| 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 |
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Hydrocephalus, Macrocephaly, Short stature, Abnormality of the vertebral column, Ventriculomegaly... |
OMIM:109120 |
| Combined Oxidative Phosphorylation Deficiency 51 |
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Intrauterine growth retardation, Severe short stature, Small for gestational age, Aspiration pneu... |
OMIM:619057 |
| Eosinophilic Gastroenteritis |
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Asthma, Leukocytosis, Atopic dermatitis, Eosinophilia, Allergic rhinitis, Anemia |
ORPHA:2070 |
| Acalvaria |
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Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
| Familial Infantile Bilateral Striatal Necrosis |
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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 |
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Kyphosis, Short stature, Microcephaly, Scoliosis, Hip dislocation |
OMIM:300434 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
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Hydrocephalus, Macrocephaly, Dilated fourth ventricle, Truncal ataxia, Dandy-Walker malformation |
OMIM:220220 |
| Williams-Beuren Region Duplication Syndrome |
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Hydrocephalus, Macrocephaly, Short stature, Anxiety, Gait disturbance, Ventriculomegaly |
OMIM:609757 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
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Increased CSF lactate, Myoclonus, Scoliosis, Hypoplasia of the pons, Vocal cord paralysis, Partia... |
ORPHA:500144 |
| Developmental And Epileptic Encephalopathy 1 |
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Growth delay, Hypertonia, Erratic myoclonus, Microcephaly, Abnormal pyramidal sign, Choreoathetos... |
OMIM:308350 |
| Combined Oxidative Phosphorylation Deficiency 14 |
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Microcephaly, Myoclonus, Atrophy/Degeneration affecting the brainstem, Ventriculomegaly, Growth d... |
OMIM:614946 |
| Hurler Syndrome |
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Hydrocephalus, Splenomegaly, Depressed nasal bridge, Anteverted nares, Rhinitis, Wide nasal bridge |
ORPHA:93473 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
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Motor stereotypy, Kyphosis, Hypertonia, Joint contracture of the hand, Short stature, Small for g... |
ORPHA:352490 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
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Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Spasticity, Secondary microcephaly |
ORPHA:397951 |
| 17P11.2 Microduplication Syndrome |
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Sleep apnea, Failure to thrive, Poor fine motor coordination, Short stature, Microcephaly, Anxiet... |
ORPHA:1713 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
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Obesity, Hydrocephalus, Aggressive behavior, Self-mutilation |
OMIM:616521 |
| Dentatorubral-Pallidoluysian Atrophy |
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Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis |
OMIM:125370 |
| 1Q44 Microdeletion Syndrome |
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Hydrocephalus, Short stature, Prominent metopic ridge, Microcephaly, Scoliosis, Ventriculomegaly,... |
ORPHA:238769 |
| Spinocerebellar Ataxia Type 14 |
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Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Somatic sensory dysfunct... |
ORPHA:98763 |
| Fragile X Tremor/Ataxia Syndrome |
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Impotence, Bradykinesia, Action tremor, Dysmetria, Resting tremor, Depression, Intention tremor, ... |
OMIM:300623 |
| Thanatophoric Dysplasia Type 2 |
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Kyphosis, Hydrocephalus, Macrocephaly, Holoprosencephaly, Short stature, Respiratory insufficienc... |
ORPHA:93274 |
| Hydrocephalus, Congenital Communicating, 1 |
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Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
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Choroid plexus cyst, Lateral ventricle dilatation, Primary microcephaly |
ORPHA:293725 |
| Chiari Malformation Type Ii |
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Myelomeningocele, Hydrocephalus, Ataxia, Opisthotonus, Inspiratory stridor, Spina bifida, Agenesi... |
OMIM:207950 |
| Spermatogenic Failure 43 |
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Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
| Spermatogenic Failure 49 |
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Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
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Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
| Frontotemporal Dementia With Motor Neuron Disease |
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Paraparesis, Apathy, Progressive cerebellar ataxia, Depression, Babinski sign, Parkinsonism, Weak... |
ORPHA:275872 |
| Epilepsy, Progressive Myoclonic, 6 |
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Loss of ambulation, Ataxia, Myoclonus, Scoliosis, Tremor, Difficulty walking |
OMIM:614018 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
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Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Rigidity |
OMIM:605909 |
| Autosomal Recessive Spastic Paraplegia Type 48 |
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Broad-based gait, Ataxia, Myoclonus, Parkinsonism, Progressive spastic paraplegia, Abnormality of... |
ORPHA:306511 |
| Dystonia 28, Childhood-Onset |
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Torticollis, Tip-toe gait, Short stature, Retrocollis, Microcephaly, Myoclonus, Gait disturbance,... |
OMIM:617284 |
| Childhood-Onset Spasticity With Hyperglycinemia |
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Hypertonia, Ataxia, Spastic diplegia, Myoclonus, Babinski sign, Spastic dysarthria, Progressive s... |
ORPHA:401866 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
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Resting tremor, Limb hypertonia, Anxiety, Myoclonus, Chorea, Choreoathetosis, Involuntary movemen... |
OMIM:606703 |
| Joubert Syndrome 2 |
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Elongated superior cerebellar peduncle, Failure to thrive, Hydrocephalus, Ataxia, Macrocephaly, E... |
OMIM:608091 |
| Myoclonus, Cerebellar Ataxia, And Deafness |
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Ataxia, Myoclonus |
OMIM:159800 |
| Potocki-Shaffer syndrome |
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Delayed cranial suture closure |
DECIPHER:34 |
| Congenital Toxoplasmosis |
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Hydrocephalus, Microcephaly, Ventriculomegaly, Intrauterine growth retardation, Failure to thrive... |
ORPHA:858 |
| Machado-Joseph Disease |
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Ataxia, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Impaired vibratory sensation, B... |
OMIM:109150 |
| Ataxia With Myoclonic Epilepsy And Presenile Dementia |
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Ataxia, Myoclonus |
OMIM:208700 |
| Spermatogenic Failure, X-Linked, 3 |
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Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
| Rahman Syndrome |
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Hypertonia, Kyphoscoliosis, Macrocephaly, Anxiety, Ventriculomegaly |
OMIM:617537 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
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Microcephaly, Scoliosis, Hypoplasia of the pons, Spina bifida occulta, Bicoronal synostosis, Dela... |
OMIM:618736 |
| Atypical Juvenile Parkinsonism |
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Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Sc... |
ORPHA:391411 |
| Duplication Of The Pituitary Gland |
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Thoracic scoliosis, Decreased body weight, Self-mutilation, Short stature, Microcephaly, Short ne... |
ORPHA:314621 |
| Pontocerebellar Hypoplasia Type 10 |
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Growth delay, Abnormal brainstem morphology |
ORPHA:411493 |
| Autosomal Recessive Ataxia, Beauce Type |
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Kyphosis, Ataxia, Upper motor neuron dysfunction, Clumsiness, Dysmetria, Impaired vibratory sensa... |
ORPHA:88644 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
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Kyphosis, Ataxia, Prominent metopic ridge, Scoliosis, Gait disturbance |
ORPHA:85317 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
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Loss of ambulation, Myoclonus, Anxiety, Parkinsonism, Abnormality of extrapyramidal motor function |
OMIM:204200 |
| Hypotrichosis Simplex Of The Scalp |
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Allergic rhinitis, Atopic dermatitis |
ORPHA:90368 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
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Kyphosis, Spinal rigidity, Short neck, Scoliosis, Hyperlordosis, Frequent falls, Respiratory insu... |
OMIM:300718 |
| Continuous Spikes And Waves During Sleep |
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Speech apraxia, Clumsiness, Hyperkinetic movements, Aggressive behavior |
ORPHA:725 |
| Lujo Hemorrhagic Fever |
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Respiratory distress, Lymphopenia, Rhinitis, Leukocytosis, Skin rash, Nonproductive cough, Maculo... |
ORPHA:319213 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
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Torticollis, Bradykinesia, Limb ataxia, Atrophy/Degeneration affecting the brainstem, Limb myoclo... |
OMIM:619862 |
| Marinesco-Sjogren Syndrome |
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Kyphosis, Ataxia, Failure to thrive, Limb ataxia, Short stature, Hypergonadotropic hypogonadism, ... |
OMIM:248800 |
| Autosomal Dominant Dopa-Responsive Dystonia |
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Torticollis, Ataxia, Bradykinesia, Impaired vibration sensation in the lower limbs, Depression, R... |
ORPHA:98808 |
| Spermatogenic Failure 54 |
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Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
| Distal 7Q11.23 Microduplication Syndrome |
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