Not currently registered for phenotyping at IMPC

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

Gene Summary

HYDIN, axonemal central pair apparatus protein
hy-3,  1700034M11Rik,  hy3,  hyrh,  4930545D19Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Hydin mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
Matching phenotypes Source
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Depression, Scoliosis, Tremor, Hemiparesis, Parkinsonism, Later... ORPHA:306669
Leukoencephalopathy, Progressive, With Ovarian Failure
Babinski sign, Premature ovarian insufficiency, Apraxia, Depression, Spasticity, Ataxia, Lateral ... OMIM:615889
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Macrocephaly, Abnormal vertebral morphology, Hydrocephalus, Microcephaly, Ataxia, Motor stereotyp... OMIM:618709
Alexander Disease Type I
Hydrocephalus, Cachexia, Scoliosis, Spasticity, Failure to thrive, Ataxia, Abnormal pyramidal sig... ORPHA:363717
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Ciliary Dyskinesia, Primary, 6
Absent/shortened outer dynein arms, Abnormal ciliary motility, Ciliary dyskinesia, Abnormal respi... OMIM:610852
Atypical Teratoid Rhabdoid Tumor
Irritability, Macrocephaly, Hydrocephalus, Cerebral palsy, Hemiplegia/hemiparesis, Ataxia ORPHA:99966
Masa Syndrome
Macrocephaly, Lower limb spasticity, Hydrocephalus, Paraplegia, Hyperlordosis, Shuffling gait, Ky... OMIM:303350
Pontocerebellar Hypoplasia, Type 1A
Limb ataxia, Fasciculations, Tongue fasciculations, Microcephaly, Hypoplasia of the pons, Hypopla... OMIM:607596
Martsolf Syndrome 2
Decreased body weight, Microcephaly, Camptodactyly of finger, Short stature, Lateral ventricle di... OMIM:619420
Cach Syndrome
Limb ataxia, Irritability, Premature ovarian insufficiency, Secondary amenorrhea, Truncal ataxia,... ORPHA:135
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:215520
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Band Heterotopia
Macrocephaly, Hydrocephalus, Spasticity, Agenesis of corpus callosum, Lateral ventricle dilatatio... OMIM:600348
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Ciliary Dyskinesia, Primary, 11
Short stature, Ciliary dyskinesia, Abnormal central microtubular pair morphology of respiratory m... OMIM:612649
Ciliary Dyskinesia, Primary, 16
Ciliary dyskinesia, Absent outer dynein arms, Pulmonary insufficiency, Abnormal ciliary motility OMIM:614017
Spinocerebellar Ataxia 48
Irritability, Babinski sign, Depression, Cachexia, Chorea, Tremor, Gait ataxia, Ataxia, Parkinson... OMIM:618093
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Hypertonia, Spastic tetraparesis, Myoclonus, Failure to thrive in infa... ORPHA:284417
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Inappropriate behavior, Babinski sign, Apraxia, Spasticity, Gait disturbance, Disinhibition, Late... OMIM:221770
Intellectual Developmental Disorder, Autosomal Dominant 56
Secondary microcephaly, Bradykinesia, Pontocerebellar atrophy, Inability to walk, Lower limb spas... OMIM:617854
Ciliary Dyskinesia, Primary, 13
Ciliary dyskinesia, Absent outer dynein arms, Immotile cilia, Absent inner dynein arms OMIM:613193
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Macrocephaly, Tremor, Gait disturbance, Kinetic tremor, Ventriculo... OMIM:611808
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Dilated third ventricle, C... ORPHA:363654
Spastic Paraplegia 62, Autosomal Recessive
Spastic gait, Tip-toe gait, Babinski sign, Difficulty walking, Hoffmann sign, Lower limb spastici... OMIM:615681
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Dandy-Walker malformatio... OMIM:618736
Lissencephaly 4
Babinski sign, Hypertonia, Growth delay, Short stature, Colpocephaly, Agenesis of corpus callosum... OMIM:614019
Ciliary Dyskinesia, Primary, 42
Pneumonia, Nasal polyposis, Chronic rhinitis, Recurrent sinusitis, Bronchiectasis OMIM:618695
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia, Wide nasal bridge OMIM:209970
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Pneumonia, Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, B... OMIM:612444
Ciliary Dyskinesia, Primary, 43
Chronic rhinitis, Noncommunicating hydrocephalus, Recurrent upper respiratory tract infections, B... OMIM:618699
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Atopic dermatitis, Sinusitis, Rhinitis, Recurrent upper and lower respiratory ... ORPHA:70593
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Allergic rhinitis, Conjunctivitis ORPHA:26137
Microphthalmia-Brain Atrophy Syndrome
Tongue thrusting, Atrophy/Degeneration affecting the brainstem, Spasticity, Microcephaly, Lateral... ORPHA:77299
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Respiratory insufficiency due to defective ciliary clearance, Ciliary d... OMIM:614874
Ciliary Dyskinesia With Defective Radial Spokes
Ciliary dyskinesia, Nasal polyposis, Immotile cilia, Absent respiratory ciliary axoneme radial sp... OMIM:242670
Polymicrogyria Due To Tubb2B Mutation
Abnormal temper tantrums, Oromotor apraxia, Abnormal brainstem morphology, Microcephaly, Hypoplas... ORPHA:300573
Ciliary Dyskinesia, Primary, 7
Ciliary dyskinesia, Abnormal ciliary motility, Abnormal axonemal organization of respiratory moti... OMIM:611884
Severe X-Linked Intellectual Disability, Gustavson Type
Large fontanelles, Hypertonia, Severe postnatal growth retardation, Dandy-Walker malformation, Sp... ORPHA:3078
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Ciliary Dyskinesia, Primary, 28
Ciliary dyskinesia, Respiratory insufficiency due to defective ciliary clearance, Dynein arm defe... OMIM:615505
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Cerebellar dysplasia, Cerebellar hypoplasia, Ventricul... OMIM:604213
Bilateral Generalized Polymicrogyria
Paroxysmal dyskinesia, Eyelid myoclonus, Oral-pharyngeal dysphagia, Spasticity, Microcephaly, Sho... ORPHA:208447
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis OMIM:615451
Juvenile Huntington Disease
Bradykinesia, Irritability, Progressive cerebellar ataxia, Broad-based gait, Depression, Chorea, ... ORPHA:248111
Hydrocephalus, Increased CSF protein concentration, Difficulty walking, Episodic ataxia ORPHA:251912
Ciliary Dyskinesia, Primary, 10
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:612518
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:225050
Craniosynostosis 6
Spina bifida occulta, Bicoronal synostosis, Dandy-Walker malformation, Scoliosis, Right unilambdo... OMIM:616602
Central Neurocytoma
Abnormal lateral ventricle morphology, Babinski sign, Depression, Hydrocephalus, Ataxia, Pain ins... ORPHA:73256
Foxg1 Syndrome
Kyphoscoliosis, Difficulty walking, Hyperkinetic movements, Inability to walk, Bruxism, Progressi... ORPHA:561854
Ciliary Dyskinesia, Primary, 32
Ciliary dyskinesia, Immotile cilia, Absent respiratory ciliary axoneme radial spokes OMIM:616481
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Chronic sinusitis OMIM:615504
Spastic Paraplegia 18B, Autosomal Recessive
Babinski sign, Inability to walk, Lower limb spasticity, Scoliosis, Kyphosis, Gait disturbance, S... OMIM:611225
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hydrocephalus, Hyperactivity, Elbow flexion contracture, Spastic tetraparesis, ... OMIM:619470
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Microcepha... OMIM:609637
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Epilepsy, Progressive Myoclonic, 9
Scoliosis, Frequent falls, Gait ataxia, Action myoclonus, Agenesis of corpus callosum, Myoclonus,... OMIM:616540
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Inability to walk, Involuntary movements, Microcephaly, Growth delay, Lateral ventricle dilatatio... OMIM:615716
Christianson Syndrome
Cachexia, Truncal ataxia, Gait ataxia, Microcephaly, Inappropriate laughter, Dysphagia, Motor ste... ORPHA:85278
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Babinski sign, Hypertonia, Spasticity, Cerebral palsy, Clonus, Microcephaly, Short stature, Opist... OMIM:619847
Ciliary Dyskinesia, Primary, 12
Short stature, Ciliary dyskinesia, Abnormal central microtubular pair morphology of respiratory m... OMIM:612650
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Self-injurious behavior, Hypertonia, Macrocephaly, Short stature, Slender build, Limb tremor, Myo... OMIM:300699
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Recurrent pneumonia, Recurrent otitis media, Chronic rhinitis OMIM:616726
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Hyperkinetic movements, Inability to walk, Chorea, Scoliosis, Spasticity... OMIM:614254
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Increased CSF lactate, Intrauterine growth retardation, Abnormal CSF pyruvate ... ORPHA:79243
Ciliary Dyskinesia, Primary, 26
Ciliary dyskinesia, Absent outer dynein arms, Respiratory insufficiency due to defective ciliary ... OMIM:615500
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Immotile cilia OMIM:618801
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Depression, Emotional lability, Abnormality of extrapyramidal motor function, Trem... OMIM:615362
Ciliary Dyskinesia, Primary, 24
Recurrent sinusitis, Recurrent otitis media, Chronic rhinitis, Bronchiectasis OMIM:615481
Ciliary Dyskinesia, Primary, 35
Chronic otitis media, Nasal polyposis, Chronic rhinitis, Recurrent pneumonia, Bronchiectasis, Chr... OMIM:617092
Ciliary Dyskinesia, Primary, 14
Ciliary dyskinesia, Abnormal ciliary motility, Absent inner dynein arms, Abnormal axonemal organi... OMIM:613807
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Arthritis, T lymphocytopenia, Purulent rhinitis, Otitis media, Conjunctivitis,... OMIM:601457
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Kyphoscoliosis, Irritability, Anorexia, Abnormal fear-induced behavior, Lower limb spasticity, Br... ORPHA:3077
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology ORPHA:2703
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Reduced respiratory cili... OMIM:617091
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Somatic sensory dysfunction, Inability to walk by childhood/adolescence, Steppage gait, Babinski ... ORPHA:99947
Carboxypeptidase N Deficiency
Allergic rhinitis OMIM:212070
Pontocerebellar Hypoplasia, Type 12
Hypoplasia of the brainstem, Primary microcephaly, Lateral ventricle dilatation OMIM:618266
Immunodeficiency 102
Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Chronic rhinitis... OMIM:301082
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Ciliary dyskinesia, Nasal polyposis... OMIM:614935
Ige Responsiveness, Atopic
Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Kyphoscoliosis, Normal pressure hydrocephalus, Postnatal growth retardation, Macrocephaly, Cubitu... ORPHA:300570
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Hypertension, Rhizomelia, Agenesis of corpus callosum OMIM:166990
Spermatogenic Failure 38
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Taper... OMIM:618433
Ciliary Dyskinesia, Primary, 17
Ciliary dyskinesia, Dynein arm defect of respiratory motile cilia OMIM:614679
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Dilated fourth ventricle, Lateral ventricle dilatation, Motor stereotypy, Vent... OMIM:613443
Unilateral Hemispheric Polymicrogyria
Hemiparesis, Lateral ventricle dilatation ORPHA:101071
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Hypertonia, Spasticity, Lateral ventricle dilatation OMIM:618890
Spastic Paraplegia 70, Autosomal Recessive
Fasciculations, Spasticity, Scoliosis, Microcephaly, Growth delay, Ankle clonus, Somatic sensory ... OMIM:620323
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Spasticity, Microcephaly, Restlessness, Lateral ventricle dilatation, Partial agenesis of the cor... OMIM:619517
Combined Oxidative Phosphorylation Defect Type 39
Tip-toe gait, Babinski sign, Limb hypertonia, Lower limb spasticity, Atrophy/Degeneration affecti... ORPHA:565624
Intellectual Developmental Disorder, Autosomal Dominant 48
Macrocephaly, Hyperactivity, Scoliosis, Microcephaly, Dilated fourth ventricle, Lateral ventricle... OMIM:617751
Hip subluxation, Inability to walk, Craniosynostosis, Dandy-Walker malformation, Scoliosis, Atrop... ORPHA:356961
Pontocerebellar Hypoplasia, Type 13
Inability to walk, Dandy-Walker malformation, Gait ataxia, Microcephaly, Failure to thrive, Hypop... OMIM:618606
Huntington Disease
Decreased body mass index, Chorea, Choking episodes, Rigidity, Myoclonus, Clumsiness, Aggressive ... ORPHA:399
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Rhinitis, Chronic sinusitis, Bronchiectasis OMIM:618063
Ciliary Dyskinesia, Primary, 25
Recurrent otitis media, Chronic rhinitis, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasi... OMIM:615482
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Fasciculations, Truncal atax... ORPHA:95434
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Macrocephaly, Abnormal fear-induced behavior, Aggressive behavior, Spasticity, Microcephaly, Pseu... ORPHA:208441
Malan Overgrowth Syndrome
Macrocephaly, Scoliosis, Episodic ataxia, Lateral ventricle dilatation, Ventriculomegaly, Hypopla... ORPHA:420179
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Loss of ambulation, Decreased CSF asialotransferrin to transferrin ratio... OMIM:620315
Autosomal Recessive Spastic Paraplegia Type 53
Impaired proprioception, Kyphosis, Clonus, Microcephaly, Failure to thrive, Impaired vibratory se... ORPHA:319199
Developmental And Epileptic Encephalopathy 36
Macrocephaly, Abnormality of extrapyramidal motor function, Hydrocephalus, Scoliosis, Microcephal... OMIM:300884
Intellectual Developmental Disorder, X-Linked 12
Hip subluxation, Hyperkinetic movements, Depression, Spasticity, Tremor, Gait disturbance, Microc... OMIM:300957
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Microcephaly, Spastic tetraparesis, Lateral ventricle dilatation OMIM:617668
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Macrocephaly, Spina bifida occulta, Scoliosis, Extra-axial cerebrospinal fluid acc... OMIM:618291
1Q21.1 Microduplication Syndrome
Hypertonia, Macrocephaly, Hydrocephalus, Failure to thrive, Attention deficit hyperactivity disor... ORPHA:250994
Felty Syndrome
Chronic otitis media, Anemia, Lymphadenopathy, Recurrent pharyngitis, Arthritis, Abnormal lymphoc... ORPHA:47612
Clumsiness, Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal cerebellum m... ORPHA:1532
Neurodevelopmental Disorder With Involuntary Movements
Hyperkinetic movements, Chorea, Atrophy/Degeneration affecting the brainstem, Athetosis, Spastici... OMIM:617493
Familial Nasal Acilia
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Recurrent upper respiratory tract infections ORPHA:922
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Oculomotor apraxia, Enlarged fos... OMIM:608629
Fried Syndrome
Hydrocephalus, Scoliosis, Gait disturbance, Spastic diplegia, Aggressive behavior ORPHA:85335
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Limb hypertonia, Abnormality of extrapyramidal motor function, Chorea, Spastic... ORPHA:500180
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Global Developmental Delay With Or Without Impaired Intellectual Development
Short stature, Poor fine motor coordination, Lateral ventricle dilatation OMIM:618330
Ciliary Dyskinesia, Primary, 22
Respiratory insufficiency due to defective ciliary clearance, Ciliary dyskinesia, Nasal polyposis... OMIM:615444
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Microcephaly, Short stature, Ataxia, Ventriculomegaly ORPHA:1933
Glutaric Acidemia I
Macrocephaly, Hydrocephalus, Failure to thrive, Rigidity, Opisthotonus, Lateral ventricle dilatat... OMIM:231670
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Lower limb spasticity, Broad-based gait, Scoliosis, Waddling gait, Kyphosis, M... OMIM:616756
Creutzfeldt-Jakob Disease
Irritability, Depression, Extrapyramidal muscular rigidity, Increased CSF protein concentration, ... OMIM:123400
Ciliary Dyskinesia, Primary, 40
Reduced respiratory ciliary beating frequency, Absent outer dynein arms, Azoospermia OMIM:618300
Alexander Disease
Babinski sign, Hydrocephalus, Spasticity, Increased CSF protein concentration, Ataxia, Progressiv... OMIM:203450
Ciliary Dyskinesia, Primary, 46
Ciliary dyskinesia OMIM:619436
Giant Axonal Neuropathy 1, Autosomal Recessive
Steppage gait, Macrocephaly, Distal sensory impairment, Scoliosis, Spastic paraplegia, Lateral ve... OMIM:256850
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Gait disturbance, Microcephaly, Failure to thrive, Lethargy ORPHA:26
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Anosmia, Chronic rhinitis, Asplenia, Nasal polyposis, Bronchiectasis, Commu... OMIM:244400
Diencephalic Syndrome
Hydrocephalus, Cachexia, Decreased body weight ORPHA:1672
Den Hoed-De Boer-Voisin Syndrome
Secondary microcephaly, Agitation, Inability to walk, Lower limb spasticity, Scoliosis, Spasticit... OMIM:619229
Juvenile Amyotrophic Lateral Sclerosis
Tip-toe gait, Hypertonia, Difficulty walking, Inability to walk, Lower limb spasticity, Retrocoll... ORPHA:300605
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Macrocephaly, Low frustration tolerance, Scoliosis, Wide anterior fonta... ORPHA:457279
Ciliary Dyskinesia, Primary, 30
Ciliary dyskinesia, Absent outer dynein arms, Respiratory insufficiency due to defective ciliary ... OMIM:616037
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Secondary microcephaly, Hypertonia, Macrocephaly, Inability to walk, Hydrocephalus, Short stature... OMIM:618174
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Secondary microcephaly, Irritability, Agitation, Scoliosis, Poor gross motor coordination, Cerebr... ORPHA:2148
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Progressive microcephaly, Tongue fasciculations, Kyphosis, Short stature, Failure to thrive, Atax... OMIM:620007
Mitochondrial Complex I Deficiency, Nuclear Type 19
Secondary microcephaly, Irritability, Inability to walk, Scoliosis, Athetosis, Gait disturbance, ... OMIM:618241
Riboflavin Transporter Deficiency
Cachexia, Tremor, Ataxia, Dysphagia, Hypogonadism, Myoclonus, Aggressive behavior ORPHA:97229
Hsd10 Disease
Postnatal growth retardation, Tremor, Gait disturbance, Microcephaly, Rigidity, Ataxia, Dysphagia... ORPHA:391417
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Sacral dimple, Scoliosis, Frequent falls, Intention tremor, Short stature, Lower limb hypertonia,... OMIM:619995
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Progressive spasticity, Lateral ventricle dilatation OMIM:619972
Dermatitis, Atopic
Atopic dermatitis, Eczematoid dermatitis, Conjunctivitis, Recurrent skin infections, Allergic rhi... OMIM:603165
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Difficulty walking, Genu valgum, Gait imbalance, Progressive microcep... ORPHA:488627
Ciliary Dyskinesia, Primary, 15
Ciliary dyskinesia, Nasal polyposis, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Macrocephaly, Progressive cerebellar ataxia, Lower limb spasticity, Depr... ORPHA:485350
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis, Acute lymp... ORPHA:486
Distal Deletion 10Q
Postnatal growth retardation, Aggressive behavior, Spina bifida occulta, Oculomotor apraxia, Poor... ORPHA:96148
Ciliary Dyskinesia, Primary, 21
Ciliary dyskinesia OMIM:615294
2,4-Dienoyl-Coa Reductase Deficiency
Increased CSF lysine concentration, Hydrocephalus, Incoordination, Tetraplegia, Spasticity, Incre... OMIM:616034
Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Rhinitis, Leukopenia, Sple... ORPHA:507
Glycine Encephalopathy 1
Irritability, Hyperactivity, Impulsivity, Agenesis of corpus callosum, Myoclonus, Restlessness, L... OMIM:605899
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Emotional lability, Abnormality of extrapyramidal motor function, Scoliosis, P... ORPHA:2822
Ciliary Dyskinesia, Primary, 2
Absent inner and outer dynein arms, Ciliary dyskinesia, Immotile cilia, Nasal polyposis OMIM:606763
Mulibrey Nanism
Short stature, Cachexia, Macrocephaly, Intrauterine growth retardation ORPHA:2576
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hypertonia, Inability to walk, Cachexia, Scoliosis, Spasticity, Microcephaly, Short neck, Hip con... OMIM:616801
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Kyphoscoliosis, Butterfly vertebrae, Macrocephaly, Genu valgum, Hydrocephalus, Scoliosis, Thoraci... OMIM:613330
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Increased CSF lactate, Cachexia, Gait ataxia, Failure to thrive, Weight loss OMIM:612075
Ciliary Dyskinesia, Primary, 37
Bronchiectasis, Goiter, Chronic rhinitis OMIM:617577
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Ciliary Dyskinesia, Primary, 51
Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:620438
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Chorea, Scoliosis, Intrauterine growth retardation, Kyphosis, Finger joint contracture, Intention... ORPHA:48431
Pelizaeus-Merzbacher Disease
Cachexia, Scoliosis, Spasticity, Gait disturbance, Kyphosis, Microcephaly, Short stature, Ataxia,... ORPHA:702
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Absent inner dynein arms, Coiled sperm flagella OMIM:620356
Ciliary Dyskinesia, Primary, 3
Ciliary dyskinesia OMIM:608644
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia, Growth delay, Intrauterine gr... ORPHA:488635
Rett Syndrome
Secondary microcephaly, Cachexia, Truncal ataxia, Scoliosis, Spasticity, Gait apraxia, Gait ataxi... OMIM:312750
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Macrocephaly, Genu valgum, Abnormal vertebral morphology, Short stature,... ORPHA:166024
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Hypoplasia of the pons, Agenesis of corpus callosum, Cerebellar hypoplasia, Hypopl... OMIM:619301
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Depression, Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Ata... ORPHA:401901
Wars2-Related Combined Oxidative Phosphorylation Defect
Difficulty walking, Limb hypertonia, Athetosis, Tremor, Dilated fourth ventricle, Ataxia, Dysphag... ORPHA:572798
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Adams-Oliver Syndrome 2
Macrocephaly, Limb hypertonia, Hydrocephalus, Microcephaly, Lateral ventricle dilatation OMIM:614219
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Micr... OMIM:607317
Microcephaly, Lateral ventricle dilatation ORPHA:79326
Baker-Gordon Syndrome
Hyperkinetic movements, Inability to walk, Athetoid cerebral palsy, Scoliosis, Involuntary moveme... OMIM:618218
Moynahan Syndrome
Microcephaly, Cachexia, Hypogonadism, Short stature ORPHA:2574
Glut1 Deficiency Syndrome 1
Secondary microcephaly, Babinski sign, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Hyp... OMIM:606777
X-Linked Intellectual Disability, Cabezas Type
Macrocephaly, Cubitus valgus, Broad-based gait, Hyperactivity, Cachexia, Scoliosis, Tremor, Bipar... ORPHA:85293
Hurler-Scheie Syndrome
Rhinitis, Splenomegaly ORPHA:93476
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Nasal polyposis, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumon... OMIM:608647
Autosomal Recessive Spastic Paraplegia Type 66
Spastic gait, Difficulty walking, Limb hypertonia, Lower limb spasticity, Impaired vibration sens... ORPHA:401815
Huntington Disease-Like 1
Bradykinesia, Depression, Chorea, Incoordination, Poor fine motor coordination, Gait disturbance,... ORPHA:157941
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Spinal rigidity, Hyperlordosis, Gait disturbance ORPHA:157973
Aicardi-Goutieres Syndrome 9
Irritability, Hypertonia, Scoliosis, Spasticity, Spastic tetraparesis, Intrauterine growth retard... OMIM:619487
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Ciliary Dyskinesia, Primary, 29
Ciliary dyskinesia OMIM:615872
Aids Wasting Syndrome
Anorexia, Cachexia, Weight loss ORPHA:90081
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypertonia, Joint contracture of the 5th finger, Cerebral palsy, Joint contracture of the 4th fin... OMIM:618914
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia OMIM:620032
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Hydrocephalus, Agenesis of corpus callosum, Spastic tetraplegia, Hypoplasia of the br... OMIM:619302
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Irritability, Abnormal vertebral morphology, Abnormality of the vertebral column, Truncal ataxia,... OMIM:250620
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Scoliosis, Kyphosis, Short stature,... OMIM:230650
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Slender build, Ataxia, Weight loss OMIM:613662
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Agitation, Tremor, Compulsive behaviors, Failure to thrive, Myoclonus, Hypoplasia of the brainstem OMIM:619651
Developmental And Epileptic Encephalopathy 69
Hyperkinetic movements, Macrocephaly, Inability to walk, Myoclonus, Spastic tetraplegia OMIM:618285
Polymyoclonus, Infantile
Irritability, Ataxia, Myoclonus OMIM:263550
Atypical Rett Syndrome
Kyphosis, Gait ataxia, Bruxism, Pill-rolling tremor, Agitation, Tongue thrusting, Scoliosis, Trem... ORPHA:3095
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Anemia, Pancytopenia, Hydrocephalus, Thrombocytopeni... OMIM:259710
Spinocerebellar Ataxia 38
Limb ataxia, Atrophy/Degeneration affecting the brainstem, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Dystonia 11, Myoclonic
Torticollis, Depression, Tremor, Compulsive behaviors, Addictive alcohol use, Myoclonus OMIM:159900
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Dysphagia ORPHA:309169
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Torticollis, Depression, Compulsive behaviors, Myoclonus, Limb myoclonus ORPHA:36899
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Acute otitis media, Sclerosing cholangitis, Pancytopenia, Neutropeni... ORPHA:572
Spastic Paraplegia 46, Autosomal Recessive
Spastic gait, Babinski sign, Lower limb spasticity, Ankle clonus, Upper limb dysmetria, Scoliosis... OMIM:614409
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait OMIM:616921
Genu valgum, Truncal ataxia, Atrophy/Degeneration affecting the brainstem, Microcephaly, Camptoda... ORPHA:263487
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Spastic gait, Tip-toe gait, Limb hypertonia, Dilated third ventricle, Spastic paraplegia, Lower l... OMIM:617296
Primary Ciliary Dyskinesia
Chronic otitis media, Recurrent otitis media, Hydrocephalus, Nasal congestion, Chronic rhinitis, ... ORPHA:244
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Self-injurious behavior, Severe failure to thrive, Cachexia, Scoliosis, Elbow flexion contracture... ORPHA:371364
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Irritability, Hydrocephalus, Scoliosis, Cerebral palsy, Microcephaly, Failure to thrive, Short st... OMIM:619833
Striatonigral Degeneration, Infantile, Mitochondrial
Babinski sign, Difficulty walking, Incoordination, Chorea, Poor motor coordination, Frequent fall... OMIM:500003
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology, Increased CSF lactate, Abnormal CSF pyruvate family amino acid con... ORPHA:255182
Whipple Disease
Polydipsia, Anorexia, Erectile dysfunction, Depression, Cachexia, Hydrocephalus, Arthritis, Ataxi... ORPHA:3452
Dandy-Walker Syndrome
Hydrocephalus, Truncal ataxia, Dilated fourth ventricle OMIM:220200
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Butterfly vertebrae, Postnatal growth retardation, Rhizomelia, Progressive microc... OMIM:611209
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Periodontitis ORPHA:1008
Hao-Fountain Syndrome
Large fontanelles, Apraxia, Delayed cranial suture closure, Speech apraxia, Aggressive behavior OMIM:616863
Congenital Disorder Of Glycosylation, Type In
Spasticity, Microcephaly, Failure to thrive, Short stature, Ataxia, Myoclonus, Short neck OMIM:612015
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Segawa Syndrome, Autosomal Recessive
Decreased CSF homovanillic acid concentration, Abnormality of extrapyramidal motor function, Trem... OMIM:605407
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Spinal rigidity, Lower limb spasticity, Scoliosis, Hyperlordosis, Gait disturbance,... OMIM:617404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Cerebellar vermis hypoplasia, Hydrocephalus, Cardiomyopathy, ... OMIM:613155
Paroxysmal Non-Kinesigenic Dyskinesia
Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Chorea, Involuntary movements, Rigidi... ORPHA:98810
X-Linked Creatine Transporter Deficiency
Hypertonia, Hyperactivity, Cachexia, Chorea, Athetosis, Microcephaly, Short stature, Ataxia, Self... ORPHA:52503
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Ciliary dyskinesia, Coiled sperm flagella OMIM:620197
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Depression, Abnormality of extrapyramidal motor function, Ataxia, Parkinsonism, Myoclonus OMIM:162350
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Falls, Truncal ataxia, Atrophy/Degeneration affecting the brainstem, Gait disturbanc... OMIM:616230
Infantile Krabbe Disease
Increased head circumference, Irritability, Lower limb spasticity, Decreased head circumference, ... ORPHA:206436
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Bradykinesia, Hypertonia, Hyperkinetic movements, Agitation, Falls, Depression, Chorea, Abnormali... ORPHA:13
Congenital Syphilis
Myocarditis, Anemia, Lymphadenopathy, Pancreatitis, Maculopapular exanthema, Hydrocephalus, CSF p... ORPHA:499009
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Chorea, Head-banging, Head titubati... ORPHA:2388
Spinocerebellar Ataxia 17
Bradykinesia, Limb ataxia, Apraxia, Broad-based gait, Depression, Chorea, Positive Romberg sign, ... OMIM:607136
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dilated third ventricle, Kyphosis, Microcephaly, Agenesis of corpus callosum, Lateral ventricle d... OMIM:619244
Bainbridge-Ropers Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Large fontanelles, Hypertoni... OMIM:615485
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Kyphoscoliosis, Hyperactivity, Lateral ventricle dilatation, Self-injurious behavior, Aggressive ... OMIM:620075
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Tip-toe gait, Babinski sign, Steppage gait, Lower limb spasticity, Broad-based gait, Fasciculatio... OMIM:615290
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Distal sensory impairment, Tremor OMIM:615048
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Macrocephaly, Elevated CSF D-2-hydroxyglutaric acid concentration, Lateral ve... OMIM:600721
Alexander Disease
Chorea, Tetraplegia, Hyperlordosis, Kyphosis, Ataxia, Dysphagia, Depression, Hydrocephalus, Scoli... ORPHA:58
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus ORPHA:308
Adult Krabbe Disease
Hoffmann sign, Babinski sign, Acroparesthesia, Progressive spastic paraparesis, Erectile dysfunct... ORPHA:206448
Mcdonough Syndrome
Short stature, Cachexia, Scoliosis, Kyphosis ORPHA:2471
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Progressive microcephaly, Chorea, Spasticity, Hemiparesis, Ataxia, Extrapyra... ORPHA:71277
Developmental And Epileptic Encephalopathy 31B
Secondary microcephaly, Irritability, Appendicular spasticity, Involuntary movements, Clonus, Fai... OMIM:620352
Corpus Callosum, Partial Agenesis Of, X-Linked
Dislocated radial head, Hydrocephalus, Spasticity, Microcephaly, Ventriculomegaly, Partial agenes... OMIM:304100
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Macrocephaly, Hydrocephalus, Spasticity, Spastic paraplegia, Agenesis of cor... OMIM:307000
Flynn-Aird Syndrome
Impaired pain sensation, Cachexia, Scoliosis, Kyphosis, Ataxia ORPHA:2047
Hyperphenylalaninemia, Bh4-Deficient, C
Irritability, Hypertonia, Tremor, Microcephaly, Dysphagia, Myoclonus, Choreoathetosis OMIM:261630
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Ataxia OMIM:618425
Developmental And Epileptic Encephalopathy 37
Hyperkinetic movements, Chorea, Spasticity, Gait disturbance, Cogwheel rigidity, Rigidity, Myoclo... OMIM:616981
L1 Syndrome
Aqueductal stenosis, Depression, Hydrocephalus, Spasticity, Gait disturbance, Hemiplegia/hemiparesis ORPHA:275543
Autosomal Recessive Cutis Laxa Type 2A
Secondary microcephaly, Dysplastic corpus callosum, Postnatal growth retardation, Inability to wa... ORPHA:357058
Mitochondrial Complex I Deficiency, Nuclear Type 31
Failure to thrive, Ventriculomegaly, Dysmetria, Myoclonus OMIM:618251
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Emotional lability, Hyperactivity, Relative macrocephaly, Tremor, Kyphosis, Gait... OMIM:300354
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Increased CSF lactate, Short stature, Increased CSF alanine concentration, Ataxia,... OMIM:619065
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Large for gestational age, Macrocephaly, Sacral dimple, Spasticity, D... ORPHA:544488
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Agitation, Apraxia, Polyphagia, Disinhibition, Parkinsonism, Lateral ventricle dilatation, Repeti... OMIM:607485
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Hyperactivity, Kyphosis, Short stature, Small for gestation... ORPHA:85288
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased CSF lactate, Tremor, Myoclonus, Episodic ataxia, Microcephaly, Agenesis of corpus callo... OMIM:312170
Postencephalitic Parkinsonism
Bradykinesia, Babinski sign, Akinesia, Depression, Resting tremor, Tremor by anatomical site, CSF... ORPHA:97349
Temple Syndrome
Postnatal growth retardation, Hydrocephalus, Scoliosis, Relative macrocephaly, Polyphagia, Short ... ORPHA:254516
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor, Loss of ambulation OMIM:182980
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Secondary microcephaly, Hyperkinetic movements, Inability to walk, Bruxism, Stereotypical hand wr... OMIM:618497
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cervical spinal canal stenosis, Molar tooth sign on MRI, Occipital encephalocele, Rhizomelic leg ... ORPHA:397715
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Ciliary dyskinesia ORPHA:1882
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar cyst, Hydrocephalus, Dandy-Walker malformation, Hypoplasia of the pons, Cerebellar dys... OMIM:613153
Huntington Disease-Like 2
Bradykinesia, Irritability, Depression, Chorea, Action tremor, Rigidity, Weight loss OMIM:606438
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Depression, Ataxia, Myoclonus, Attention deficit hyperactivity disorder, Dysm... OMIM:619191
Netherton Syndrome
Chronic rhinitis, Eczematoid dermatitis, Recurrent skin infections, Erythroderma, Hypereosinophil... OMIM:256500
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Lateral ventricle dilatation, Growth delay ORPHA:85290
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypertonia, Decreased CSF homovanillic acid concentration, Progressive microcephaly, Failure to t... OMIM:610090
Chronic Actinic Dermatitis
Erythroderma, Late onset atopic dermatitis, Allergic rhinitis, Eczematoid dermatitis ORPHA:330064
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Scoliosis, Kyphosis, Microcephaly, Short stature, Bruxism, Hip dislocation OMIM:300434
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Dilated third ventricle, Cogwheel rigidity, Intention tremo... OMIM:619725
Hydrocephalus OMIM:148800
Facial Onset Sensory And Motor Neuronopathy
Fasciculations, Dysphagia, Paresthesia ORPHA:85162
Salt And Pepper Developmental Regression Syndrome
Irritability, Microcephaly, Failure to thrive, Myoclonus, Choreoathetosis OMIM:609056
Spinocerebellar Ataxia 2
Bradykinesia, Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... OMIM:183090
Narp Syndrome
Irritability, Babinski sign, Myoclonic spasms, Short stature, Ataxia, Progressive gait ataxia, Ve... ORPHA:644
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Ceroid Lipofuscinosis, Neuronal, 1
Secondary microcephaly, Irritability, Depression, Progressive microcephaly, Spasticity, Ataxia, M... OMIM:256730
Houge-Janssens Syndrome 2
Inability to walk, Hydrocephalus, Scoliosis, Gait ataxia, Microcephaly, Prominent metopic ridge, ... OMIM:616362
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly OMIM:617967
Developmental And Epileptic Encephalopathy 92
Secondary microcephaly, Difficulty walking, Inability to walk, Spasticity, Ataxia, Myoclonus, Let... OMIM:617829
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Kyphoscoliosis, Wrist flexion contracture, Microcephaly, Spastic paraplegia, Ataxia... OMIM:300055
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Progressive microcephaly, Hyperkinetic movements, Stereotypical hand wringing, Self-injurious beh... ORPHA:397933
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Gait disturbance, Cogwheel rigidity... ORPHA:363710
Developmental And Epileptic Encephalopathy 40
Spasticity, Spastic tetraparesis, Intrauterine growth retardation, Myoclonus, Lethargy, Choreoath... OMIM:617065
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Midline brainstem cleft, Hydrocephalus, Scoliosis, Hypoplasia of the pons, Hemiparesis, Unsteady ... OMIM:617542
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Optic Atrophy 11
Macrocephaly, Hyperkinetic movements, Hyperactivity, Athetosis, Gait apraxia, Microcephaly, Short... OMIM:617302
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Scoliosis, Spasticity, Stereotypic... OMIM:304340
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Agitation, Scoliosis, Tremor, Spasticity, Kyphosis, Unsteady gait, Dysp... OMIM:617435
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Small for gestational age, Lateral ventricle dilatation OMIM:619278
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Depression, Chorea, Tremor, Action tremor, Growth delay, Atax... OMIM:619738
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperkinetic movements, Hyperactivity, Elevated CSF 4-hydroxybutyric acid concentration, Ataxia, ... OMIM:271980
Sandhoff Disease
Failure to thrive, Macrocephaly, Ataxia, Kyphosis ORPHA:796
Paroxysmal Hemicrania
Rhinitis, Focal sensory seizure with olfactory features ORPHA:157835
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Cerebellar hypoplasia, Occipital encephalocele, Hypoplasia of the brainstem ORPHA:352682
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Difficulty walking, Inability to walk, Scoliosis, Tremor, Waddling gait, Limb m... ORPHA:2590
Ataxia-Telangiectasia-Like Disorder
Oculomotor apraxia, Chorea, Dysdiadochokinesis, Frequent falls, Hypergonadotropic hypogonadism, G... ORPHA:251347
Weaver Syndrome
Limited elbow extension, Hypertonia, Macrocephaly, Scoliosis, Spasticity, Poor fine motor coordin... OMIM:277590
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Babinski sign, Hypertonia, Difficulty walking, Distal sensory impairment, Fasciculations, Incoord... OMIM:616688
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Sacral dimple, Macrocephaly, Craniosynostosis, Hydrocephalus, Short stature, Short neck ORPHA:1516
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Macrocephaly, Hydrocephalus, Head-banging, Dilated third ventricle, Frequent temper tantrums, Sho... OMIM:619575
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Depression, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus OMIM:204300
Cdkl5-Deficiency Disorder
Difficulty walking, Impaired pain sensation, Scoliosis, Kyphosis, Gait disturbance, Stereotypical... ORPHA:505652
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Emotional lability, Myoclonus, Frequent falls, Lowe... ORPHA:254343
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Irritability, Emotional blunting, Restrictive behavior, Fasciculations, A... ORPHA:275864
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Combined Saposin Deficiency
Fasciculations, Babinski sign, Hyperkinetic movements, Myoclonus OMIM:611721
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Macrocephaly, Colpocephaly ORPHA:2185
4Q21 Microdeletion Syndrome
Large fontanelles, Scoliosis, Tremor, Kyphosis, Growth delay, Agenesis of corpus callosum, Self-i... ORPHA:238750
Hydrocephalus-Obesity-Hypogonadism Syndrome
Cubitus valgus, Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism, Short stature, Obesit... ORPHA:2183
Lennox-Gastaut Syndrome
Irritability, Falls, Abnormal brainstem morphology, Hyperactivity, Myoclonus, Aggressive behavior ORPHA:2382
Nasu-Hakola Disease
Irritability, Oculomotor apraxia, Hydrocephalus, Chorea, Spasticity, Disinhibition, Ventriculomegaly ORPHA:2770
Parastremmatic Dwarfism
Genu valgum, Scoliosis, Kyphosis, Severe short stature, Short neck OMIM:168400
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Irritability, Babinski sign, Decreased CSF homovanillic acid concentration, Abnorma... ORPHA:101150
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Obsessive-compulsive trait, Abnormal temper tantrums, Hydrocephalus, Scoliosis, Relative macrocep... ORPHA:500055
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Intention tremor, Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia ORPHA:2589
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Genu valgum, Macrocephaly, Depression, Hydrocephalus, Patellar subluxation OMIM:248000
Pontocerebellar Hypoplasia, Type 2E
Secondary microcephaly, Irritability, Hypertonia, Progressive microcephaly, Scoliosis, Spasticity... OMIM:615851
Developmental And Epileptic Encephalopathy 6B
Hyperkinetic movements, Inability to walk, Chorea, Scoliosis, Ataxia, Motor stereotypy, Myoclonus... OMIM:619317
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
Glutamine Deficiency, Congenital
Decreased CSF glutamine concentration, Subependymal cysts, Lateral ventricle dilatation OMIM:610015
Basel-Vanagaite-Smirin-Yosef Syndrome
Difficulty walking, Inability to walk, Scoliosis, Spasticity, Dilated third ventricle, Kyphosis, ... ORPHA:464738
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensa... ORPHA:276435
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
Microcephaly, Amish Type
Irritability, Limb hypertonia, Small anterior fontanelle, Failure to thrive, Myoclonus, Primary m... OMIM:607196
Craniotelencephalic Dysplasia
Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Craniosynostosis, Frontal encephalocele ORPHA:1528
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertonia, Joint contracture of the 5th finger, Hyperactivity, Scoliosis, Spasticity, Cerebral p... ORPHA:352490
Caribbean Parkinsonism
Bradykinesia, Apraxia, Myoclonus, Action tremor, Rigidity, Parkinsonism, Progressive gait ataxia,... ORPHA:97355
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Distal sensory impairment, Impaired pain sensation, Scoliosis, K... OMIM:618124
Pseudo-Torch Syndrome 2
Microcephaly, Ventriculomegaly, Lethargy, Lateral ventricle dilatation OMIM:617397
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hydrocephalus, CSF lymphocytic pleiocytosis, Thrombocytopenia, Hepatosplenomegaly, ... OMIM:610333
Hyperphenylalaninemia, Bh4-Deficient, B
Irritability, Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Dysphagia, Increased CSF... OMIM:233910
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Depression, Tremor, Parkinsonism with favorable response to dopamine... ORPHA:314632
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Scoliosis, Tremor, Kyphosis, Gait disturbance, Ataxia ORPHA:101075
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Cachexia, Scoliosis, Microcephaly, Failure to thrive, Severe sho... OMIM:610965
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Secondary microcephaly, Irritability, Hypertonia, Myoclonus, Ventriculomegaly OMIM:617290
Intellectual Developmental Disorder, X-Linked 30
Agitation, Hyperactivity, Hydrocephalus, Microcephaly, Short stature, Restlessness, Clumsiness, A... OMIM:300558
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Difficulty walking, Lower limb spasticity, Progressive spastic paraplegia, Scoliosis, Spasticity,... ORPHA:464282
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hyperkinetic movements, Depression, Tremor, Gait disturbance, Microcephaly, Short stature, Upper ... ORPHA:457240
Spinocerebellar Ataxia Type 2
Progressive cerebellar ataxia, Fasciculations, Chorea, Gait ataxia, Olivopontocerebellar hypoplas... ORPHA:98756
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Cerebellar cyst, Abnormal brainstem morphology, Hydrocephalus, Cardiomyo... ORPHA:370959
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Waddling gait, Decreased body weight, Kyphosis, Short statu... OMIM:618392
Microtriplication 11Q24.1
Genu valgum, Hyperkinetic movements, Joint dislocation, Scoliosis, Microcephaly, Speech apraxia, ... ORPHA:289522
Huntington Disease-Like 2
Chorea, Gait disturbance, Involuntary movements, Parkinsonism, Weight loss ORPHA:98934
Failure to thrive, Hyperkinetic movements OMIM:277100
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Shoulder dislocation, Scoliosis, Kyphosis, Gait disturbance, Hemiplegia ORPHA:2181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Hydrocephalus, Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar hypoplas... OMIM:615181
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis, Spastic tetraplegia, Macrocephaly, Hydrocephalus OMIM:300886
Yellow Nail Syndrome
Sinusitis, Rhinitis, Bronchiectasis ORPHA:662
Developmental And Epileptic Encephalopathy 11
Spastic tetraplegia, Hyperkinetic movements OMIM:613721
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Anemia of inadequate production, Splenomegaly, Allergic rhinitis OMIM:612714
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Sclerosing cholangitis, Cutaneous abscess, Atopic dermatitis, Eczematoid ... OMIM:243700
Isolated Succinate-Coq Reductase Deficiency
Irritability, Babinski sign, Spasticity, Spastic tetraparesis, Frequent falls, Proportionate shor... ORPHA:3208
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microcephaly, Lateral ventricle dilatation OMIM:614105
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Spasticity, Hemiplegia/hemiparesis, Holoprosencephaly, Agenes... ORPHA:2182
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Macrocephaly, Ataxia, Lethargy ORPHA:42
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Spasticity, Gait ataxia, Failure to thrive, Crouch gait, Myoclonus, Intrauterine g... OMIM:620145
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Scoliosis, Ulnar deviation of the wrist, Agenesis of corpus callosum, Ventriculome... OMIM:618577
Williams-Beuren Region Duplication Syndrome
Macrocephaly, Hydrocephalus, Gait disturbance, Speech apraxia, Failure to thrive, Short stature, ... OMIM:609757
Joubert Syndrome 31
Truncal ataxia, Ventriculomegaly, Molar tooth sign on MRI, Oculomotor apraxia OMIM:617761
Joubert Syndrome 10
Molar tooth sign on MRI, Macrocephaly, Decreased body weight, Polyphagia, Frequent temper tantrum... OMIM:300804
Familial Infantile Bilateral Striatal Necrosis
Babinski sign, Hypertonia, Spasticity, Spastic tetraparesis, Gait disturbance, Gait ataxia, Frequ... ORPHA:225154
Limited elbow extension, Cervical spinal canal stenosis, Disproportionate short stature, Macrocep... ORPHA:15
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Secondary microcephaly, Hip subluxation, Increased CSF lactate, Scoliosis, Spasticity, Vocal cord... ORPHA:500144
Mitochondrial Complex I Deficiency, Nuclear Type 15
Irritability, Kyphosis, Failure to thrive, Spastic tetraplegia, Intrauterine growth retardation OMIM:618237
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Secondary microcephaly, Babinski sign, Hydrocephalus, Spasticity, Microcephaly, Abnormal pyramida... OMIM:615599
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Macrocephaly, Difficulty walking, Hydrocephalus, Dandy-Walker malformat... OMIM:618476
Scheie Syndrome
Rhinitis, Splenomegaly ORPHA:93474
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Erratic myoclonus, Atrophy/Degeneration affecting the brainstem, Attention deficit hyperactivity ... OMIM:619971
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Increased CSF protein concentration, Hypergonadotropic hypogonadism, Dysphagia, Weight ... ORPHA:298
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Amyotrophic Lateral Sclerosis
Babinski sign, Agitation, Depression, Cachexia, Emotional lability, Fasciculations, Spasticity, D... ORPHA:803
Houge-Janssens Syndrome 1
Macrocephaly, Hydrocephalus, Scoliosis, Gait ataxia, Congenital hip dislocation, Intrauterine gro... OMIM:616355
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Spinocerebellar Ataxia, Autosomal Recessive 10
Limb ataxia, Babinski sign, Fasciculations, Truncal ataxia, Gait ataxia, Intention tremor, Dysmetria OMIM:613728
Silver-Russell Syndrome
Secondary microcephaly, Postnatal growth retardation, Cachexia, Scoliosis, Relative macrocephaly,... ORPHA:813
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Spasticity, Microcephaly, Hypoplasia of the pons, Dysphagia, Myoclonus, Hypoplasia of... OMIM:225753
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Tip-toe gait, Difficulty walking, Scoliosis, Hyperlordosis, Kyphosis, Frequent falls, Microcephal... OMIM:606612
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Biemond Syndrome Type 2
Delayed puberty, Hydrocephalus, Short stature, Obesity, Hypogonadism, Hypogonadotropic hypogonadism ORPHA:141333
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Scoliosis, Tremor, Kyphosis, Gait disturbance, Ataxia ORPHA:101078
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... OMIM:611302
Lissencephaly 5
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Cerebellar hemisphere hypop... OMIM:615191
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Microcephaly, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Craniosyn... ORPHA:1496
Developmental And Epileptic Encephalopathy 54
Microcephaly, Ventriculomegaly, Myoclonus OMIM:617391
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Impulsivity, Oppositional defiant disorder, Ataxia, Myoclonus, Imp... OMIM:619028
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Spasticity, Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis OMIM:615924
Irritability, Progressive cerebellar ataxia, Cerebellar ataxia associated with quadrupedal gait, ... ORPHA:616
Spinocerebellar Ataxia, Autosomal Recessive 32
Bradykinesia, Limb ataxia, Torticollis, Atrophy/Degeneration affecting the brainstem, Gait ataxia... OMIM:619862
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ... ORPHA:397946
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition... ORPHA:331235
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Pterygium, Hydrocephalus, Dandy-Walker malformation, Hydranencephaly, Microcephaly, Age... OMIM:225790
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration, Difficulty walking, Episodic ataxia ORPHA:251915
Coach Syndrome 2
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Hydrocephalus, Hypertension, Agenesis of c... OMIM:619111
Sinusitis, Myocarditis, Cholangitis, Thyroiditis, Nephritis, Pneumonia, Osteomyelitis, Pancreatit... ORPHA:2552
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Babinski sign, Hypertonia, Dysdiadochokinesis, Intention tremor, Microcephaly, Failure to thrive,... OMIM:618356
Pontocerebellar Hypoplasia Type 4
Hypertonia, Primary microcephaly, Olivopontocerebellar hypoplasia, Myoclonus, Hypoplasia of the b... ORPHA:166063
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Cachexia, Spasticity, Microcephaly, Short stature, Ataxia ORPHA:220295
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Macrocephaly, Scoliosis, Spasticity, Kyphosis, Gait disturbance, Truncal obesity ORPHA:2429
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Depression, Truncal ataxia, Emotional lability, Tremor, Spast... OMIM:137440
Developmental And Epileptic Encephalopathy 1
Hypertonia, Erratic myoclonus, Spastic tetraparesis, Microcephaly, Growth delay, Dysphagia, Abnor... OMIM:308350
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia, Hypertonia ORPHA:1389
Renpenning Syndrome
Microcephaly, Cachexia, Severe short stature, Growth delay ORPHA:3242
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Depression, Scoliosis, Kyphosis, Short stature, Obesity ORPHA:276630
Epilepsy, Progressive Myoclonic, 11
Rigidity, Ataxia, Myoclonus, Intention tremor OMIM:618876
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Cole-Carpenter Syndrome 2
Postnatal growth retardation, Macrocephaly, Lambdoidal craniosynostosis, Hydrocephalus, Wormian b... OMIM:616294
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Craniosynostosis, Macrocephaly, Agenesis of corpus callosum ORPHA:380
Chronic otitis media, Decreased proportion of CD3-positive T cells, T lymphocytopenia, Bone marro... ORPHA:443811
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, A... ORPHA:370022
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Fasciculations, Steppage gait, Distal sensory impairment, Claw hand deformity OMIM:606595
Amyotrophic Lateral Sclerosis 28
Chaddock reflex, Babinski sign, Difficulty walking, Fasciculations, Dysphagia OMIM:620452
Restless Legs Syndrome, Susceptibility To, 1
Restless legs, Paresthesia, Myoclonus OMIM:102300
Methylcobalamin Deficiency Type Cble
Postnatal growth retardation, Hydrocephalus, Scoliosis, Microcephaly, Failure to thrive, Lower li... ORPHA:2169
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Difficulty walking, Distal sensory impairment, Kyphosis OMIM:617087
Tenorio Syndrome
Macrocephaly, Emotional lability, Hydrocephalus, Scoliosis, Delayed cranial suture closure, Cereb... OMIM:616260
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cogwheel rigidity, Gait ataxia, Dysph... OMIM:607346
Machado-Joseph Disease
Bradykinesia, Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Facial-lingual fascicula... OMIM:109150
Myoclonus, Intractable, Neonatal
Dandy-Walker malformation, Chorea, Athetosis, Microcephaly, Impaired oral bolus formation, Dyspha... OMIM:617235
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Scoliosis, Tremor, Loss of ambulation, Ataxia, Myoclonus OMIM:614018
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Hypertonia, Spasticity, Exaggerated startle response, Microcephaly, Short stature, ... OMIM:618367
Gabriele-De Vries Syndrome
Tip-toe gait, Tremor, Waddling gait, Lateral ventricle dilatation, Attention deficit hyperactivit... OMIM:617557
Noonan Syndrome 14
Limited elbow extension, Cubitus valgus, Kyphosis, Short stature, Lateral ventricle dilatation, S... OMIM:619745
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Scoliosis, Extra-axial cerebrospinal fluid accumulation, Microcephaly, H... OMIM:617669
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Hoffmann sign, Babinski sign, Difficulty walking, Fasciculations OMIM:620402
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Ventriculomegaly, Occipital encephalocele ORPHA:324416
Ceroid Lipofuscinosis, Neuronal, 8
Loss of ambulation, Ataxia, Myoclonus OMIM:600143
H Syndrome
Lymphadenopathy, Recurrent pharyngitis, Hydrocephalus, Chronic rhinitis, Decreased testicular siz... ORPHA:168569
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Secondary microcephaly, Babinski sign, Hydrocephalus, Spasticity, Abnormal pyramidal sign ORPHA:397951
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Wrist swelling, Abnormality of the wrist, Carpal osteolysis, Cachexia, Gait disturbance, Camptoda... ORPHA:2774
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Increased head circumference, Large for gestational age, Secondary microcephaly, Macrocephaly, La... OMIM:300868
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Irritability, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spa... ORPHA:282166
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Scoliosis, Compulsive behaviors, Intrauterine growth reta... ORPHA:177907
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Ataxia, Opisthotonus, Agenesi... OMIM:207950
Brachyolmia Type 1, Hobaek Type
Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Scoliosis, Flat a... OMIM:271530
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Peho-Like Syndrome
Progressive microcephaly, Ventriculomegaly, Myoclonus OMIM:617507
Ck Syndrome
Irritability, Hyperactivity, Scoliosis, Hyperlordosis, Kyphosis, Microcephaly, Slender build, Agg... OMIM:300831
Classic Galactosemia
Delayed puberty, Premature ovarian insufficiency, Male infertility, Gait imbalance, Depression, S... ORPHA:79239
Dystonia 28, Childhood-Onset
Tip-toe gait, Torticollis, Retrocollis, Spasticity, Tremor, Gait disturbance, Microcephaly, Short... OMIM:617284
Spinocerebellar Ataxia Type 1
Bradykinesia, Impaired proprioception, Progressive cerebellar ataxia, Gait imbalance, Abnormal br... ORPHA:98755
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Non-Specific Early-Onset Epileptic Encephalopathy
Difficulty walking, Limb hypertonia, Spasticity, Tremor, Impulsivity, Involuntary movements, Micr... ORPHA:442835
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Familial Cold Autoinflammatory Syndrome 3
Hashimoto thyroiditis, Recurrent otitis media, Allergic rhinitis OMIM:614468
Childhood-Onset Spasticity With Hyperglycinemia
Irritability, Hypertonia, Babinski sign, Spastic dysarthria, Loss of ability to walk in early chi... ORPHA:401866
Dentatorubral-Pallidoluysian Atrophy
Chorea, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Hydrocephalus, Sc... ORPHA:2635
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus OMIM:208700
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Impaired tactile sensation, Thoracic kyphosis, Tremor, Gait ataxia, Microcephaly, Ata... OMIM:619092
Schwartz-Jampel Syndrome
Spinal rigidity, Cachexia, Hyperlordosis, Abnormally ossified vertebrae, Kyphosis, Wrist flexion ... ORPHA:800
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Growth delay, Agenesis of corpus callosum, Lateral ventricle dilatation, Intrauter... OMIM:612863
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus, Somatic sen... ORPHA:98763
Joubert Syndrome With Renal Defect
Molar tooth sign on MRI, Oculomotor apraxia, Encephalocele, Hydrocephalus, Scoliosis, Tremor, Gai... ORPHA:220497
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent otitis media, Cholangitis, Chronic gastritis, Skin rash, Arthritis, Atopic dermatitis, ... ORPHA:183675
Autosomal Recessive Spastic Paraplegia Type 48
Spastic gait, Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Abnormali... ORPHA:306511
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Sandhoff Disease, Juvenile Form
Acroparesthesia, Fasciculations, Incoordination, Abnormality of extrapyramidal motor function, Ga... ORPHA:309162
Congenital Toxoplasmosis
Hydrocephalus, Microcephaly, Intrauterine growth retardation, Failure to thrive in infancy, Ventr... ORPHA:858
Pontocerebellar Hypoplasia, Type 7
Hypertonia, Oculomotor apraxia, Hydrocephalus, Progressive microcephaly, Tongue fasciculations, S... OMIM:614969
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Ethmoidal encephalocele, Impulsivity, Abnormal midbrain morphology... ORPHA:280195
Potocki-Shaffer syndrome
Delayed cranial suture closure DECIPHER:34
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Macrocephaly, Abnormality of the vertebral column, Hydrocephalus, Short stature, Agenesis of corp... OMIM:109120
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis, Gait disturbance, Prominent metopic ridge, Ataxia ORPHA:85317
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Scoliosis, Tremor, Ataxia, Attention deficit hyperactivity disorder OMIM:616421
1Q44 Microdeletion Syndrome
Hydrocephalus, Scoliosis, Biparietal narrowing, Prominent metopic ridge, Microcephaly, Short stat... ORPHA:238769
Hurler Syndrome
Hydrocephalus, Anteverted nares, Rhinitis, Splenomegaly, Wide nasal bridge, Depressed nasal bridge