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Gene: Skor2 MGI:3645984

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
SKI family transcriptional corepressor 2
Synonyms:
Gm7348,  Corl2,  Fussel18

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Skor2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Skor2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Skor2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Skor2.

No publications found that use IMPC mice or data for Skor2.

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