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Gene: Clcn1 MGI:88417

Gene Summary

Name:

chloride channel, voltage-sensitive 1

Synonyms:

Clc1, nmf355, NMF355, SMCC1, Clc-1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
microphthalmia	Clcn1^em1(IMPC)Mbp	HOM	Early adult	0.00
tremors	Clcn1^em1(IMPC)Mbp	HOM	Early adult	3.98×10^-21
decreased vertical activity	Clcn1^em1(IMPC)Mbp	HOM	Early adult	9.46×10^-05
decreased heart weight	Clcn1^em1(IMPC)Mbp	HOM	Early adult	3.42×10^-05
decreased prepulse inhibition	Clcn1^em1(IMPC)Mbp	HOM	Early adult	4.43×10^-10
decreased startle reflex	Clcn1^em1(IMPC)Mbp	HOM	Early adult	1.69×10^-05
decreased locomotor activity	Clcn1^em1(IMPC)Mbp	HOM	Early adult	1.32×10^-21
decreased exploration in new environment	Clcn1^em1(IMPC)Mbp	HOM	Early adult	1.42×10^-05
abnormal behavior	Clcn1^em1(IMPC)Mbp	HOM	Early adult	5.46×10^-10
decreased thigmotaxis	Clcn1^em1(IMPC)Mbp	HOM	Early adult	2.43×10^-10
decreased monocyte cell number	Clcn1^em1(IMPC)Mbp	HOM	Early adult	1.71×10^-09
abnormal eye morphology	Clcn1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased grip strength	Clcn1^em1(IMPC)Mbp	HOM	Early adult	1.92×10^-21
decreased mean platelet volume	Clcn1^em1(IMPC)Mbp	HOM	Early adult	1.23×10^-05
abnormal gait	Clcn1^em1(IMPC)Mbp	HOM	Early adult	3.59×10^-20
decreased leukocyte cell number	Clcn1^em1(IMPC)Mbp	HOM	Early adult	5.04×10^-05
abnormal auditory brainstem response	Clcn1^em1(IMPC)Mbp	HOM	Early adult	2.88×10^-06
decreased body length	Clcn1^em1(IMPC)Mbp	HOM	Early adult	0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Clcn1 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 Clcn1 (3 diseases)
Human diseases predicted to be associated with Clcn1 (2199 diseases)

The table below shows human diseases associated to Clcn1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Myotonia Congenita, Autosomal Dominant	Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic...	OMIM:160800
Thomsen And Becker Disease	Myotonia	ORPHA:614
Myotonia Congenita, Autosomal Recessive	Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs	OMIM:255700

The table below shows human diseases predicted to be associated to Clcn1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Atonic-Astatic Syndrome Of Foerster	Ataxia, Inability to walk, Hypotonia, Abasia, Generalized hypotonia	OMIM:209100
Spastic Paraplegia 34, X-Linked	Impaired vibratory sensation, Clonus, Babinski sign, Spastic paraplegia, Paraplegia, Spastic gait	OMIM:300750
Spastic Paraplegia 61, Autosomal Recessive	Inability to walk, Spasticity, Spastic paraplegia, Scissor gait	OMIM:615685
Spastic Paraplegia 24, Autosomal Recessive	Spasticity, Spastic paraplegia, Clonus, Tip-toe gait	OMIM:607584
Neuhauser-Eichner-Opitz Syndrome	Ataxia, Rigidity, Hypotonia, Hypertonia, Spasticity	ORPHA:2672
Spinal Arachnoiditis	Spastic paraparesis	OMIM:182950
Normokalemic Periodic Paralysis	Percussion myotonia, Periodic paralysis	OMIM:170600
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Spastic Paraplegia 72, Autosomal Recessive	Ataxia, Spastic paraplegia, Impaired vibration sensation in the lower limbs, Babinski sign, Hoffm...	OMIM:615625
Early-Onset Generalized Limb-Onset Dystonia	Hypertonia, Gait disturbance	ORPHA:256
Dystonia 15, Myoclonic	Myoclonus, Writer's cramp, Dystonia	OMIM:607488
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Ataxia-Oculomotor Apraxia Type 1	Ataxia, Gait disturbance	ORPHA:1168
Paramyotonia Congenita Of Von Eulenburg	Handgrip myotonia, Myotonia of the upper limb, Myotonia, Myotonia of the face, Cold-sensitive myo...	ORPHA:684
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Myotonia Congenita, Autosomal Dominant	Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic...	OMIM:160800
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Dystonia 6, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ...	OMIM:602629
Spinocerebellar Ataxia, X-Linked 2	Ataxia, Abnormality of extrapyramidal motor function	OMIM:302600
Autosomal Recessive Spastic Paraplegia Type 43	Impaired vibratory sensation, Babinski sign, Poor fine motor coordination, Generalized hypotonia,...	ORPHA:320370
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Myoclonus-Dystonia Syndrome	Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus	ORPHA:36899
Posterior Column Ataxia	Impaired vibratory sensation, Ataxia, Impaired proprioception	OMIM:176250
Developmental Delay With Dysmorphic Facies And Dental Anomalies	Spasticity, Ataxia, Hypotonia	OMIM:619228
Episodic Ataxia Type 5	Ataxia, Truncal ataxia	ORPHA:211067
Charcot-Marie-Tooth Disease Type 2B1	Hand muscle atrophy, Peroneal muscle atrophy, Hand muscle weakness, Axonal degeneration, Axonal l...	ORPHA:98856
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Hand muscle atrophy, Handgrip myotonia, Thoracic scoliosis, Myotonia, Writer's cramp, Peroneal mu...	ORPHA:324442
Autosomal Recessive Spastic Paraplegia Type 24	Clonus, Spastic paraplegia, Scissor gait, Tip-toe gait, Spasticity	ORPHA:101004
Spastic Ataxia With Congenital Miosis	Spastic ataxia, Hemiplegia/hemiparesis, Ataxia	ORPHA:1182
X-Linked Complicated Spastic Paraplegia Type 1	Spastic paraplegia, Ataxia, Upper motor neuron dysfunction	ORPHA:306617
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Inability to walk, Appendicular hypotonia, Ataxia, Hypotonia	OMIM:619333
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,...	ORPHA:423275
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus	OMIM:611092
Rippling Muscle Disease 1	Percussion-induced rapid rolling muscle contractions, Muscle mounding	OMIM:600332
Alpers-Huttenlocher Syndrome	Ataxia, Paraparesis, Hypotonia, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic parap...	ORPHA:726
Spastic Paraparesis-Deafness Syndrome	Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Spastic paraparesis	ORPHA:2815
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Oocyte/Zygote/Embryo Maturation Arrest 16	Infertility	OMIM:617234
Isolated Cerebellar Agenesis	Hypertonia, Ataxia, Hypotonia	ORPHA:1398
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski...	ORPHA:101010
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Thomsen And Becker Disease	Myotonia	ORPHA:614
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Axonal degeneration, Distal sensory impairment, Upper limb muscle weakness, Steppage gait, Gait d...	OMIM:616155
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Peripheral axonal degeneration, Axonal degeneration/regeneration, Impaired distal vibration sensa...	OMIM:614436
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Myotonia	OMIM:170500
Hydrocephaly-Cerebellar Agenesis Syndrome	Ataxia, Hypotonia	ORPHA:1397
Geniospasm 1	Chin myoclonus	OMIM:190100
Myoclonus, Familial, 2	Limb myoclonus	OMIM:618364
Epilepsy, Familial Adult Myoclonic, 6	Myoclonic tremor	OMIM:618074
Hemifacial Spasm, Familial	Hemifacial spasm	OMIM:141405
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy...	ORPHA:98810
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Cerebellar Ataxia, Cayman Type	Broad-based gait, Hypotonia, Gait ataxia, Truncal ataxia, Intention tremor	OMIM:601238
Progressive Myoclonic Epilepsy Type 1	Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor	ORPHA:308
3-Methylglutaconic Aciduria Type 3	Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis	ORPHA:67047
Ataxia-Deafness-Retardation Syndrome	Ataxia	OMIM:208850
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Generalized hypotonia, Truncal ataxia, Nonprogressive cerebellar a...	ORPHA:94122
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Rigidity, Tremor, Paraparesis, Hypotonia, Hypertonia, Myoclonus, I...	OMIM:612736
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Myotonia Congenita, Autosomal Recessive	Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs	OMIM:255700
Charcot-Marie-Tooth Disease, Type 4A	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Kyphoscol...	OMIM:214400
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Proximal Myotonic Myopathy	Myotonia	ORPHA:606
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Brody Disease	Somatic sensory dysfunction, Myotonia, Flexion contracture, Percussion myotonia, Skeletal muscle ...	OMIM:601003
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe...	OMIM:618138
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Myotonia, Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hyp...	ORPHA:209335
Maple Syrup Urine Disease	Hemiplegia/hemiparesis, Ataxia, Hypotonia	ORPHA:511
Myelopathy, Htlv-1-Associated	Abnormal pyramidal sign, Spastic paraparesis	OMIM:159580
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb amyotrophy, Failure to thrive in infancy, Decreased number of large peripheral ...	ORPHA:90103
Mitochondrial Complex Iv Deficiency, Nuclear Type 17	Ataxia, Spastic tetraparesis	OMIM:619061
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Zebra Body Myopathy	Waddling gait, Handgrip myotonia, Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber ne...	ORPHA:97240
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Myotonia, Decreased cervical spine flexion due to contractures of posterior cervical m...	ORPHA:98855
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Mitochondrial Dna Depletion Syndrome 18	Hand muscle atrophy, Axonal degeneration, Distal amyotrophy, Falls, Scoliosis, Weakness of facial...	OMIM:618811
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paralysis	OMIM:608634
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor	ORPHA:2589
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Distal lower limb amyotrophy, Peripheral axonal degeneration, Cerebellar atrophy, Decreased numbe...	OMIM:302800
Spermatogenic Failure 12	Azoospermia, Infertility	OMIM:615413
Spastic Ataxia 4, Autosomal Recessive	Spastic ataxia, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia, Upper limb hypert...	OMIM:613672
Spinocerebellar Ataxia Type 23	Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax...	ORPHA:101108
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Ataxia, Tremor, Decreased number of...	OMIM:208920
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Waddling gait, Broad-based gait, Lumbar hyperlordosis, Scapular winging, Calf muscle pseudohypert...	ORPHA:353
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu...	OMIM:614561
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Autosomal Recessive Spastic Paraplegia Type 27	Babinski sign, Spastic paraplegia, Dysdiadochokinesis, Impaired vibration sensation at ankles	ORPHA:101007
Myoclonus, Cerebellar Ataxia, And Deafness	Ataxia, Myoclonus	OMIM:159800
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Myotonia, Short neck, Decreased cervical spine flexion due to contractures of posterio...	ORPHA:98863
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Epilepsy, Familial Adult Myoclonic, 7	Myoclonic tremor	OMIM:618075
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ...	OMIM:617087
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Spinocerebellar Ataxia, X-Linked 5	Neonatal hypotonia, Ataxia, Action tremor	OMIM:300703
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Myotonia	OMIM:254950
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Emery-Dreifuss Muscular Dystrophy	Back pain, Myotonia, Decreased cervical spine flexion due to contractures of posterior cervical m...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Myotonia, Decreased cervical spine flexion due to contractures of posterior cervical m...	ORPHA:98853
Episodic Ataxia Type 1	Cerebellar atrophy, Myotonia, Kyphoscoliosis, Choreoathetosis, Calf muscle hypertrophy, Tip-toe g...	ORPHA:37612
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance	ORPHA:99014
Hypokalemic Periodic Paralysis, Type 1	Myotonia, Periodic paralysis	OMIM:170400
Dentatorubral-Pallidoluysian Atrophy	Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia	OMIM:125370
Paramyotonia Congenita	Percussion myotonia, Handgrip myotonia, Paradoxical myotonia	OMIM:168300
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe...	OMIM:601596
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Myotonia, Ataxia, Postural tremor, Head titu...	OMIM:615491
Dystonia 23	Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia	OMIM:614860
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar...	ORPHA:2722
Spastic Paraplegia 48, Autosomal Recessive	Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Tip...	OMIM:613647
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Phosphoserine Phosphatase Deficiency	Postnatal growth retardation, Intrauterine growth retardation, Hypertonia	OMIM:614023
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Myotonia, Flexion contracture, Proximal muscle weakness in lower limbs, ...	OMIM:310440
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Unsteady gait, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, ...	ORPHA:95434
Parkinsonism-Dystonia 1, Infantile-Onset	Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign...	OMIM:613135
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Rigidity, Tremor, Paraparesis, Spastic paraplegia, B...	OMIM:606693
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Paraparesis, Steppage gait, Distal sensory impairment	OMIM:302802
Spinocerebellar Ataxia 41	Unsteady gait, Ataxia, Gait ataxia	OMIM:616410
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Hypogonadotropic hypogonadism, Ataxia, Acute rhabdomyolysis, Kyph...	OMIM:604168
Infantile Spasms Syndrome	Myoclonus	ORPHA:3451
Mast Syndrome	Incoordination, Spastic paraplegia, Babinski sign, Athetosis, Dysdiadochokinesis, Hypertonia, Gai...	OMIM:248900
Spinocerebellar Ataxia, Autosomal Recessive 6	Ataxia, Hypotonia, Dysmetria, Gait ataxia, Clumsiness, Generalized hypotonia, Spasticity, Intenti...	OMIM:608029
Episodic Ataxia, Type 8	Episodic ataxia, Slurred speech, Ataxia, Intention tremor	OMIM:616055
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Loss of ambulation	OMIM:617917
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Myoclonus	OMIM:217200
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Progressiv...	ORPHA:284332
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Proxima...	OMIM:604484
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Sandhoff Disease, Adult Form	Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Upp...	ORPHA:254343
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Episodic Kinesigenic Dyskinesia 2	Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia	OMIM:611031
Myotonia With Skeletal Abnormalities And Mental Retardation	Myotonia, Kyphoscoliosis, Vertebral wedging, Skeletal muscle hypertrophy, Firm muscles	OMIM:255710
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy	OMIM:311050
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, Gait apraxia, Dysmetr...	OMIM:615157
Muscular Dystrophy, Barnes Type	Myotonia	OMIM:158800
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par...	ORPHA:216873
Spinocerebellar Ataxia 35	Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul...	OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive 22	Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,...	OMIM:616948
Richieri Costa-Da Silva Syndrome	Handgrip myotonia, Myotonia of the upper limb, Decreased muscle mass, Diastasis recti, Kyphoscoli...	ORPHA:3101
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Inability to walk, Kyphosis, Gait disturbance, Scoliosis, Joint contract...	OMIM:611225
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Axial hypotonia, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Par...	OMIM:607483
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Myoclonus	OMIM:604827
Myotonia Fluctuans	Handgrip myotonia, Myotonia of the upper limb, Myotonia of the lower limb, Cold-sensitive myotoni...	ORPHA:99734
Hypokalemic Periodic Paralysis	Periodic hypokalemic paresis, Myotonia, Respiratory paralysis, Paralysis	ORPHA:681
Charcot-Marie-Tooth Disease, Axonal, Type 2X	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Peripheral axonal neuropat...	OMIM:616668
Rippling Muscle Disease 2	Percussion-induced rapid rolling muscle contractions, Muscle mounding	OMIM:606072
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Hereditary Geniospasm	Chin myoclonus, Intention tremor	ORPHA:53372
Spinocerebellar Ataxia, Autosomal Recessive 25	Babinski sign, Ataxia, Dysmetria, Truncal ataxia	OMIM:617584
Polymyoclonus, Infantile	Ataxia, Myoclonus	OMIM:263550
Myotonia Permanens	Myotonia, Hyperlordosis, Generalized muscle hypertrophy, Skeletal muscle hypertrophy, Gait distur...	ORPHA:99735
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Succinic Semialdehyde Dehydrogenase Deficiency	Ataxia, Hypotonia	ORPHA:22
Myotonia, Potassium-Aggravated	Percussion myotonia, Handgrip myotonia, Myotonia	OMIM:608390
X-Linked Non Progressive Cerebellar Ataxia	Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T...	ORPHA:314978
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Tremor, Impaired distal vibration sensation, Ragged-red ...	ORPHA:276435
Spinal Muscular Atrophy, Jokela Type	Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ...	OMIM:615048
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia...	ORPHA:363710
Dystonia 26, Myoclonic	Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia	OMIM:616398
Epilepsy, Progressive Myoclonic, 11	Rigidity, Ataxia, Myoclonus, Intention tremor	OMIM:618876
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Distal upper lim...	ORPHA:101075
Autosomal Dominant Striatal Neurodegeneration	Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance	ORPHA:228169
Episodic Ataxia, Type 2	Myotonia, Progressive cerebellar ataxia, Paresthesia, Dystonia, Episodic ataxia	OMIM:108500
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration, Craniofacial dystonia...	OMIM:620011
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Benign Adult Familial Myoclonic Epilepsy	Myoclonus, Hand tremor	ORPHA:86814
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Kyphosc...	OMIM:605588
Acetazolamide-Responsive Myotonia	Skeletal muscle hypertrophy, Myotonia, Gait disturbance	ORPHA:99736
Developmental And Epileptic Encephalopathy 37	Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M...	OMIM:616981
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Paraparetic Variant Of Guillain-Barré Syndrome	Paraparesis, Impaired distal proprioception	ORPHA:231445
Tremor Of Intention, Ataxia, And Lipofuscinosis	Ataxia, Intention tremor	OMIM:190200
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Ataxia, Generalized hypotonia	ORPHA:404493
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Spastic Paraplegia 70, Autosomal Recessive	Skeletal muscle atrophy, Somatic sensory dysfunction, Achilles tendon contracture, Growth delay, ...	OMIM:620323
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia...	OMIM:617854
Epilepsy, Progressive Myoclonic, 8	Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls, Truncal ataxia, Action myoclonus	OMIM:616230
Restless Legs Syndrome, Susceptibility To, 1	Myoclonus	OMIM:102300
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Ataxia, Myoclonus	OMIM:208700
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Developmental And Epileptic Encephalopathy 11	Hyperkinetic movements, Spastic tetraplegia	OMIM:613721
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Autosomal Recessive Spastic Paraplegia Type 25	Paraparesis, Spastic paraplegia	ORPHA:101005
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Glut1 Deficiency Syndrome 1	Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity	OMIM:606777
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Kyphosis, Axonal degeneration, Impaired vibration sensation in the lo...	ORPHA:88628
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Abnormal heart morphology, Clumsiness, Dementia, Abnorma...	ORPHA:79262
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Decreased muscle mass, ...	OMIM:615490
Amyotrophic Lateral Sclerosis 4, Juvenile	Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler...	OMIM:602433
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Alternating Hemiplegia Of Childhood 2	Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Hemiplegia	OMIM:614820
Spinocerebellar Ataxia, X-Linked 1	Ataxia, Unsteady gait, Hypotonia, Intention tremor, Abnormality of extrapyramidal motor function,...	OMIM:302500
Spastic Paraplegia 75, Autosomal Recessive	Impaired distal vibration sensation, Abnormal pyramidal sign, Hypotonia, Dysmetria, Babinski sign...	OMIM:616680
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Skeletal muscle atrophy, Impaired distal proprioception, Hand mus...	ORPHA:101097
Porphyria, Acute Hepatic	Respiratory paralysis, Paralysis	OMIM:612740
Frontotemporal Dementia With Motor Neuron Disease	Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Progres...	ORPHA:275872
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Writer's cramp, Hand tremor, Myoclonus	OMIM:608105
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity	OMIM:611105
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Myotonia	ORPHA:371
Spastic Paraplegia 30, Autosomal Dominant	Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Ankle clonus, Spasti...	OMIM:610357
Facial Onset Sensory And Motor Neuronopathy	Fasciculations	ORPHA:85162
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
X-Linked Charcot-Marie-Tooth Disease Type 4	Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Sco...	ORPHA:101078
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Peripheral axonal neuropathy, Premature ovarian insufficiency, Ataxia, Impaired pain sensation, K...	OMIM:618124
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Myofibrillar Myopathy 10	Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Percuss...	OMIM:619040
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Abnormal posturin...	OMIM:619565
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus	OMIM:615400
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Striatal Degeneration, Autosomal Dominant 1	Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance	OMIM:609161
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Ceroid Lipofuscinosis, Neuronal, 8	Loss of ambulation, Ataxia, Myoclonus	OMIM:600143
Neurodegeneration With Brain Iron Accumulation 6	Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Dystonia, Oromandibu...	OMIM:615643
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Hereditary Neuropathy With Liability To Pressure Palsies	Vocal cord paralysis	ORPHA:640
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Peripheral axonal neuropathy, Ataxia, Kyphoscoliosis, Tremor, Distal amyotrophy	OMIM:619099
Spinocerebellar Ataxia, Autosomal Recessive 17	Broad-based gait, Ataxia, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Clumsiness, Truncal a...	OMIM:616127
Spinocerebellar Ataxia 11	Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia	OMIM:604432
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Neuropathic spinal arthropathy, Proximal muscle weakness in upper limbs, Peripheral axonal degene...	OMIM:607706
Spinocerebellar Ataxia 37	Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls	OMIM:615945
Spinocerebellar Ataxia Type 26	Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa...	ORPHA:101112
Developmental And Epileptic Encephalopathy 69	Spastic tetraplegia, Hyperkinetic movements, Myoclonus, Dystonia	OMIM:618285
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Dystonia 12	Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dysphagia, ...	OMIM:128235
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Tetraplegia/tetraparesis, Progressive spastic paraparesis, Babinski sign, Ankle clonus, Progressi...	ORPHA:506353
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi...	OMIM:500003
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, Inability to walk, Obesi...	OMIM:616756
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Unsteady gait, Slurred speech, Truncal ataxia, Dysmetria, Gait ataxia, Clumsiness, Babinski sign,...	ORPHA:453521
Dystonia 9	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia	OMIM:601042
Autosomal Dominant Spastic Paraplegia Type 73	Lower limb spasticity, Progressive spastic paraparesis, Babinski sign, Impaired vibration sensati...	ORPHA:444099
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Babinski sign, Spastic paraplegia, Limb fasciculations, Gait disturbance, Tongue fasciculations, ...	ORPHA:329475
Combined Saposin Deficiency	Babinski sign, Myoclonus, Fasciculations, Hyperkinetic movements	OMIM:611721
Late-Infantile/Juvenile Krabbe Disease	Tremor, Neuromuscular dysphagia, EEG with persistent abnormal rhythmic activity, Loss of ambulati...	ORPHA:206443
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Axial hypotonia, Ataxia, Inability to walk, Athetosis, Abnormality of extrapyramidal motor functi...	OMIM:615159
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Skeletal muscle atrophy, Myotonia, Cerebral palsy, Flexion contr...	ORPHA:682
Spinocerebellar Ataxia, Autosomal Recessive 10	Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal ataxia, Intention tremor	OMIM:613728
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata...	ORPHA:53583
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Tremor, Abnormal pyramidal sign, Prelingual sensorineural he...	ORPHA:52368
Intellectual Developmental Disorder, Autosomal Recessive 48	Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Emotional ...	OMIM:616269
Spastic Paraplegia 76, Autosomal Recessive	Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, Gait ataxia, Distal ...	OMIM:616907
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia	OMIM:617018
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Parkinsonism, Paraparesis, Tetraparesis, Extrapyramidal dyskinesia, Apraxia	OMIM:105550
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Epilepsy, Progressive Myoclonic, 12	Difficulty walking, Ataxia, Myoclonus, Dysmetria	OMIM:619191
Migraine, Familial Hemiplegic, 1	Ataxia, Confusion, Tremor, Hemiparesis, Agitation, Hemiplegia	OMIM:141500
Corticobasal Syndrome	Limb dystonia, Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromoto...	ORPHA:454887
Vitamin B12-Unresponsive Methylmalonic Acidemia	Ataxia, Paraparesis, Hypotonia, Choreoathetosis, Tetraparesis	ORPHA:27
Epilepsy, Familial Adult Myoclonic, 3	Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty...	OMIM:613608
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Confusion, Tremor, Babinski sign, Gait ataxia, Depression, Dementia, Abnormality of extra...	OMIM:615362
Parkinson Disease 22, Autosomal Dominant	Restless legs, Resting tremor, Orthostatic hypotension, Rigidity, Depression, Bradykinesia, Demen...	OMIM:616710
Roussy-Lévy Syndrome	Impaired vibratory sensation, Skeletal muscle atrophy, Somatic sensory dysfunction, Postural trem...	ORPHA:3115
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a...	OMIM:600175
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Small for gestational age, Spinal muscular atrophy, Camptodactyly...	OMIM:604320
Peroxisome Biogenesis Disorder 8B	Lower limb spasticity, Ataxia, Clonus, Rigidity, Dysesthesia, Unsteady gait, Babinski sign, Limb ...	OMIM:614877
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Roussy-Levy Hereditary Areflexic Dystasia	Decreased number of peripheral myelinated nerve fibers, Upper limb postural tremor, Kyphoscoliosi...	OMIM:180800
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasticity	OMIM:615924
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ...	ORPHA:98811
Schwartz-Jampel Syndrome, Type 1	Waddling gait, Skeletal muscle atrophy, Hip contracture, Lumbar hyperlordosis, Cervical kyphosis,...	OMIM:255800
Stxbp1-Related Encephalopathy	Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Spastic t...	ORPHA:599373
Spastic Paraplegia, Ataxia, And Mental Retardation	Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensation in the lower limb...	OMIM:607565
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo...	ORPHA:314632
Spinocerebellar Ataxia 13	Impaired distal vibration sensation, Abnormal pyramidal sign, Hypotonia, Limb ataxia, Gait ataxia...	OMIM:605259
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis	ORPHA:140989
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Hip contracture, Broad-based gait, Scapular winging, Spinal muscular atrophy, Hype...	OMIM:615290
Spinocerebellar Ataxia, Autosomal Recessive 14	Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intention tremor	OMIM:615386
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy...	ORPHA:71277
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Axial hypotonia, Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Generalized hypotonia	OMIM:618501
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyram...	ORPHA:397946
Charcot-Marie-Tooth Disease Type 1A	Skeletal muscle atrophy, Kyphoscoliosis, Sensory ataxia, Distal sensory impairment, Calf muscle h...	ORPHA:101081
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Dystonia 16	Limb dystonia, Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnorm...	OMIM:612067
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Developmental And Epileptic Encephalopathy 92	Ataxia, Inability to walk, Myoclonus, Difficulty walking, Spasticity	OMIM:617829
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto...	OMIM:213600
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Steppage gait...	OMIM:620378
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spastic Paraplegia 10, Autosomal Dominant	Lower limb spasticity, Ataxia, Parkinsonism, Spastic paraplegia, Impaired vibration sensation in ...	OMIM:604187
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng...	OMIM:617284
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia	ORPHA:324588
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia	OMIM:619561
X-Linked Charcot-Marie-Tooth Disease Type 3	Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa...	ORPHA:101077
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Gait disturbance, Fasciculations	OMIM:608030
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Spinal muscular atrophy, Lower limb muscle weakness, Fasciculations, Weakness of the intrinsic ha...	OMIM:615575
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Hearing impairment, Gait ataxia	ORPHA:217012
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare...	ORPHA:43
Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Limb ataxia, Ge...	OMIM:213200
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Myoclonus, Dystonia	OMIM:619651
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:619733
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Spastic Paraplegia 46, Autosomal Recessive	Impaired vibratory sensation, Cerebellar atrophy, Lower limb muscle weakness, Kyphosis, Impaired ...	OMIM:614409
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Ataxia, Babinski sign, Hypotonia, Dysmetria, Choreoathetosis, Positive Romberg sign, Dystonia, Lo...	OMIM:618088
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F	Distal lower limb amyotrophy, Impaired temperature sensation, Impaired pain sensation, Upper limb...	ORPHA:99940
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Hypertrophic cardiomyopathy, H...	OMIM:620270
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis	ORPHA:1008
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, E...	OMIM:612126
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Idiopathic Camptocormia	Myositis, Myotonia, Abnormal intervertebral disk morphology, Amyotrophic lateral sclerosis, Fatty...	ORPHA:1320
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Dystonia, Oculomotor apraxia, S...	OMIM:614487
Adrenoleukodystrophy	Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Truncal ataxia, Imp...	OMIM:300100
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Vocal cord paralysis	OMIM:607641
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus	ORPHA:98763
Spinocerebellar Ataxia Type 28	Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Depres...	ORPHA:101109
Congenital Myopathy 23	Waddling gait, Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Fa...	OMIM:609285
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Salla Disease	Ataxia, Inability to walk, Hypotonia, Athetosis, Generalized hypotonia, Spasticity	OMIM:604369
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Spinal Muscular Atrophy, Type Iii	Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Distal amyotrophy, Limb fascicula...	OMIM:253400
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac...	OMIM:619279
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Mental dete...	ORPHA:240085
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Parkinsonism, Paralysis	OMIM:105500
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Palatal tremor, Truncal ataxia, Spastic paraparesis	OMIM:113610
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Distal lower limb amyotrophy, Claw hand deformity, Upper limb amyotrophy, Distal sensory impairme...	OMIM:606595
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Trichothiodystrophy 9, Nonphotosensitive	Ataxia, Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding	OMIM:619692
Valinemia	Hyperkinetic movements	OMIM:277100
Spinocerebellar Ataxia, Autosomal Recessive 18	Incoordination, Ataxia, Babinski sign, Hypotonia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Tru...	OMIM:616204
Epilepsy, Familial Adult Myoclonic, 1	Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,...	OMIM:601068
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Choreoathetosis, Limb hypertonia, Myoclonus, Dysto...	OMIM:606703
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S...	OMIM:619566
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Tremor, Splenomegaly, Rigidity, Irritability, Dystonia, Loss of ambulation, Thr...	OMIM:615010
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility, Ataxia	OMIM:613909
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Peripheral axonal neuropathy, Dystonia, Abnormal anterior horn cell morp...	OMIM:611890
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Cerebellar atrophy, Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, H...	OMIM:606612
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Charcot-Marie-Tooth Disease, Type 4K	Skeletal muscle atrophy, Ataxia, Kyphoscoliosis, Axonal loss, Difficulty walking, Dystonia, Perip...	OMIM:616684
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Myoc...	OMIM:607346
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Inability to walk, Kyphosis, Flexion contracture...	OMIM:609541
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia,...	ORPHA:13
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 17	Male infertility	OMIM:617214
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Ataxia, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus	OMIM:162350
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Spinal rigidity, Hyperlordosis, Kyphosis, Proximal amyotrophy, Tip-toe gait, Gait disturbance, Sc...	OMIM:617404
Rapid-Onset Dystonia-Parkinsonism	Limb dystonia, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Depression, ...	ORPHA:71517
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Tremor, Babinski sign, Optic atrophy, Steppage gait, H...	OMIM:609260
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ...	ORPHA:251282
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Parkinsonism, Anorexia, A...	ORPHA:3077
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Impaired vibratory sensation, Clonus, Spastic paraplegia, Abnormal pyramidal sign, Spastic dipleg...	OMIM:238970
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Kyphoscoliosis, Myotonia, Premature ovarian insufficiency, Scoliosis	ORPHA:391307
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal at...	OMIM:615768
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Spinocerebellar Ataxia Type 38	Tremor, Difficulty walking, Gait ataxia	ORPHA:423296
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Spinocerebellar Ataxia 44	Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls	OMIM:617691
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased number of peripheral myelinated nerve fibers, Kyphoscoliosis, Segmental peripheral demy...	OMIM:118220
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia	ORPHA:284271
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki...	OMIM:604326
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, High-frequency sensorineural hearing impairment, Tremor, Inability to walk, Sensor...	ORPHA:2590
Hsd10 Disease	Ataxia, Rigidity, Tremor, Choreoathetosis, Gait disturbance, Myoclonus, Infantile muscular hypoto...	ORPHA:391417
Autosomal Recessive Spastic Paraplegia Type 48	Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressi...	ORPHA:306511
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Epilepsy, Progressive Myoclonic, 6	Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation	OMIM:614018
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Spinocerebellar Ataxia 48	Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression...	OMIM:618093
Aredyld	Generalized hypotrichosis	OMIM:207780
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor	OMIM:619738
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Paralysis	OMIM:613710
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Acute rhabdomyolysis, Camptodactyly of finger, Hypogonadotropic hypogonadism, Kyphosis, D...	ORPHA:48431
X-Linked Spinocerebellar Ataxia Type 3	Ataxia, Hypotonia	ORPHA:85297
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Incoordination, Ataxia, Impaired distal proprioception, Babinski sign, Abnormal pyramidal sign, I...	OMIM:616688
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/...	ORPHA:1818
Encephalopathy Due To Prosaposin Deficiency	Myoclonus, Dystonia	ORPHA:139406
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Developmental And Epileptic Encephalopathy 40	Spastic tetraparesis, Choreoathetosis, Myoclonus, Intrauterine growth retardation, Spasticity	OMIM:617065
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis, Increased v...	OMIM:300718
Ravine Syndrome	Abnormal auditory evoked potentials, Spasticity, Ataxia, Anorexia	ORPHA:99852
Ceroid Lipofuscinosis, Neuronal, 5	Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Loss of ambulation	OMIM:256731
Creutzfeldt-Jakob Disease	Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia	OMIM:123400
Myotonic Dystrophy 2	Handgrip myotonia, Myotonia, Oligozoospermia, Hypogonadism, Generalized amyotrophy, Weakness of f...	OMIM:602668
Epilepsy, Progressive Myoclonic, 9	Action myoclonus, Frequent falls, Myoclonus, Gait ataxia	OMIM:616540
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Ataxia, Fine hair	ORPHA:1174
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Infantile Neuronal Ceroid Lipofuscinosis	Interictal EEG abnormality, Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsines...	ORPHA:79263
Spastic Tetraplegia And Axial Hypotonia, Progressive	Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetraparesis, Babinski sign,...	OMIM:618598
Spinocerebellar Ataxia 29	Broad-based gait, Truncal titubation, Hypotonia, Dysmetria, Impaired tandem gait, Gait ataxia, Li...	OMIM:117360
Spinal Muscular Atrophy, Ryukyuan Type	Fasciculations	OMIM:271200
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Diffuse cerebral atrophy, Dystonia, Ataxia, Kyphosis, Platyspondyly, Sco...	OMIM:230650
Xeroderma Pigmentosum, Complementation Group G	Tremor, Microphthalmia, Spasticity, Ataxia	OMIM:278780
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Variegate Porphyria	Paralysis	OMIM:176200
Urocanic Aciduria	Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor	ORPHA:210128
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,...	OMIM:617145
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Paralysis	OMIM:300857
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Short stature, Babinski sign, Spastic diplegia, Myoclonus	OMIM:619065
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Myoclonus, Eyelid myoclonus	OMIM:618357
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased number of peripheral myelinated nerve fibers, Kyphoscoliosis, Distal sensory impairment...	OMIM:118200
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Kyphosis, Impaired proprioception, Upper limb hypertonia, Limb dyst...	ORPHA:319199
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Kyphoscoliosis, Segment...	OMIM:145900
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Failure to thrive, Ataxia, Facial myokymia	OMIM:620007
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Peripheral axonal neuropathy, Kyphosis, Optic atrophy, Limb ataxia, Gait atax...	OMIM:610743
Myopathy, X-Linked, With Postural Muscle Atrophy	Back pain, Skeletal muscle atrophy, Scapular winging, Spinal rigidity, Short neck, Achilles tendo...	OMIM:300696
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Sensorineural hearing impairment, Giant platelets, Macrothrombocytope...	OMIM:155100
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Developmental And Epileptic Encephalopathy 82	Neonatal hypotonia, Inability to walk, Spastic tetraplegia, Spastic paraparesis	OMIM:618721
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B...	ORPHA:240103
Myotonic Dystrophy 1	Myotonia, Cerebral atrophy, Facial diplegia, Hypogonadism, Testicular atrophy	OMIM:160900
Huntington Disease-Like 2	Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Dementia, Dystoni...	OMIM:606438
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased...	ORPHA:206594
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Coasy Protein-Associated Neurodegeneration	Oromandibular dystonia, Parkinsonism, Difficulty walking, Spastic paraparesis	ORPHA:397725
Baker-Gordon Syndrome	Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic movements, Atheto...	OMIM:618218
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Hypergonadotropic hypogonadism, Centrally nu...	OMIM:248800
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti	OMIM:607903
Coenzyme Q10 Deficiency, Primary, 9	Short attention span, Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tan...	OMIM:619028
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Spinocerebellar Ataxia 50	Ataxia, Postural tremor, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor	OMIM:620158
Congenital-Onset Steinert Myotonic Dystrophy	Myotonia, Facial hypotonia, Obesity, Scoliosis, Decreased body weight	ORPHA:589821
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Spasticity, Ataxia, Myoclonus	OMIM:545000
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Mitochondrial Membrane Protein-Associated Neurodegeneration	Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Gait disturbance, Shuffling gai...	ORPHA:289560
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonus, Dystonia, Oculomotor apraxi...	ORPHA:313772
Cln5 Disease	Hyperactivity, Abnormal central motor function, Ataxia, EEG with spike-wave complexes, Aggressive...	ORPHA:228360
Spinocerebellar Ataxia 5	Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Hypotonia, Dysmetria, Gai...	OMIM:600224
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Loss of ambulation, Tongue fasciculations, Fasciculations	OMIM:613435
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration	OMIM:162100
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Iron deficiency anemia, Neutropenia, Progressive sensorineural he...	ORPHA:494444
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Hypogonadism, Gait disturbance, Congenital muscular dystrophy, Decreased testicular size	ORPHA:1875
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Congenital Muscular Dystrophy With Intellectual Disability	Neuropathic spinal arthropathy, Hypoglycosylation of alpha-dystroglycan, Multiple joint contractu...	ORPHA:370968
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Spastic Paraplegia 78, Autosomal Recessive	Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski sign, Abnormal pyramidal sign...	OMIM:617225
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Parastremmatic Dwarfism	Kyphosis, Flexion contracture, Scoliosis, Short neck	OMIM:168400
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia	OMIM:605909
Spinocerebellar Ataxia Type 2	Kinetic tremor, Postural tremor, Parkinsonism, Chorea, Gait ataxia, Progressive cerebellar ataxia...	ORPHA:98756
Developmental And Epileptic Encephalopathy 56	EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, EEG abnormality, ...	OMIM:617665
Spinocerebellar Ataxia Type 27	Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait di...	ORPHA:98764
Primary Lateral Sclerosis	Somatic sensory dysfunction, Weakness due to upper motor neuron dysfunction, Progressive spastic ...	ORPHA:35689
Progressive Myoclonic Epilepsy With Dystonia	Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Dy...	ORPHA:352596
Familial Infantile Bilateral Striatal Necrosis	Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Cogwheel rig...	ORPHA:225154
Dihydropyrimidine Dehydrogenase Deficiency	Hyperactivity, Optic atrophy, Tetraplegia, Hypertonia, Microphthalmia, Lethargy	OMIM:274270
Pelizaeus-Merzbacher Disease, Classic Form	Axial hypotonia, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Hypotonia, Dystonic gait,...	ORPHA:280219
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto...	OMIM:617519
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Mitochondrial Complex I Deficiency, Nuclear Type 12	Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Frequent falls	OMIM:301020
Charcot-Marie-Tooth Disease Type 1B	Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Skeletal musc...	ORPHA:101082
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali...	OMIM:164500
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Nystagmus, Hereditary Vertical	Abnormal vestibulo-ocular reflex, Ataxia	OMIM:164150
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Postural tremor, Oculogyric crisis, Ataxia, Parkinsonism, Rigidity, Babinsk...	ORPHA:101150
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Spinocerebellar Ataxia Type 19/22	Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cogwheel rigidity, Diff...	ORPHA:98772
Neurodegeneration With Brain Iron Accumulation 3	Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcorti...	OMIM:606159
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Optic atrophy...	OMIM:619470
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Joubert Syndrome 25	Oculomotor apraxia, Ataxia, Generalized hypotonia	OMIM:616781
Autosomal Recessive Spastic Paraplegia Type 44	Lower limb spasticity, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairm...	ORPHA:320401
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Decreased fertility, Calf muscle hypertrophy, Fasciculations, Limb muscle weakness, Testi...	OMIM:313200
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At...	ORPHA:99027
Leukodystrophy, Hypomyelinating, 13	Lower limb spasticity, Exaggerated startle response, Prolonged brainstem auditory evoked potentia...	OMIM:616881
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair	ORPHA:401911
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Bradykinesia, Ankle cl...	ORPHA:521406
Foxg1 Syndrome	Short stature, Inability to walk, Choreoathetosis, Severe postnatal growth retardation, Hyperkine...	ORPHA:561854
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy...	ORPHA:240094
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra...	ORPHA:99750
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori...	OMIM:125250
Neurodevelopmental Disorder With Involuntary Movements	Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Dystonia, Spasticity	OMIM:617493
Adrenomyeloneuropathy	Back pain, Peripheral axonal degeneration, Abnormal libido, Atrophy/Degeneration involving the co...	ORPHA:139399
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Developmental And Epileptic Encephalopathy 16	Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Dystonia	OMIM:615338
Developmental And Epileptic Encephalopathy 27	Chorea, Myoclonus, Spasticity, Dystonia	OMIM:616139
Spastic Paraplegia 39, Autosomal Recessive	Babinski sign, Ataxia, Gait disturbance, Progressive spastic paraplegia	OMIM:612020
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Scapuloperoneal Spinal Muscular Atrophy	Broad-based gait, Progressive distal muscular atrophy, Scapular winging, Facial palsy, Torticolli...	OMIM:181405
Ceroid Lipofuscinosis, Neuronal, 2	Ataxia, Myoclonus	OMIM:204500
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha...	OMIM:613102
Inherited Creutzfeldt-Jakob Disease	Tremor, Chorea, EEG with persistent abnormal rhythmic activity, Abnormal pyramidal sign, Gait ata...	ORPHA:282166
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Sparse hair, Widow's peak, Thick eyebrow	OMIM:606242
Ataxia-Telangiectasia-Like Disorder 1	Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Choreoat...	OMIM:604391
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair	OMIM:129490
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Lower limb spasticity, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Babinski...	OMIM:613954
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Tremor, Inability to walk, Fatiguable weakness of proximal limb muscles, Abnormality of the seven...	ORPHA:90117
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co...	OMIM:607876
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Leukodystrophy, Hypomyelinating, 2	Axial hypotonia, Ataxia, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Progressive s...	OMIM:608804
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Spinocerebellar Ataxia Type 36	Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Tongue fasciculations...	ORPHA:276198
Atypical Rett Syndrome	Restrictive behavior, Dystonia, Involuntary movements, Tremor, Inability to walk, Tongue thrustin...	ORPHA:3095
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia	ORPHA:306669
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl...	ORPHA:306692
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Gombo Syndrome	Microphthalmia, Abnormal heart morphology	OMIM:233270
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Kyphosis, Small for gestational age, Decreased body weight	OMIM:618392
Developmental And Epileptic Encephalopathy 1	Dystonia, Spastic tetraparesis, EEG with burst suppression, Abnormal pyramidal sign, Hypsarrhythm...	OMIM:308350
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Optic atrophy, Bradykinesia, Demen...	ORPHA:329284
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Kyphosis, Lower limb hypertonia, Gait disturbance, Upper limb hyper...	OMIM:614898
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Charcot-Marie-Tooth Disease, Type 4B2	Decreased number of peripheral myelinated nerve fibers, Kyphoscoliosis, Segmental peripheral demy...	OMIM:604563
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Ataxia, Abnormal pinna morphology, Aggressive behavior, Tremor, Optic atrophy, Spa...	OMIM:300983
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Myotonia, Short neck, Wrist flexion contracture, Abnormally ossified ver...	ORPHA:800
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Bethlem Myopathy 2	Scapular winging, Kyphosis, Flexion contracture, Myopathy, Scoliosis, Increased variability in mu...	OMIM:616471
Spinocerebellar Ataxia 17	Broad-based gait, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia, Br...	OMIM:607136
Sandhoff Disease	Kyphosis, Failure to thrive, Ataxia	ORPHA:796
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrogloss...	OMIM:607155
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Ataxia, Tremor, Rigidity, Dementia, Gait disturbance, ...	OMIM:603472
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Oculogyric crisis, Chorea, Hyperkinetic movements, Myoclonus, Dystonia, Spasticity	OMIM:614254
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Ataxia, Myoclonus, Abnormality of extrapyramidal motor function	OMIM:204300
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis	OMIM:618323
Neuropathy, Hereditary Motor And Sensory, Russe Type	Paralysis	OMIM:605285
Myoclonic-Astatic Epilepsy	EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Tremor, Uns...	ORPHA:1942
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention...	OMIM:301310
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive	Skeletal muscle atrophy, Fasciculations, Foot dorsiflexor weakness, Distal sensory impairment	OMIM:137200
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Babinski sign, Vestibular areflexia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi...	ORPHA:504476
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Clonus, Spasticity, Myoclonus	OMIM:618201
Isochromosomy Yp	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98797
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Myopathy, Myofibrillar, 2	Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati...	OMIM:608810
Progressive Supranuclear Palsy	Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Depression, Bradykinesia, Blepharospasm, ...	ORPHA:683
Acute Peripheral Arterial Occlusion	Paralysis	ORPHA:90064
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Choreoathetosis, Inability to walk, Hyperkinetic movements, Myoclonus	OMIM:618497
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Hand tremor, Myoclonus, Head tremor, Dystonia	OMIM:619724
Mohr-Tranebjaerg Syndrome	Tremor, Intrinsic hand muscle atrophy, Abnormal posturing, Dystonia, Spasticity	OMIM:304700
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Eyelid myoclonus	OMIM:616421
Perioral Myoclonia With Absences	Falls, Chin myoclonus	ORPHA:139426
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Kyphosis, Flexion contracture, Optic atrophy, Myopathy, Dystonia, Failure to ...	OMIM:618237
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Parkinsonism, Hearing impairment, Action tremor, Dysmetria, Gait...	OMIM:300623
Neuropathy, Hereditary, With Liability To Pressure Palsies	Vocal cord paralysis	OMIM:162500
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy,...	OMIM:128100
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Distal lower limb amyotrophy, Somatic sensory dysfunction, Distal amyotrophy, Fasciculations, Imp...	OMIM:600882
Spermatogenic Failure, X-Linked, 6	Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai...	OMIM:301101
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Spinocerebellar Ataxia With Epilepsy	Progressive neurologic deterioration, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Depression, ...	ORPHA:254881
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Depression...	OMIM:616795
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Juvenile Huntington Disease	Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata...	ORPHA:248111
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta...	OMIM:160150
Lopes-Maciel-Rodan Syndrome	Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Bradykinesia, Ankle clonus, Hy...	OMIM:617435
Lethal Congenital Contracture Syndrome 7	Paralysis	OMIM:616286
Amyotrophic Lateral Sclerosis 18	Spasticity, Fasciculations	OMIM:614808
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair...	OMIM:224750
Cataract-Ataxia-Deafness Syndrome	Ataxia, Tremor, Decreased nerve conduction velocity, Sensorineural hearing impairment, Hypertonia...	ORPHA:1368
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Manganese Poisoning	Dystonia, Postural tremor, Confusion, Akinesia, Aggressive behavior, Hypersexuality, Depression, ...	ORPHA:306682
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Handgrip myotonia, Broad-based gait, Exaggerated startle response, Facial hypotonia, Ataxia, Dyst...	ORPHA:438216
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Abnormality of the musculature of the lower limbs, Ataxia, Dystonia, Delayed perip...	ORPHA:464282
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Unsteady gait, Hypertonia, Myoclonus	OMIM:610090
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development	Postural tremor, Ataxia, Hypotonia, Generalized hypotonia	OMIM:300619
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Cerebral atrophy, Camptodactyly	OMIM:618453
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Ataxia, Parkinsonism, Progressive neurologic deterioration, Tremor, Rigidity, Choreoath...	OMIM:261640
Recessive Mitochondrial Ataxia Syndrome	Impaired vibratory sensation, Ataxia, Dysmetria, Gait disturbance, Positive Romberg sign, General...	ORPHA:94125
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dystonia	OMIM:620358
Congenital Disorder Of Glycosylation, Type In	Spasticity, Ataxia, Myoclonus, Short stature	OMIM:612015
Myh9-Related Disease	Increased mean platelet volume, Sensorineural hearing impairment, Giant platelets, Neutrophil inc...	ORPHA:182050
Spinocerebellar Ataxia Type 17	Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rigidity, Chorea, Abnor...	ORPHA:98759
Hypermanganesemia With Dystonia 1	Parkinsonism, Rigidity, Tremor, Bradykinesia, Poor fine motor coordination, Steppage gait, Abnorm...	OMIM:613280
Pelizaeus-Merzbacher Disease In Female Carriers	Lower limb spasticity, Inability to walk, Babinski sign, Hypotonia, Gait disturbance, Difficulty ...	ORPHA:280229
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ...	OMIM:618484
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Macrotia, Babinski sign, Sp...	OMIM:300055
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Spinocerebellar Ataxia 34	Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Fasciculations, Sp...	OMIM:133190
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia	ORPHA:139485
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Ataxia, Kyphosis, Gait disturbance, Scoliosis	ORPHA:85317
Spastic Paraplegia 20, Autosomal Recessive	Lower limb spasticity, Spastic paraplegia, Babinski sign, Dysmetria, Ankle clonus, Upper limb spa...	OMIM:275900
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Childhood-Onset Spasticity With Hyperglycinemia	Ataxia, Loss of ability to walk in early childhood, Babinski sign, Unsteady gait, Spastic diplegi...	ORPHA:401866
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Hypertonia, Short stature, Limb tremor, Myoclonus	OMIM:300699
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Developmental And Epileptic Encephalopathy 72	Inability to walk, Hyperkinetic movements	OMIM:618374
Hypermanganesemia With Dystonia 2	Generalized dystonia, Dystonia, Parkinsonism, Progressive neurologic deterioration, Tremor, Inabi...	OMIM:617013
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Sparse hair, Alopecia, Long eyelashes, Ataxia	ORPHA:3363
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Facial palsy, Tremor, Dementia, Tongue fasciculations, Difficulty walking, Dysphagia, Myoclonus, ...	OMIM:159950
Adult Krabbe Disease	Somatic sensory dysfunction, Broad-based gait, Ataxia, Progressive spastic paraparesis, Hoffmann ...	ORPHA:206448
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair...	ORPHA:90368
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myoclonus, Head tremor,...	ORPHA:420492
Charcot-Marie-Tooth Disease Type 1F	Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu...	ORPHA:101085
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Progressive spastic quadriplegia, Spa...	ORPHA:2985
Spinocerebellar Ataxia Type 3	Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma...	ORPHA:98757
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Hyperkinetic movements	ORPHA:397933
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, EEG abnormality, Low-set ears,...	OMIM:618718
Oromandibular Dystonia	Torticollis, Generalized dystonia, Blepharospasm, Hyperkinetic movements, Limb dystonia, Lingual ...	ORPHA:93958
Ataxia-Telangiectasia-Like Disorder	Ataxia, Short stature, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Oculomotor ...	ORPHA:251347
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow	ORPHA:79133
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Neurom...	ORPHA:227510
Oliver-Mcfarlane Syndrome	Sparse hair, Alopecia, Long eyelashes, Long eyebrows	OMIM:275400
Myasthenic Syndrome, Congenital, 16	Periodic paralysis	OMIM:614198
Spinocerebellar Ataxia, Autosomal Recessive 32	Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Limb myoclonus	OMIM:619862
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Elbow contracture, Rigidity, Percussion myotonia, Intrauterine growth retardation, Nemaline bodies	OMIM:620275
Trichothiodystrophy 8, Nonphotosensitive	Sparse eyebrow, Head titubation, Babinski sign, Spastic diplegia, Ankle clonus, Sparse hair, Wool...	OMIM:619691
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Clumsiness, Irritabili...	ORPHA:66624
Ataxia-Oculomotor Apraxia Type 4	Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, Kyphoscoliosis, Obesity...	ORPHA:459033
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni...	OMIM:619725
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail	ORPHA:2251
Developmental And Epileptic Encephalopathy 6B	Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus	OMIM:619317
Developmental And Epileptic Encephalopathy 109	Gait ataxia, Crouch gait, Myoclonus, Intrauterine growth retardation, Spasticity	OMIM:620145
Huntington Disease-Like 1	Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia...	ORPHA:157941
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia...	OMIM:169400
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dementia, ...	OMIM:300894
Alexander Disease Type Ii	Ataxia, Rigidity, Palatal tremor, Babinski sign, Spastic paraparesis, Spasticity	ORPHA:363722
Waardenburg Syndrome, Type 4A	Ataxia, Hypotonia, Spastic paraparesis	OMIM:277580
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Progressive neurologic deterioration, Tremor, Sensorineural hearing impairment, Hypertonia, Gait ...	ORPHA:1192
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia	OMIM:617836
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Delirium...	ORPHA:208441
Toxin-Mediated Infectious Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:230800
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairment, Dystonia, Mental...	ORPHA:542310
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Spinocerebellar Ataxia, Autosomal Recessive 7	Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk...	OMIM:609270
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased number of peripheral myelinated nerve fibers, Kyphoscoliosis, Distal sensory impairment...	OMIM:607831
Cdkl5-Deficiency Disorder	Impaired pain sensation, Kyphosis, Gait disturbance, Difficulty walking, Scoliosis	ORPHA:505652
Spinocerebellar Ataxia 6	Incoordination, Ataxia, Abnormal vestibulo-ocular reflex, Slurred speech, Dysmetria, Progressive ...	OMIM:183086
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Fasciculations	OMIM:619141
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Myopathy, Centronuclear, 2	Waddling gait, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle...	OMIM:255200
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Ataxia, Kyphosis, Unsteady gait, Scoliosis	OMIM:300861
Autosomal Recessive Ataxia, Beauce Type	Impaired vibratory sensation, Skeletal muscle atrophy, Cerebellar atrophy, Ataxia, Kyphosis, Atro...	ORPHA:88644
Moynahan Syndrome	Sparse hair, Alopecia	ORPHA:2574
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia	OMIM:614082
Spinocerebellar Ataxia 2	Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Unsteady gait, Dysmetria, Limb at...	OMIM:183090
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks	OMIM:254770
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Spasticity, Aplasia/Hypoplasia of the macula	ORPHA:33445
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair	OMIM:618625
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Kyphoscoliosis, Impaired distal proprioception, Segmental peripheral demyeli...	OMIM:601455
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair	OMIM:618535
Myoclonic Epilepsy Of Unverricht And Lundborg	Ataxia, Myoclonus	OMIM:254800
Focal Facial Dermal Dysplasia 3, Setleis Type	Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes	OMIM:227260
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ataxia, Progressive ...	ORPHA:284289
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Dysphagia, Loss of ambulation	OMIM:617916
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Hyperlordosis, Inability to walk, Cryptorchidism, Flexion contracture, Skeletal mus...	OMIM:613156
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphology, Flexion con...	ORPHA:75840
Continuous Spikes And Waves During Sleep	Speech apraxia, Clumsiness, Hyperkinetic movements, Dystonia	ORPHA:725
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Baralle-Macken Syndrome	Inability to walk, Kyphosis, Obesity, Dystonia, Global brain atrophy	OMIM:619255
Mitochondrial Complex I Deficiency, Nuclear Type 19	Rigidity, Inability to walk, Athetosis, Gait disturbance, Myoclonus, Loss of ambulation	OMIM:618241
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Episodic Ataxia, Type 5	Episodic ataxia, Ataxia, Myoclonus, Truncal ataxia	OMIM:613855
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Progressive extrapyramidal muscular rigidity, Akinesia, Impulsivity, Tremor, Park...	ORPHA:240071
Familial Hyperprolactinemia	Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Ataxia, Tremor, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Dysdi...	OMIM:610185
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea...	ORPHA:442835
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Gerstmann-Straussler Disease	Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Depression, Bradyk...	OMIM:137440
Episodic Ataxia Type 7	Episodic ataxia, Hyperkinetic movements	ORPHA:209970
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia...	OMIM:612716
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:98933
Pelizaeus-Merzbacher Disease	Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dyston...	OMIM:312080
Congenital Toxoplasmosis	Cardiomegaly, Anemia, Cognitive impairment, Microphthalmia, Thrombocytopenia, Hearing impairment	ORPHA:858
Parkinson Disease 14, Autosomal Recessive	Tremor, Hand tremor, Loss of ambulation, Eyelid apraxia, Parkinsonism, Depression, Clumsiness, Up...	OMIM:612953
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Cerebral atrophy, Gait ataxia, Dyst...	ORPHA:500180
Glycosylphosphatidylinositol Biosynthesis Defect 15	Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Apraxia, Spast...	OMIM:617810
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Impaired vibratory sensation, Babinski sign, Impaired proprioception, Sensory ataxia, Difficulty ...	OMIM:500013
Abeta Amyloidosis, Iowa Type	Gait disturbance, Myoclonus	ORPHA:324708
Autosomal Recessive Spastic Paraplegia Type 11	Ataxia, Parkinsonism, Inability to walk, Paraparesis, Gait disturbance, Abnormality of extrapyram...	ORPHA:2822
Neutral Lipid Storage Disease With Myopathy	Short stature, Fasciculations, Difficulty walking	OMIM:610717
Combined Oxidative Phosphorylation Deficiency 51	Severe short stature, Rigidity, Growth delay, Myoclonus, Intrauterine growth retardation	OMIM:619057
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, EEG with spike-wave complexes, Tremor, Bradykinesia, Poor fine motor coor...	ORPHA:36387
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Spastic tetraplegia, Ataxia, Myoclonus, Erratic myoclonus	OMIM:619971
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Short attention span, Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Ch...	OMIM:617864
Isaacs Syndrome	Calf muscle hypertrophy, Fasciculations, Distal sensory impairment	ORPHA:84142
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreoathetosis,...	OMIM:618877
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp...	OMIM:602400
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Blep...	ORPHA:101
Hereditary Hyperekplexia	Ataxia, Rigidity, Hypertonia, Gait disturbance, Myoclonus, Fasciculations, Spasticity	ORPHA:3197
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walking, Dystonia	ORPHA:330050
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Quadriceps muscle weakness, Elbow flexion contracture, Calf muscle hypertrophy, Fasciculations, A...	ORPHA:206546
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Dysto...	ORPHA:225147
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor	OMIM:610297
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Alzheimer Disease 3	Spastic tetraparesis, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Dys...	OMIM:607822
Spinocerebellar Ataxia 36	Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, Tongue fasciculation...	OMIM:614153
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Tremor, Fatty ...	ORPHA:329478
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto...	OMIM:617282
X-Linked Charcot-Marie-Tooth Disease Type 2	Clasp-knife sign, Babinski sign, Hand tremor, Distal sensory impairment, Steppage gait, Gait dist...	ORPHA:101076
Behr Syndrome	Ataxia, Tremor, Unsteady gait, Babinski sign, Optic atrophy, Dysmetria, Dysphagia, Gait disturban...	OMIM:210000
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair	ORPHA:1006
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Gait disturbance, Truncal obesity, Scoliosis	ORPHA:2429
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Kyphosis, Optic atrophy, Choreoathetosis, Gait di...	ORPHA:702
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Ataxia, Hypotonia	ORPHA:1065
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Small for gestational age	ORPHA:85288
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, EEG abnormality, Ataxia, Gait ataxia	OMIM:617831
Lipodystrophy, Congenital Generalized, Type 4	Spinal rigidity, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Flexion contracture, ...	OMIM:613327
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Prune1-Related Neurological Syndrome	Clonus, Spastic tetraparesis, Inability to walk, Tongue fasciculations, Spastic paraparesis, Infa...	ORPHA:544469
Cataract 11, Multiple Types	Microphthalmia, Chorea, Hypertonia	OMIM:610623
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Global brain ...	OMIM:616811
Flynn-Aird Syndrome	Skeletal muscle atrophy, Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Scoliosis, Cerebral...	ORPHA:2047
Syndromic X-Linked Intellectual Disability 7	Sparse body hair	ORPHA:85274
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Low-set ears, Thrombocytopenia, Spastic diplegia, Increased mean platelet volume	OMIM:300048
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen...	ORPHA:2890
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Parkinson Disease, Late-Onset	Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Abn...	OMIM:168600
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Spasticity, Ataxia, Myoclonus, Dystonia	OMIM:620094
Hypogonadism-Cataract Syndrome	Male hypogonadism, Hypogonadism, Infertility	OMIM:240950
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Depression, Bradykinesia, Inap...	OMIM:168605
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Tremor, Unsteady gait, Mental deterioration, Slurred speech, Babinski sign, Clums...	ORPHA:137898
Thyrotoxic Periodic Paralysis	Myotonia, Paralysis, Tremor, Abnormal muscle fiber morphology, Rhabdomyolysis, Tetraplegia, Respi...	ORPHA:79102
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility	OMIM:264110
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign, Mental deteriorat...	OMIM:614298
Hyperekplexia 2	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614619
Sandhoff Disease, Juvenile Form	Skeletal muscle atrophy, Incoordination, Ataxia, Limb joint contracture, Abnormal pyramidal sign,...	ORPHA:309162
Typical Nemaline Myopathy	Waddling gait, Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Limb-girdle mu...	ORPHA:171436
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Masa Syndrome	Kyphosis, Shuffling gait, Hyperlordosis	OMIM:303350
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Tremor, Impaired pain sensation, Centrally nucleated skeletal mus...	OMIM:619574
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity, Tremor, Sensorineural hearing impairment, Steppage gai...	OMIM:118300
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing...	OMIM:604536
Parkinson-Dementia Syndrome	Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia	OMIM:260540
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Tremor, Dysmetria, Gait ataxia, Steppage gait	OMIM:618387
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Neuroferritinopathy	Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski s...	ORPHA:157846
Tay-Sachs Disease	Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Hepatospleno...	ORPHA:845
Progressive Myoclonic Epilepsy Type 3	Progressive truncal ataxia, Progressive cerebellar ataxia, Chin myoclonus, Myoclonus, Limb myoclonus	ORPHA:263516
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610245
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Spinal muscular atrophy, Limb ataxia, Hand tremor, Congenital contracture, Distal amyotro...	OMIM:607596
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Spastic gait	OMIM:600363
Amyotrophic Lateral Sclerosis 5, Juvenile	Spasticity, Babinski sign, Abnormal pyramidal sign, Fasciculations	OMIM:602099
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s...	OMIM:616648
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Depression, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
4H Leukodystrophy	Dystonia, Ataxia, Tremor, Optic atrophy, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, ...	ORPHA:289494
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Babinski sign, Li...	OMIM:608643
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Spinal Arteriovenous Metameric Syndrome	Paraparesis	ORPHA:53721
Pheochromocytoma/Paraganglioma Syndrome 2	Vocal cord paralysis	OMIM:601650
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Generalized dystonia, Parkinsonism, Spastic tetraparesis, Opisthotonus, Choreoathetosis, Dystonia...	OMIM:619653
Ceroid Lipofuscinosis, Neuronal, 3	Loss of ambulation, Abnormality of extrapyramidal motor function, Parkinsonism, Myoclonus	OMIM:204200
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Kyphosis, Flexion contrac...	OMIM:254090
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Babinski sign, Gait disturbance, Myoclonus, Apraxia	OMIM:618193
Young-Onset Parkinson Disease	Restless legs, Short attention span, Impulsivity, Tremor, Rigidity, Depression, Bradykinesia, Fro...	ORPHA:2828
Thyrocerebrorenal Syndrome	Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia	ORPHA:3327
Cataracts, Spastic Paraparesis, And Speech Delay	Axial hypotonia, Spastic paraparesis	OMIM:619338
Isolated Succinate-Coq Reductase Deficiency	Ataxia, Spastic tetraparesis, Babinski sign, Lower limb hypertonia, Generalized hypotonia, Spasti...	ORPHA:3208
De Sanctis-Cacchione Syndrome	Ataxia, Bilateral cryptorchidism, Axonal degeneration, Scissor gait, Optic atrophy, Cerebral atro...	OMIM:278800
Lethal Congenital Contracture Syndrome 8	Vocal cord paralysis	OMIM:616287
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Morning myoclonic jerks, Episodic ataxia, Myoclonus, Truncal ataxia	OMIM:607682
Stuve-Wiedemann Syndrome 1	Myotonia, Ovoid vertebral bodies, Impaired pain sensation, Short neck, Elbow flexion contracture,...	OMIM:601559
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Short neck, Kyphosis, Cryptorchidism, Camptodactyly, Arthrogryposis mult...	OMIM:618393
Takenouchi-Kosaki Syndrome	Ataxia, Posteriorly rotated ears, Increased mean platelet volume, Sensorineural hearing impairmen...	OMIM:616737
Alexander Disease	Ataxia, Babinski sign, Dysmetria, Spasticity, Palatal tremor	OMIM:203450
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Dystonia, Parkinsonism, Rigidity, Mental deterioration, Depression, Bradykinesia,...	OMIM:168601
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia, Dysphagia	OMIM:618637
Acute Transverse Myelitis	Impaired vibratory sensation, Somatic sensory dysfunction, Dysesthesia, Dissociated sensory loss,...	ORPHA:139417
Pontocerebellar Hypoplasia Type 4	Hypertonia, Myoclonus	ORPHA:166063
Spinocerebellar Ataxia Type 1	Skeletal muscle atrophy, Postural tremor, Chorea, Slurred speech, Impaired proprioception, Dysmet...	ORPHA:98755
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Severe temper tantrums, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Spastic tetraplegia, ...	OMIM:617710
Lennox-Gastaut Syndrome	Falls, Myoclonus	ORPHA:2382
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Resting tremor, Abnormality of the vertebral spinous processes, Somatic senso...	ORPHA:909
Myopathy With Extrapyramidal Signs	Hyperactivity, Ventricular septal defect, Ataxia, Clonus, Tremor, Splenomegaly, Leukocytosis, Cho...	OMIM:615673
Rett Syndrome	Skeletal muscle atrophy, Dystonia, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Trun...	OMIM:312750
Coenzyme Q10 Deficiency, Primary, 4	Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia	OMIM:612016
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Abnormal cr...	ORPHA:247234
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Spastic paraplegia...	ORPHA:1215
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair	ORPHA:79402
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
Intellectual Developmental Disorder, X-Linked 12	Short stature, Tremor, Hyperkinetic movements, Gait disturbance, Spasticity	OMIM:300957
Gaucher Disease, Type Iii	Ataxia, Myoclonus, Spastic paraparesis	OMIM:231000
Spinocerebellar Ataxia, Autosomal Recessive 31	Dystonia, Ataxia, Tremor, Optic atrophy, Bruxism, Choreoathetosis, Bilateral sensorineural hearin...	OMIM:619422
Amyotrophic Lateral Sclerosis 1	Pseudobulbar paralysis, Fasciculations, Spasticity	OMIM:105400
Primary Dystonia, Dyt4 Type	Eunuchoid habitus, Torticollis, Generalized dystonia, Kyphoscoliosis, Upper limb postural tremor,...	ORPHA:98805
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Ataxia, Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow	OMIM:616819
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Cerebellar atrophy, Hypergonadotropic hypogonadism, Facial palsy,...	OMIM:615084
Amyotrophic Lateral Sclerosis 8	Skeletal muscle atrophy, Postural tremor, Abnormal pyramidal sign, Proximal amyotrophy, Distal am...	OMIM:608627
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:102
Neurodegeneration With Brain Iron Accumulation 1	Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso...	OMIM:234200
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Machado-Joseph Disease	Impaired vibratory sensation, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigi...	OMIM:109150
Huntington Disease	Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br...	ORPHA:399
Arachnoid Cyst	Inability to walk, Paraparesis, Slurred speech, Distal sensory impairment, Hemiparesis, Gait dist...	ORPHA:2356
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Low-set ears	ORPHA:477673
Salt And Pepper Developmental Regression Syndrome	Choreoathetosis, Myoclonus	OMIM:609056
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysmetria, Gait a...	ORPHA:1170
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Spastic ataxia, Progressive spastic paraparesis, Spastic tetraparesis, Generalized hypotonia	ORPHA:496756
Stiff Person Spectrum Disorder	Exaggerated startle response, Rigidity, Falls, Difficulty walking, Emotional lability	ORPHA:3198
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Steinert Myotonic Dystrophy	Handgrip myotonia, Skeletal muscle atrophy, Male hypogonadism, Foot dorsiflexor weakness, Myotoni...	ORPHA:273
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98798
Mepan Syndrome	Axial dystonia, Limb dystonia, Ataxia, Hemidystonia, Chorea, Myoclonus, Dystonia, Spasticity, Cra...	ORPHA:508093
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki...	OMIM:614831
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Tremor, Hyperkinetic movements, Gait disturbance, Upper limb spasticity	ORPHA:457240
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Tremor, Kyphosis, Cryptorchidism, Gait ataxia, Macroglossia, Abdomi...	OMIM:300354
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Ab...	ORPHA:363400
Neurogenic Arthrogryposis Multiplex Congenita	Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ...	ORPHA:1143
Thyrocerebroretinal Syndrome	Slurred speech, Ataxia, Myoclonus	OMIM:274240
Classic Galactosemia	Speech apraxia, Male infertility, Incoordination, Ataxia, Postural tremor, Premature ovarian insu...	ORPHA:79239
Pontocerebellar Hypoplasia, Type 1E	Myoclonus	OMIM:619303
Bilateral Perisylvian Polymicrogyria	Lower limb spasticity, Paraparesis, Oromotor apraxia, Spastic tetraplegia, Dysmetria, Pseudobulba...	ORPHA:98889
Hyperekplexia 3	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614618
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Hypertonia, Gait disturbance, Hyperkinetic movements	OMIM:236270
Fatty Acid Hydroxylase-Associated Neurodegeneration	Generalized dystonia, Progressive spastic paraparesis, Progressive spastic quadriplegia, Progress...	ORPHA:329308
Ceroid Lipofuscinosis, Neuronal, 1	Spasticity, Ataxia, Myoclonus	OMIM:256730
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Ataxia	OMIM:615771
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Arthrogryposis multiplex co...	ORPHA:178148
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Congenital Rubella Syndrome	Ventricular septal defect, Thrombocytopenia, Splenomegaly, Sensorineural hearing impairment, Spas...	ORPHA:290
Developmental And Epileptic Encephalopathy 42	Ataxia, Tremor, Athetosis, EEG abnormality, Hypertonia	OMIM:617106
Phosphoserine Aminotransferase Deficiency	Hypertonia, Myoclonus	OMIM:610992
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia	OMIM:616871
Mitochondrial Complex I Deficiency, Nuclear Type 31	Myoclonus, Dysmetria	OMIM:618251
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cognitive impairment, Dystonia...	ORPHA:70594
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Dystonia, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dysphagia, Lo...	OMIM:607694
Spinocerebellar Ataxia, Autosomal Recessive 21	Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Frequent falls	OMIM:616719
Poliomyelitis	Paralysis, Inability to walk, Paraparesis, Hyperkinetic movements, Paresthesia, Fasciculations	ORPHA:2912
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Optic atrophy	ORPHA:1574
Pontocerebellar Hypoplasia, Type 4	Spasticity, Hypertonia, Myoclonus	OMIM:225753
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga...	OMIM:615530
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Broad-based gait, Dilated cardiomyopathy, Microcytic anemia	OMIM:618805
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Abnormal eating behavior, Tremor, Anteverted ears, Macrotia, Poor coordination, Gait dist...	ORPHA:544254
Neurofibromatosis, Familial Spinal	Paraparesis	OMIM:162210
Spinocerebellar Ataxia 1	Impaired vibratory sensation, Skeletal muscle atrophy, Impaired pain sensation, Chorea, Babinski ...	OMIM:164400
Dermoodontodysplasia	Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair	ORPHA:1660
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Ataxia, Head titubation, Truncal ataxia, Dysmetria, Myoclonus, Dystonia	OMIM:250620
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst...	OMIM:619911
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Axonal degeneration, Neurodegeneration, Diffuse cerebellar atrophy, Global brai...	ORPHA:478029
Spinocerebellar Ataxia Type 32	Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy	ORPHA:276183
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Facial palsy, Aggressive behavior, Tremor, Progressive hearing impairm...	ORPHA:97229
Borjeson-Forssman-Lehmann Syndrome	Kyphosis, Cryptorchidism, Obesity, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal...	OMIM:301900
Hyperekplexia 1	Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls	OMIM:149400
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Laryngeal Abductor Paralysis	Vocal cord paralysis	OMIM:150260
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Large fleshy ears, Hypertonia, Attention deficit hyperactivity...	OMIM:619556
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis, Congenital fibrosis of extraocular muscles	OMIM:609384
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Cardiomyopathy, Facial palsy, Inability to walk	OMIM:613155
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Low-set ears	OMIM:616570
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Succinic Semialdehyde Dehydrogenase Deficiency	Hyperkinetic movements, Ataxia	OMIM:271980
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Large fleshy ears, Hypertonia, Myoclonus, Low-set ears, Overfolded h...	OMIM:619092
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Ataxia, Oculomotor apraxia, Dysmetria, Sparse hair, Spasticity, Hirsutism, Limb hypertonia	OMIM:618087
Purine Nucleoside Phosphorylase Deficiency	Abnormal central motor function, Ataxia, Cerebral palsy, Hypotonia, Hypertonia, Spastic parapares...	ORPHA:760
Spinocerebellar Ataxia Type 13	Torticollis, Short stature, Limb ataxia, Titubation, Clumsiness, Gait ataxia, Bradykinesia, Myocl...	ORPHA:98768
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Abnormal fingernail morphology, Sparse body hair	ORPHA:1810
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella...	OMIM:620356
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Spastic tetraplegia, ...	ORPHA:3240
Primary Progressive Freezing Gait	Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Dementia, Shufflin...	ORPHA:75567
Sialidosis Type 2	Skeletal muscle atrophy, Ataxia, Tremor, Kyphosis, Flexion contracture	ORPHA:87876
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr...	ORPHA:309246
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Hyperkinetic movements, Difficulty walking, Truncal ataxia	ORPHA:369847
Paget Disease Of Bone 2, Early-Onset	Paraparesis, Tetraparesis	OMIM:602080
Ataxia-Telangiectasia	Ataxia, Tremor, Gait disturbance, Cognitive impairment, Spasticity, Lymphopenia	ORPHA:100
Glioblastoma	Paralysis	ORPHA:360
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Rigidity, Babinski sign, Gait disturbance, Myoclonus	OMIM:600795
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase...	OMIM:613157
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Hereditary Late-Onset Parkinson Disease	Resting tremor, Dystonia, Parkinsonism, Impulsivity, Akinesia, Rigidity, Depression, Bradykinesia...	ORPHA:411602
Amyotrophy, Monomelic	Fasciculations	OMIM:602440
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Restlessness, Hyperactivity, Incoordination, Ventricular septal defect, Ataxia, Hearing impairmen...	ORPHA:369891
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Infantile Krabbe Disease	Psychomotor deterioration, Lower limb spasticity, Prolonged brainstem auditory evoked potentials,...	ORPHA:206436
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Skeletal muscle hypertrophy, Macroglossia, Gait disturbance, Myopathy	ORPHA:2349
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Abnormal posturing, Opisthotonus, Spasticity, Frequent falls	ORPHA:216866
Jaberi-Elahi Syndrome	Broad-based gait, Tremor, Kyphosis, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Cho...	OMIM:617988
Cofs Syndrome	Microphthalmia, Sensorineural hearing impairment, Hypertonia, Optic atrophy	ORPHA:1466
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Myopathy, Generalized limb muscle atrophy, Scoliosis	ORPHA:2598
Angioedema, Hereditary, 1	Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration	OMIM:106100
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Progressive spasticity	ORPHA:2528
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ataxia, Short stature, Babinski sign, Myoclonus, Truncal ataxia, Spasticity	OMIM:252011
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Appendicular spasticity, Ventricular septal defect, Posteriorly rotated ears, Inability to walk, ...	OMIM:618494
Adams-Oliver Syndrome 4	Atrial septal defect, Microphthalmia, Ventricular septal defect	OMIM:615297
Combined Oxidative Phosphorylation Defect Type 7	Ataxia, Inability to walk, Abnormal pyramidal sign, Impaired tandem gait, Distal sensory impairme...	ORPHA:254930
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Obesity, Scoliosis	ORPHA:276630
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Tremor, Abnormal pyramidal sign, Truncal ataxia, Paraplegia, Limb ataxia, Hemiparesis, Po...	OMIM:105210
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:181
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Flexion contrac...	OMIM:611588
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H...	OMIM:272750
Saccharopinuria	Tremor, Spastic diplegia, Gait ataxia, Cognitive impairment, Mental deterioration	ORPHA:3124
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Myoclonus, Intractable, Neonatal	Athetosis, Chorea, Myoclonus	OMIM:617235
Spinocerebellar Ataxia, Autosomal Recessive 30	Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors	OMIM:619405
Sneddon Syndrome	Bicuspid aortic valve, Facial palsy, Tremor, Hemiplegia, Mental deterioration, Lymphopenia	OMIM:182410
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Obes...	ORPHA:3085
Xq27.3Q28 Duplication Syndrome	Sparse body hair	ORPHA:261483
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Hypertonia, Steppage gait, Myoclonus, Inte...	OMIM:616505
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response, Hearing impairment, Depression	OMIM:620114
Myoclonic Epilepsy Of Infancy	Hemiplegia, Poor motor coordination, Myoclonus, Poor hand-eye coordination	ORPHA:86909
Cockayne Syndrome Type 1	Lower limb spasticity, Absent brainstem auditory responses, Anophthalmia, Ataxia, Tremor, Optic a...	ORPHA:90321
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, ...	ORPHA:98794
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis	OMIM:613239
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Failure to thrive, Myopathy, Scoliosis	OMIM:618234
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy...	OMIM:608840
Peroxisome Biogenesis Disorder 5B	Ataxia, Tremor, Sensorineural hearing impairment, Unsteady gait, Dysmetria, Oculomotor apraxia	OMIM:614867
Hemifacial Atrophy, Progressive	Kyphosis, Ataxia	OMIM:141300
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depre...	ORPHA:100924
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Impaired vibration sensation in the lower limbs, Generalized limb muscle atrophy, Clumsiness, Fac...	ORPHA:521411
Nanophthalmos	Microphthalmia	ORPHA:35612
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Cerebellar atrophy, Hypergonadotropic hypogonadism, Spinal rigidi...	ORPHA:352447
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair	ORPHA:59303
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo...	ORPHA:204
Juvenile Absence Epilepsy	Myoclonus	ORPHA:1941
Familial Cervical Artery Dissection	Paralysis	ORPHA:36382
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Scoliosis	OMIM:300434
Congenital Disorder Of Glycosylation, Type Iig	Posteriorly rotated ears, Conductive hearing impairment, Giant platelets, Anemia, Microtia, Low-s...	OMIM:611209
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Ataxia, Babinski sign, Gait ataxia, Hyperkinetic movements, Loss of ambulation, Spasticity	OMIM:620089
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Difficulty walking, Oculomotor ap...	ORPHA:529665
Caribbean Parkinsonism	Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ...	ORPHA:97355
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Schaaf-Yang Syndrome	Failure to thrive in infancy, Inability to walk, Kyphosis, Flexion contracture, Cryptorchidism, O...	OMIM:615547
Farber Disease	Paraparesis, Spasticity, Myoclonus, Infantile muscular hypotonia	ORPHA:333
Leukodystrophy, Hypomyelinating, 3	Appendicular spasticity, Axial hypotonia, Abnormal pyramidal sign, Spastic paraparesis	OMIM:260600
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Ataxia, Babinski sign, Dysmetria, Dysdiadochokinesis, Hypertonia, Myoclonus, Intention tremor	OMIM:618356
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures	ORPHA:3454
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair	ORPHA:1897
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Ataxia, Abnormal dense granules, Tremor, Thrombocytope...	OMIM:214500
Uruguay Faciocardiomusculoskeletal Syndrome	Waddling gait, Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Skeletal muscle hypertroph...	OMIM:300280
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ...	ORPHA:1807
O'Sullivan-Mcleod Syndrome	Somatic sensory dysfunction, Hand muscle weakness, Tremor, Intrinsic hand muscle atrophy, Upper l...	ORPHA:99965
Spermatogenic Failure 38	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h...	OMIM:618433
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Fasciculations, Centrally nucleated skeletal muscle ...	ORPHA:324581
Mmep Syndrome	Microphthalmia, Ventricular septal defect	ORPHA:3434
Pontocerebellar Hypoplasia, Type 1D	Multiple joint contractures, Flexion contracture, Tongue fasciculations, Fasciculations, Generali...	OMIM:618065
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Gait ataxia, Reduced hair sulfur content, Sparse...	OMIM:300953
Bazex-Dupre-Christol Syndrome	Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa	OMIM:301845
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Loss of ability to walk in early childhood, Short stature, Inability to walk, Athetosis, Hyperkin...	OMIM:612073
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Dementia, Shuffling gait...	OMIM:311510
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Low posterior hairline	ORPHA:2183
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ...	OMIM:234050
Wolfram Syndrome 1	Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Sensorineural hearing impairment, Opt...	OMIM:222300
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Optic atrophy, Optic disc pallor	OMIM:616171
Classic Phenylketonuria	Tremor, Paraplegia, Depression, Self-injurious behavior, Hypertonia, Hemiplegia, Attention defici...	ORPHA:79254
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Waddling gait, Ataxia, Short stature, Tremor, Inability to walk, Chorea, Athetosi...	OMIM:615356
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti...	OMIM:608768
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Gand Syndrome	Sparse hair	OMIM:615074
Sandhoff Disease	Exaggerated startle response, Orthostatic hypotension, Ataxia, Cardiomegaly, Progressive psychomo...	OMIM:268800
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment,...	OMIM:619260
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tremor, Lethargy, Agitation, Progressive neurologic deterioration	ORPHA:276608
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Mcdonough Syndrome	Cachexia, Kyphosis, Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis	ORPHA:2471
Hyperekplexia 4	Hypertonia, Myoclonus	OMIM:618011
Intellectual Developmental Disorder, Autosomal Recessive 5	Synophrys, Hypertonia, Sparse hair, Spasticity, Thick eyebrow	OMIM:611091
Aceruloplasminemia	Refractory anemia, Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Ri...	ORPHA:48818
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Myoclonus, Intention tremor	OMIM:610539
Parkinsonian-Pyramidal Syndrome	Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Dystonia...	ORPHA:171695
Foodborne Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:228371
Optic Atrophy 11	Ataxia, Short stature, Gait apraxia, Dysmetria, Athetosis, Hyperkinetic movements	OMIM:617302
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Leukemia, Ventricular septal defect, Large earlobe	OMIM:602501
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Skeletal muscle hypertrophy, Blepharo...	OMIM:602124
Choreoacanthocytosis	Chorea, Oromandibular dystonia, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulati...	ORPHA:2388
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Autism Spectrum Disorder Due To Auts2 Deficiency	Small for gestational age, Kyphosis, Cryptorchidism, Congenital contracture, Joint contracture of...	ORPHA:352490
Winchester Syndrome	Kyphosis	OMIM:277950
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Developmental And Epileptic Encephalopathy 54	Myoclonus	OMIM:617391
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn...	ORPHA:466768
Stiff-Person Syndrome	Exaggerated startle response, Rigidity, Opisthotonus, Depression, Myoclonic spasms, Frequent fall...	OMIM:184850
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia	OMIM:618060
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N...	ORPHA:251393
Braddock-Carey Syndrome 2	Microphthalmia, Atresia of the external auditory canal, Thrombocytopenia, Hearing impairment	OMIM:619981
Multifocal Motor Neuropathy	Limb muscle weakness, Weakness of long finger extensor muscles, Fasciculations	ORPHA:641
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Ataxia, Nail dystrophy	OMIM:616353
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, Paralysis, Abnormal hair morphology, Small nail	OMIM:242100
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Dysmetria	OMIM:615578
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis	OMIM:188580
Metatropic Dysplasia	Relatively short spine, Peripheral axonal neuropathy, Kyphoscoliosis, Hypoplasia of the odontoid ...	OMIM:156530
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Dementia, Abnormal aut...	OMIM:616840
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Cerebral palsy, Impulsivity, Aggressive behavior, Patent foramen ovale, Lens coloboma, Cupped ear...	OMIM:618914
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Pierpont Syndrome	Posteriorly rotated ears, Large fleshy ears, Hypertonia, Microphthalmia, Hearing impairment	OMIM:602342
Early Myoclonic Encephalopathy	Myoclonus	ORPHA:1935
Tick-Borne Encephalitis	Anorexia, Tremor, Leukopenia, Tongue fasciculations, Fatigable weakness of respiratory muscles, D...	ORPHA:297
Nicolaides-Baraitser Syndrome	Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair	ORPHA:3051
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto...	ORPHA:765
Menkes Disease	Alopecia, Brittle hair, Babinski sign, Hypertonia, Sparse hair	OMIM:309400
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly	OMIM:313420
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Short stature, Fatty replacement of skeletal muscle, Generalized amyotrophy, Fasciculations, Incr...	ORPHA:52430
Hemihyperplasia, Isolated	Skeletal muscle hypertrophy, Scoliosis	OMIM:235000
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hemiparesis, Paraparesis, Paraplegia	ORPHA:79124
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair	OMIM:608615
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Chorea, Unsteady gait, Progressive cerebellar ataxia, Upper limb spasticit...	ORPHA:485350
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi...	OMIM:618056
Sialidosis Type 1	Skeletal muscle atrophy, Ataxia, Tremor, Kyphosis, Abnormal form of the vertebral bodies, Gait di...	ORPHA:812
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Rhizomelia, Tremor, Opisthotonus, Choreoathetosis, Growth delay, Hyperkinetic movements, ...	OMIM:616271
Epilepsy, Progressive Myoclonic, 10	Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Myoclonus, Spasticity	OMIM:616640
Ck Syndrome	Kyphosis, Slender build, Scoliosis, Hyperlordosis	OMIM:300831
Pierpont Syndrome	Posteriorly rotated ears, Uplifted earlobe, Microphthalmia, Macrotia, Hearing impairment	ORPHA:487825
Filippi Syndrome	Sparse hair, Frontal hirsutism, Hypertrichosis	OMIM:272440
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia, Hypoplastic left atrium, Ventricular septal defect	OMIM:615524
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Sensorineural hearing impairment, Macrothrombocytopenia, Thrombocy...	OMIM:124900
Trichohepatoenteric Syndrome 2	Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:614602
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Abnormality of extrapyramidal motor function, Myoclonus	OMIM:604218
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair	OMIM:613576
Mitochondrial Complex I Deficiency, Nuclear Type 4	Spasticity, Ataxia, Myoclonus	OMIM:618225
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc...	OMIM:600501
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Oculodentodigital Dysplasia	Paraparesis, Spasticity, Ataxia, Tetraparesis	OMIM:164200
Moebius Syndrome	Abnormal pinna morphology, Poor coordination, Clumsiness, Facial diplegia, Dysdiadochokinesis, Ga...	OMIM:157900
Warburg Micro Syndrome 1	Optic atrophy, Spastic diplegia, Low-set ears, Microphthalmia, Macrotia	OMIM:600118
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Nipah Virus Disease	Tremor, Myoclonus	ORPHA:99825
Blepharocheilodontic Syndrome 1	Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis	OMIM:119580
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Bradykinesia, Blepharospasm, Parkinsonis...	OMIM:606324
Leukodystrophy, Hypomyelinating, 10	Inability to walk, Spasticity, Babinski sign, Hyperkinetic movements	OMIM:616420
2Q24 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Microphthalmia	ORPHA:1617
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Coarse hair, Brittle hair	ORPHA:1883
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Dystonia, Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria, Gait ataxia, Dysdiad...	OMIM:614381
Niemann-Pick Disease Type C	Bone-marrow foam cells, Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal ...	ORPHA:646
Glycine Encephalopathy 1	Myoclonus	OMIM:605899
Coenzyme Q10 Deficiency, Primary, 1	Right hemiplegia, Pancytopenia, Ataxia, Tremor, Sensorineural hearing impairment, Myoclonus, Dysp...	OMIM:607426
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Kyphosis, Gait imbalance, Sco...	OMIM:211530
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic...	OMIM:614941
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
Progeroid Syndrome, Petty Type	Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows...	ORPHA:2963
Hall-Riggs Syndrome	Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive	OMIM:234250
Behavioral Variant Of Frontotemporal Dementia	Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Upper motor neuro...	ORPHA:275864
Combined Oxidative Phosphorylation Deficiency 32	Tremor, Inability to walk, Optic atrophy, Dysphagia, Choreoathetosis, Dystonia, Spasticity	OMIM:617664
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Optic atrophy, Abnormality of extrapyramidal mot...	ORPHA:320406
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia	OMIM:312170
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Limb joint contracture, Increased in...	ORPHA:93314
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Gait disturbance	ORPHA:85193
Hsd10 Disease, Infantile Type	Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Hyperkinetic movement...	ORPHA:391428
Microtriplication 11Q24.1	Speech apraxia, Hyperkinetic movements, Short stature	ORPHA:289522
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Kinetic tremor, Gait ataxia, Fine hair, Truncal ataxia, Sparse hair, Spasticity	OMIM:616817
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Optic disc pallor, Posteriorly rotated ears, Atrial septal defect, Micro...	OMIM:300887
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Refsum Disease	Ataxia, Splenomegaly, Hemiplegia/hemiparesis, Sensorineural hearing impairment, Abnormal pyramida...	ORPHA:773
Congenital Myopathy 22A, Classic	Waddling gait, Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Centrally ...	OMIM:620351
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Babinski sign, Gait disturbance, Myoclonus, Apraxia, Spasticity	OMIM:221770
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Skeletal muscle atrophy, Fasciculations	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Skeletal muscle atrophy, Fasciculations	OMIM:616437
Early-Onset Lafora Body Disease	Ataxia, Myoclonus, Spastic tetraparesis	ORPHA:324290
Perry Syndrome	Parkinsonism, Tremor, Depression, Dementia, Abnormality of extrapyramidal motor function	ORPHA:178509
Gerstmann-Straussler-Scheinker Syndrome	Limb myoclonus, Abnormality of extrapyramidal motor function, Gait ataxia	ORPHA:356
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
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Trichohepatoenteric Syndrome 1	Ventricular septal defect, Increased mean platelet volume, Splenomegaly, Microtia, Pulmonic steno...	OMIM:222470
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair	OMIM:273390
Ichthyosis, Congenital, Autosomal Recessive 1	Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia	OMIM:242300
Autosomal Recessive Spastic Paraplegia Type 77	Paroxysmal dystonia, Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progr...	ORPHA:466722
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Involuntary movements, Abnormal pyramidal sign, Myoclonus, Dysmetria	OMIM:619780
Snakebite Envenomation	Pseudobulbar paralysis, Respiratory paralysis, Paralysis	ORPHA:449285
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia	OMIM:619644
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism, Fasciculations, Int...	OMIM:620327
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonus, ...	OMIM:619847
Rift Valley Fever	Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis	ORPHA:319251
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Dysmetria, Depression, Limb ataxia, Dysdiadochokinesis, Diffic...	OMIM:617675
Gm1 Gangliosidosis	Generalized dystonia, Ataxia, Camptodactyly of finger, Hyperlordosis, Tremor, Kyphosis, Unsteady ...	ORPHA:354
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Gait disturbance, Scoliosis	ORPHA:2181
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Facial palsy, Short neck, Inability to walk, Kyphosis, Flexion contracture, Achi...	OMIM:301041
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia, Optic atrophy, Low-set ears, Dysphagia, Microphthalmia, Spasticity	OMIM:612379
Osteopetrosis, Autosomal Recessive 8	Facial palsy, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Thrombocytopenia	OMIM:615085
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Cryptorchidism	OMIM:618512
Schindler Disease, Type I	Spasticity, Myoclonus	OMIM:609241
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Myoclonus, Dysph...	OMIM:254900
Sjogren-Larsson Syndrome	Spasticity, Spastic paraparesis	OMIM:270200
Wieacker-Wolff Syndrome	Dystonia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Cerebral atrophy, Congenital foot co...	OMIM:314580
Peho-Like Syndrome	Myoclonus	OMIM:617507
Congenital Disorder Of Glycosylation, Type Iif	Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia	OMIM:603585
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Hearing impairment	OMIM:120433
Dravet Syndrome	Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina...	ORPHA:33069
Microphthalmia, Isolated 5	Microphthalmia, Optic disc pallor, Optic disc drusen	OMIM:611040
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Generalized dystonia, Corpus callosum atrophy, Kyphosis, Optic atrophy, Dysme...	ORPHA:171629
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Unsteady gait, Hand tremor, Dysmetria, Infantile muscular hypotonia, Spastic paraparesis	ORPHA:3041
Syndromic Diarrhea	Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Increased mean platelet volume, Sp...	ORPHA:84064
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Inability to walk, Broad-based gait, Myoclonus	OMIM:616158
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Abnormal testis morphology, Scoliosis	ORPHA:1548
Intellectual Developmental Disorder, Autosomal Dominant 26	Kyphosis, Arthrogryposis multiplex congenita, Small for gestational age, Scoliosis	OMIM:615834
Intellectual Developmental Disorder, Autosomal Dominant 65	Ataxia, Synophrys, Low posterior hairline, Clumsiness, Thin eyebrow, Sparse hair	OMIM:619320
Posttransplant Acute Limbic Encephalitis	Ataxia, Myoclonus, Dystonia	ORPHA:163921
Osteoporosis-Pseudoglioma Syndrome	Loss of ambulation, Microphthalmia, Waddling gait	ORPHA:2788
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Obstructive azoospermia	OMIM:301060
Adenylosuccinase Deficiency	Inability to walk, Opisthotonus, Gait ataxia, Growth delay, Myoclonus, Hemiplegia, Spasticity	OMIM:103050
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Inability to walk, Babinski sign, Optic atrophy, Spast...	OMIM:615663
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec...	ORPHA:2930
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Kyphosis, Cryptorchidism, Cerebral atrophy, Scoliosis	OMIM:619797
Xk Aprosencephaly Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect	ORPHA:3469
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Sensorineural hearing impairment, Low-set ears, Atrial s...	OMIM:618652
Foix-Alajouanine Syndrome	Somatic sensory dysfunction, Dysesthesia, Progressive spastic paraparesis, Unsteady gait, Paresth...	ORPHA:79093
Developmental And Epileptic Encephalopathy 4	Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraplegia, Hypsarrhythmia, Chor...	OMIM:612164
Cockayne Syndrome Type 2	Ataxia, Kyphosis, Cryptorchidism, Flexion contracture, Gait disturbance, Difficulty walking, Scol...	ORPHA:90322
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair	ORPHA:69735
Zimmermann-Laband Syndrome 3	Kyphosis, Flexion contracture	OMIM:618658
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Growth delay, Cryptorchidism, Abnormal posturing	OMIM:614857
3P25.3 Microdeletion Syndrome	Ventricular septal defect, Ataxia, Sensorineural hearing impairment, Pulmonic stenosis, Attention...	ORPHA:435638
Autosomal Recessive Spastic Paraplegia Type 20	Impaired vibratory sensation, Speech apraxia, Babinski sign, Slurred speech, Spastic dysarthria, ...	ORPHA:101000
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag...	OMIM:609136
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Developmental And Epileptic Encephalopathy 101	Myoclonus, Opisthotonus	OMIM:619814
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebellar atrophy, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, ...	OMIM:618443
Rere-Related Neurodevelopmental Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Optic atrophy, Abnormal heart morph...	ORPHA:494344
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair	ORPHA:1839
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Hearing impairment	OMIM:610023
Srd5A3-Cdg	Cerebellar atrophy, Ataxia, Kyphosis, Abnormal sacrum morphology, Optic atrophy	ORPHA:324737
Fanconi Anemia, Complementation Group S	Microphthalmia, Ataxia, Anemia	OMIM:617883
Anauxetic Dysplasia 2	Sparse hair, Nail dysplasia, Small nail	OMIM:617396
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:620103
Metachromatic Leukodystrophy	Incoordination, Ataxia, Dystonia, Hearing impairment, Tremor, Decreased nerve conduction velocity...	ORPHA:512
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair, Cerebral palsy, Appendicular spasticity	OMIM:620001
Cardiocranial Syndrome, Pfeiffer Type	Sparse hair, Abnormal hair whorl, Torticollis	ORPHA:2872
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Perianal abscess, ...	OMIM:612541
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Spasticity, Ventricular septal defect, Optic disc pallor	OMIM:613730
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,...	OMIM:616586
Craniotelencephalic Dysplasia	Low-set, posteriorly rotated ears, Microphthalmia, Septo-optic dysplasia, Optic atrophy	ORPHA:1528
Lelis Syndrome	Yellow nails, Absent lower eyelashes, Nail dystrophy, Sparse hair, Abnormal toenail morphology, S...	ORPHA:140936
Alternating Hemiplegia Of Childhood	Anorexia, Oral-pharyngeal dysphagia, Progressive neurologic deterioration, Tremor, Chorea, Abnorm...	ORPHA:2131
Inhalational Botulism	Paralysis	ORPHA:254504
Joubert Syndrome 14	Ventricular septal defect, Ataxia, Posteriorly rotated ears, Optic atrophy, Irritability, Low-set...	OMIM:614424
Migraine, Familial Hemiplegic, 2	Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hyperto...	ORPHA:309854
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Tremor, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochokines...	ORPHA:502423
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse hair, Sparse eyebrow	OMIM:619989
Mogs-Cdg	Absent brainstem auditory responses, Cardiomegaly, Sensorineural hearing impairment, Optic atroph...	ORPHA:79330
Wars2-Related Combined Oxidative Phosphorylation Defect	Limb dystonia, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Cardiomyopath...	ORPHA:572798
Supranuclear Palsy, Progressive, 1	Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykin...	OMIM:601104
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Frequent falls, Abnormal auditory evoked potentials	OMIM:617523
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia	OMIM:619949
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal form of the ...	ORPHA:2635
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Hypertonia, Myoclonus	OMIM:617290
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Chédiak-Higashi Syndrome	Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Ataxia, Par...	ORPHA:167
Trisomy 13	Anophthalmia, Ventricular septal defect, Sensorineural hearing impairment, Optic atrophy, Aplasia...	ORPHA:3378
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Spasticity, Macrotia	OMIM:619694
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impa...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impa...	ORPHA:529799
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Ataxia, Hemiparesis, Gait disturbance, Generalized neonatal hypotonia, Spa...	ORPHA:395
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Brittle hair, Absent nipple, Absent hair	OMIM:614940
Typhoid	Ataxia, Tremor, Splenomegaly, Hypertonia, Lethargy	ORPHA:99745
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor	ORPHA:713
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Hypomelanosis Of Ito	Kyphosis, Scoliosis, Cerebral atrophy	OMIM:300337
Familial Infantile Myoclonic Epilepsy	Ataxia, Clumsiness, Blepharospasm, Gait disturbance, Limb myoclonus	ORPHA:352582
Trichothiodystrophy 3, Photosensitive	Hypertonia, Low-set ears, Neutropenia, Microphthalmia, Lymphopenia, Hearing impairment	OMIM:616395
Microphthalmia, Syndromic 13	Anteverted ears, Microphthalmia	OMIM:300915
Olmsted Syndrome 2	Sparse hair, Woolly hair, Alopecia universalis	OMIM:619208
Machado-Joseph Disease Type 3	Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si...	ORPHA:276244
Lissencephaly 8	Appendicular spasticity, Microphthalmia, Optic atrophy	OMIM:617255
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:109120
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Cat-Eye Syndrome	Microphthalmia, Hearing impairment	ORPHA:195
Short Stature-Micrognathia Syndrome	Cerebellar atrophy, Ataxia, Cryptorchidism, Gait ataxia, Skeletal muscle hypertrophy, Decreased b...	OMIM:617164
Bruck Syndrome 1	Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin...	OMIM:259450
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Optic disc pallor, Tremor, Kyphosis, Unsteady gait, Cerebral atrophy, My...	OMIM:615512
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Hypertonia, Short stature, Myoclonus	ORPHA:289266
Adams-Oliver Syndrome	Abnormal pulmonary valve morphology, Hemiparesis, Leukopenia, EEG abnormality, Hypertonia, Microp...	ORPHA:974
Japanese Encephalitis	Decreased motor nerve conduction velocity, Neutrophilia, Weakness due to upper motor neuron dysfu...	ORPHA:79139
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, My...	ORPHA:79279
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contractur...	OMIM:618291
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Short stature, Unilateral cryptorchidism, Female infertility, Cry...	ORPHA:261529
Developmental And Epileptic Encephalopathy 23	Myoclonus	OMIM:615859
Cranioectodermal Dysplasia	Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology	ORPHA:1515
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Camptodactyly of finger, Cachexia, Short neck, Tremor, Kyphosis, Obesity, Hypog...	ORPHA:85293
Olmsted Syndrome 1	Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis	OMIM:614594
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey...	ORPHA:1787
Atelis Syndrome 2	Thrombocytopenia, Dysmetria, Supravalvar pulmonary stenosis, Protruding ear, Pulmonic stenosis, A...	OMIM:620185
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Tremor, Splenomegaly, Irritability, Emotional lability, Lethargy	OMIM:201100
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann sign, Dysmetria,...	ORPHA:139396
Kanzaki Disease	Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment	OMIM:609242
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Inability to walk, Abnormal heart morphology, Protruding ear, Gait disturbance, Difficulty walkin...	OMIM:618571
Xeroderma Pigmentosum, Complementation Group D	Ataxia, Sensorineural hearing impairment, Choreoathetosis, Mental deterioration, Microphthalmia, ...	OMIM:278730
Amyotrophic Lateral Sclerosis	Spasticity, Paralysis	ORPHA:803
Even-Plus Syndrome	Sparse hair, Synophrys, Highly arched eyebrow	OMIM:616854
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia	ORPHA:1020
Ifap Syndrome 2	Sparse hair, Nail dystrophy, Atrichia	OMIM:619016
Hemimegalencephaly	Hemiparesis, Myoclonus	ORPHA:99802
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Sensorineural hearing impairment, Babinski sign, Abnormal pyramidal sign, Spastic dysarth...	ORPHA:447753
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive...	OMIM:129400
3Q29 Microdeletion Syndrome	Aggressive behavior, Depression, Gait disturbance, Attention deficit hyperactivity disorder, Subv...	ORPHA:65286
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Increased mean platelet volume, Optic atrophy, Abnormal heart ...	ORPHA:487796
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Sensorineural hearing impairment, Optic atrophy	ORPHA:1473
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Aggressive behavior, Protruding ear, Gait disturbance, Attention deficit hyperactivity disorder, ...	OMIM:620098
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Tremor, Inability to walk, Sensorineural hearing...	ORPHA:99956
Shox-Related Short Stature	Skeletal muscle hypertrophy, Obesity, Scoliosis, Short neck	ORPHA:314795
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Aggressive behavior, Optic atrophy, Protruding ear, Agitation, Attention deficit hyperactivity di...	OMIM:152950
Warburg Micro Syndrome 3	Lower limb spasticity, Inability to walk, Optic atrophy, Spastic tetraplegia, Ankle clonus, Micro...	OMIM:614222
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Ataxia, Pure red cell aplasia, Autoimmune thrombocytopenia, Tremor, ...	OMIM:613179
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Sparse hair, Alopecia of scalp	OMIM:615280
Ataxia-Telangiectasia	Ataxia, Tremor, Inability to walk, Slurred speech, Acute lymphoblastic leukemia, T lymphocytopeni...	OMIM:208900
Den Hoed-De Boer-Voisin Syndrome	Short attention span, Lower limb spasticity, EEG with focal spike waves, Ventricular septal defec...	OMIM:619229
Congenital Myopathy 15	Vocal cord paralysis	OMIM:620161
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Pyridoxal Phosphate-Responsive Seizures	Unsteady gait, Hypertonia, Myoclonus	ORPHA:79096
3-Methylglutaconic Aciduria Type 7	Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Growth delay, Hypertonia, Abn...	ORPHA:445038
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Ventricular septal defect, Low-set ears	ORPHA:93267
Zimmermann-Laband Syndrome 2	Macroglossia, Kyphosis, Short neck	OMIM:616455
Congenital Fibrinogen Deficiency	Splenic rupture, Opisthotonus, Left ventricular hypertrophy, Microphthalmia, Right ventricular hy...	ORPHA:335
Serotonin Syndrome	Restlessness, Confusion, Clonus, Tremor, Rigidity, Irritability, Hypertonia, Agitation, Myoclonus...	ORPHA:43116
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Obesity, Hypogonadism, Flexion con...	ORPHA:3409
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hypertonia, Myoclonus	OMIM:618240
2Q32Q33 Microdeletion Syndrome	Sparse hair, Fine hair	ORPHA:251019
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Abnormal pyramidal sign, EEG abnormality, Microphthalmia, Spasticity	OMIM:614833
Autosomal Recessive Spastic Paraplegia Type 55	Lower limb spasticity, Babinski sign, Distal sensory impairment, Poor fine motor coordination, Sp...	ORPHA:320375
Meckel Syndrome, Type 8	Pericardial effusion, Microphthalmia, Anophthalmia, Low-set ears	OMIM:613885
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Slender build, Scoliosis	OMIM:300676
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity, Dystonia, Tremor, Chorea, Abnormal pyramidal sign, Lim...	OMIM:606002
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Xp22.13P22.2 Duplication Syndrome	Sparse hair, High anterior hairline, Slowed slurred speech	ORPHA:284180
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Short neck, Kyphosis, Failure to thrive, Global brain atrophy	OMIM:608776
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst...	ORPHA:3253
Desbuquois Syndrome	Sparse hair, Abnormal eyelash morphology	ORPHA:1425
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Optic nerve hypoplasia, Conductive hearing impairment, Neutropenia, At...	OMIM:609053
Asparagine Synthetase Deficiency	Exaggerated startle response, Optic nerve hypoplasia, Clonus, Tremor, Simple ear, EEG with burst ...	OMIM:615574
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno...	OMIM:607330
Glutaryl-Coa Dehydrogenase Deficiency	Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, De...	ORPHA:25
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sparse facial hair, Sparse axillary hair	OMIM:608154
Revesz Syndrome	Ataxia, Nail pits, Fine hair, Hypertonia, Nail dystrophy, Sparse hair, Ridged fingernail	OMIM:268130
Intellectual Developmental Disorder, Autosomal Dominant 23	Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis	OMIM:615761
Smith-Mccort Dysplasia 1	Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability...	OMIM:607326
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Vertebral segmentation defect, Scoliosis, Cryptorchidism	ORPHA:2617
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Intrauterine growth retardation, Hypertonia, Myoclonus, Spastic tetraparesis	ORPHA:284417
Microphthalmia-Brain Atrophy Syndrome	Spasticity, Tongue thrusting, Bilateral microphthalmos	ORPHA:77299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Angelman Syndrome	Optic disc pallor, Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Tremor, Inabilit...	ORPHA:72
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Macroorchidism, Oligozoospermia	ORPHA:3000
Braddock-Carey Syndrome 1	Sparse hair, Curly hair, Spastic diplegia	OMIM:619980
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Contracture of the proximal interphalangeal joint of the 3rd finger, Kyphosis, Contracture of the...	OMIM:130060
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Hyperkinetic movements, Ataxia, Loss of ability to walk in first decade, Truncal ataxia	OMIM:300243
Congenital Bile Acid Synthesis Defect Type 4	Ataxia, Tremor, Depression, Mental deterioration, Memory impairment	ORPHA:79095
Sandhoff Disease, Infantile Form	Exaggerated startle response, Myoclonus, Spasticity	ORPHA:309155
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Optic disc pallor	OMIM:251270
Mucopolysaccharidosis, Type Iva	Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc...	OMIM:253000
Frontonasal Dysplasia 1	Conductive hearing impairment, Microphthalmia, Tetralogy of Fallot, Low-set ears	OMIM:136760
Fanconi Anemia, Complementation Group E	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Abnormal heart morphology, Neutropenia, Microp...	OMIM:600901
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Synophrys, Low anterior hairline, Fine hair, Spastic paraparesis, Sparse hair	ORPHA:391408
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Inability to walk, Kyphosis, Unsteady gait, Elbow flexion contracture, Obesity, ...	OMIM:618493
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, EEG abnormality, Perimembranous ventricular septal defect, Lo...	OMIM:618804
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Myoclonus	ORPHA:411986
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance	ORPHA:83629
15Q24 Microdeletion Syndrome	Small for gestational age, Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Obesity, Sc...	ORPHA:94065
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Clonus, Tremor, Facial pa...	OMIM:619424
Arthrogryposis, Distal, Type 5	Decreased muscle mass, Kyphosis, Distal arthrogryposis, Firm muscles, Scoliosis, Congenital finge...	OMIM:108145
Incontinentia Pigmenti	Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Breast aplasia, H...	OMIM:308300
Hyperekplexia-Epilepsy Syndrome	EEG with temporal focal spikes, Exaggerated startle response, Hypertonia	ORPHA:163985
Mitochondrial Dna Depletion Syndrome 19	Spasticity, Myoclonus, Tetraparesis	OMIM:618972
Alg1-Cdg	Cerebellar atrophy, Kyphosis, Scoliosis, Cerebral atrophy	ORPHA:79327
Clark-Baraitser syndrome	Macroorchidism, Kyphosis, Obesity, Scoliosis	OMIM:300602
Noonan Syndrome 6	Sparse hair, Curly hair, Long eyebrows, Low posterior hairline	OMIM:613224
Citrullinemia Type Ii	Restlessness, Hyperactivity, Confusion, Abnormal eating behavior, Aggressive behavior, Tremor, Me...	ORPHA:247585
Bathing Suit Ichthyosis	Sparse hair, Alopecia, Nail dystrophy	ORPHA:100976
Porphyria, Acute Intermittent	Respiratory paralysis, Paralysis	OMIM:176000
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Sensorineural hearing impairment, Progressive neurologic deterioration	OMIM:214150
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn...	OMIM:146500
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Ataxia, Facial palsy, Tremor, Rigidity, Dilated cardiomyopathy, Gait ataxia, Depr...	ORPHA:254892
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Facial hypotonia, Kyphosis, Cryptorchidism, Scoliosis, Abnormality of muscle ...	ORPHA:364028
Pontocerebellar Hypoplasia, Type 7	Ataxia, Spastic paraplegia, Opisthotonus, Choreoathetosis, Hypertonia, Tongue fasciculations, Myo...	OMIM:614969
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Sparse hair, Hypoplastic nipples, Small nail	OMIM:273400
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Kyphosis, Optic atrophy, Platyspondyly, Neurodegeneration, Diff...	OMIM:618476
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Short stature, Myoclonus	OMIM:619060
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Incoordination, Ataxia, Ventricular septal defect, Progressive neurologic dete...	OMIM:614947
Developmental Malformations-Deafness-Dystonia Syndrome	Macroglossia, Kyphosis, Generalized dystonia, Scoliosis	ORPHA:79107
Neuraminidase Deficiency	Short stature, Slurred speech, Myoclonus, Dysmetria	OMIM:256550
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Fine hair, Fragile nails, Nail dystrophy, Small nail, Sparse hair, T...	OMIM:601675
Postencephalitic Parkinsonism	Resting tremor, Camptocormia, Oculogyric crisis, Akinesia, Kyphosis, Paresthesia, Tremor by anato...	ORPHA:97349
Fryns Microphthalmia Syndrome	Microphthalmia, Macrotia, Anophthalmia	OMIM:600776
Hyperlysinemia	Short attention span, Hyperactivity, Neck hypertonia, Poor motor coordination, Spastic tetrapares...	ORPHA:2203
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
17Q12 Microduplication Syndrome	Atrial septal defect, Self-injurious behavior, Microphthalmia	ORPHA:261272
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Fanconi Anemia, Complementation Group A	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Abnormal heart morphology, Neutropenia, Microp...	OMIM:227650
Temtamy Syndrome	Lop ear, Hypertonia, Low-set ears, Microphthalmia, Self-mutilation	OMIM:218340
Cockayne Syndrome B	Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Splenomegaly, Dec...	OMIM:133540
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Abnormal heart morphology, Attention deficit hyperactivity disorder, C...	ORPHA:404440
Igg4-Related Pachymeningitis	Paraparesis, Somatic sensory dysfunction	ORPHA:449427
Baraitser-Winter Syndrome 2	Microphthalmia, Abnormal pinna morphology, Hearing impairment	OMIM:614583
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Rigidity, Myoclonus	OMIM:300673
Arthrogryposis, Distal, Type 4	Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis,...	OMIM:609128
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Clonus, Abnormal pyramidal sign, Optic atrophy, Cardiomyopathy, Microphth...	ORPHA:370959
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Ventricular septal defect, Abnormal antihelix morphology, Low-set...	ORPHA:85194
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia, Decreased testicular size	OMIM:618086
Microcephaly, Amish Type	Myoclonus, Limb hypertonia	OMIM:607196
Pontocerebellar Hypoplasia, Type 2E	Short stature, Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonus, Spasticity	OMIM:615851
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Cockayne Syndrome A	Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Splenomegaly, Dec...	OMIM:216400
Temtamy Syndrome	Microphthalmia, Low-set ears	ORPHA:1777
Alexander Disease	Ataxia, Clonus, Facial palsy, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Depression, S...	ORPHA:58
Monosomy 18P	Generalized dystonia, Protruding ear, Abnormal antihelix morphology, Microphthalmia, Macrotia	ORPHA:1598
Sandifer Syndrome	Torticollis, Abnormal posturing	ORPHA:71272
Juvenile Sialidosis Type 2	Lower limb spasticity, Ataxia, Dysmetria, Myoclonus, Loss of ambulation, Spasticity	ORPHA:93399
Combined Oxidative Phosphorylation Deficiency 27	Chorea, Opisthotonus, Myoclonus, Tetraparesis, Dystonia	OMIM:616672
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Ataxia, Tremor, Abnormal pyramidal sign, Fine hair, Premature graying of hair, Abnormality of ext...	OMIM:612199
Alpha-Mannosidosis	Macroglossia, Kyphosis, Scoliosis, Short neck	ORPHA:61
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Confusion, Megaloblastic anemia, Tremor, Dementia, Abnormality of extrapyramidal motor function, ...	OMIM:277400
Rhizomelic Chondrodysplasia Punctata	Alopecia, Sparse body hair	ORPHA:177
Johnson Neuroectodermal Syndrome	Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes	ORPHA:2316
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sparse hair, Curly hair, Synophrys, Sparse eyebrow	OMIM:620075
Joubert Syndrome 37	Sparse hair, Oculomotor apraxia	OMIM:619185
Mucolipidosis Iii Gamma	Hyperlordosis, Kyphosis, Scoliosis, Short neck	OMIM:252605
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response, Facial-lingual fasciculations, Optic atrophy, Spasti...	OMIM:617281
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Optic disc pallor, Ataxia, Tremor, Sensorineural hearing impairment, Babinski sign, Spastic parap...	OMIM:618527
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,...	ORPHA:1010
Joubert Syndrome 22	Oculomotor apraxia, Microphthalmia	OMIM:615665
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair, Spasticity	OMIM:618253
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia	OMIM:224500
Emanuel Syndrome	Sacral dimple, Torticollis, Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Cerebral a...	OMIM:609029
Late Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Inability to walk, Gait disturbance, Myoclonus, Spasticity, Cortical myoclonus	ORPHA:168491
Sjögren-Larsson Syndrome	Kyphosis, Scoliosis	ORPHA:816
Adams-Oliver Syndrome 2	Optic atrophy, Protruding ear, Low-set ears, Microphthalmia, Limb hypertonia	OMIM:614219
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital diaphragmatic hernia...	ORPHA:2311
D-Glyceric Aciduria	Chorea, Myoclonus, Spasticity	ORPHA:941
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ...	OMIM:257980
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita	OMIM:617143
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto...	OMIM:183900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Microphthalmia	OMIM:613153
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis	ORPHA:83601
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Severe X-Linked Intellectual Disability, Gustavson Type	Severe postnatal growth retardation, Spasticity, Hypertonia, Myoclonus	ORPHA:3078
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Skeletal muscle atrophy, Ataxia, Tetraplegia, Growth delay, Fasciculations, Progressive spasticit...	ORPHA:496641
Spondyloepiphyseal Dysplasia Congenita	Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal...	ORPHA:94068
Mend Syndrome	Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Abnormal heart morpholog...	ORPHA:401973
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Growth delay, Myoclonus	ORPHA:168593
Parkinson Disease 21	Bradykinesia, Tremor, Rigidity, Parkinsonism	OMIM:616361
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Subaortic Stenosis-Short Stature Syndrome	Low-set, posteriorly rotated ears, Microphthalmia, Membranous subvalvular aortic stenosis, Subval...	ORPHA:3191
Desbuquois Dysplasia 1	Waddling gait, Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis	OMIM:251450
4Q21 Microdeletion Syndrome	Tremor, Kyphosis, Scoliosis, Short neck	ORPHA:238750
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Large for gestational age	OMIM:618272
Leigh Syndrome	Ataxia, Involuntary movements, Chorea, Spastic diplegia, Choreoathetosis, Athetosis, Growth delay...	ORPHA:506
Diastrophic Dysplasia	Camptodactyly of finger, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scolios...	ORPHA:628
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Protruding ear, Low-set ears, Microphthalmia, Hear...	ORPHA:85284
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Overweight, Kyphosis, Cryptorchidism, Flexion contracture, Gait disturbance, Hypogonadism, Scolio...	ORPHA:500055
Multiple Mitochondrial Dysfunctions Syndrome 1	Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor function, Myoclonus, Faci...	OMIM:605711
Crisponi Syndrome	Kyphosis, Flexion contracture, Camptodactyly of finger, Scoliosis	ORPHA:1545
Tetrasomy 12P	Sparse hair, Sparse eyebrow	ORPHA:884
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Argininemia	Progressive spastic quadriplegia, Frequent falls, Spastic gait, Spastic paraparesis	OMIM:207800
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Abnormal antihelix morphology, Large earlobe, Low-set ears, Microphthalmia	ORPHA:1438
Xeroderma Pigmentosum, Complementation Group B	Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Mic...	OMIM:610651
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Ataxia, Short stature, Inability to walk, Vocal cord paralysis, Growth del...	OMIM:617799
Fanconi Anemia, Complementation Group F	Conductive hearing impairment, Anemia, Leukopenia, Microtia, Atrial septal defect, Microphthalmia...	OMIM:603467
Camurati-Engelmann Disease	Waddling gait, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, ...	ORPHA:1328
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis	ORPHA:397744
Harrod Syndrome	Kyphosis, Cryptorchidism, Scoliosis, Failure to thrive, Cerebral cortical atrophy	ORPHA:2115
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp...	OMIM:190350
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Ataxia, Head titubation, Kyphosis, Optic atrophy, Dysmetria, Knee flexion con...	OMIM:619708
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Dystonia	OMIM:614105
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos, Simple ear	OMIM:619318
Dystonia-Aphonia Syndrome	Unsteady gait, Gait disturbance, Myoclonus	ORPHA:412217
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Baraitser-Winter Syndrome 1	Bicuspid aortic valve, Sensorineural hearing impairment, Overfolded helix, Low-set ears, Micropht...	OMIM:243310
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair	OMIM:607626
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Spasticity, Ataxia, Myoclonus, Abnormality of extrapyramidal motor function	OMIM:614299
Becker Nevus Syndrome	Shoulder girdle muscle atrophy, Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Sparse ...	ORPHA:217346
Developmental And Epileptic Encephalopathy 31B	Appendicular spasticity, Involuntary movements, Clonus, Opisthotonus, Myoclonus	OMIM:620352
Tay-Sachs Disease	Psychomotor deterioration, Exaggerated startle response, Dementia, Hypertonia	OMIM:272800
Hartsfield Syndrome	Low-set, posteriorly rotated ears, Microphthalmia	ORPHA:2117
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Decreased testicular size, Cryptorchidism	OMIM:615433
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Onychotrichodysplasia And Neutropenia	Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo...	OMIM:258360
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail...	OMIM:106260
Lamellar Ichthyosis	Sparse hair, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow	ORPHA:313
Fanconi Anemia, Complementation Group C	Pancytopenia, Ventricular septal defect, Thrombocytopenia, Reticulocytopenia, Neutropenia, Microp...	OMIM:227645
Postpoliomyelitis Syndrome	Skeletal muscle atrophy, Fasciculations	ORPHA:2942
Cockayne Syndrome Type 3	Optic disc pallor, Progressive neurologic deterioration, Splenomegaly, Unsteady gait, Cardiomyopa...	ORPHA:90324
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails	ORPHA:77258
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Kyphosis, Obesity, Abdominal obesity, Oligomenorrhea, Biconcave vertebra...	OMIM:219090
Neurodevelopmental Disorder With Spasticity And Poor Growth	Ataxia, Clonus, Short stature, Babinski sign, Opisthotonus, Growth delay, Limb hypertonia, Myoclo...	OMIM:618076
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Premature ovarian insufficiency, Ataxia, Hypergonadotropic hypogonadism, Trem...	OMIM:212065
Mucopolysaccharidosis Type 4	Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait disturbance, Scol...	ORPHA:582
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Posteriorly rotated ears, Rigidity, Babinski sign, Abnormal pyramid...	OMIM:617527
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosis, Transpo...	OMIM:253800
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse hair, Sparse eyelashes, Sparse eyebrow	OMIM:224900
Frank-Ter Haar Syndrome	Kyphosis, Beaking of vertebral bodies, Camptodactyly of finger, Scoliosis	ORPHA:137834
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Patchy alopecia	OMIM:617763
Pseudoachondroplasia	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,...	OMIM:177170
Fanconi Anemia, Complementation Group D2	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Abnormal heart morphology, Attention deficit h...	OMIM:227646
Cutis Laxa, Autosomal Recessive, Type Iiia	Sparse hair, Athetosis	OMIM:219150
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Diastasis recti, Short neck, Hypoplasia of the odon...	OMIM:253220
Rheumatic Fever	Hemiballismus, Chorea, Gait disturbance, Fasciculations	ORPHA:3099
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Tremor, Anemia, Neutropenia, Lethargy, Thrombocytopenia	OMIM:251100
Bruck Syndrome	Kyphosis, Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis	ORPHA:2771
Ruvalcaba Syndrome	Kyphosis, Scoliosis, Cryptorchidism	OMIM:180870
2P15P16.1 Microdeletion Syndrome	Facial palsy, Camptodactyly of finger, Optic nerve hypoplasia, Kyphosis, Optic atrophy, Gait dist...	ORPHA:261349
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Aggressive behavior, Inability to walk, Difficulty walking, Low-set ea...	ORPHA:464738
Brain-Lung-Thyroid Syndrome	Incoordination, Ataxia, Involuntary movements, Short stature, Chorea, Clumsiness, Choreoathetosis...	ORPHA:209905
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Ataxia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair	OMIM:127550
Chromosome Xq27.3-Q28 Duplication Syndrome	Sparse body hair	OMIM:300869
Mucopolysaccharidosis, Type Ivb	Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Plat...	OMIM:253010
Cerebrooculofacioskeletal Syndrome 4	Posteriorly rotated ears, Bilateral microphthalmos, Abnormal heart morphology, EEG abnormality, H...	OMIM:610758
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Small for gestational age, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvatur...	ORPHA:93360
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Myoclonus, Dystonia	OMIM:617669
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Sparse hair, Alopecia, Fragile nails	OMIM:242150
Deafness, X-Linked 7	Atresia of the external auditory canal, Posteriorly rotated ears, Unilateral microphthalmos, Hear...	OMIM:301018
Trisomy 10P	Poor motor coordination, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with ...	ORPHA:171929
Full Schwannomatosis	Hypoesthesia, Paresthesia, Fasciculations	ORPHA:93921
Heart And Brain Malformation Syndrome	Attached earlobe, Ventricular septal defect, Posteriorly rotated ears, Low-set ears, Microphthalm...	OMIM:616920
Developmental And Epileptic Encephalopathy 89	Hyperkinetic movements, Hypertonia, Tetraparesis, Dystonia, Spasticity	OMIM:619124
Intellectual Developmental Disorder, Autosomal Dominant 45	Chorea, Cerebral palsy, Myoclonus	OMIM:617600
Mucopolysaccharidosis Type 6	Ovoid vertebral bodies, Short neck, Kyphosis, Macroglossia, Failure to thrive	ORPHA:583
Aicardi-Goutières Syndrome	Extrapyramidal muscular rigidity, Dystonia, Cardiomegaly, Neonatal alloimmune thrombocytopenia, T...	ORPHA:51
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Exaggerated startle response, Rigidity, Sensorineural hearing ...	ORPHA:521426
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Hyperconvex nail	OMIM:619721
Hyperglycinemia, Lactic Acidosis, And Seizures	Spastic tetraplegia, Growth delay, Myoclonus	OMIM:614462
Cerebrooculofacioskeletal Syndrome 2	Sparse hair	OMIM:610756
Listeriosis	Brain abscess, Pericarditis, Liver abscess, Ataxia, Abscess, Tremor, Myocarditis, Abnormal cellul...	ORPHA:533
D-Glyceric Aciduria	Spastic tetraplegia, Opisthotonus, Growth delay, Myoclonus, Spasticity	OMIM:220120
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Microtia	ORPHA:2547
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Prominent protruding coc...	OMIM:300966
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Cryptorchidism, Scoliosis, Male hypogonadism, Joint contracture	OMIM:615381
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Sparse hair, Nail dystrophy	ORPHA:98813
Encephalocraniocutaneous Lipomatosis	Alopecia, Paralysis, Abnormal eyelash morphology, Rigidity, Tetraplegia, Hemiparesis, Hypertonia,...	ORPHA:2396
Chromosome 5P13 Duplication Syndrome	Sparse hair, Low posterior hairline	OMIM:613174
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Abnormality of extrapyramidal m...	ORPHA:79255
Trichothiodystrophy	Ventricular septal defect, Bilateral microphthalmos, Increased mean corpuscular hemoglobin concen...	ORPHA:33364
Scheie Syndrome	Cerebral palsy, Spastic paraparesis	ORPHA:93474
Pediatric-Onset Graves Disease	Tremor, Intrauterine growth retardation, Hyperkinetic movements	ORPHA:525731
Pheochromocytoma/Paraganglioma Syndrome 3	Vocal cord paralysis	OMIM:605373
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Sparse hair, Alopecia, Abnormal fingernail morphology	ORPHA:659
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Spasticity, Vocal cord paralysis, Myoclonus, Dystonia	ORPHA:500144
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Congenital muscular torticollis, Kyphosis, Hemivertebrae, Abnormal form of the ...	ORPHA:2916
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck	ORPHA:2522
Fetal Alcohol Syndrome	Atrial septal defect, Microphthalmia, Low-set, posteriorly rotated ears, Cognitive impairment	ORPHA:1915
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp...	OMIM:305100
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Norrie Disease	Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, Hypoplasia of the iris, Bup...	OMIM:310600
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Spina bifida occulta, Hypogonadism, Short neck	ORPHA:2983
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Sparse lateral eyebrow	OMIM:190351
Stevenson-Carey Syndrome	Atrial septal defect, Microphthalmia, Posteriorly rotated ears, Low-set ears	OMIM:611961
Incontinentia Pigmenti	Eosinophilia, Hemiplegia/hemiparesis, Gait disturbance, Cognitive impairment, Attention deficit h...	ORPHA:464
Unilateral Polymicrogyria	Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb...	ORPHA:268943
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Clonus, Optic atrophy, Hypertonia, Low-set ears, Dysphagia	OMIM:617301
Early Infantile Epileptic Encephalopathy	Hyperactivity, Ventricular septal defect, Tremor, EEG with burst suppression, Hypsarrhythmia, Cho...	ORPHA:1934
Galloway-Mowat Syndrome 1	Ataxia, Optic atrophy, Spastic tetraplegia, Hypoplasia of the iris, Low-set ears, Dystonia, Micro...	OMIM:251300
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Thoracolumbar scoliosis, Congenital diaphragmatic hernia, Short neck...	OMIM:265000
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonus, Dystonia	OMIM:618321
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Spermatogenic Failure 14	Male infertility, Azoospermia	OMIM:615842
Frontonasal Dysplasia 3	Microphthalmia, Posteriorly rotated ears, Low-set ears	OMIM:613456
Cockayne Syndrome	High-frequency sensorineural hearing impairment, Optic disc pallor, Ataxia, Action tremor, Decrea...	ORPHA:191
Cog8-Cdg	Ataxia, Myoclonus	ORPHA:95428
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Rhizomelic Syndrome, Urbach Type	Kyphosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3098
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Dystonia, Athetoid cerebr...	ORPHA:522077
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection	OMIM:158310
Neutral Lipid Storage Myopathy	Short stature, Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscl...	ORPHA:98908
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Brittle hair, Poor coordination, Abnormal pyramidal sign, Fine hair, Ankle clonus, Dysdiadochokin...	OMIM:618891
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Cartilage-Hair Hypoplasia	Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair	OMIM:250250
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Supernumerary nipple, Synophrys, Hirsutism, Hypertonia, Long eyelashes, Th...	OMIM:615485
3M Syndrome	Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Decreased fert...	ORPHA:2616
Dpagt1-Cdg	EEG with generalized slow activity, Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to w...	ORPHA:86309
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Pain insensitivity, Tremor, Kyphosis, Scoliosis	OMIM:617061
Magel2-Related Prader-Willi-Like Syndrome	Impaired temperature sensation, Kyphosis, Cryptorchidism, Flexion contracture, Increased body wei...	ORPHA:398069
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
Marden-Walker Syndrome	Decreased muscle mass, Short neck, Kyphosis, Cryptorchidism, Congenital contracture, Scoliosis, C...	OMIM:248700
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Kyphosis, Optic atrophy, Abnormal form of the vertebral bodies, Gait dis...	ORPHA:192
Dyggve-Melchior-Clausen Disease	Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl...	OMIM:223800
Ectodermal Dysplasia-Blindness Syndrome	Sparse hair, Abnormal fingernail morphology, Fine hair	ORPHA:1806
Fatal Familial Insomnia	Ataxia, Myoclonus	OMIM:600072
Kufor-Rakeb Syndrome	Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br...	ORPHA:306674
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Ataxia, Fine hair, S...	ORPHA:2710
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Confusion, Tremor, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocyt...	OMIM:274150
Trisomy 20P	Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bod...	ORPHA:261318
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair	OMIM:268020
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ...	ORPHA:15
Borjeson-Forssman-Lehmann Syndrome	Sparse hair, Thick eyebrow	ORPHA:127
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Uplifted earlobe, Low-set ears, Atrial septal defect, Microphthalmia, ...	OMIM:616449
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Cupped ear, Microtia, Abnormal cardiac septum morphology, Myoclonus, Microphthalmia	ORPHA:1352
Oculofaciocardiodental Syndrome	Sensorineural hearing impairment, Mitral valve prolapse, Abnormal cardiac septum morphology, Micr...	ORPHA:2712
Gaucher Disease	Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Abnormal pericardium m...	ORPHA:355
19P13.12 Microdeletion Syndrome	Short neck, Kyphosis, Cryptorchidism, Obesity, Scoliosis, Arthrogryposis multiplex congenita	ORPHA:254346
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p...	ORPHA:508533
Cohen Syndrome	Ventricular septal defect, Sensorineural hearing impairment, Aplasia/Hypoplasia of the earlobes, ...	ORPHA:193
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis, Skeletal muscle atrophy, Knee flexion contracture	OMIM:603387
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Tremor, Kyphosis, Gait ataxia, Scoliosis, Failure to thrive	ORPHA:476126
Martsolf Syndrome 1	Posteriorly rotated ears, Clonus, Spastic diplegia, Cardiomyopathy, Low-set ears, Microphthalmia,...	OMIM:212720
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ataxia, Myoclonus	OMIM:560000
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Cupped ear, Low-set ears	OMIM:167730
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Sparse body hair	ORPHA:2234
Kapur-Toriello Syndrome	Posteriorly rotated ears, Ventricular septal defect, Atresia of the external auditory canal, Low-...	ORPHA:2328
Prader-Willi Syndrome	Decreased muscle mass, Failure to thrive in infancy, Hypogonadotropic hypogonadism, Impaired pain...	OMIM:176270
Microcephaly-Capillary Malformation Syndrome	Short stature, Myoclonus, Spastic tetraparesis	OMIM:614261
Chromosome 13Q33-Q34 Deletion Syndrome	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Pulmonic stenosis, Left ventricular...	OMIM:619148
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Attention deficit hyperactivity disorder	OMIM:617914
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:2655
Congenital Disorder Of Glycosylation, Type Iia	Hirsutism, Hypertonia, Long eyelashes, Sparse hair, Thick eyebrow	OMIM:212066
Holoprosencephaly	Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology, External ear malfor...	ORPHA:2162
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Bilateral cryptorchidism, Kyphosis, Flexion contracture, Abnormal form of the ve...	ORPHA:3042
Ciliary Dyskinesia, Primary, 9	Male infertility	OMIM:612444
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Sensorineural hearing impairment, Abnormally large globe	OMIM:615249
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Sparse hair, Alopecia, Abnormal toenail morphology	ORPHA:1005
Papillon-Lefèvre Syndrome	Abnormal fingernail morphology, Nail dystrophy, Abnormality of the nail, Sparse body hair, Genera...	ORPHA:678
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Large for gestational age, Hyperlordosis, Kyphosis, Gait ataxia, Scoliosis, C...	OMIM:617011
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Bartsocas-Papas Syndrome 2	Microphthalmia, Overfolded helix, Low-set ears	OMIM:619339
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Rhabdomyolysis, Growth de...	ORPHA:17
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair	OMIM:613451
Short Stature, Microcephaly, And Endocrine Dysfunction	Ataxia, Dysmetria, Dysdiadochokinesis, Apraxia, Sparse hair	OMIM:616541
Weaver Syndrome	Deep-set nails, Thin nail, Slurred speech, Fine hair, Poor fine motor coordination, Hypertonia, S...	OMIM:277590
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Ventricular septal defect, Hearing impairment	ORPHA:77298
Nance-Horan Syndrome	Microphthalmia, Protruding ear	ORPHA:627
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair	OMIM:614091
Chromosome 19Q13.11 Deletion Syndrome, Distal	Sparse hair, Nail dysplasia, Sparse eyelashes, Sparse eyebrow	OMIM:613026
Ciliary Dyskinesia, Primary, 14	Male infertility, Reduced sperm motility, Immotile sperm	OMIM:613807
Cutis Laxa, Autosomal Recessive, Type Iiib	Sparse hair, Athetosis, Fine hair	OMIM:614438
Sialuria	Hyperkinetic movements	ORPHA:3166
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Sparse body hair, Dys...	OMIM:150400
Ciliary Dyskinesia, Primary, 18	Male infertility, Immotile sperm	OMIM:614874
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Kyphosis, Limb hypertonia	OMIM:619909
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Oculomotor apraxia, Low posterio...	OMIM:115150
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Flexion contracture of finger, Small for gestational age, Ankle flexion contra...	ORPHA:464311
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis	ORPHA:37553
Joubert Syndrome 2	Ataxia, Optic disc coloboma, Low-set ears, Oculomotor apraxia, Microphthalmia	OMIM:608091
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails...	ORPHA:1071
Fucosidosis	Kyphosis, Decreased muscle mass, Failure to thrive, Anterior beaking of lumbar vertebrae	ORPHA:349
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Hypertonia	OMIM:300607
Combined Oxidative Phosphorylation Deficiency 57	Myoclonus, Dystonia	OMIM:620167
Sting-Associated Vasculopathy, Infantile-Onset	Sparse hair, Nailfold capillary tortuosity, Nail dystrophy, Periungual erythema	OMIM:615934
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Asplenia, Low-set ears,...	ORPHA:99776
Rett Syndrome, Congenital Variant	Kyphosis, Chorea, Athetosis, Scoliosis, Dystonia	OMIM:613454
Multiple Endocrine Neoplasia, Type Iib	Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Pheochromocytoma, Scoliosis, Gan...	OMIM:162300
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Cryptorchidism, Kyphosis, Short neck	ORPHA:3082
Ruijs-Aalfs Syndrome	Premature graying of hair, Sparse hair	OMIM:616200
Tsh-Secreting Pituitary Adenoma	Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Decreased fertility ...	ORPHA:91347
Foxg1 Syndrome Due To 14Q12 Microdeletion	Macroglossia, Kyphosis, Scoliosis	ORPHA:261144
Biotinidase Deficiency	Ataxia, Hypotonia, Spastic paraparesis	ORPHA:79241
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Low posterior hairline, Fine hair, ...	ORPHA:1340
Hydrolethalus	Low-set, posteriorly rotated ears, Microphthalmia, Anophthalmia, Low-set ears	ORPHA:2189
Otodental Syndrome	High-frequency sensorineural hearing impairment, Microphthalmia, Lens coloboma, Progressive senso...	ORPHA:2791
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, Kyphosis, Gait...	ORPHA:457359
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline	OMIM:250410
Gm1-Gangliosidosis, Type I	Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Cerebral degeneration, Beaking of ...	OMIM:230500
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ataxia, Myoclonus, Dystonia	OMIM:619167
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis, Cryptorchidism	ORPHA:3121
Vici Syndrome	Postnatal growth retardation, Myopathy, Abnormal posturing, Left ventricular hypertrophy	OMIM:242840
Epidermal Nevus Syndrome	Babinski sign, Progressive spastic paraparesis, Hypertonia	ORPHA:35125
Peho Syndrome	Myoclonus	OMIM:260565
Mandibuloacral Dysplasia	Sparse hair, Alopecia, Hypoplastic fingernail	ORPHA:2457
Galloway-Mowat Syndrome 10	Myoclonus	OMIM:619609
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis, Truncal obesity, Skeletal muscle atrophy	OMIM:219080
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Progressive neurologic deterioration, Tremor, Rigidity, Dementia, Hypertonia, Spasticity	OMIM:176500
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair	OMIM:608612
Jacobsen Syndrome	Ventricular septal defect, Optic atrophy, Macular hypoplasia, Low-set ears, Atrial septal defect,...	OMIM:147791
Noonan Syndrome 14	Sparse hair, Curly hair, Sparse eyebrow, Low posterior hairline	OMIM:619745
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Sparse hair, Coarse hair, Thick hair, Spasticity	ORPHA:357074
Neuroleptic Malignant Syndrome	Extrapyramidal muscular rigidity, Oculogyric crisis, Tremor, Leukocytosis, Chorea, Agitation, Abn...	ORPHA:94093
Megalocornea-Intellectual Disability Syndrome	Kyphosis, Ataxia, Scoliosis	ORPHA:2479
Stickler Syndrome, Type I	Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist...	OMIM:108300
Congenital Heart Defects And Skeletal Malformations Syndrome	Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Scoliosis, Camptodactyly, Failure to t...	OMIM:617602
Myoclonic Epilepsy Of Lafora	Gait disturbance, Myoclonus, Apraxia	OMIM:254780
Mucopolysaccharidosis, Type Ii	Papilledema, Short neck, Kyphosis, Flexion contracture, Macroglossia, Neurodegeneration	OMIM:309900
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Obesity	ORPHA:261222
Fanconi Anemia, Complementation Group R	Microphthalmia, Anemia	OMIM:617244
Short Syndrome	Sparse hair, Alopecia	ORPHA:3163
1Q21.1 Microdeletion Syndrome	Sensorineural hearing impairment, Depression, Abnormal cardiac septum morphology, Attention defic...	ORPHA:250989
Aredyld Syndrome	Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:1133
Scarf Syndrome	Sparse hair, Hypoplastic nipples, Low posterior hairline	ORPHA:3134
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Broad-based gait, Exaggerated startle response, Bicuspid aortic valve, Ventric...	ORPHA:438213
Fabry Disease	Left ventricular hypertrophy, Paresthesia, Fasciculations, Delayed puberty	OMIM:301500
Hurler Syndrome	Short neck, Hypoplasia of the odontoid process, Kyphosis, Flexion contracture, Macroglossia, Neur...	OMIM:607014
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small hypothenar eminence, Lumbar hyperlordosis, Streak ovary, Hypergonadotropic hypogonadism, Th...	ORPHA:2232
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ...	OMIM:268400
Macs Syndrome	Sparse hair, Alopecia, Sparse eyebrow	OMIM:613075
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Sparse hair, Lower limb spasticity, Hypertonia, Fine hair	ORPHA:251028
Pheochromocytoma/Paraganglioma Syndrome 1	Vocal cord paralysis	OMIM:168000
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Hypotonia, Spastic paraparesis	OMIM:619234
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Thrombocytopenia, Microtia, Low-set ears, Atrial sept...	OMIM:620005
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia, Abnormal spleen morphology, Low-set ears	ORPHA:2470
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Microtia, Ventricular septal defect, Low-set ears	OMIM:612530
Cat Eye Syndrome	Ventricular septal defect, Hypoplastic left heart, Total anomalous pulmonary venous return, Pulmo...	OMIM:115470
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Posteriorly rotated ears, Complete atrioventricular cana...	OMIM:264480
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Thanatophoric Dysplasia Type 2	Kyphosis, Platyspondyly	ORPHA:93274
Walker-Warburg Syndrome	Anophthalmia, Posteriorly rotated ears, Optic atrophy, Protruding ear, Low-set ears, Microphthalmia	ORPHA:899
Trisomy 9P	Kyphosis, Sacral dimple, Scoliosis, Short neck	ORPHA:236
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Hypoplastic spleen, Asplenia	OMIM:602361
Hawkinsinuria	Sparse hair	OMIM:140350
Congenital Disorder Of Deglycosylation 1	Involuntary movements, Chorea, Dysmetria, Athetosis, Hyperkinetic movements, Myoclonus, Action tr...	OMIM:615273
Naxos Disease	Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S...	OMIM:601214
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Low-set ears	OMIM:300863
Micro Syndrome	Low-set, posteriorly rotated ears, Optic atrophy, Microphthalmia, Spasticity, Macrotia	ORPHA:2510
Dysostosis, Stanescu Type	Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis	ORPHA:1798
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Spasticity, Myoclonus	OMIM:612949
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Low-set ears	ORPHA:228390
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Chorea, Athetosis, Hyperkinetic movements, Myoclonus, Dystonia, Oculomotor apraxia, Lingual dysto...	ORPHA:404454
Nablus Mask-Like Facial Syndrome	Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,...	OMIM:608156
Kapur-Toriello Syndrome	Ventricular septal defect, Conductive hearing impairment, Low-set ears, Atrial septal defect, Mic...	OMIM:244300
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Posteriorly rotated ears, Low-set ears	OMIM:206920
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Small for gestational age, Kyphosis, Cryptorchidism, Hypotrophy ...	OMIM:610443
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse hair, Patchy alopecia, Sparse eyelashes, Sparse eyebrow	OMIM:302960
Dubowitz Syndrome	Short attention span, Hyperactivity, Aplastic anemia, Protruding ear, Hypoplasia of the iris, Acu...	OMIM:223370
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Sensorineural hearing impairment, Anophthalmia	ORPHA:139471
Warburg Micro Syndrome 2	Asymmetry of the ears, Optic atrophy, Spastic diplegia, Microphthalmia, Macrotia	OMIM:614225
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Multiple joint contractures, Small for gestational age, Kyphosis, Cryptorchidi...	ORPHA:464306
Genitopalatocardiac Syndrome	Kyphosis, Congenital diaphragmatic hernia, Scoliosis, Cryptorchidism	ORPHA:2075
Hyperphosphatasia-Intellectual Disability Syndrome	Ataxia, Growth delay, Gait disturbance, Myoclonus, Oculomotor apraxia	ORPHA:247262
Hurler-Scheie Syndrome	Camptodactyly of finger, Thenar muscle atrophy, Kyphosis, Contracture of the distal interphalange...	OMIM:607015
Multiple Pterygium-Malignant Hyperthermia Syndrome	Congenital muscular torticollis, Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Cryp...	ORPHA:2215
Microphthalmia, Lenz Type	Low-set, posteriorly rotated ears, External ear malformation, Optic disc coloboma, Self-injurious...	ORPHA:568
Congenital Sialidosis Type 2	Spasticity, Ataxia, Myoclonus, Dysmetria	ORPHA:93400
3Q29 Microduplication Syndrome	Ventricular septal defect, Low-set ears, Aniridia, Microphthalmia, Hearing impairment	ORPHA:251038
Microphthalmia, Syndromic 9	Anophthalmia, Ventricular septal defect, Bilateral microphthalmos, Hypoplastic left atrium, Multi...	OMIM:601186
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Intellectual Developmental Disorder, Autosomal Dominant 57	Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Tip-toe gait, Scol...	OMIM:618050
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Microphthalmia, Microtia, Hearing impairment	ORPHA:2728
Fountain Syndrome	Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3219
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypertrophic cardiomyopathy	OMIM:619053
Hamamy Syndrome	Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Abnormal number of hair wh...	OMIM:611174
Hallermann-Streiff Syndrome	Hyperactivity, Optic disc coloboma, Choreoathetosis, Low-set ears, Microphthalmia	OMIM:234100
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Corpus callosum atrophy, Kyphosis, Cerebral atrophy, Cryptorchidism	OMIM:619244
Histiocytoid Cardiomyopathy	Ventricular septal defect, Cardiomegaly, Congenital aphakia, Optic atrophy, Hemiplegia, Microphth...	ORPHA:137675
Goldberg-Shprintzen Syndrome	Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow, Limb hypertonia	OMIM:609460
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Spasticity, Myoclonus	OMIM:246450
3C Syndrome	Short neck, Kyphosis, Optic atrophy, Hemivertebrae, Scoliosis	ORPHA:7
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Sparse eyelashes, Fine hair	OMIM:257850
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae	ORPHA:958
Distal Triplication 15Q	Large for gestational age, Kyphosis, Flexion contracture, Hydrocele testis, Scoliosis, Camptodactyly	ORPHA:314588
Eales Disease	Spastic paraparesis	ORPHA:40923
Nasopalpebral Lipoma-Coloboma Syndrome	Abnormality of cartilage of external ear, Bilateral microphthalmos, Cupped ear, Low-set ears, Mic...	ORPHA:2399
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Postural tremor, Ataxia, Short stature, Babinski sign, Lower limb hypertonia, Myoclonus, Truncal ...	OMIM:301072
Osteogenesis Imperfecta, Type Xx	Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow	OMIM:618644
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Conductive hearing impairment, Atrial septal defect, Small earlobe, Dep...	ORPHA:567
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis, Limb hypertonia	OMIM:617190
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Posteriorly rotated ears, Optic nerve hypoplasia, Low-set ears	OMIM:607597
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Microphthalmia	OMIM:614526
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Coarse hair, Sparse...	OMIM:617506
Scarf Syndrome	Sparse hair, Low anterior hairline, Hypoplastic nipples, Low posterior hairline	OMIM:312830
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre...	OMIM:230740
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Short neck, Kyphosis, Cryptorchidism, Scoliosis, Biconca...	OMIM:130720
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoli...	ORPHA:2789
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, Irritability, Hypertonia, Dysphagia, Spasticity, EEG with generaliz...	OMIM:618367
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Posteriorly rotated ears, Microphthalmia, Congenital sensorineural hearing impairment	OMIM:617306
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Familial Exudative Vitreoretinopathy	Microphthalmia, Abnormal optic disc morphology, Hearing impairment	ORPHA:891
Degcags Syndrome	Oral-pharyngeal dysphagia, Vocal cord paralysis, Leukopenia, Iron deficiency anemia, Atrial septa...	OMIM:619488
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Kyphosis, Cryptorchidism, Hemivertebrae, Cerebral atrophy, Macroglossia, Scoliosis	OMIM:301040
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Sensorineur...	OMIM:206900
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Low-set ears	ORPHA:163966
Cono-Spondylar Dysplasia	Kyphosis, Failure to thrive, Scoliosis, Short neck	ORPHA:420794
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Low anterior hairline, Low posterior hairline, Gait ...	OMIM:601358
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Coarse hair	OMIM:118650
Marshall Syndrome	Sparse hair, Sparse eyelashes, Sparse eyebrow	ORPHA:560
Agel Amyloidosis	Sparse hair, Ataxia, Nail dystrophy	ORPHA:85448
Wolf-Hirschhorn Syndrome	Sacral dimple, Ataxia, Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Optic atrophy, ...	ORPHA:280
Gitelman Syndrome	Ataxia, Paralysis	OMIM:263800
Meckel Syndrome, Type 4	Atrial septal defect, Microphthalmia, Ventricular septal defect	OMIM:611134
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Sensorineural hearing impairment, Abnormal pinna morphology, Low-set ears	ORPHA:35173
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Broad-based gait, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Progressive gait ataxia, Myoclon...	OMIM:607459
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Scoliosis	OMIM:259420
Alstrom Syndrome	Hypergonadotropic hypogonadism, Kyphosis, Irregular menstruation, Truncal obesity, Scoliosis	OMIM:203800
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Tongue fasciculations	OMIM:608800
Pelvis-Shoulder Dysplasia	Waddling gait, Bilateral microphthalmos, Abnormal pinna morphology, Microtia	ORPHA:2839
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Cachexia, Scoliosis, Skeletal muscle atrophy	ORPHA:1969
Focal Dermal Hypoplasia	Ventricular septal defect, Hypoplasia of the iris, Abnormal cardiac septum morphology, Cognitive ...	ORPHA:2092
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Aganglionic megacolon, External ear malformation, Apl...	ORPHA:84
Oculocerebrorenal Syndrome Of Lowe	Low-set, posteriorly rotated ears, Clonus, Depression, Buphthalmos, Self-injurious behavior, Anem...	ORPHA:534
Cowden Syndrome 5	Hydrocele testis, Kyphosis, Scoliosis, Intention tremor	OMIM:615108
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Large earlobe, Hypertonia, Cognitive impairment, Hypoplasia of the ear cartilage, Microphthalmia	ORPHA:1236
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Hypoplasia of the iris, Subvalvular aortic stenosis, Atrial septal def...	OMIM:613001
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog...	ORPHA:1775
Trisomy 18	Low-set, posteriorly rotated ears, Ventricular septal defect, Pointed helix, Hypertonia, Cognitiv...	ORPHA:3380
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body...	ORPHA:2108
Fanconi Anemia, Complementation Group L	Anotia, Microtia, Attention deficit hyperactivity disorder, Low-set ears, Microphthalmia, Anemia	OMIM:614083
Complete Androgen Insensitivity Syndrome	Male infertility, Testicular neoplasm, Bilateral cryptorchidism, Primary amenorrhea, Delayed puberty	ORPHA:99429
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma	OMIM:169550
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic hypokalemic paresis, Periodic paralysis	OMIM:170390
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Ataxia, Paralysis, Hypertonia, Myoclonus, Tetraparesis	OMIM:203700
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Ventricular septal defect, Facial palsy, Aganglionic megacolon, Sensorineu...	OMIM:607323
Glass Syndrome	Sparse hair, Long eyelashes, Nail dysplasia	OMIM:612313
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Sparse body hair	ORPHA:3068
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Rigidity, Optic atrophy, Spasticity, Protruding ear, Hypertonia, Atrial septal defe...	ORPHA:2526
9P13 Microdeletion Syndrome	Short stature, Myoclonus, Hand tremor	ORPHA:324313
Marfanoid Habitus With Situs Inversus	Kyphosis, Scoliosis	OMIM:609008
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis	ORPHA:363618
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	ORPHA:50814
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma	ORPHA:1553
Split Cord Malformation	Paraparesis	ORPHA:573278
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Broad-based gait, Torticollis, Ataxia, Isometric tremor, Dystonia, Overweight, Kyphosi...	OMIM:619475
Cranioectodermal Dysplasia 3	Sparse hair, Short nail, Broad nail, Fine hair	OMIM:614099
Woodhouse-Sakati Syndrome	Alopecia, Fine hair, Choreoathetosis, Abnormality of extrapyramidal motor function, Sparse hair	OMIM:241080
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Optic nerve hypoplasia, Fac...	ORPHA:508498
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Posteriorly rotated ears, Low-set ears	OMIM:241410
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia, Macrotia, Low-set ears	OMIM:615145
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Kyphosis, Camptodactyly of finger, Scoliosis, Cryptorchidism	OMIM:619951
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Posteriorly rotated ears, Spastic tetraparesis, Abnormal pinna morphol...	OMIM:616975
Cowden Syndrome 6	Hydrocele testis, Kyphosis, Scoliosis, Intention tremor	OMIM:615109
White-Sutton Syndrome	Sparse hair	OMIM:616364
47,Xyy Syndrome	Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism	ORPHA:8
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Myoclonus, Gait ataxia	ORPHA:70595
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Developmental And Epileptic Encephalopathy 2	Inability to walk, Myoclonus	OMIM:300672
Pycnodysostosis	Hyperlordosis, Overweight, Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis	ORPHA:763
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Severe short stature, Abnormal pyramidal sign, Hypertonia, Hyperkinetic movements, Intrauterine g...	ORPHA:468631
Pineoblastoma	Paralysis	ORPHA:251909
Neuroblastoma, Susceptibility To, 1	Ataxia, Myoclonus	OMIM:256700
Lafora Disease	Ataxia, Inability to walk, Gait disturbance, Myoclonus, Erratic myoclonus, Spasticity	ORPHA:501
Koolen-De Vries Syndrome	Vertebral fusion, Kyphosis, Cryptorchidism, Vertebral segmentation defect, Scoliosis	ORPHA:96169
Ciliary Dyskinesia, Primary, 19	Male infertility	OMIM:614935
Bone Marrow Failure Syndrome 3	Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dystrophy, Small nail	OMIM:617052
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Irritability, Hypertonia	ORPHA:1578
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Cryptorchidism, Left ventricular noncompaction, Scolios...	OMIM:300967
Opitz-Kaveggia Syndrome	Sparse hair, Spasticity, Frontal upsweep of hair, Fine hair	OMIM:305450
Combined Oxidative Phosphorylation Deficiency 11	Tongue fasciculations, Myoclonus	OMIM:614922
Ritscher-Schinzel Syndrome 3	Microphthalmia, Atrioventricular canal defect	OMIM:619135
X-Linked Intellectual Disability, Snyder Type	Decreased muscle mass, Kyphoscoliosis, Inability to walk, Kyphosis, Unsteady gait, Cryptorchidism...	ORPHA:3063
Orofaciodigital Syndrome Type 3	Oculomotor apraxia, Spasticity, Myoclonus	ORPHA:2752
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Impaired pain sensation, Cryptorchidism, Kyphosis, Scoliosis, Decreased body weight	OMIM:619005
Cerebellar-Facial-Dental Syndrome	Sparse hair, Limb hypertonia, Sparse eyebrow, Fine hair	ORPHA:444072
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Aplasia of the eccrine sweat glands	OMIM:300291
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
Marshall-Smith Syndrome	Thoracic scoliosis, Optic nerve hypoplasia, Kyphoscoliosis, Bilateral cryptorchidism, Hypoplasia ...	OMIM:602535
African Trypanosomiasis	Papilledema, Pericarditis, Abnormal central motor function, Involuntary movements, Akinesia, Aggr...	ORPHA:3385
Opsoclonus-Myoclonus Syndrome	Rigidity, Limb myoclonus, Ataxia, Myoclonus	ORPHA:1183
Rothmund-Thomson Syndrome	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small nail, Nail dysplasia, Sparse hair, Abno...	ORPHA:2909
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Microtia, Optic atrophy	ORPHA:3301
Teebi-Shaltout Syndrome	Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair	OMIM:272950
Down Syndrome	Sparse hair	ORPHA:870
Paternal Uniparental Disomy Of Chromosome 1	Short stature, Myoclonus, Delayed puberty	ORPHA:251004
Fryns Syndrome	Low-set, posteriorly rotated ears, Aganglionic megacolon, Abnormal cardiac septum morphology, Mic...	ORPHA:2059
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Kyphosis, Platyspondyly, Lumbar hyperlordosis, Irregular menstruation	OMIM:616482
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis, Truncal obesity, Secondary amenorrhea	OMIM:610489
2Q31.1 Microdeletion Syndrome	Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Optic disc coloboma, Vertebral seg...	ORPHA:251014
Norrie Disease	Aplasia/Hypoplasia of the lens, Clonus, Sensorineural hearing impairment, Optic atrophy, Protrudi...	ORPHA:649
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis	OMIM:259730
Hurler Syndrome	Cerebral palsy, Abnormal pyramidal sign, Hypotonia, Spastic paraparesis	ORPHA:93473
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Spastic tetraplegia, Intrauterine growth retardation, Clonus, Myoclonus	OMIM:619055
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Mixed hearing impairment, Aplasia of the thymus, Facial palsy, Progressive sensorineural hearing ...	OMIM:620186
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Kid Syndrome	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Trichilemmoma, Nail dystrophy, Spar...	ORPHA:477
Immunodeficiency 23	Ataxia, Myoclonus, Cortical myoclonus	OMIM:615816
Menkes Disease	Hypopigmentation of hair, Chorea, Hypertonia, Sparse hair, Woolly hair, Spasticity	ORPHA:565
Mosaic Trisomy 1	Abnormal pinna morphology, Microphthalmia, Ventricular septal defect, Low-set ears	ORPHA:1692
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Loose anagen hair, Long eyelashes, Sparse hair	OMIM:607721
De Barsy Syndrome	Sparse hair, Athetosis, Progressive cerebellar ataxia	ORPHA:2962
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:1860
16Q24.3 Microdeletion Syndrome	Kyphosis, Optic nerve hypoplasia, Scoliosis, Cryptorchidism	ORPHA:261250
Monosomy 22	Sparse hair, Synophrys, Hypertonia	ORPHA:96123
Multiple Benign Circumferential Skin Creases On Limbs	Low-set, posteriorly rotated ears, Microphthalmia, External ear malformation	ORPHA:2505
Myhre Syndrome	Ventricular septal defect, Ataxia, Pericardial effusion, Microtia, Low-set ears, Atrial septal de...	OMIM:139210
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Broad-based gait, Ataxia, Small for gestational age, Failure to thrive in infancy,...	ORPHA:268261
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Overfolded helix, Posteriorly rotated ears, Low-set ears	OMIM:156610
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Sparse hair, Nail dysplasia, Breast hypoplasia, Small nail	OMIM:614813
Combined Oxidative Phosphorylation Deficiency 14	Growth delay, Myoclonus	OMIM:614946
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Primary testicular failure, Oligozoospermia, Myopathy, Hypogonadism, Abnormal t...	ORPHA:85450
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas...	OMIM:181270
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Mosaic Variegated Aneuploidy Syndrome	Low-set, posteriorly rotated ears, Acute lymphoblastic leukemia, Subvalvular aortic stenosis, Atr...	ORPHA:1052
Cowden Syndrome 1	Hydrocele testis, Kyphosis, Scoliosis, Intention tremor	OMIM:158350
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Sensorineural hearing impairment, Low-set ears, Protruding ear	OMIM:614230
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis, Truncal obesity	OMIM:610475
Charge Syndrome	Low-set, posteriorly rotated ears, Anophthalmia, Facial palsy, Hearing impairment, External ear m...	ORPHA:138
Orofaciodigital Syndrome Iii	Myoclonus	OMIM:258850
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Ataxia, Tremor, Coarse hair, Sparse hair	ORPHA:2750
Aicardi Syndrome	Hemiplegia/hemiparesis, Optic disc coloboma, Optic atrophy, Protruding ear, EEG abnormality, Hype...	ORPHA:50
Scorpion Envenomation	Hemifacial spasm, Ataxia, Tremor, Hyperkinetic movements, Myoclonus	ORPHA:466677
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Paralysis, Spastic paraplegia, Limb ataxia, Azoospermia, Hypertonia, Oculomotor apraxia	ORPHA:2072
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Whipple Disease	Abnormal pyramidal sign, Myoclonus, Ataxia	ORPHA:3452
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Sparse hair	OMIM:615349
Stromme Syndrome	Accessory spleen, Microphthalmia, Optic nerve hypoplasia, Low-set ears	OMIM:243605
Mgat2-Cdg	Kyphosis, Failure to thrive, Brain atrophy, Scoliosis	ORPHA:79329
8Q21.11 Microdeletion Syndrome	Microphthalmia, Low-set ears, Hearing impairment	ORPHA:284160
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai...	OMIM:129900
Marden-Walker Syndrome	Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies...	ORPHA:2461
Holt-Oram Syndrome	Kyphosis, Scoliosis	ORPHA:392
Galloway-Mowat Syndrome 3	Microphthalmia, Spasticity, Low-set ears	OMIM:617729
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Dystonia, Babinski sign, Hypoplasia of the iris, Hemiparesis, Peripapillary atr...	OMIM:175780
Aromatase Deficiency	Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ...	ORPHA:90793
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Anotia, Microtia, Atresia of the external auditory canal, Microphthalm...	ORPHA:268249
Ohdo Syndrome, X-Linked	Posteriorly rotated ears, Microtia, Low-set ears, Microphthalmia, Hearing impairment	OMIM:300895
Mucolipidosis Type Ii	Hip contracture, Diastasis recti, Inability to walk, Kyphosis, Knee flexion contracture, Weight l...	ORPHA:576
Cole-Carpenter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2050
Phace Association	Ventricular septal defect, Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Microphthalmia	OMIM:606519
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly	OMIM:616294
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Tremor, Muscular ventricular septal defect, Sensorineural hearing impairme...	OMIM:612474
Monosomy 9Q22.3	Hyperactivity, Cardiac fibroma, Low-set ears, Microphthalmia, Thickened ears	ORPHA:77301
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly	OMIM:271700
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Waddling gait, Lumbar hyperlordosis, Camptodactyly of finger, Kyphoscoliosis, Short neck, Kyphosi...	OMIM:143095
Frontorhiny	Low-set, posteriorly rotated ears, Microphthalmia, Congenital conductive hearing impairment	ORPHA:391474
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Impaired temperature sensation, Kyphosis, Cryp...	ORPHA:536532
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	OMIM:607812
Ablepharon Macrostomia Syndrome	Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia	ORPHA:920
Melas	Abnormal central motor function, Ataxia, Short stature, Hemiparesis, Gait disturbance, Myoclonus	ORPHA:550
Charge Syndrome	Anophthalmia, Secundum atrial septal defect, Atrial septal defect, Self-mutilation, Overriding ao...	OMIM:214800
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Optic disc coloboma	OMIM:120200
Microphthalmia, Syndromic 2	Anophthalmia, Ventricular septal defect, Dextrocardia, Asymmetry of the ears, Posteriorly rotated...	OMIM:300166
Alkaptonuria	Vertebral fusion, Low back pain, Kyphosis, Thickened Achilles tendon, Intervertebral disc degener...	OMIM:203500
Phosphoribosylpyrophosphate Synthetase Superactivity	Sparse hair, Ataxia	OMIM:300661
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperkinetic movements, Myoclonic spasms	ORPHA:73224
Meckel Syndrome 14	Microphthalmia, Low-set ears, Single ventricle	OMIM:619879
Spondyloenchondrodysplasia	Kyphosis, Platyspondyly, Chorea	ORPHA:1855
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Aganglionic megacolon, Sensorineural hearing impairment, Optic disc colobo...	ORPHA:959
Mosaic Variegated Aneuploidy Syndrome 2	Sparse hair	OMIM:614114
Oculopalatocerebral Syndrome	Microphthalmia, Spasticity	OMIM:257910
Osteogenesis Imperfecta	Somatic sensory dysfunction, Ataxia, Cervical kyphosis, Small for gestational age, Kyphosis, Flex...	ORPHA:666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic nerve hypoplasia, Optic atrophy, Buphthalmos, Microtia, Atresia of the external auditory ca...	OMIM:236670
Treacher-Collins Syndrome	Blepharospasm, Microtia, Hypoplasia of the thymus, Conductive hearing impairment, Microphthalmia,...	ORPHA:861
Papillorenal Syndrome	Microphthalmia, Sensorineural hearing impairment, Optic disc coloboma	OMIM:120330
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Speech apraxia, Myoclonus	ORPHA:314655
Nmda Receptor Encephalitis	Oculogyric crisis, Involuntary movements, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Myoclo...	ORPHA:217253
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Sparse hair	OMIM:615508
Pgm3-Cdg	Ataxia, Myoclonus, Short stature, Cortical myoclonus	ORPHA:443811
Rothmund-Thomson Syndrome Type 1	Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of ...	ORPHA:221008
Cowden Syndrome	Ataxia, Kyphosis, Macroglossia, Scoliosis, Failure to thrive	ORPHA:201
Nance-Horan Syndrome	Microphthalmia, Macrotia	OMIM:302350
Cousin Syndrome	Posteriorly rotated ears, Low-set ears, Microphthalmia, Microtia, first degree, Hearing impairment	OMIM:260660
Ectodermal Dysplasia And Immunodeficiency 2	Sparse hair, Aplasia of the sweat glands, Sparse scalp hair	OMIM:612132
Kaufman Oculocerebrofacial Syndrome	Sparse hair, Sparse eyebrow	OMIM:244450
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Fine hair, Gait ataxia, Hypoplastic nipples, Sparse hair, Sparse lateral e...	OMIM:280000
Chilton-Okur-Chung Neurodevelopmental Syndrome	Sparse scalp hair, Highly arched eyebrow, Sparse eyebrow, Synophrys, Poor coordination, Low anter...	OMIM:619841
Phace Syndrome	Optic nerve hypoplasia, Hemiplegia/hemiparesis, Lens coloboma, Abnormal heart morphology, Abnorma...	ORPHA:42775
3-Hydroxy-3-Methylglutaric Aciduria	Spasticity, Ataxia, Myoclonus, Spastic hemiparesis	ORPHA:20
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy	OMIM:300952
Say-Barber-Miller Syndrome	Babinski sign, Ankle clonus, Lower limb hypertonia, Spastic paraparesis, Lingual dystonia	ORPHA:3132
Meckel Syndrome	Accessory spleen, Low-set, posteriorly rotated ears, Anophthalmia, Situs inversus totalis, Asplen...	ORPHA:564
Combined Immunodeficiency-Enteropathy Spectrum	Sparse hair, Absent eyebrow, Alopecia of scalp, Nail dystrophy	ORPHA:436252
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Distal Renal Tubular Acidosis	Paralysis	ORPHA:18
Microcephaly-Micromelia Syndrome	Microphthalmia, Low-set ears	OMIM:251230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Microtia, Optic nerve hypoplasia, Low-set ears	OMIM:614643
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Atrial septal defect, Microphthalmia, Histiocytoid c...	OMIM:309801
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Torticollis, Cupped ear, Total anomalous pulmonary venous return, Atrial septal defect, Microphth...	OMIM:609945
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Optic atrophy	OMIM:618727
1P36 Deletion Syndrome	Camptodactyly of finger, Kyphosis, Cryptorchidism, Optic atrophy, Spinal canal stenosis, Obesity,...	ORPHA:1606
Bloom Syndrome	Male infertility, Premature ovarian insufficiency, Oligozoospermia, Growth delay, Severe postnata...	ORPHA:125
Premature Aging Syndrome, Penttinen Type	Microphthalmia, Sensorineural hearing impairment	OMIM:601812
Rothmund-Thomson Syndrome Type 2	Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of ...	ORPHA:221016
Pallister-Hall Syndrome	Posteriorly rotated ears, Ventricular septal defect, Microtia, Atresia of the external auditory c...	OMIM:146510
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Papilledema, Anemia	OMIM:127000
Pontocerebellar Hypoplasia Type 7	Skeletal muscle atrophy, Involuntary movements, Cryptorchidism, Hypertonia, Myoclonus, Fasciculat...	ORPHA:284339
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Sparse hair, Fine hair, Highly arched eyebrow, Low posterior hairline	OMIM:613563
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis, Failure to thrive	OMIM:239000
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Sacral dimple, Small for gestational age, Testicular neoplasm, Hyperlordosis...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Sacral dimple, Small for gestational age, Testicular neoplasm, Hyperlordosis...	ORPHA:363958
Osteogenesis Imperfecta, Type Iv	Kyphosis, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Oculo-Palato-Cerebral Syndrome	Thickened helices, Microphthalmia, Spasticity, Macrotia	ORPHA:2714
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck	ORPHA:140
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Hypogonadotropic hypogonadism, Scoliosis, Cryptorchidism	OMIM:619718
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Abnormality of the spleen, Atrial septal defect, Microphthalmia, Truncus arteriosus	ORPHA:2538
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Short neck, Kyphosis, Cryptorchidism, Elbow flexion contracture, Knee flexion co...	OMIM:619194
Steinfeld Syndrome	Microphthalmia, Abnormal pinna morphology, Hearing impairment, Abnormal heart morphology	OMIM:184705
Intellectual Developmental Disorder, Autosomal Dominant 42	Cerebral palsy, Inability to walk, Growth delay, Myoclonus, Hemiplegia, Limb hypertonia	OMIM:616973
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Cryptorchidism, Spinal canal stenosis, Fused cervical vertebrae, Vert...	ORPHA:1724
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Small earlobe, Hearing impairment	ORPHA:364577
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Short neck, Kyphosis, Cryptorchidism, Scoliosis, Camptodactyly	OMIM:616894
Mucolipidosis Ii Alpha/Beta	Sparse eyebrow, Brittle hair, Sparse hair	OMIM:252500
Cardiofacioneurodevelopmental Syndrome	Cryptorchidism, Kyphosis, Camptodactyly	OMIM:619123
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Cranioectodermal Dysplasia 1	Slow-growing hair, Short nail, Thin nail, Fine hair, Sparse hair	OMIM:218330
Fryns Syndrome	Ventricular septal defect, Aganglionic megacolon, Low-set ears, Polysplenia, Atrial septal defect...	OMIM:229850
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th...	OMIM:618223
Renpenning Syndrome 1	Ventricular septal defect, Situs inversus totalis, Macrotia, Cupped ear, Protruding ear, Atrial s...	OMIM:309500
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Cleft earlobe, Dilated cardiomyopathy, Abnormal earlobe morphology, Mitral valve pr...	ORPHA:2556
Ramon Syndrome	Kyphosis, Optic disc pallor, Scoliosis, Decreased body weight	OMIM:266270
Partial Androgen Insensitivity Syndrome	Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction	ORPHA:90797
Lymphedema-Distichiasis Syndrome	Microphthalmia, Tetralogy of Fallot, Ventricular septal defect	OMIM:153400
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Spasticity, Hypertonia, Ataxia, Myoclonus	OMIM:618426
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Abnormal pinna morphology, Complete atrioventricular canal defect, Microtia, Low-set ears, Microp...	OMIM:617925
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Clonus, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Sparse hair	OMIM:606721
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Cartilage-Hair Hypoplasia	Sparse hair, Sparse eyebrow	ORPHA:175
Aspartylglucosaminuria	Kyphosis, Cerebral atrophy, Macroglossia, Platyspondyly, Spondylolysis, Scoliosis, Macroorchidism...	OMIM:208400
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Dry hair	OMIM:311200
Developmental And Epileptic Encephalopathy 100	Choreoathetosis, Chorea, Myoclonus, Gait ataxia	OMIM:619777
Vacterl With Hydrocephalus	Anotia, Microphthalmia, Anophthalmia, Microtia, third degree	ORPHA:3412
Roberts Syndrome	External ear malformation, Microphthalmia, Absent earlobe, Thrombocytopenia	ORPHA:3103
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis, Scapular winging	OMIM:616914
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Bilateral camptodactyly, Scoliosis	OMIM:619557
Fraser Syndrome 2	Microphthalmia, Hypoplasia of the thymus, Atresia of the external auditory canal, Low-set ears	OMIM:617666
Momo Syndrome	Bilateral microphthalmos, Underfolded helix	ORPHA:2563
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Primrose Syndrome	Hip contracture, Skeletal muscle atrophy, Ataxia, Hypergonadotropic hypogonadism, Bilateral crypt...	OMIM:259050
Normosmic Congenital Hypogonadotropic Hypogonadism	Sparse body hair, Breast hypoplasia	ORPHA:432
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Buphthalmos, EEG abnormality, Hypoplasia of the retina, Myoclonus, Microphthalmia,...	OMIM:253280
Monosomy 9P	Abnormal antihelix morphology, Anotia, Hypertonia, Microtia, Low-set ears, Atresia of the externa...	ORPHA:261112
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Rigidity, Loss of eyelashes, Hypertonia, Thin eyebrow, Sparse hair, Spasticity	ORPHA:2636
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Low-set ears, Microphakia, Microphthalmia, Absent earlobe	OMIM:612109
Somatomammotropinoma	Hypogonadotropic hypogonadism, Dysmenorrhea, Kyphosis, Spinal canal stenosis, Macroglossia, Impot...	ORPHA:314769
Neurofibromatosis Type 1	Ataxia, Kyphosis, Cryptorchidism, Paresthesia, Pheochromocytoma, Scoliosis, Plexiform neurofibrom...	ORPHA:636
Basal Cell Nevus Syndrome 1	Microphthalmia, Cardiac fibroma, Cardiac rhabdomyoma	OMIM:109400
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight	OMIM:182210
Linear Nevus Sebaceus Syndrome	Microphthalmia, EEG abnormality	ORPHA:2612
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, Cupped ear	OMIM:110100
Williams Syndrome	Tremor, Abnormal form of the vertebral bodies, Dysmetria, Vertebral segmentation defect, Spina bi...	ORPHA:904
Osteogenesis Imperfecta, Type Viii	Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis	OMIM:610915
Mowat-Wilson Syndrome	Bicuspid aortic valve, Uplifted earlobe, Asplenia, Conductive hearing impairment, Abnormal repeti...	ORPHA:2152
46,Xy Partial Gonadal Dysgenesis	Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C...	ORPHA:251510
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Mitral valve prolapse	OMIM:618874
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Macrotia	OMIM:616300
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres...	OMIM:259770
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Bicuspid aortic valve, Abnormal pulmonary valve morphology, Aganglionic megacol...	ORPHA:261537
Bartsocas-Papas Syndrome 1	Cupped ear, Microtia, Low-set ears, Microphthalmia, Patent foramen ovale	OMIM:263650
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Ethylene Glycol Poisoning	Slurred speech, Ataxia, Myoclonus	ORPHA:31826
Stickler Syndrome	Skeletal muscle atrophy, Cachexia, Kyphosis, Spinal canal stenosis, Abnormal form of the vertebra...	ORPHA:828
Yunis-Varon Syndrome	Ventricular septal defect, Abnormal pinna morphology, Cardiomegaly, Bilateral microphthalmos, Car...	ORPHA:3472
Meckel Syndrome, Type 1	Accessory spleen, Asplenia, Splenomegaly, Abnormal cardiac septum morphology, Low-set ears, Micro...	OMIM:249000
Scalp-Ear-Nipple Syndrome	Sparse hair, Breast aplasia, Abnormal fingernail morphology	ORPHA:2036
45,X/46,Xy Mixed Gonadal Dysgenesis	Male infertility, Streak ovary, Short stature, Unilateral cryptorchidism, Bilateral cryptorchidis...	ORPHA:1772
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Posteriorly rotated ears, Sensorineural hearing impairment, Ventricula...	OMIM:608670
Poland Syndrome	Congenital diaphragmatic hernia, Short neck, Kyphosis, Cryptorchidism, Aplasia of the pectoralis ...	ORPHA:2911
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Hypoplastic left heart, Pulmonic stenosis, Atri...	OMIM:100300
Autosomal Recessive Robinow Syndrome	Sacral dimple, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Vertebral segmentat...	ORPHA:1507
Gaucher Disease Type 1	Kyphosis, Vertebral compression fracture	ORPHA:77259
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Overriding aorta, Atresia of the external auditory canal, Microphthalmia, Tetralogy of Fallot, He...	ORPHA:3186
Acromegaly	Hypogonadotropic hypogonadism, Dysmenorrhea, Kyphosis, Spinal canal stenosis, Macroglossia, Impot...	ORPHA:963
Holoprosencephaly-Postaxial Polydactyly Syndrome	Low-set, posteriorly rotated ears, Microphthalmia, Abnormal cardiac septum morphology	ORPHA:2166
8Q24.3 Microdeletion Syndrome	Hyperactivity, Ventricular septal defect, Optic nerve hypoplasia, Asymmetry of the ears, Posterio...	ORPHA:508488
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,...	ORPHA:2273
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Mixed hearing impairment, Optic atrophy	OMIM:201180
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Difficulty walking, Scoliosis	OMIM:619482
Lathosterolosis	Intrauterine growth retardation, Myoclonus	ORPHA:46059
Lysinuric Protein Intolerance	Sparse hair, Fine hair	OMIM:222700
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Tyrosinemia, Type I	Periodic paralysis	OMIM:276700
Gitelman Syndrome	Paralysis	ORPHA:358
Frank-Ter Haar Syndrome	Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Prominent coccyx, Camptodactyly	OMIM:249420
Hajdu-Cheney Syndrome	Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Scoliosis, Biconcave vertebral bodies, Fa...	ORPHA:955
Chime Syndrome	Sparse hair, Fine hair	ORPHA:3474
Ectodermal Dysplasia-Skin Fragility Syndrome	Sparse hair, Nail dystrophy, Alopecia universalis	ORPHA:158668
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Uplifted earlobe, Asplenia, Abnormal repetitive mannerisms, EEG abnormalit...	ORPHA:261552
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Anteverted ears, Low-set ears, Microphthalmia, Patent foramen ovale, H...	OMIM:613884
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Fontaine Progeroid Syndrome	Atrial septal defect, Bicuspid aortic valve, Posteriorly rotated ears, Conductive hearing impairm...	OMIM:612289
Zttk Syndrome	Kyphosis, Flexion contracture, Hemivertebrae, Optic atrophy, Scoliosis, Failure to thrive	OMIM:617140
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Ataxia, Action tremor, Tremor, Synophrys, Limb hypertonia, Hypertonia, Truncal...	ORPHA:3455
Marfan Syndrome	Skeletal muscle atrophy, Cachexia, Kyphosis, Scoliosis, Slender build, Spondylolisthesis	ORPHA:558
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Atypical Werner Syndrome	Abnormal hair quantity, Alopecia, Abnormal hair morphology, Abnormal hair whorl, Premature grayin...	ORPHA:79474
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Short neck, Kyphosis, Cryptorchidism, Optic atrophy, Abnormal fo...	ORPHA:818
Cranioectodermal Dysplasia 2	Sparse hair, Sparse eyelashes, Sparse eyebrow	OMIM:613610
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair	OMIM:619934
Neuroocular Syndrome	Hypoplasia of the fovea, Unilateral deafness, Lens coloboma, Cupped ear, Anterior creases of earl...	OMIM:619539
Kinsship Syndrome	Short stature, Myoclonus, Spastic tetraparesis	OMIM:619297
Microphthalmia With Limb Anomalies	Low-set, posteriorly rotated ears, Optic atrophy, Large earlobe, Microphthalmia, True anophthalmia	ORPHA:1106
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Supernumerary nipple, Patchy alopecia, Nail dystrophy, Hypoplastic nip...	OMIM:305600
Witteveen-Kolk Syndrome	Hyperactivity, Poor motor coordination, Uplifted earlobe, Aggressive behavior, Sensorineural hear...	OMIM:613406
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Ventricular septal defect, Posteriorly rotated ears, Microtia, Atte...	OMIM:619522
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Prominent antihelix, Microphthalmia, Macrotia, Underdevelop...	OMIM:610829
Mend Syndrome	Kyphosis, Sacral dimple, Failure to thrive, Cryptorchidism	OMIM:300960
Lenz-Majewski Hyperostotic Dwarfism	Sparse hair	OMIM:151050
Lenz-Majewski Hyperostotic Dwarfism	Facial palsy, Kyphosis, Cryptorchidism, Hypogonadism, Scoliosis	ORPHA:2658
Costello Syndrome	Deep-set nails, Curly hair, Thin nail, Concave nail, Sparse hair, Fragile nails	OMIM:218040
Classic Homocystinuria	Kyphosis, Optic atrophy, Scoliosis	ORPHA:394
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2769
Aicardi Syndrome	Microphthalmia, Optic disc coloboma, Optic atrophy	OMIM:304050
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro...	OMIM:609049
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Myoclonus, Tetraplegia, Dystonia	OMIM:618278
Wolf-Hirschhorn Syndrome	Vertebral fusion, Sacral dimple, Decreased muscle mass, Small for gestational age, Kyphosis, Cryp...	OMIM:194190
Bosma Arhinia Microphthalmia Syndrome	Abnormal pinna morphology, Absent tragus, Atresia of the external auditory canal, Conductive hear...	OMIM:603457
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair	OMIM:210710
Skin Creases, Congenital Symmetric Circumferential, 2	Posteriorly rotated ears, Uplifted earlobe, Microtia, Low-set ears, Microphthalmia, Overfolded helix	OMIM:616734
Cystinosis, Nephropathic	Male infertility, Skeletal muscle atrophy, Short stature, Growth delay, Myopathy, Delayed puberty...	OMIM:219800
Mandibuloacral Dysplasia Progeroid Syndrome	Sparse hair, Nail dystrophy, Sparse eyebrow	OMIM:619127
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Hypoplastic fingernail	OMIM:200110
Cdags Syndrome	Kyphosis	OMIM:603116
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Conductive hearing impairment, Microphthalmia, Tetralogy of Fallot, Low-set, posteriorly rotated ...	ORPHA:306542
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Sparse pubic hair, Sparse body hair, Sparse axillary hair	ORPHA:90796
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Bilateral microphthalmos, Anemia	ORPHA:93325
Proboscis Lateralis	Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Optic disc coloboma, Microphthalmia	ORPHA:141099
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Holoprosencephaly 7	Microphthalmia, Macrotia, Bilateral microphthalmos	OMIM:610828
Trichorhinophalangeal Syndrome, Type Ii	Sparse scalp hair, Thick eyebrow, Hemiparesis, Sparse hair, Alopecia of scalp, Fragile nails	OMIM:150230
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Camptodactyly of finger, Kyphosis, Cryptorchidism, Platyspondyly, Scoliosis, J...	OMIM:309000
Coffin-Siris Syndrome 1	Sacral dimple, Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Gait ataxia, Scoliosis,...	OMIM:135900
Isolated Arrhinia	Microphthalmia, Microtia	ORPHA:1134
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Abnormal pinna morphology, Complete atrioventricular...	OMIM:236680
Restrictive Dermopathy	Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Sparse or absent eye...	ORPHA:1662
Tetraamelia Syndrome 1	Asplenia, Microphthalmia, Low-set ears	OMIM:273395
Cleidocranial Dysplasia 1	Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis	OMIM:119600
Turner Syndrome Due To Structural X Chromosome Anomalies	Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Short neck, Ky...	ORPHA:99413
Mosaic Monosomy X	Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Short neck, Ky...	ORPHA:99228
Monosomy X	Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Short neck, Ky...	ORPHA:99226
Turner Syndrome	Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Short neck, Ky...	ORPHA:881
Spondyloepimetaphyseal Dysplasia, X-Linked	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi...	OMIM:300106
Leprosy	Absent eyebrow, Alopecia, Loss of eyelashes, Sparse body hair	ORPHA:548
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Sparse hair, Frontal hirsutism	OMIM:617157
Fraser Syndrome 1	Anophthalmia, Abnormal pinna morphology, Bilateral microphthalmos, Cupped ear, Abnormal heart mor...	OMIM:219000
Monosomy 13Q14	Thickened helices, Microphthalmia, Low-set ears, Protruding ear	ORPHA:1587
Neu-Laxova Syndrome 1	Ventricular septal defect, Transposition of the great arteries, Low-set ears, Microphthalmia, Mac...	OMIM:256520
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Rhabdomyosarcoma, Kyphosis, Schwannoma, Glomus jugular tumor, Abnormal...	ORPHA:97685
Neurocardiofaciodigital Syndrome	Sparse hair, Sparse eyebrow	OMIM:619869
Wrinkly Skin Syndrome	Scapular winging, Hypoplasia of the musculature, Kyphosis, Cryptorchidism, Scoliosis, Failure to ...	OMIM:278250
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Pallister-Hall Syndrome	Low-set, posteriorly rotated ears, Auricular tag, Ventricular septal defect, Microtia, Atresia of...	ORPHA:672
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Sparse hair, Nail dysplasia	OMIM:616682
Mowat-Wilson Syndrome	Ventricular septal defect, Aganglionic megacolon, Uplifted earlobe, Cupped ear, Abnormal heart mo...	OMIM:235730
Townes-Brocks Syndrome	Abnormal pulmonary valve morphology, External ear malformation, Abnormal tragus morphology, Abnor...	ORPHA:857
Wrinkly Skin Syndrome	Sparse hair, Progressive cerebellar ataxia, Slurred speech	ORPHA:2834
Branchiooculofacial Syndrome	Anophthalmia, Posteriorly rotated ears, Facial palsy, Sensorineural hearing impairment, Fusion of...	OMIM:113620
Fraser Syndrome	Low-set, posteriorly rotated ears, Anophthalmia, External ear malformation, Atresia of the extern...	ORPHA:2052
Treacher Collins Syndrome 1	Bilateral microphthalmos, Abnormal heart morphology, Microtia, Atresia of the external auditory c...	OMIM:154500
Proteus Syndrome	Decreased muscle mass, Cachexia, Testicular neoplasm, Kyphosis, Abnormal form of the vertebral bo...	ORPHA:744
Microphthalmia, Syndromic 1	Anophthalmia, Bicuspid aortic valve, Abnormal pinna morphology, Aganglionic megacolon, Aggressive...	OMIM:309800
Coffin-Lowry Syndrome	Kyphosis, Decreased body weight, Scoliosis, Lumbar kyphosis	OMIM:303600
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis	ORPHA:85199
Occipital Horn Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:198
Sotos Syndrome	Hip contracture, Sacrococcygeal teratoma, Ankle flexion contracture, Tremor, Kyphosis, Bilateral ...	ORPHA:821
Crimean-Congo Hemorrhagic Fever	Orchitis, Fasciculations	ORPHA:99827
Menke-Hennekam Syndrome 1	Sparse hair, Long eyelashes, Thick eyebrow	OMIM:618332
Microphthalmia, Syndromic 6	Anophthalmia, Posteriorly rotated ears, Uplifted earlobe, Protruding ear, Low-set ears, Microphth...	OMIM:607932
Occipital Horn Syndrome	Kyphosis, Platyspondyly	OMIM:304150
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ventricular septal defect, Posteriorly rotated ears, Abnormal pinna morphology,...	OMIM:268300
Cerebrocostomandibular Syndrome	Kyphosis	ORPHA:1393
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Craniofacial Microsomia 1	Anophthalmia, Ventricular septal defect, Sensorineural hearing impairment, Anotia, Microtia, Atre...	OMIM:164210
Viss Syndrome	Kyphosis, Macroglossia, Scoliosis, Failure to thrive, Contracture of the proximal interphalangeal...	OMIM:619472
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter...	OMIM:601803
Holoprosencephaly 1	Microphthalmia, Single ventricle	OMIM:236100
Holoprosencephaly 2	Microphthalmia, Single ventricle	OMIM:157170
Alström Syndrome	Optic disc pallor, Thoracic scoliosis, Somatic sensory dysfunction, Ataxia, Hypergonadotropic hyp...	ORPHA:64
Doors Syndrome	Myoclonus	ORPHA:79500
Yunis-Varon Syndrome	Small for gestational age, Anterior concavity of thoracic vertebrae, Failure to thrive in infancy...	OMIM:216340

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 Clcn1

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 Clcn1.

No publications found that use IMPC mice or data for Clcn1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Clcn1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Clcn1^em1(IMPC)Mbp	Inter-exon deletion	Mice, Tissue
Clcn1^{tm115462(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Clcn1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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