait ataxia, Joint hyperflexibility, Truncal ataxia, A...	ORPHA:85278
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Congenital Aortic Valve Stenosis	Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocardial fibroelastosis, Left ...	ORPHA:3093
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Nipah Virus Disease	Tremor, Myoclonus, Respiratory distress, Cough	ORPHA:99825
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, Short tibia, Finger sy...	ORPHA:2751
Aicardi-Goutieres Syndrome 6	Tremor, Rigidity, Leukodystrophy, Dystonia, Loss of ambulation	OMIM:615010
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Talipes equinovarus, Short tibia, Lethargy, Limb hypertonia	OMIM:620306
Cln5 Disease	Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot...	ORPHA:228360
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, EEG abnormality, Ataxia, Gait ataxia	OMIM:617831
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Metachromatic Leukodystrophy	Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Tip-toe gait, Gait disturban...	ORPHA:512
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Micrognathia, Congenital fibrosis of extraocular muscles, Joint laxity, Normal pressure hydroceph...	ORPHA:300570
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Gliosis, Shuffling g...	ORPHA:411602
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Wiedemann-Steiner Syndrome	Micrognathia, Synophrys, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, Jo...	OMIM:605130
Hypocalcemic Vitamin D-Resistant Rickets	Short stature, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Genu valgum,...	ORPHA:93160
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Respiratory failure, Ataxia	OMIM:618637
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Hydrocephalus, Flar...	OMIM:187600
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Pes planus, Short stature, Down-slo...	ORPHA:96264
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous syst...	OMIM:300894
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Malaria	Respiratory distress, Gait imbalance	ORPHA:673
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Short stature, Postaxial hand polydactyly, Hydrocephalus, Obesity, Cone-shaped epiphyses of the p...	OMIM:615630
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Pulmonic stenosis	OMIM:619433
48,Xxyy Syndrome	Delayed eruption of teeth, Broad jaw, Epicanthus, Pes planus, Ataxia, Abnormal dental enamel morp...	ORPHA:10
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Delayed tarsal ossification, ...	OMIM:600002
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Delayed CNS myelination, Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to ...	OMIM:618877
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Bilateral coxa ...	ORPHA:439822
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia, Limb ataxia, Gait ...	OMIM:614575
Parkinson Disease, Late-Onset	Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal ...	OMIM:168600
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Respiratory failure, Tachypnea, Cough	OMIM:263000
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Pes planus, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ...	OMIM:609616
Stt3B-Cdg	Respiratory distress, Failure to thrive, Optic atrophy	ORPHA:370924
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Abnormality of coordination, Ataxia, Parkinsonism, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of the odontoi...	ORPHA:239
Episodic Ataxia Type 1	Respiratory distress, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia, Tip-toe gait	ORPHA:37612
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho...	ORPHA:247234
Desbuquois Dysplasia 2	Metaphyseal widening, Synophrys, Knee dislocation, Short phalanx of finger, Genu varum, Joint lax...	OMIM:615777
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight l...	ORPHA:94080
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L...	ORPHA:1423
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Disproportionate short stature, Flattened epiphysis, Tibi...	ORPHA:93356
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Interictal EEG abnormality, Delayed myelination, EEG with focal epileptifor...	ORPHA:544503
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o...	OMIM:616007
Amyotrophic Lateral Sclerosis 1	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:105400
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus	OMIM:619028
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Epicanthus, Severe short stature, Osteomalacia, Coxa valga, Avascular necrosis of the...	ORPHA:1901
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia,...	ORPHA:1788
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Failure to thrive, Optic atrophy	OMIM:615597
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Acrocephalopolydactyly	Epicanthus, Genu recurvatum, Short long bone, Limb undergrowth, Brachydactyly	ORPHA:221054
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Short long bone, Stillbirth, Camptodactyly, Neonatal death, Intrauterin...	OMIM:619751
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Difficulty walking, Oculomotor ap...	ORPHA:529665
Spinocerebellar Ataxia, Autosomal Recessive 21	Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia...	OMIM:616719
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit...	ORPHA:99750
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T...	OMIM:137440
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Decreased compound muscle action potential amplitude	OMIM:619519
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Facial palsy, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Parapa...	OMIM:607483
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Severe short stature, Micromelia, Micrognathia...	OMIM:224410
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Arachnodactyly, Cachexia, Joint stiffness	ORPHA:1144
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Postnatal growth retardation, Metaphyseal widening...	OMIM:608940
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Parkinsonism, Abnormal autonomic nervous system physiology, Weight loss	OMIM:605543
Hypokalemic Periodic Paralysis	Periodic hypokalemic paresis, Respiratory paralysis, Paralysis	ORPHA:681
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contracture, Hypop...	OMIM:611717
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Broad long bones, Severe short stature, Micromelia, Bowing of the legs, Hypoplasti...	ORPHA:1865
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Small for gestational age, Peripheral demyelination	OMIM:616733
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Absent radius, Ulnar bowing, Split...	OMIM:171480
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Ataxia, Short stature, Metaphyseal sclerosis, Postnatal gro...	OMIM:612199
Joubert Syndrome 3	Central apnea, Ataxia, Episodic tachypnea, Oculomotor apraxia, Neonatal breathing dysregulation	OMIM:608629
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ...	ORPHA:93296
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inability to walk, Babin...	OMIM:128100
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Pop...	OMIM:119800
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased nerve conduction velocity, Broad-based gait, Decreased number of peripheral myelinated ...	ORPHA:477817
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Ataxia, Cachexia, Weight loss	OMIM:613662
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz)	OMIM:616366
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Short stature, Abnormal dental enamel morpholog...	ORPHA:1133
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Focal EEG discharges with ...	ORPHA:3077
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology	OMIM:215470
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Failure to thrive	OMIM:300934
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Short stature, Bowi...	OMIM:300009
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte...	ORPHA:1164
Perching Syndrome	Respiratory distress	OMIM:617055
Intellectual Developmental Disorder, X-Linked 106	Bicuspid aortic valve	OMIM:300997
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Pneumothorax, Hypertonia, Hyperkinetic movements, Dystonia,...	OMIM:619738
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Delayed CNS myelination, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradyki...	OMIM:619725
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Short stature, Recurrent fract...	OMIM:614856
Renpenning Syndrome	Mandibular prognathia, Epicanthus, Severe short stature, Cachexia, Joint stiffness, Abnormal thum...	ORPHA:3242
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Failure to thrive	ORPHA:91130
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Amyotrophic lateral sclerosis	OMIM:617892
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology	ORPHA:275872
High Altitude Pulmonary Edema	Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough	ORPHA:330012
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Abnormality...	ORPHA:56305
Joubert Syndrome 23	Tachypnea, Apnea	OMIM:616490
Intellectual Developmental Disorder, X-Linked 12	Joint laxity, Increased body mass index, Small for gestational age, Short stature, Tremor, Trunca...	OMIM:300957
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bradykinesia,...	OMIM:261640
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Delayed CNS myelination, Ataxia, Tremor, Inability to walk, Hypertonia, Failure to thrive	OMIM:619556
Triosephosphate Isomerase Deficiency	Respiratory distress, Optic disc pallor, Tremor, Respiratory insufficiency due to muscle weakness...	OMIM:615512
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired pain sensation, Tremor, Impaired temperature sensation, Impaired distal vibration sensat...	OMIM:619574
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Neonatal respiratory distress, Optic atrophy	OMIM:615042
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Tremor, Chorea, Joint laxity, Short stature, ...	OMIM:601808
Joubert Syndrome With Oculorenal Defect	Tachypnea, Aganglionic megacolon, Apnea, Ataxia	ORPHA:2318
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Ataxia, Tremor, Gait ataxia, Upslanted palpebral fissure, Hypertonia,...	OMIM:619092
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Ataxia, Respiratory failure, Interictal epileptiform activity, Loss of ambu...	OMIM:620166
Congenital Heart Defects, Multiple Types, 7	Tetralogy of Fallot, Absence of the pulmonary valve, Pulmonic stenosis	OMIM:618780
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Small for gestational age, Micromelia, Short stature, Wide distal femoral ...	OMIM:613320
Spondyloepimetaphyseal Dysplasia, Missouri Type	Waddling gait, Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa v...	OMIM:602111
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Peroxisome Biogenesis Disorder 4B	Decreased nerve conduction velocity, Gait disturbance, Optic atrophy, Ataxia	OMIM:614863
X-Linked Intellectual Disability, Cabezas Type	Epicanthus, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Cachexia...	ORPHA:85293
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ...	ORPHA:1330
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Abnormal motor neuron morphology	ORPHA:52430
Alexander Disease Type I	Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Palatal tremor, Failure to thrive	ORPHA:363717
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Thymic Carcinoma	Cough, Dyspnea, Diaphragmatic paralysis, Weight loss	ORPHA:99868
Joubert Syndrome 9	Oculomotor apraxia, Apnea, Episodic tachypnea	OMIM:612285
Poliomyelitis	Respiratory failure requiring assisted ventilation, Abnormal motor nerve conduction velocity, Par...	ORPHA:2912
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:613954
Lopes-Maciel-Rodan Syndrome	Tremor, Unsteady gait, Small hand, Abnormal pyramidal sign, Short foot, Ankle clonus, Bradykinesi...	OMIM:617435
Trisomy X	Epicanthus, Tremor, Upslanted palpebral fissure, Joint hyperflexibility, Hip dysplasia, Clinodact...	ORPHA:3375
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Dyspnea, Abnormality on pulmonary function testing, Abnormal ...	ORPHA:133
Erythrokeratodermia Variabilis	Short stature, Tapered finger, Patchy palmoplantar hyperkeratosis, Weight loss, Brachydactyly	ORPHA:317
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology	OMIM:263570
Isolated Atp Synthase Deficiency	Respiratory distress, Ataxia, Spastic paraplegia, Optic atrophy, Tetraplegia, Dystonia	ORPHA:254913
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab...	ORPHA:3472
Developmental And Epileptic Encephalopathy 4	Delayed CNS myelination, Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraple...	OMIM:612164
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide...	OMIM:613091
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Microlissencephaly, Lissenceph...	OMIM:616212
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyria	ORPHA:300573
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo...	ORPHA:93346
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal peripheral nerve morphology by anatomical site, Steppage gait, Abnormal peripheral myeli...	ORPHA:168563
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare...	ORPHA:43
Periventricular Nodular Heterotopia 1	Bicuspid aortic valve	OMIM:300049
Biotinidase Deficiency	Tachypnea, Optic atrophy, Apnea, Ataxia	OMIM:253260
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the...	OMIM:113000
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Wei...	ORPHA:324964
Hypermanganesemia With Dystonia 2	Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g...	OMIM:617013
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea, Ataxia	ORPHA:79242
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Rett Syndrome	Dystonia, Apnea, Intermittent hyperventilation, Cachexia, Gait apraxia, Gait ataxia, EEG abnormal...	OMIM:312750
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons	OMIM:253310
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu...	ORPHA:420492
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki...	OMIM:614831
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Laron Syndrome	Limb undergrowth, Short long bone, Severe short stature, Delayed menarche	OMIM:262500
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Abnormal bone ossification, Short palm, ...	ORPHA:175
Cardiac Valvular Dysplasia 2	Dysplastic aortic valve, Bicuspid aortic valve, Pulmonic stenosis, Subvalvular aortic stenosis	OMIM:620067
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Seckel Syndrome 1	Abnormal finger flexion crease, Micrognathia, Clinodactyly of the 5th finger, Dislocated radial h...	OMIM:210600
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Inability to walk, Babinski sign, Optic atrophy, Spast...	OMIM:615663
Alternating Hemiplegia Of Childhood	Respiratory distress, Ataxia, Apnea, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyra...	ORPHA:2131
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variatio...	OMIM:215140
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Spastic ga...	OMIM:616795
Joubert Syndrome With Renal Defect	Encephalocele, Aganglionic megacolon, Ataxia, Highly arched eyebrow, Tremor, Hydrocephalus, Hand ...	ORPHA:220497
Osteopathia Striata With Cranial Sclerosis	Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Clinodactyly of the 5th finger, S...	OMIM:300373
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babin...	OMIM:614298
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis...	OMIM:617710
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Choreoathetosis, EEG abnormality, Dystonia	OMIM:612126
Acrodysostosis	Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu...	ORPHA:950
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val...	ORPHA:75566
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Palmoplantar keratoderma, Clubbing of toes, Weight loss	ORPHA:2198
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Delayed CNS myelination, Involuntary movements, Chorea, Delayed myelination...	OMIM:615273
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Severe short stature, Abno...	ORPHA:93316
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Tremor, Apneic episodes precipitated by illness, fatigue, stress, Chor...	OMIM:312170
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric...	OMIM:300770
Digital Extensor Muscle Aplasia-Polyneuropathy	Abnormal nerve conduction velocity	ORPHA:2926
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Waddling gait, Dyspnea, Difficulty walking, Cough	ORPHA:86812
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,...	OMIM:223800
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Subvalvular aortic stenosis	ORPHA:1338
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Mandibular prognathia, Pes planus, Joint laxity, Sandal gap, Short stature, Tremor, Small hand, G...	OMIM:300354
Leukoencephalopathy With Ataxia	Action tremor, Limb ataxia, Optic neuropathy, Gait ataxia	OMIM:615651
Snakebite Envenomation	Epistaxis, Paralysis, Pseudobulbar paralysis, Respiratory failure, Respiratory paralysis	ORPHA:449285
Neu-Laxova Syndrome	Osteopenia, Abnormal nasolacrimal system morphology, Osteomalacia, Micromelia, Micrognathia, Abno...	ORPHA:2671
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia	ORPHA:139485
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Incoordination, Ataxia, Involuntary movement...	ORPHA:209905
Developmental And Epileptic Encephalopathy 42	Ataxia, Tremor, Athetosis, EEG abnormality, Hypertonia	OMIM:617106
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, Failure to thrive, Ataxia, Facial palsy, Dysmetria, Hy...	ORPHA:456312
Lessel-Kreienkamp Syndrome	Atrial septal defect, Patent foramen ovale, Bicuspid aortic valve, Pulmonic stenosis	OMIM:619149
Myopathy With Extrapyramidal Signs	Joint laxity, Epicanthus, Peripheral axonal neuropathy, Ataxia, Clonus, Tremor, Chorea, Optic atr...	OMIM:615673
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Speech apraxia, Respiratory distress, Hypoventilation, Apnea, Delayed myelination, Recurrent pneu...	ORPHA:314655
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos...	ORPHA:90652
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Dyspnea, Abnormal respiratory sys...	ORPHA:803
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia	OMIM:245590
Combined Oxidative Phosphorylation Deficiency 54	Microretrognathia, Optic disc pallor, Epicanthus, Tremor, Obesity, Hemiparesis, Hypertonia, Intra...	OMIM:619737
Chiari Malformation Type Ii	Gray matter heterotopia, Syringomyelia, Cervical myelopathy, Spina bifida	OMIM:207950
Succinic Acidemia	Respiratory distress	OMIM:600335
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Pes planus, Short femur, Short stature, Talipes, Micrognathia, Synophr...	OMIM:300990
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Overweight, Tremor, Cranial hyperostosis, Hip dysplasia, Hyperkinetic movements, G...	ORPHA:457240
Joubert Syndrome With Ocular Defect	Encephalocele, Aganglionic megacolon, Ataxia, Highly arched eyebrow, Tremor, Hydrocephalus, Hand ...	ORPHA:220493
Fanconi Anemia	Micrognathia, Abnormal eyelid morphology, Abnormal femur morphology, Reduced bone mineral density...	ORPHA:84
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Scheie Syndrome	Abnormal nerve conduction velocity, Rhinitis, Cerebral palsy, Spastic paraparesis	ORPHA:93474
Lissencephaly 5	Gray matter heterotopia, Subcortical band heterotopia, Type II lissencephaly	OMIM:615191
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve	OMIM:619318
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Glutathionuria	Tremor, Asthma, Dysdiadochokinesis, Action tremor	OMIM:231950
Hereditary Sensory And Autonomic Neuropathy Type 1	Inability to walk, Steppage gait, Gait imbalance, Cough, Abnormality of the autonomic nervous sys...	ORPHA:36386
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Obesit...	OMIM:250420
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Peripheral axonal neuropathy, Substantia nigra gliosis, F...	ORPHA:276244
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Motor neuron atrophy, Spinocerebellar tract degeneration, Abnormal neuron morphology	ORPHA:412066
Gillessen-Kaesbach-Nishimura Syndrome	Epicanthus, Telecanthus, Ulnar deviation of the hand, Micrognathia, Wide anterior fontanel, Metap...	OMIM:263210
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven...	ORPHA:2257
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Pes planus, Overlapping toe, Short stature, Highly arched eyebrow, Carious teeth, Tremor, Downsla...	ORPHA:457365
Foodborne Botulism	Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly...	ORPHA:228371
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Coxa vara, Hypertonia, Wrist flexion contracture, Increased bone minera...	ORPHA:800
Generalized Epilepsy With Febrile Seizures-Plus	Pes planus, Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Limited k...	ORPHA:36387
Myasthenic Syndrome, Congenital, 25, Presynaptic	Decreased compound muscle action potential amplitude	OMIM:618323
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Waddling gait, Short stature, Osteomalacia, Bowing of the legs, Reduced bone mineral density, Gro...	ORPHA:157215
Pneumocystosis	Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins...	ORPHA:723
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:613435
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Aqueductal stenosis, Absen...	OMIM:154400
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Broad long bones, Short stature, Abnormal metatarsal morphology, Curly eyelashes, Multiple rows o...	ORPHA:163654
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Optic atrophy, Re...	OMIM:220110
Oculopharyngodistal Myopathy 1	Respiratory distress, Ataxia, Facial palsy, Hypercapnia, Tremor, Reduced forced vital capacity, R...	OMIM:164310
Tarp Syndrome	Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypoplasia of the radius, Optic atrophy,...	OMIM:311900
Moebius Syndrome	Respiratory distress, Poor coordination, Clumsiness, Facial diplegia, Dysdiadochokinesis, Gait di...	OMIM:157900
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Failure to thrive, Respiratory insufficiency due to muscle weakness	OMIM:613561
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Inability to...	ORPHA:596
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Arachnodactyly, Short stature, Cachexia, Micrognathia, Small hand, Elbow flexion...	ORPHA:371364
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Chediak-Higashi Syndrome	Spontaneous, recurrent epistaxis, Ataxia, Decreased nerve conduction velocity, Tremor, Gait distu...	OMIM:214500
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ...	ORPHA:2256
Seckel Syndrome 8	Spinal cord compression	OMIM:615807
Joubert Syndrome 30	Tachypnea, Apnea	OMIM:617622
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Fi...	OMIM:164900
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Abnormal anterior horn cell morphology, Respiratory insufficiency, Degenera...	ORPHA:1145
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Shox-Related Short Stature	Short stature, Micrognathia, Obesity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth...	ORPHA:314795
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,...	OMIM:613854
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Failure to thrive	OMIM:616974
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Ina...	OMIM:617988
Avian Influenza	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:454836
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Small for gestational age, EEG with multifocal slow activity, Hypertonia, Myoclonus, Abnormal mye...	ORPHA:289266
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Apnea, Segmental peripheral demyelination/remyelination, Dyspnea, Chorea, Episodic respir...	ORPHA:255210
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Pes planus, Down-sloping shoulders,...	ORPHA:96263
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Abnormal autonomic ner...	OMIM:616840
Wrinkly Skin Syndrome	Osteopenia, Delayed eruption of teeth, Epicanthus, Congenital hip dislocation, Pes planus, Short ...	ORPHA:2834
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness, Fasciculations	ORPHA:1143
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Short stature, Bowing of the legs	OMIM:146350
Sneddon Syndrome	Bicuspid aortic valve	OMIM:182410
Pheochromocytoma/Paraganglioma Syndrome 2	Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ...	OMIM:601650
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Sparse eyebrow, Hypoplasia of the odontoid proces...	OMIM:252500
Acute Myelomonocytic Leukemia	Dyspnea, Weight loss	ORPHA:517
Propionic Acidemia	Tachypnea, Dystonia, Apnea, Limb hypertonia	OMIM:606054
Acromelic Frontonasal Dysplasia	Encephalocele, Telecanthus, Meningocele, Patellar hypoplasia, Talipes equinovarus, Preaxial foot ...	ORPHA:1827
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Small for gestational...	OMIM:616229
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys...	ORPHA:70594
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Hypertonia, Short palm, Large i...	ORPHA:2636
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect, Mitral stenosis, Tetralog...	ORPHA:2847
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Hip d...	ORPHA:85170
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelinat...	OMIM:618527
Isolated Succinate-Coq Reductase Deficiency	Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Lower limb hypertonia, Spastic parapare...	ORPHA:3208
Caribbean Parkinsonism	Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ...	ORPHA:97355
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Postnatal growth retardation, ...	ORPHA:93324
Cockayne Syndrome B	Mandibular prognathia, Abnormal peripheral myelination, Tremor, Ivory epiphyses of the phalanges ...	OMIM:133540
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Highly arched eyebrow, Micrognathia, Postnatal growth retardation, Wide a...	OMIM:619135
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bowing of the legs, Rickets, Growth delay, Tooth abscess	ORPHA:89937
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology	OMIM:221770
Cockayne Syndrome	Optic disc pallor, Peripheral axonal neuropathy, Ataxia, Cerebral dysmyelination, Action tremor, ...	ORPHA:191
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Dysplastic pulmonary valve	OMIM:300958
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia	ORPHA:52503
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Dispr...	ORPHA:2634
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Failure to thrive	OMIM:237310
Methionine Malabsorption Syndrome	Tachypnea	OMIM:250900
Tonne-Kalscheuer Syndrome	Pes planus, Broad-based gait, Short stature, Micrognathia, Tremor, Growth delay, Malar flattening...	OMIM:300978
Acute Interstitial Pneumonia	Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure...	ORPHA:79126
Cardiomyopathy, Dilated, 2H	Tachypnea, Cardiorespiratory arrest	OMIM:620203
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, Aortic valve stenosis,...	ORPHA:210122
Xylt1-Cdg	Joint laxity, Pes planus, Short stature, Coxa valga, Synophrys, Flared metaphysis, Growth delay, ...	ORPHA:370930
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Abnormal autonomic nervous system physiology, Paralysis	ORPHA:83601
Attrv30M Amyloidosis	Abnormal autonomic nervous system physiology, Weight loss	ORPHA:85447
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic...	ORPHA:198
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Abnormal pattern of respiration, Gait disturbance	ORPHA:29822
Congenital Muscular Dystrophy Due To Lmna Mutation	Gait disturbance, Respiratory insufficiency, Cachexia	ORPHA:157973
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Micro...	OMIM:151210
Congenital Myopathy 15	Waddling gait, Vocal cord paralysis, Reduced forced vital capacity	OMIM:620161
Infantile Systemic Hyalinosis	Osteopenia, Severe short stature, Osteomalacia, Camptodactyly of finger, Micromelia, Recurrent fr...	ORPHA:2176
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Tremo...	ORPHA:667
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Aplasia/hypoplasia of the e...	ORPHA:485
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria	ORPHA:2512
Hereditary Motor And Sensory Neuropathy, Type Iic	Decreased distal sensory nerve action potential, Distal sensory impairment, Stridor, Respiratory ...	OMIM:606071
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Poems Syndrome	Sclerosis of hand bone, Papilledema, Sclerosis of foot bone, Metaphyseal sclerosis, Weight loss, ...	ORPHA:2905
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, S...	ORPHA:289176
Osteootohepatoenteric Syndrome	Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Hydrocephalus, Weight l...	OMIM:619377
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Short stature, Cachexia, Postaxial hand polydactyly, Hypertonia	ORPHA:1389
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Failure to thrive in infancy, Rhizomelia, Broad femoral neck, Micrognathia, Short sta...	OMIM:611209
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Cerebral palsy, Respiratory insufficiency, Hypertonia, Gait dist...	ORPHA:682
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Pachygyria	ORPHA:370980
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Paraseptal emphysema, Neonatal respiratory distress, Nonspecific interstiti...	OMIM:610921
Seckel Syndrome	Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Micrognathia, Cachexia, Short st...	ORPHA:808
Classic Hodgkin Lymphoma	Cough, Ataxia, Respiratory insufficiency, Weight loss	ORPHA:391
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol...	ORPHA:284169
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Facial palsy, Aganglionic megacolo...	OMIM:607323
Aortic Aneurysm, Familial Thoracic 12	Bicuspid aortic valve	OMIM:619825
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Coxa val...	OMIM:618150
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Rhyns Syndrome	Osteopenia, Ptosis, Radial bowing, Short stature, Osteoporosis, Short long bone, Short femoral ne...	OMIM:602152
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Synovitis, Weight l...	ORPHA:77297
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Short stature, Recurrent fractures, Postnatal growth retardation, ...	OMIM:616294
Cockayne Syndrome A	Mandibular prognathia, Abnormal peripheral myelination, Tremor, Ivory epiphyses of the phalanges ...	OMIM:216400
Machado-Joseph Disease Type 1	Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum...	ORPHA:276238
Machado-Joseph Disease Type 2	Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum...	ORPHA:276241
Mcdonough Syndrome	Mandibular prognathia, Short stature, Cachexia, Micrognathia, Synophrys, Dental malocclusion, Sho...	ORPHA:2471
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Failure to thrive, Ataxia, Paraplegia	ORPHA:927
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Tachypnea	OMIM:620085
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Short stature, Large tarsal bones, Micrognathia, Flexion contracture, Flare...	OMIM:215150
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Short ribs, Limb under...	OMIM:618961
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Tremor, Synophrys, Small hand, Short foot, Growth delay, Long eyelash...	ORPHA:238750
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Respiratory failur...	ORPHA:363400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Decreased compound muscle action potential amplitude, Bronchiectasis, Clonus	OMIM:620080
Combined Oxidative Phosphorylation Deficiency 32	Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dystonia, Spasticity	OMIM:617664
Hydrolethalus Syndrome 1	Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha...	OMIM:236680
Developmental And Epileptic Encephalopathy 46	Tremor, Failure to thrive, Hypsarrhythmia, Limb hypertonia	OMIM:617162
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Waddling gait, Facial palsy...	ORPHA:98915
Cardiocranial Syndrome, Pfeiffer Type	Torticollis, Episodic tachypnea	ORPHA:2872
3Mc Syndrome	Ptosis, Telecanthus, Craniosynostosis, Highly arched eyebrow, Postnatal growth retardation, Hip d...	ORPHA:293843
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Epicanthus, Telecanthus, Short stature, Micrognathia, Postnatal growth ...	OMIM:225410
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Fibrochondrogenesis 2	Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Sh...	OMIM:614524
3Mc Syndrome 1	Conjunctival telangiectasia, Synophrys, Coronal craniosynostosis, Clinodactyly of the 5th finger,...	OMIM:257920
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Familial Bicuspid Aortic Valve	Bicuspid aortic valve, Aortic valve calcification, Abnormal left ventricular outflow tract morpho...	ORPHA:402075
Radio-Tartaglia Syndrome	Pes planus, Epicanthus, Ataxia, Highly arched eyebrow, Micrognathia, Tapered finger, Long eyebrow...	OMIM:619312
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem...	OMIM:304120
Short Syndrome	Telecanthus, Severe short stature, Abnormal dental enamel morphology, Abnormal zygomatic bone mor...	ORPHA:3163
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Fibrochondrogenesis 1	Hypoplastic scapulae, Broad long bones, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla,...	ORPHA:245
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Weight loss, Periodic paralysis	OMIM:613239
Fanconi Renotubular Syndrome 3	Growth delay, Rickets, Short stature, Bowing of the legs	OMIM:615605
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ...	ORPHA:2879
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Epicanthus, Pes planus, Short stature, Proximal placement of thumb, Microgn...	ORPHA:251071
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Epicanthus, Sandal gap, Broad hallux, Micromelia, Short stature, Postnatal growth ret...	OMIM:614800
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Gliosis, Limb dystonia, Basal ganglia gliosis, Inspiratory stridor, Irregul...	OMIM:604377
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Weight loss, Hypoxemia, Restrictive ven...	ORPHA:2902
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Chorea, Reduced bone mineral density, Shoulder dislocation, Axonal lo...	ORPHA:404454
Joubert Syndrome 1	Central apnea, Optic disc pallor, Hemifacial spasm, Ataxia, Episodic tachypnea, Optic disc colobo...	OMIM:213300
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Tetraplegia, Opisthotonus, Hypertonia, Pulmonary arterial hypertension, Fai...	OMIM:619272
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Absent oss...	OMIM:166210
Loeys-Dietz Syndrome 1	Atrial septal defect, Bicuspid pulmonary valve, Bicuspid aortic valve, Mitral valve prolapse	OMIM:609192
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of...	OMIM:200610
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Waddling gait, Severe short stature, Micro...	OMIM:156400
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,...	ORPHA:276621
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Simplified gyral pattern, Periventricular heterotopia	OMIM:616171
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl...	ORPHA:988
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Metaphyseal chondrodysplasia, Babinski sign, Spastic paraplegia, Reduced bone mineral den...	ORPHA:83629
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Inability to walk, Optic atrophy, Gait ataxia	OMIM:619383
Ethylene Glycol Poisoning	Ataxia, Facial palsy, Tachypnea, Slurred speech, Episodic respiratory distress, Myoclonus, Abnorm...	ORPHA:31826
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G...	OMIM:300106
Wilson Disease	Dystonia, Poor motor coordination, Decreased nerve conduction velocity, Rigidity, Tremor, Hand tr...	OMIM:277900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Pachygyria, Abnormality of neuronal migration	OMIM:608840
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
Presynaptic Congenital Myasthenic Syndromes	EEG with polyspike wave complexes, Waddling gait, Sudden episodic apnea, Ataxia, Intermittent epi...	ORPHA:98914
Congenital Myasthenic Syndrome	EEG with polyspike wave complexes, Waddling gait, Sudden episodic apnea, Ataxia, Intermittent epi...	ORPHA:590
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity	ORPHA:1170
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Positive Romberg s...	OMIM:105210
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Severe short stature, Bowing of the legs, Delayed epiphyseal ossification, Metaphys...	ORPHA:93352
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Rhabdoid Tumor	Hemiplegia, Cerebral palsy, Respiratory insufficiency, Weight loss	ORPHA:69077
Insulin-Like Growth Factor I Deficiency	Osteopenia, Short stature, Micrognathia, Postnatal growth retardation, Decreased body weight, Cli...	OMIM:608747
Wolfram Syndrome 1	Ataxia, Tremor, Optic atrophy, Limited mobility of proximal interphalangeal joint, Growth delay, ...	OMIM:222300
Mucolipidosis Type Ii	Hip contracture, Epicanthus, Short stature, Craniosynostosis, Limited wrist movement, Postnatal g...	ORPHA:576
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve	OMIM:617450
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia, Abnormal myelination	ORPHA:85179
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine...	ORPHA:240071
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Obesity, Postaxial polydactyly, Brachydactyly	OMIM:615633
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Ataxia, Tremor, Recurrent pneumonia, Opisthotonus, Choreoathetosis, Hyperki...	OMIM:616271
Mercury Poisoning	Respiratory distress, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis, Dystonia	ORPHA:330021
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Subependymal Nodular Heterotopia	Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal migration	ORPHA:101030
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Joubert Syndrome 2	Central apnea, Ataxia, Episodic tachypnea, Optic disc coloboma, Oculomotor apraxia, Neonatal brea...	OMIM:608091
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gliosis, Myoclonus, Gait disturbance, Dysto...	OMIM:168601
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology	ORPHA:93941
Singleton-Merten Syndrome 2	Aortic valve calcification, Aortic valve stenosis	OMIM:616298
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Pes planus, Epicanthus, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Micr...	ORPHA:476126
Multifocal Atrial Tachycardia	Dyspnea, Tachypnea	ORPHA:3282
Pyruvate Carboxylase Deficiency	Ataxia, Tremor, Delayed myelination, Tachypnea, Abnormal pyramidal sign, CNS hypomyelination, Tip...	ORPHA:3008
Acro-Renal-Ocular Syndrome	Triphalangeal thumb, Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Vertebral f...	ORPHA:959
Trisomy 18	Microretrognathia, Epicanthus, Short stature, Camptodactyly of finger, Cachexia, Spina bifida, Ab...	ORPHA:3380
Chédiak-Higashi Syndrome	Ataxia, Parkinsonism, Epistaxis, Decreased nerve conduction velocity, Tremor, Inability to walk, ...	ORPHA:167
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity	ORPHA:542310
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Ataxia, Highly arched eyebrow, Tremor, Postaxial hand polydactyly, Optic...	ORPHA:1454
Den Hoed-De Boer-Voisin Syndrome	Tremor, Decreased body weight, Amelogenesis imperfecta, Ataxia, Overweight, 2-3 toe syndactyly, O...	OMIM:619229
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str...	ORPHA:93357
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Weight loss, Hypoxem...	ORPHA:90060
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Failure to thrive, Toe syndactyly, Congenital hip dislocation, Cachexia, Growt...	ORPHA:217346
Tay-Sachs Disease	Exaggerated startle response, Incoordination, Dystonia, Tremor, Laryngeal dystonia, Inability to ...	ORPHA:845
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Neuroblastoma, Susceptibility To, 1	Ataxia, Horner syndrome, Weight loss, Myoclonus, Failure to thrive, Ganglioneuroma	OMIM:256700
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Short stature, Sm...	ORPHA:140
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Hypoplasia of the radius, Patel...	OMIM:617604
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:612069
Short-Rib Thoracic Dysplasia 12	Natal tooth, Epicanthus, Hypoplastic scapulae, Bowing of the legs, Short toe, Hydrocephalus, Anen...	OMIM:269860
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Impaired vibratory sensation, Speech apraxia, Clonus, Poor coordination, Abnormal pyramidal sign,...	ORPHA:415
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclonus, Dystonia, Spasticity	ORPHA:500144
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Tachypnea	OMIM:616501
Cerebrooculonasal Syndrome	Encephalocele, Epicanthus, Sparse eyelashes, Optic nerve hypoplasia, Craniosynostosis, Postaxial ...	OMIM:605627
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Episodic tachypnea	ORPHA:163961
D-Bifunctional Protein Deficiency	Decreased nerve conduction velocity, Failure to thrive, Gliosis, Cerebral dysmyelination	OMIM:261515
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Anomalous pulmonary venous return, Abnormal aortic valve morphology, Atria...	ORPHA:1120
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra...	OMIM:613426
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Telecanthus, Micrognathia, Adactyly, Split hand, Aplasia/Hypopl...	ORPHA:989
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu...	ORPHA:2414
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo...	OMIM:620294
Beta-Ketothiolase Deficiency	Ataxia, Tachypnea, Extrapyramidal dyskinesia, Cough, Spasticity	ORPHA:134
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Optic atrophy, Respiratory failure, Failure to thrive	ORPHA:2707
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Abnormality of the temporomandibular joint, Mild p...	ORPHA:85408
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Periventricular heterotopia	OMIM:618273
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Short metatarsal, Narrow foot, Tibial bowing, Tarsometatarsal synostosi...	OMIM:600383
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Sp...	OMIM:618060
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Immunodeficiency 27A	Salmonella osteomyelitis, Hypoplasia of the femoral head, Weight loss	OMIM:209950
Microlissencephaly-Micromelia Syndrome	Respiratory distress, EEG abnormality, Failure to thrive, Hypertonia	ORPHA:50810
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Optic atrophy, S...	OMIM:614947
Schuurs-Hoeijmakers Syndrome	Patent foramen ovale, Abnormal cardiac septum morphology, Bicuspid aortic valve	OMIM:615009
Fanconi Anemia, Complementation Group I	Short stature, Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Fused...	OMIM:609053
Chronic Hiccup	Weight loss	ORPHA:396
Lissencephaly Syndrome, Norman-Roberts Type	4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly	ORPHA:89844
Proximal 16P11.2 Microduplication Syndrome	Arachnodactyly, Sparse eyelashes, Short stature, Sparse eyebrow, Tremor, Failure to thrive, Decre...	ORPHA:370079
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, EEG with burst suppression, Failure to thrive, Optic atrophy	ORPHA:329178
Alexander Disease	Osteopenia, Ataxia, Facial palsy, Clonus, Aqueductal stenosis, Tremor, Hydrocephalus, Chorea, Abn...	ORPHA:58
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of th...	OMIM:218600
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:619133
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:205100
Leprosy	Absent eyebrow, Autoamputation of digits, Abnormality of the seventh cranial nerve, Loss of eyela...	ORPHA:548
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Rickets, Growth delay, Failure to thrive	ORPHA:2088
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon...	ORPHA:217563
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Failure to thrive	ORPHA:261304
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Gliosis, Falls, Dystonia	ORPHA:683
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Lower limb spasticity, Ataxia, Tremor, Optic atrophy, Gait d...	ORPHA:90321
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis	OMIM:619132
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ...	ORPHA:3312
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:600274
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete...	OMIM:208530
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz...	OMIM:618019
Neurocutaneous Melanocytosis	Syringomyelia, Abnormality of neuronal migration	ORPHA:2481
Spinocerebellar Ataxia, Autosomal Recessive 30	Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation	OMIM:619405
Inhalational Botulism	Dyspnea, Paralysis	ORPHA:254504
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Impaired distal vibration sensation, Spastic paraplegia, Tetraplegia, Pseu...	OMIM:616586
Silver-Russell Syndrome	Sandal gap, Failure to thrive in infancy, Cachexia, Micrognathia, Lower limb asymmetry, Short sta...	ORPHA:813
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology	OMIM:243000
Brachytelephalangic Chondrodysplasia Punctata	Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,...	ORPHA:79345
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Pulmonary arterial hypertension, Tachypnea	OMIM:614857
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Severe short stature, Bowed humerus, Short tubular bones of the hand, Tibi...	OMIM:184253
Biotinidase Deficiency	Respiratory distress, Ataxia, Apnea, Optic neuropathy, Optic atrophy, Spastic paraparesis, Hyperv...	ORPHA:79241
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Leber Congenital Amaurosis	Abnormality of neuronal migration	ORPHA:65
Hengel-Maroofian-Schols Syndrome	Bicuspid aortic valve	OMIM:619641
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Keratoderma Hereditarium Mutilans	Abnormal spinal cord morphology	ORPHA:494
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, Hypoplastic i...	ORPHA:93315
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial...	OMIM:265120
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever...	ORPHA:85167
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Apnea, Tachypnea, Abnormal optic disc morphology, Oculomotor apraxia, Recurrent aspiration pneumo...	ORPHA:397715
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Limited elbow flexion...	OMIM:164745
9Q31.1Q31.3 Microdeletion Syndrome	Dilated cardiomyopathy, Bicuspid aortic valve	ORPHA:401923
Fryns-Smeets-Thiry Syndrome	Arachnodactyly, Short stature, Cachexia, Micrognathia, Patellar aplasia, Hip dislocation, Joint h...	ORPHA:2058
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Epicanthus, Short stature, Postaxial ...	OMIM:614091
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Abcd Syndrome	Neonatal death, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal agan...	OMIM:600501
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Glioblastoma	Paralysis	ORPHA:360
Grange Syndrome	Coronary artery stenosis, Bicuspid aortic valve	OMIM:602531
Laryngeal Abductor Paralysis	Stridor, Vocal cord paralysis	OMIM:150260
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Ataxia, Osteolysis, Weight loss, Xanthelasma, Abno...	ORPHA:35687
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Episodic tachypnea	OMIM:615160
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Stenosis of the medullary cavity of the long bones, Short stature, Persistence of pr...	ORPHA:93325
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Microretrognathia, Epicanthus, Contracture of the proximal interphalangeal...	OMIM:300998
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology	ORPHA:500159
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Ataxia, EEG with abnormally slow frequencies, Tremor, Delayed myelination, Obes...	ORPHA:98794
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic...	ORPHA:79102
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga...	OMIM:613280
Gabriele-De Vries Syndrome	Hallux valgus, Waddling gait, Telecanthus, Sandal gap, Micrognathia, Sparse eyebrow, Long fingers...	OMIM:617557
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ataxia, Osteoporosis, Rickets, Myoclonus, Failure to thrive, Ptosis	OMIM:560000
Porphyria, Acute Intermittent	Respiratory paralysis, Paresthesia, Paralysis	OMIM:176000
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Neonatal respiratory distress, Ataxia, Apnea, Hypopnea, Hypertonia, Myoclon...	OMIM:618426
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Aicardi-Goutieres Syndrome 9	Spastic tetraparesis, Optic atrophy, Osteoporosis, Spastic tetraplegia, Weight loss, Spastic dipl...	OMIM:619487
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
3-Hydroxy-3-Methylglutaric Aciduria	Apnea, Ataxia, Spastic hemiparesis, Tachypnea, Myoclonus, Spasticity	ORPHA:20
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Ataxia, Cachexia, Hydrocephalus, Optic atrophy, Spasticity	ORPHA:220295
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Epicanthus, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing r...	OMIM:200980
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia,...	ORPHA:1652
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Periodic paralysis	OMIM:188580
Kinsship Syndrome	Osteopenia, Mandibular prognathia, Pes planus, Short stature, Spastic tetraparesis, Coxa valga, M...	OMIM:619297
12Q14 Microdeletion Syndrome	Short stature, Micrognathia, Tremor, Osteopoikilosis, Synophrys, Clinodactyly of the 5th finger, ...	ORPHA:94063
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia, Syringomyelia	ORPHA:531151
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join...	OMIM:268310
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Exaggerated startle response, Broad-based gait, Ataxia, Dystonia	ORPHA:438216
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,...	ORPHA:29072
Flynn-Aird Syndrome	EEG abnormality, Ataxia, Cachexia	ORPHA:2047
Lethal Congenital Contracture Syndrome 10	Torticollis, Stiff neck, Micrognathia, Femoral bowing, Short long bone, Talipes equinovarus, Over...	OMIM:617022
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Decreased motor nerve conduction velocity	OMIM:613640
Holocarboxylase Synthetase Deficiency	Hypertonia, Tachypnea, Hyperventilation	OMIM:253270
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve	OMIM:619721
Acromesomelic Dysplasia 1	Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad...	OMIM:602875
Myotonic Dystrophy 1	Respiratory distress, Facial diplegia	OMIM:160900
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Severe short stature,...	OMIM:231070
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Tachypnea	OMIM:245050
Intellectual Developmental Disorder, Autosomal Dominant 48	Ventricular septal defect, Bicuspid aortic valve	OMIM:617751
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav...	ORPHA:2769
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Microretrognathia, Ataxia, Postnatal growth retardation, Tremor, Synophrys, Talipes c...	OMIM:300966
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Epicanthus, Ataxia, Short stature, Highly arched eyebrow, Micr...	ORPHA:2754
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Short stature, Craniosynos...	OMIM:252600
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Abnormal cranial nerve morphology	ORPHA:990
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Facial palsy, Micrognathia, Absent radius, Short ...	OMIM:214800
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Pes planus, Cachexia, Micrognathia, Joint stiffness, Abnormality of the lower limb, Flexion contr...	ORPHA:1979
Alg12-Cdg	Epicanthus, Sandal gap, Proximal placement of thumb, Micrognathia, Long fingers, Abnormal bone os...	ORPHA:79324
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure	ORPHA:542323
Lymphoid Interstitial Pneumonia	Crackles, Dyspnea, Wheezing, Bronchiectasis, Weight loss, Hypoxemia, Restrictive ventilatory defe...	ORPHA:79128
Riddle Syndrome	Ataxia, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Weight loss, Clumsiness, Restrictive v...	ORPHA:420741
Marbach-Schaaf Neurodevelopmental Syndrome	Speech apraxia, Epicanthus, Torticollis, Hemidystonia, Tapered finger, Tremor, Obesity, Upslanted...	OMIM:619680
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Joint hypermobility, Joint stiffness, Postnatal growth retardation, Tracheobron...	OMIM:619184
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn...	OMIM:146500
Diamond-Blackfan Anemia 11	Bicuspid aortic valve	OMIM:614900
Choreoacanthocytosis	Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decreased amplitude of...	ORPHA:2388
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Papilledema, Broad-based gait, Cachexia, Paralysis, Hydrocephalus, Spastic paraple...	ORPHA:2072
Aortic Aneurysm, Familial Thoracic 4	Bicuspid aortic valve	OMIM:132900
Wild Type Attr Amyloidosis	Weight loss, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction, Pleural...	ORPHA:330001
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Waddling gait, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, CNS hypomyeli...	OMIM:615356
Mandibulofacial Dysostosis With Alopecia	Bicuspid aortic valve	OMIM:616367
Mulibrey Nanism	Cachexia	ORPHA:2576
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn...	OMIM:271665
Mu-Heavy Chain Disease	Osteoporosis, Osteolysis, Weight loss	ORPHA:100024
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Growth dela...	OMIM:617247
Opsismodysplasia	Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti...	OMIM:258480
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos...	OMIM:212093
Young-Onset Parkinson Disease	Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system physiology, Gait imbalance, Dys...	ORPHA:2828
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Telecanthus, Preaxial hand polydactyly, Hand oligodactyly, Retrognat...	OMIM:165590
Chromosome 6Q24-Q25 Deletion Syndrome	Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular dilatation, Atrial septal de...	OMIM:612863
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Partial...	OMIM:619343
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short lon...	OMIM:615503
Rheumatoid Arthritis	Swan neck-like deformities of the fingers, Joint stiffness, Weight loss, Rheumatoid arthritis, In...	OMIM:180300
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Clonus, Micrognathia, Short stature, Osteomalacia, Abnormal dental enamel ...	ORPHA:534
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Apnea, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hyperton...	OMIM:618056
Periventricular Nodular Heterotopia 7	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:617201
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow...	OMIM:200600
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Tetrasomy 12P	Delayed eruption of teeth, Telecanthus, Short stature, Cachexia, Sparse eyebrow, Upslanted palpeb...	ORPHA:884
Spinal Arteriovenous Metameric Syndrome	Abnormal spinal cord morphology, Spinal arteriovenous malformation	ORPHA:53721
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Joint stiffness, Osteoporosis, Weight loss, Arthri...	ORPHA:465508
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Vertebral fusion, Ataxi...	OMIM:139210
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Short stature, Recurrent fractures, Optic atrophy, Rickets	OMIM:268315
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Delayed CNS myelination, Inability to walk, Recurrent pneumonia, Optic atrophy	OMIM:617303
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia	OMIM:606763
Charge Syndrome	Aqueductal stenosis, Abnormal tibia morphology, Eyelid coloboma, Abnormality of bone mineral dens...	ORPHA:138
Coffin-Siris Syndrome 7	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	OMIM:618027
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	ORPHA:329224
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration	ORPHA:2772
Asparagine Synthetase Deficiency	Exaggerated startle response, Optic nerve hypoplasia, Clonus, Tremor, EEG with burst suppression,...	OMIM:615574
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Short stature, Micrognathia, Tremor, Generalized joint laxity, Dysmetria, Grow...	ORPHA:502423
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu recurvatum, Limited hip extension, Flexion contracture, Tibial bowing, Knee dislocation, Sho...	OMIM:143095
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Respiratory arrest, Tachypnea	OMIM:201475
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Delayed CNS myelination, Failure to thrive	OMIM:251000
Follicular Lymphoma	Pleural effusion, Weight loss	ORPHA:545
Pseudomyxoma Peritonei	Respiratory insufficiency, Weight loss	ORPHA:26790
Tularemia	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:3392
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Akinesia, Opisthotonus, Decreased body weight, Neonatal death	OMIM:608013
Mogs-Cdg	Respiratory distress, Absent brainstem auditory responses, Hypoventilation, Apnea, Optic atrophy,...	ORPHA:79330
Frank-Ter Haar Syndrome	Short palm, Osteopenia, Bowing of the long bones, Micrognathia, Metatarsus adductus, Wide anterio...	OMIM:249420
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Postnatal growth re...	OMIM:263750
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal myelination, Dystonia, Rigidity, Truncal ataxia, Astrocytosis, Bradykinesia, Poor fine m...	ORPHA:309854
Loeys-Dietz Syndrome 2	Atrial septal defect, Bicuspid pulmonary valve, Bicuspid aortic valve, Mitral valve prolapse	OMIM:610168
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis, Neonatal inspiratory stridor	ORPHA:684
Geleophysic Dysplasia 1	Short palm, Osteopenia, Short stature, Camptodactyly of finger, Coxa valga, Joint stiffness, Shor...	OMIM:231050
Celiac Disease, Susceptibility To, 1	Ataxia, Short stature, Postnatal growth retardation, Osteoporosis, Rickets, Weight loss, Delayed ...	OMIM:212750
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Carnitine Deficiency, Systemic Primary	Respiratory distress, Failure to thrive	OMIM:212140
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Ataxia, Cachexia, Exertional dyspnea	ORPHA:42
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Ataxia, Severe demyelination of the white matter, Pulmonary embolism, Optic...	ORPHA:79282
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Abnormal neuron branching, Failure to thrive, Respiratory insufficiency	ORPHA:367
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Rhiz...	OMIM:180700
Bronchial Neuroendocrine Tumor	Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Weight loss, Pulmonary carcinoid tumor...	ORPHA:97287
Cronkhite-Canada Syndrome	Aplasia/Hypoplasia of the eyebrow, Cachexia, Tapered finger	ORPHA:2930
Melnick-Needles Syndrome	Delayed eruption of teeth, Short humerus, Obtuse angle of mandible, Hypoplastic scapulae, Pes pla...	OMIM:309350
Arima Syndrome	Dyspnea, Tachypnea, Optic atrophy, Ataxia	OMIM:243910
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Genu ...	OMIM:225500
Renal-Hepatic-Pancreatic Dysplasia 2	Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophi...	OMIM:615415
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea	ORPHA:26793
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Peripheral axonal neuropathy, Broad-based gait, Ataxia, Babinski sign, Dysmetria, Gait ataxia, We...	OMIM:607459
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Bicuspid aortic valve	OMIM:243310
Branchiooculofacial Syndrome	Telecanthus, Facial palsy, Proximal placement of thumb, Micrognathia, Postnatal growth retardatio...	OMIM:113620
Autoimmune Pulmonary Alveolar Proteinosis	Crackles, Dyspnea, Weight loss, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO	ORPHA:747
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Lethargy, Failure to thrive, Rickets, Short stature	OMIM:611590
Mccune-Albright Syndrome	Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Dental malocclusion, Abnormal ...	ORPHA:562
Cocaine Intoxication	Respiratory distress, Involuntary movements, Tremor, Wheezing, Tachypnea, Pneumothorax, Cough, Hy...	ORPHA:90068
Cystinosis	Short stature, Rickets, Abnormal pyramidal sign, Gait disturbance, Delayed puberty, Failure to th...	ORPHA:213
Moynahan Syndrome	Cachexia	ORPHA:2574
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology	OMIM:601162
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Walker-Warburg Syndrome	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:899
Boomerang Dysplasia	Severe short stature, Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia	OMIM:112310
Malignant Peritoneal Mesothelioma	Dyspnea, Weight loss	ORPHA:168811
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Short stature, Brachydactyly	OMIM:613819
Hereditary Central Diabetes Insipidus	Growth delay, Lethargy, Weight loss	ORPHA:30925
Polyarteritis Nodosa	Polyneuritis, Sensory axonal neuropathy, Weight loss	ORPHA:767
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Aortic valve atresia, Double outlet right ventr...	ORPHA:2299
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Peripheral axonal neuropathy, Ataxia, Facial palsy, Tremor, Rigidity, Osteoporosi...	ORPHA:254892
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Optic atrophy, A...	OMIM:234200
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Hurler Syndrome	Cerebral palsy, Abnormal pyramidal sign, Rhinitis, Spastic paraparesis, Abnormal nerve conduction...	ORPHA:93473
Wilson Disease	Increased body weight, Weight loss, Clumsiness, Difficulty walking, Failure to thrive	ORPHA:905
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Right atrial enlargement, Bicuspid aortic valve, Mitral valve prolapse	ORPHA:555877
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan...	OMIM:168000
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Stickler Syndrome	Epicanthus, Telecanthus, Arachnodactyly, Protrusio acetabuli, Abnormal dental enamel morphology, ...	ORPHA:828
Giant Cell Arteritis	Ataxia, Joint stiffness, Optic atrophy, Weight loss, Arthritis, Ptosis	ORPHA:397
Solitary Bone Cyst	Abnormal spinal cord morphology	ORPHA:83468
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis	OMIM:608627
Pulmonary Alveolar Microlithiasis	Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B...	ORPHA:60025
Takayasu Arteritis	Pulmonary arterial hypertension, Abnormal pattern of respiration, Weight loss	ORPHA:3287
Marfan Syndrome	Osteopenia, Pes planus, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Cachexia, Micr...	ORPHA:558
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Spasticity, Hypoplastic vertebral bodies, Flared iliac wing, Short ...	ORPHA:79255
Migraine, Familial Hemiplegic, 2	Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Complete Atrioventricular Septal Defect	Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a...	ORPHA:1329
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Upper airway obstruction	ORPHA:100057
Polymyositis	Respiratory insufficiency, Weight loss, Gait disturbance, Cough, Exertional dyspnea	ORPHA:732
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Carious teeth, Abnormal foot morphology, Rickets, Increased su...	OMIM:146300
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Decreased number of peripheral myelinated nerve fibers, Respiratory distress, Broad-based gait, A...	OMIM:256810
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Dysplastic pulmonary valve	OMIM:619103
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor, Failure to thrive	OMIM:615595
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hypoventilation, Ataxia, Paralysis, Astrocytosis, Hypertonia, Gliosis, Myoclonus, Tetraparesis, T...	OMIM:203700
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia	ORPHA:2140
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia	ORPHA:238459
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Distal Deletion 19P	Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:464453
Congenitally Uncorrected Transposition Of The Great Arteries	Hypoxemia, Tachypnea	ORPHA:860
Congenital Tracheomalacia	Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn...	ORPHA:95430
Histiocytoid Cardiomyopathy	Hemiplegia, Tachypnea, Optic atrophy, Cough	ORPHA:137675
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Orofaciodigital Syndrome Type 1	Micrognathia, Tremor, Reduced bone mineral density, Clinodactyly of the 5th finger, Finger syndac...	ORPHA:2750
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Weight loss, Abnormal breath sound, Cough, Carcinoid tumor, Neuroe...	ORPHA:97289
Aceruloplasminemia	Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim...	ORPHA:48818
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Early ossification of capital femoral epiphyses, Cone-shap...	OMIM:208500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Subcortical heterotopia, Agyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyr...	OMIM:614643
Edinburgh Malformation Syndrome	Abnormality of neuronal migration	ORPHA:1895
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Tibial Hemimelia	Absent tibia	OMIM:275220
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Large for gestational age	ORPHA:226313
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Atrial septal defect, Do...	ORPHA:371428
X-Linked Agammaglobulinemia	Sinusitis, Short stature, Osteomyelitis, Weight loss, Arthritis, Conjunctivitis, Failure to thrive	ORPHA:47
Scorpion Envenomation	Hemifacial spasm, Ataxia, Tremor, Tachypnea, Hyperkinetic movements, Paresthesia, Myoclonus, Abno...	ORPHA:466677
Oculocerebrocutaneous Syndrome	Gray matter heterotopia	OMIM:164180
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Respiratory insufficiency due to muscle weakness, Vocal cord paralysis, Tip-toe ga...	ORPHA:98863
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Growth delay, Failure to thrive, Rickets	OMIM:602722
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Respiratory insufficiency due to muscle weakness, Vocal cord paralysis, Tip-toe ga...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Respiratory insufficiency due to muscle weakness, Vocal cord paralysis, Tip-toe ga...	ORPHA:98853
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Aortic valve st...	ORPHA:2306
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Peters Plus Syndrome	Abnormal cardiac septum morphology, Bicuspid pulmonary valve, Hypoplastic left heart, Pulmonic st...	ORPHA:709
Farber Disease	Respiratory distress, Paraparesis, Respiratory insufficiency, Myoclonus, Spasticity, Failure to t...	ORPHA:333
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Astrocytosis, Bradykine...	OMIM:601104
Cranioectodermal Dysplasia 1	Joint laxity, Broad toe, Brachydactyly, Short humerus, Epicanthus, Telecanthus, Broad distal phal...	OMIM:218330
Orofaciodigital Syndrome Type 4	Finger syndactyly, Failure to thrive, Severe short stature, Camptodactyly of finger, Micromelia, ...	ORPHA:2753
Ramos-Arroyo Syndrome	Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Decrea...	ORPHA:1051
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou...	OMIM:608978
African Trypanosomiasis	Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,...	ORPHA:3385
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Degeneration of anterior horn cells	OMIM:271225
Odontochondrodysplasia	Respiratory distress	ORPHA:166272
Pineoblastoma	Papilledema, Paralysis	ORPHA:251909
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Unsteady gait, Astrocytosis, Abnormality of peri...	ORPHA:90324
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Inability to walk, Delayed myelination, Optic atrophy, Stridor, Pulmonary a...	ORPHA:505248
Xfe Progeroid Syndrome	Severe short stature, Cachexia, Poor coordination, Optic atrophy, Enamel hypoplasia, Failure to t...	OMIM:610965
Hypophosphatemic Rickets, Autosomal Dominant	Short stature, Osteomalacia, Abnormality of the lower limb, Rickets, Hypophosphatemic rickets	OMIM:193100
Sting-Associated Vasculopathy, Infantile-Onset	Tachypnea	OMIM:615934
Methylmalonic Aciduria, Cbla Type	Tremor, Failure to thrive, Respiratory distress	OMIM:251100
Diamond-Blackfan Anemia 1	11 pairs of ribs, Failure to thrive, Epicanthus, Short stature, Absent thumb, Hypoplastic ilia, S...	OMIM:105650
Encephalocraniocutaneous Lipomatosis	Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Pulmonary arterial hyperte...	ORPHA:2396
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:2211
Niemann-Pick Disease Type C	Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Leukodystrophy, Limb dystonia, ...	ORPHA:646
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Tachypnea, Respiratory insufficiency, Tetraplegia, Respiratory failure, Myoclonus, Dystonia	OMIM:618278
Craniofaciofrontodigital Syndrome	Respiratory distress, Large for gestational age, Dyspnea, Hemiparesis, Pulmonary arterial hyperte...	ORPHA:363705
Esophageal Atresia	Respiratory distress, Small for gestational age, Failure to thrive in infancy, Laryngotracheomala...	ORPHA:1199
Joubert Syndrome 5	Central apnea, Ataxia, Episodic tachypnea, Oculomotor apraxia, Neonatal breathing dysregulation	OMIM:610188
Vacterl With Hydrocephalus	Absence of the sacrum, Spina bifida, Micrognathia, Aqueductal stenosis, Hydrocephalus, Hypoplasia...	ORPHA:3412
Congenital Tufting Enteropathy	Arthritis, Failure to thrive, Optic disc coloboma, Weight loss	ORPHA:92050
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Tremor, Cardiorespiratory arrest, Facial palsy, Clonus	OMIM:619424
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Gliosis, Neonatal death	OMIM:231680
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Hemiplegia/hemiparesis, Asthma, Respiratory insufficiency, Weight loss, Gait disturban...	ORPHA:183
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Vocal cord paralysis, Adrenal pheochromocytoma, Chemodectoma, Glom...	OMIM:605373
Chitayat Syndrome	Respiratory distress, Tracheomalacia	OMIM:617180
Dpagt1-Cdg	Arachnodactyly, Ataxia, Akinesia, Tremor, Inability to walk, Flexion contracture, Osteoporosis, O...	ORPHA:86309
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Dystonia, Ataxia, Tremor, Tachypnea, Dysmetria, Truncal ataxia, CNS demyelination, Spasticity, Pe...	OMIM:220111
Lowe Oculocerebrorenal Syndrome	Short stature, Osteomalacia, Camptodactyly of finger, Postnatal growth retardation, Hip dislocati...	OMIM:309000
Hutchinson-Gilford Progeria Syndrome	Micrognathia, Osteoarthritis, Reduced bone mineral density, Shallow orbits, Limitation of movemen...	ORPHA:740
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Neonatal death	OMIM:300219
Li-Ghorbani-Weisz-Hubshman Syndrome	Periventricular heterotopia	OMIM:618974
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Failure to thrive, Rickets, Short stature	OMIM:211600
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Optic nerve compression	OMIM:259730
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea,...	ORPHA:25
Desmosterolosis	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:35107
Whipple Disease	Ataxia, Cachexia, Hydrocephalus, Abnormal pyramidal sign, Pedal edema, Arthritis, Myoclonus	ORPHA:3452
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Tachypnea, Pneumonia	ORPHA:36234
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Delayed CNS myelination, Tremor, Dyspnea, Babinski sign, Hypertonia, Spasticity, Failure to thriv...	OMIM:616539
Sarcoidosis, Susceptibility To, 1	Optic neuropathy, Bone cyst, Clubbing, Enlarged lacrimal glands, Weight loss, Arthritis	OMIM:181000
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype...	OMIM:616482
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Brachydactyly, Cachexia, Short palm, Hemiplegia, Ptosis	ORPHA:3217
Contractural Arachnodactyly, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse	OMIM:121050
Choanal Atresia	Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal...	ORPHA:137914
Monosomy 18Q	Absence of the pulmonary valve, Secundum atrial septal defect, Pulmonary valve defects, Aortic va...	ORPHA:1600
Gabriele-De Vries Syndrome	Hallux valgus, Waddling gait, Telecanthus, Sandal gap, Small for gestational age, Craniosynostosi...	ORPHA:506358
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis	OMIM:615911
Thanatophoric Dysplasia Type 2	Abnormality of neuronal migration	ORPHA:93274
Systemic Capillary Leak Syndrome	Cardiorespiratory arrest, Weight loss, Cough, Pleural effusion, Rhinorrhea	ORPHA:188
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Atrial Septal Defect, Ostium Primum Type	Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmonary arteria...	ORPHA:99106
Generalized Pseudohypoaldosteronism Type 1	Cough, Wheezing, Failure to thrive in infancy, Weight loss	ORPHA:171876
Secondary Short Bowel Syndrome	Growth delay, Failure to thrive, Aganglionic megacolon, Weight loss	ORPHA:95427
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Micromelia, Sh...	ORPHA:3003
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect...	ORPHA:457279
Mucopolysaccharidosis Type 2	Papilledema, Decreased nerve conduction velocity, Optic atrophy, Upper airway obstruction, Abnorm...	ORPHA:580
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Atrial septal defect, Bicuspid aortic valve	OMIM:619720
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Inability to w...	ORPHA:365
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion, Abnormal cranial nerve morphology	ORPHA:1546
Alveolar Echinococcosis	Abnormal pelvis bone morphology, Ataxia, Bone cyst, Pedal edema, Weight loss, Hemiparesis	ORPHA:284
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis	ORPHA:37553
Hypercholanemia, Familial 1	Failure to thrive, Rickets	OMIM:607748
Thymoma	Cough, Dyspnea, Demyelinating peripheral neuropathy, Weight loss	ORPHA:99867
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Al Amyloidosis	Nonproductive cough, Dyspnea, Weight loss, Abnormal autonomic nervous system physiology, Postural...	ORPHA:85443
Gitelman Syndrome	Ataxia, Paresthesia, Paralysis	OMIM:263800
Congenital Tricuspid Valve Dysplasia	Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea	ORPHA:555874
Double Outlet Right Ventricle	Tachypnea	ORPHA:3426
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, Eyelid coloboma, Shallow orbits, Phocome...	OMIM:268300
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Pfapa Syndrome	Weight loss	ORPHA:42642
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Ataxia, Apnea, Inability to walk, Vocal cord paralysis, Hyperkinetic movem...	OMIM:617799
Combined Oxidative Phosphorylation Deficiency 3	Ataxia, Optic neuropathy, Tremor, Dyspnea, Optic atrophy, Respiratory insufficiency, Respiratory ...	OMIM:610505
Congenital Muscular Dystrophy With Cerebellar Involvement	Gray matter heterotopia, Polymicrogyria, Type II lissencephaly	ORPHA:370959
Cog1-Cdg	Osteopenia, Rhizomelia, Micrognathia, Coxa valga, Postnatal growth retardation, Flat acetabular r...	ORPHA:263508
Cholera	Tachypnea, Aspiration pneumonia, Hyperventilation	ORPHA:173
Ataxia-Telangiectasia	Sinusitis, Ataxia, Tremor, Inability to walk, Slurred speech, Bronchiectasis, Choreoathetosis, Pr...	OMIM:208900
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Short stature, Cachexia, Genu varum, Ptosis	ORPHA:1969
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Acquired Hypertrichosis Lanuginosa	Abnormal eyelid morphology, Abnormal eyebrow morphology, Weight loss	ORPHA:2221
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Focal Myositis	Weight loss	ORPHA:48918
Tetrasomy 5P	Respiratory distress, Pulmonary arterial hypertension, Failure to thrive	ORPHA:3309
Hyperparathyroidism, Neonatal Severe	Dyspnea, Tachypnea	OMIM:239200
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Optic atrophy	ORPHA:1555
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Early Infantile Epileptic Encephalopathy	EEG with spike-wave complexes, Tremor, EEG with burst suppression, Delayed myelination, Hypsarrhy...	ORPHA:1934
Late-Onset Isolated Acth Deficiency	Orthostatic hypotension, Generalized bone demineralization, Weight loss, Lethargy, Failure to thrive	ORPHA:199299
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology	ORPHA:100070
Congenital Bile Acid Synthesis Defect Type 2	Postnatal growth retardation, Failure to thrive, Rickets	ORPHA:79303
Alg9-Cdg	Microretrognathia, Lower limb spasticity, Telecanthus, Ulnar deviation of the hand, Rhizomelia, T...	ORPHA:79328
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pyramidal sign, ...	ORPHA:447753
Isolated Permanent Neonatal Diabetes Mellitus	Peripheral axonal neuropathy, Ataxia, Bilateral ptosis, Weight loss, Lower-limb joint contracture...	ORPHA:99885
Cystinosis, Nephropathic	Failure to thrive in infancy, Short stature, Metaphyseal widening, Rickets, Genu valgum, Weight l...	OMIM:219800
3-Methylglutaconic Aciduria, Type Viii	Apnea, Clonus, Tremor, Hypopnea, Respiratory failure, Hypertonia, Dystonia, Neonatal death, Respi...	OMIM:617248
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:585
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Aortic valve stenosis, Bicuspid aortic valve	OMIM:614501
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure, Weight loss	ORPHA:3226
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Clubbing of fingers, Clubbing, Cachexia	OMIM:175500
Thrombotic Thrombocytopenic Purpura, Hereditary	Tremor, Respiratory distress	OMIM:274150
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven...	OMIM:619702
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia	OMIM:202650
Thanatophoric Dysplasia	Gray matter heterotopia	ORPHA:2655
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Felty Syndrome	Sinusitis, Limitation of joint mobility, Osteolysis, Synovitis, Weight loss, Arthritis	ORPHA:47612
Neuroendocrine Tumor Of The Colon	Bronchospasm, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100080
Leishmaniasis	Rhinitis, Weight loss	ORPHA:507
Robinow Syndrome, Autosomal Recessive 2	Bicuspid aortic valve	OMIM:618529
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Aortic Aneurysm, Familial Thoracic 10	Left ventricular hypertrophy, Bicuspid aortic valve	OMIM:617168
Loeys-Dietz Syndrome 4	Bicuspid aortic valve, Mitral valve prolapse	OMIM:614816
Rift Valley Fever	Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis	ORPHA:319251
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration	ORPHA:2518
Brucellosis	Osteomyelitis, Small for gestational age, Abnormality of the peripheral nervous system, Chorea, K...	ORPHA:1304
Diaphanospondylodysostosis	Respiratory distress, Tracheomalacia, Respiratory insufficiency	OMIM:608022
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration, Abnormal neuron morphology	ORPHA:163681
Restrictive Dermopathy 2	Respiratory distress	OMIM:619793
Lujo Hemorrhagic Fever	Respiratory distress, Resting tremor, Crackles, Nonproductive cough, Rhinitis	ORPHA:319213
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Conjunctival hamartoma, Weight loss	ORPHA:312
Yao Syndrome	Asthma, Weight loss	OMIM:617321
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Eosinophilic Gastroenteritis	Asthma, Allergic rhinitis, Weight loss	ORPHA:2070
Acute Monoblastic/Monocytic Leukemia	Exertional dyspnea, Weight loss	ORPHA:514
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Restrictive ventilatory defect, Waddling gait	OMIM:183900
Vater/Vacterl Association	Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Postnatal growth r...	OMIM:192350
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Hand tremor, Weight loss	ORPHA:424
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
X Small Rings	Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve	ORPHA:96201
Primary Hepatic Neuroendocrine Carcinoma	Dyspnea, Weight loss, Bronchospasm, Neuroendocrine neoplasm, Carcinoid tumor	ORPHA:100085
Pachyonychia Congenita	Respiratory distress, Failure to thrive	ORPHA:2309
Lynch Syndrome	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia, Gait disturbance	ORPHA:144
Fanconi Renotubular Syndrome 2	Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Rickets	OMIM:613388
Aggressive Systemic Mastocytosis	Pathologic fracture, Osteoporosis, Osteolysis, Weight loss	ORPHA:98850
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Hypoplastic left heart, Pulmonic stenosis, Atri...	OMIM:100300
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Periventricular heterotopia	ORPHA:255138
Acute Promyelocytic Leukemia	Exertional dyspnea, Epistaxis, Productive cough, Weight loss	ORPHA:520
Amoebiasis Due To Entamoeba Histolytica	Dyspnea, Weight loss, Pleural empyema, Cough, Pleural effusion	ORPHA:67
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus...	ORPHA:3186
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ptosis, Short stature, Highly arched eyebrow, Micrognathia, Synophrys, Small hand, Obesity, Fibul...	ORPHA:444077
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Tachypnea	OMIM:615751
Sepsis In Premature Infants	Small for gestational age, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respi...	ORPHA:90051
Drug Reaction With Eosinophilia And Systemic Symptoms	Cough, Dyspnea, Interstitial pneumonitis, Weight loss	ORPHA:139402
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Failure to thrive, Congenital hip dislocation, Ankle flexion contracture, Microg...	ORPHA:2020
Bannayan-Riley-Ruvalcaba Syndrome	Short stature, Cachexia, Micrognathia, Joint hyperflexibility, Broad thumb	ORPHA:109
Familial Colorectal Cancer Type X	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia, Gait disturbance	ORPHA:440437
Neuroendocrine Tumor Of The Rectum	Bronchospasm, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Bronchospasm, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100082
Rh Deficiency Syndrome	Hypoxemia, Tachypnea	ORPHA:71275
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Polymicrogyria	OMIM:617397
Koolen-De Vries Syndrome	Abnormal cardiac septum morphology, Bicuspid aortic valve	ORPHA:96169
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Failure to thrive in infancy	OMIM:612852
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis	OMIM:610759
Van Maldergem Syndrome 1	Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ...	OMIM:601390
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress, Failure to thrive, Small for gestational age	OMIM:260400
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Failure to thrive	OMIM:251110
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Galloway-Mowat Syndrome	Pachygyria, Abnormality of neuronal migration	ORPHA:2065
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Juvenile Polyposis Of Infancy	Short stature, Cachexia, Clubbing of fingers, Midclavicular hypoplasia, Downslanted palpebral fis...	ORPHA:79076
Kaposi Sarcoma	Abnormality of the lower limb, Weight loss	ORPHA:33276
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Optic atrophy	OMIM:123790
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Exercise-Induced Malignant Hyperthermia	Tachypnea, Ataxia, Crackles, Hypocapnia	ORPHA:466650
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Micrognathia, Tremor, Synophrys, Clinodactyly of the 5th finger, Prominent...	OMIM:612474
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Multiple Endocrine Neoplasia Type 1	Pancreatic endocrine tumor, Cranial nerve compression, Insulinoma, Osteolysis, Reduced bone miner...	ORPHA:652
Igg4-Related Aortitis	Asthma, Weight loss	ORPHA:449400
Koolen-De Vries Syndrome	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis	OMIM:610443
Multisystemic Smooth Muscle Dysfunction Syndrome	Pulmonary arterial hypertension, Tachypnea	OMIM:613834
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, We...	ORPHA:31204
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Disproportion...	OMIM:619479
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Mgat2-Cdg	Respiratory distress, Failure to thrive, Hypsarrhythmia	ORPHA:79329
Aicardi-Goutieres Syndrome 7	Lower limb spasticity, Pneumonia, Spastic tetraparesis, Delayed myelination, Tetraplegia, Weight ...	OMIM:615846
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Listeriosis	Respiratory distress, Ataxia, Pneumonia, Tremor, Hemiparesis, Respiratory failure, Myoclonus	ORPHA:533
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Tracheomalacia	OMIM:217980
Cap Polyposis	Weight loss	ORPHA:160148
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Gray matter heterotopia, Lissencephaly, Simplified gyral pattern	OMIM:615219
Lateral Meningocele Syndrome	Ventricular septal defect, Bicuspid aortic valve	OMIM:130720
Bullous Pemphigoid	Weight loss	ORPHA:703
Q Fever	Respiratory distress, Pneumonia, Weight loss, Cough, Pleural effusion	ORPHA:781
3C Syndrome	Abnormality of neuronal migration	ORPHA:7
Malignant Hyperthermia Of Anesthesia	Tachypnea, Hypercapnia	ORPHA:423
Eosinophilic Fasciitis	Weight loss	ORPHA:3165
Bile Acid Synthesis Defect, Congenital, 1	Failure to thrive, Rickets	OMIM:607765
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Fanconi-Bickel Syndrome	Postnatal growth retardation, Failure to thrive, Rickets, Osteomalacia	OMIM:227810
Acrodermatitis Enteropathica	Abnormal eyebrow morphology, Short stature, Abnormal eyelid morphology, Weight loss, Conjunctivit...	ORPHA:37
Proteus Syndrome	Hallux valgus, Finger syndactyly, Macrodactyly, Craniosynostosis, Metatarsus valgus, Abnormal den...	ORPHA:744
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Atrial septal defect, Patent foramen ovale, Valvular pulmonary stenosis, Bicuspid aortic valve	OMIM:300707
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula...	OMIM:245600
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Liposarcoma	Weight loss	ORPHA:69078
Kleefstra Syndrome	Ventricular septal defect, Tetralogy of Fallot, Bicuspid aortic valve	ORPHA:261494
Rajab Interstitial Lung Disease With Brain Calcifications 1	Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema	OMIM:613658
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Failure to thrive in infancy, Pneumonia, Cachexia, Interstitial pneumonitis	ORPHA:37042
Familial Gestational Hyperthyroidism	Hand tremor, Weight loss	ORPHA:99819
Medullary Thyroid Carcinoma	Pheochromocytoma, Weight loss	ORPHA:1332
Carnitine Palmitoyltransferase Ii Deficiency	Polymicrogyria, Pachygyria, Abnormality of neuronal migration	ORPHA:157
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia	OMIM:614105
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia, Short stature	OMIM:134600
Williams Syndrome	Osteopenia, Micrognathia, Tremor, Dysmetria, Clinodactyly of the 5th finger, Spina bifida occulta...	ORPHA:904
Toxic Epidermal Necrolysis	Respiratory distress, Restrictive ventilatory defect, Cough, Weight loss	ORPHA:537
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Epicanthus, Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Supernumerary tooth...	OMIM:617088
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:614887
Distal Renal Tubular Acidosis	Respiratory insufficiency due to muscle weakness, Paralysis	ORPHA:18
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension	ORPHA:2519
Arboleda-Tham Syndrome	Respiratory distress, Neonatal respiratory distress, Optic atrophy, Lower limb hypertonia, Gait i...	OMIM:616268
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Aqueductal stenosis, Myelomen...	OMIM:306955
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Syringomyelia, Myelitis	ORPHA:1320
Friedreich Ataxia 2	Babinski sign, Incoordination, Ataxia, Abnormality of peripheral nerve conduction	OMIM:601992
Mucopolysaccharidosis Type 3	Vocal cord paresis, Ataxia, Optic atrophy, Abnormal pyramidal sign, Upper airway obstruction, Hyp...	ORPHA:581
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect...	ORPHA:453499
Renal Nutcracker Syndrome	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss	ORPHA:71273
Progeroid Short Stature With Pigmented Nevi	Aortic valve stenosis, Bicuspid aortic valve	OMIM:176690
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Schinzel-Giedion Syndrome	Respiratory distress, Aganglionic megacolon, Failure to thrive in infancy, Recurrent pneumonia, V...	ORPHA:798
Alkuraya-Kucinskas Syndrome	Gray matter heterotopia, Lissencephaly	OMIM:617822
Gitelman Syndrome	Respiratory distress, Paresthesia, Paralysis	ORPHA:358
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Abnormal myelination	OMIM:617333
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polymicrogyria, Abnormality of neuronal migration	OMIM:608836
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Growth delay, Keratoconjunctivitis sicca	ORPHA:309031
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspnea, Weight loss, Aspiration pneumonia, Cough, Failure to thrive	ORPHA:1018
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets, Short stature, Large for gestational age	OMIM:616026
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Partial anomalous pulmo...	OMIM:265380
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Postnatal growth retardation, Humeroradial synosto...	ORPHA:3404
Lacrimoauriculodentodigital Syndrome 1	Preaxial polydactyly, Radial deviation of the 3rd finger, Conical incisor, Conjunctivitis, Tripha...	OMIM:149730
Ane Syndrome	Motor neuron atrophy	ORPHA:157954
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Arterial Tortuosity Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest	ORPHA:3342
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Neuroendocrine Tumor Of Stomach	Weight loss, Bronchospasm, Paraganglioma, Atypical pulmonary carcinoid tumor, Carcinoid tumor	ORPHA:100075
Adnp Syndrome	Respiratory distress, Truncal obesity, Hypertonia, Aspiration	ORPHA:404448
Igg4-Related Dacryoadenitis And Sialadenitis	Palpebral edema, Enlarged lacrimal glands, Abnormality of the orbital region, Weight loss, Abnorm...	ORPHA:79078
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Polymicrogyria	OMIM:619775
Refractory Celiac Disease	Osteoporosis, Weight loss	ORPHA:398063
Polycythemia Vera	Pulmonary embolism, Epistaxis, Respiratory insufficiency, Weight loss	ORPHA:729
Vici Syndrome	Gray matter heterotopia	ORPHA:1493
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion...	ORPHA:340
Coffin-Lowry Syndrome	Abnormality of neuronal migration	ORPHA:192
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
Familial Glucocorticoid Deficiency	Failure to thrive, Tetraplegia, Weight loss	ORPHA:361
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity, Apnea	ORPHA:285
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Alg11-Cdg	Gray matter heterotopia	ORPHA:280071
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Polymicrogyria, Pachygyria, Abnormality of neuronal migration	ORPHA:228308
Peripheral Primitive Neuroectodermal Tumor	Torticollis, Weight loss	ORPHA:370348
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Periventricular heterotopia	OMIM:619833
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Inspiratory stridor	ORPHA:100050
Granulomatosis With Polyangiitis	Sinusitis, Respiratory insufficiency, Weight loss, Cough, Rhinorrhea	OMIM:608710
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Pulmonary embolism, Dyspnea, Asthma, Cough, Pleural effusion, Failure to th...	ORPHA:3260
Rodrigues Blindness	Nasal flaring	OMIM:268320
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Nephroblastoma	Weight loss	ORPHA:654
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia	ORPHA:93260
Acute Adrenal Insufficiency	Orthostatic hypotension, Failure to thrive, Delayed puberty, Weight loss	ORPHA:95409
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria	OMIM:247200
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Juvenile Dermatomyositis	Cough, Restrictive ventilatory defect, Dyspnea, Weight loss	ORPHA:93672
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Pemphigus Vulgaris	Weight loss	ORPHA:704
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Oculomotor apraxia, Abnormal myelination	ORPHA:67045
Addison Disease	Orthostatic hypotension, Generalized bone demineralization, Weight loss, Delayed puberty, Failure...	ORPHA:85138
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Syndromic Diarrhea	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect...	ORPHA:84064
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress	OMIM:300968
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Pulmonary valve atresia, Ventricular septal defect	OMIM:301030
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Respiratory failure, Chylothorax	OMIM:620278
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Obesity	ORPHA:177907
Solitary Fibrous Tumor	Hypophosphatemic rickets, Weight loss	ORPHA:2126
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Unilateral vocal cord paralysis, Optic atrophy	ORPHA:324540
Rubinstein-Taybi Syndrome 1	Respiratory distress, Incoordination, Small for gestational age, Poor coordination, Unsteady gait...	OMIM:180849
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Periventricular heterotopia	OMIM:618870
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Adrenomyeloneuropathy	Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology	ORPHA:139399
Ménétrier Disease	Weight loss	ORPHA:2494
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, EEG with burst suppression, Pleural effusion, Apnea	OMIM:261740
Chime Syndrome	Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre...	ORPHA:3474
Superficial Siderosis	Atrophy of the spinal cord, Abnormal spinal cord morphology, Dysgyria	ORPHA:247245
Stevens-Johnson Syndrome	Cough, Restrictive ventilatory defect, Dyspnea, Weight loss	ORPHA:36426
Acute Disseminated Encephalomyelitis	Abnormal spinal cord morphology, Myelitis	ORPHA:83597
Malignant Atrophic Papulosis	Pleural effusion, Respiratory failure, Weight loss	ORPHA:679
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia	OMIM:615546
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Cystic Echinococcosis	Bone cyst, Weight loss	ORPHA:400
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Primary Intestinal Lymphangiectasia	Pleural effusion, Weight loss	ORPHA:90362
Wolman Disease	Cachexia	ORPHA:75233
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia	OMIM:219730
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri...	ORPHA:1596
Castleman Disease	Cough, Dyspnea, Weight loss	ORPHA:160
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Aortic valve stenosis, Bicuspid aortic valve	OMIM:613563
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia	ORPHA:26791
X-Linked Cerebral Adrenoleukodystrophy	Myelopathy, Abnormal spinal cord morphology	ORPHA:139396
Carney-Stratakis Syndrome	Paraganglioma, Weight loss	ORPHA:97286
Stüve-Wiedemann Syndrome	Respiratory distress, Asthma, Apnea, Abnormal autonomic nervous system physiology	ORPHA:3206
Holoprosencephaly	Spinal cord tumor, Abnormality of neuronal migration, Spinal dysraphism	ORPHA:2162
Robinow Syndrome	Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Pu...	ORPHA:97360
Granulomatosis With Polyangiitis	Sinusitis, Epistaxis, Chronic pulmonary obstruction, Respiratory insufficiency, Weight loss, Rest...	ORPHA:900
Hunter-Macdonald Syndrome	Bicuspid aortic valve, Mitral valve prolapse	OMIM:611962
16P13.11 Microdeletion Syndrome	Abnormality of neuronal migration	ORPHA:261236
Behçet Disease	Ataxia, Pulmonary embolism, Abnormal pyramidal sign, Weight loss, Hemiparesis, Gait disturbance, ...	ORPHA:117
Frontometaphyseal Dysplasia 2	Patent foramen ovale, Bicuspid aortic valve, Pulmonic stenosis	OMIM:617137
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Perimembranous ventricular ...	ORPHA:508498
Tsh-Secreting Pituitary Adenoma	Osteopenia, Tremor, Osteoporosis, Weight loss, Delayed puberty, Periodic hypokalemic paresis, Ptosis	ORPHA:91347
Reactive Arthritis	Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Weight loss, Arthritis, Conjun...	ORPHA:29207
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Gray matter heterotopia, Frontal polymicrogyria, Pachygyria	OMIM:620024
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Failure to ...	ORPHA:79404
Goodpasture Syndrome	Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional dyspnea	OMIM:233450
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Asthma, Poor coordination, Obesity, Nasal flaring	ORPHA:466943
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Weight loss, Areflexia of lower limbs, Slender build, Ptosis	OMIM:603041
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Periventricular heterotopia	OMIM:618929
Systemic Mastocytosis With Associated Hematologic Neoplasm	Increased susceptibility to fractures, Osteoporosis, Weight loss	ORPHA:98849
6Q Terminal Deletion Syndrome	Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal migration, Periventricular heter...	ORPHA:75857
Aicardi Syndrome	Gray matter heterotopia, Pachygyria, Polymicrogyria, Spina bifida	OMIM:304050
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Failure to thrive	OMIM:617156
Bohring-Opitz Syndrome	Gray matter heterotopia	OMIM:605039
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Imerslund-Gräsbeck Syndrome	Failure to thrive, Weight loss	ORPHA:35858
Immunodeficiency 31C	Osteopenia, Osteomyelitis, Short stature, Weight loss, Growth delay, Delayed puberty	OMIM:614162
Peroxisome Biogenesis Disorder 1A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:214100
Primary Myelofibrosis	Cachexia	ORPHA:824
Pagod Syndrome	Abnormality of neuronal migration, Spina bifida	ORPHA:991
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Anemia, Congenital Dyserythropoietic, Type Iv	Wide anterior fontanel, Short stature, Weight loss	OMIM:613673
Hermansky-Pudlak Syndrome	Dyspnea, Epistaxis, Weight loss	ORPHA:79430
Gallbladder Neuroendocrine Tumor	Neuroendocrine neoplasm, Weight loss	ORPHA:100086
Osteoglophonic Dysplasia	Respiratory distress, Failure to thrive	OMIM:166250
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss	ORPHA:54251
Postinfectious Vasculitis	Arthritis, Weight loss, Abnormality of the peripheral nervous system	ORPHA:48435
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Calcification of the auricular cartilage, Failure to thrive in infancy, ...	ORPHA:51608
Oculogastrointestinal Muscular Dystrophy	Cachexia, Ptosis	ORPHA:1876
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Doors Syndrome	Respiratory distress, Optic atrophy, EEG abnormality, Myoclonus, Aspiration pneumonia	ORPHA:79500
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Short stature	OMIM:612089
Infantile Nephropathic Cystinosis	Growth delay, Failure to thrive, Rickets	ORPHA:411629
Coccidioidomycosis	Respiratory distress, Pneumonia, Pleural empyema, Cough, Exudative pleural effusion	ORPHA:228123
Scimitar Syndrome	Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough	ORPHA:185
Bilateral Perisylvian Polymicrogyria	Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per...	ORPHA:98889
Insulin-Resistance Syndrome Type B	Pneumonia, Abnormality of body weight, Increased body weight, Weight loss, Decreased body weight	ORPHA:2298
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology	ORPHA:352665
Hereditary Amyloidosis With Primary Renal Involvement	Weight loss	ORPHA:85450
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Congenital Tracheal Stenosis	Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction	ORPHA:141127
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:618918
Tyrosinemia, Type I	Periodic paralysis	OMIM:276700
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm...	ORPHA:363958
Sarcoidosis	Facial palsy, Dacryocystitis, Bone cyst, Enlarged lacrimal glands, Weight loss, Abnormal conjunct...	ORPHA:797
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive	ORPHA:2556
Familial Thrombocytosis	Pulmonary arterial hypertension, Weight loss	ORPHA:71493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Gray matter heterotopia, Hydromyelia, Type II lissencephaly	OMIM:615287
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Lissencephaly, Polymicrogyria	ORPHA:468631
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Periventricular heterotopia	OMIM:618476
Simple Cryoglobulinemia	Arthritis, Weight loss	ORPHA:91139
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Secundum atrial septal defect, Bicuspid aortic valve	OMIM:613355
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Weight loss, Failure to thrive, Short stature, Premature fusion of the radial epiphyseal plates	ORPHA:90794
Cerebrofacioarticular Syndrome	Gray matter heterotopia	ORPHA:314679
Tuberous Sclerosis Complex	Respiratory distress, Pancreatic endocrine tumor, Respiratory failure, Pheochromocytoma, Carcinoi...	ORPHA:805
Lysosomal Acid Lipase Deficiency	Pulmonary arterial hypertension, Failure to thrive, Cachexia, Weight loss	ORPHA:275761
Degcags Syndrome	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Patent foramen ovale, Dysplas...	OMIM:619488
Ogden Syndrome	Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum...	OMIM:300855
Primary Fanconi Renotubular Syndrome	Osteomalacia, Increased susceptibility to fractures, Growth delay, Weight loss, Hypophosphatemic ...	ORPHA:3337
Grfoma	Pheochromocytoma, Palmoplantar hyperhidrosis, Intestinal carcinoid, Weight loss	ORPHA:97261
16Q24.3 Microdeletion Syndrome	Periventricular heterotopia	ORPHA:261250
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis	OMIM:305100
Leptospirosis	Respiratory distress, Papilledema, Pleural effusion, Cough	ORPHA:509
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A...	ORPHA:353281
Kyphoscoliotic Ehlers-Danlos Syndrome	Bicuspid aortic valve, Dextrocardia	ORPHA:536545
Klatskin Tumor	Weight loss	ORPHA:99978
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid arthritis, Pedal edema, Weight loss	ORPHA:49041
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic endocrine tumor, Osteoporosis, Increased body weight, Pedal edema, Pulmonary carcinoid...	ORPHA:99889
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea	ORPHA:2330
Zollinger-Ellison Syndrome	Weight loss, Neuroendocrine neoplasm, Glucagonoma	ORPHA:913
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormality of neuronal migration	ORPHA:464311
Ileal Neuroendocrine Tumor	Small intestine carcinoid, Weight loss	ORPHA:100078
Marfan Syndrome	Mitral valve prolapse, Bicuspid aortic valve, Tricuspid valve prolapse, Mitral annular calcification	OMIM:154700
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Hereditary Sensory And Autonomic Neuropathy Type 4	Orthostatic hypotension due to autonomic dysfunction, Difficulty walking, Abnormality of the auto...	ORPHA:642
Microsporidiosis	Osteomyelitis, Sinusitis, Cachexia, Keratoconjunctivitis, Weight loss	ORPHA:2552
Vipoma	Ganglioneuroma, Weight loss	ORPHA:97282
Nijmegen Breakage Syndrome	Short stature, Cachexia, Abnormal eyelid morphology, Upslanted palpebral fissure, Retrognathia	ORPHA:647
Caroli Disease	Conjunctival icterus, Weight loss	ORPHA:53035
Igg4-Related Thyroid Disease	Vocal cord paralysis	ORPHA:64744
Opitz-Kaveggia Syndrome	Gray matter heterotopia	OMIM:305450
Ppoma	Intestinal carcinoid, Weight loss	ORPHA:97278
Plague	Respiratory distress, Unsteady gait, Slurred speech, Acute infectious pneumonia	ORPHA:707
Multiple Myeloma	Osteopenia, Pathologic fracture, Weight loss	ORPHA:29073
Norrie Disease	Clonus, Cachexia, Optic atrophy, Hypertonia, Delayed puberty, Malar flattening, Failure to thrive	ORPHA:649
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Parathyroid Carcinoma	Osteoporosis, Mandibular pain, Weight loss	ORPHA:143
Primary Sclerosing Cholangitis	Osteopenia, Osteoporosis, Weight loss	ORPHA:171
Chronic Graft Versus Host Disease	Dyspnea, Wheezing, Pneumothorax, Bronchiectasis, Weight loss, Cough, Pleural effusion, Airway obs...	ORPHA:99921
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A...	ORPHA:438213
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia	OMIM:600740
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Failure to thrive	ORPHA:83617
Kikuchi-Fujimoto Disease	Pleural effusion, Ataxia, Weight loss	ORPHA:50918
45,X/46,Xy Mixed Gonadal Dysgenesis	Bicuspid aortic valve	ORPHA:1772
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Waddling gait, Delayed myelination, Recurrent pneumonia, Failure to thrive	ORPHA:99646
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Failure to thrive, Small for gestational age	ORPHA:2255
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia	OMIM:276300
Fontaine Progeroid Syndrome	Left ventricular hypertrophy, Atrial septal defect, Bicuspid aortic valve, Abnormal heart morphology	OMIM:612289
Truncus Arteriosus	Tachypnea	ORPHA:3384
Orofaciodigital Syndrome I	Gray matter heterotopia, Abnormal cortical gyration	OMIM:311200
Rat-Bite Fever	Arthritis, Oligoarthritis, Septic arthritis, Weight loss	ORPHA:31205
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ventricular septal defect, Bicuspid aortic valve	OMIM:619475
Vici Syndrome	Gray matter heterotopia	OMIM:242840
Eisenmenger Syndrome	Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pulmonary art...	ORPHA:97214
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A...	ORPHA:353277
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyo...	OMIM:607872
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co...	ORPHA:95455
Dermatomyositis	Pulmonary arterial hypertension, Respiratory insufficiency, Weight loss	ORPHA:221
Immunodeficiency 82 With Systemic Inflammation	Arthritis, Osteomyelitis, Osteomalacia, Weight loss	OMIM:619381
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Weight loss	ORPHA:91500
Amoebiasis Due To Free-Living Amoebae	Abnormal spinal cord morphology	ORPHA:68
Tetrasomy 9P	Abnormal spinal cord morphology, Pachygyria, Lissencephaly, Polymicrogyria	ORPHA:3310
Codas Syndrome	Vocal cord paresis	OMIM:600373
Mosaic Trisomy 20	Abnormal spinal cord morphology	ORPHA:1724
Familial Pancreatic Carcinoma	Weight loss	ORPHA:1333
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Bicuspid aortic valve, Mitral valve prolapse, Pulmonic stenosis, Atrial ...	OMIM:613795
Genitourinary And/Or Brain Malformation Syndrome	Gray matter heterotopia, Polymicrogyria	OMIM:618820
Pancreatoblastoma	Weight loss	ORPHA:677
Williams-Beuren Syndrome	Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Myxomatous mitral valve ...	OMIM:194050
Pyomyositis	Weight loss	ORPHA:764
Feingold Syndrome 1	Vocal cord paralysis	OMIM:164280
Tropical Pancreatitis	Weight loss	ORPHA:103918
Igg4-Related Kidney Disease	Dacryocystitis, Chronic sinusitis, Pedal edema, Weight loss	ORPHA:449395
Malt Lymphoma	Abnormal nasolacrimal system morphology, Weight loss	ORPHA:52417
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Difficulty walking	ORPHA:480880
Turner Syndrome Due To Structural X Chromosome Anomalies	Atrial septal defect, Bicuspid aortic valve, Hypoplastic left heart	ORPHA:99413
Mosaic Monosomy X	Atrial septal defect, Bicuspid aortic valve, Hypoplastic left heart	ORPHA:99228
Monosomy X	Atrial septal defect, Bicuspid aortic valve, Hypoplastic left heart	ORPHA:99226
Turner Syndrome	Atrial septal defect, Bicuspid aortic valve, Hypoplastic left heart	ORPHA:881
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Respiratory acidosis	OMIM:614748
Limb Body Wall Complex	Abnormal spinal cord morphology, Spina bifida occulta, Spina bifida	ORPHA:2369
Trichorhinophalangeal Syndrome, Type Ii	Partial anomalous pulmonary venous return, Bicuspid aortic valve, Right ventricular hypertrophy	OMIM:150230
Somatostatinoma	Weight loss	ORPHA:97283
Glucagonoma	Weight loss	ORPHA:97280
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Arthritis, Weight loss	OMIM:301074
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn...	ORPHA:99125
Alström Syndrome	Respiratory distress, Optic disc pallor, Incoordination, Ataxia, Chronic pulmonary obstruction, R...	ORPHA:64
Pmm2-Cdg	Respiratory distress, Abnormality of coordination, Ataxia, Delayed myelination, Aspiration pneumo...	ORPHA:79318
Primary Sjögren Syndrome	Abnormal spinal cord morphology	ORPHA:289390
Familial Hypocalciuric Hypercalcemia	Osteomalacia	ORPHA:405
Tropical Endomyocardial Fibrosis	Orthopnea, Dyspnea, Pulmonary venous hypertension, Cachexia	ORPHA:75565
Orofaciodigital Syndrome Xiv	Polymicrogyria, Simplified gyral pattern, Periventricular heterotopia	OMIM:615948
Smith-Lemli-Opitz Syndrome	Periventricular heterotopia	OMIM:270400
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Abnormal pulmonary valve morphology, Abnormal heart morphology, Pulmonic s...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal h...	ORPHA:261552
Mowat-Wilson Syndrome	Bicuspid aortic valve, Abnormal heart morphology, Abnormal cardiac septum morphology, Pulmonic st...	ORPHA:2152
Orofaciodigital Syndrome Type 14	Periventricular heterotopia	ORPHA:434179
Genitopatellar Syndrome	Pachygyria, Periventricular heterotopia	OMIM:606170
Microphthalmia, Syndromic 1	Bicuspid aortic valve	OMIM:309800

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.

There is no histopathology data for Egr2

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 Egr2.

No publications found that use IMPC mice or data for Egr2.

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MGI Allele	Allele Type	Produced
Egr2^{tm96452(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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