Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia, Cerebellar vermis atrophy |
OMIM:618185 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Cerebellar hypoplasia, Pach... |
OMIM:607432 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Cerebellar dysplasia |
OMIM:604213 |
Microlissencephaly |
|
Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter... |
ORPHA:1083 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy, Gait disturbance |
ORPHA:98766 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca... |
OMIM:615268 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Broad-based gait, Dysdiadochokinesis |
OMIM:605388 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy |
ORPHA:458798 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... |
ORPHA:101010 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Periventricular nodular heterotopia, Cerebellar hypoplasia |
OMIM:618572 |
Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Pachygyria |
OMIM:614173 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the pons, Lissencephaly, Cerebellar hypoplasia, Periventricular ribbonlike heterotopia |
OMIM:618677 |
Pontocerebellar Hypoplasia, Type 4 |
|
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Respiratory failure, Hyp... |
OMIM:225753 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Tongue atrophy, Respiratory failure, Fasciculations, Tongue fascic... |
OMIM:613435 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy |
OMIM:613371 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Tremor, Dyspnea,... |
ORPHA:90117 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Periventricular laminar heterotopia, Pachygyria, Gray matter hetero... |
OMIM:611603 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Cerebellar hypoplasia,... |
ORPHA:352682 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Cerebellar atrophy |
OMIM:617643 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Respiratory insufficiency due to muscle we... |
ORPHA:2590 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... |
OMIM:616053 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Cerebellar atrophy, Pachygyria, Lissencephaly, Polymicrogyria |
OMIM:618730 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Cerebellar vermis hypoplasia, Respiratory insufficiency |
OMIM:616081 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Inability to walk, Abnormal respiratory system physiology, Respiratory in... |
ORPHA:266 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Loss of ambulation, Respiratory failure |
OMIM:300717 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, Chorea, Imp... |
ORPHA:98755 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Respiratory failure, Ataxia, Dysphagia |
OMIM:618637 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... |
ORPHA:284332 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Tented upper lip vermilion, Ataxia, Tremor, Cerebellar gliosis, Babinski sign... |
OMIM:616505 |
Pontocerebellar Hypoplasia, Type 1E |
|
Cerebellar atrophy, Respiratory failure requiring assisted ventilation, Hypoplasia of the pons, O... |
OMIM:619303 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:615411 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia |
OMIM:615705 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Apnea, Ataxia, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
Pontocerebellar Hypoplasia Type 1 |
|
Ataxia, Hypoplasia of the pons, Optic atrophy, Congenital laryngeal stridor, Degeneration of ante... |
ORPHA:2254 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia |
OMIM:617584 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Diaphragmatic paralysis, Respiratory insufficiency, Cleft palate, Restricti... |
OMIM:614399 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Cerebellar vermis hypoplasia, Facial palsy, Respiratory insufficiency, Abnormal pons morphology, ... |
ORPHA:370968 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Dysphagia, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Giant somatosensory evoked potentials, Ataxia |
OMIM:618876 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Broad-based gait, Simplified gyral pattern, Dysmetria, Gait ataxia, Dysdiadoc... |
OMIM:224050 |
Acalvaria |
|
Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypopl... |
ORPHA:945 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine... |
ORPHA:423275 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Restrictive ventilatory defect, Respiratory failure, Tip-toe gait, Macrogloss... |
OMIM:606612 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab... |
OMIM:613954 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Neonatal respiratory distress, Apnea, Respiratory failure, Cerebellar hypopla... |
ORPHA:168486 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Respiratory insuf... |
OMIM:611890 |
Lissencephaly 5 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Subcortical band heterotopi... |
OMIM:615191 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Lissencephaly, X-Linked, 1 |
|
Death in infancy, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:300067 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... |
OMIM:615960 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Cerebellar hypoplasia, Cerebellar dyspl... |
OMIM:616531 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... |
OMIM:617633 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Spasticity, Fr... |
OMIM:617691 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet... |
OMIM:616127 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Tongue fasciculations, Respiratory insufficiency |
OMIM:253300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, ... |
OMIM:613153 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Macrogyria, Titubation, Respirat... |
ORPHA:280210 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Dysphagia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar ... |
OMIM:614229 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Ankle clonus, Hemiparesis, Respiratory failure, Tongue fasciculations, Tetraparesis |
OMIM:600561 |
Lissencephaly 2 |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Lissencephaly, 4-layered lissencephaly |
OMIM:257320 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis |
OMIM:615386 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respiratory failure, M... |
ORPHA:1832 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Broad-based gait, Apnea, Central hypoventilation, Ataxia, Dysmetria, Respiratory failure, Dysphagia |
OMIM:618233 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy-Walker malforma... |
OMIM:617622 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar atrophy, Gray matter heterotopia, Pachygyria, Cerebellar cyst |
ORPHA:370980 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:617770 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Simplified gyral pattern, Periventricular he... |
OMIM:618273 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Optic atrophy, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Neonatal respiratory distress, Ataxia, Aggressive behavior, Babinski sign, Re... |
OMIM:618356 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Gray matter heterotopia, ... |
ORPHA:300573 |
Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Polymicrogyri... |
OMIM:615181 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Pachygyria, Agyria |
ORPHA:1084 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Tachypnea, Respiratory failure, Gait disturbance, ... |
OMIM:615838 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Periventricular heterotopia, Hypoplasia of the pons, Simplified gyral pattern... |
OMIM:616171 |
Intermediate Nemaline Myopathy |
|
High, narrow palate, Dysphagia, Respiratory failure, Difficulty walking, Long philtrum |
ORPHA:171433 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy |
OMIM:618412 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Cerebellar hypoplasia |
OMIM:615228 |
3-Methylglutaconic Aciduria, Type Iv |
|
Neonatal respiratory distress, Cerebellar dysplasia |
OMIM:250951 |
Hyperekplexia 4 |
|
Respiratory failure, Hypertonia, High palate, Myoclonus |
OMIM:618011 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Facial palsy |
OMIM:604801 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... |
OMIM:117360 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormality of neuronal migration |
OMIM:618709 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... |
OMIM:616204 |
Lissencephaly 6 With Microcephaly |
|
Cerebellar atrophy, Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Microlisse... |
OMIM:616212 |
Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration |
ORPHA:101029 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cerebellar atrophy, Babinski sign, Gingival overgrowth, Respiratory insufficiency, Narrow palate,... |
OMIM:618186 |
Nemaline Myopathy 8 |
|
Respiratory failure, Facial palsy |
OMIM:615348 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Gait imbala... |
ORPHA:101070 |
Leber Congenital Amaurosis |
|
Encephalocele, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:65 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Res... |
ORPHA:363400 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... |
OMIM:609270 |
Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:609306 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Death in infancy, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Agyria |
OMIM:616342 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness |
ORPHA:352447 |
Alg1-Cdg |
|
Cerebellar atrophy, Respiratory failure |
ORPHA:79327 |
Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Limb myoc... |
ORPHA:276198 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Ataxia, Inability to walk, Chorea, Respiratory failure, Dysphagia, Spasticity |
ORPHA:70472 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth |
OMIM:276950 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebellar edema, Restlessness, Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Cervical myelo... |
OMIM:617186 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Respiratory fa... |
OMIM:312170 |
Periventricular Nodular Heterotopia 1 |
|
Cerebellar hypoplasia, Gray matter heterotopia, Abnormality of neuronal migration |
OMIM:300049 |
Spinocerebellar Ataxia Type 8 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste... |
ORPHA:98760 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Pneumothorax, Hype... |
OMIM:619738 |
Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, Respiratory insufficiency, High ... |
OMIM:201550 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Respiratory failure, Cerebellar hypopla... |
OMIM:620327 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Cerebellar vermis hypoplasia, Respiratory insufficiency due to muscle weakness, Pe... |
OMIM:618291 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, High palate, Respiratory failure, Apnea |
OMIM:618414 |
Tibial Muscular Dystrophy |
|
Respiratory failure, Steppage gait, Difficulty walking, Clumsiness |
ORPHA:609 |
Joubert Syndrome 23 |
|
Tachypnea, Apnea, Cerebellar dysplasia |
OMIM:616490 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Respiratory failure, Ataxia |
ORPHA:1861 |
Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... |
ORPHA:98772 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Cerebellar hypoplasia, Pachygyria, Abnormality of neuronal migration |
OMIM:608840 |
Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Progressive cerebellar ataxia, Limb dysmetria |
OMIM:600223 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,... |
OMIM:604317 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Dyspnea, Xerostomia, Abnormal res... |
ORPHA:803 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... |
OMIM:608647 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Ataxia, Respiratory failure, Dysphagia, Loss of ambulation, Frequent falls |
OMIM:620166 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Abnormal cortical gyration, Respiratory failure, Dysphagia |
OMIM:616867 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Chorea, Abnormal drinking behavior, Choreoathetosis, Compulsive behaviors, ... |
ORPHA:209905 |
Spinocerebellar Ataxia 6 |
|
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Truncal ataxia, Dysmetria, Progressiv... |
OMIM:183086 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Spastic tetraplegia, Respiratory insufficiency, Respiratory failure, High palate, Polymicrogyria |
OMIM:615330 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Limb ataxia, Gait at... |
OMIM:614575 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors |
OMIM:619405 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Congenital Myopathy 10B, Mild Variant |
|
Reduced forced vital capacity, Recurrent pneumonia, Cleft palate, Respiratory failure, High palat... |
OMIM:620249 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Respiratory failure, Polymicrogyria, Agyria, Cerebel... |
OMIM:616538 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... |
ORPHA:2302 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Respiratory failure, Akinesia |
OMIM:619334 |
Leigh Syndrome |
|
Ataxia, Optic atrophy, Respiratory insufficiency, Respiratory failure, Abnormal pattern of respir... |
OMIM:256000 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly |
ORPHA:89844 |
Band Heterotopia |
|
Gray matter heterotopia, Hydrocephalus, Subcortical band heterotopia, Polymicrogyria |
OMIM:600348 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... |
ORPHA:370022 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Inability to walk, Hydrocephalus, Macroglossia, Cerebellar hypoplas... |
OMIM:613155 |
Neurocutaneous Melanocytosis |
|
Death in infancy, Meningocele, Abnormality of neuronal migration, Chiari malformation, Aplasia/Hy... |
ORPHA:2481 |
3-Methylglutaconic Aciduria Type 7 |
|
Cerebellar atrophy, Pneumothorax, Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoatheto... |
ORPHA:445038 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Respiratory failure requiring assisted ventilation, Ataxia, Recurrent pneumon... |
ORPHA:496641 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory failure, Abnormal... |
OMIM:614299 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia, Oral-pharyngeal dysphagia |
ORPHA:99772 |
Muscular Dystrophy, Duchenne Type |
|
Waddling gait, Hypoventilation, Respiratory insufficiency due to muscle weakness, Restrictive ven... |
OMIM:310200 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Respiratory failure, Apnea, Spasticity |
OMIM:616277 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:606658 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Protruding tongue, Inability to walk, Respiratory insufficiency, Dysphagia, Pulm... |
ORPHA:258 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Gait disturbance |
OMIM:612020 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Difficulty walking, Nocturnal hypoventilation |
OMIM:603689 |
Crome Syndrome |
|
Cerebellar dysplasia |
OMIM:218900 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration |
ORPHA:2772 |
Hemimegalencephaly |
|
Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology |
ORPHA:99802 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure, Frequent falls, Torticollis, Abnormal palate morphology |
ORPHA:75840 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Somatic sensory dysfunction, Paraplegia |
ORPHA:71211 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Hyperkinetic movements, Gait disturbance, Upper limb spasticity, High palate, Abnormal re... |
ORPHA:457240 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Olivopon... |
ORPHA:370959 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Facial palsy, Restrictive ventilatory defect, Respiratory fail... |
ORPHA:98913 |
Myopathy With Extrapyramidal Signs |
|
Hyperactivity, Tented upper lip vermilion, Ataxia, Clonus, Tremor, Chorea, Perisylvian polymicrog... |
OMIM:615673 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Decreased nerve conduction velocity, Tachypnea, Degeneration of anterior horn cells, Respiratory ... |
OMIM:604320 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Cerebellar atrophy, Optic atrophy, Respiratory insufficiency, Respiratory failure, Cerebellar hyp... |
OMIM:618329 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in infancy, Dandy-Walker malformation, Subcortical heterotopia, Agyria, Hydr... |
OMIM:614643 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy, Chia... |
OMIM:207950 |
Snakebite Envenomation |
|
Epistaxis, Paralysis, Neuromuscular dysphagia, Respiratory failure, Pseudobulbar paralysis, Respi... |
ORPHA:449285 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Respiratory failure, Cerebellar hypoplasia |
ORPHA:3240 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Death in infancy, Cerebellar hypoplasia |
OMIM:613730 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Optic disc pallor, Respiratory failure |
OMIM:618240 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Neonatal death, Pu... |
OMIM:265120 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Respiratory failure, Nocturnal hypoventilation |
OMIM:620326 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Isolated Childhood Apraxia Of Speech |
|
Speech apraxia, High, narrow palate, Submucous cleft hard palate, Poor gross motor coordination, ... |
ORPHA:209908 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Opisthotonus, Respiratory failure, Hy... |
OMIM:619847 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Focal polymicrogyria, Submucous cleft hard palate, Thick lower lip vermilion,... |
OMIM:619103 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Cleft soft palate, Spina bifida, Lissencephaly, Limb hypertonia |
ORPHA:99742 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormality of neuronal migration |
OMIM:300957 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... |
ORPHA:178320 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal death, Neonatal respiratory distress, Respiratory failure, Respiratory insufficiency |
OMIM:245400 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Spastic tetraparesis, Respiratory insufficiency, Opisthotonus, Respiratory failure, Abnormality o... |
OMIM:605711 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia |
OMIM:619101 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... |
OMIM:610921 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, High, narrow palate, Wide mouth, Abnormal upper lip morphology, Re... |
ORPHA:2707 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Recurrent pneumonia, Cereb... |
OMIM:617751 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Dyspnea, Res... |
ORPHA:2759 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Anorexia |
OMIM:619386 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Anorexia, Paralysis, Inability to walk, Parap... |
ORPHA:2912 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m... |
ORPHA:101030 |
Niemann-Pick Disease, Type C2 |
|
Neonatal respiratory distress, Ataxia, Respiratory insufficiency, Respiratory failure, Dysphagia,... |
OMIM:607625 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Polymicrogyria, Spasticity, Opisthotonus |
OMIM:610678 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Velopharyngeal in... |
ORPHA:199306 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Apnea, Ataxia, Dyspnea, Optic atrophy, Megalopapilla, Res... |
OMIM:615636 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Hypoplasia of the pons, Polymicrogyria, Cerebellar hypoplasia, Neonatal death |
OMIM:615501 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
Niemann-Pick Disease Type C |
|
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Compulsive behaviors, Aspiratio... |
ORPHA:646 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Pachygyria, Hydrocephalus, Submucous cleft hard palate, Abnormality o... |
ORPHA:899 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level |
ORPHA:70578 |
Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Akinesia |
OMIM:607598 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Productive cough, Hydrocephalus, Wheezing, Bronchiectasis, Respira... |
ORPHA:244 |
Leigh Syndrome |
|
Cerebellar atrophy, Ataxia, Involuntary movements, Chorea, Spastic diplegia, Dysphagia, Choreoath... |
ORPHA:506 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:454836 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis |
OMIM:620296 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Respiratory failu... |
OMIM:220110 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Dyspnea, Inability to walk, Cardiorespiratory arrest, Gray matter heterotopia, Respiratory failur... |
ORPHA:26791 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration |
ORPHA:2518 |
Mercury Poisoning |
|
Respiratory distress, Anorexia, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Respiratory failure, Stillbirth, Tongue fasciculations, Myoclonus, Neonatal death, Pachygyria |
OMIM:614922 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Orbital encephalocele, Dandy-Walker malformation |
OMIM:164180 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoplasia of the pons, Respiratory failure, Cerebellar hypoplasia |
ORPHA:88618 |
Immunodeficiency 54 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... |
OMIM:618779 |
Bilateral Perisylvian Polymicrogyria |
|
Lower limb spasticity, Cerebellar vermis hypoplasia, Apnea, Protruding tongue, Paraparesis, Oromo... |
ORPHA:98889 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Decreased distal sensory nerve action potential, Intercostal muscle... |
OMIM:606071 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough |
ORPHA:99931 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... |
ORPHA:449280 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Pachygyria, Cerebellar hypoplasia, Periventricular heterotopia |
ORPHA:255138 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Hydrocephalus, Respiratory failure, Neonatal death, Pulmonar... |
OMIM:616482 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... |
OMIM:620107 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, Widely spaced te... |
OMIM:619950 |
Desmosterolosis |
|
Abnormal cortical gyration, Intestinal malrotation, Pachygyria, Rigidity, Hydrocephalus, Submucou... |
ORPHA:35107 |
Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Abnormal cortical gyration, Spina bifida, Pachygyria, Submucous clef... |
ORPHA:2671 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Cerebellar atrophy, Broad-based gait, Poor coordination, Abnormal pyramidal sign, Submucous cleft... |
OMIM:618891 |
Birk-Barel Syndrome |
|
Tented upper lip vermilion, High palate, Short philtrum, Dysphagia, Submucous cleft soft palate, ... |
OMIM:612292 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure, High palate, Orofacial cleft |
OMIM:618804 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Apnea, Clonus, Respiratory failure, Hypertonia, Dysphagia |
OMIM:617301 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Incoordination, Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High... |
OMIM:618106 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Vici Syndrome |
|
Hypoplasia of the pons, Gray matter heterotopia, Cerebellar hypoplasia, Death in infancy |
ORPHA:1493 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperactivity, Ataxia, Hypoplastic philtrum, Simplified gyral pattern, Enlarged cerebellum |
OMIM:620047 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Dysesthesia, ... |
ORPHA:79138 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Optic disc pallor, Respiratory insufficiency due to muscle weakness, Unstea... |
OMIM:615512 |
Lhermitte-Duclos Disease |
|
Ataxia, Hydrocephalus, Macroglossia, Polymicrogyria, Enlarged cerebellum |
ORPHA:65285 |
Hydrolethalus |
|
Hydrocephalus, Submucous cleft hard palate, Anencephaly, Gingival cleft, Cleft palate, Unilateral... |
ORPHA:2189 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Wide mouth, Respiratory failure, Short philtrum |
ORPHA:1194 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Neonatal respiratory distress, Apnea, Abnormality of neuronal migration, Respiratory insufficienc... |
OMIM:608836 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Thin upper lip vermilion, Torticollis, Aggressive behavior, Tremor, Submucous cle... |
OMIM:619680 |
Infantile Krabbe Disease |
|
Respiratory distress, Lower limb spasticity, Spastic diplegia, Opisthotonus, Ankle clonus, Respir... |
ORPHA:206436 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Optic disc pallor, Apnea, Ataxia, Optic neuropathy, Respiratory insufficiency... |
OMIM:252010 |
Abetalipoproteinemia |
|
Impaired vibratory sensation, Broad-based gait, Ataxia, Impaired distal proprioception, Babinski ... |
ORPHA:14 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Tented upper lip vermilion, Pneumonia, Abnormal respiratory system physiology, Respiratory failur... |
ORPHA:98905 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
Riddle Syndrome |
|
Ataxia, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Clumsiness, Restrictive ventilatory de... |
ORPHA:420741 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... |
OMIM:616331 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Widely spaced teeth, Respiratory insufficiency |
OMIM:135100 |
Joubert Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Po... |
ORPHA:475 |
Arthrogryposis, Distal, Type 3 |
|
Submucous cleft hard palate, Cleft palate, Chiari type I malformation, High palate, Bifid uvula |
OMIM:114300 |
Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Lissencephaly, Cerebellar hypoplasia, Dandy-Walker malfor... |
OMIM:617822 |
Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Periventricular heterotopia, Alobar holoprosencephaly, Aqueductal stenosis, P... |
OMIM:619895 |
Osteopetrosis, Autosomal Recessive 5 |
|
Clonus, Hydrocephalus, Spastic tetraplegia, Gingival overgrowth, Respiratory failure, Hypertonia,... |
OMIM:259720 |
Native American Myopathy |
|
Inability to walk, Respiratory insufficiency, Cleft palate, Downturned corners of mouth, High pal... |
ORPHA:168572 |
Mitochondrial Trifunctional Protein Deficiency |
|
Babinski sign, Respiratory insufficiency, Respiratory failure, Tip-toe gait, Frequent falls |
ORPHA:746 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Ataxia, Aggressive behavior, Pyloric stenosis, Unsteady gait, Submucous... |
ORPHA:457279 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Long philtrum |
OMIM:617895 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Submucous cleft hard palate, Bifid uvula |
OMIM:619239 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Polymicrogyria, Cerebellar hypoplasia |
OMIM:617397 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lower limb spasticity, Narrow mouth, Pierre-Robin sequence, Gingival overgrowth, Triangular mouth... |
OMIM:300868 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Encephalocele, Cleft upper lip, Partial absence of cerebellar vermis, Hydro... |
OMIM:613150 |
Severe Congenital Nemaline Myopathy |
|
Facial diplegia, Respiratory failure, Facial palsy |
ORPHA:171430 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormality of neuronal migration, Cerebellar vermis atrophy, Abnormal neuron morphology |
ORPHA:163681 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormality of neuronal migration |
ORPHA:2318 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... |
OMIM:617412 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, High, narrow palate, Downturned corners of mouth, Respiratory fail... |
ORPHA:3015 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ataxia, Dental crowding, Impulsivity, Aggressive behavior, Tremor, High, narrow p... |
OMIM:300967 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Thin upper lip vermilion, High, narrow palate, Hydrocephalus, Submucous cle... |
OMIM:612863 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Inability to w... |
ORPHA:365 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria |
ORPHA:2512 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Respiratory failure, High palate, Chylothorax, Dysphagia |
OMIM:620278 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency, Submucous cleft h... |
OMIM:614701 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Clonus, Tremor, Hypopnea, Respiratory failure, Hypertonia, Dysphagia, Neonatal death, Resp... |
OMIM:617248 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, Long philtrum, Triangular m... |
OMIM:618529 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ... |
ORPHA:2712 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:93274 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure |
ORPHA:542323 |
1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Thick vermilion border, Holoprosencephaly, Cleft palate |
ORPHA:250999 |
47,Xyy Syndrome |
|
Hyperactivity, Impulsivity, Asthma, Hydrocephalus, Attention deficit hyperactivity disorder, Dysg... |
ORPHA:8 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Abnormality of neuronal migration |
ORPHA:1895 |
3C Syndrome |
|
Death in infancy, Hydrocephalus, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cer... |
ORPHA:7 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebellar vermis hypoplasia, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polym... |
ORPHA:157 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Ataxia, Optic neuropathy, Dyspnea, Optic atrophy, Respiratory insufficiency, Respiratory failure |
OMIM:610505 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure |
ORPHA:3226 |
Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum |
OMIM:614526 |
Buratti-Harel Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent pneumonia, High palate, Bifi... |
OMIM:619314 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Gray matter heterotopia, Neonatal death, Pa... |
OMIM:620024 |
Congenital Disorder Of Deglycosylation 2 |
|
Cerebellar vermis hypoplasia, Gray matter heterotopia, Polymicrogyria |
OMIM:619775 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia |
OMIM:601374 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate |
OMIM:620183 |
Boutonneuse Fever |
|
Respiratory failure |
ORPHA:83313 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Apnea, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, ... |
ORPHA:2751 |
Schilbach-Rott Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Attention deficit hyperactivity disorder, Narrow mouth |
OMIM:164220 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Deep philtrum, Recurrent pneumonia, Non-midline cleft lip, Abnormality of neuronal... |
ORPHA:647 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia |
ORPHA:3201 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, High, narrow palate, Submucous cleft hard palate, Cleft palate, Re... |
ORPHA:2554 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
Congenital Fiber-Type Disproportion Myopathy |
|
Dental crowding, Hypercapnia, Respiratory insufficiency due to muscle weakness, Dysphagia, Hypoxe... |
ORPHA:2020 |
Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:617201 |
Glutathionuria |
|
Gray matter heterotopia |
OMIM:231950 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, P... |
ORPHA:100050 |
Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:601492 |
Cerebrocostomandibular Syndrome |
|
Neonatal respiratory distress, Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre... |
OMIM:117650 |
Costello Syndrome |
|
Hydrocephalus, Pneumothorax, Respiratory insufficiency, Chiari type I malformation, Respiratory f... |
OMIM:218040 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Type II liss... |
OMIM:615287 |
W Syndrome |
|
Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Spasticity, Uppe... |
ORPHA:2804 |
Geleophysic Dysplasia 3 |
|
Pneumonia, Dyspnea, Respiratory failure, Thick vermilion border, Long philtrum |
OMIM:617809 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Respiratory failure, Cleft palate |
ORPHA:158687 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... |
OMIM:615582 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate |
ORPHA:166016 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogy... |
ORPHA:2211 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea |
ORPHA:555874 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Hiatus hernia, Dyspnea, Pyloric stenosis, Cardiorespiratory arrest, Respira... |
ORPHA:3342 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Simplified gyral pattern, Spasticity, Cleft palate, Downturned corners of mouth, Respiratory fail... |
ORPHA:500150 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal mig... |
ORPHA:1454 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Unilateral vocal cord paresis, Bifid uvula, Spinal dysraphism |
OMIM:617660 |
Malignant Atrophic Papulosis |
|
Intestinal fistula, Pain insensitivity, Intestinal perforation, Respiratory failure, Pleural effu... |
ORPHA:679 |
Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Tented upper lip vermilion, Intestinal pseudo... |
ORPHA:273 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure |
OMIM:614862 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cerebellar vermis hypoplasia, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polym... |
ORPHA:228308 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, High, narrow palate, Submucous cleft hard palate, Cleft palate, Spina ... |
ORPHA:2780 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Anal atresia, Agyria, Type II lissencephaly, Cleft upper lip, Meningoenc... |
OMIM:236670 |
Cardiofaciocutaneous Syndrome 1 |
|
Abnormality of the dentition, Open bite, Hydrocephalus, Submucous cleft hard palate, Tongue thrus... |
OMIM:115150 |
Myhre Syndrome |
|
Thin upper lip vermilion, Ataxia, Cleft lip, Respiratory insufficiency, Cleft palate, Respiratory... |
OMIM:139210 |
Tetrasomy 18P |
|
Abnormality of neuronal migration |
ORPHA:3307 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia |
OMIM:619694 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia, Hydrocephalus |
ORPHA:2655 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Macroglossia, Respiratory failure, Exaggerated cupid's bow, Open mouth |
ORPHA:254528 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Ataxia, Cleft soft palate, Aggressive behavior, Pyloric stenosis, Supernumerary... |
ORPHA:268261 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Gray matter heterotopia, Hydrocephalus |
OMIM:187600 |
Coffin-Lowry Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Death in early adulthood, Abnormality of neuronal migration |
ORPHA:192 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Attention deficit hyp... |
OMIM:619227 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha... |
ORPHA:805 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration |
ORPHA:44 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Cleft soft palate, Intestinal malrotation, Hydrocephalus, Downturned corners of mouth, Smooth phi... |
OMIM:619321 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Li... |
OMIM:615219 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... |
ORPHA:1071 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Abnormality of the dentition, Malabsorption, Asthma, Hy... |
ORPHA:235 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... |
OMIM:608670 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Chiari type I malformation, Sho... |
ORPHA:261537 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Apnea, Dental crowding, Deep philtrum, Downturned corners of mouth, High palate, Aspiration, Neon... |
OMIM:619503 |
Orofaciodigital Syndrome Type 10 |
|
Cleft soft palate, Accessory oral frenulum, Long philtrum |
ORPHA:2756 |
Listeriosis |
|
Respiratory distress, Somatic sensory dysfunction, Ataxia, Pneumonia, Tremor, Hemiparesis, Respir... |
ORPHA:533 |
Cree Mental Retardation Syndrome |
|
Cleft soft palate |
OMIM:606851 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo... |
ORPHA:31204 |
Double Outlet Right Ventricle |
|
Intestinal malrotation, Submucous cleft hard palate, Tachypnea, Cleft palate, Narrow mouth |
ORPHA:3426 |
Stickler Syndrome, Type I |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate, Pierre-Robin sequence |
OMIM:108300 |
Marden-Walker Syndrome |
|
Narrow mouth, Hydrocephalus, Submucous cleft hard palate, Pyloric stenosis, Cleft palate, Cerebel... |
ORPHA:2461 |
Galloway-Mowat Syndrome |
|
Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration |
ORPHA:2065 |
Bloom Syndrome |
|
Pneumonia, Esophageal neoplasm, Chronic pulmonary obstruction, Cheilitis, Respiratory failure, Rh... |
ORPHA:125 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate |
ORPHA:93316 |
Mowat-Wilson Syndrome |
|
Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Widely spaced teeth, Abnormal r... |
ORPHA:2152 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Neonatal death, Gray matter heterotopia, Polymicrogyria |
OMIM:614887 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypoxemia, Pulmonary arterial hypertension, Cleft soft palate, Submucous cleft soft palate |
ORPHA:2282 |
6Q Terminal Deletion Syndrome |
|
Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Cerebell... |
ORPHA:75857 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Short philtrum, Cleft soft palate, Smooth philtrum |
ORPHA:293725 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Rigidity, Dyspnea, Submucous cleft hard palate, Cleft palate, Respiratory failure, Hypertonia, Th... |
ORPHA:2636 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip |
OMIM:619122 |
8Q22.1 Microdeletion Syndrome |
|
Long philtrum, Submucous cleft hard palate, Abnormality of the dentition |
ORPHA:178303 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft hard palate, Submucou... |
OMIM:300990 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Alobar holoprosencephaly, Submucous cleft hard palate, Cleft palate, Semilobar ... |
OMIM:301043 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Agitation, Cough, Pleur... |
ORPHA:340 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Intestinal malrotation, Tachypnea, Esophageal varix, Respiratory insufficiency, Respiratory failu... |
OMIM:613658 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Chiari type I malformation, Sho... |
ORPHA:261552 |
Velocardiofacial Syndrome |
|
Aggressive behavior, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequ... |
OMIM:192430 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Tachypnea, Tetraplegia, Respiratory insufficiency, Respiratory failure, Myoclonus |
OMIM:618278 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Waddling gait, Cleft soft palate |
OMIM:614557 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula |
ORPHA:69085 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Rectal atresia, Respiratory failure, Narrow mouth, Anal atresia |
OMIM:617666 |
Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Neonatal respiratory distress, Apnea, Spina bifida, Ca... |
OMIM:114290 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Abnormality of neuronal migration |
ORPHA:2754 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Erosion of oral mucosa, Pneumonia, Abnormal oral mucosa morphology, Dyspnea... |
ORPHA:79404 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Deep philtrum, Spinal dysraphism, Restrictive ventilatory defect, Res... |
ORPHA:96334 |
Acromelic Frontonasal Dysostosis |
|
Retrocerebellar cyst, Gray matter heterotopia, Periventricular nodular heterotopia, Encephalocele |
OMIM:603671 |
Cerebrofacioarticular Syndrome |
|
Gray matter heterotopia, Cerebellar vermis hypoplasia |
ORPHA:314679 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Submucous cleft hard palate, High palate |
OMIM:222765 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Hydrocephalus |
OMIM:219730 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Spina bifida, Gray matter heterotopia, Chiari malformation, Pachygy... |
OMIM:304050 |
Wiedemann-Rautenstrauch Syndrome |
|
Natal tooth, Thin upper lip vermilion, Ataxia, Action tremor, Tremor, Narrow mouth, Hydrocephalus... |
ORPHA:3455 |
Zttk Syndrome |
|
Abnormality of the dentition, Submucous cleft hard palate, Downturned corners of mouth, Thin verm... |
OMIM:617140 |
Myhre Syndrome |
|
Submucous cleft hard palate, Cleft palate, Gingival cleft, Abnormal lip morphology, Thin vermilio... |
ORPHA:2588 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Dyspnea, Hydrocephalus, Respiratory failure |
ORPHA:2556 |
Orofaciodigital Syndrome Type 4 |
|
Median cleft lip, Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiv... |
ORPHA:2753 |
Branchiogenic-Deafness Syndrome |
|
Submucous cleft hard palate |
OMIM:609166 |
Viss Syndrome |
|
Chronic gastritis, Broad uvula, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous ... |
OMIM:619472 |
Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia, Hydrocephalus |
ORPHA:1860 |
Holoprosencephaly 2 |
|
Median cleft lip and palate, Alobar holoprosencephaly, Submucous cleft hard palate, Bilateral cle... |
OMIM:157170 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Hyperactivity, Carious teeth, Velopharyngeal insufficiency, Submucous ... |
OMIM:223370 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Recurrent pneumonia, Esophageal varix, Respiratory fai... |
ORPHA:731 |
Holoprosencephaly |
|
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Spinal dysraphism, Holoprosencep... |
ORPHA:2162 |
Van Maldergem Syndrome 1 |
|
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... |
OMIM:601390 |
Cardiofaciocutaneous Syndrome |
|
Hydrocephalus, Submucous cleft hard palate, High palate, Long philtrum |
ORPHA:1340 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal dental enamel morphology, High, narrow palate, Hydrocephalus, Submucous cleft hard palat... |
ORPHA:2658 |
Arima Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Gray matte... |
OMIM:243910 |
Branchioskeletogenital Syndrome |
|
Unilateral cleft palate, Abnormality of the dentition, Carious teeth, Submucous cleft hard palate... |
ORPHA:1299 |
16P13.11 Microdeletion Syndrome |
|
Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:261236 |
Bohring-Opitz Syndrome |
|
Gray matter heterotopia, Dandy-Walker malformation |
OMIM:605039 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2063 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth |
OMIM:154500 |
Radio-Tartaglia Syndrome |
|
Gray matter heterotopia |
OMIM:619312 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ... |
OMIM:301068 |
Otopalatodigital Syndrome, Type Ii |
|
Spina bifida, Hydrocephalus, Respiratory insufficiency, Cleft palate, Respiratory failure, Stillb... |
OMIM:304120 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Aggressive behavior, Cleft upper lip, Hydrocephalus, Polymicrogyria, Submucous cleft hard palate,... |
OMIM:607872 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Deep philtrum, Submucous cleft hard palate, Thin lower lip vermilion, W... |
OMIM:619194 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cerebellar dysplasia, Hydrocephalus, Everted lower lip vermilion, Cerebellar hypoplasia, Myoclonu... |
OMIM:253280 |
Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cerebellar ... |
OMIM:311200 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Meier-Gorlin Syndrome 5 |
|
Submucous cleft hard palate, Thick vermilion border, Long philtrum |
OMIM:613805 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Gray matter heterotopia, Polymicrogyria, Holoprosencephaly, Chiari malformation |
OMIM:618820 |
Coffin-Siris Syndrome 12 |
|
Celiac disease, Velopharyngeal insufficiency, Enlarged cerebellum, Submucous cleft hard palate, N... |
OMIM:619325 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure |
OMIM:618252 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical ... |
OMIM:210710 |
9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia |
ORPHA:531151 |
Diamond-Blackfan Anemia |
|
Cleft lip, High palate, Cleft soft palate, Adenocarcinoma of the colon |
ORPHA:124 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Periventricular heterotopia, Simplified gy... |
OMIM:615948 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Pneumothorax, Respiratory failure, Thin vermilion border, High palate, Narr... |
ORPHA:3404 |
Alg11-Cdg |
|
Gray matter heterotopia |
ORPHA:280071 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Spina bifida, Meningocele, Abnormality of neuronal migration |
ORPHA:991 |
Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Stillbirth, Severe hydrocephalu... |
OMIM:236680 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia |
OMIM:618797 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har... |
OMIM:300166 |
Miller-Dieker Lissencephaly Syndrome |
|
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria |
OMIM:247200 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Gray matter heterotopia, Polymicrogyria, Death in childhood |
OMIM:214100 |
Vici Syndrome |
|
Gray matter heterotopia, Cerebellar vermis hypoplasia |
OMIM:242840 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia |
OMIM:608624 |
Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia |
OMIM:617563 |
Van Maldergem Syndrome 2 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia |
OMIM:615546 |
Fontaine Progeroid Syndrome |
|
Death in infancy, Cerebellar vermis hypoplasia, Periventricular heterotopia, Hydrocephalus, Gray ... |
OMIM:612289 |
Tolchin-Le Caignec Syndrome |
|
Submucous cleft hard palate, High palate, Attention deficit hyperactivity disorder, Narrow mouth |
OMIM:618971 |
Opitz-Kaveggia Syndrome |
|
Gray matter heterotopia, Hydrocephalus |
OMIM:305450 |
Koolen-De Vries Syndrome |
|
Gray matter heterotopia |
OMIM:610443 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:3186 |
Neuroocular Syndrome |
|
Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Torus... |
OMIM:619539 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Gray matter heterotopia |
ORPHA:453499 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of neuronal migration |
ORPHA:464311 |
Periventricular Nodular Heterotopia 9 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:618918 |
Restrictive Dermopathy 1 |
|
Natal tooth, Submucous cleft hard palate, Stillbirth, Narrow mouth, Neonatal death |
OMIM:275210 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Neoplasm of the tongue, Submucous cleft hard palate, Bifid uvula |
ORPHA:3047 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Gray matter heterotopia |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Gray matter heterotopia |
ORPHA:352665 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia |
OMIM:276300 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ... |
OMIM:235730 |
Restrictive Dermopathy |
|
Natal tooth, Submucous cleft hard palate, Microcolon, Narrow mouth |
ORPHA:1662 |
Proteus Syndrome |
|
Gray matter heterotopia |
ORPHA:744 |