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