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
Atypical Teratoid Rhabdoid Tumor
Cerebral palsy, Apathy, Ataxia, Irritability, Hydrocephalus, Macrocephaly, Cerebral calcification... ORPHA:99966
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Dystonia, Cerebral cortical hemiatrophy, Bradykinesia, Hemiparesis, Tremor, Depress... ORPHA:306669
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Short stature, Chronic rhiniti... OMIM:612649
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology, Abnormal corpus callosum morphology, Ventriculomegaly, Stereotypy,... OMIM:618709
Ciliary Dyskinesia, Primary, 6
Sinusitis, Abnormal respiratory motile cilium morphology, Absent/shortened outer dynein arms, Cil... OMIM:610852
Ciliary Dyskinesia With Excessively Long Cilia
Sinusitis, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Chronic rhinitis, I... OMIM:242680
Polymicrogyria Due To Tubb2B Mutation
Oromotor apraxia, Perisylvian polymicrogyria, Schizencephaly, Hypoplasia of the pons, Dysgenesis ... ORPHA:300573
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Ciliary Dyskinesia, Primary, 16
Pulmonary insufficiency, Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Absent outer dynei... OMIM:614017
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Failure to thrive in infancy, Inappropriate crying, Cerebral white mat... ORPHA:284417
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis OMIM:616481
Cach Syndrome
Secondary amenorrhea, Atrophy/Degeneration affecting the brainstem, Apathy, Irritability, Prematu... ORPHA:135
Masa Syndrome
Short stature, Paraplegia, Shuffling gait, Lower limb spasticity, Ventriculomegaly, Kyphosis, Mac... OMIM:303350
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:215520
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Short stature, Self-injurious behavior, Chorea, Bilateral generalized polymicrogyria, L... ORPHA:178469
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency, Ciliary dyskinesia, Rhinitis, Respiratory insufficiency due to defecti... OMIM:614874
Martsolf Syndrome 2
Short stature, Hypogonadotropic hypogonadism, Spastic diplegia, Camptodactyly of finger, Dilation... OMIM:619420
Ciliary Dyskinesia, Primary, 7
Ciliary dyskinesia, Bronchiectasis, Reduced FEV1/FVC ratio, Abnormal ciliary motility, Recurrent ... OMIM:611884
Ciliary Dyskinesia, Primary, 12
Ciliary dyskinesia, Bronchiectasis, Short stature, Chronic rhinitis, Chronic sinusitis, Abnormal ... OMIM:612650
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... OMIM:615294
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Abnormal respiratory system physiology, Ciliary dyskinesia, Chronic rhinitis, Absent r... OMIM:242670
Bilateral Generalized Polymicrogyria
Dystonia, Diffuse white matter abnormalities, Growth delay, Short stature, Self-injurious behavio... ORPHA:208447
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... OMIM:618695
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Dandy-Walker malformation, Delayed closure of the anterior fontanelle, Brachycephal... OMIM:618736
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Subcortical cerebral atrophy, Hydrocephalus, Cerebellar hypoplasia, Cerebral cortical hemiatrophy... ORPHA:2703
Alexander Disease
Progressive macrocephaly, Ataxia, Hydrocephalus, Spasticity, Increased CSF protein OMIM:203450
Ciliary Dyskinesia, Primary, 23
Productive cough, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic rhin... OMIM:615451
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dysgenesis of the hippocampus, Torticollis, Cubitus valgus, Spastic ataxia, Stereotypy, Postnatal... ORPHA:300570
Ciliary Dyskinesia, Primary, 27
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insufficiency due to defecti... OMIM:615504
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Absent central microtubular pair... OMIM:617091
Ciliary Dyskinesia, Primary, 14
Wheezing, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, R... OMIM:613807
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Recurrent otitis medi... OMIM:616726
Ciliary Dyskinesia, Primary, 20
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615067
Malan Overgrowth Syndrome
Plagiocephaly, Ventriculomegaly, Frontal bossing, Scaphocephaly, Macrocephaly, Hypoplasia of the ... ORPHA:420179
Ciliary Dyskinesia, Primary, 24
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Recurrent sinusitis OMIM:615481
Ciliary Dyskinesia, Primary, 9
Ciliary dyskinesia, Pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent otitis media, Cough, R... OMIM:612444
Ciliary Dyskinesia, Primary, 43
Productive cough, Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Chronic sinusi... OMIM:618699
Juvenile Huntington Disease
Dystonia, Neuronal loss in basal ganglia, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia,... ORPHA:248111
Christianson Syndrome
Dystonia, Cachexia, Conspicuously happy disposition, Inappropriate laughter, Stereotypy, Ventricu... ORPHA:85278
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Abnormal CSF pyruvate family amino acid concentration, Polymicrogy... ORPHA:79243
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... OMIM:615500
Microphthalmia-Brain Atrophy Syndrome
Inappropriate crying, Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem, Ton... ORPHA:77299
Spinocerebellar Ataxia 48
Parkinsonism, Babinski sign, Cachexia, Dystonia, Dysmetria, Chorea, Tremor, Ataxia, Irritability,... OMIM:618093
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Dystonia, Self-injurious behavior, Chorea, Myoclonus, Inability to walk, Hyperkinetic movements, ... OMIM:614254
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Ciliary dyskinesia, Bronchiectasis, Recurrent pne... OMIM:619436
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Ciliary Dyskinesia, Primary, 10
Abnormal respiratory motile cilium morphology, Chronic sinusitis, Recurrent sinusitis, Ciliary dy... OMIM:612518
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasis OMIM:615872
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Megalencephaly, Ventriculomegaly, Macrocephaly, Polymicrogyria, Hydrocephalus OMIM:615938
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Ciliary Dyskinesia, Primary, 17
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Bronchiectasis, Chronic rhinit... OMIM:614679
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Aggressive behavior, Simplified gyral pattern, Stereotypy, Tremor, Spa... OMIM:619470
Developmental And Epileptic Encephalopathy 56
Poor coordination, Ataxia, Broad-based gait, Anxiety, Attention deficit hyperactivity disorder, S... OMIM:617665
Ciliary Dyskinesia, Primary, 5
Sinusitis, Ciliary dyskinesia, Recurrent bronchitis, Rhinitis, Bronchiectasis, Respiratory insuff... OMIM:608647
Ciliary Dyskinesia, Primary, 28
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insufficiency due to defecti... OMIM:615505
Foxg1 Syndrome
Inappropriate crying, Abnormal respiratory system physiology, Short stature, Stereotypy, Decrease... ORPHA:561854
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Babinski sign, Scissor gait, Bradykinesia, Cogwheel rigidity, Resting tr... ORPHA:363654
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, B lymphocytopenia, Sinusitis, Rhinitis, Recurrent upper and lower respiratory ... ORPHA:70593
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Cerebellar dysplasia, Ventri... OMIM:604213
Severe X-Linked Intellectual Disability, Gustavson Type
Dandy-Walker malformation, Apneic episodes in infancy, Severe postnatal growth retardation, Small... ORPHA:3078
Ciliary Dyskinesia, Primary, 15
Wheezing, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, R... OMIM:613808
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Chronic rhinitis, Absent inner and outer dynein arms, Bronchiectasis OMIM:618801
Fried Syndrome
Gait disturbance, Thickened calvaria, Aggressive behavior, Spastic diplegia, Hydrocephalus, Cereb... ORPHA:85335
Holoprosencephaly 5
Lobar holoprosencephaly, Trigonocephaly, Holoprosencephaly, Syntelencephaly, Alobar holoprosencep... OMIM:609637
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hemimegalencephaly, Ventriculomegaly, Macrocephaly, Hydrocephalus, Polymicrogyria, Hypoplasia of ... OMIM:615937
Ciliary Dyskinesia, Primary, 13
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Absent outer dynein arms, Absent inner dynein arms OMIM:613193
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology, Bronchiectasis, Chronic rhinitis, Chronic sinusiti... ORPHA:922
Ciliary Dyskinesia, Primary, 30
Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to d... OMIM:616037
Combined Oxidative Phosphorylation Defect Type 39
Limb hypertonia, Atrophy/Degeneration affecting the brainstem, Corpus callosum atrophy, Cerebral ... ORPHA:565624
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Hydrocephalus, Wide nasal bridge OMIM:209970
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia, Allergic rhinitis, Conjunctivitis ORPHA:26137
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea, Macrocephaly, Hydrocephalus, Dilation of lateral ventricles, Agenesis of corpus callosum OMIM:300864
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:225050
Band Heterotopia
Subcortical band heterotopia, Ventriculomegaly, Macrocephaly, Hydrocephalus, Polymicrogyria, Spas... OMIM:600348
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Gait disturbance, Kinetic tremor, Normal pressure hydrocephalus, Ventriculomegaly, Tremor, Macroc... OMIM:611808
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Hemiparesis, Thick cerebral cortex, Dilation of lateral ventricles, Cortical... ORPHA:101071
Ciliary Dyskinesia, Primary, 25
Sinusitis, Chronic pulmonary obstruction, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Rec... OMIM:615482
Short stature, Atrophy/Degeneration affecting the brainstem, Elevated circulating thyroid-stimula... ORPHA:356961
Autosomal Recessive Spastic Paraplegia Type 53
Impaired proprioception, Clonus, Failure to thrive, Upper limb hypertonia, Ventriculomegaly, Kyph... ORPHA:319199
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Asthma OMIM:147050
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Pneumonia, Arthritis, Otitis media, T lymphocytopenia, Purulent rhinitis, Conj... OMIM:601457
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Limb hypertonia, Impaired pain sensation, Chorea, Aggressive behavior, Abnormality of e... ORPHA:500180
Spastic Paraplegia 18, Autosomal Recessive
Babinski sign, Gait disturbance, Upper limb spasticity, Lower limb spasticity, Kyphosis, Spastic ... OMIM:611225
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Anxiety, Scoliosis, Microcephaly, Myoclonus, Ventriculomegaly, Progressi... ORPHA:485350
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Bronchiectasis, Chronic otitis media, Rhinitis, Chronic sinusitis,... OMIM:618063
Pontocerebellar Hypoplasia, Type 13
Dandy-Walker malformation, Failure to thrive, Hypoplasia of the pons, Inability to walk, Hypoplas... OMIM:618606
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Poor gross motor coordination, Akinetic mutism, Cerebral palsy, Cerebral white matter atrophy, Ab... ORPHA:2148
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Dystonia, Short stature, Lower limb spasticity, Kyphosis, Hip dislocation, Ataxia, Waddling gait,... OMIM:616756
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Plagiocephaly, Aggressive behavior, Congenital hip dislocation, Abnormal corpus callosum morpholo... ORPHA:457279
Sagliker Syndrome
Short stature, Frontal bossing, Waddling gait, Anxiety, Depression ORPHA:300493
Ciliary Dyskinesia, Primary, 19
Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insufficiency due to defective ciliary ... OMIM:614935
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia ORPHA:251912
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Riboflavin Transporter Deficiency
Cachexia, Respiratory insufficiency, Aggressive behavior, Myoclonus, Hypogonadism, Tremor, Ataxia... ORPHA:97229
Huntington Disease
Clumsiness, Gait imbalance, Decreased body mass index, Apathy, Irritability, Cerebral atrophy, An... ORPHA:399
Pettigrew Syndrome
Dandy-Walker malformation, Choreoathetosis, Self-injurious behavior, Cerebral calcification, Vent... OMIM:304340
Ciliary Dyskinesia, Primary, 3
Neonatal respiratory distress, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis OMIM:608644
Genu varum, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular distance, Meg... OMIM:100800
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Cough, Nasal polyposis OMIM:617092
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Hypoplasia of the pons, Myoclonus, Cerebral cortical atrophy, Ventriculomegaly, Spastic... OMIM:617669
Intellectual Developmental Disorder, X-Linked 12
Gait disturbance, Small for gestational age, Short stature, Increased body mass index, Truncal ob... OMIM:300957
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Pelizaeus-Merzbacher Disease
Gait disturbance, Failure to thrive in infancy, Cachexia, Dystonia, Respiratory insufficiency, Sh... ORPHA:702
Autosomal Recessive Spastic Paraplegia Type 11
Progressive spasticity, Parkinsonism, Gait disturbance, Hypothalamic atrophy, Hyperintensity of c... ORPHA:2822
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Nasal polyposis, Asplenia, Pneumonia, Chronic otitis media, Chronic ... OMIM:244400
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, A... OMIM:607317
Atypical Rett Syndrome
Inappropriate crying, Episodic tachypnea, Panic attack, Gait disturbance, Abnormal pattern of res... ORPHA:3095
Central Neurocytoma
Babinski sign, Paresthesia, Ataxia, Hydrocephalus, Abnormal lateral ventricle morphology, Cerebra... ORPHA:73256
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Periventricular cysts, Abnormal CSF pyruvate family amino acid concentration, Abnormal corpus cal... ORPHA:255182
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Gait disturbance, Failure to thrive in infancy, Multifocal cerebral white matter abnormalities, G... ORPHA:488627
Distal Monosomy 10Q
Short stature, Postnatal growth retardation, Anxiety, Clonus, Frontal bossing, Hip dislocation, P... ORPHA:96148
Ciliary Dyskinesia, Primary, 2
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Absent inner and outer dynein arms, Respiratory di... OMIM:606763
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Myoclonus-Dystonia Syndrome
Dystonia, Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus, Personality d... ORPHA:36899
Mental Retardation, Autosomal Dominant 48
Dilated fourth ventricle, Stereotypy, Macrocephaly, Polymicrogyria, Dilation of lateral ventricle... OMIM:617751
Xfe Progeroid Syndrome
Cachexia, Poor coordination, Ventriculomegaly, Severe short stature, Scoliosis, Microcephaly OMIM:610965
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Short stature, Atrophy/Degeneration affecting the brainstem, Ventriculomegaly... OMIM:617862
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebellar atrophy, Cerebral white matter hypoplasia, Lissencephaly, Ventriculomegaly, Pachygyria... OMIM:618730
Baker-Gordon Syndrome
Involuntary movements, Dystonia, Choreoathetosis, Self-injurious behavior, Stereotypy, Ataxia, In... OMIM:618218
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Athetosis, Dystonia, Self-injurious behavior, Chorea, Ventriculomegaly, Hy... OMIM:617493
Persistent Idiopathic Facial Pain
Paresthesia, Impaired pain sensation, Anxiety, Depression, Somatic sensory dysfunction ORPHA:398147
Developmental And Epileptic Encephalopathy 69
Dystonia, Myoclonus, Spastic tetraplegia, Inability to walk, Macrocephaly, Hyperkinetic movements... OMIM:618285
Creutzfeldt-Jakob Disease
Myoclonus, Apathy, Extrapyramidal muscular rigidity, Hemiparesis, Irritability, Anxiety, Gait ata... OMIM:123400
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Plagiocephaly, Failure to thrive in infancy, Cachexia, Intrauterine growth retardation, Brachycep... OMIM:616801
Ciliary Dyskinesia, Primary, 22
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insufficiency due to defecti... OMIM:615444
Gómez-López-Hernández Syndrome
Short stature, Brachycephaly, Impaired pain sensation, Abnormal brainstem morphology, Ataxia, Tur... ORPHA:1532
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Emotional... OMIM:615362
Wars2-Related Combined Oxidative Phosphorylation Defect
Athetosis, Limb hypertonia, Cerebral white matter hypoplasia, Intrauterine growth retardation, Di... ORPHA:572798
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Myoclonus, Ventriculomegaly, Frontal bossing, Hydrocephalus, Spasticit... OMIM:617281
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Thin corpus callosum, Spasticit... OMIM:619517
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypertonia, Spasticity, Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Microc... OMIM:618890
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Short stature, Ventriculomegaly, Ataxia, Cerebral calcification, Microcephaly ORPHA:1933
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Weight loss, Slender build, Ataxia, Abnormal cerebral white matter morphology OMIM:613662
Huntington Disease-Like 2
Involuntary movements, Gait disturbance, Dystonia, Abnormal corpus striatum morphology, Caudate a... ORPHA:98934
Spermatogenic Failure 38
Oligospermia, Coiled sperm flagella, Tapered sperm head, Abnormal sperm head morphology, Absent s... OMIM:618433
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Frontal bossing, Orbital craniosynostosis, Hydrocephalus, Dolichocephaly ORPHA:1538
Ciliary Dyskinesia, Primary, 37
Wheezing, Goiter, Bronchiectasis, Chronic rhinitis, Rhinorrhea OMIM:617577
Ciliary Dyskinesia, Primary, 40
Rhinitis, Cough OMIM:618300
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Dystonia, Choreoathetosis, Myoclonus, Inability to walk, Hyperkinetic movements, Cerebral atrophy... OMIM:618497
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Rhizomelia, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron... ORPHA:401901
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Cerebellar cyst, Respiratory insufficiency, Cerebellar dysplasia, Hypo... OMIM:613153
Developmental And Epileptic Encephalopathy 36
Abnormality of extrapyramidal motor function, Hydrocephalus, Cerebral atrophy, Abnormal pyramidal... OMIM:300884
Aicardi-Goutieres Syndrome 9
Dystonia, Intrauterine growth retardation, Cerebral calcification, Failure to thrive, Weight loss... OMIM:619487
Juvenile Amyotrophic Lateral Sclerosis
Oromandibular dystonia, Clonus, Opisthotonus, Hypertonia, Scoliosis, Microcephaly, Dystonia, Cach... ORPHA:300605
Epilepsy, Early-Onset, Vitamin B6-Dependent
Clonus, Respiratory insufficiency, Myoclonus, Apnea, Ventriculomegaly, Hypertonia, Secondary micr... OMIM:617290
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Myoclonus, Abnormality of extrapyramidal motor function, Leukoencephalopathy, Ataxia, Cerebral at... OMIM:204300
Familial Alzheimer-Like Prion Disease
Anxiety, Attention deficit hyperactivity disorder, Emotional lability, Depression ORPHA:280397
1Q21.1 Microduplication Syndrome
Failure to thrive, Frontal bossing, Hip dislocation, Hypertonia, Macrocephaly, Hydrocephalus, Att... ORPHA:250994
D-2-Hydroxyglutaric Aciduria 1
Multifocal cerebral white matter abnormalities, Apnea, Subependymal cysts, Frontal bossing, Macro... OMIM:600721
Raynaud-Claes Syndrome
Aggressive behavior, Lower limb spasticity, Depression, Progressive cerebellar ataxia, Cerebral a... OMIM:300114
Felty Syndrome
Sinusitis, Neutropenia, Pericarditis, Episcleritis, Synovitis, Lymphadenopathy, Chronic otitis me... ORPHA:47612
Hsd10 Disease
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Ventriculomegaly, Tremor, Ataxia, Focal w... ORPHA:391417
Fanconi Anemia, Complementation Group R
Hydrocephalus, Microcephaly OMIM:617244
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Failure to thrive, Hydrocephalus, Microcephaly, Lethargy ORPHA:26
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Ventriculomegaly, Inability to walk, Spastic paraplegia, Cerebral hypoplasia, Hyp... OMIM:617977
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Short stature, Cerebral atrophy OMIM:616192
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Congenital hip dislocation, Ventriculomegaly, K... OMIM:618291
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Short stature, Abnormal vertebral morphology, Genu valgum, Frontal bossing, Macrocephaly, Molar t... ORPHA:166024
Rett Syndrome
Dystonia, Cachexia, Short stature, Apnea, Kyphosis, Truncal ataxia, Spasticity, Secondary microce... OMIM:312750
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Plagiocephaly, Dilated third ventricle, Partial agenesis of the corpus callosum, Limb hypertonia,... OMIM:617296
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Glutaric Acidemia I
Dystonia, Opisthotonus, Rigidity, Choreoathetosis, Failure to thrive, Spastic diplegia, Macroceph... OMIM:231670
Developmental And Epileptic Encephalopathy 37
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Hyperkinetic movements, Spasticity, Cereb... OMIM:616981
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Myoclonus, Fasciculations, Progressive cerebellar ataxia, Truncal ataxia... ORPHA:95434
Glut1 Deficiency Syndrome 1
Paralysis, Babinski sign, Paroxysmal dystonia, Choreoathetosis, Myoclonus, Paroxysmal lethargy, H... OMIM:606777
Dermatitis, Atopic
Atopic dermatitis, Eczema, Allergic rhinitis, Recurrent skin infections, Asthma, Conjunctivitis OMIM:603165
Arnold-Chiari Malformation Type Ii
Apnea, Paraparesis, Hydrocephalus, Polymicrogyria, Anxiety, Somatic sensory dysfunction, Meningoc... ORPHA:1136
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Short stature, Brachycephaly, Self-injurious behavior, Aggressive behavior, Slender build, Myoclo... OMIM:300699
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Plagiocephaly, Cachexia, Intrauterine growth retardation, Obstructive sleep apnea, Short stature,... ORPHA:371364
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Myoclonus, Tremor, Hypertonia, Irritability, Cerebral calcification, M... OMIM:261630
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Hyperintensity of cerebral whi... ORPHA:79326
Self-injurious behavior, Oromandibular dystonia, Apathy, Phonic tics, Frontal cortical atrophy, I... ORPHA:2388
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Neurofibrillary tangles, Apathy, Lewy bodies, Repetitive compulsive behavior, Hyper... OMIM:607485
Kohlschutter-Tonz Syndrome-Like
Intrauterine growth retardation, Upper limb spasticity, Brachycephaly, Obesity, Myoclonus, Lower ... OMIM:619229
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Epilepsy, Progressive Myoclonic, 9
Myoclonus, Scoliosis, Gait ataxia, Ventriculomegaly OMIM:616540
Optic Atrophy 11
Short stature, Dysmetria, Leukoencephalopathy, Ataxia, Hyperactivity, Macrocephaly, Hyperkinetic ... OMIM:617302
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Inappropriate crying, Self-injurious behavior, Progressive microcephaly, Hyperkinetic movements, ... ORPHA:397933
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Paresthesia, Short stature, Dysmetria, Hypogonadotropic hypogona... ORPHA:48431
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Short stature, Obesity, Aggressive behavior, Cubitus valgus, Kyphosis, Hypogonadism, Tr... ORPHA:85293
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Babinski sign, Impaired temperature sensation, Increased laxity of ankles, Pares... ORPHA:99947
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Inappropriate behavior, Abulia, Aggressive behavior, Apathy, Abnormality of ext... ORPHA:275864
Hao-Fountain Syndrome
Large fontanelles, Trigonocephaly, Aggressive behavior, Speech apraxia, Central sleep apnea, Apra... OMIM:616863
Intellectual Developmental Disorder, X-Linked 63
Anxiety, Microcephaly OMIM:300387
Moynahan Syndrome
Hypogonadism, Cachexia, Short stature, Microcephaly ORPHA:2574
Hypotonia, Infantile, With Psychomotor Retardation
Dilation of lateral ventricles, Respiratory insufficiency due to muscle weakness, Hypoplasia of t... OMIM:616816
Lissencephaly 5
Subcortical band heterotopia, Cerebellar hemisphere hypoplasia, Leukoencephalopathy, Cerebellar v... OMIM:615191
Infantile Krabbe Disease
Increased head circumference, Cachexia, Hypointensity of cerebral white matter on MRI, Opisthoton... ORPHA:206436
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Cerebral palsy, Aggressive behavior, Stereotypy, Hypertonia, Joint contr... OMIM:618914
Clumsiness, Decreased body weight, Abnormal lateral ventricle morphology ORPHA:324422
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear/anxiety-related behavior, Pseudobulbar paralysis, Suicidal ideation, Aggressive beh... ORPHA:208441
Intellectual Developmental Disorder, X-Linked 103
Dilation of lateral ventricles, Polymicrogyria OMIM:300982
Congenital Disorder Of Glycosylation, Type In
Respiratory insufficiency, Short stature, Failure to thrive, Myoclonus, Ataxia, Spasticity, Short... OMIM:612015
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Dystonia, Rigidity, Choreoathetosis, Torticollis, Chorea, Paroxysmal dyski... ORPHA:98810
16P13.2 Microdeletion Syndrome
Dilated third ventricle, Short stature, Hydrocephalus, Sleep apnea, Plagiocephaly, Gait disturban... ORPHA:500055
Dopa-Responsive Dystonia
Irritability, Panic attack, Anxiety, Oculogyric crisis, Lethargy, Gait disturbance, Poor coordina... ORPHA:255
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Cachexia, Short stature, Chorea, Self-mutilation, Ataxia, Hypertonia, Hypera... ORPHA:52503
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements, Dolichocephaly OMIM:618425
Dandy-Walker Syndrome
Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Dilated fourth ventricle, Po... OMIM:220200
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Self-injurious behavi... ORPHA:544488
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Intrauterine growth retardation, Gait imbalance, Growth delay, Gait ataxia, Abnormal lateral vent... ORPHA:488635
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Abnormal fear/anxiety-related behavior, Short stature, Kyphoscoliosis, Aggressive b... ORPHA:3077
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Neonatal respiratory distress, Asplenia, Bronchiectasis, Chronic otit... ORPHA:244
Spinocerebellar Ataxia Type 2
Postural tremor, Dystonia, Abnormal cortical gyration, Kinetic tremor, Chorea, Cerebral white mat... ORPHA:98756
Dystonia 11, Myoclonic
Writer's cramp, Agoraphobia, Torticollis, Myoclonus, Tremor, Anxiety, Depression OMIM:159900
Diencephalic Syndrome
Cachexia, Decreased body weight, Hydrocephalus ORPHA:1672
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Short stature, Aggressive behavior, Simplified gyral pattern, Kyphosis, Hypogonadism... OMIM:300354
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Babinski sign, Respiratory insufficiency, Failure to thrive, Dysmetria, Aggressive behavior, Myoc... OMIM:618356
Aicardi-Goutieres Syndrome 4
Dystonia, Intrauterine growth retardation, Respiratory insufficiency, Cerebral calcification, CSF... OMIM:610333
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Dystonia, Central apnea, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia... ORPHA:71277
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Respiratory insufficiency due to muscle weakness, Kyphosis, Distal sensory impairment, Scoliosis,... OMIM:617087
Leukopenia, Lymphadenopathy, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage morphology, Panc... ORPHA:507
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia, Respiratory insufficiency, Spinal rigidity, Hyperlordosis ORPHA:157973
Huntington Disease-Like 2
Dystonia, Rigidity, Chorea, Weight loss, Apathy, Bradykinesia, Irritability, Action tremor, Anxie... OMIM:606438
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebral wh... ORPHA:352682
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Short stature, Colpocephaly, Apnea, Cervical spinal canal stenosis, Smal... ORPHA:397715
Glycine Encephalopathy
Aggressive behavior, Myoclonus, Hyperactivity, Irritability, Impulsivity, Agenesis of corpus call... OMIM:605899
Congenital Hydrocephalus
Abnormal cortical gyration, Small cerebral cortex, Colpocephaly, Ventriculomegaly, Frontal bossin... ORPHA:2185
Spastic Paraplegia 46, Autosomal Recessive
Upper limb dysmetria, Babinski sign, Knee clonus, Infertility, Upper limb spasticity, Spastic par... OMIM:614409
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Pneumonia, Monocytosis, Leukemia, Rhinitis, Recurrent ... ORPHA:486
O'Donnell-Luria-Rodan Syndrome
Skin-picking, Self-injurious behavior, Aggressive behavior, Abnormal corpus callosum morphology, ... OMIM:618512
Developmental And Epileptic Encephalopathy 1
Dystonia, Growth delay, Choreoathetosis, Ventriculomegaly, Spastic tetraparesis, Hypertonia, Abno... OMIM:308350
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia, Gait ataxia OMIM:612075
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Apnea, Abnormality o... ORPHA:99852
Pontocerebellar Hypoplasia Type 4
Central apnea, Olivopontocerebellar hypoplasia, Myoclonus, Primary microcephaly, Hypertonia, Hypo... ORPHA:166063
Spinocerebellar Ataxia 12
Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head... OMIM:604326
Mulibrey Nanism
Cachexia, Macrocephaly, Intrauterine growth retardation, Short stature ORPHA:2576
Hydrocephalus, Congenital, 3, With Brain Anomalies
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus OMIM:617967
Spinocerebellar Ataxia 17
Dystonia, Rigidity, Dysmetria, Chorea, Aggressive behavior, Myoclonus, Bradykinesia, Positive Rom... OMIM:607136
Postencephalitic Parkinsonism
Happy demeanor, Abnormal respiratory system physiology, Paresthesia, CSF lymphocytic pleiocytosis... ORPHA:97349
Flynn-Aird Syndrome
Cachexia, Impaired pain sensation, Kyphosis, Ataxia, Cerebral calcification, Scoliosis, Cerebral ... ORPHA:2047
Intrauterine growth retardation, Short stature, Cerebral white matter atrophy, Atrophy/Degenerati... ORPHA:263487
Adult Krabbe Disease
Clumsiness, Hemiplegia, Somatic sensory dysfunction, Gait disturbance, Abnormality of the medulla... ORPHA:206448
Huntington Disease-Like 1
Rigidity, Dysmetria, Chorea, Aggressive behavior, Basal ganglia gliosis, Incoordination, Unsteady... OMIM:603218
Bainbridge-Ropers Syndrome
Intrauterine growth retardation, Metopic synostosis, Large fontanelles, Growth delay, Trigonoceph... OMIM:615485
Caribbean Parkinsonism
Dystonia, Midline brain calcifications, Weakness due to upper motor neuron dysfunction, Rigidity,... ORPHA:97355
Ceroid Lipofuscinosis, Neuronal, 1
Myoclonus, Ataxia, Progressive microcephaly, Irritability, Spasticity, Cerebral atrophy, Secondar... OMIM:256730
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Upper limb spasticity, Short stature, Decreased response to growth hormone stim... ORPHA:457240
Craniofacial Dyssynostosis
Short stature, Craniosynostosis, Frontal bossing, Short neck, Sacral dimple, Macrocephaly, Hydroc... ORPHA:1516
Neuropathy, Congenital Hypomyelinating, 3
Babinski sign, Cachexia, Dystonia, Respiratory insufficiency, Spasticity, Dolichocephaly, Hypopla... OMIM:618186
Alexander Disease
Self-injurious behavior, Hydrocephalus, Sleep apnea, Abnormal pyramidal sign, Gait disturbance, C... ORPHA:58
Combined Saposin Deficiency
Babinski sign, Myoclonus, Fasciculations, Hyperkinetic movements, Abnormal periventricular white ... OMIM:611721
Developmental And Epileptic Encephalopathy 92
Dystonia, Myoclonus, Ataxia, Inability to walk, Spasticity, Secondary microcephaly, Difficulty wa... OMIM:617829
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Short stature, Cerebral white matter atrophy, Lower limb spasticity, Kyphosis, Hip disl... ORPHA:464282
Huntington Disease-Like 1
Clumsiness, Involuntary movements, Gait disturbance, Frequent falls, Dysmetria, Chorea, Weight lo... ORPHA:157941
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Respiratory insufficiency, Hypoplasia of the pons, Fasciculations... OMIM:607596
Pontocerebellar Hypoplasia, Type 15
Dystonia, Partial agenesis of the corpus callosum, Spastic tetraplegia, Simplified gyral pattern,... OMIM:619302
Autosomal Recessive Spastic Paraplegia Type 66
Limb hypertonia, Colpocephaly, Spastic gait, Lower limb spasticity, Impaired vibration sensation ... ORPHA:401815
Hurler-Scheie Syndrome
Rhinitis, Splenomegaly ORPHA:93476
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Failure to thrive, Aggressive behavior, Stereotypy, Hyperactivity, Anx... OMIM:609425
Familial Infantile Bilateral Striatal Necrosis
Babinski sign, Gait disturbance, Dystonia, Rigidity, Choreoathetosis, Failure to thrive, Frequent... ORPHA:225154
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Myoclonus, Abnormal caudate... ORPHA:314632
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Sinusitis, Neutropenia, Neutropenia in presence of anti-neutropil antibod... ORPHA:572
Joubert Syndrome 13
Pachygyria, Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Flexion contracture of thumb, Absent septum pellucidum, Macrocephaly, Hydrocephalus, Spasticity, ... OMIM:307000
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Frontotemporal cerebral atrophy, Inappropriate behavior, Apathy, Bradykinesia, Shuffling gait, Fa... ORPHA:412066
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Spastic hemiparesis, Focal T2 hyperintense basal ganglia lesion, Apathy, Irritability... ORPHA:282166
Dystonia 23
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Cerebral c... OMIM:614860
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Short stature, Failure to thrive, Self-injurious behavior, Stereotypy, M... OMIM:619575
Childhood-Onset Benign Chorea With Striatal Involvement
Abnormal corpus striatum morphology, Chorea, Parkinsonism with favorable response to dopaminergic... ORPHA:494541
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Decreased CSF homovanillic aci... OMIM:605407
Cranial asymmetry, Hemimegalencephaly, Myoclonus, Hemiparesis, Ventriculomegaly, Pachygyria, Macr... ORPHA:99802
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Frequent falls, Ventriculomegaly, Kyphosis, Pachygyria, Hyperlordosis, Tip-toe ... OMIM:606612
Narp Syndrome
Babinski sign, Myoclonic spasms, Short stature, Progressive gait ataxia, Ventriculomegaly, Ataxia... ORPHA:644
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Agenesis of corpus callosum, Aggressive behavior, Pulmonary arterial hyp... ORPHA:464738
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Absent hippocampal commissure, Abnormality of the anterior commissure, Hypoplasia of the pons, He... OMIM:617542
Paresthesia, Cerebral palsy, Vocal cord paresis, Anxiety, Attention deficit hyperactivity disorde... ORPHA:770
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Rigidity, Platyspondyly, Spastic tetraplegia, Ventriculomegaly, Kyphosis, Ataxia, Macrocephaly, H... OMIM:618476
X-Linked Intellectual Disability, Wilson Type
Dilation of lateral ventricles, Growth delay, Microcephaly, Brachycephaly ORPHA:85290
Nasu-Hakola Disease
Chorea, Ventriculomegaly, Oculomotor apraxia, Irritability, Hydrocephalus, Disinhibition, Spastic... ORPHA:2770
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... ORPHA:101150
Intellectual Developmental Disorder, X-Linked 30
Clumsiness, Short stature, Aggressive behavior, Hyperactivity, Hydrocephalus, Anxiety, Microcephaly OMIM:300558
Clumsiness, Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Tics, Ir... ORPHA:66624
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Myoclonus, Decreased CSF homovanillic acid, Progressive microcephaly, Hyperton... OMIM:610090
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Gait disturbance, Deep cerebral white matter hyperintensities, Akinetic mutism, Rigidity, Pseudob... ORPHA:199354
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Myoclonus, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression, Diff... OMIM:619191
Polymyoclonus, Infantile
Ataxia, Myoclonus, Irritability OMIM:263550
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Apnea, Subependymal cysts, Decreased CSF glutamine concentration, ... OMIM:610015
Scheuermann Disease
Morbus Scheuermann, Osteochondrosis, Kyphosis OMIM:181440
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Abnormal pyramidal ... OMIM:615924
Sporadic Creutzfeldt-Jakob Disease
Babinski sign, Cerebral atrophy, Akinetic mutism, Recurrent aspiration pneumonia, Hyperintensity ... ORPHA:204
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Gait disturbance, Dystonia, Inappropriate behavior, Rigidity, Aggressive behavior,... OMIM:600795
Dystonia 28, Childhood-Onset
Gait disturbance, Dystonia, Short stature, Torticollis, Oromandibular dystonia, Myoclonus, Retroc... OMIM:617284
Temple Syndrome
Relative macrocephaly, Small for gestational age, Short stature, Frontal bossing, Postnatal growt... ORPHA:254516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hypoplasia of the pons, Ventriculomegaly, Hydrocephalus, Type II lisse... OMIM:613154
Frontal Encephalocele
Macrocephaly, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Spina bifida, Cerebral ca... ORPHA:1931
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydranencephaly, Intrauterine growth retardation, Ventriculomegaly, Hy... OMIM:225790
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Perisylvian polymicrogyria, Short stature, Kyphosis, Ataxia, Inability to walk, Spasticity, Cereb... OMIM:618443
Cutis Laxa, Autosomal Recessive, Type Iib
Intrauterine growth retardation, Large fontanelles, Failure to thrive, Congenital hip dislocation... OMIM:612940
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Combined Oxidative Phosphorylation Deficiency 6
Involuntary movements, Respiratory insufficiency due to muscle weakness, Fasciculations, Tetraple... OMIM:300816
Developmental And Epileptic Encephalopathy 16
Dystonia, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Cerebral atrophy,... OMIM:615338
Wolfram-Like Syndrome
Respiratory insufficiency, Severe postnatal growth retardation, Progressive cerebellar ataxia, Ma... ORPHA:411590
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Apneic episodes in infancy, Abnormal cerebral cortex morphology, Agene... ORPHA:163961
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Metopic synostosis, Trigonocephaly, Craniosynostosis, Joint contract... OMIM:175700
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Small basal ganglia, Respiratory insufficiency, Abnormal brainstem MRI signal intensity, Abnormal... ORPHA:263410
Migraine, Familial Hemiplegic, 1
Hemiparesis, Tremor, Ataxia, Hemiplegia, Anxiety OMIM:141500
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Elevated CSF 4-hydroxybutyric acid concentration, A... OMIM:271980
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Babinski sign, Gait disturbance, Caudate atrophy, Myoclonus, Leukoencephalopathy, Disinhibition, ... OMIM:618193
Prader-Willi Syndrome Due To Translocation
Flat occiput, Skin-picking, Happy demeanor, Intrauterine growth retardation, Short stature, Anxie... ORPHA:177907
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Periodontitis, Hydrocephalus ORPHA:1008
Pontocerebellar Hypoplasia, Type 2E
Opisthotonus, Short stature, Failure to thrive, Myoclonus, Spastic tetraplegia, Ventriculomegaly,... OMIM:615851
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Apnea, Choreoathetosis, Bradykinesia, Spastic tetraplegia, Wrist flexion contracture, Short neck,... OMIM:300055
4Q21 Microdeletion Syndrome
Intrauterine growth retardation, Growth delay, Large fontanelles, Self-injurious behavior, Kyphos... ORPHA:238750
Mental Retardation, Autosomal Dominant 57
Short stature, Craniosynostosis, Kyphosis, Tip-toe gait, Anxiety, Attention deficit hyperactivity... OMIM:618050
Mental Retardation With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Self-injurious behavior, Aggressive behavior, Speech apraxia, Stere... OMIM:613670
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Gait disturbance, Inappropriate behavior, Caudate atrophy, Aggressive behavior, My... OMIM:221770
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Perisylvian polymicrogyria, Megalencephaly, Abnormal vertebral morp... ORPHA:280195
Tenorio Syndrome
Clumsiness, Gait disturbance, Pneumonia, Cerebral palsy, Apnea, Ventriculomegaly, Cavum septum pe... OMIM:616260
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
X-Linked Intellectual Disability, Stocco Dos Santos Type
Short stature, Small for gestational age, Congenital bilateral hip dislocation, Kyphosis, Hyperac... ORPHA:85288
Whipple Disease
Cachexia, Respiratory insufficiency, Myoclonus, Erectile dysfunction, Arthritis, Cough, Ataxia, H... ORPHA:3452
Abnormality of the basal ganglia, Caudate atrophy, Bradykinesia, Iron accumulation in globus pall... ORPHA:157846
Peho-Like Syndrome
Myoclonus, Ventriculomegaly, Pachygyria, Progressive microcephaly, Hypoplasia of the corpus callo... OMIM:617507
Paroxysmal Hemicrania
Rhinitis, Rhinorrhea, Focal sensory seizure with olfactory features ORPHA:157835
Autosomal Recessive Spastic Paraplegia Type 48
Spastic gait, Myoclonus, Lower limb spasticity, Abnormality of the cervical spine, Ataxia, Broad-... ORPHA:306511
Cervical spinal canal stenosis, Hydrocephalus, Limited elbow extension, Restrictive ventilatory d... ORPHA:15
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Intrauterine growth retardation, Growth delay, Rigidity, Small for... OMIM:619057
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Failure to thrive, Myoclonus, Irritability, Microcephaly OMIM:609056
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Failure to thrive in infancy, Dystonia, Short stature, Myoclonus, Increased CSF al... OMIM:619065
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Dilated fourth ventricle, Posterior fossa cyst at the fourth ventricle... OMIM:220220
Ck Syndrome
Aggressive behavior, Slender build, Kyphosis, Hyperactivity, Pachygyria, Irritability, Polymicrog... OMIM:300831
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Short stature, Kyphosis, Hyperactivity, Hip dislocation, Scoliosis, Microcephaly OMIM:300434
Temple Syndrome
Intrauterine growth retardation, Small for gestational age, Short stature, Truncal obesity, Front... OMIM:616222
Developmental And Epileptic Encephalopathy 6B
Dystonia, Choreoathetosis, Chorea, Myoclonus, Stereotypy, Ataxia, Inability to walk, Hypoplastic ... OMIM:619317
Lopes-Maciel-Rodan Syndrome
Dystonia, Caudate atrophy, Bradykinesia, Kyphosis, Tremor, Hypertonia, Ankle clonus, Spasticity, ... OMIM:617435
Autosomal Spastic Paraplegia Type 58
Short stature, Torticollis, Spastic ataxia, Fasciculations, Cerebral atrophy, Abnormal pyramidal ... ORPHA:397946
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonus, Abnormality of extrapyramidal motor function, Ataxia, Parkinsonism, Depression OMIM:162350
Chromosome 6Q24-Q25 Deletion Syndrome
Intrauterine growth retardation, Growth delay, Probst bundles, Frontal bossing, Respiratory distr... OMIM:612863
Craniosynostosis, Elbow ankylosis, Hydrocephalus, Cloverleaf skull OMIM:148800
17P11.2 Microduplication Syndrome
Short stature, Failure to thrive, Speech apraxia, Poor fine motor coordination, Sleep apnea, Anxi... ORPHA:1713
Yellow Nail Syndrome
Sinusitis, Bronchiectasis, Rhinitis, Pulmonary arterial hypertension, Cough, Dyspnea ORPHA:662
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Craniosynostosis, Spastic ataxia, Stereotypy, Anxiety, Attention deficit hyperactivity disorder, ... OMIM:618906
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Ciliary dyskinesia ORPHA:1882
Joubert Syndrome 31
Ventriculomegaly, Oculomotor apraxia, Molar tooth sign on MRI, Truncal ataxia, Hypoplasia of the ... OMIM:617761
Spinocerebellar Ataxia Type 1
Postural tremor, Gait disturbance, Dystonia, Impaired proprioception, Gait imbalance, Dysmetria, ... ORPHA:98755
Coach Syndrome 2
Apneic episodes in infancy, Hypertension, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, ... OMIM:619111
Perry Syndrome
Parkinsonism, Respiratory arrest, Dystonia, Inappropriate behavior, Respiratory insufficiency, Ri... OMIM:168605
Mcdonough Syndrome
Cachexia, Scoliosis, Short stature, Kyphosis ORPHA:2471
Spinal Muscular Atrophy, Jokela Type
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations OMIM:615048
Ataxia-Telangiectasia-Like Disorder
Dystonia, Short stature, Frequent falls, Dilated fourth ventricle, Dysmetria, Chorea, Myoclonus, ... ORPHA:251347
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Myoclonus, Hypertonia, Hypoplasia of the brainstem, Spasticity, Respirato... OMIM:225753
Posttransplant Acute Limbic Encephalitis
Dystonia, Hyperglycorrhachia, CSF polymorphonuclear pleocytosis, Myoclonus, CSF lymphocytic pleio... ORPHA:163921
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Amenorrhea, Ataxia, Premature ovarian insufficiency, Anxiety, Depression, Difficulty walking, Cer... OMIM:619425
Progressive Myoclonic Epilepsy With Dystonia
Dystonia, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Hemiplegia, Abnor... ORPHA:352596
Autosomal Recessive Cutis Laxa Type 2A
Dandy-Walker malformation, Athetosis, Dystonia, Dysplastic corpus callosum, Intrauterine growth r... ORPHA:357058
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Midface retrusion, Brachycephaly, Unilambdoid synostosis, Ventriculomegaly, Hydroc... OMIM:618577
Pontocerebellar Hypoplasia, Type 6
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Apnea, Progressive microcephaly... OMIM:611523
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Disproportionate short stature, Central apnea, Megalencephaly, Rhizomelia, Pulmonary arterial hyp... OMIM:616482
Mental Retardation, Autosomal Dominant 26
Small for gestational age, Brachycephaly, Cerebral palsy, Short stature, Kyphosis, Hypertonia, Sc... OMIM:615834
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Cerebral atrophy, Anxiety, Hypoplasia of the corpus callosum, Microcephaly, Impuls... OMIM:616977
Progressive Myoclonic Epilepsy Type 1
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia ORPHA:308
Mitochondrial Complex I Deficiency, Nuclear Type 31
Failure to thrive, Dysmetria, Myoclonus, Ventriculomegaly OMIM:618251
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dystonia, Dysmetria, Aggressive behavior, Bradykinesia, Tremor, Ataxia, Dysdiadoch... OMIM:615157
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Happy demeanor, Limb hypertonia, Apnea, Stereotypy, Thin corpus callosum, Anxiety, Recurrent hand... OMIM:619580
Congenital Muscular Dystrophy With Cerebellar Involvement
Cerebellar cyst, Diffuse white matter abnormalities, Dilated fourth ventricle, Hypoplasia of the ... ORPHA:370959
Williams-Beuren Region Duplication Syndrome
Gait disturbance, Short stature, Brachycephaly, Decreased response to growth hormone stimulation ... OMIM:609757
Congenital Muscular Dystrophy, Fukuyama Type
Plagiocephaly, Gait disturbance, Intrauterine growth retardation, Brachycephaly, Ventriculomegaly... ORPHA:272
Autosomal Dominant Dopa-Responsive Dystonia
Postural tremor, Parkinsonism, Babinski sign, Rigidity, Torticollis, Abnormality of extrapyramida... ORPHA:98808
Proximal 16P11.2 Microduplication Syndrome
Hemivertebrae, Short stature, Failure to thrive, Decreased body mass index, Frontal bossing, Trem... ORPHA:370079
Craniotelencephalic Dysplasia
Arrhinencephaly, Septo-optic dysplasia, Craniosynostosis, Frontal bossing, Hydrocephalus, Lissenc... ORPHA:1528
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Short stature, Kyphosis, Waddling gait, Delayed ossification of carpal... OMIM:618392
Gm1-Gangliosidosis, Type Iii
Dystonia, Short stature, Hypoplastic acetabulae, Platyspondyly, Kyphosis, Slurred speech, Diffuse... OMIM:230650
Parastremmatic Dwarfism
Kyphosis, Severe short stature, Genu valgum, Short neck, Scoliosis OMIM:168400
Dystonia 6, Torsion
Lingual dystonia, Writer's cramp, Torticollis, Oromandibular dystonia, Myoclonus, Laryngeal dysto... OMIM:602629
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Dandy-Walker malformation, Relative macrocephaly, Short stature, Brachycephaly, Trigonocephaly, A... ORPHA:459061
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Babinski sign, Hydrocephalus, Spasticity, Cerebral atrophy, Abnormal pyramidal sign, Secondary mi... ORPHA:397951
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Hypoplasia of the pons, Ventriculomegaly, Cerebellar vermis hypoplasia, Hyp... ORPHA:101070
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Clonus, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Abnormality of extr... ORPHA:13
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma ORPHA:330064
Combined Oxidative Phosphorylation Deficiency 14
Growth delay, Atrophy/Degeneration affecting the brainstem, Myoclonus, Ventriculomegaly, Cerebral... OMIM:614946
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Short stature, Cerebral palsy, Joint contracture of the hand, Kyphosis... ORPHA:352490
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, Myoclonus, Cerebral atrophy OMIM:600143
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Central sleep apnea, Tremor,... ORPHA:79262
Weaver Syndrome
Limited knee extension, Joint contracture of the hand, Absent septum pellucidum, Kyphosis, Hypert... OMIM:277590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Anemia, Osteomyelitis, Hepatosplenomegaly, Mandibula... OMIM:259710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Leukoencephalopathy, Polymicrogyri... OMIM:615181
Autosomal Recessive Ataxia, Beauce Type
Clumsiness, Babinski sign, Gait disturbance, Arm dystonia, Dysmetria, Atrophy/Degeneration affect... ORPHA:88644
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Paresthesia, Hypogonadotropic hypogonadism, Weight loss, Leukoencephalopathy, Abnormal ... ORPHA:298
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Large fontanelles, Respiratory distress, Dyspnea, Respiratory fa... ORPHA:1832
Spinocerebellar Ataxia Type 37
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... ORPHA:363710
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Emotional lability, Parkinsonis... ORPHA:71517
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Dystonia, Partial agenesis of the corpus callosum, Hyperintensity of cerebral white matter on MRI... ORPHA:500144
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Spasticity, Hydrocephalus, Microcephaly OMIM:304100
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Gerstmann-Straussler Disease
Rigidity, Neurofibrillary tangles, Aggressive behavior, Weight loss, Myoclonus, Bradykinesia, Tre... OMIM:137440
Glutaryl-Coa Dehydrogenase Deficiency
Increased head circumference, Abnormality of the basal ganglia, T2 hypointense basal ganglia, Pal... ORPHA:25
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Kyphosis, ... ORPHA:40
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Gomez-Lopez-Hernandez Syndrome
Short stature, Brachycephaly, Self-injurious behavior, Craniosynostosis, Skull asymmetry, Wormian... OMIM:601853
Jaberi-Elahi Syndrome
Dystonia, Choreoathetosis, Failure to thrive, Dysmetria, Kyphosis, Tremor, Inability to walk, Spa... OMIM:617988
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Weakness due to upper motor neuron dysfunction, Apathy, Abnormality of extrapyrami... ORPHA:275872
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Stereotypy, Polymicrogyria, Camptodactyly of finger, Cerebral atrophy, C... ORPHA:468631
Adenylosuccinase Deficiency
Happy demeanor, Opisthotonus, Growth delay, Brachycephaly, Aggressive behavior, Self-mutilation, ... OMIM:103050
Mental Retardation, Autosomal Recessive 41
Stereotypy, Frontal bossing, Scaphocephaly, Macrocephaly, Anxiety, Dolichocephaly OMIM:615637
Myoclonus, Familial, 1
Ataxia, Myoclonus, Falls, Frequent falls OMIM:614937
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Limb myoclonus, Recurrent aspiration pneumonia, Frequent falls, Respiratory insuffici... ORPHA:2590
Multiple System Atrophy, Cerebellar Type
Postural tremor, Parkinsonism, Stridor, Axial dystonia, Rigidity, Frequent falls, Apathy, Bradyki... ORPHA:227510
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Dystonia, Punctate periventricular T2 hyperintense foci, ... ORPHA:309246
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Knee flexion contracture, Fasciculations, Waddling gait, Hyperlordosis, Spasticity, Tip-toe gait OMIM:615290
Pontocerebellar Hypoplasia, Type 2B
Babinski sign, Clonus, Dystonia, Limb hypertonia, Opisthotonus, Chorea, Extrapyramidal dyskinesia... OMIM:612389
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Flat occiput, Happy demeanor, Gait imbalance, Limitation of movement at ankles, Mild microcephaly... ORPHA:98794
Thanatophoric Dysplasia
Intrauterine growth retardation, Respiratory insufficiency, Cloverleaf skull, Abnormal sacroiliac... ORPHA:2655
Kleefstra Syndrome 2
Plagiocephaly, Growth delay, Self-injurious behavior, Kyphosis, Midface retrusion, Scoliosis, Mic... OMIM:617768
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Anemia, Splenomegaly, Skin rash, Asthma, Anemia of inadequate production OMIM:612714
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Abnormality of the vertebral column, Dystonia, Abnormal vertebral morphology, Dysmetria, Myoclonu... OMIM:250620
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology, Growth delay, Simplified gyral pattern, Abnormal cerebral cortex m... ORPHA:411493
48,Xxyy Syndrome
Flat occiput, Infertility, Azoospermia, Obesity, Apnea, Depression, Ventriculomegaly, Stereotypy,... ORPHA:10
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Involuntary movements, Gait disturbance, Dystonia, Chorea, Myoclonus, Ataxia, Craniofacial dyston... OMIM:617282
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Mend Syndrome
Dandy-Walker malformation, Short stature, Kyphosis, Hyperactivity, Hypertonia, Hydrocephalus, Mid... OMIM:300960
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Parkinsonism, Stridor, Axial dystonia, Rigidity, Frequent falls, Apathy, Bradyki... ORPHA:98933
Microtriplication 11Q24.1
Short stature, Joint dislocation, Speech apraxia, Genu valgum, Hyperkinetic movements, Obesity, S... ORPHA:289522
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Limb hypertonia, Rigidity, Short stature, Failure to thrive, Myoclonus, Ab... ORPHA:442835
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Frontal bossing, Hyperactivity, Thoracic kyphosis, ... OMIM:619467
Parkinsonism With Polyneuropathy
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:619279
Joubert Syndrome 32
Large for gestational age, Frontal bossing, Oculomotor apraxia, Ataxia, Macrocephaly, Polymicrogy... OMIM:617757
Joubert Syndrome 7
Central apnea, Brainstem dysplasia, Tachypnea, Abnormal corpus callosum morphology, Episodic tach... OMIM:611560
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Short stature, Kyphosis, Frontal bossing, Depression, Obesity, Scoliosis, Bipolar affective disorder ORPHA:276630
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Cole-Carpenter Syndrome 2
Short stature, Wormian bones, Platyspondyly, Kyphosis, Frontal bossing, Macrocephaly, Turricephal... OMIM:616294
Cdkl5-Deficiency Disorder
Gait disturbance, Abnormal respiratory system physiology, Growth delay, Impaired pain sensation, ... ORPHA:505652
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Gait disturbance, Shoulder dislocation, Kyphosis, Frontal bossing, Hydrocephalus, Hemiplegia, Sco... ORPHA:2181
Alazami Syndrome
Severe short stature, Anxiety, Decreased body weight, Scoliosis, Microcephaly OMIM:615071
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Absent septum pellucidum, Hydrocephalus, Spasticity, Aqueductal stenosis, Agen... ORPHA:2182
Failure to thrive, Hyperkinetic movements OMIM:277100
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short stature, Azoospermia, Cubitus valgus, Hydrocephalus, Hypergonadotropic hypogonadism, Obesit... ORPHA:2183
Sandhoff Disease
Failure to thrive, Ataxia, Macrocephaly, Kyphosis ORPHA:796
Mitochondrial Complex I Deficiency, Nuclear Type 19
Athetosis, Gait disturbance, Respiratory insufficiency, Rigidity, Myoclonus, Ventriculomegaly, In... OMIM:618241
L1 Syndrome
Gait disturbance, Hydrocephalus, Spasticity, Aqueductal stenosis, Depression, Hemiplegia/hemiparesis ORPHA:275543
Idiopathic Bronchiectasis
Wheezing, Productive cough, Cachexia, Crackles, Abnormal respiratory system physiology, Bronchiec... ORPHA:60033
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Large fontanelles, Brachycephaly, Craniosynostosis, Abnormality of the septum pellucidum, Spastic... ORPHA:171839
Lennox-Gastaut Syndrome
Aggressive behavior, Myoclonus, Falls, Abnormal brainstem morphology, Hyperactivity, Personality ... ORPHA:2382
Xq28 (MECP2) duplication
Progressive spasticity, Brachycephaly, Failure to thrive, Stereotypy, Inability to walk, Hypoplas... DECIPHER:45
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Plagiocephaly, Cervical platyspondyly, Colpocephaly, Polymicrogyria, Midface retrusion, Scoliosis... OMIM:618731
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
Cln5 Disease
Clumsiness, Poor gross motor coordination, Periventricular white matter hyperintensities, Dysmetr... ORPHA:228360
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly OMIM:602200
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Athetosis, Dystonia, Failure to thrive, Respiratory insufficiency due to muscle weakness, Loss of... OMIM:612073
Joubert Syndrome With Renal Defect
Gait disturbance, Abnormal pattern of respiration, Apnea, Tremor, Oculomotor apraxia, Ataxia, Mol... ORPHA:220497
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Myoclonus, Tremor, Progressive cerebellar ataxia, Increased CSF lactate, Focal T2 hypoi... ORPHA:139485
Craniosynostosis 6
Plagiocephaly, Dandy-Walker malformation, Brachycephaly, Craniosynostosis, Abnormal corpus callos... OMIM:616602
Selective Igm Deficiency
Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy,... ORPHA:331235
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Myoclonus, Cerebral atrophy OMIM:204500
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia, Short stature ORPHA:1144
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor ORPHA:2589
Spinocerebellar Ataxia, Autosomal Recessive 8
Dysmetria, Kyphosis, Ataxia, Spasticity, Limb ataxia, Gait ataxia, Scoliosis OMIM:610743
Pulmonary Blastoma
Dyspnea, Weight loss, Recurrent pneumonia, Cough ORPHA:64741
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Relative macrocephaly, Intrauterine growth retardation, S... ORPHA:813
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Respiratory insufficiency due to muscle weakness, Kyphosis, Inability to walk, Cerebral... OMIM:611890
Duplication Of The Pituitary Gland
Brachyturricephaly, Abnormal midbrain morphology, Abnormality of the odontoid process, Short stat... ORPHA:314621
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Cerebral calcification, Anxiet... OMIM:261600
Tay-Sachs Disease
Clumsiness, Fasciculations, Incoordination, Limited elbow extension, Anxiety, Gait disturbance, H... ORPHA:845
Borjeson-Forssman-Lehmann Syndrome
Thickened calvaria, Short stature, Kyphosis, Cervical spinal canal stenosis, Obesity, Scheuermann... OMIM:301900
Warburg Micro Syndrome 3
Brachycephaly, Kyphoscoliosis, Spastic tetraplegia, Ventriculomegaly, Postnatal growth retardatio... OMIM:614222
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis, Macrocephaly, Hydrocephalus, Spastic tetraplegia OMIM:300886
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Respiratory insufficiency due to muscle weakness, Myoclonus, Fasciculations, Trem... OMIM:159950
Hsd10 Disease, Infantile Type
Dystonia, Paroxysmal bursts of laughter, Poor coordination, Choreoathetosis, Spastic tetraparesis... ORPHA:391428
Corpus Callosum Agenesis-Neuronopathy Syndrome
Craniosynostosis, Turricephaly, Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly, H... ORPHA:1496
Developmental And Epileptic Encephalopathy 40
Myoclonus, Cerebral cortical atrophy, Spasticity, Choreoathetosis OMIM:617065
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Dilation of lateral ventricles, Agenesis of corpus callosum OMIM:300952
Methylcobalamin Deficiency Type Cble
Intrauterine growth retardation, Failure to thrive, Ventriculomegaly, Hypoplasia of the brainstem... ORPHA:2169
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Dilation of lateral ventricles, Small for gestational age OMIM:619278
Classic Galactosemia
Clumsiness, Secondary amenorrhea, Postural tremor, Gait disturbance, Oligomenorrhea, Gait imbalan... ORPHA:79239
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Parkinsonism, Dysmetria, Bradykinesia, Intention tremor, Impaired tandem gait, R... OMIM:300623
Mental Retardation, Autosomal Dominant 36
Plagiocephaly, Ventriculomegaly, Inability to walk, Hydrocephalus, Prominent metopic ridge, Hypop... OMIM:616362
Coffin-Siris Syndrome 6
Plagiocephaly, Short stature, Kyphoscoliosis, Wormian bones, Stereotypy, Frontal bossing, Tics, P... OMIM:617808
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Hypertonia, Myoclonus, Progressive extrapyramidal movement disorder OMIM:612736
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dystonia, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Tremor, Ataxia, Poor fine m... ORPHA:79263
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Stillbirth, Hydrocephalus, Respiratory failure, Aqueductal stenosis OMIM:276950
Spinocerebellar Ataxia 2
Postural tremor, Rigidity, Dilated fourth ventricle, Dysmetria, Myoclonus, Bradykinesia, Fascicul... OMIM:183090
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Kyphosis, Tremor, Ataxia, Scoliosis ORPHA:101075
Joubert Syndrome 2
Central apnea, Brainstem dysplasia, Failure to thrive, Abnormal corpus callosum morphology, Episo... OMIM:608091
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Stereotypy, Hydrocephalus, Thin corpus callosum, Anxiety, Plagiocephaly,... OMIM:619512
Ceroid Lipofuscinosis, Neuronal, 3
Myoclonus, Abnormality of extrapyramidal motor function, Cerebral atrophy, Parkinsonism, Anxiety OMIM:204200
Aicardi Syndrome
Dilated third ventricle, Dandy-Walker malformation, Partial agenesis of the corpus callosum, Butt... OMIM:304050
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:613728
Dystonia 12
Dystonia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Parkinsonism, Anxiety, De... OMIM:128235
Schwartz-Jampel Syndrome
Short stature, Apnea, Irritability, Protrusio acetabuli, Anxiety, Decreased body weight, Abnormal... ORPHA:800
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Short stature, Ataxia, Hydrocephalus, Spasticity, Microcephaly ORPHA:220295
Mosaic Trisomy 1
Small anterior fontanelle, Frontal bossing, Macrocephaly, Polymicrogyria, Camptodactyly of finger... ORPHA:1692
Congenital Toxoplasmosis
Failure to thrive in infancy, Intrauterine growth retardation, Ventriculomegaly, Hydrocephalus, C... ORPHA:858
Pontocerebellar Hypoplasia, Type 1D
Intrauterine growth retardation, Respiratory insufficiency, Failure to thrive, Fasciculations, Sp... OMIM:618065
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Joubert Syndrome 30
Dandy-Walker malformation, Cerebellar atrophy, Tachypnea, Apnea, Ventriculomegaly, Molar tooth si... OMIM:617622
Distal 7Q11.23 Microduplication Syndrome
Anxiety, Attention deficit hyperactivity disorder, Hydrocephalus ORPHA:261102
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Ataxia, Exertional dyspnea, Macrocephaly, Lethargy ORPHA:42
Biemond Syndrome Type 2
Short stature, Hypogonadotropic hypogonadism, Hypogonadism, Hydrocephalus, Obesity, Delayed puberty ORPHA:141333
Hydrolethalus Syndrome 2
Anencephaly, Ventriculomegaly, Molar tooth sign on MRI, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Frequent falls, Myoclonus, Progressive gait ataxia, Upper limb hypertonia, Progres... ORPHA:254343
Ichthyosis Prematurity Syndrome
Neonatal asphyxia, Allergic rhinitis, Erythroderma, Asthma OMIM:608649
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Renpenning Syndrome
Cachexia, Growth delay, Microcephaly, Severe short stature ORPHA:3242
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Failure to thrive, Myoclonus, Ataxia, Hypertonia, Respiratory distress, Spasticity, Cerebral atro... OMIM:618426
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Frontal bossing, Macrocephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Joubert Syndrome
Gait disturbance, Abnormal pattern of respiration, Abnormal form of the vertebral bodies, Apnea, ... ORPHA:475
Joubert Syndrome With Ocular Defect
Gait disturbance, Abnormal pattern of respiration, Abnormal vertebral morphology, Apnea, Tremor, ... ORPHA:220493
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Attention deficit hyperactivity disorder, Aggressive behavior, Microcephaly, Kyphosis OMIM:617061
Brachyolmia Type 1, Hobaek Type
Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, Back pain, Kyphosis, S... OMIM:271530
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Megalencephaly, Thick corpus callosum, Knee flexion contracture, Kyphosis, Frontal bossing, Pachy... OMIM:603387