| Atypical Teratoid Rhabdoid Tumor |
|
Cerebral palsy, Apathy, Ataxia, Irritability, Hydrocephalus, Macrocephaly, Cerebral calcification... |
ORPHA:99966 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Dystonia, Cerebral cortical hemiatrophy, Bradykinesia, Hemiparesis, Tremor, Depress... |
ORPHA:306669 |
| Ciliary Dyskinesia, Primary, 11 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Short stature, Chronic rhiniti... |
OMIM:612649 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal vertebral morphology, Abnormal corpus callosum morphology, Ventriculomegaly, Stereotypy,... |
OMIM:618709 |
| Ciliary Dyskinesia, Primary, 6 |
|
Sinusitis, Abnormal respiratory motile cilium morphology, Absent/shortened outer dynein arms, Cil... |
OMIM:610852 |
| Ciliary Dyskinesia With Excessively Long Cilia |
|
Sinusitis, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Chronic rhinitis, I... |
OMIM:242680 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Oromotor apraxia, Perisylvian polymicrogyria, Schizencephaly, Hypoplasia of the pons, Dysgenesis ... |
ORPHA:300573 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Ciliary Dyskinesia, Primary, 16 |
|
Pulmonary insufficiency, Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Absent outer dynei... |
OMIM:614017 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Ankle flexion contracture, Failure to thrive in infancy, Inappropriate crying, Cerebral white mat... |
ORPHA:284417 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Ciliary Dyskinesia, Primary, 32 |
|
Immotile cilia, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis |
OMIM:616481 |
| Cach Syndrome |
|
Secondary amenorrhea, Atrophy/Degeneration affecting the brainstem, Apathy, Irritability, Prematu... |
ORPHA:135 |
| Masa Syndrome |
|
Short stature, Paraplegia, Shuffling gait, Lower limb spasticity, Ventriculomegaly, Kyphosis, Mac... |
OMIM:303350 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia |
OMIM:215520 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Dystonia, Short stature, Self-injurious behavior, Chorea, Bilateral generalized polymicrogyria, L... |
ORPHA:178469 |
| Ciliary Dyskinesia, Primary, 18 |
|
Respiratory insufficiency, Ciliary dyskinesia, Rhinitis, Respiratory insufficiency due to defecti... |
OMIM:614874 |
| Martsolf Syndrome 2 |
|
Short stature, Hypogonadotropic hypogonadism, Spastic diplegia, Camptodactyly of finger, Dilation... |
OMIM:619420 |
| Ciliary Dyskinesia, Primary, 7 |
|
Ciliary dyskinesia, Bronchiectasis, Reduced FEV1/FVC ratio, Abnormal ciliary motility, Recurrent ... |
OMIM:611884 |
| Ciliary Dyskinesia, Primary, 12 |
|
Ciliary dyskinesia, Bronchiectasis, Short stature, Chronic rhinitis, Chronic sinusitis, Abnormal ... |
OMIM:612650 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... |
OMIM:615294 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Abnormal respiratory system physiology, Ciliary dyskinesia, Chronic rhinitis, Absent r... |
OMIM:242670 |
| Bilateral Generalized Polymicrogyria |
|
Dystonia, Diffuse white matter abnormalities, Growth delay, Short stature, Self-injurious behavio... |
ORPHA:208447 |
| Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... |
OMIM:618695 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Dandy-Walker malformation, Delayed closure of the anterior fontanelle, Brachycephal... |
OMIM:618736 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Subcortical cerebral atrophy, Hydrocephalus, Cerebellar hypoplasia, Cerebral cortical hemiatrophy... |
ORPHA:2703 |
| Alexander Disease |
|
Progressive macrocephaly, Ataxia, Hydrocephalus, Spasticity, Increased CSF protein |
OMIM:203450 |
| Ciliary Dyskinesia, Primary, 23 |
|
Productive cough, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic rhin... |
OMIM:615451 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Dysgenesis of the hippocampus, Torticollis, Cubitus valgus, Spastic ataxia, Stereotypy, Postnatal... |
ORPHA:300570 |
| Ciliary Dyskinesia, Primary, 27 |
|
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insufficiency due to defecti... |
OMIM:615504 |
| Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Absent central microtubular pair... |
OMIM:617091 |
| Ciliary Dyskinesia, Primary, 14 |
|
Wheezing, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, R... |
OMIM:613807 |
| Ciliary Dyskinesia, Primary, 33 |
|
Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Recurrent otitis medi... |
OMIM:616726 |
| Ciliary Dyskinesia, Primary, 20 |
|
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615067 |
| Malan Overgrowth Syndrome |
|
Plagiocephaly, Ventriculomegaly, Frontal bossing, Scaphocephaly, Macrocephaly, Hypoplasia of the ... |
ORPHA:420179 |
| Ciliary Dyskinesia, Primary, 24 |
|
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Recurrent sinusitis |
OMIM:615481 |
| Ciliary Dyskinesia, Primary, 9 |
|
Ciliary dyskinesia, Pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent otitis media, Cough, R... |
OMIM:612444 |
| Ciliary Dyskinesia, Primary, 43 |
|
Productive cough, Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Chronic sinusi... |
OMIM:618699 |
| Juvenile Huntington Disease |
|
Dystonia, Neuronal loss in basal ganglia, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia,... |
ORPHA:248111 |
| Christianson Syndrome |
|
Dystonia, Cachexia, Conspicuously happy disposition, Inappropriate laughter, Stereotypy, Ventricu... |
ORPHA:85278 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Abnormal CSF pyruvate family amino acid concentration, Polymicrogy... |
ORPHA:79243 |
| Ciliary Dyskinesia, Primary, 26 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... |
OMIM:615500 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Inappropriate crying, Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem, Ton... |
ORPHA:77299 |
| Spinocerebellar Ataxia 48 |
|
Parkinsonism, Babinski sign, Cachexia, Dystonia, Dysmetria, Chorea, Tremor, Ataxia, Irritability,... |
OMIM:618093 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Dystonia, Self-injurious behavior, Chorea, Myoclonus, Inability to walk, Hyperkinetic movements, ... |
OMIM:614254 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Ciliary dyskinesia, Bronchiectasis, Recurrent pne... |
OMIM:619436 |
| Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
| Ciliary Dyskinesia, Primary, 10 |
|
Abnormal respiratory motile cilium morphology, Chronic sinusitis, Recurrent sinusitis, Ciliary dy... |
OMIM:612518 |
| Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasis |
OMIM:615872 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Megalencephaly, Ventriculomegaly, Macrocephaly, Polymicrogyria, Hydrocephalus |
OMIM:615938 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Ciliary Dyskinesia, Primary, 17 |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Bronchiectasis, Chronic rhinit... |
OMIM:614679 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Elbow flexion contracture, Aggressive behavior, Simplified gyral pattern, Stereotypy, Tremor, Spa... |
OMIM:619470 |
| Developmental And Epileptic Encephalopathy 56 |
|
Poor coordination, Ataxia, Broad-based gait, Anxiety, Attention deficit hyperactivity disorder, S... |
OMIM:617665 |
| Ciliary Dyskinesia, Primary, 5 |
|
Sinusitis, Ciliary dyskinesia, Recurrent bronchitis, Rhinitis, Bronchiectasis, Respiratory insuff... |
OMIM:608647 |
| Ciliary Dyskinesia, Primary, 28 |
|
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insufficiency due to defecti... |
OMIM:615505 |
| Foxg1 Syndrome |
|
Inappropriate crying, Abnormal respiratory system physiology, Short stature, Stereotypy, Decrease... |
ORPHA:561854 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Babinski sign, Scissor gait, Bradykinesia, Cogwheel rigidity, Resting tr... |
ORPHA:363654 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Atopic dermatitis, B lymphocytopenia, Sinusitis, Rhinitis, Recurrent upper and lower respiratory ... |
ORPHA:70593 |
| Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Cerebellar dysplasia, Ventri... |
OMIM:604213 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dandy-Walker malformation, Apneic episodes in infancy, Severe postnatal growth retardation, Small... |
ORPHA:3078 |
| Ciliary Dyskinesia, Primary, 15 |
|
Wheezing, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, R... |
OMIM:613808 |
| Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Chronic rhinitis, Absent inner and outer dynein arms, Bronchiectasis |
OMIM:618801 |
| Fried Syndrome |
|
Gait disturbance, Thickened calvaria, Aggressive behavior, Spastic diplegia, Hydrocephalus, Cereb... |
ORPHA:85335 |
| Holoprosencephaly 5 |
|
Lobar holoprosencephaly, Trigonocephaly, Holoprosencephaly, Syntelencephaly, Alobar holoprosencep... |
OMIM:609637 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hemimegalencephaly, Ventriculomegaly, Macrocephaly, Hydrocephalus, Polymicrogyria, Hypoplasia of ... |
OMIM:615937 |
| Ciliary Dyskinesia, Primary, 13 |
|
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Absent outer dynein arms, Absent inner dynein arms |
OMIM:613193 |
| Familial Nasal Acilia |
|
Abnormal respiratory motile cilium morphology, Bronchiectasis, Chronic rhinitis, Chronic sinusiti... |
ORPHA:922 |
| Ciliary Dyskinesia, Primary, 30 |
|
Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to d... |
OMIM:616037 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Limb hypertonia, Atrophy/Degeneration affecting the brainstem, Corpus callosum atrophy, Cerebral ... |
ORPHA:565624 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia, Hydrocephalus, Wide nasal bridge |
OMIM:209970 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia, Allergic rhinitis, Conjunctivitis |
ORPHA:26137 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Apnea, Macrocephaly, Hydrocephalus, Dilation of lateral ventricles, Agenesis of corpus callosum |
OMIM:300864 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia |
OMIM:225050 |
| Band Heterotopia |
|
Subcortical band heterotopia, Ventriculomegaly, Macrocephaly, Hydrocephalus, Polymicrogyria, Spas... |
OMIM:600348 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Gait disturbance, Kinetic tremor, Normal pressure hydrocephalus, Ventriculomegaly, Tremor, Macroc... |
OMIM:611808 |
| Unilateral Hemispheric Polymicrogyria |
|
Cerebral hypoplasia, Hemiparesis, Thick cerebral cortex, Dilation of lateral ventricles, Cortical... |
ORPHA:101071 |
| Ciliary Dyskinesia, Primary, 25 |
|
Sinusitis, Chronic pulmonary obstruction, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Rec... |
OMIM:615482 |
| Slc35A2-Cdg |
|
Short stature, Atrophy/Degeneration affecting the brainstem, Elevated circulating thyroid-stimula... |
ORPHA:356961 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired proprioception, Clonus, Failure to thrive, Upper limb hypertonia, Ventriculomegaly, Kyph... |
ORPHA:319199 |
| Ige Responsiveness, Atopic |
|
Eczema, Allergic rhinitis, Asthma |
OMIM:147050 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Pneumonia, Arthritis, Otitis media, T lymphocytopenia, Purulent rhinitis, Conj... |
OMIM:601457 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Limb hypertonia, Impaired pain sensation, Chorea, Aggressive behavior, Abnormality of e... |
ORPHA:500180 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Babinski sign, Gait disturbance, Upper limb spasticity, Lower limb spasticity, Kyphosis, Spastic ... |
OMIM:611225 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Anxiety, Scoliosis, Microcephaly, Myoclonus, Ventriculomegaly, Progressi... |
ORPHA:485350 |
| Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Bronchiectasis, Chronic otitis media, Rhinitis, Chronic sinusitis,... |
OMIM:618063 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Dandy-Walker malformation, Failure to thrive, Hypoplasia of the pons, Inability to walk, Hypoplas... |
OMIM:618606 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Poor gross motor coordination, Akinetic mutism, Cerebral palsy, Cerebral white matter atrophy, Ab... |
ORPHA:2148 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Dystonia, Short stature, Lower limb spasticity, Kyphosis, Hip dislocation, Ataxia, Waddling gait,... |
OMIM:616756 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Plagiocephaly, Aggressive behavior, Congenital hip dislocation, Abnormal corpus callosum morpholo... |
ORPHA:457279 |
| Sagliker Syndrome |
|
Short stature, Frontal bossing, Waddling gait, Anxiety, Depression |
ORPHA:300493 |
| Ciliary Dyskinesia, Primary, 19 |
|
Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insufficiency due to defective ciliary ... |
OMIM:614935 |
| Pineocytoma |
|
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia |
ORPHA:251912 |
| Eosinophilopenia |
|
Allergic rhinitis, Decreased eosinophil count |
OMIM:131430 |
| Riboflavin Transporter Deficiency |
|
Cachexia, Respiratory insufficiency, Aggressive behavior, Myoclonus, Hypogonadism, Tremor, Ataxia... |
ORPHA:97229 |
| Huntington Disease |
|
Clumsiness, Gait imbalance, Decreased body mass index, Apathy, Irritability, Cerebral atrophy, An... |
ORPHA:399 |
| Pettigrew Syndrome |
|
Dandy-Walker malformation, Choreoathetosis, Self-injurious behavior, Cerebral calcification, Vent... |
OMIM:304340 |
| Ciliary Dyskinesia, Primary, 3 |
|
Neonatal respiratory distress, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis |
OMIM:608644 |
| Achondroplasia |
|
Genu varum, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular distance, Meg... |
OMIM:100800 |
| Ciliary Dyskinesia, Primary, 35 |
|
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Cough, Nasal polyposis |
OMIM:617092 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Dystonia, Hypoplasia of the pons, Myoclonus, Cerebral cortical atrophy, Ventriculomegaly, Spastic... |
OMIM:617669 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Gait disturbance, Small for gestational age, Short stature, Increased body mass index, Truncal ob... |
OMIM:300957 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Pelizaeus-Merzbacher Disease |
|
Gait disturbance, Failure to thrive in infancy, Cachexia, Dystonia, Respiratory insufficiency, Sh... |
ORPHA:702 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Progressive spasticity, Parkinsonism, Gait disturbance, Hypothalamic atrophy, Hyperintensity of c... |
ORPHA:2822 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Asplenia, Pneumonia, Chronic otitis media, Chronic ... |
OMIM:244400 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, A... |
OMIM:607317 |
| Atypical Rett Syndrome |
|
Inappropriate crying, Episodic tachypnea, Panic attack, Gait disturbance, Abnormal pattern of res... |
ORPHA:3095 |
| Central Neurocytoma |
|
Babinski sign, Paresthesia, Ataxia, Hydrocephalus, Abnormal lateral ventricle morphology, Cerebra... |
ORPHA:73256 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Periventricular cysts, Abnormal CSF pyruvate family amino acid concentration, Abnormal corpus cal... |
ORPHA:255182 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Gait disturbance, Failure to thrive in infancy, Multifocal cerebral white matter abnormalities, G... |
ORPHA:488627 |
| Distal Monosomy 10Q |
|
Short stature, Postnatal growth retardation, Anxiety, Clonus, Frontal bossing, Hip dislocation, P... |
ORPHA:96148 |
| Ciliary Dyskinesia, Primary, 2 |
|
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Absent inner and outer dynein arms, Respiratory di... |
OMIM:606763 |
| Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
| Myoclonus-Dystonia Syndrome |
|
Dystonia, Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus, Personality d... |
ORPHA:36899 |
| Mental Retardation, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Stereotypy, Macrocephaly, Polymicrogyria, Dilation of lateral ventricle... |
OMIM:617751 |
| Xfe Progeroid Syndrome |
|
Cachexia, Poor coordination, Ventriculomegaly, Severe short stature, Scoliosis, Microcephaly |
OMIM:610965 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Short stature, Atrophy/Degeneration affecting the brainstem, Ventriculomegaly... |
OMIM:617862 |
| Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Cerebellar atrophy, Cerebral white matter hypoplasia, Lissencephaly, Ventriculomegaly, Pachygyria... |
OMIM:618730 |
| Baker-Gordon Syndrome |
|
Involuntary movements, Dystonia, Choreoathetosis, Self-injurious behavior, Stereotypy, Ataxia, In... |
OMIM:618218 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Involuntary movements, Athetosis, Dystonia, Self-injurious behavior, Chorea, Ventriculomegaly, Hy... |
OMIM:617493 |
| Persistent Idiopathic Facial Pain |
|
Paresthesia, Impaired pain sensation, Anxiety, Depression, Somatic sensory dysfunction |
ORPHA:398147 |
| Developmental And Epileptic Encephalopathy 69 |
|
Dystonia, Myoclonus, Spastic tetraplegia, Inability to walk, Macrocephaly, Hyperkinetic movements... |
OMIM:618285 |
| Creutzfeldt-Jakob Disease |
|
Myoclonus, Apathy, Extrapyramidal muscular rigidity, Hemiparesis, Irritability, Anxiety, Gait ata... |
OMIM:123400 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Plagiocephaly, Failure to thrive in infancy, Cachexia, Intrauterine growth retardation, Brachycep... |
OMIM:616801 |
| Ciliary Dyskinesia, Primary, 22 |
|
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insufficiency due to defecti... |
OMIM:615444 |
| Gómez-López-Hernández Syndrome |
|
Short stature, Brachycephaly, Impaired pain sensation, Abnormal brainstem morphology, Ataxia, Tur... |
ORPHA:1532 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Emotional... |
OMIM:615362 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Athetosis, Limb hypertonia, Cerebral white matter hypoplasia, Intrauterine growth retardation, Di... |
ORPHA:572798 |
| Developmental And Epileptic Encephalopathy 49 |
|
Dandy-Walker malformation, Myoclonus, Ventriculomegaly, Frontal bossing, Hydrocephalus, Spasticit... |
OMIM:617281 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Thin corpus callosum, Spasticit... |
OMIM:619517 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Hypertonia, Spasticity, Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Microc... |
OMIM:618890 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Short stature, Ventriculomegaly, Ataxia, Cerebral calcification, Microcephaly |
ORPHA:1933 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Cachexia, Weight loss, Slender build, Ataxia, Abnormal cerebral white matter morphology |
OMIM:613662 |
| Huntington Disease-Like 2 |
|
Involuntary movements, Gait disturbance, Dystonia, Abnormal corpus striatum morphology, Caudate a... |
ORPHA:98934 |
| Spermatogenic Failure 38 |
|
Oligospermia, Coiled sperm flagella, Tapered sperm head, Abnormal sperm head morphology, Absent s... |
OMIM:618433 |
| Hydrocephalus, Autosomal Dominant |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:123155 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Dandy-Walker malformation, Frontal bossing, Orbital craniosynostosis, Hydrocephalus, Dolichocephaly |
ORPHA:1538 |
| Ciliary Dyskinesia, Primary, 37 |
|
Wheezing, Goiter, Bronchiectasis, Chronic rhinitis, Rhinorrhea |
OMIM:617577 |
| Ciliary Dyskinesia, Primary, 40 |
|
Rhinitis, Cough |
OMIM:618300 |
| Polyrrhinia |
|
Dilation of lateral ventricles, Abnormal third ventricle morphology |
ORPHA:141091 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Dystonia, Choreoathetosis, Myoclonus, Inability to walk, Hyperkinetic movements, Cerebral atrophy... |
OMIM:618497 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Rhizomelia, Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Inappropriate behavior, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron... |
ORPHA:401901 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Cerebellar cyst, Respiratory insufficiency, Cerebellar dysplasia, Hypo... |
OMIM:613153 |
| Developmental And Epileptic Encephalopathy 36 |
|
Abnormality of extrapyramidal motor function, Hydrocephalus, Cerebral atrophy, Abnormal pyramidal... |
OMIM:300884 |
| Aicardi-Goutieres Syndrome 9 |
|
Dystonia, Intrauterine growth retardation, Cerebral calcification, Failure to thrive, Weight loss... |
OMIM:619487 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Oromandibular dystonia, Clonus, Opisthotonus, Hypertonia, Scoliosis, Microcephaly, Dystonia, Cach... |
ORPHA:300605 |
| Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Clonus, Respiratory insufficiency, Myoclonus, Apnea, Ventriculomegaly, Hypertonia, Secondary micr... |
OMIM:617290 |
| Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Myoclonus, Abnormality of extrapyramidal motor function, Leukoencephalopathy, Ataxia, Cerebral at... |
OMIM:204300 |
| Familial Alzheimer-Like Prion Disease |
|
Anxiety, Attention deficit hyperactivity disorder, Emotional lability, Depression |
ORPHA:280397 |
| 1Q21.1 Microduplication Syndrome |
|
Failure to thrive, Frontal bossing, Hip dislocation, Hypertonia, Macrocephaly, Hydrocephalus, Att... |
ORPHA:250994 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Multifocal cerebral white matter abnormalities, Apnea, Subependymal cysts, Frontal bossing, Macro... |
OMIM:600721 |
| Raynaud-Claes Syndrome |
|
Aggressive behavior, Lower limb spasticity, Depression, Progressive cerebellar ataxia, Cerebral a... |
OMIM:300114 |
| Felty Syndrome |
|
Sinusitis, Neutropenia, Pericarditis, Episcleritis, Synovitis, Lymphadenopathy, Chronic otitis me... |
ORPHA:47612 |
| Hsd10 Disease |
|
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Ventriculomegaly, Tremor, Ataxia, Focal w... |
ORPHA:391417 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Microcephaly |
OMIM:617244 |
| Methylmalonic Acidemia With Homocystinuria |
|
Gait disturbance, Failure to thrive, Hydrocephalus, Microcephaly, Lethargy |
ORPHA:26 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Kyphoscoliosis, Ventriculomegaly, Inability to walk, Spastic paraplegia, Cerebral hypoplasia, Hyp... |
OMIM:617977 |
| Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Short stature, Cerebral atrophy |
OMIM:616192 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory insufficiency due to muscle weakness, Congenital hip dislocation, Ventriculomegaly, K... |
OMIM:618291 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Short stature, Abnormal vertebral morphology, Genu valgum, Frontal bossing, Macrocephaly, Molar t... |
ORPHA:166024 |
| Rett Syndrome |
|
Dystonia, Cachexia, Short stature, Apnea, Kyphosis, Truncal ataxia, Spasticity, Secondary microce... |
OMIM:312750 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Plagiocephaly, Dilated third ventricle, Partial agenesis of the corpus callosum, Limb hypertonia,... |
OMIM:617296 |
| Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
| Glutaric Acidemia I |
|
Dystonia, Opisthotonus, Rigidity, Choreoathetosis, Failure to thrive, Spastic diplegia, Macroceph... |
OMIM:231670 |
| Developmental And Epileptic Encephalopathy 37 |
|
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Hyperkinetic movements, Spasticity, Cereb... |
OMIM:616981 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Impaired proprioception, Myoclonus, Fasciculations, Progressive cerebellar ataxia, Truncal ataxia... |
ORPHA:95434 |
| Glut1 Deficiency Syndrome 1 |
|
Paralysis, Babinski sign, Paroxysmal dystonia, Choreoathetosis, Myoclonus, Paroxysmal lethargy, H... |
OMIM:606777 |
| Dermatitis, Atopic |
|
Atopic dermatitis, Eczema, Allergic rhinitis, Recurrent skin infections, Asthma, Conjunctivitis |
OMIM:603165 |
| Arnold-Chiari Malformation Type Ii |
|
Apnea, Paraparesis, Hydrocephalus, Polymicrogyria, Anxiety, Somatic sensory dysfunction, Meningoc... |
ORPHA:1136 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Short stature, Brachycephaly, Self-injurious behavior, Aggressive behavior, Slender build, Myoclo... |
OMIM:300699 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Plagiocephaly, Cachexia, Intrauterine growth retardation, Obstructive sleep apnea, Short stature,... |
ORPHA:371364 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Choreoathetosis, Myoclonus, Tremor, Hypertonia, Irritability, Cerebral calcification, M... |
OMIM:261630 |
| Alg2-Cdg |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Hyperintensity of cerebral whi... |
ORPHA:79326 |
| Choreoacanthocytosis |
|
Self-injurious behavior, Oromandibular dystonia, Apathy, Phonic tics, Frontal cortical atrophy, I... |
ORPHA:2388 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Neurofibrillary tangles, Apathy, Lewy bodies, Repetitive compulsive behavior, Hyper... |
OMIM:607485 |
| Kohlschutter-Tonz Syndrome-Like |
|
Intrauterine growth retardation, Upper limb spasticity, Brachycephaly, Obesity, Myoclonus, Lower ... |
OMIM:619229 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus |
OMIM:616921 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Myoclonus, Scoliosis, Gait ataxia, Ventriculomegaly |
OMIM:616540 |
| Optic Atrophy 11 |
|
Short stature, Dysmetria, Leukoencephalopathy, Ataxia, Hyperactivity, Macrocephaly, Hyperkinetic ... |
OMIM:617302 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Inappropriate crying, Self-injurious behavior, Progressive microcephaly, Hyperkinetic movements, ... |
ORPHA:397933 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Intrauterine growth retardation, Paresthesia, Short stature, Dysmetria, Hypogonadotropic hypogona... |
ORPHA:48431 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Cachexia, Short stature, Obesity, Aggressive behavior, Cubitus valgus, Kyphosis, Hypogonadism, Tr... |
ORPHA:85293 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Postural tremor, Babinski sign, Impaired temperature sensation, Increased laxity of ankles, Pares... |
ORPHA:99947 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Inappropriate behavior, Abulia, Aggressive behavior, Apathy, Abnormality of ext... |
ORPHA:275864 |
| Hao-Fountain Syndrome |
|
Large fontanelles, Trigonocephaly, Aggressive behavior, Speech apraxia, Central sleep apnea, Apra... |
OMIM:616863 |
| Intellectual Developmental Disorder, X-Linked 63 |
|
Anxiety, Microcephaly |
OMIM:300387 |
| Moynahan Syndrome |
|
Hypogonadism, Cachexia, Short stature, Microcephaly |
ORPHA:2574 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Dilation of lateral ventricles, Respiratory insufficiency due to muscle weakness, Hypoplasia of t... |
OMIM:616816 |
| Lissencephaly 5 |
|
Subcortical band heterotopia, Cerebellar hemisphere hypoplasia, Leukoencephalopathy, Cerebellar v... |
OMIM:615191 |
| Infantile Krabbe Disease |
|
Increased head circumference, Cachexia, Hypointensity of cerebral white matter on MRI, Opisthoton... |
ORPHA:206436 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Self-injurious behavior, Cerebral palsy, Aggressive behavior, Stereotypy, Hypertonia, Joint contr... |
OMIM:618914 |
| Alg13-Cdg |
|
Clumsiness, Decreased body weight, Abnormal lateral ventricle morphology |
ORPHA:324422 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear/anxiety-related behavior, Pseudobulbar paralysis, Suicidal ideation, Aggressive beh... |
ORPHA:208441 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Dilation of lateral ventricles, Polymicrogyria |
OMIM:300982 |
| Congenital Disorder Of Glycosylation, Type In |
|
Respiratory insufficiency, Short stature, Failure to thrive, Myoclonus, Ataxia, Spasticity, Short... |
OMIM:612015 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Involuntary movements, Dystonia, Rigidity, Choreoathetosis, Torticollis, Chorea, Paroxysmal dyski... |
ORPHA:98810 |
| 16P13.2 Microdeletion Syndrome |
|
Dilated third ventricle, Short stature, Hydrocephalus, Sleep apnea, Plagiocephaly, Gait disturban... |
ORPHA:500055 |
| Dopa-Responsive Dystonia |
|
Irritability, Panic attack, Anxiety, Oculogyric crisis, Lethargy, Gait disturbance, Poor coordina... |
ORPHA:255 |
| X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Cachexia, Short stature, Chorea, Self-mutilation, Ataxia, Hypertonia, Hypera... |
ORPHA:52503 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements, Dolichocephaly |
OMIM:618425 |
| Dandy-Walker Syndrome |
|
Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Dilated fourth ventricle, Po... |
OMIM:220200 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Self-injurious behavi... |
ORPHA:544488 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Intrauterine growth retardation, Gait imbalance, Growth delay, Gait ataxia, Abnormal lateral vent... |
ORPHA:488635 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Parkinsonism, Abnormal fear/anxiety-related behavior, Short stature, Kyphoscoliosis, Aggressive b... |
ORPHA:3077 |
| Primary Ciliary Dyskinesia |
|
Wheezing, Productive cough, Neonatal respiratory distress, Asplenia, Bronchiectasis, Chronic otit... |
ORPHA:244 |
| Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Dystonia, Abnormal cortical gyration, Kinetic tremor, Chorea, Cerebral white mat... |
ORPHA:98756 |
| Dystonia 11, Myoclonic |
|
Writer's cramp, Agoraphobia, Torticollis, Myoclonus, Tremor, Anxiety, Depression |
OMIM:159900 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight, Hydrocephalus |
ORPHA:1672 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mood swings, Short stature, Aggressive behavior, Simplified gyral pattern, Kyphosis, Hypogonadism... |
OMIM:300354 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Babinski sign, Respiratory insufficiency, Failure to thrive, Dysmetria, Aggressive behavior, Myoc... |
OMIM:618356 |
| Aicardi-Goutieres Syndrome 4 |
|
Dystonia, Intrauterine growth retardation, Respiratory insufficiency, Cerebral calcification, CSF... |
OMIM:610333 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Paralysis, Dystonia, Central apnea, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia... |
ORPHA:71277 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Respiratory insufficiency due to muscle weakness, Kyphosis, Distal sensory impairment, Scoliosis,... |
OMIM:617087 |
| Leishmaniasis |
|
Leukopenia, Lymphadenopathy, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage morphology, Panc... |
ORPHA:507 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia, Respiratory insufficiency, Spinal rigidity, Hyperlordosis |
ORPHA:157973 |
| Huntington Disease-Like 2 |
|
Dystonia, Rigidity, Chorea, Weight loss, Apathy, Bradykinesia, Irritability, Action tremor, Anxie... |
OMIM:606438 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Dysgyria, Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebral wh... |
ORPHA:352682 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dilated third ventricle, Short stature, Colpocephaly, Apnea, Cervical spinal canal stenosis, Smal... |
ORPHA:397715 |
| Glycine Encephalopathy |
|
Aggressive behavior, Myoclonus, Hyperactivity, Irritability, Impulsivity, Agenesis of corpus call... |
OMIM:605899 |
| Congenital Hydrocephalus |
|
Abnormal cortical gyration, Small cerebral cortex, Colpocephaly, Ventriculomegaly, Frontal bossin... |
ORPHA:2185 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Upper limb dysmetria, Babinski sign, Knee clonus, Infertility, Upper limb spasticity, Spastic par... |
OMIM:614409 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute lymphoblastic leukemia, Neutropenia, Pneumonia, Monocytosis, Leukemia, Rhinitis, Recurrent ... |
ORPHA:486 |
| O'Donnell-Luria-Rodan Syndrome |
|
Skin-picking, Self-injurious behavior, Aggressive behavior, Abnormal corpus callosum morphology, ... |
OMIM:618512 |
| Developmental And Epileptic Encephalopathy 1 |
|
Dystonia, Growth delay, Choreoathetosis, Ventriculomegaly, Spastic tetraparesis, Hypertonia, Abno... |
OMIM:308350 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Weight loss, Cachexia, Gait ataxia |
OMIM:612075 |
| Ravine Syndrome |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Apnea, Abnormality o... |
ORPHA:99852 |
| Pontocerebellar Hypoplasia Type 4 |
|
Central apnea, Olivopontocerebellar hypoplasia, Myoclonus, Primary microcephaly, Hypertonia, Hypo... |
ORPHA:166063 |
| Spinocerebellar Ataxia 12 |
|
Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head... |
OMIM:604326 |
| Mulibrey Nanism |
|
Cachexia, Macrocephaly, Intrauterine growth retardation, Short stature |
ORPHA:2576 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus |
OMIM:617967 |
| Spinocerebellar Ataxia 17 |
|
Dystonia, Rigidity, Dysmetria, Chorea, Aggressive behavior, Myoclonus, Bradykinesia, Positive Rom... |
OMIM:607136 |
| Postencephalitic Parkinsonism |
|
Happy demeanor, Abnormal respiratory system physiology, Paresthesia, CSF lymphocytic pleiocytosis... |
ORPHA:97349 |
| Flynn-Aird Syndrome |
|
Cachexia, Impaired pain sensation, Kyphosis, Ataxia, Cerebral calcification, Scoliosis, Cerebral ... |
ORPHA:2047 |
| Cog5-Cdg |
|
Intrauterine growth retardation, Short stature, Cerebral white matter atrophy, Atrophy/Degenerati... |
ORPHA:263487 |
| Adult Krabbe Disease |
|
Clumsiness, Hemiplegia, Somatic sensory dysfunction, Gait disturbance, Abnormality of the medulla... |
ORPHA:206448 |
| Huntington Disease-Like 1 |
|
Rigidity, Dysmetria, Chorea, Aggressive behavior, Basal ganglia gliosis, Incoordination, Unsteady... |
OMIM:603218 |
| Bainbridge-Ropers Syndrome |
|
Intrauterine growth retardation, Metopic synostosis, Large fontanelles, Growth delay, Trigonoceph... |
OMIM:615485 |
| Caribbean Parkinsonism |
|
Dystonia, Midline brain calcifications, Weakness due to upper motor neuron dysfunction, Rigidity,... |
ORPHA:97355 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Myoclonus, Ataxia, Progressive microcephaly, Irritability, Spasticity, Cerebral atrophy, Secondar... |
OMIM:256730 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Upper limb spasticity, Short stature, Decreased response to growth hormone stim... |
ORPHA:457240 |
| Craniofacial Dyssynostosis |
|
Short stature, Craniosynostosis, Frontal bossing, Short neck, Sacral dimple, Macrocephaly, Hydroc... |
ORPHA:1516 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Babinski sign, Cachexia, Dystonia, Respiratory insufficiency, Spasticity, Dolichocephaly, Hypopla... |
OMIM:618186 |
| Alexander Disease |
|
Self-injurious behavior, Hydrocephalus, Sleep apnea, Abnormal pyramidal sign, Gait disturbance, C... |
ORPHA:58 |
| Combined Saposin Deficiency |
|
Babinski sign, Myoclonus, Fasciculations, Hyperkinetic movements, Abnormal periventricular white ... |
OMIM:611721 |
| Developmental And Epileptic Encephalopathy 92 |
|
Dystonia, Myoclonus, Ataxia, Inability to walk, Spasticity, Secondary microcephaly, Difficulty wa... |
OMIM:617829 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Dystonia, Short stature, Cerebral white matter atrophy, Lower limb spasticity, Kyphosis, Hip disl... |
ORPHA:464282 |
| Huntington Disease-Like 1 |
|
Clumsiness, Involuntary movements, Gait disturbance, Frequent falls, Dysmetria, Chorea, Weight lo... |
ORPHA:157941 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Neuronal loss in basal ganglia, Respiratory insufficiency, Hypoplasia of the pons, Fasciculations... |
OMIM:607596 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Dystonia, Partial agenesis of the corpus callosum, Spastic tetraplegia, Simplified gyral pattern,... |
OMIM:619302 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Limb hypertonia, Colpocephaly, Spastic gait, Lower limb spasticity, Impaired vibration sensation ... |
ORPHA:401815 |
| Hurler-Scheie Syndrome |
|
Rhinitis, Splenomegaly |
ORPHA:93476 |
| Chromosome 3Q29 Deletion Syndrome |
|
Small for gestational age, Failure to thrive, Aggressive behavior, Stereotypy, Hyperactivity, Anx... |
OMIM:609425 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Babinski sign, Gait disturbance, Dystonia, Rigidity, Choreoathetosis, Failure to thrive, Frequent... |
ORPHA:225154 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Myoclonus, Abnormal caudate... |
ORPHA:314632 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Sinusitis, Neutropenia, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:572 |
| Joubert Syndrome 13 |
|
Pachygyria, Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
| Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Flexion contracture of thumb, Absent septum pellucidum, Macrocephaly, Hydrocephalus, Spasticity, ... |
OMIM:307000 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Frontotemporal cerebral atrophy, Inappropriate behavior, Apathy, Bradykinesia, Shuffling gait, Fa... |
ORPHA:412066 |
| Inherited Creutzfeldt-Jakob Disease |
|
Clumsiness, Spastic hemiparesis, Focal T2 hyperintense basal ganglia lesion, Apathy, Irritability... |
ORPHA:282166 |
| Dystonia 23 |
|
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Cerebral c... |
OMIM:614860 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Short stature, Failure to thrive, Self-injurious behavior, Stereotypy, M... |
OMIM:619575 |
| Childhood-Onset Benign Chorea With Striatal Involvement |
|
Abnormal corpus striatum morphology, Chorea, Parkinsonism with favorable response to dopaminergic... |
ORPHA:494541 |
| Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Decreased CSF homovanillic aci... |
OMIM:605407 |
| Hemimegalencephaly |
|
Cranial asymmetry, Hemimegalencephaly, Myoclonus, Hemiparesis, Ventriculomegaly, Pachygyria, Macr... |
ORPHA:99802 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Frequent falls, Ventriculomegaly, Kyphosis, Pachygyria, Hyperlordosis, Tip-toe ... |
OMIM:606612 |
| Narp Syndrome |
|
Babinski sign, Myoclonic spasms, Short stature, Progressive gait ataxia, Ventriculomegaly, Ataxia... |
ORPHA:644 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Dilated third ventricle, Agenesis of corpus callosum, Aggressive behavior, Pulmonary arterial hyp... |
ORPHA:464738 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Absent hippocampal commissure, Abnormality of the anterior commissure, Hypoplasia of the pons, He... |
OMIM:617542 |
| Rabies |
|
Paresthesia, Cerebral palsy, Vocal cord paresis, Anxiety, Attention deficit hyperactivity disorde... |
ORPHA:770 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Rigidity, Platyspondyly, Spastic tetraplegia, Ventriculomegaly, Kyphosis, Ataxia, Macrocephaly, H... |
OMIM:618476 |
| X-Linked Intellectual Disability, Wilson Type |
|
Dilation of lateral ventricles, Growth delay, Microcephaly, Brachycephaly |
ORPHA:85290 |
| Nasu-Hakola Disease |
|
Chorea, Ventriculomegaly, Oculomotor apraxia, Irritability, Hydrocephalus, Disinhibition, Spastic... |
ORPHA:2770 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... |
ORPHA:101150 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Clumsiness, Short stature, Aggressive behavior, Hyperactivity, Hydrocephalus, Anxiety, Microcephaly |
OMIM:300558 |
| Pandas |
|
Clumsiness, Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Tics, Ir... |
ORPHA:66624 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Failure to thrive, Myoclonus, Decreased CSF homovanillic acid, Progressive microcephaly, Hyperton... |
OMIM:610090 |
| Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Gait disturbance, Deep cerebral white matter hyperintensities, Akinetic mutism, Rigidity, Pseudob... |
ORPHA:199354 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Myoclonus, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression, Diff... |
OMIM:619191 |
| Polymyoclonus, Infantile |
|
Ataxia, Myoclonus, Irritability |
OMIM:263550 |
| Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Apnea, Subependymal cysts, Decreased CSF glutamine concentration, ... |
OMIM:610015 |
| Scheuermann Disease |
|
Morbus Scheuermann, Osteochondrosis, Kyphosis |
OMIM:181440 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Abnormal pyramidal ... |
OMIM:615924 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Babinski sign, Cerebral atrophy, Akinetic mutism, Recurrent aspiration pneumonia, Hyperintensity ... |
ORPHA:204 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Babinski sign, Gait disturbance, Dystonia, Inappropriate behavior, Rigidity, Aggressive behavior,... |
OMIM:600795 |
| Dystonia 28, Childhood-Onset |
|
Gait disturbance, Dystonia, Short stature, Torticollis, Oromandibular dystonia, Myoclonus, Retroc... |
OMIM:617284 |
| Temple Syndrome |
|
Relative macrocephaly, Small for gestational age, Short stature, Frontal bossing, Postnatal growt... |
ORPHA:254516 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hypoplasia of the pons, Ventriculomegaly, Hydrocephalus, Type II lisse... |
OMIM:613154 |
| Frontal Encephalocele |
|
Macrocephaly, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Spina bifida, Cerebral ca... |
ORPHA:1931 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Dandy-Walker malformation, Hydranencephaly, Intrauterine growth retardation, Ventriculomegaly, Hy... |
OMIM:225790 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Perisylvian polymicrogyria, Short stature, Kyphosis, Ataxia, Inability to walk, Spasticity, Cereb... |
OMIM:618443 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Intrauterine growth retardation, Large fontanelles, Failure to thrive, Congenital hip dislocation... |
OMIM:612940 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Involuntary movements, Respiratory insufficiency due to muscle weakness, Fasciculations, Tetraple... |
OMIM:300816 |
| Developmental And Epileptic Encephalopathy 16 |
|
Dystonia, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Cerebral atrophy,... |
OMIM:615338 |
| Wolfram-Like Syndrome |
|
Respiratory insufficiency, Severe postnatal growth retardation, Progressive cerebellar ataxia, Ma... |
ORPHA:411590 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dandy-Walker malformation, Apneic episodes in infancy, Abnormal cerebral cortex morphology, Agene... |
ORPHA:163961 |
| Greig Cephalopolysyndactyly Syndrome |
|
Agenesis of corpus callosum, Metopic synostosis, Trigonocephaly, Craniosynostosis, Joint contract... |
OMIM:175700 |
| Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Small basal ganglia, Respiratory insufficiency, Abnormal brainstem MRI signal intensity, Abnormal... |
ORPHA:263410 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Tremor, Ataxia, Hemiplegia, Anxiety |
OMIM:141500 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Elevated CSF 4-hydroxybutyric acid concentration, A... |
OMIM:271980 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Babinski sign, Gait disturbance, Caudate atrophy, Myoclonus, Leukoencephalopathy, Disinhibition, ... |
OMIM:618193 |
| Prader-Willi Syndrome Due To Translocation |
|
Flat occiput, Skin-picking, Happy demeanor, Intrauterine growth retardation, Short stature, Anxie... |
ORPHA:177907 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Periodontitis, Hydrocephalus |
ORPHA:1008 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Opisthotonus, Short stature, Failure to thrive, Myoclonus, Spastic tetraplegia, Ventriculomegaly,... |
OMIM:615851 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Apnea, Choreoathetosis, Bradykinesia, Spastic tetraplegia, Wrist flexion contracture, Short neck,... |
OMIM:300055 |
| 4Q21 Microdeletion Syndrome |
|
Intrauterine growth retardation, Growth delay, Large fontanelles, Self-injurious behavior, Kyphos... |
ORPHA:238750 |
| Mental Retardation, Autosomal Dominant 57 |
|
Short stature, Craniosynostosis, Kyphosis, Tip-toe gait, Anxiety, Attention deficit hyperactivity... |
OMIM:618050 |
| Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Self-injurious behavior, Aggressive behavior, Speech apraxia, Stere... |
OMIM:613670 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Babinski sign, Gait disturbance, Inappropriate behavior, Caudate atrophy, Aggressive behavior, My... |
OMIM:221770 |
| Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Perisylvian polymicrogyria, Megalencephaly, Abnormal vertebral morp... |
ORPHA:280195 |
| Tenorio Syndrome |
|
Clumsiness, Gait disturbance, Pneumonia, Cerebral palsy, Apnea, Ventriculomegaly, Cavum septum pe... |
OMIM:616260 |
| Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Short stature, Small for gestational age, Congenital bilateral hip dislocation, Kyphosis, Hyperac... |
ORPHA:85288 |
| Whipple Disease |
|
Cachexia, Respiratory insufficiency, Myoclonus, Erectile dysfunction, Arthritis, Cough, Ataxia, H... |
ORPHA:3452 |
| Neuroferritinopathy |
|
Abnormality of the basal ganglia, Caudate atrophy, Bradykinesia, Iron accumulation in globus pall... |
ORPHA:157846 |
| Peho-Like Syndrome |
|
Myoclonus, Ventriculomegaly, Pachygyria, Progressive microcephaly, Hypoplasia of the corpus callo... |
OMIM:617507 |
| Paroxysmal Hemicrania |
|
Rhinitis, Rhinorrhea, Focal sensory seizure with olfactory features |
ORPHA:157835 |
| Autosomal Recessive Spastic Paraplegia Type 48 |
|
Spastic gait, Myoclonus, Lower limb spasticity, Abnormality of the cervical spine, Ataxia, Broad-... |
ORPHA:306511 |
| Achondroplasia |
|
Cervical spinal canal stenosis, Hydrocephalus, Limited elbow extension, Restrictive ventilatory d... |
ORPHA:15 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Intrauterine growth retardation, Growth delay, Rigidity, Small for... |
OMIM:619057 |
| Salt And Pepper Developmental Regression Syndrome |
|
Choreoathetosis, Failure to thrive, Myoclonus, Irritability, Microcephaly |
OMIM:609056 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Babinski sign, Failure to thrive in infancy, Dystonia, Short stature, Myoclonus, Increased CSF al... |
OMIM:619065 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dandy-Walker malformation, Dilated fourth ventricle, Posterior fossa cyst at the fourth ventricle... |
OMIM:220220 |
| Ck Syndrome |
|
Aggressive behavior, Slender build, Kyphosis, Hyperactivity, Pachygyria, Irritability, Polymicrog... |
OMIM:300831 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Short stature, Kyphosis, Hyperactivity, Hip dislocation, Scoliosis, Microcephaly |
OMIM:300434 |
| Temple Syndrome |
|
Intrauterine growth retardation, Small for gestational age, Short stature, Truncal obesity, Front... |
OMIM:616222 |
| Developmental And Epileptic Encephalopathy 6B |
|
Dystonia, Choreoathetosis, Chorea, Myoclonus, Stereotypy, Ataxia, Inability to walk, Hypoplastic ... |
OMIM:619317 |
| Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Caudate atrophy, Bradykinesia, Kyphosis, Tremor, Hypertonia, Ankle clonus, Spasticity, ... |
OMIM:617435 |
| Autosomal Spastic Paraplegia Type 58 |
|
Short stature, Torticollis, Spastic ataxia, Fasciculations, Cerebral atrophy, Abnormal pyramidal ... |
ORPHA:397946 |
| Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonus, Abnormality of extrapyramidal motor function, Ataxia, Parkinsonism, Depression |
OMIM:162350 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Intrauterine growth retardation, Growth delay, Probst bundles, Frontal bossing, Respiratory distr... |
OMIM:612863 |
| Kleeblattschaedel |
|
Craniosynostosis, Elbow ankylosis, Hydrocephalus, Cloverleaf skull |
OMIM:148800 |
| 17P11.2 Microduplication Syndrome |
|
Short stature, Failure to thrive, Speech apraxia, Poor fine motor coordination, Sleep apnea, Anxi... |
ORPHA:1713 |
| Yellow Nail Syndrome |
|
Sinusitis, Bronchiectasis, Rhinitis, Pulmonary arterial hypertension, Cough, Dyspnea |
ORPHA:662 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Craniosynostosis, Spastic ataxia, Stereotypy, Anxiety, Attention deficit hyperactivity disorder, ... |
OMIM:618906 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Ciliary dyskinesia |
ORPHA:1882 |
| Joubert Syndrome 31 |
|
Ventriculomegaly, Oculomotor apraxia, Molar tooth sign on MRI, Truncal ataxia, Hypoplasia of the ... |
OMIM:617761 |
| Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Gait disturbance, Dystonia, Impaired proprioception, Gait imbalance, Dysmetria, ... |
ORPHA:98755 |
| Coach Syndrome 2 |
|
Apneic episodes in infancy, Hypertension, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, ... |
OMIM:619111 |
| Perry Syndrome |
|
Parkinsonism, Respiratory arrest, Dystonia, Inappropriate behavior, Respiratory insufficiency, Ri... |
OMIM:168605 |
| Mcdonough Syndrome |
|
Cachexia, Scoliosis, Short stature, Kyphosis |
ORPHA:2471 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations |
OMIM:615048 |
| Ataxia-Telangiectasia-Like Disorder |
|
Dystonia, Short stature, Frequent falls, Dilated fourth ventricle, Dysmetria, Chorea, Myoclonus, ... |
ORPHA:251347 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Hypoplasia of the pons, Myoclonus, Hypertonia, Hypoplasia of the brainstem, Spasticity, Respirato... |
OMIM:225753 |
| Posttransplant Acute Limbic Encephalitis |
|
Dystonia, Hyperglycorrhachia, CSF polymorphonuclear pleocytosis, Myoclonus, CSF lymphocytic pleio... |
ORPHA:163921 |
| Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Amenorrhea, Ataxia, Premature ovarian insufficiency, Anxiety, Depression, Difficulty walking, Cer... |
OMIM:619425 |
| Progressive Myoclonic Epilepsy With Dystonia |
|
Dystonia, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Hemiplegia, Abnor... |
ORPHA:352596 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Dandy-Walker malformation, Athetosis, Dystonia, Dysplastic corpus callosum, Intrauterine growth r... |
ORPHA:357058 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Midface retrusion, Brachycephaly, Unilambdoid synostosis, Ventriculomegaly, Hydroc... |
OMIM:618577 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Apnea, Progressive microcephaly... |
OMIM:611523 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Disproportionate short stature, Central apnea, Megalencephaly, Rhizomelia, Pulmonary arterial hyp... |
OMIM:616482 |
| Mental Retardation, Autosomal Dominant 26 |
|
Small for gestational age, Brachycephaly, Cerebral palsy, Short stature, Kyphosis, Hypertonia, Sc... |
OMIM:615834 |
| Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity, Cerebral atrophy, Anxiety, Hypoplasia of the corpus callosum, Microcephaly, Impuls... |
OMIM:616977 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia |
ORPHA:308 |
| Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Failure to thrive, Dysmetria, Myoclonus, Ventriculomegaly |
OMIM:618251 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Babinski sign, Dystonia, Dysmetria, Aggressive behavior, Bradykinesia, Tremor, Ataxia, Dysdiadoch... |
OMIM:615157 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Happy demeanor, Limb hypertonia, Apnea, Stereotypy, Thin corpus callosum, Anxiety, Recurrent hand... |
OMIM:619580 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cerebellar cyst, Diffuse white matter abnormalities, Dilated fourth ventricle, Hypoplasia of the ... |
ORPHA:370959 |
| Williams-Beuren Region Duplication Syndrome |
|
Gait disturbance, Short stature, Brachycephaly, Decreased response to growth hormone stimulation ... |
OMIM:609757 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Plagiocephaly, Gait disturbance, Intrauterine growth retardation, Brachycephaly, Ventriculomegaly... |
ORPHA:272 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Postural tremor, Parkinsonism, Babinski sign, Rigidity, Torticollis, Abnormality of extrapyramida... |
ORPHA:98808 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Hemivertebrae, Short stature, Failure to thrive, Decreased body mass index, Frontal bossing, Trem... |
ORPHA:370079 |
| Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Septo-optic dysplasia, Craniosynostosis, Frontal bossing, Hydrocephalus, Lissenc... |
ORPHA:1528 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Small for gestational age, Short stature, Kyphosis, Waddling gait, Delayed ossification of carpal... |
OMIM:618392 |
| Gm1-Gangliosidosis, Type Iii |
|
Dystonia, Short stature, Hypoplastic acetabulae, Platyspondyly, Kyphosis, Slurred speech, Diffuse... |
OMIM:230650 |
| Parastremmatic Dwarfism |
|
Kyphosis, Severe short stature, Genu valgum, Short neck, Scoliosis |
OMIM:168400 |
| Dystonia 6, Torsion |
|
Lingual dystonia, Writer's cramp, Torticollis, Oromandibular dystonia, Myoclonus, Laryngeal dysto... |
OMIM:602629 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Dandy-Walker malformation, Relative macrocephaly, Short stature, Brachycephaly, Trigonocephaly, A... |
ORPHA:459061 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Babinski sign, Hydrocephalus, Spasticity, Cerebral atrophy, Abnormal pyramidal sign, Secondary mi... |
ORPHA:397951 |
| Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar dysplasia, Hypoplasia of the pons, Ventriculomegaly, Cerebellar vermis hypoplasia, Hyp... |
ORPHA:101070 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Dystonia, Clonus, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Abnormality of extr... |
ORPHA:13 |
| Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma |
ORPHA:330064 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Growth delay, Atrophy/Degeneration affecting the brainstem, Myoclonus, Ventriculomegaly, Cerebral... |
OMIM:614946 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Small for gestational age, Short stature, Cerebral palsy, Joint contracture of the hand, Kyphosis... |
ORPHA:352490 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Ataxia, Myoclonus, Cerebral atrophy |
OMIM:600143 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Central sleep apnea, Tremor,... |
ORPHA:79262 |
| Weaver Syndrome |
|
Limited knee extension, Joint contracture of the hand, Absent septum pellucidum, Kyphosis, Hypert... |
OMIM:277590 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Chronic rhinitis due to narrow nasal airway, Anemia, Osteomyelitis, Hepatosplenomegaly, Mandibula... |
OMIM:259710 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Leukoencephalopathy, Polymicrogyri... |
OMIM:615181 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Clumsiness, Babinski sign, Gait disturbance, Arm dystonia, Dysmetria, Atrophy/Degeneration affect... |
ORPHA:88644 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Paresthesia, Hypogonadotropic hypogonadism, Weight loss, Leukoencephalopathy, Abnormal ... |
ORPHA:298 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Intrauterine growth retardation, Large fontanelles, Respiratory distress, Dyspnea, Respiratory fa... |
ORPHA:1832 |
| Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... |
ORPHA:363710 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Emotional lability, Parkinsonis... |
ORPHA:71517 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Dystonia, Partial agenesis of the corpus callosum, Hyperintensity of cerebral white matter on MRI... |
ORPHA:500144 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Partial agenesis of the corpus callosum, Spasticity, Hydrocephalus, Microcephaly |
OMIM:304100 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Gerstmann-Straussler Disease |
|
Rigidity, Neurofibrillary tangles, Aggressive behavior, Weight loss, Myoclonus, Bradykinesia, Tre... |
OMIM:137440 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Increased head circumference, Abnormality of the basal ganglia, T2 hypointense basal ganglia, Pal... |
ORPHA:25 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Kyphosis, ... |
ORPHA:40 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Gomez-Lopez-Hernandez Syndrome |
|
Short stature, Brachycephaly, Self-injurious behavior, Craniosynostosis, Skull asymmetry, Wormian... |
OMIM:601853 |
| Jaberi-Elahi Syndrome |
|
Dystonia, Choreoathetosis, Failure to thrive, Dysmetria, Kyphosis, Tremor, Inability to walk, Spa... |
OMIM:617988 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Babinski sign, Weakness due to upper motor neuron dysfunction, Apathy, Abnormality of extrapyrami... |
ORPHA:275872 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Self-injurious behavior, Stereotypy, Polymicrogyria, Camptodactyly of finger, Cerebral atrophy, C... |
ORPHA:468631 |
| Adenylosuccinase Deficiency |
|
Happy demeanor, Opisthotonus, Growth delay, Brachycephaly, Aggressive behavior, Self-mutilation, ... |
OMIM:103050 |
| Mental Retardation, Autosomal Recessive 41 |
|
Stereotypy, Frontal bossing, Scaphocephaly, Macrocephaly, Anxiety, Dolichocephaly |
OMIM:615637 |
| Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Falls, Frequent falls |
OMIM:614937 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Limb myoclonus, Recurrent aspiration pneumonia, Frequent falls, Respiratory insuffici... |
ORPHA:2590 |
| Multiple System Atrophy, Cerebellar Type |
|
Postural tremor, Parkinsonism, Stridor, Axial dystonia, Rigidity, Frequent falls, Apathy, Bradyki... |
ORPHA:227510 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Dystonia, Punctate periventricular T2 hyperintense foci, ... |
ORPHA:309246 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Knee flexion contracture, Fasciculations, Waddling gait, Hyperlordosis, Spasticity, Tip-toe gait |
OMIM:615290 |
| Pontocerebellar Hypoplasia, Type 2B |
|
Babinski sign, Clonus, Dystonia, Limb hypertonia, Opisthotonus, Chorea, Extrapyramidal dyskinesia... |
OMIM:612389 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Flat occiput, Happy demeanor, Gait imbalance, Limitation of movement at ankles, Mild microcephaly... |
ORPHA:98794 |
| Thanatophoric Dysplasia |
|
Intrauterine growth retardation, Respiratory insufficiency, Cloverleaf skull, Abnormal sacroiliac... |
ORPHA:2655 |
| Kleefstra Syndrome 2 |
|
Plagiocephaly, Growth delay, Self-injurious behavior, Kyphosis, Midface retrusion, Scoliosis, Mic... |
OMIM:617768 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Allergic rhinitis, Anemia, Splenomegaly, Skin rash, Asthma, Anemia of inadequate production |
OMIM:612714 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Abnormality of the vertebral column, Dystonia, Abnormal vertebral morphology, Dysmetria, Myoclonu... |
OMIM:250620 |
| Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology, Growth delay, Simplified gyral pattern, Abnormal cerebral cortex m... |
ORPHA:411493 |
| 48,Xxyy Syndrome |
|
Flat occiput, Infertility, Azoospermia, Obesity, Apnea, Depression, Ventriculomegaly, Stereotypy,... |
ORPHA:10 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Involuntary movements, Gait disturbance, Dystonia, Chorea, Myoclonus, Ataxia, Craniofacial dyston... |
OMIM:617282 |
| Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Mend Syndrome |
|
Dandy-Walker malformation, Short stature, Kyphosis, Hyperactivity, Hypertonia, Hydrocephalus, Mid... |
OMIM:300960 |
| Multiple System Atrophy, Parkinsonian Type |
|
Postural tremor, Parkinsonism, Stridor, Axial dystonia, Rigidity, Frequent falls, Apathy, Bradyki... |
ORPHA:98933 |
| Microtriplication 11Q24.1 |
|
Short stature, Joint dislocation, Speech apraxia, Genu valgum, Hyperkinetic movements, Obesity, S... |
ORPHA:289522 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Involuntary movements, Limb hypertonia, Rigidity, Short stature, Failure to thrive, Myoclonus, Ab... |
ORPHA:442835 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Aggressive behavior, Frontal bossing, Hyperactivity, Thoracic kyphosis, ... |
OMIM:619467 |
| Parkinsonism With Polyneuropathy |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:619279 |
| Joubert Syndrome 32 |
|
Large for gestational age, Frontal bossing, Oculomotor apraxia, Ataxia, Macrocephaly, Polymicrogy... |
OMIM:617757 |
| Joubert Syndrome 7 |
|
Central apnea, Brainstem dysplasia, Tachypnea, Abnormal corpus callosum morphology, Episodic tach... |
OMIM:611560 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Short stature, Kyphosis, Frontal bossing, Depression, Obesity, Scoliosis, Bipolar affective disorder |
ORPHA:276630 |
| Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
| Cole-Carpenter Syndrome 2 |
|
Short stature, Wormian bones, Platyspondyly, Kyphosis, Frontal bossing, Macrocephaly, Turricephal... |
OMIM:616294 |
| Cdkl5-Deficiency Disorder |
|
Gait disturbance, Abnormal respiratory system physiology, Growth delay, Impaired pain sensation, ... |
ORPHA:505652 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Gait disturbance, Shoulder dislocation, Kyphosis, Frontal bossing, Hydrocephalus, Hemiplegia, Sco... |
ORPHA:2181 |
| Alazami Syndrome |
|
Severe short stature, Anxiety, Decreased body weight, Scoliosis, Microcephaly |
OMIM:615071 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Holoprosencephaly, Absent septum pellucidum, Hydrocephalus, Spasticity, Aqueductal stenosis, Agen... |
ORPHA:2182 |
| Valinemia |
|
Failure to thrive, Hyperkinetic movements |
OMIM:277100 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Short stature, Azoospermia, Cubitus valgus, Hydrocephalus, Hypergonadotropic hypogonadism, Obesit... |
ORPHA:2183 |
| Sandhoff Disease |
|
Failure to thrive, Ataxia, Macrocephaly, Kyphosis |
ORPHA:796 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Athetosis, Gait disturbance, Respiratory insufficiency, Rigidity, Myoclonus, Ventriculomegaly, In... |
OMIM:618241 |
| L1 Syndrome |
|
Gait disturbance, Hydrocephalus, Spasticity, Aqueductal stenosis, Depression, Hemiplegia/hemiparesis |
ORPHA:275543 |
| Idiopathic Bronchiectasis |
|
Wheezing, Productive cough, Cachexia, Crackles, Abnormal respiratory system physiology, Bronchiec... |
ORPHA:60033 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Large fontanelles, Brachycephaly, Craniosynostosis, Abnormality of the septum pellucidum, Spastic... |
ORPHA:171839 |
| Lennox-Gastaut Syndrome |
|
Aggressive behavior, Myoclonus, Falls, Abnormal brainstem morphology, Hyperactivity, Personality ... |
ORPHA:2382 |
| Xq28 (MECP2) duplication |
|
Progressive spasticity, Brachycephaly, Failure to thrive, Stereotypy, Inability to walk, Hypoplas... |
DECIPHER:45 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Plagiocephaly, Cervical platyspondyly, Colpocephaly, Polymicrogyria, Midface retrusion, Scoliosis... |
OMIM:618731 |
| Multicentric Reticulohistiocytosis |
|
Cachexia, Arthritis |
ORPHA:139436 |
| Cln5 Disease |
|
Clumsiness, Poor gross motor coordination, Periventricular white matter hyperintensities, Dysmetr... |
ORPHA:228360 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Athetosis, Dystonia, Failure to thrive, Respiratory insufficiency due to muscle weakness, Loss of... |
OMIM:612073 |
| Joubert Syndrome With Renal Defect |
|
Gait disturbance, Abnormal pattern of respiration, Apnea, Tremor, Oculomotor apraxia, Ataxia, Mol... |
ORPHA:220497 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Dystonia, Myoclonus, Tremor, Progressive cerebellar ataxia, Increased CSF lactate, Focal T2 hypoi... |
ORPHA:139485 |
| Craniosynostosis 6 |
|
Plagiocephaly, Dandy-Walker malformation, Brachycephaly, Craniosynostosis, Abnormal corpus callos... |
OMIM:616602 |
| Selective Igm Deficiency |
|
Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy,... |
ORPHA:331235 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Myoclonus, Cerebral atrophy |
OMIM:204500 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia, Short stature |
ORPHA:1144 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor |
ORPHA:2589 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Dysmetria, Kyphosis, Ataxia, Spasticity, Limb ataxia, Gait ataxia, Scoliosis |
OMIM:610743 |
| Pulmonary Blastoma |
|
Dyspnea, Weight loss, Recurrent pneumonia, Cough |
ORPHA:64741 |
| Familial Scheuermann Disease |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Relative macrocephaly, Intrauterine growth retardation, S... |
ORPHA:813 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Dystonia, Respiratory insufficiency due to muscle weakness, Kyphosis, Inability to walk, Cerebral... |
OMIM:611890 |
| Duplication Of The Pituitary Gland |
|
Brachyturricephaly, Abnormal midbrain morphology, Abnormality of the odontoid process, Short stat... |
ORPHA:314621 |
| Phenylketonuria |
|
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Cerebral calcification, Anxiet... |
OMIM:261600 |
| Tay-Sachs Disease |
|
Clumsiness, Fasciculations, Incoordination, Limited elbow extension, Anxiety, Gait disturbance, H... |
ORPHA:845 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Thickened calvaria, Short stature, Kyphosis, Cervical spinal canal stenosis, Obesity, Scheuermann... |
OMIM:301900 |
| Warburg Micro Syndrome 3 |
|
Brachycephaly, Kyphoscoliosis, Spastic tetraplegia, Ventriculomegaly, Postnatal growth retardatio... |
OMIM:614222 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Kyphoscoliosis, Macrocephaly, Hydrocephalus, Spastic tetraplegia |
OMIM:300886 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Respiratory insufficiency due to muscle weakness, Myoclonus, Fasciculations, Trem... |
OMIM:159950 |
| Hsd10 Disease, Infantile Type |
|
Dystonia, Paroxysmal bursts of laughter, Poor coordination, Choreoathetosis, Spastic tetraparesis... |
ORPHA:391428 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Craniosynostosis, Turricephaly, Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly, H... |
ORPHA:1496 |
| Developmental And Epileptic Encephalopathy 40 |
|
Myoclonus, Cerebral cortical atrophy, Spasticity, Choreoathetosis |
OMIM:617065 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Failure to thrive, Dilation of lateral ventricles, Agenesis of corpus callosum |
OMIM:300952 |
| Methylcobalamin Deficiency Type Cble |
|
Intrauterine growth retardation, Failure to thrive, Ventriculomegaly, Hypoplasia of the brainstem... |
ORPHA:2169 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Microcephaly, Dilation of lateral ventricles, Small for gestational age |
OMIM:619278 |
| Classic Galactosemia |
|
Clumsiness, Secondary amenorrhea, Postural tremor, Gait disturbance, Oligomenorrhea, Gait imbalan... |
ORPHA:79239 |
| Fragile X Tremor/Ataxia Syndrome |
|
Postural tremor, Parkinsonism, Dysmetria, Bradykinesia, Intention tremor, Impaired tandem gait, R... |
OMIM:300623 |
| Mental Retardation, Autosomal Dominant 36 |
|
Plagiocephaly, Ventriculomegaly, Inability to walk, Hydrocephalus, Prominent metopic ridge, Hypop... |
OMIM:616362 |
| Coffin-Siris Syndrome 6 |
|
Plagiocephaly, Short stature, Kyphoscoliosis, Wormian bones, Stereotypy, Frontal bossing, Tics, P... |
OMIM:617808 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Ataxia, Hypertonia, Myoclonus, Progressive extrapyramidal movement disorder |
OMIM:612736 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dystonia, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Tremor, Ataxia, Poor fine m... |
ORPHA:79263 |
| Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Stillbirth, Hydrocephalus, Respiratory failure, Aqueductal stenosis |
OMIM:276950 |
| Spinocerebellar Ataxia 2 |
|
Postural tremor, Rigidity, Dilated fourth ventricle, Dysmetria, Myoclonus, Bradykinesia, Fascicul... |
OMIM:183090 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Impaired pain sensation, Kyphosis, Tremor, Ataxia, Scoliosis |
ORPHA:101075 |
| Joubert Syndrome 2 |
|
Central apnea, Brainstem dysplasia, Failure to thrive, Abnormal corpus callosum morphology, Episo... |
OMIM:608091 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Self-injurious behavior, Stereotypy, Hydrocephalus, Thin corpus callosum, Anxiety, Plagiocephaly,... |
OMIM:619512 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Myoclonus, Abnormality of extrapyramidal motor function, Cerebral atrophy, Parkinsonism, Anxiety |
OMIM:204200 |
| Aicardi Syndrome |
|
Dilated third ventricle, Dandy-Walker malformation, Partial agenesis of the corpus callosum, Butt... |
OMIM:304050 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:613728 |
| Dystonia 12 |
|
Dystonia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Parkinsonism, Anxiety, De... |
OMIM:128235 |
| Schwartz-Jampel Syndrome |
|
Short stature, Apnea, Irritability, Protrusio acetabuli, Anxiety, Decreased body weight, Abnormal... |
ORPHA:800 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Short stature, Ataxia, Hydrocephalus, Spasticity, Microcephaly |
ORPHA:220295 |
| Mosaic Trisomy 1 |
|
Small anterior fontanelle, Frontal bossing, Macrocephaly, Polymicrogyria, Camptodactyly of finger... |
ORPHA:1692 |
| Congenital Toxoplasmosis |
|
Failure to thrive in infancy, Intrauterine growth retardation, Ventriculomegaly, Hydrocephalus, C... |
ORPHA:858 |
| Pontocerebellar Hypoplasia, Type 1D |
|
Intrauterine growth retardation, Respiratory insufficiency, Failure to thrive, Fasciculations, Sp... |
OMIM:618065 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Pachygyria |
OMIM:614870 |
| Joubert Syndrome 30 |
|
Dandy-Walker malformation, Cerebellar atrophy, Tachypnea, Apnea, Ventriculomegaly, Molar tooth si... |
OMIM:617622 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Anxiety, Attention deficit hyperactivity disorder, Hydrocephalus |
ORPHA:261102 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Ataxia, Exertional dyspnea, Macrocephaly, Lethargy |
ORPHA:42 |
| Biemond Syndrome Type 2 |
|
Short stature, Hypogonadotropic hypogonadism, Hypogonadism, Hydrocephalus, Obesity, Delayed puberty |
ORPHA:141333 |
| Hydrolethalus Syndrome 2 |
|
Anencephaly, Ventriculomegaly, Molar tooth sign on MRI, Hydrocephalus, Agenesis of corpus callosum |
OMIM:614120 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Frequent falls, Myoclonus, Progressive gait ataxia, Upper limb hypertonia, Progres... |
ORPHA:254343 |
| Ichthyosis Prematurity Syndrome |
|
Neonatal asphyxia, Allergic rhinitis, Erythroderma, Asthma |
OMIM:608649 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Renpenning Syndrome |
|
Cachexia, Growth delay, Microcephaly, Severe short stature |
ORPHA:3242 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Failure to thrive, Myoclonus, Ataxia, Hypertonia, Respiratory distress, Spasticity, Cerebral atro... |
OMIM:618426 |
| Greig Cephalopolysyndactyly Syndrome |
|
Craniosynostosis, Frontal bossing, Macrocephaly, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
| Joubert Syndrome |
|
Gait disturbance, Abnormal pattern of respiration, Abnormal form of the vertebral bodies, Apnea, ... |
ORPHA:475 |
| Joubert Syndrome With Ocular Defect |
|
Gait disturbance, Abnormal pattern of respiration, Abnormal vertebral morphology, Apnea, Tremor, ... |
ORPHA:220493 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Microcephaly, Kyphosis |
OMIM:617061 |
| Brachyolmia Type 1, Hobaek Type |
|
Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, Back pain, Kyphosis, S... |
OMIM:271530 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Megalencephaly, Thick corpus callosum, Knee flexion contracture, Kyphosis, Frontal bossing, Pachy... |
OMIM:603387 |
