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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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
phenotypes
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
Acalvaria