Gene: Hydin MGI:2389007

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

HYDIN, axonemal central pair apparatus protein

Synonyms:

hy-3, 1700034M11Rik, hy3, hyrh, 4930545D19Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

Human diseases associated with Hydin (2 diseases)
Human diseases predicted to be associated with Hydin (2011 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ciliary Dyskinesia, Primary, 5		Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis...	OMIM:608647
Primary Ciliary Dyskinesia		Asplenia, Respiratory failure, Ventriculomegaly, Bronchiectasis, Productive cough, Polysplenia, H...	ORPHA:244

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

Disease	Matching phenotypes	Source
Ciliary Dyskinesia, Primary, 11	Decreased nasal nitric oxide, Bronchiectasis, Short stature, Immotile cilia, Recurrent sinusitis,...	OMIM:612649
Ciliary Dyskinesia, Primary, 6	Recurrent sinusitis, Abnormal ciliary motility, Sinusitis, Abnormal respiratory motile cilium mor...	OMIM:610852
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation, Parkinsonism, Hemiparesis, Tremor, Scoliosis, Depression, Difficult...	ORPHA:306669
Atypical Teratoid Rhabdoid Tumor	Cerebral palsy, Hydrocephalus, Macrocephaly, Apathy, Ataxia, Hemiplegia/hemiparesis, Irritability	ORPHA:99966
Ciliary Dyskinesia, Primary, 16	Pulmonary insufficiency, Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Abnormal ciliary mo...	OMIM:614017
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Leukoencephalopathy, Progressive, With Ovarian Failure	Spasticity, Lateral ventricle dilatation, Premature ovarian insufficiency, Apraxia, Hand tremor, ...	OMIM:615889
Masa Syndrome	Hyperlordosis, Shuffling gait, Kyphosis, Ventriculomegaly, Short stature, Macrocephaly, Hydroceph...	OMIM:303350
Ciliary Dyskinesia, Primary, 7	Decreased nasal nitric oxide, Bronchiectasis, Chronic rhinitis, Recurrent pneumonia, Abnormal cil...	OMIM:611884
Ciliary Dyskinesia, Primary, 32	Decreased nasal nitric oxide, Bronchiectasis, Absent respiratory ciliary axoneme radial spokes, I...	OMIM:616481
Ciliary Dyskinesia, Primary, 28	Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv...	OMIM:615505
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Abnormal respiratory motile cilium morphology, Ciliary dyskinesia	OMIM:215520
Ciliary Dyskinesia, Primary, 12	Decreased nasal nitric oxide, Bronchiectasis, Short stature, Chronic sinusitis, Abnormal central ...	OMIM:612650
Pontocerebellar Hypoplasia, Type 1A	Respiratory insufficiency, Hypoplasia of the ventral pons, Lateral ventricle dilatation, Limb ata...	OMIM:607596
Ciliary Dyskinesia, Primary, 9	Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni...	OMIM:612444
Ciliary Dyskinesia, Primary, 23	Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Productive cough, R...	OMIM:615451
Alexander Disease Type I	Spasticity, Abnormal pyramidal sign, Palatal tremor, Hydrocephalus, Cachexia, Ataxia, Failure to ...	ORPHA:363717
Ciliary Dyskinesia, Primary, 18	Rhinitis, Decreased nasal nitric oxide, Respiratory insufficiency due to defective ciliary cleara...	OMIM:614874
Martsolf Syndrome 2	Camptodactyly of finger, Decreased body weight, Spastic diplegia, Lateral ventricle dilatation, S...	OMIM:619420
Cach Syndrome	Spasticity, Lateral ventricle dilatation, Secondary amenorrhea, Truncal ataxia, Premature ovarian...	ORPHA:135
Ciliary Dyskinesia, Primary, 13	Bronchiectasis, Immotile cilia, Absent inner dynein arms, Recurrent sinusitis, Absent outer dynei...	OMIM:613193
Ciliary Dyskinesia, Primary, 14	Bronchiectasis, Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein a...	OMIM:613807
Ciliary Dyskinesia, Primary, 42	Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr...	OMIM:618695
Ciliary Dyskinesia With Defective Radial Spokes	Absent respiratory ciliary axoneme radial spokes, Immotile cilia, Abnormal respiratory system phy...	OMIM:242670
Ciliary Dyskinesia, Primary, 34	Decreased nasal nitric oxide, Bronchiectasis, Reduced respiratory ciliary beating frequency, Recu...	OMIM:617091
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Knee flexion contracture, Lateral ventricle dilatation, Primary microcephaly, Craniosynostosis, I...	ORPHA:284417
Ciliary Dyskinesia, Primary, 24	Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Recu...	OMIM:615481
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Macrocephaly, Hydrocephalus, Abnormal vertebral morphology, Ataxia, Microcephaly	OMIM:618709
Ciliary Dyskinesia, Primary, 26	Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv...	OMIM:615500
Ciliary Dyskinesia, Primary, 27	Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv...	OMIM:615504
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus, Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhin...	OMIM:618699
Ciliary Dyskinesia, Primary, 46	Bronchiectasis, Recurrent sinusitis, Reduced forced vital capacity, Recurrent pneumonia, Reduced ...	OMIM:619436
Ciliary Dyskinesia, Primary, 21	Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re...	OMIM:615294
Ciliary Dyskinesia, Primary, 20	Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis...	OMIM:615067
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Ciliary Dyskinesia, Primary, 10	Ciliary dyskinesia, Abnormal respiratory motile cilium morphology, Recurrent sinusitis, Chronic s...	OMIM:612518
Spinocerebellar Ataxia 48	Gait ataxia, Chorea, Parkinsonism, Cachexia, Ataxia, Babinski sign, Dysmetria, Tremor, Depression...	OMIM:618093
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Band Heterotopia	Spasticity, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Macrocephaly, Agenesis...	OMIM:600348
Ciliary Dyskinesia, Primary, 33	Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Chronic rhinitis, Recurrent pneumon...	OMIM:616726
Ciliary Dyskinesia, Primary, 45	Immotile cilia, Absent inner and outer dynein arms, Bronchiectasis, Chronic rhinitis	OMIM:618801
Ciliary Dyskinesia, Primary, 17	Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Cough, Ciliary dyskinesia, Dynein arm defect...	OMIM:614679
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Inappropriate behavior, Spasticity, Aggressive behavior, Lateral ventricle dilatation, Apraxia, M...	OMIM:221770
Ciliary Dyskinesia, Primary, 15	Bronchiectasis, Abnormal axonemal organization of respiratory motile cilia, Chronic sinusitis, Na...	OMIM:613808
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly, Macrocephaly, Gait disturbance, Tremor, Kinetic ...	OMIM:611808
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Delayed closure of the anterior fontanelle, Lateral ventricle dilatation, Dandy-Walker malformati...	OMIM:618736
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Spasticity, Small fontanelle, Lateral ventricle dilatation, Small for g...	ORPHA:3078
Ciliary Dyskinesia, Primary, 3	Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress,...	OMIM:608644
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Spasticity, Ankle clonus, Lateral ventricle dilatation, Resting tremor, ...	ORPHA:363654
Ciliary Dyskinesia, Primary, 29	Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis	OMIM:615872
Beemer Lethal Malformation Syndrome	Thrombocytopenia, Hydrocephalus, Wide nasal bridge	OMIM:209970
Lissencephaly 4	Short stature, Primary microcephaly, Babinski sign, Growth delay, Hypertonia, Agenesis of corpus ...	OMIM:614019
Ciliary Dyskinesia, Primary, 35	Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Nasal polyposis, Chronic sinusiti...	OMIM:617092
Microphthalmia-Brain Atrophy Syndrome	Spasticity, Lateral ventricle dilatation, Inappropriate crying, Microcephaly, Abnormal pons morph...	ORPHA:77299
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Ciliary Dyskinesia, Primary, 25	Bronchiectasis, Productive cough, Immotile cilia, Recurrent sinusitis, Chronic pulmonary obstruct...	OMIM:615482
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Abnormal respiratory motile cilium morphology, Ciliary dyskinesia	OMIM:225050
Ciliary Dyskinesia, Primary, 30	Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficienc...	OMIM:616037
Intellectual Developmental Disorder, Autosomal Dominant 56	Spasticity, Inability to walk, Lateral ventricle dilatation, Clumsiness, Paraparesis, Myoclonus, ...	OMIM:617854
Ciliary Dyskinesia, Primary, 38	Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Immotile cilia, Chronic...	OMIM:618063
Familial Nasal Acilia	Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Abnormal respiratory m...	ORPHA:922
Ige Responsiveness, Atopic	Asthma, Eczema, Allergic rhinitis	OMIM:147050
Ciliary Dyskinesia, Primary, 19	Rhinitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Immotile ...	OMIM:614935
Ciliary Dyskinesia, Primary, 22	Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv...	OMIM:615444
Chudley-Mccullough Syndrome	Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Partial agenesis of...	OMIM:604213
Ciliary Dyskinesia, Primary, 40	Decreased nasal nitric oxide, Reduced respiratory ciliary beating frequency, Azoospermia, Chronic...	OMIM:618300
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Aggressive behavior, Self-injurious behavior, Ventriculomegaly, Short stature, Myoclonus, Macroce...	OMIM:300699
Craniosynostosis 6	Delayed cranial suture closure, Lateral ventricle dilatation, Right unilambdoid synostosis, Dandy...	OMIM:616602
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Pineocytoma	Hydrocephalus, Episodic ataxia, Difficulty walking, Increased CSF protein concentration	ORPHA:251912
Bilateral Generalized Polymicrogyria	Spasticity, Self-injurious behavior, Lateral ventricle dilatation, Spastic tetraplegia, Eyelid my...	ORPHA:208447
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Recurrent aspiration pneumonia, Inability to walk, Lateral ventricle dilatation...	ORPHA:79243
Alexander Disease	Spasticity, Palatal tremor, Apathy, Hydrocephalus, Ataxia, Babinski sign, Dysmetria, Increased CS...	OMIM:203450
Eosinophilopenia	Decreased eosinophil count, Allergic rhinitis	OMIM:131430
Malan Overgrowth Syndrome	Hypoplasia of the brainstem, Ventriculomegaly, Lateral ventricle dilatation, Macrocephaly, Episod...	ORPHA:420179
Christianson Syndrome	Gait ataxia, Ventriculomegaly, Truncal ataxia, Cachexia, Inappropriate laughter, Microcephaly, Co...	ORPHA:85278
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Chorea, Spasticity, Self-injurious behavior, Inability to walk, Ventriculomegaly, Myoclonus, Inap...	OMIM:614254
Juvenile Huntington Disease	Gait ataxia, Chorea, Ventriculomegaly, Weight loss, Rigidity, Myoclonus, Ataxia, Depression, Prog...	ORPHA:248111
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Rhinitis, B lymphocytopenia, Asthma, Recurrent bacterial upper respiratory tract infections, Recu...	ORPHA:70593
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Epilepsy, Progressive Myoclonic, 9	Gait ataxia, Ventriculomegaly, Myoclonus, Scoliosis, Frequent falls, Action myoclonus, Agenesis o...	OMIM:616540
Foxg1 Syndrome	Paroxysmal bursts of laughter, Spasticity, Decreased body weight, Inability to walk, Short statur...	ORPHA:561854
Carboxypeptidase N Deficiency	Allergic rhinitis	OMIM:212070
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Spasticity, Lateral ventricle dilatation, Primary microcephaly, Spastic tetraplegia, Cerebral pal...	OMIM:619847
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Aggressive behavior, Elbow flexion contracture, Hydrocephalus, Spastic tetraparesis, Tremor, Micr...	OMIM:619470
Holoprosencephaly 5	Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ...	OMIM:609637
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Conjunctivitis, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia, Arthritis, Otitis media,...	OMIM:601457
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Rec...	OMIM:620032
Ciliary Dyskinesia, Primary, 2	Bronchiectasis, Immotile cilia, Absent inner and outer dynein arms, Nasal polyposis, Respiratory ...	OMIM:606763
Creutzfeldt-Jakob Disease	Gait ataxia, Increased CSF protein concentration, Hemiparesis, Myoclonus, Apathy, Depression, Anx...	OMIM:123400
Central Neurocytoma	Paresthesia, Hydrocephalus, Abnormal lateral ventricle morphology, Ataxia, Babinski sign, Pain in...	ORPHA:73256
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Gait ataxia, Ventriculomegaly, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, E...	OMIM:615362
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Abnormal brainstem morphology, Hemiparesis, Hypoplasia of the pons,...	ORPHA:300573
Ciliary Dyskinesia, Primary, 1	Asplenia, Bronchiectasis, Immotile cilia, Recurrent bronchitis, Communicating hydrocephalus, Chro...	OMIM:244400
Pontocerebellar Hypoplasia, Type 13	Gait ataxia, Inability to walk, Lateral ventricle dilatation, Asthma, Pleural effusion, Failure t...	OMIM:618606
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Abnormal cerebellar vermis morphology, Hydrocephalus, Cerebellar hypoplasia	ORPHA:2703
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Kyphosis, Lateral ...	OMIM:618291
Severe Primary Trimethylaminuria	Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity	ORPHA:468726
Joubert Syndrome 3	Neonatal breathing dysregulation, Molar tooth sign on MRI, Lateral ventricle dilatation, Episodic...	OMIM:608629
Immunodeficiency 102	Leukopenia, Anemia, Reduced natural killer cell count, Decreased proportion of CD4-positive helpe...	OMIM:301082
Ciliary Dyskinesia, Primary, 5	Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis...	OMIM:608647
Pontocerebellar Hypoplasia, Type 12	Hypoplasia of the brainstem, Lateral ventricle dilatation, Primary microcephaly	OMIM:618266
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Respiratory insufficiency, Spastic tetraparesis, Microcephaly, Lateral ventricle dilatation	OMIM:617668
Spermatogenic Failure 38	Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c...	OMIM:618433
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Rhizomelia, Hydrocephalus, Hypertension, Agenesis of corpus callosum	OMIM:166990
Unilateral Hemispheric Polymicrogyria	Hemiparesis, Lateral ventricle dilatation	ORPHA:101071
Ciliary Dyskinesia, Primary, 37	Bronchiectasis, Chronic rhinitis, Rhinorrhea, Wheezing, Goiter	OMIM:617577
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Fried Syndrome	Aggressive behavior, Spastic diplegia, Hydrocephalus, Gait disturbance, Scoliosis	ORPHA:85335
Riboflavin Transporter Deficiency	Respiratory insufficiency, Aggressive behavior, Hypogonadism, Myoclonus, Cachexia, Ataxia, Tremor...	ORPHA:97229
Juvenile Temporal Arteritis	Conjunctivitis, Eosinophilia, Leukocytosis, Allergic rhinitis	ORPHA:26137
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spasticity, Hypoplasia of the brainstem, Spastic ataxia, Normal pressure hydrocephalus, Inability...	ORPHA:300570
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Short stature, Ataxia, Failure to thrive, Progressive microcephaly, Anxiety, Tongue fas...	OMIM:620007
Developmental And Epileptic Encephalopathy 36	Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Hydrocephalus, Macrocephal...	OMIM:300884
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Inability to walk, Lateral ventricle dilatation, Growth delay, Microcephaly, Involuntary movements	OMIM:615716
Spastic Paraplegia 18, Autosomal Recessive	Kyphosis, Upper limb spasticity, Gait disturbance, Babinski sign, Spastic paraplegia, Scoliosis, ...	OMIM:611225
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Spasticity, Microcephaly, Lateral ventricle dilatation, Hypertonia	OMIM:618890
Intellectual Developmental Disorder, X-Linked 12	Hip subluxation, Spasticity, Increased body mass index, Ventriculomegaly, Short stature, Small fo...	OMIM:300957
Felty Syndrome	Splenomegaly, Rhinitis, Anemia, Arthritis, Synovitis, Recurrent pharyngitis, Pericarditis, Recurr...	ORPHA:47612
Retinitis Pigmentosa 6	Immotile cilia	OMIM:312612
Epilepsy, Pyridoxine-Dependent	Neonatal respiratory distress, Hydrocephalus	OMIM:266100
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Gait ataxia, Somatic sensory dysfunction, Abnormal pyramidal sign, Fasciculations, Truncal ataxia...	ORPHA:95434
Pettigrew Syndrome	Gait ataxia, Spasticity, Self-injurious behavior, Ventriculomegaly, Choreoathetosis, Hydrocephalu...	OMIM:304340
Slc35A2-Cdg	Hip subluxation, Camptodactyly of finger, Lateral ventricle dilatation, Inability to walk, Short ...	ORPHA:356961
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Poor fine motor coordination, Somatic sensory dysfunction, Paresthesia, Postural tremor, Hydrocep...	ORPHA:99947
Fanconi Anemia, Complementation Group R	Hydrocephalus, Microcephaly	OMIM:617244
Neurodevelopmental Disorder With Involuntary Movements	Chorea, Spasticity, Self-injurious behavior, Ventriculomegaly, Microcephaly, Involuntary movement...	OMIM:617493
Dermatitis, Atopic	Conjunctivitis, Allergic rhinitis, Asthma, Eczema, Recurrent skin infections, Atopic dermatitis	OMIM:603165
Combined Oxidative Phosphorylation Defect Type 39	Ankle clonus, Tip-toe gait, Lateral ventricle dilatation, Limb hypertonia, Involuntary movements,...	ORPHA:565624
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Mitochondrial Complex I Deficiency, Nuclear Type 19	Respiratory insufficiency, Ventriculomegaly, Inability to walk, Rigidity, Myoclonus, Irritability...	OMIM:618241
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Autosomal Recessive Spastic Paraplegia Type 53	Ventriculomegaly, Kyphosis, Failure to thrive, Upper limb hypertonia, Impaired proprioception, Mi...	ORPHA:319199
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Ventriculomegaly, Inability to walk, Lateral ventricle dilatation	OMIM:613443
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Tracheobronchomalacia, Hypoplasia of the brainstem, Lateral ventricle d...	OMIM:617751
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Inappropriate behavior, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction...	ORPHA:401901
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Inability to walk, Kyphosis, Short stature, Hip dislocation, Ataxia, Waddling gait, Scoliosis, Mi...	OMIM:616756
Global Developmental Delay With Or Without Impaired Intellectual Development	Poor fine motor coordination, Short stature, Lateral ventricle dilatation	OMIM:618330
Pelizaeus-Merzbacher Disease	Respiratory insufficiency, Spasticity, Kyphosis, Short stature, Choreoathetosis, Gait disturbance...	ORPHA:702
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Gait ataxia, Weight loss, Cachexia, Respiratory distress, Failure to thrive, Increased CSF lactate	OMIM:612075
Giant Axonal Neuropathy 1, Autosomal Recessive	Abnormal pyramidal sign, Lateral ventricle dilatation, Macrocephaly, Spastic paraplegia, Scoliosi...	OMIM:256850
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Gait disturbance, Failure to thrive, Microcephaly, Lethargy	ORPHA:26
Distal Monosomy 10Q	Poor fine motor coordination, Spasticity, Aggressive behavior, Lateral ventricle dilatation, Shor...	ORPHA:96148
Gómez-López-Hernández Syndrome	Abnormal cerebellum morphology, Short stature, Abnormal brainstem morphology, Hydrocephalus, Cere...	ORPHA:1532
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Ventriculomegaly, Short stature, Cachexia, Ataxia, Microcephaly	ORPHA:1933
Arnold-Chiari Malformation Type Ii	Meningocele, Somatic sensory dysfunction, Ventriculomegaly, Brain stem compression, Difficulty wa...	ORPHA:1136
Alg13-Cdg	Clumsiness, Abnormal lateral ventricle morphology, Decreased body weight	ORPHA:324422
Glutaric Acidemia I	Spastic diplegia, Lateral ventricle dilatation, Rigidity, Macrocephaly, Choreoathetosis, Hydrocep...	OMIM:231670
Baker-Gordon Syndrome	Self-injurious behavior, Inability to walk, Hyperkinetic movements, Choreoathetosis, Ataxia, Scol...	OMIM:618218
Diencephalic Syndrome	Cachexia, Hydrocephalus, Decreased body weight	ORPHA:1672
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Genu valgum, Aggressive behavior, Gait imbalance, Ventriculomegaly, Lateral ventricle dilatation,...	ORPHA:488627
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation, Aspiration, Cerebral palsy, Poor gross motor coordination, Secondar...	ORPHA:2148
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation, Progressive spasticity	OMIM:619972
Sandhoff Disease, Adult Form	Gait ataxia, Spasticity, Tremor, Anxiety, Fasciculations	ORPHA:309169
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Neutropenia, Periodontitis, Acut...	ORPHA:486
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Difficulty walking, Scoliosis, Distal sensory impairment, Respiratory insufficiency due...	OMIM:617087
Congenital Muscular Dystrophy Due To Lmna Mutation	Respiratory insufficiency, Hyperlordosis, Spinal rigidity, Cachexia, Gait disturbance	ORPHA:157973
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Sacral dimple, Ankle clonus, Lateral ventricle dilatation, Short stature, Scoliosis, Frequent fal...	OMIM:619995
Atypical Rett Syndrome	Inability to walk, Abnormal pattern of respiration, Hand apraxia, Gait ataxia, Spasticity, Episod...	ORPHA:3095
Leishmaniasis	Leukopenia, Anemia, Rhinitis, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Thro...	ORPHA:507
Myoclonus-Dystonia Syndrome	Limb myoclonus, Torticollis, Myoclonus, Spinal myoclonus, Panic attack, Depression, Anxiety, Pers...	ORPHA:36899
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Spasticity, Partial agenesis of the corpus callosum, Microcephaly, Lateral ventricle dilatation	OMIM:619517
Autosomal Recessive Spastic Paraplegia Type 11	Abnormal substantia nigra morphology, Inability to walk, Lateral ventricle dilatation, Parkinsoni...	ORPHA:2822
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation, Respiratory insufficiency due to muscle weakness	OMIM:616816
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Genu varum, Back pain, Genu valgum, Delayed vertebral ossification, Small for gestational age, Ma...	OMIM:613330
Clcn4-Related X-Linked Intellectual Disability Syndrome	Chorea, Aggressive behavior, Self-injurious behavior, Ventriculomegaly, Bipolar affective disorde...	ORPHA:485350
Mulibrey Nanism	Cachexia, Macrocephaly, Intrauterine growth retardation, Short stature	ORPHA:2576
Primary Ciliary Dyskinesia	Asplenia, Respiratory failure, Ventriculomegaly, Bronchiectasis, Productive cough, Polysplenia, H...	ORPHA:244
Dystonia 11, Myoclonic	Anxiety, Torticollis, Myoclonus, Tremor, Depression, Panic attack, Agoraphobia	OMIM:159900
1Q21.1 Microduplication Syndrome	Macrocephaly, Hip dislocation, Hydrocephalus, Failure to thrive, Hypertonia	ORPHA:250994
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Camptodactyly of finger, Abnormal pyramidal sign, Abnormality of the cervical spine, Ventriculome...	ORPHA:48431
Hao-Fountain Syndrome	Delayed cranial suture closure, Aggressive behavior, Apraxia, Central sleep apnea, Large fontanel...	OMIM:616863
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Spasticity, Hip contracture, Inability to walk, Cachexia, Short neck, Scoliosis, Hypertonia, Micr...	OMIM:616801
Huntington Disease-Like 2	Chorea, Inertia, Weight loss, Rigidity, Apathy, Action tremor, Depression, Anxiety, Irritability,...	OMIM:606438
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Aggressive behavior, Hypoplasia of the brainstem, Ventriculomegaly, Lat...	ORPHA:572798
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Juvenile Amyotrophic Lateral Sclerosis	Chorea, Retrocollis, Tip-toe gait, Opisthotonus, Inability to walk, Spastic diplegia, Parkinsonis...	ORPHA:300605
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Knee flexion contracture, Hip contracture, Self-injurious behavior, Spastic tetraplegia, Short st...	ORPHA:371364
Macrocephaly, Acquired, With Impaired Intellectual Development	Aggressive behavior, Ventriculomegaly, Macrocephaly, Anxiety, Agenesis of corpus callosum	OMIM:618286
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Genu valgum, Molar tooth sign on MRI, Short stature, Macrocephaly, Abnormal vertebral morphology,...	ORPHA:166024
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Gait ataxia, Chorea, Spasticity, Aggressive behavior, Abnormal pyramidal sign, Ventriculomegaly, ...	ORPHA:500180
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Gait ataxia, Gait imbalance, Abnormal lateral ventricle morphology, Growth delay, Intrauterine gr...	ORPHA:488635
Hsd10 Disease	Ventriculomegaly, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Ataxia, Spastic parapar...	ORPHA:391417
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Aggressive behavior, Wide anterior fontanel, Lateral ventricle dilatation, Macrocephaly, Ataxia, ...	ORPHA:457279
Spinocerebellar Ataxia, Autosomal Recessive 4	Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ...	OMIM:607317
X-Linked Intellectual Disability, Cabezas Type	Camptodactyly of finger, Aggressive behavior, Kyphosis, Hypogonadism, Short stature, Biparietal n...	ORPHA:85293
Huntington Disease	Poor fine motor coordination, Suicidal ideation, Inability to walk, Babinski sign, Difficulty wal...	ORPHA:399
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Abnormal aggressive,...	ORPHA:3077
Alg2-Cdg	Microcephaly, Lateral ventricle dilatation	ORPHA:79326
Moynahan Syndrome	Short stature, Cachexia, Microcephaly, Hypogonadism	ORPHA:2574
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Hypoplasia of the brainstem, Myoclonus, Failure to thrive, Tremor, Anxiety	OMIM:619651
Congenital Disorder Of Glycosylation, Type In	Respiratory insufficiency, Spasticity, Short stature, Myoclonus, Ataxia, Failure to thrive, Short...	OMIM:612015
Paroxysmal Non-Kinesigenic Dyskinesia	Chorea, Rigidity, Torticollis, Choreoathetosis, Paroxysmal dyskinesia, Dyspnea, Involuntary movem...	ORPHA:98810
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Respiratory insufficiency, Hyperlordosis, Tip-toe gait, Kyphosis, Short stature, Spinal rigidity,...	OMIM:617404
Adams-Oliver Syndrome 2	Lateral ventricle dilatation, Limb hypertonia, Hydrocephalus, Macrocephaly, Microcephaly	OMIM:614219
Hurler-Scheie Syndrome	Rhinitis, Splenomegaly	ORPHA:93476
Glut1 Deficiency Syndrome 1	Spasticity, Hypoglycorrhachia, Hemiparesis, Myoclonus, Choreoathetosis, Paralysis, Ataxia, Babins...	OMIM:606777
Rett Syndrome	Gait ataxia, Gait apraxia, Spasticity, Kyphosis, Short stature, Truncal ataxia, Intermittent hype...	OMIM:312750
Infantile Krabbe Disease	Spasticity, Decreased head circumference, Ankle clonus, Increased head circumference, Spastic dip...	ORPHA:206436
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Truncal ataxia, Myoclonus, Irritability, Abnormal vertebral morphology, Ataxia, Failure to thrive...	OMIM:250620
Developmental And Epileptic Encephalopathy 49	Spasticity, Ventriculomegaly, Myoclonus, Hydrocephalus, Microcephaly, Dandy-Walker malformation	OMIM:617281
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear/anxiety-related behavior, Aggressive behavior, Spasticity, Suicidal ideation, Pseud...	ORPHA:208441
Autosomal Recessive Spastic Paraplegia Type 66	Progressive spastic paraplegia, Impaired vibration sensation in the lower limbs, Limb hypertonia,...	ORPHA:401815
Aicardi-Goutieres Syndrome 9	Spasticity, Lateral ventricle dilatation, Spastic diplegia, Spastic tetraplegia, Weight loss, Int...	OMIM:619487
Gm1-Gangliosidosis, Type Iii	Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Ventriculomegaly, Kyphosis, Short s...	OMIM:230650
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Osteopetrosis, Autosomal Recessive 2	Anemia, Osteomyelitis, Hydrocephalus, Pancytopenia, Hepatosplenomegaly, Mandibular osteomyelitis,...	OMIM:259710
Epilepsy, Early-Onset, Vitamin B6-Dependent	Respiratory insufficiency, Ventriculomegaly, Myoclonus, Apnea, Secondary microcephaly, Hypertonia...	OMIM:617290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Respiratory insufficiency, Hypoplasia of the brainstem, Cerebellar dysplasia, Ventriculomegaly, C...	OMIM:613153
Kohlschutter-Tonz Syndrome-Like	Spasticity, Decreased body weight, Ventriculomegaly, Inability to walk, Lateral ventricle dilatat...	OMIM:619229
Pontocerebellar Hypoplasia, Type 15	Hypoplasia of the brainstem, Spastic tetraplegia, Hydrocephalus, Partial agenesis of the corpus c...	OMIM:619302
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Knee flexion contracture, Hyperlordosis, Fasciculations, Tip-toe gait, Hip contracture, Kyphosis,...	OMIM:615290
Polymyoclonus, Infantile	Myoclonus, Irritability, Ataxia	OMIM:263550
Spinocerebellar Ataxia 38	Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor, Atrophy/Degeneration affecting the brainstem	OMIM:615957
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Weight loss, Cachexia, Ataxia	OMIM:613662
Developmental And Epileptic Encephalopathy 69	Spastic tetraplegia, Inability to walk, Myoclonus, Macrocephaly, Hyperkinetic movements	OMIM:618285
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Aggressive behavior, Self-injurious behavior, Cerebral palsy, Lateral ventricle dilatation, Hyper...	OMIM:618914
Immunodeficiency By Defective Expression Of Mhc Class Ii	Rhinitis, T lymphocytopenia, Skin rash, Sclerosing cholangitis, Neutropenia in presence of anti-n...	ORPHA:572
Spastic Paraplegia 46, Autosomal Recessive	Impaired vibration sensation in the lower limbs, Ankle clonus, Spastic gait, Kyphosis, Infertilit...	OMIM:614409
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait	OMIM:616921
Migraine, Familial Hemiplegic, 1	Hemiparesis, Hemiplegia, Ataxia, Tremor, Anxiety	OMIM:141500
D-2-Hydroxyglutaric Aciduria 1	Lateral ventricle dilatation, Macrocephaly, Apnea, Subependymal cysts, Inspiratory stridor	OMIM:600721
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Kyphoscoliosis, Anxiety	OMIM:620075
Cog5-Cdg	Camptodactyly of finger, Genu valgum, Lateral ventricle dilatation, Short stature, Truncal ataxia...	ORPHA:263487
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Small for gestational age, Myoclonus, Choreoathetosis, Episodic ataxia, Tremor,...	OMIM:312170
Scheuermann Disease	Osteochondrosis, Morbus Scheuermann, Kyphosis	OMIM:181440
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Respiratory insufficiency, Congenital laryngeal stridor, Aggressive behavior, Dysdiadochokinesis,...	OMIM:618356
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Ventriculomegaly, Abnormal brainstem morphology, Abnormal cerebellum morphology, Abnormal CSF pyr...	ORPHA:255182
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Aggressive behavior, Self-injurious behavior, Ventriculomegaly, Cerebral palsy, Short stature, Hy...	OMIM:619833
Classic Glucose Transporter Type 1 Deficiency Syndrome	Chorea, Spasticity, Hypoglycorrhachia, Extrapyramidal dyskinesia, Hemiparesis, Apraxia, Myoclonus...	ORPHA:71277
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus, Periodontitis	ORPHA:1008
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Hyperkinetic movements, Inappropriate crying, Progressive microcephaly, Self-injurious behavior	ORPHA:397933
Dopa-Responsive Dystonia	Ventriculomegaly, Anxiety, Inability to walk, Parkinsonism, Poor coordination, Rigidity, Abnormal...	ORPHA:255
Alexander Disease	Respiratory insufficiency, Short neck, Spasticity, Hydrocephalus, Depression, Clonus, Chorea, Abn...	ORPHA:58
Postencephalitic Parkinsonism	Abnormal CSF protein concentration, Tremor by anatomical site, Abnormal pyramidal sign, Abnormal ...	ORPHA:97349
Congenital Disorder Of Glycosylation, Type Iig	Rhizomelia, Lateral ventricle dilatation, Short stature, Vertebral segmentation defect, Butterfly...	OMIM:611209
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dilated third ventricle, Tip-toe gait, Spastic gait, Lateral ventricle dilatation, Limb hypertoni...	OMIM:617296
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Dilated third ventricle, Aggressive behavior, Kyphosis, Lateral ventricle dilatation, Microcephal...	OMIM:619244
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Meningocele, Dilated third ventricle, Ventriculomegaly, Recurrent aspiration pneumonia, Lateral v...	ORPHA:397715
Whipple Disease	Respiratory insufficiency, Abnormal pyramidal sign, Arthritis, Myoclonus, Hydrocephalus, Cachexia...	ORPHA:3452
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Par...	OMIM:605407
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Aggressive behavior, Pneumothorax, Hyperkinetic movements, Parkinsonism, Ataxia, Tremor, ...	OMIM:619738
X-Linked Creatine Transporter Deficiency	Chorea, Short stature, Cachexia, Ataxia, Microcephaly, Hypertonia, Athetosis, Self-mutilation	ORPHA:52503
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Ciliary dyskinesia	ORPHA:1882
Epilepsy, Progressive Myoclonic, 8	Falls, Truncal ataxia, Myoclonus, Choreoathetosis, Gait disturbance, Limb ataxia, Atrophy/Degener...	OMIM:616230
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Dandy-Walker malformation	OMIM:617967
Huntington Disease-Like 1	Gait ataxia, Poor fine motor coordination, Chorea, Ventriculomegaly, Weight loss, Clumsiness, Gai...	ORPHA:157941
Ravine Syndrome	Apnea, Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology	ORPHA:99852
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Dilated third ventricle, Aggressive behavior, Spasticity, Self-injurious behavior,...	ORPHA:544488
Bainbridge-Ropers Syndrome	Self-injurious behavior, Lateral ventricle dilatation, Inability to walk, Metopic synostosis, Fai...	OMIM:615485
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Babinski sign, Central apnea, Bradykinesia, Gait ataxia, Aggressive behavior, Dysmetria, Limb fas...	OMIM:615157
Coach Syndrome 2	Molar tooth sign on MRI, Hydrocephalus, Apneic episodes in infancy, Hypertension, Agenesis of cor...	OMIM:619111
Adult Krabbe Disease	Hoffmann sign, Progressive spastic paraparesis, Spasticity, Somatic sensory dysfunction, Clumsine...	ORPHA:206448
Flynn-Aird Syndrome	Kyphosis, Cachexia, Ataxia, Impaired pain sensation, Scoliosis	ORPHA:2047
Spinal Muscular Atrophy, Jokela Type	Tremor, Distal sensory impairment, Difficulty walking, Fasciculations	OMIM:615048
Glycine Encephalopathy	Aggressive behavior, Myoclonus, Irritability, Lethargy, Agenesis of corpus callosum	OMIM:605899
Succinic Semialdehyde Dehydrogenase Deficiency	Aggressive behavior, Self-injurious behavior, Elevated CSF 4-hydroxybutyric acid concentration, A...	OMIM:271980
Yellow Nail Syndrome	Pulmonary arterial hypertension, Rhinitis, Bronchiectasis, Dyspnea, Sinusitis, Cough	ORPHA:662
Mcdonough Syndrome	Short stature, Cachexia, Scoliosis, Kyphosis	ORPHA:2471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Cerebell...	OMIM:613155
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements	OMIM:618425
Progressive Myoclonic Epilepsy Type 1	Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Intention tremor	ORPHA:308
Glutamine Deficiency, Congenital	Lateral ventricle dilatation, Apnea, Subependymal cysts, Neonatal respiratory distress, Decreased...	OMIM:610015
Spinocerebellar Ataxia 17	Gait ataxia, Chorea, Aggressive behavior, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia...	OMIM:607136
Hydrocephalus, Congenital, X-Linked	Spasticity, Aqueductal stenosis, Hydrocephalus, Macrocephaly, Spastic paraplegia, Agenesis of cor...	OMIM:307000
Developmental And Epileptic Encephalopathy 37	Chorea, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Cogwheel rigidity, Hy...	OMIM:616981
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Epilepsy, Progressive Myoclonic, 12	Myoclonus, Ataxia, Dysmetria, Difficulty walking, Depression, Anxiety	OMIM:619191
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Chorea, Dilated third ventricle, Anxiety, Resting tremor, Parkinsonism, Myoclonus, Ataxia, Microc...	OMIM:619725
Pseudo-Torch Syndrome 2	Respiratory insufficiency, Ventriculomegaly, Lateral ventricle dilatation, Pleural effusion, Micr...	OMIM:617397
Mitochondrial Complex I Deficiency, Nuclear Type 31	Failure to thrive, Dysmetria, Ventriculomegaly, Myoclonus	OMIM:618251
Ceroid Lipofuscinosis, Neuronal, 1	Spasticity, Myoclonus, Ataxia, Secondary microcephaly, Progressive microcephaly, Depression, Irri...	OMIM:256730
Paroxysmal Hemicrania	Rhinorrhea, Focal sensory seizure with olfactory features, Rhinitis	ORPHA:157835
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Progressive spastic paraplegia, Spasticity, Fasciculations, Absent pubertal growth spurt, Kyphosi...	ORPHA:464282
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Raynaud-Claes Syndrome	Aggressive behavior, Bipolar affective disorder, Scoliosis, Microcephaly, Anxiety, Depression, Lo...	OMIM:300114
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Spastic diplegia, Short stature, Myoclonus, Ataxia, Babinski sign, Increased CSF alanine concentr...	OMIM:619065
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Dilated third ventricle, Aggressive behavior, Spasticity, Kyphos...	ORPHA:464738
Huntington Disease-Like 1	Chorea, Aggressive behavior, Rigidity, Incoordination, Dysmetria, Depression, Anxiety, Unsteady gait	OMIM:603218
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Abnormal pyramidal sign, Clumsiness, Central sleep apnea, Abnormality of extrapyramid...	ORPHA:79262
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, Depression	OMIM:162350
Spinocerebellar Ataxia Type 1	Chorea, Gait imbalance, Inertia, Dysdiadochokinesis, Postural tremor, Abnormal brainstem morpholo...	ORPHA:98755
Pontocerebellar Hypoplasia Type 4	Hypoplasia of the brainstem, Primary microcephaly, Myoclonus, Hypertonia, Central apnea, Respirat...	ORPHA:166063
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Erythroderma, Eczema, Allergic rhinitis	ORPHA:330064
Myoclonus, Familial, 1	Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus	OMIM:614937
Phosphoserine Aminotransferase Deficiency	Myoclonus, Decreased CSF glycine concentration, Apnea, Secondary microcephaly, Hypertonia, Decrea...	OMIM:610992
Achondroplasia	Wide anterior fontanel, Kyphosis, Rhizomelia, Central sleep apnea, Macrocephaly, Spinal canal ste...	ORPHA:15
Developmental And Epileptic Encephalopathy 40	Spasticity, Small for gestational age, Myoclonus, Choreoathetosis, Spastic tetraparesis, Lethargy...	OMIM:617065
Spinocerebellar Ataxia 20	Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor	OMIM:608687
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Myoclonus, Failure to thrive, Progressive microcephaly, Hypertonia, Unsteady gait, Decreased CSF ...	OMIM:610090
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Spinocerebellar Ataxia 12	Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Action tremor, Depression, Anxiety, Pro...	OMIM:604326
Developmental And Epileptic Encephalopathy 92	Spasticity, Inability to walk, Myoclonus, Ataxia, Secondary microcephaly, Difficulty walking, Let...	OMIM:617829
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturban...	ORPHA:363710
Aicardi-Goutieres Syndrome 4	Respiratory insufficiency, Convex nasal ridge, Ventriculomegaly, Hydrocephalus, Pancytopenia, Hep...	OMIM:610333
Inherited Creutzfeldt-Jakob Disease	Gait ataxia, Chorea, Bradykinesia, Abnormal pyramidal sign, Increased CSF protein concentration, ...	ORPHA:282166
Autosomal Recessive Cutis Laxa Type 2A	Delayed cranial suture closure, Dilated fourth ventricle, Spasticity, Wide anterior fontanel, Ina...	ORPHA:357058
X-Linked Intellectual Disability, Wilson Type	Growth delay, Microcephaly, Lateral ventricle dilatation	ORPHA:85290
Choreoacanthocytosis	Hair-pulling, Blepharospasm, Lateral ventricle dilatation, Self-mutilation of tongue and lips due...	ORPHA:2388
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Short stature, Premature ovarian insufficiency, Distal sensory impairment, Ataxia, Impa...	OMIM:618124
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hemiparesis, Hydrocephalus, Hypoplasia of the pons, Midline brainstem cleft, Scoliosis, Unsteady ...	OMIM:617542
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Asthma, Skin rash, Anemia of inadequate production, Splenomegaly	OMIM:612714
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Hypoplasia of the brainstem, Occipital encephalocele, Hydrocephalus, Cerebellar hypoplasia	ORPHA:352682
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Gait ataxia, Impaired distal vibration sensation, Abnormal pyramidal sign, Clumsiness, Incoordina...	OMIM:616688
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Sacral dimple, Short stature, Macrocephaly, Hydrocephalus, Short neck, Craniosynostosis	ORPHA:1516
Salt And Pepper Developmental Regression Syndrome	Myoclonus, Choreoathetosis, Failure to thrive, Microcephaly, Irritability	OMIM:609056
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Hyperphenylalaninemia, Bh4-Deficient, C	Myoclonus, Choreoathetosis, Tremor, Microcephaly, Hypertonia, Irritability	OMIM:261630
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Gait ataxia, Aggressive behavior, Ventriculomegaly, Kyphosis, Hypogonadism, Short stature, Relati...	OMIM:300354
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Spasticity, Inability to walk, Loss of ability to walk in early childhood, Irritability, Failure ...	OMIM:612073
Intellectual Developmental Disorder, Autosomal Dominant 36	Gait ataxia, Ventriculomegaly, Inability to walk, Hydrocephalus, Scoliosis, Microcephaly, Promine...	OMIM:616362
Neurodevelopmental Disorder With Dystonia And Seizures	Chorea, Self-injurious behavior, Spastic tetraplegia, Ventriculomegaly, Anxiety, Athetosis, Intra...	OMIM:619922
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Spasticity, Partial agenesis of the corpus callosum, Microcephaly	OMIM:304100
Williams-Beuren Region Duplication Syndrome	Ventriculomegaly, Short stature, Small for gestational age, Hydrocephalus, Macrocephaly, Gait dis...	OMIM:609757
Sandhoff Disease	Ataxia, Macrocephaly, Failure to thrive, Kyphosis	ORPHA:796
Congenital Hydrocephalus	Hydrocephalus, Macrocephaly, Ventriculomegaly, Colpocephaly	ORPHA:2185
4Q21 Microdeletion Syndrome	Self-injurious behavior, Kyphosis, Ventriculomegaly, Short neck, Tremor, Scoliosis, Growth delay,...	ORPHA:238750
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Hyperphenylalaninemia, Bh4-Deficient, B	Limb hypertonia, Rigidity, Choreoathetosis, Irritability, Increased CSF phenylalanine concentrati...	OMIM:233910
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Small for gestational age, Microcephaly, Lateral ventricle dilatation	OMIM:619278
Parastremmatic Dwarfism	Genu valgum, Kyphosis, Severe short stature, Short neck, Scoliosis	OMIM:168400
Striatonigral Degeneration, Infantile, Mitochondrial	Chorea, Mild microcephaly, Myoclonus, Poor motor coordination, Incoordination, Babinski sign, Dif...	OMIM:500003
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation, Parkinsonism, Apraxia, Hypersexuality, Apathy	OMIM:607485
Multiple System Atrophy, Cerebellar Type	Gait ataxia, Female anorgasmia, Abnormal pyramidal sign, Postural tremor, Resting tremor, Parkins...	ORPHA:227510
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Abnormal brainstem morphology, Episodic tachypnea, Apneic episodes in infancy, ...	ORPHA:163961
Tenorio Syndrome	Delayed cranial suture closure, Ventriculomegaly, Cerebral palsy, Clumsiness, Macrocephaly, Gait ...	OMIM:616260
Idiopathic Bronchiectasis	Bronchiectasis, Productive cough, Cachexia, Abnormal respiratory system physiology, Emphysema, Cr...	ORPHA:60033
Ataxia-Telangiectasia-Like Disorder	Gait ataxia, Dilated fourth ventricle, Chorea, Dysdiadochokinesis, Short stature, Oculomotor apra...	ORPHA:251347
Combined Saposin Deficiency	Hyperkinetic movements, Myoclonus, Fasciculations, Babinski sign	OMIM:611721
Chorea, Benign Hereditary	Chorea, Gait disturbance, Frequent falls, Anxiety	OMIM:118700
Narp Syndrome	Ventriculomegaly, Short stature, Progressive gait ataxia, Myoclonic spasms, Ataxia, Babinski sign...	ORPHA:644
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, Recurrent aspiration pneumonia, Inability to walk, Eyelid myoclonus, Clumsiness, ...	ORPHA:2590
Dystonia 12	Parkinsonism, Torticollis, Emotional lability, Tremor, Depression, Anxiety, Unsteady gait, Bradyk...	OMIM:128235
Spinocerebellar Ataxia, Autosomal Recessive 8	Gait ataxia, Spasticity, Kyphosis, Limb ataxia, Ataxia, Dysmetria, Scoliosis	OMIM:610743
Hydrocephalus-Obesity-Hypogonadism Syndrome	Short stature, Hydrocephalus, Azoospermia, Short neck, Hypergonadotropic hypogonadism, Cubitus va...	ORPHA:2183
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Progressive gait ataxia, Myoclonus, Emotional lability, Babinski sign, Spastic paraparesis, Upper...	ORPHA:254343
Cdkl5-Deficiency Disorder	Kyphosis, Gait disturbance, Abnormal respiratory system physiology, Impaired pain sensation, Inap...	ORPHA:505652
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive gait ataxia, Progressive cerebellar ataxia, Intention tremor, Myoclonus	ORPHA:2589
Multiple System Atrophy, Parkinsonian Type	Gait ataxia, Female anorgasmia, Abnormal pyramidal sign, Postural tremor, Resting tremor, Parkins...	ORPHA:98933
Multicentric Reticulohistiocytosis	Arthritis, Cachexia	ORPHA:139436
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Wrist flexion contracture, Choreoathetosis, Spastic paraplegia, Babinski sign, Short neck, Bradyk...	OMIM:300055
Pontocerebellar Hypoplasia, Type 2E	Spasticity, Ventriculomegaly, Spastic tetraplegia, Short stature, Myoclonus, Failure to thrive, S...	OMIM:615851
Pulmonary Blastoma	Recurrent pneumonia, Dyspnea, Weight loss, Cough	ORPHA:64741
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Upper limb spasticity, Gait disturbance, Tremor, Microcephaly, Depression, Anxiety...	ORPHA:457240
L1 Syndrome	Spasticity, Aqueductal stenosis, Hydrocephalus, Gait disturbance, Hemiplegia/hemiparesis, Depression	ORPHA:275543
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Exertional dyspnea, Cachexia, Macrocephaly, Ataxia, Lethargy	ORPHA:42
Autosomal Recessive Dopa-Responsive Dystonia	Gait ataxia, Postural tremor, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor functio...	ORPHA:101150
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia, Short stature	ORPHA:1144
Spinocerebellar Ataxia 2	Dilated fourth ventricle, Spasticity, Fasciculations, Dysdiadochokinesis, Postural tremor, Parkin...	OMIM:183090
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Dilated third ventricle, Head-banging, Self-injurious behavior, Lateral ventricle dilatation, Sho...	OMIM:619575
Valinemia	Hyperkinetic movements, Failure to thrive	OMIM:277100
Perry Syndrome	Respiratory insufficiency, Inappropriate behavior, Hypoventilation, Akinesia, Suicidal ideation, ...	OMIM:168605
Intellectual Developmental Disorder, X-Linked 30	Aggressive behavior, Short stature, Clumsiness, Hydrocephalus, Microcephaly, Anxiety	OMIM:300558
Chromosome 3Q29 Deletion Syndrome	Gait ataxia, Aggressive behavior, Small for gestational age, Failure to thrive, Microcephaly, Anx...	OMIM:609425
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Spasticity, Ventriculomegaly, Kyphosis, Spastic tetraplegia, Rigidity, Macrocephaly, Hydrocephalu...	OMIM:618476
Spinocerebellar Ataxia Type 2	Gait ataxia, Chorea, Abnormal substantia nigra morphology, Postural tremor, Parkinsonism, Kinetic...	ORPHA:98756
Wolfram-Like Syndrome	Respiratory insufficiency, Male hypogonadism, Delayed puberty, Depression, Anxiety, Progressive c...	ORPHA:411590
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Kyphoscoliosis, Macrocephaly, Hydrocephalus, Spastic tetraplegia	OMIM:300886
Xfe Progeroid Syndrome	Ventriculomegaly, Premature ovarian insufficiency, Poor coordination, Cachexia, Failure to thrive...	OMIM:610965
Vacterl Association With Hydrocephalus	Respiratory insufficiency, Aqueductal stenosis, Hydrocephalus, Stillbirth, Respiratory failure	OMIM:276950
Temple Syndrome	Short stature, Small for gestational age, Hydrocephalus, Relative macrocephaly, Scoliosis, Obesit...	ORPHA:254516
Microcephaly, Amish Type	Limb hypertonia, Primary microcephaly, Myoclonus, Failure to thrive, Partial agenesis of the corp...	OMIM:607196
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Shoulder dislocation, Kyphosis, Hydrocephalus, Gait disturbance, Hemiplegia, Scoliosis	ORPHA:2181
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Decreased body weight, Short stature, Kyphosis, Small for gestational age, Delayed ossification o...	OMIM:618392
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microcephaly, Lateral ventricle dilatation	OMIM:614105
Congenital Muscular Dystrophy With Cerebellar Involvement	Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Hypoplasia of the brainstem, Vent...	ORPHA:370959
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Aggressive behavior, Self-injurious behavior, Macrocephaly, Anxiety, Obesity, Failure to thrive i...	OMIM:613670
Huntington Disease-Like 2	Chorea, Weight loss, Parkinsonism, Gait disturbance, Involuntary movements	ORPHA:98934
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Gait disturbance, Ataxia, Impaired pain sensation, Tremor, Scoliosis	ORPHA:101075
Selective Igm Deficiency	Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro...	ORPHA:331235
Spinocerebellar Ataxia, Autosomal Recessive 10	Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations	OMIM:613728
O'Donnell-Luria-Rodan Syndrome	Aggressive behavior, Self-injurious behavior, Kyphosis, Macrocephaly, Skin-picking, Anxiety	OMIM:618512
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Falls, Rigidity, Apathy, Parkinsonism with favorable response to dopaminergic medication, Respira...	ORPHA:240085
Joubert Syndrome With Renal Defect	Encephalocele, Molar tooth sign on MRI, Oculomotor apraxia, Biparietal narrowing, Gait disturbanc...	ORPHA:220497
Joubert Syndrome 31	Truncal ataxia, Oculomotor apraxia, Molar tooth sign on MRI, Ventriculomegaly	OMIM:617761
Rapid-Onset Dystonia-Parkinsonism	Gait ataxia, Resting tremor, Parkinsonism, Torticollis, Emotional lability, Depression, Anxiety, ...	ORPHA:71517
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia, Cerebellar cyst, Hydroc...	OMIM:615181
Neuropathy, Congenital Hypomyelinating, 3	Respiratory insufficiency, Spasticity, Cachexia, Babinski sign, Microcephaly	OMIM:618186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Hyperlordosis, Vertebral fusion, Tip-toe gait, Ventriculomegaly, Kyphosis, Restrictive ventilator...	OMIM:606612
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Spasticity, Aqueductal stenosis, Hydrocephalus, Hemiplegia/hemiparesis, Holoprosencephaly, Agenes...	ORPHA:2182
Ichthyosis Prematurity Syndrome	Asthma, Neonatal asphyxia, Erythroderma, Allergic rhinitis	OMIM:608649
16P13.2 Microdeletion Syndrome	Dilated third ventricle, Aggressive behavior, Ventriculomegaly, Kyphosis, Hypogonadism, Asthma, S...	ORPHA:500055
Weaver Syndrome	Poor fine motor coordination, Spasticity, Ventriculomegaly, Kyphosis, Lateral ventricle dilatatio...	OMIM:277590
Lennox-Gastaut Syndrome	Aggressive behavior, Falls, Abnormal brainstem morphology, Myoclonus, Personality disorder	ORPHA:2382
Geniospasm 1	Chin myoclonus, Anxiety	OMIM:190100
Gabriele-De Vries Syndrome	Tip-toe gait, Patellar dislocation, Lateral ventricle dilatation, Tremor, Anxiety, Intrauterine g...	OMIM:617557
Spermatogenic Failure 35	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe...	OMIM:618341
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Nasu-Hakola Disease	Chorea, Spasticity, Ventriculomegaly, Oculomotor apraxia, Hydrocephalus, Irritability	ORPHA:2770
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Spasticity, Abnormal pyramidal sign, Hydrocephalus, Babinski sign, Secondary microcephaly, Microc...	OMIM:615599
Greig Cephalopolysyndactyly Syndrome	Delayed cranial suture closure, Ventriculomegaly, Joint contracture of the hand, Hydrocephalus, M...	OMIM:175700
Developmental And Epileptic Encephalopathy 11	Hyperkinetic movements, Spastic tetraplegia	OMIM:613721
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Chorea, Falls, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Choreoathetosis...	ORPHA:13
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Biemond Syndrome Type 2	Short stature, Hypogonadism, Hydrocephalus, Delayed puberty, Hypogonadotropic hypogonadism, Obesity	ORPHA:141333
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Joubert Syndrome 7	Neonatal breathing dysregulation, Genu valgum, Hypoplasia of the brainstem, Encephalocele, Molar ...	OMIM:611560
Lissencephaly 5	Cerebellar hemisphere hypoplasia, Hypoplasia of the brainstem, Hydrocephalus, Occipital encephalo...	OMIM:615191
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ventriculomegaly, Ulnar deviation of the wrist, Hydrocephalus, Unilambdoid synostosis, Scoliosis,...	OMIM:618577
Silver-Russell Syndrome	Delayed cranial suture closure, Short stature, Cachexia, Relative macrocephaly, Secondary microce...	ORPHA:813
Spermatogenic Failure 72	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular...	OMIM:619867
Spermatogenic Failure 34	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s...	OMIM:618153
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Depression, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia	OMIM:204300
Scheie Syndrome	Rhinitis, Splenomegaly	ORPHA:93474
Craniotelencephalic Dysplasia	Craniosynostosis, Arrhinencephaly, Hydrocephalus, Microcephaly, Frontal encephalocele, Agenesis o...	ORPHA:1528
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Chromosome 6Q24-Q25 Deletion Syndrome	Lateral ventricle dilatation, Hydrocephalus, Respiratory distress, Growth delay, Intrauterine gro...	OMIM:612863
Brachyolmia Type 1, Hobaek Type	Back pain, Intervertebral space narrowing, Kyphosis, Squared-off platyspondyly, Flat acetabular r...	OMIM:271530
Familial Cold Autoinflammatory Syndrome 3	Asthma, Hashimoto thyroiditis, Recurrent otitis media, Allergic rhinitis	OMIM:614468
Lethal Osteosclerotic Bone Dysplasia	Delayed cranial suture closure, Respiratory distress, Short neck, Dyspnea, Microcephaly, Large fo...	ORPHA:1832
Keppen-Lubinsky Syndrome	Respiratory insufficiency, Lateral ventricle dilatation, Spastic tetraparesis, Recurrent pneumoni...	OMIM:614098
Pontocerebellar Hypoplasia, Type 4	Spasticity, Hypoplasia of the brainstem, Myoclonus, Hypoplasia of the pons, Microcephaly, Hyperto...	OMIM:225753
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Inability to walk, Myoclonus, Choreoathetosis, Secondary microcephaly, Hyperkinetic movements	OMIM:618497
Mitochondrial Complex I Deficiency, Nuclear Type 15	Spastic tetraplegia, Kyphosis, Failure to thrive, Irritability, Intrauterine growth retardation	OMIM:618237
Isolated Succinate-Coq Reductase Deficiency	Knee flexion contracture, Spasticity, Mild microcephaly, Weight loss, Ataxia, Babinski sign, Spas...	ORPHA:3208
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Hemiplegia/hemiparesis, Microcephaly, Craniosynostosis, Agenesis of corpus c...	ORPHA:1496
Papillary Tumor Of The Pineal Region	Hydrocephalus, Episodic ataxia, Difficulty walking, Increased CSF protein concentration	ORPHA:251915
Hydrolethalus Syndrome 2	Molar tooth sign on MRI, Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:614120
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica...	ORPHA:314632
Microsporidiosis	Prostatitis, Myositis, Decreased proportion of CD4-positive helper T cells, Pneumonia, Endocardit...	ORPHA:2552
X-Linked Intellectual Disability, Stocco Dos Santos Type	Small for gestational age, Short stature, Congenital bilateral hip dislocation, Kyphosis	ORPHA:85288
Autosomal Spastic Paraplegia Type 58	Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Spastic ataxia, Tip-toe gait, Abnormal pyrami...	ORPHA:397946
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Knee flexion contracture, Spasticity, Hip contracture, Increased head circumference, Lateral vent...	OMIM:300868
Lower Motor Neuron Syndrome With Late-Adult Onset	Impaired distal vibration sensation, Inability to walk, Gait disturbance, Upper motor neuron dysf...	ORPHA:276435
Developmental And Epileptic Encephalopathy 109	Gait ataxia, Spasticity, Primary microcephaly, Crouch gait, Myoclonus, Failure to thrive, Dyspnea...	OMIM:620145
Joubert Syndrome With Ocular Defect	Encephalocele, Molar tooth sign on MRI, Oculomotor apraxia, Biparietal narrowing, Gait disturbanc...	ORPHA:220493
Intellectual Developmental Disorder, Autosomal Dominant 35	Gait ataxia, Ventriculomegaly, Hydrocephalus, Macrocephaly, Congenital hip dislocation, Scoliosis...	OMIM:616355
Pgm3-Cdg	T lymphocytopenia, Bronchiectasis, Eczema, Bone marrow hypocellularity, Eosinophilia, Decreased p...	ORPHA:443811
Basal Ganglia Calcification, Idiopathic, 5	Chorea, Parkinsonism, Apathy, Depression, Anxiety, Athetosis	OMIM:615483
Joubert Syndrome 30	Molar tooth sign on MRI, Ventriculomegaly, Apnea, Superior cerebellar dysplasia, Cerebellar atrop...	OMIM:617622
Schwartz-Jampel Syndrome	Respiratory insufficiency, Wrist flexion contracture, Blepharospasm, Decreased body weight, Cache...	ORPHA:800
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hypoplasia of the brainstem, Ventriculomegaly, Akinesia, Hydrocephalus, Pterygium, Dandy-Walker m...	OMIM:225790
Medulloblastoma	Cerebellar ataxia associated with quadrupedal gait, Delayed cranial suture closure, Back pain, Hy...	ORPHA:616
Facial Onset Sensory And Motor Neuronopathy	Paresthesia, Fasciculations	ORPHA:85162
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Gait disturbance, Ataxia, Impaired pain sensation, Tremor, Scoliosis	ORPHA:101078
Joubert Syndrome 20	Respiratory insufficiency, Aggressive behavior, Molar tooth sign on MRI, Inability to walk, Oculo...	OMIM:614970
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Short stature, Bipolar affective disorder, Scoliosis, Depression, Obesity	ORPHA:276630
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short stature, Cachexia, Hypertonia	ORPHA:1389
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Pontocerebellar Hypoplasia, Type 1E	Knee flexion contracture, Myoclonus, Elbow flexion contracture, Hypoplasia of the pons, Respirato...	OMIM:619303
Developmental And Epileptic Encephalopathy 6B	Chorea, Inability to walk, Myoclonus, Choreoathetosis, Ataxia, Scoliosis, Hyperkinetic movements	OMIM:619317
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Respiratory insufficiency, Abnormal brainstem MRI signal intensity	ORPHA:263410
48,Xxyy Syndrome	Ventriculomegaly, Asthma, Infertility, Azoospermia, Radioulnar synostosis, Ataxia, Elbow dislocat...	ORPHA:10
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Spasticity, Short stature, Cachexia, Hydrocephalus, Ataxia, Microcephaly	ORPHA:220295
Greig Cephalopolysyndactyly Syndrome	Macrocephaly, Craniosynostosis, Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Developmental And Epileptic Encephalopathy 54	Myoclonus, Microcephaly, Ventriculomegaly	OMIM:617391
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Spasticity, Kyphosis, Macrocephaly, Gait disturbance, Scoliosis, Truncal obesity	ORPHA:2429
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Premature ovarian insufficiency, Ataxia, Difficulty walking, Depression, Anxiety, Amenorrhea	OMIM:619425
Renpenning Syndrome	Growth delay, Severe short stature, Cachexia, Microcephaly	ORPHA:3242
Spermatogenic Failure 65	Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m...	OMIM:619712
Gerstmann-Straussler Disease	Gait ataxia, Spasticity, Aggressive behavior, Weight loss, Parkinsonism, Truncal ataxia, Rigidity...	OMIM:137440
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Spastic ataxia, Microcephaly, Scoliosis, Anxiety, Craniosynostosis	OMIM:618906
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Erratic myoclonus, Recurrent aspiration pneumonia, Spastic tetraplegia, Myoclonus, Ataxia, Atroph...	OMIM:619971
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchiectasis, Allergic rhinitis, Asthma, Skin rash, Arthritis, Rheumatoid arthritis, Chronic si...	ORPHA:183675
Epilepsy, Progressive Myoclonic, 11	Rigidity, Myoclonus, Intention tremor, Ataxia	OMIM:618876
Intellectual Developmental Disorder, Autosomal Recessive 6	Postural tremor, Torticollis, Myoclonus, Kinetic tremor, Involuntary movements	OMIM:611092
Immunodeficiency 58	Nasal congestion, Recurrent aphthous stomatitis, Bronchiectasis, Allergic rhinitis, Asthma, Eczem...	OMIM:618131
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Pontocerebellar Hypoplasia, Type 7	Spasticity, Hypoplasia of the brainstem, Ventriculomegaly, Oculomotor apraxia, Myoclonus, Choreoa...	OMIM:614969
Developmental And Epileptic Encephalopathy 1	Erratic myoclonus, Abnormal pyramidal sign, Ventriculomegaly, Choreoathetosis, Spastic tetrapares...	OMIM:308350
Prader-Willi Syndrome Due To Translocation	Head-banging, Lateral ventricle dilatation, Short stature, Happy demeanor, Respiratory distress, ...	ORPHA:177907
Microtriplication 11Q24.1	Genu valgum, Joint dislocation, Short stature, Short neck, Scoliosis, Microcephaly, Hyperkinetic ...	ORPHA:289522
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Chorea, Resting tremor, Limb hypertonia, Involuntary movements, Myoclonus, Choreoathetosis, Campt...	OMIM:606703
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Spermatogenic Failure 46	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:619095
Developmental And Epileptic Encephalopathy 56	Poor coordination, Ataxia, Action tremor, Scoliosis, Anxiety, Broad-based gait	OMIM:617665
Spermatogenic Failure 33	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:618152
Spermatogenic Failure 37	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:618429
Spermatogenic Failure 18	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:617576
Spermatogenic Failure 27	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s...	OMIM:617965
Methylcobalamin Deficiency Type Cble	Hypoplasia of the brainstem, Ventriculomegaly, Hydrocephalus, Failure to thrive, Scoliosis, Micro...	ORPHA:2169
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Abnormal ...	ORPHA:370022
Behavioral Variant Of Frontotemporal Dementia	Inappropriate behavior, Aggressive behavior, Emotional blunting, Abnormality of extrapyramidal mo...	ORPHA:275864
Cole-Carpenter Syndrome 2	Kyphosis, Short stature, Coronal craniosynostosis, Macrocephaly, Hydrocephalus, Wormian bones, Wi...	OMIM:616294
Noonan Syndrome 14	Short stature, Kyphosis, Lateral ventricle dilatation, Short neck, Limited elbow extension, Cubit...	OMIM:619745
Acromesomelic Dysplasia, Maroteaux Type	Hyperlordosis, Kyphosis, Vertebral wedging, Disproportionate short stature, Ovoid vertebral bodie...	ORPHA:40
Joubert Syndrome 9	Encephalocele, Ventriculomegaly, Molar tooth sign on MRI, Episodic tachypnea, Oculomotor apraxia,...	OMIM:612285
Metatropic Dysplasia	Camptodactyly of finger, Kyphosis, Hydrocephalus, Severe short stature, Abnormal intervertebral d...	ORPHA:2635
Mitochondrial Neurogastrointestinal Encephalomyopathy	Paresthesia, Weight loss, Cachexia, Hypergonadotropic hypogonadism, Increased CSF protein concent...	ORPHA:298
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Wrist swelling, Camptodactyly of finger, Cachexia, Gait disturbance, Abnormality of the wrist, Ca...	ORPHA:2774
H Syndrome	Bronchiectasis, Decreased testicular size, Hydrocephalus, Recurrent pharyngitis, Hepatosplenomega...	ORPHA:168569
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hip subluxation, Spasticity, Ventriculomegaly, Primary microcephaly, Myoclonus, Secondary microce...	ORPHA:500144
Thanatophoric Dysplasia	Respiratory insufficiency, Ventriculomegaly, Kyphosis, Macrocephaly, Hydrocephalus, Disproportion...	ORPHA:2655
Combined Oxidative Phosphorylation Deficiency 51	Aspiration pneumonia, Rigidity, Small for gestational age, Myoclonus, Severe short stature, Growt...	OMIM:619057
Spastic Ataxia 2, Autosomal Recessive	Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t...	OMIM:611302
Spermatogenic Failure 56	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh...	OMIM:619515
Sporadic Creutzfeldt-Jakob Disease	Spasticity, Abnormal pyramidal sign, Recurrent aspiration pneumonia, Abnormality of extrapyramida...	ORPHA:204
Pandas	Chorea, Abnormal fear/anxiety-related behavior, Separation insecurity, Clumsiness, Emotional labi...	ORPHA:66624
Frontal Encephalocele	Spina bifida, Hydrocephalus, Encephalocele	ORPHA:1931
Epilepsy, Progressive Myoclonic, 6	Myoclonus, Ataxia, Loss of ambulation, Tremor, Difficulty walking, Scoliosis	OMIM:614018
Eosinophilic Gastroenteritis	Anemia, Allergic rhinitis, Asthma, Leukocytosis, Eosinophilia, Atopic dermatitis	ORPHA:2070
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Depression, Anxiety, Bradykinesia	OMIM:605909
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Short stature, Kyphosis, Hip dislocation, Scoliosis, Microcephaly	OMIM:300434
Classic Galactosemia	Primary amenorrhea, Decreased fertility in females, Gait imbalance, Postural tremor, Secondary am...	ORPHA:79239
Chiari Malformation Type Ii	Myelomeningocele, Spina bifida, Hydrocephalus, Ataxia, Cervical myelopathy, Opisthotonus, Inspira...	OMIM:207950
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Claw hand deformity, Distal sensory impairment, Steppage gait, Fasciculations	OMIM:606595
Peho-Like Syndrome	Progressive microcephaly, Ventriculomegaly, Myoclonus	OMIM:617507
Dentatorubral-Pallidoluysian Atrophy	Chorea, Parkinsonism, Myoclonus, Choreoathetosis, Ataxia	OMIM:125370
Epilepsy, Progressive Myoclonic 7	Myoclonus, Tremor, Ataxia	OMIM:616187
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Spasticity, Abnormal pyramidal sign, Hydrocephalus, Babinski sign, Secondary microcephaly	ORPHA:397951
Myoclonus, Cerebellar Ataxia, And Deafness	Myoclonus, Ataxia	OMIM:159800
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Autosomal Recessive Spastic Paraplegia Type 48	Progressive spastic paraplegia, Abnormality of the cervical spine, Spastic gait, Parkinsonism, My...	ORPHA:306511
Familial Infantile Bilateral Striatal Necrosis	Gait ataxia, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Ataxia, Babinski...	ORPHA:225154
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