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
Short stature, Abnormal central microtubular pair morphology of respiratory motile cilia, Chronic... OMIM:612649
Ciliary Dyskinesia, Primary, 6
Sinusitis, Abnormal respiratory motile cilium morphology, Recurrent sinusitis, Ciliary dyskinesia... OMIM:610852
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Depression, Scoliosis, Parkinsonism, Hemiparesis, Lateral ventricle dilatation, Dif... ORPHA:306669
Ciliary Dyskinesia With Excessively Long Cilia
Sinusitis, Airway obstruction, Nasal polyposis, Abnormal respiratory motile cilium morphology, Ch... OMIM:242680
Atypical Teratoid Rhabdoid Tumor
Apathy, Macrocephaly, Hydrocephalus, Ataxia, Hemiplegia/hemiparesis, Cerebral palsy, Irritability ORPHA:99966
Ciliary Dyskinesia, Primary, 16
Pulmonary insufficiency, Chronic rhinitis, Chronic sinusitis, Ciliary dyskinesia, Abnormal ciliar... OMIM:614017
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... OMIM:611884
Masa Syndrome
Kyphosis, Hydrocephalus, Macrocephaly, Short stature, Microcephaly, Hyperlordosis, Spastic parapl... OMIM:303350
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Ciliary dyskinesia, Immotile cilia, Bronchiectasis OMIM:616481
Ciliary Dyskinesia, Primary, 28
Respiratory insufficiency due to defective ciliary clearance, Rhinitis, Recurrent sinusitis, Cili... OMIM:615505
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:215520
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Absent outer dynein arms, Respirato... OMIM:614874
Ciliary Dyskinesia, Primary, 12
Chronic pulmonary obstruction, Short stature, Abnormal central microtubular pair morphology of re... OMIM:612650
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Chronic otitis media, Cough, Chronic rhinitis, Recurrent sinusitis, Chronic sinus... OMIM:612444
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, R... OMIM:615451
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Cach Syndrome
Apathy, Abnormal pons morphology, Irritability, Limb ataxia, Dysmetria, Spastic diplegia, Microce... ORPHA:135
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Chronic rhinitis, Ciliary dyskinesia, Abnormal respiratory system phy... OMIM:242670
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Hydrocephalus, Macrocephaly, Ataxia, Microcephaly, Ventriculomegaly, Abnormal v... OMIM:618709
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Absent outer d... OMIM:613193
Ciliary Dyskinesia, Primary, 14
Bronchiectasis, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ci... OMIM:613807
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Absent central microtubular pair morphology of respiratory motile cilia, Chronic ... OMIM:617091
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypertonia, Inappropriate crying, Craniosynostosis, Myoclonus, Short neck, Lateral ventricle dila... ORPHA:284417
Severe X-Linked Intellectual Disability, Gustavson Type
Hypertonia, Small for gestational age, Severe postnatal growth retardation, Small fontanelle, Mic... ORPHA:3078
Ciliary Dyskinesia, Primary, 24
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis OMIM:615481
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Chronic rhinitis, C... OMIM:618699
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... OMIM:615504
Ciliary Dyskinesia, Primary, 26
Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis, Ciliary dyskin... OMIM:615500
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Spastic paraparesis, Resting tremor, Ankle clonus, Dilated third ventricle, Babinsk... ORPHA:363654
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:619436
Ciliary Dyskinesia, Primary, 21
Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasis, Neonatal respiratory ... OMIM:615294
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary... OMIM:615067
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Ciliary Dyskinesia, Primary, 10
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Chronic sinusitis, Recurrent s... OMIM:612518
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Ciliary Dyskinesia, Primary, 17
Cough, Abnormal respiratory motile cilium morphology, Chronic rhinitis, Chronic sinusitis, Ciliar... OMIM:614679
Ciliary Dyskinesia, Primary, 33
Cough, Chronic rhinitis, Recurrent bronchitis, Ciliary dyskinesia, Recurrent pneumonia, Recurrent... OMIM:616726
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Depression, Cachexia, Anxiety, Babinski sign, Parkinsonism, Chorea, Tremor, Ga... OMIM:618093
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Asthma, Sinusitis, Recurrent upper and lower respiratory tract infections, Otitis media, Atopic d... ORPHA:70593
Malan Overgrowth Syndrome
Hypoplasia of the brainstem, Macrocephaly, Anxiety, Scoliosis, Lateral ventricle dilatation, Vent... ORPHA:420179
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Inappropriate crying, Microcephaly, Atrophy/Degeneration affecting the ... ORPHA:77299
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Absent inner and outer dynein arms, Immotile cilia, Bronchiectasis OMIM:618801
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Wheezing, Cough, Chronic sinusitis, R... OMIM:613808
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Macrocephaly, Normal pressure hydrocephalus, Gait disturbance, Tremor, Kinetic tremor, Ventriculo... OMIM:611808
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia OMIM:615872
Ciliary Dyskinesia, Primary, 30
Asthma, Respiratory insufficiency due to defective ciliary clearance, Respiratory insufficiency, ... OMIM:616037
Ciliary Dyskinesia, Primary, 3
Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Decreased... OMIM:608644
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia, Wide nasal bridge OMIM:209970
Lissencephaly 4
Hypertonia, Short stature, Babinski sign, Primary microcephaly, Growth delay, Colpocephaly, Agene... OMIM:614019
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Juvenile Temporal Arteritis
Allergic rhinitis, Eosinophilia, Conjunctivitis, Leukocytosis ORPHA:26137
Ciliary Dyskinesia, Primary, 25
Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis... OMIM:615482
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:225050
Foxg1 Syndrome
Motor stereotypy, Kyphoscoliosis, Inability to walk, Decreased body weight, Inappropriate crying,... ORPHA:561854
Christianson Syndrome
Conspicuously happy disposition, Motor stereotypy, Cachexia, Microcephaly, Truncal ataxia, Gait a... ORPHA:85278
Ige Responsiveness, Atopic
Asthma, Eczema, Allergic rhinitis OMIM:147050
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Otitis media, Purulent rhinitis, B lymphocytopenia, Arthritis, T lymphocytopenia, Pneumonia, Conj... OMIM:601457
Bilateral Generalized Polymicrogyria
Motor stereotypy, Self-injurious behavior, Short stature, Microcephaly, Lateral ventricle dilatat... ORPHA:208447
Familial Nasal Acilia
Respiratory distress, Abnormal respiratory motile cilium morphology, Chronic rhinitis, Chronic si... ORPHA:922
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Recurrent sinusiti... OMIM:614935
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Self-injurious behavior, Short stature, Microcephaly, Scoliosis, Chorea, Latera... ORPHA:178469
Ciliary Dyskinesia, Primary, 22
Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Recurrent sinusiti... OMIM:615444
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Cerebellar hypoplasia, Partial agenesis of the corpus ... OMIM:604213
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Cough, Chronic sinusitis, Bronchiectasis, Neonatal respiratory distress, Rh... OMIM:618063
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Decreased nasal nitric oxide, Cough, Chronic rhin... OMIM:618300
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Motor stereotypy, Kyphoscoliosis, Inability to walk, Normal pressure hydrocephalus, ... ORPHA:300570
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Slender build, Hypertonia, Macrocephaly, Self-injurious behavior, Short stature, Myoclonus, Aggre... OMIM:300699
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormal CSF pyruvate family amino acid concentration, Ataxia, Inability to walk, Increased CSF l... ORPHA:79243
Pineocytoma
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia ORPHA:251912
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Central Neurocytoma
Hydrocephalus, Ataxia, Pain insensitivity, Depression, Babinski sign, Paresthesia, Abnormal later... ORPHA:73256
Band Heterotopia
Hydrocephalus, Macrocephaly, Ventriculomegaly, Spasticity, Agenesis of corpus callosum OMIM:600348
Ciliary Dyskinesia, Primary, 35
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Nasal polyposis OMIM:617092
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Depression, Myoclonus, Rig... ORPHA:248111
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Hydrocephalus, Microcephaly, Tremor, Elbow flexion contractur... OMIM:619470
Combined Oxidative Phosphorylation Defect Type 39
Loss of ambulation, Increased CSF lactate, Tip-toe gait, Ankle clonus, Microcephaly, Limb hyperto... ORPHA:565624
Slc35A2-Cdg
Inability to walk, Craniosynostosis, Short stature, Camptodactyly of finger, Microcephaly, Scolio... ORPHA:356961
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Neurodevelopmental Disorder With Involuntary Movements
Self-injurious behavior, Microcephaly, Hyperkinetic movements, Chorea, Athetosis, Involuntary mov... OMIM:617493
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent sinusitis, Recurrent pneumonia, Absent central microtubular pair morphology of respirat... OMIM:620032
Distal Monosomy 10Q
Failure to thrive, Ataxia, Lumbar hyperlordosis, Postnatal growth retardation, Poor fine motor co... ORPHA:96148
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Nasal polyposis, Ciliary dyskinesia, Bronchiectasis, Absent inne... OMIM:606763
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Poor gross motor coordination, Cerebral palsy, Akinetic mutism, Scoliosis, Lateral ventricle dila... ORPHA:2148
Alexander Disease
Apathy, Hydrocephalus, Ataxia, Dysmetria, Babinski sign, Increased CSF protein, Spasticity, Progr... OMIM:203450
Polymicrogyria Due To Tubb2B Mutation
Microcephaly, Hypoplasia of the pons, Oromotor apraxia, Abnormal brainstem morphology, Hemiparesi... ORPHA:300573
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Communicating hydrocephalus, Chronic rhinitis, Anosmia, Ciliary dyskinesia,... OMIM:244400
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cerebellar vermis morphology, Cerebellar hypoplasia ORPHA:2703
Ciliary Dyskinesia, Primary, 5
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, R... OMIM:608647
Creutzfeldt-Jakob Disease
Apathy, Extrapyramidal muscular rigidity, Depression, Myoclonus, Anxiety, Hemiparesis, Gait ataxi... OMIM:123400
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... OMIM:301082
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Gait imbalance, Dysplastic corpus callosum, Gait disturbance, Lateral ventricle dilatation, Diffi... ORPHA:488627
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Motor stereotypy, Wide anterior fontanel, Ataxia, Macrocephaly, Congenital hip dislocation, Scoli... ORPHA:457279
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Spermatogenic Failure 38
Coiled sperm flagella, Abnormal axonemal organization of respiratory motile cilia, Oligospermia, ... OMIM:618433
Ciliary Dyskinesia, Primary, 37
Wheezing, Chronic rhinitis, Rhinorrhea, Bronchiectasis, Goiter OMIM:617577
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation, Hemiparesis ORPHA:101071
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Agenesis of corpus callosum, Rhizomelia OMIM:166990
Fried Syndrome
Hydrocephalus, Spastic diplegia, Scoliosis, Gait disturbance, Aggressive behavior ORPHA:85335
Riboflavin Transporter Deficiency
Sleep apnea, Ataxia, Cachexia, Respiratory insufficiency, Myoclonus, Tremor, Aggressive behavior,... ORPHA:97229
Autosomal Recessive Spastic Paraplegia Type 11
Paraparesis, Ataxia, Inability to walk, Scoliosis, Parkinsonism, Gait disturbance, Lateral ventri... ORPHA:2822
Intellectual Developmental Disorder, X-Linked 12
Short stature, Depression, Small for gestational age, Microcephaly, Anxiety, Hyperkinetic movemen... OMIM:300957
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Ataxia, Failure to thrive, Short stature, Anxiety, Progressive microcephaly, Tongue fas... OMIM:620007
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Macrocephaly, Self-mutilation, Microcephaly, Abnormal pyramidal sign, Scoliosis, A... OMIM:300884
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Dysmetria, Limb hypertonia, Dilated fourth ventricle, Athetosis, Lateral ventricle dilata... ORPHA:572798
Felty Syndrome
Sinusitis, Rhinitis, Splenomegaly, Chronic otitis media, Abnormal lymphocyte morphology, Thromboc... ORPHA:47612
Pettigrew Syndrome
Hydrocephalus, Self-injurious behavior, Scoliosis, Choreoathetosis, Gait ataxia, Ventriculomegaly... OMIM:304340
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Self-injurious behavior, Microcephaly, Myoclonus, Scoliosis, Hyperkinetic move... OMIM:614254
Fanconi Anemia, Complementation Group R
Microcephaly, Hydrocephalus OMIM:617244
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Babinski sign, Scoliosis, Gait disturbance, Spastic paraplegia, Upper limb spasticity, ... OMIM:611225
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Atypical Rett Syndrome
Inability to walk, Hand apraxia, Tongue thrusting, Tremor, Spasticity, Sudden episodic apnea, Los... ORPHA:3095
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramidal sign, Truncal ataxia, F... ORPHA:95434
Dermatitis, Atopic
Asthma, Recurrent skin infections, Eczema, Atopic dermatitis, Allergic rhinitis, Conjunctivitis OMIM:603165
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Hydrocephalus OMIM:266100
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Inability to walk by childhood/adolescence, Hydrocephalus, Poor fine motor coordination, Hand tre... ORPHA:99947
Epilepsy, Progressive Myoclonic, 9
Myoclonus, Gait ataxia, Scoliosis, Ventriculomegaly OMIM:616540
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Microcephaly, Myoclonus, Hypoplasia of the pons, Scoliosis, Ventriculomegaly, Spasticity, Agenesi... OMIM:617669
Baker-Gordon Syndrome
Motor stereotypy, Sleep apnea, Ataxia, Inability to walk, Self-injurious behavior, Scoliosis, Hyp... OMIM:618218
Gómez-López-Hernández Syndrome
Hydrocephalus, Abnormal cerebellum morphology, Short stature, Abnormal brainstem morphology, Cere... ORPHA:1532
Alg13-Cdg
Decreased body weight, Abnormal lateral ventricle morphology, Clumsiness ORPHA:324422
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Short stature, Cachexia, Microcephaly, Ventriculomegaly ORPHA:1933
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Increased CSF lactate, Cachexia, Gait ataxia, Weight loss OMIM:612075
Epilepsy, Early-Onset, Vitamin B6-Dependent
Apnea, Hypertonia, Respiratory insufficiency, Myoclonus, Ventriculomegaly, Clonus, Secondary micr... OMIM:617290
Pelizaeus-Merzbacher Disease
Kyphosis, Ataxia, Short stature, Cachexia, Microcephaly, Respiratory insufficiency, Scoliosis, Ga... ORPHA:702
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Depression, Myoclonus, Anxiety, Parkinsonism, Inappropriate behavior, Rigidity, Chorea, T... ORPHA:401901
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Kyphosis, Ataxia, Inability to walk, Lumbar hyperlordosis, Short stature, Micro... OMIM:616756
Huntington Disease
Gait imbalance, Inability to walk, Babinski sign, Chorea, Difficulty walking, Abnormal libido, We... ORPHA:399
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Hydrocephalus, Microcephaly, Gait disturbance, Lethargy ORPHA:26
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive, Impaired vibratory sensation, Microcephaly, Ventriculomegaly, Clonus... ORPHA:319199
Diencephalic Syndrome
Cachexia, Hydrocephalus, Decreased body weight ORPHA:1672
Arnold-Chiari Malformation Type Ii
Paraparesis, Apnea, Hydrocephalus, Ataxia, Difficulty walking, Spasticity, Pneumonia, Brain stem ... ORPHA:1136
Cog5-Cdg
Joint contracture of the hand, Short stature, Camptodactyly of finger, Short neck, Microcephaly, ... ORPHA:263487
Primary Ciliary Dyskinesia
Hydrocephalus, Airway obstruction, Chronic otitis media, Neonatal respiratory distress, Wheezing,... ORPHA:244
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis, Distal sensory impairment, Difficulty walking, Respiratory insufficiency due... OMIM:617087
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait imbalance, Gait ataxia, Growth delay, Abnormal lateral ventricle morphology, Intrauterine gr... ORPHA:488635
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea, Hydrocephalus, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis OMIM:300864
Congenital Muscular Dystrophy Due To Lmna Mutation
Spinal rigidity, Cachexia, Respiratory insufficiency, Hyperlordosis, Gait disturbance ORPHA:157973
Leishmaniasis
Rhinitis, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Pancytopeni... ORPHA:507
Myoclonus-Dystonia Syndrome
Torticollis, Depression, Spinal myoclonus, Myoclonus, Anxiety, Panic attack, Limb myoclonus, Pers... ORPHA:36899
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Lymphopenia, Rhinitis, Recurrent skin infections, Eosinophilia, Monocytosis, Aplas... ORPHA:486
Rett Syndrome
Kyphosis, Apnea, Short stature, Gait apraxia, Cachexia, Scoliosis, Truncal ataxia, Stereotypical ... OMIM:312750
Achondroplasia
Hydrocephalus, Lumbar hyperlordosis, Neonatal short-limb short stature, Lumbar kyphosis in infanc... OMIM:100800
Clcn4-Related X-Linked Intellectual Disability Syndrome
Macrocephaly, Progressive cerebellar ataxia, Self-injurious behavior, Depression, Microcephaly, A... ORPHA:485350
Mulibrey Nanism
Cachexia, Macrocephaly, Intrauterine growth retardation, Short stature ORPHA:2576
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Rhizomelic arm shortening, Dilated third ventricle, Chronic lung disease, Tachypnea, Abnor... ORPHA:397715
Hao-Fountain Syndrome
Central sleep apnea, Delayed cranial suture closure, Speech apraxia, Aggressive behavior, Large f... OMIM:616863
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis, Inability to walk, Impulsivity, Microcephaly, Limb hypertonia, Abnormal pyramidal sign,... ORPHA:500180
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Ataxia, Dysmetria, Short stature, Intention tremor, Hypogonadotropic hypogonadism, Camp... ORPHA:48431
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Asthma, Dysplastic corpus callosum, Self-injurious behavior, Macrocephaly, Dilated third ventricl... ORPHA:544488
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem, Short stature OMIM:617862
Huntington Disease-Like 2
Apathy, Action tremor, Bradykinesia, Depression, Anxiety, Rigidity, Chorea, Weight loss, Irritabi... OMIM:606438
1Q21.1 Microduplication Syndrome
Failure to thrive, Hydrocephalus, Macrocephaly, Hypertonia, Hip dislocation ORPHA:250994
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Depression, Myoclonus, Babinski sign, Tremor, Emotional lability, Abnormality of extrapyr... OMIM:615362
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Macrocephaly, Short stature, Genu valgum, Abnormal vertebral morphology, Molar t... ORPHA:166024
Hsd10 Disease
Ataxia, Spastic paraparesis, Microcephaly, Myoclonus, Rigidity, Gait disturbance, Tremor, Choreoa... ORPHA:391417
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Kyphosis, Macrocephaly, Short stature, Cachexia, Camptodactyly of finger, Short... ORPHA:85293
Alg2-Cdg
Lateral ventricle dilatation, Microcephaly ORPHA:79326
Juvenile Amyotrophic Lateral Sclerosis
Hypertonia, Ataxia, Inability to walk, Tip-toe gait, Opisthotonus, Retrocollis, Spastic diplegia,... ORPHA:300605
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Conspicuously happy disposition, Self-injurious behavior, Severe failure to thrive, Short stature... ORPHA:371364
Autosomal Recessive Spastic Paraplegia Type 66
Impaired vibration sensation in the lower limbs, Limb hypertonia, Difficulty walking, Progressive... ORPHA:401815
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Microcephaly, Babinski sign, Myoclonus, Frequent falls, Tremor, Gait ataxia, Spasticity, ... OMIM:607317
Choreoacanthocytosis
Falls, Chorea, Emotional lability, Weight loss, Slurred speech, Hypertonia, Loss of ambulation, S... ORPHA:2388
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Inappropriate crying, Hyperkinetic movements, Stereotypical hand wringin... ORPHA:397933
Moynahan Syndrome
Cachexia, Microcephaly, Short stature, Hypogonadism ORPHA:2574
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Microcephaly, Myoclonus, Spasticity, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Intrauterine growth retardation, Hydrocephalus, Ataxia, Self-injurious behavior, Failure to thriv... OMIM:619833
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Dy... ORPHA:98810
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Kyphoscoliosis, Resting tremor, Short s... ORPHA:3077
Congenital Disorder Of Glycosylation, Type In
Failure to thrive, Ataxia, Short stature, Microcephaly, Short neck, Respiratory insufficiency, My... OMIM:612015
Hurler-Scheie Syndrome
Rhinitis, Splenomegaly ORPHA:93476
Glut1 Deficiency Syndrome 1
Ataxia, Hypoglycorrhachia, Babinski sign, Myoclonus, Paroxysmal lethargy, Hemiparesis, Choreoathe... OMIM:606777
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Immunodeficiency By Defective Expression Of Mhc Class Ii
Acute otitis media, Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Chronic hepa... ORPHA:572
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Inability to walk, Contracture of the proximal interphalangeal joint of the 3rd finger,... ORPHA:464738
Infantile Krabbe Disease
Respiratory distress, Failure to thrive, Opisthotonus, Inappropriate crying, Ankle clonus, Decere... ORPHA:206436
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hypertonia, Inability to walk, Cachexia, Microcephaly, Short neck, Scoliosis, Spasticity, Intraut... OMIM:616801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Respiratory insufficiency, Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis... OMIM:613153
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Myoclonus, Anxiety, Tremor, Hypoplasia of the brainstem OMIM:619651
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Hypertonia, Ataxia, Failure to thrive, Dysmetria, Intention tremor, Dysdiadochokinesis, Anxiety, ... OMIM:618356
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Respiratory insufficiency, Myoclonus, Scoliosis, Rigidity, Athetosis, Gait dis... OMIM:618241
Developmental And Epileptic Encephalopathy 69
Macrocephaly, Inability to walk, Myoclonus, Hyperkinetic movements, Spastic tetraplegia OMIM:618285
Glycine Encephalopathy
Impulsivity, Irritability, Myoclonus, Aggressive behavior, Agenesis of corpus callosum, Lethargy OMIM:605899
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation, Microcephaly, Growth delay ORPHA:85290
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait OMIM:616921
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Ataxia, Weight loss OMIM:613662
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Depressed nasal brid... OMIM:609637
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear/anxiety-related behavior, Macrocephaly, Pseudobulbar paralysis, Microcephaly, Suici... ORPHA:208441
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Broad-based gait, Kyphosis, Tip-toe gait, Babinski sign, Scoliosis, Hyperlordosis, Waddling gait,... OMIM:615290
Polymyoclonus, Infantile
Myoclonus, Ataxia, Irritability OMIM:263550
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal CSF pyruvate family amino acid concentration, Abnormal cerebellum morphology, Increased ... ORPHA:255182
Dystonia 11, Myoclonic
Torticollis, Agoraphobia, Depression, Myoclonus, Anxiety, Tremor OMIM:159900
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Anxiety, Hemiparesis, Tremor OMIM:141500
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Hypoglycorrhachia, Myoclonus, Hemiparesis, Chorea,... ORPHA:71277
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Periodontitis ORPHA:1008
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Dilated third ventricle... OMIM:619725
Dopa-Responsive Dystonia
Agoraphobia, Inability to walk, Poor coordination, Depression, Anxiety, Panic attack, Parkinsonis... ORPHA:255
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Flexion contracture of thumb, Hydrocephalus, Macrocephaly, Aqueductal stenosis, Spastic paraplegi... OMIM:307000
Alexander Disease
Hydrocephalus, Ataxia, Macrocephaly, Short neck, Chorea, Tremor, Spasticity, Emotional lability, ... ORPHA:58
Whipple Disease
Hydrocephalus, Ataxia, Depression, Cachexia, Respiratory insufficiency, Abnormal pyramidal sign, ... ORPHA:3452
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Depression, Simultanapraxia, C... ORPHA:157941
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Hydrocephalus, Partial agenesis of the corpus callosum, Spastic tetraplegia, Agenesis... OMIM:619302
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Macrocephaly, Congenital hip dislocation, Scoliosis, Ventriculomegaly, Respiratory fail... OMIM:618291
Postencephalitic Parkinsonism
Happy demeanor, Akinesia, Kyphosis, Bradykinesia, Resting tremor, Depression, Tremor by anatomica... ORPHA:97349
Ravine Syndrome
Apnea, Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology ORPHA:99852
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Depression, Anxiety, Parkinsonism, Hyperkinetic movements, Cho... OMIM:619738
X-Linked Creatine Transporter Deficiency
Hypertonia, Ataxia, Short stature, Self-mutilation, Cachexia, Microcephaly, Chorea, Athetosis ORPHA:52503
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Falls, Atrophy/Degeneration affecting t... OMIM:616230
Paroxysmal Hemicrania
Focal sensory seizure with olfactory features, Rhinitis, Rhinorrhea ORPHA:157835
Adult Krabbe Disease
Broad-based gait, Hemiplegia, Ataxia, Abnormal pons morphology, Acroparesthesia, Clumsiness, Hoff... ORPHA:206448
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Ciliary dyskinesia ORPHA:1882
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Parkinsonism, Rigidit... OMIM:605407
Coach Syndrome 2
Hydrocephalus, Apneic episodes in infancy, Cerebellar vermis hypoplasia, Hypertension, Molar toot... OMIM:619111
Congenital Hydrocephalus
Hydrocephalus, Macrocephaly, Colpocephaly, Ventriculomegaly ORPHA:2185
Yellow Nail Syndrome
Sinusitis, Rhinitis, Cough, Bronchiectasis, Dyspnea, Pulmonary arterial hypertension ORPHA:662
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Happy demeanor, Head-banging, Motor stereotypy, Short stature, Hypogonadotr... ORPHA:177907
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor OMIM:618425
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated CSF 4-hydroxybutyric acid concentration, Ataxia, Self-injurious behavior, Elevated CSF g... OMIM:271980
Mcdonough Syndrome
Kyphosis, Scoliosis, Cachexia, Short stature ORPHA:2471
Spastic Paraplegia 46, Autosomal Recessive
Infertility, Kyphosis, Upper limb spasticity, Impaired vibration sensation in the lower limbs, Up... OMIM:614409
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Myoclonus, Hyperkinetic movements, Choreoathetosis, Secondary microcephaly OMIM:618497
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Hydranencephaly, Intrauterine growth reta... OMIM:225790
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Apathy, Upper motor neuron dysfunction, Inappropriate behavior, Gait disturbanc... ORPHA:275864
Spinal Muscular Atrophy, Jokela Type
Tremor, Difficulty walking, Fasciculations, Distal sensory impairment OMIM:615048
Developmental And Epileptic Encephalopathy 37
Myoclonus, Rigidity, Hyperkinetic movements, Chorea, Gait disturbance, Cogwheel rigidity, Choreoa... OMIM:616981
Flynn-Aird Syndrome
Kyphosis, Ataxia, Cachexia, Scoliosis, Impaired pain sensation ORPHA:2047
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Depression, Myoclonus, Spasticity, Progressive microcephaly, Secondary microcephaly, Irri... OMIM:256730
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Hydrocephalus, Ataxia, Macrocephaly, Platyspondyly, Rigidity, Ventriculomegaly, Spastic... OMIM:618476
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Depression, Intention tremor, Myo... OMIM:607136
Kleeblattschaedel
Hydrocephalus OMIM:148800
Mitochondrial Complex I Deficiency, Nuclear Type 31
Failure to thrive, Myoclonus, Ventriculomegaly, Dysmetria OMIM:618251
4Q21 Microdeletion Syndrome
Motor stereotypy, Kyphosis, Self-injurious behavior, Short neck, Scoliosis, Tremor, Ventriculomeg... ORPHA:238750
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Myoclonus, Anxiety, Difficulty walking OMIM:619191
Striatonigral Degeneration, Infantile, Mitochondrial
Motor tics, Babinski sign, Mild microcephaly, Myoclonus, Chorea, Frequent falls, Difficulty walki... OMIM:500003
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus ORPHA:308
Raynaud-Claes Syndrome
Progressive cerebellar ataxia, Depression, Anxiety, Scoliosis, Aggressive behavior, Lower limb sp... OMIM:300114
Cdkl5-Deficiency Disorder
Kyphosis, Growth delay, Abnormal respiratory system physiology, Scoliosis, Stereotypical hand wri... ORPHA:505652
Chronic Actinic Dermatitis
Erythroderma, Allergic rhinitis, Eczema, Late onset atopic dermatitis ORPHA:330064
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Decreased body weight, Delayed ossification of carpal bones, Short stature, Small for g... OMIM:618392
Spinocerebellar Ataxia Type 1
Gait imbalance, Impaired proprioception, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, ... ORPHA:98755
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Loss of ambulation, Ataxia, Short stature, Scoliosis, Distal sensory impairment, Unstea... OMIM:618124
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Increased CSF lactate, Short stature, Spastic diplegia, Myoclonus, Babinski sign, Increas... OMIM:619065
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Self-mutilation, Depression, Short stature, Microcephaly, Anxiety, Hyperkinetic... ORPHA:457240
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Convex nasal ridge, Splenomegaly, Hepatosplenomegaly, Respiratory insufficiency, V... OMIM:610333
Huntington Disease-Like 1
Dysmetria, Depression, Anxiety, Rigidity, Chorea, Aggressive behavior, Unsteady gait, Incoordination OMIM:603218
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Hypertonia, Ataxia, Clumsiness, Babinski sign, Scoliosis, Abnormal pyramidal sign, Distal sensory... OMIM:616688
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Apnea, Ataxia, Short neck, Babinski sign, Tremor, Emotional lability, Resting tremor, Scoliosis, ... OMIM:300055
Achondroplasia
Spinal canal stenosis, Kyphosis, Wide anterior fontanel, Hydrocephalus, Lumbar hyperlordosis, Mac... ORPHA:15
Perry Syndrome
Akinesia, Apathy, Bradykinesia, Respiratory arrest, Depression, Central hypoventilation, Respirat... OMIM:168605
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Mandibular osteomyelitis, Osteomyelitis, Extramedull... OMIM:259710
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Limb ataxia, Hand tremor, Microcephaly, Respiratory insufficiency, Hypoplasia of the pons... OMIM:607596
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Asthma, Skin rash, Splenomegaly, Allergic rhinitis, Anemia OMIM:612714
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypertonia, Failure to thrive, Myoclonus, Decreased CSF homovanillic acid concentration, Unsteady... OMIM:610090
Temple Syndrome
Hydrocephalus, Relative macrocephaly, Short stature, Small for gestational age, Scoliosis, Trunca... OMIM:616222
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Kyphosis, Relative macrocephaly, Short stature, Emotional lability, Tremor, Ga... OMIM:300354
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Tip-toe gait, Microcephaly, Scoliosis, Hyperlordosis, Frequent falls, Difficulty walkin... OMIM:606612
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Macrocephaly, Craniosynostosis, Short stature, Short neck, Sacral dimple ORPHA:1516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Clumsiness, Myoclonus, Scoliosis, Limb myoclonus, Frequent falls, Recurrent as... ORPHA:2590
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Central sleep apnea, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, ... ORPHA:79262
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Gait disturbance, Limb dysmetria, Tremor, C... ORPHA:363710
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Depression, Myoclonus, Parkinsonism, Abnormality of extrapyramidal motor function OMIM:162350
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Spasticity, Secondary microcephaly, Let... OMIM:617829
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Episodic tachypnea, Apneic episodes in infancy, Abnormal brainstem morphology, Age... ORPHA:163961
Pontocerebellar Hypoplasia Type 4
Hypertonia, Myoclonus, Respiratory failure requiring assisted ventilation, Central apnea, Primary... ORPHA:166063
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Clumsiness, Impulsivity, Depression, Separat... ORPHA:66624
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Failure to thrive, Inability to walk, Irritability, Hyperkinetic movements, Athetosis, Loss of ab... OMIM:612073
Inherited Creutzfeldt-Jakob Disease
Apathy, Progressive extrapyramidal muscular rigidity, Progressive cerebellar ataxia, Bradykinesia... ORPHA:282166
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele, Cerebellar hypoplasia, Hypoplasia of the brainstem ORPHA:352682
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Clumsiness, Short stature, Microcephaly, Anxiety, Aggressive behavior OMIM:300558
16P13.2 Microdeletion Syndrome
Kyphosis, Hydrocephalus, Asthma, Impulsivity, Relative macrocephaly, Sleep apnea, Short stature, ... ORPHA:500055
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Inability to walk, Prominent metopic ridge, Microcephaly, Scoliosis, Gait ataxia, ... OMIM:616362
Autosomal Recessive Cutis Laxa Type 2A
Wide anterior fontanel, Dysplastic corpus callosum, Ataxia, Inability to walk, Delayed cranial su... ORPHA:357058
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Hypoplasia of the pons, Scoliosis, Hemiparesis, Midline brainstem cleft, Unsteady ... OMIM:617542
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Failure to thrive, Small for gestational age, Microcephaly, Anxiety, Gait ataxi... OMIM:609425
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Microcephaly, Hydrocephalus, Spasticity OMIM:304100
Neurodevelopmental Disorder With Dystonia And Seizures
Self-injurious behavior, Anxiety, Chorea, Athetosis, Ventriculomegaly, Spastic tetraplegia, Intra... OMIM:619922
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Hypoplasia of the pons, Ventriculomegaly, Dandy-Walker malformation OMIM:613154
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Microcephaly, Myoclonus, Tremor, Choreoathetosis, Irritability OMIM:261630
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Macrocephaly, Self-injurious behavior, Anxiety, Speech apraxia, Aggressive beha... OMIM:613670
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Dysmetria, Depression, Dysdiadochokinesis, Anxiety,... OMIM:604326
Ataxia-Telangiectasia-Like Disorder
Ataxia, Dysmetria, Short stature, Hypergonadotropic hypogonadism, Intention tremor, Dysdiadochoki... ORPHA:251347
Myoclonus, Familial, 1
Frequent falls, Myoclonus, Ataxia, Falls OMIM:614937
Sandhoff Disease
Kyphosis, Ataxia, Macrocephaly, Failure to thrive ORPHA:796
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Productive coug... ORPHA:60033
Narp Syndrome
Ataxia, Short stature, Babinski sign, Myoclonic spasms, Ventriculomegaly, Progressive gait ataxia... ORPHA:644
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Short stature, Hypergonadotropic hypogonadism, Short neck, Cubitus valgus, Azoospe... ORPHA:2183
Developmental And Epileptic Encephalopathy 40
Small for gestational age, Myoclonus, Choreoathetosis, Spasticity, Spastic tetraparesis, Intraute... OMIM:617065
Parastremmatic Dwarfism
Kyphosis, Severe short stature, Short neck, Scoliosis, Genu valgum OMIM:168400
Nasu-Hakola Disease
Hydrocephalus, Chorea, Disinhibition, Ventriculomegaly, Spasticity, Oculomotor apraxia, Irritability ORPHA:2770
L1 Syndrome
Hydrocephalus, Hemiplegia/hemiparesis, Aqueductal stenosis, Depression, Gait disturbance, Spasticity ORPHA:275543
Spinocerebellar Ataxia 2
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Impai... OMIM:183090
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia, Short stature ORPHA:1144
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Ataxia, Dysmetria, Limb ataxia, Scoliosis, Gait ataxia, Spasticity OMIM:610743
Mosaic Trisomy 1
Thoracic scoliosis, Macrocephaly, Camptodactyly of finger, Knee joint hypermobility, Lateral vent... ORPHA:1692
Optic Atrophy 11
Ataxia, Macrocephaly, Dysmetria, Short stature, Microcephaly, Hyperkinetic movements OMIM:617302
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Bradykinesia, Irritability, Myoclonus, Babinski sign, Parkinsonism, Rigidity, Gait ataxia... ORPHA:101150
Pontocerebellar Hypoplasia, Type 2E
Hypertonia, Failure to thrive, Opisthotonus, Short stature, Microcephaly, Myoclonus, Scoliosis, V... OMIM:615851
Combined Saposin Deficiency
Myoclonus, Babinski sign, Hyperkinetic movements, Fasciculations OMIM:611721
Salt And Pepper Developmental Regression Syndrome
Failure to thrive, Myoclonus, Microcephaly, Choreoathetosis, Irritability OMIM:609056
Selective Igm Deficiency
Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Chronic sinusitis, Recurrent cutane... ORPHA:331235
Tenorio Syndrome
Apnea, Hydrocephalus, Macrocephaly, Clumsiness, Delayed cranial suture closure, Cerebral palsy, A... OMIM:616260
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Apathy, Progressive cerebellar ataxia, Autonomic erectile dysfunction, Limb ata... ORPHA:227510
Dystonia 12
Torticollis, Bradykinesia, Depression, Anxiety, Parkinsonism, Tremor, Unsteady gait, Emotional la... OMIM:128235
Spinocerebellar Ataxia Type 2
Progressive cerebellar ataxia, Parkinsonism, Fasciculations, Chorea, Kinetic tremor, Abnormal sub... ORPHA:98756
Valinemia
Failure to thrive, Hyperkinetic movements OMIM:277100
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Temple Syndrome
Hydrocephalus, Relative macrocephaly, Short stature, Small for gestational age, Scoliosis, Postna... ORPHA:254516
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia ORPHA:2589
Caribbean Parkinsonism
Action tremor, Bradykinesia, Myoclonus, Parkinsonism, Rigidity, Weakness due to upper motor neuro... ORPHA:97355
Wolfram-Like Syndrome
Progressive cerebellar ataxia, Depression, Severe postnatal growth retardation, Respiratory insuf... ORPHA:411590
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Macrocephaly, Spastic tetraplegia, Kyphoscoliosis OMIM:300886
Multiple System Atrophy, Parkinsonian Type
Apathy, Progressive cerebellar ataxia, Autonomic erectile dysfunction, Bradykinesia, Central slee... ORPHA:98933
Phosphoserine Aminotransferase Deficiency
Apnea, Hypertonia, Myoclonus, Secondary microcephaly, Decreased CSF serine concentration OMIM:610992
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Bradykinesia, Anxiety, Parkinsonism, Inappropriate behavior, Falls, Shuffling gait, Inert... ORPHA:412066
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Depression, Anxiety, Parkinsonism, Chorea, Athetosis, Motor tics OMIM:615483
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Ataxia, Short stature, Microcephaly, Scoliosis, Difficulty walking, Progressive spastic... ORPHA:464282
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Depression, Myoclonus, Rigidity, Hyperkinetic mov... ORPHA:13
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Ataxia, Scoliosis, Gait disturbance, Tremor, Impaired pain sensation ORPHA:101075
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Macrocephaly, Cachexia, Exertional dyspnea, Lethargy ORPHA:42
Xfe Progeroid Syndrome
Failure to thrive, Severe short stature, Poor coordination, Cachexia, Microcephaly, Scoliosis, Ve... OMIM:610965
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Fasciculations OMIM:613728
Pulmonary Blastoma
Dyspnea, Weight loss, Recurrent pneumonia, Cough ORPHA:64741
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Abnormal cerebellum morphology, Dilated fourth ventricle, Hypoplasia of the pons, ... ORPHA:370959
Ichthyosis Prematurity Syndrome
Erythroderma, Asthma, Neonatal asphyxia, Allergic rhinitis OMIM:608649
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Kyphosis, Hydrocephalus, Shoulder dislocation, Scoliosis, Gait disturbance ORPHA:2181
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Macrocephaly, Self-injurious behavior, Anxiety, Aggressive behavior, Skin-picking OMIM:618512
Joubert Syndrome With Renal Defect
Apnea, Hydrocephalus, Ataxia, Oculomotor apraxia, Scoliosis, Gait disturbance, Tremor, Abnormal p... ORPHA:220497
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Emotional lability, Myoclonus, Babinski sign,... ORPHA:254343
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Microcephaly, Babinski sign, Abnormal pyramidal sign, Spasticity, Secondary microc... OMIM:615599
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Respiratory insufficiency, Microcephaly, Babinski sign, Spasticity OMIM:618186
Intellectual Developmental Disorder, Autosomal Dominant 35
Hydrocephalus, Macrocephaly, Congenital hip dislocation, Scoliosis, Gait ataxia, Ventriculomegaly... OMIM:616355
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Motor stereotypy, Craniosynostosis, Microcephaly, Anxiety, Scoliosis, Spastic ataxia OMIM:618906
Joubert Syndrome 30
Apnea, Superior cerebellar dysplasia, Tachypnea, Ventriculomegaly, Cerebellar atrophy, Molar toot... OMIM:617622
Mental Retardation, Buenos Aires Type
Failure to thrive, Hydrocephalus, Microcephaly, Partial agenesis of the corpus callosum, Spastic ... OMIM:249630
Scheie Syndrome
Rhinitis, Splenomegaly ORPHA:93474
Joubert Syndrome 31
Oculomotor apraxia, Truncal ataxia, Molar tooth sign on MRI, Ventriculomegaly OMIM:617761
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Hemiplegia/hemiparesis, Aqueductal stenosis, Holoprosencephaly, Spasticity, Agenes... ORPHA:2182
Biemond Syndrome Type 2
Hydrocephalus, Short stature, Hypogonadotropic hypogonadism, Delayed puberty, Hypogonadism, Obesity ORPHA:141333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Hypoplasia of the pons, Cerebellar hypoplasia, Cerebellar dysplasia, Cerebellar cy... OMIM:615181
Huntington Disease-Like 2
Parkinsonism, Chorea, Gait disturbance, Involuntary movements, Weight loss ORPHA:98934
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Happy demeanor, Ataxia, Inability to walk, Impulsivity, Apnea, Recurrent hand f... OMIM:619580
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Dysmetria, Myoclonus, Abnormality of the vertebral column, Abnormal vertebral morphology,... OMIM:250620
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Myoclonus, Scoliosis, Fasciculations, Frequent falls, Tremor, Difficulty walking, Tongue fascicul... OMIM:159950
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Inability to walk, Myoclonus, Scoliosis, Hyperkinetic movements, Chorea... OMIM:619317
Lissencephaly 5
Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia, Occipital encephal... OMIM:615191
48,Xxyy Syndrome
Motor stereotypy, Infertility, Ataxia, Apnea, Asthma, Hypergonadotropic hypogonadism, Depression,... ORPHA:10
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Gait ataxia, Emotio... ORPHA:71517
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Intrauterine growth retardation, Delayed cranial suture closure, Microcepha... ORPHA:1832
Lennox-Gastaut Syndrome
Myoclonus, Abnormal brainstem morphology, Falls, Aggressive behavior, Personality disorder ORPHA:2382
Microtriplication 11Q24.1
Joint dislocation, Short stature, Microcephaly, Short neck, Scoliosis, Hyperkinetic movements, Ge... ORPHA:289522
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Respiratory insufficiency, Abnormal brainstem MRI signal intensity ORPHA:263410
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Short ... OMIM:271530
Silver-Russell Syndrome
Relative macrocephaly, Short stature, Delayed cranial suture closure, Cachexia, Scoliosis, Obesit... ORPHA:813
Microsporidiosis
Keratitis, Pancreatitis, Lymphadenitis, Myocarditis, Pneumonia, Rhinitis, Prostatitis, Osteomyeli... ORPHA:2552
Familial Cold Autoinflammatory Syndrome 3
Asthma, Recurrent otitis media, Allergic rhinitis, Hashimoto thyroiditis OMIM:614468
Joubert Syndrome 7
Ataxia, Episodic tachypnea, Scoliosis, Tachypnea, Central apnea, Genu valgum, Neonatal breathing ... OMIM:611560
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Macrocephaly, Joint contracture of the hand, Craniosynostosis, Delayed cranial sut... OMIM:175700
Craniotelencephalic Dysplasia
Hydrocephalus, Craniosynostosis, Microcephaly, Agenesis of corpus callosum, Arrhinencephaly, Fron... ORPHA:1528
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Shashi-Pena Syndrome
Kyphosis, Macrocephaly, Scoliosis, Ventriculomegaly OMIM:617190
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age, Congenital bilateral hip dislocation, Short stature ORPHA:85288
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Microcephaly, Myoclonus, Hypoplasia of the pons, Spasticity, Respiratory failure, Hyp... OMIM:225753
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Eczema, Chronic sinusitis, Bone marrow hypocellulari... ORPHA:443811
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Unilambdoid synostosis, Scoliosis, Ulnar deviation of the wrist, Ventriculomegaly,... OMIM:618577
Geniospasm 1
Chin myoclonus, Anxiety OMIM:190100
Corpus Callosum Agenesis-Neuronopathy Syndrome
Hemiplegia/hemiparesis, Aqueductal stenosis, Craniosynostosis, Microcephaly, Agenesis of corpus c... ORPHA:1496
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent otitis media, Asthma, Viral hepatitis, Skin rash, Rheumatoid arthrit... ORPHA:183675
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Joubert Syndrome With Ocular Defect
Apnea, Hydrocephalus, Ataxia, Oculomotor apraxia, Scoliosis, Gait disturbance, Tremor, Abnormal v... ORPHA:220493
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainstem ORPHA:250972
Papillary Tumor Of The Pineal Region
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia ORPHA:251915
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Tip-toe gait, Dysmetria, Short stature, Intention tremor, Microce... ORPHA:397946
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Fasciculations ORPHA:85162
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Abnormal brainstem morphology, ... ORPHA:370022
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Depression, Myoclo... ORPHA:314632
Medulloblastoma
Hydrocephalus, Ataxia, Progressive cerebellar ataxia, Back pain, Dysmetria, Intention tremor, Del... ORPHA:616
Immunodeficiency 58
Asthma, Colitis, Chronic pulmonary obstruction, Eczema, Recurrent upper respiratory tract infecti... OMIM:618131
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Ataxia, Short stature, Cachexia, Microcephaly, Spasticity ORPHA:220295
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Erratic myoclonus, Ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem, Recurrent asp... OMIM:619971
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Short stature, Depression, Scoliosis, Obesity, Bipolar affective disorder ORPHA:276630
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Craniosynostosis ORPHA:380
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Cachexia, Short stature ORPHA:1389
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Impulsivity, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait OMIM:619028
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Ataxia, Scoliosis, Gait disturbance, Tremor, Impaired pain sensation ORPHA:101078
Classic Galactosemia
Gait imbalance, Ataxia, Action tremor, Clumsiness, Depression, Oligomenorrhea, Anxiety, Primary a... ORPHA:79239
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Schwartz-Jampel Syndrome
Apnea, Abnormally ossified vertebrae, Short neck, Platyspondyly, Genu valgum, Elbow dislocation, ... ORPHA:800
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Macrocephaly, Scoliosis, Truncal obesity, Gait disturbance, Spasticity ORPHA:2429
Renpenning Syndrome
Growth delay, Microcephaly, Severe short stature, Cachexia ORPHA:3242
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Amenorrhea, Ataxia, Depression, Anxiety, Difficulty walking, Premature ovarian insufficiency OMIM:619425
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Wide anterior fontanel, Hydrocephalus, Lumbar hyperlordosis, Sleep apnea, Severe short ... OMIM:616482
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Failure to thrive, Spastic tetraplegia, Intrauterine growth retardation, Irritability OMIM:618237
Metatropic Dysplasia
Kyphosis, Hydrocephalus, Severe short stature, Camptodactyly of finger, Scoliosis, Abnormal form ... ORPHA:2635
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Pontocerebellar Hypoplasia, Type 7
Apnea, Hydrocephalus, Ataxia, Hypertonia, Opisthotonus, Myoclonus, Hypoplasia of the pons, Spasti... OMIM:614969
H Syndrome
Histiocytosis, Hydrocephalus, Hepatosplenomegaly, Chronic rhinitis, Microcytic anemia, Recurrent ... ORPHA:168569
Pontocerebellar Hypoplasia, Type 1E
Myoclonus, Hypoplasia of the pons, Respiratory failure requiring assisted ventilation, Elbow flex... OMIM:619303
Chorea, Benign Hereditary
Gait disturbance, Anxiety, Chorea OMIM:118700
Intellectual Developmental Disorder, Autosomal Recessive 41
Motor stereotypy, Macrocephaly, Self-injurious behavior, Anxiety, Recurrent pneumonia, Ventriculo... OMIM:615637
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Cervical platyspondyly, Colpocephaly, Scoliosis OMIM:618731
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Apathy, Myoclonus, Babinski sign, Rigidity, Inappropriate behavior, Gait distur... OMIM:600795
Peho-Like Syndrome
Progressive microcephaly, Myoclonus, Ventriculomegaly OMIM:617507
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Increased CSF protein, P... ORPHA:298
Thanatophoric Dysplasia
Kyphosis, Hydrocephalus, Macrocephaly, Intrauterine growth retardation, Disproportionate short-li... ORPHA:2655
Hyperphenylalaninemia, Bh4-Deficient, B
Irritability, Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Lethargy OMIM:233910
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Gait disturbance, Tremor, Impaired distal vibration sensation,... ORPHA:276435
Epilepsy, Progressive Myoclonic, 11
Intention tremor, Ataxia, Rigidity, Myoclonus OMIM:618876
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Ataxia, Action tremor, Poor coordination, Anxiety, Scoliosis OMIM:617665
Isolated Succinate-Coq Reductase Deficiency
Loss of ambulation, Ataxia, Severe short stature, Spastic paraparesis, Babinski sign, Mild microc... ORPHA:3208
Methylcobalamin Deficiency Type Cble
Failure to thrive, Hydrocephalus, Microcephaly, Scoliosis, Ventriculomegaly, Lower limb hypertoni... ORPHA:2169
Alazami Syndrome
Decreased body weight, Severe short stature, Microcephaly, Anxiety, Scoliosis OMIM:615071
Lopes-Maciel-Rodan Syndrome
Kyphosis, Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Scoliosis, Tremor, Spa... OMIM:617435
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Cole-Carpenter Syndrome 2
Kyphosis, Hydrocephalus, Macrocephaly, Short stature, Coronal craniosynostosis, Platyspondyly, Wo... OMIM:616294
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Depression, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor,... OMIM:137440
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Dysmetria, Spastic paraparesis, Depression, Dysdiadochokinesis, Anxiety, Ba... OMIM:615157
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Depression, Ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:204300
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Hyperlor... ORPHA:40
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Camptodactyly of finger, Gait disturbance, Abnormality of the wrist, Wrist swelling, Ca... ORPHA:2774
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Myoclonus, Chorea, Gait disturbance, Involuntary movements, Spasticity OMIM:617282
Halperin-Birk Syndrome
Intrauterine growth retardation, Hypertonia, Inability to walk, Pseudobulbar paralysis, Failure t... OMIM:618651
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Myoclonus, Babinski sign, Akinetic mutism, Abnormal pyramidal sign, Respiratory failure r... ORPHA:204
Joubert Syndrome 9
Apnea, Episodic tachypnea, Scoliosis, Ventriculomegaly, Oculomotor apraxia, Encephalocele, Molar ... OMIM:612285
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Macrocephaly, Short stature, Abnormality of the vertebral column, Ventriculomegaly... OMIM:109120
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Severe short stature, Small for gestational age, Aspiration pneu... OMIM:619057
Eosinophilic Gastroenteritis
Asthma, Leukocytosis, Atopic dermatitis, Eosinophilia, Allergic rhinitis, Anemia ORPHA:2070
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Familial Infantile Bilateral Striatal Necrosis
Hypertonia, Loss of ambulation, Ataxia, Failure to thrive, Myoclonus, Babinski sign, Rigidity, Te... ORPHA:225154
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Short stature, Microcephaly, Scoliosis, Hip dislocation OMIM:300434
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Macrocephaly, Dilated fourth ventricle, Truncal ataxia, Dandy-Walker malformation OMIM:220220
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Macrocephaly, Short stature, Anxiety, Gait disturbance, Ventriculomegaly OMIM:609757
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Increased CSF lactate, Myoclonus, Scoliosis, Hypoplasia of the pons, Vocal cord paralysis, Partia... ORPHA:500144
Developmental And Epileptic Encephalopathy 1
Growth delay, Hypertonia, Erratic myoclonus, Microcephaly, Abnormal pyramidal sign, Choreoathetos... OMIM:308350
Combined Oxidative Phosphorylation Deficiency 14
Microcephaly, Myoclonus, Atrophy/Degeneration affecting the brainstem, Ventriculomegaly, Growth d... OMIM:614946
Hurler Syndrome
Hydrocephalus, Splenomegaly, Depressed nasal bridge, Anteverted nares, Rhinitis, Wide nasal bridge ORPHA:93473
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Kyphosis, Hypertonia, Joint contracture of the hand, Short stature, Small for g... ORPHA:352490
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Spasticity, Secondary microcephaly ORPHA:397951
17P11.2 Microduplication Syndrome
Sleep apnea, Failure to thrive, Poor fine motor coordination, Short stature, Microcephaly, Anxiet... ORPHA:1713
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Hydrocephalus, Aggressive behavior, Self-mutilation OMIM:616521
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis OMIM:125370
1Q44 Microdeletion Syndrome
Hydrocephalus, Short stature, Prominent metopic ridge, Microcephaly, Scoliosis, Ventriculomegaly,... ORPHA:238769
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Somatic sensory dysfunct... ORPHA:98763
Fragile X Tremor/Ataxia Syndrome
Impotence, Bradykinesia, Action tremor, Dysmetria, Resting tremor, Depression, Intention tremor, ... OMIM:300623
Thanatophoric Dysplasia Type 2
Kyphosis, Hydrocephalus, Macrocephaly, Holoprosencephaly, Short stature, Respiratory insufficienc... ORPHA:93274
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Lateral ventricle dilatation, Primary microcephaly ORPHA:293725
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Ataxia, Opisthotonus, Inspiratory stridor, Spina bifida, Agenesi... OMIM:207950
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Apathy, Progressive cerebellar ataxia, Depression, Babinski sign, Parkinsonism, Weak... ORPHA:275872
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, Myoclonus, Scoliosis, Tremor, Difficulty walking OMIM:614018
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Rigidity OMIM:605909
Autosomal Recessive Spastic Paraplegia Type 48
Broad-based gait, Ataxia, Myoclonus, Parkinsonism, Progressive spastic paraplegia, Abnormality of... ORPHA:306511
Dystonia 28, Childhood-Onset
Torticollis, Tip-toe gait, Short stature, Retrocollis, Microcephaly, Myoclonus, Gait disturbance,... OMIM:617284
Childhood-Onset Spasticity With Hyperglycinemia
Hypertonia, Ataxia, Spastic diplegia, Myoclonus, Babinski sign, Spastic dysarthria, Progressive s... ORPHA:401866
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Anxiety, Myoclonus, Chorea, Choreoathetosis, Involuntary movemen... OMIM:606703
Joubert Syndrome 2
Elongated superior cerebellar peduncle, Failure to thrive, Hydrocephalus, Ataxia, Macrocephaly, E... OMIM:608091
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Potocki-Shaffer syndrome
Delayed cranial suture closure DECIPHER:34
Congenital Toxoplasmosis
Hydrocephalus, Microcephaly, Ventriculomegaly, Intrauterine growth retardation, Failure to thrive... ORPHA:858
Machado-Joseph Disease
Ataxia, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Impaired vibratory sensation, B... OMIM:109150
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus OMIM:208700
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Rahman Syndrome
Hypertonia, Kyphoscoliosis, Macrocephaly, Anxiety, Ventriculomegaly OMIM:617537
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Microcephaly, Scoliosis, Hypoplasia of the pons, Spina bifida occulta, Bicoronal synostosis, Dela... OMIM:618736
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Sc... ORPHA:391411
Duplication Of The Pituitary Gland
Thoracic scoliosis, Decreased body weight, Self-mutilation, Short stature, Microcephaly, Short ne... ORPHA:314621
Pontocerebellar Hypoplasia Type 10
Growth delay, Abnormal brainstem morphology ORPHA:411493
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Ataxia, Upper motor neuron dysfunction, Clumsiness, Dysmetria, Impaired vibratory sensa... ORPHA:88644
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Ataxia, Prominent metopic ridge, Scoliosis, Gait disturbance ORPHA:85317
Ceroid Lipofuscinosis, Neuronal, 3
Loss of ambulation, Myoclonus, Anxiety, Parkinsonism, Abnormality of extrapyramidal motor function OMIM:204200
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis ORPHA:90368
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Short neck, Scoliosis, Hyperlordosis, Frequent falls, Respiratory insu... OMIM:300718
Continuous Spikes And Waves During Sleep
Speech apraxia, Clumsiness, Hyperkinetic movements, Aggressive behavior ORPHA:725
Lujo Hemorrhagic Fever
Respiratory distress, Lymphopenia, Rhinitis, Leukocytosis, Skin rash, Nonproductive cough, Maculo... ORPHA:319213
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Bradykinesia, Limb ataxia, Atrophy/Degeneration affecting the brainstem, Limb myoclo... OMIM:619862
Marinesco-Sjogren Syndrome
Kyphosis, Ataxia, Failure to thrive, Limb ataxia, Short stature, Hypergonadotropic hypogonadism, ... OMIM:248800
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Ataxia, Bradykinesia, Impaired vibration sensation in the lower limbs, Depression, R... ORPHA:98808
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Distal 7Q11.23 Microduplication Syndrome