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:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Lissencephaly 1
Pachygyria, Gray matter heterotopia, Cerebellar hypoplasia, Agyria, Subcortical band heterotopia,... OMIM:607432
Chudley-Mccullough Syndrome
Gray matter heterotopia, Cerebellar dysplasia, Cerebellar hypoplasia, Polymicrogyria, Hydrocephalus OMIM:604213
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Spinocerebellar Ataxia Type 5
Gait disturbance, Cerebellar atrophy ORPHA:98766
Spinocerebellar Ataxia 41
Unsteady gait, Cerebellar atrophy, Ataxia OMIM:616410
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebellar atrophy, Broad-based gait OMIM:605388
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:617769
Spinocerebellar Ataxia 37
Tremor, Dysphagia, Ataxia, Unsteady gait, Cerebellar atrophy, Frequent falls OMIM:615945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Cerebellar atrophy, Truncal ataxia OMIM:615268
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia, Cerebellar vermis atrophy ORPHA:211017
Spinocerebellar Ataxia 11
Cerebellar atrophy OMIM:604432
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Abnormal cerebellum morphology, Abnormal neuron morphology, Simplified gyral pattern ORPHA:329228
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Pachygyria OMIM:614173
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617133
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Progressive spastic paraplegia, Ataxia, Somatic sensory dysfunction, ... ORPHA:101010
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Cerebellar hypoplasia OMIM:618572
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Ataxia, Respiratory insufficiency, Cerebellar atrophy, Respiratory failure OMIM:610127
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Tremor, Dyspnea, Dysphagia, Cough, Respiratory failure requiring assisted vent... ORPHA:90117
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:615957
Lissencephaly 3
Pachygyria, Gray matter heterotopia, Cerebellar vermis hypoplasia, Polymicrogyria, Agyria, Lissen... OMIM:611603
Spinocerebellar Ataxia 30
Cerebellar atrophy OMIM:613371
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:117210
Pontocerebellar Hypoplasia, Type 1C
Cerebellar vermis hypoplasia, Respiratory failure, Respiratory insufficiency OMIM:616081
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Diaphragmatic paralysis, Respiratory distress, Dysphagia, Respira... OMIM:614399
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Cerebellar hypoplasia, Periventricular ribbonlike heterotopia, Lissencephaly, Hypoplasia of the pons OMIM:618677
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Myasthenic Syndrome, Congenital, 18
Difficulty walking, Ataxia, Respiratory insufficiency OMIM:616330
Glaucoma-Sleep Apnea Syndrome
Sleep apnea, Respiratory insufficiency ORPHA:2085
Spinocerebellar Ataxia Type 38
Difficulty walking, Cerebellar atrophy, Gait ataxia ORPHA:423296
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Dystonia With Cerebellar Atrophy
Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Cerebellar atrophy, Torticollis OMIM:611694
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Cerebellar hypoplasia, Spasticity, Loss of Purkinje cells in the cerebellar vermis, R... OMIM:225753
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Recurrent aspiration pneumonia, Tremor, Clumsiness, Difficulty walking, Dyspha... ORPHA:2590
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Cerebellar hypoplasia, Dysgyria, Hydrocephalus ORPHA:352682
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Central apnea, Respiratory insufficiency OMIM:611722
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebellar atrophy, Pachygyria, Polymicrogyria, Lissencephaly OMIM:618730
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Dysphagia, Gait disturbance, Chorea, Slurred speec... ORPHA:98755
Lissencephaly 4
Cerebellar hypoplasia, Lissencephaly, Simplified gyral pattern OMIM:614019
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, Abnormal respiratory system physiology, Dysphagia, Reduced maximal inspiratory... ORPHA:266
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Optic atrophy, Ataxia OMIM:614706
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... OMIM:117360
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Polymicrogyria, Respiratory failure, Cerebellar hypoplasia, Respiratory insufficiency due to musc... OMIM:618291
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Gray matter heterotopia, Agyria, Subcortical band heterotopia, Lissencephaly OMIM:615411
Neurodegeneration With Brain Iron Accumulation 8
Loss of ability to walk, Ataxia, Unsteady gait, Cerebellar atrophy, Dysmetria OMIM:617917
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Tremor, Respiratory failure, Ataxia OMIM:618637
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Gait ataxia ORPHA:217012
Spinocerebellar Ataxia, Autosomal Recessive 15
Unsteady gait, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:615705
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Simplified gyral pattern, Ataxia, Hyperactivity OMIM:613402
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Optic atrophy OMIM:614322
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Pachygyria, Agyria, Subcortical band heterotopia, Gray matter heterotopia OMIM:615412
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Pontocerebellar Hypoplasia, Type 1E
Respiratory failure requiring assisted ventilation, Cerebellar hypoplasia, Cerebellar atrophy, Op... OMIM:619303
Leukodystrophy, Hypomyelinating, 14
Cerebellar atrophy, Respiratory insufficiency, Dystonia OMIM:617899
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Pachygyria, Cerebellar hypoplasia, Neonatal respiratory distress, Cer... ORPHA:168486
Leukodystrophy, Hypomyelinating, 11
Tremor, Abnormality of the dentition, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Gray matter heterotopia, Abnormality of neuronal migration, Polymicrogyria, Simplifie... OMIM:604317
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Narrow palate, Hypertonia, Intention tremor, Ataxia, Tented upper lip vermil... OMIM:616505
Dystonia 23
Axial dystonia, Gait disturbance, Writer's cramp, Cerebellar atrophy, Torticollis, Limb dystonia OMIM:614860
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Unsteady gait, Cerebellar atrophy, Lower limb sp... OMIM:616948
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Diffuse cerebellar atrophy, Trunca... ORPHA:363710
Congenital Muscular Dystrophy With Intellectual Disability
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Loss of ability to walk, Respiratory insuffi... ORPHA:370968
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Giant somatosensory evoked potentials, Ataxia OMIM:618876
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Limb ataxia, Gait disturbance, Dysphagia, Ataxia, Cerebellar atrophy, Unsteady gait ORPHA:284271
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Holoprosencephaly, Abnormality of neuronal mi... ORPHA:945
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Abnormal anterior horn cell morphology, Dystonia, Difficulty walking, Respirat... OMIM:611890
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Cerebellar hypoplasia ORPHA:171703
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Cerebellar atrophy, Torticollis, Dysmetria, Intention... OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Dysphagia, Oculomotor apraxia, Ataxia, Ce... OMIM:617633
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetria OMIM:616291
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Inability to walk, Cerebellar atrophy, Optic atrophy, Respiratory insufficiency OMIM:618324
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Lethargy, Respiratory failure, Respiratory insufficiency OMIM:605711
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dys... ORPHA:423275
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Cerebellar atrophy, Gait ataxia OMIM:617915
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Dysphagia, Progress... OMIM:607346
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dysmetria, Inten... OMIM:616053
Neurodegeneration With Brain Iron Accumulation 7
Dysphagia, Loss of ability to walk, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity OMIM:617916
Pontocerebellar Hypoplasia, Type 1A
Cerebellar hypoplasia, Degeneration of anterior horn cells, Ataxia, Respiratory insufficiency, Hy... OMIM:607596
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency OMIM:253300
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Spinocerebellar Ataxia 46
Limb ataxia, Cerebellar atrophy, Gait ataxia, Dysmetria OMIM:617770
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Pachygyria, Cerebellar hypoplasia, Cerebellar at... OMIM:224050
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia OMIM:616187
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar dysplasia, ... OMIM:613153
Band Heterotopia
Polymicrogyria, Subcortical band heterotopia, Hydrocephalus, Gray matter heterotopia OMIM:600348
Lissencephaly, X-Linked, 1
Pachygyria, Gray matter heterotopia, Death in infancy, Agyria, Lissencephaly OMIM:300067
Lissencephaly 5
Type II lissencephaly, Gray matter heterotopia, Cerebellar vermis hypoplasia, Cerebellar hemisphe... OMIM:615191
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysphagia, Chorea, Abnormal pyramidal sign, Bradykinesia, Ataxia, Abnormal cerebellum m... OMIM:618317
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Cerebellar atrophy, Dysmetria, Hyperactivity OMIM:618090
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria OMIM:613728
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Poretti-Boltshauser Syndrome
Gray matter heterotopia, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Dil... OMIM:615960
Behr Syndrome
Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Optic atrophy OMIM:210000
Spastic Paraplegia 81, Autosomal Recessive
Inability to walk, Upper limb spasticity, Ankle clonus, Lower limb spasticity, Babinski sign, Cle... OMIM:618768
Neurodegeneration With Brain Iron Accumulation
Cerebellar atrophy, Optic atrophy, Dystonia ORPHA:385
Spinocerebellar Ataxia, Autosomal Recessive 16
Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Cerebellar atrophy, Unsteady gait OMIM:615768
Lissencephaly 2
Cerebellar hypoplasia, 4-layered lissencephaly, Lissencephaly, Hypoplasia of the pons OMIM:257320
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity OMIM:608029
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Tetraparesis, Hemiparesis, Ankle clonus, Respiratory failure, Tongue fasciculations OMIM:600561
Mitochondrial Complex I Deficiency, Nuclear Type 2
Difficulty walking, Apnea, Dystonia, Respiratory insufficiency OMIM:618222
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cerebellar hypoplasia, Ataxia, Truncal ataxia OMIM:617584
Spinocerebellar Ataxia 44
Dysdiadochokinesis, Gait ataxia, Dysphagia, Ataxia, Cerebellar atrophy, Dysmetria, Frequent falls... OMIM:617691
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar atrophy, Optic atrophy, Respiratory failure, Respiratory insufficiency OMIM:618329
Spinocerebellar Ataxia 14
Gait ataxia, Progressive cerebellar ataxia, Cerebellar atrophy, Focal dystonia, Dysmetria, Attent... OMIM:605361
Lethal Osteosclerotic Bone Dysplasia
Median cleft lip and palate, Gingival fibromatosis, Dyspnea, Respiratory distress, Respiratory fa... ORPHA:1832
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Cerebellar atrophy, Progressive gait ataxia, Dysmetria OMIM:607458
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Central hypoventilation, Ataxia, Respiratory failure, Dysmetria, Optic atrophy OMIM:618233
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Difficulty walking, Cerebellar hypoplasia, Ataxia, Lower limb spasticity, Macr... ORPHA:280210
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Hypertonia, Ataxia, Respiratory insufficiency, Cleft palate, Cerebellar atrop... OMIM:618356
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Inability to walk, Cerebellar atrophy, Optic atrophy OMIM:617086
Joubert Syndrome 30
Cerebellar atrophy, Gray matter heterotopia, Dandy-Walker malformation, Superior cerebellar dyspl... OMIM:617622
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar cyst, Cerebellar atrophy, Pachygyria, Gray matter heterotopia ORPHA:370980
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Dyspnea, Progressive cerebellar ataxia, Cerebellar atrophy, Dysmetria OMIM:606183
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Difficulty walking, Dysphagia, Ventilator dependence with inability to wean... ORPHA:254875
Intermediate Nemaline Myopathy
Long philtrum, Difficulty walking, Dysphagia, Respiratory failure, High, narrow palate ORPHA:171433
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Abnormality of extrapyramidal motor function, Ataxia, Respiratory insufficiency, Respir... OMIM:614299
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Muscular Dystrophy, Congenital, 1B
Facial palsy, Respiratory failure OMIM:604801
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Optic atrophy, Respiratory failure OMIM:619057
Mental Retardation, Autosomal Dominant 13
Pachygyria, Cerebellar hypoplasia, Abnormality of neuronal migration OMIM:614563
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Dysphagia, Abnormal pyramidal sign, Ataxia, Respiratory insufficiency, Unsteady gait, Cerebellar ... OMIM:616479
3-Methylglutaconic Aciduria, Type Iv
Neonatal respiratory distress, Cerebellar dysplasia OMIM:250951
Spinocerebellar Ataxia Type 26
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar a... ORPHA:101112
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ataxia, Progr... ORPHA:284324
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Polymicrogyr... OMIM:615181
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Degeneration of anterior horn cells, Respiratory insufficiency OMIM:600333
Spinocerebellar Ataxia, Autosomal Recessive 8
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Dysmetria OMIM:610743
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Dysphagia, Impaired vibration sensation at ankles, Abnormal pyramidal sig... OMIM:616795
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Inability to walk, Dysphagia, Respiratory insufficiency OMIM:616321
Spinocerebellar Ataxia 23
Limb ataxia, Cerebellar atrophy, Gait ataxia, Dysmetria OMIM:610245
Polymicrogyria Due To Tubb2B Mutation
Pachygyria, Gray matter heterotopia, Cerebellar atrophy, Polymicrogyria, Perisylvian polymicrogyr... ORPHA:300573
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Progressive spastic paraparesis, Ankle clonus, Cleft palate, Babinski s... ORPHA:506353
Hyperekplexia 4
High palate, Hypertonia, Respiratory failure, Myoclonus OMIM:618011
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Gait ataxia, Difficulty walking, Cerebellar atrophy, Cerebellar vermis atrophy, Broad-based gait ORPHA:512260
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Ataxia, Cerebellar atrophy, Cerebellar vermis at... OMIM:616204
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration ORPHA:101029
Nemaline Myopathy 8
Facial palsy, Respiratory failure OMIM:615348
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Cerebellar atrophy, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Cere... OMIM:609270
Spinocerebellar Ataxia 26
Limb ataxia, Cerebellar atrophy, Gait ataxia, Truncal ataxia OMIM:609306
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration OMIM:618709
Spinocerebellar Ataxia, Autosomal Recessive 11
Truncal ataxia, Dysphagia, Limb ataxia, Ataxia, Cerebellar atrophy OMIM:614229
Cleft Velum
Cleft soft palate, Aspiration pneumonia, Velopharyngeal insufficiency, Oral-pharyngeal dysphagia ORPHA:99772
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Inability to walk, Cerebellar dysplasia, Facial palsy, Cerebellar hypoplasia OMIM:613155
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Ataxia, Dystonia OMIM:616267
Joubert Syndrome 23
Tachypnea, Apnea, Cerebellar dysplasia OMIM:616490
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Gait ataxia, Retrocerebellar cyst, Ataxia, Dilated fourth ... OMIM:614831
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Spinocerebellar Ataxia Type 8
Dystonia, Gait ataxia, Impaired vibratory sensation, Limb ataxia, Dysphagia, Spasticity, Ataxia, ... ORPHA:98760
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Dystonia, Lethargy, Ataxia, Respiratory insufficiency, Cerebellar atrophy, Optic atrophy OMIM:618226
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Ataxia, Resp... ORPHA:363400
Lissencephaly 6 With Microcephaly
Pachygyria, Periventricular heterotopia, Cerebellar atrophy, Polymicrogyria, Simplified gyral pat... OMIM:616212
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Gait ataxia, Limb ataxia, Gait disturbance, Abnormal cerebellum mor... OMIM:617145
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Abnormal cerebellum morphology, Gait imbalanc... ORPHA:101070
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Dysmetria OMIM:615386
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy, Gait disturbance, Ataxia, Respiratory failure, Optic disc pallor OMIM:615838
Myasthenic Syndrome, Congenital, 21, Presynaptic
Difficulty walking, Apnea, Facial palsy, Respiratory insufficiency OMIM:617239
Leber Congenital Amaurosis
Aplasia/Hypoplasia of the cerebellar vermis, Abnormality of neuronal migration ORPHA:65
Adducted Thumbs Syndrome
Dysphagia, Respiratory insufficiency, Cleft palate, High palate, High, narrow palate, Velopharyng... OMIM:201550
Spinocerebellar Ataxia Type 36
Truncal ataxia, Difficulty walking, Limb ataxia, Dysphagia, Head tremor, Ataxia, Tongue fascicula... ORPHA:276198
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Gait ataxia, Limb ataxia, Cough, Abnormal autonomic nervous system physiology, Ataxia, Cerebellar... OMIM:614575
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Polymicrogyria, Respiratory failure, Spastic tetraplegia, High palate OMIM:615330
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Hydrocephalus, Cleft palate OMIM:258320
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Hypercapnia, Respiratory failure, Respiratory insufficiency OMIM:267480
3-Methylglutaconic Aciduria, Type Viii
Apnea, Dystonia, Tremor, Hypertonia, Respiratory failure OMIM:617248
Spinocerebellar Ataxia 13
Gait ataxia, Limb dysmetria, Limb ataxia, Progressive cerebellar ataxia, Cerebellar atrophy, Opti... OMIM:605259
Vacterl Association With Hydrocephalus
Stillbirth, Aqueductal stenosis, Respiratory insufficiency, Respiratory failure, Hydrocephalus OMIM:276950
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cough, Respiratory failure, Respiratory distress OMIM:263000
Spinocerebellar Ataxia 4
Progressive cerebellar ataxia, Cerebellar atrophy, Limb dysmetria OMIM:600223
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:228940
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Tremor, Cerebellar edema, Tetraparesis, Ataxia, Respiratory failure OMIM:617186
Leigh Syndrome
Dystonia, Ataxia, Respiratory insufficiency, Respiratory failure, Abnormal pattern of respiration... OMIM:256000
Spinocerebellar Ataxia 36
Gait ataxia, Truncal ataxia, Incoordination, Limb ataxia, Dysphagia, Hypertonia, Ataxia, Cerebell... OMIM:614153
Spinocerebellar Ataxia Type 19/22
Cogwheel rigidity, Truncal ataxia, Difficulty walking, Limb ataxia, Slurred speech, Poor coordina... ORPHA:98772
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Cerebellar hypoplasia, Abnormality of neuronal migration OMIM:608840
Mitochondrial Complex I Deficiency, Nuclear Type 26
Dystonia, Dysphagia, Respiratory insufficiency, Cerebellar atrophy, Limb hypertonia, Choreoathetosis OMIM:618247
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Gait ataxia, Ataxia, Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria ORPHA:208513
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Communicating hydrocephalus, Ataxia ORPHA:1861
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Dysphagia, Oculomotor apraxia,... OMIM:614487
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Spinocerebellar Ataxia Type 17
Dystonia, Cerebellar Purkinje layer atrophy, Chorea, Gait disturbance, Abnormal pyramidal sign, B... ORPHA:98759
Ataxia-Oculomotor Apraxia 3
Dysmetria, Cerebellar atrophy, Ataxia OMIM:615217
Brown-Vialetto-Van Laere Syndrome 1
Clumsiness, Respiratory distress, Dyspnea, Dysphagia, Knee clonus, Ataxia, Ankle clonus, Respirat... OMIM:211530
Brain-Lung-Thyroid Syndrome
Abnormal drinking behavior, Dystonia, Clumsiness, Falls, Hyperactivity, Pulmonary arterial hypert... ORPHA:209905
Asbestos Intoxication
Restrictive ventilatory defect, Wheezing, Dyspnea, Late inspiratory crackles, Exertional dyspnea,... ORPHA:2302
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Gait disturbance, Respiratory insufficiency, Cerebellar atrophy, Athetosis, Op... OMIM:618241
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Communicating hydrocephalus, Respiratory insufficiency OMIM:273730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar cyst, Cerebellar vermis hypoplasia, Polymicrogyria, Respiratory failure, Agyria, Hydro... OMIM:616538
Spinocerebellar Ataxia Type 27
Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance, Cerebel... ORPHA:98764
Satb2-Associated Syndrome Due To A Pathogenic Variant
Long philtrum, Drooling, Dysphagia, Smooth philtrum, Abnormality of the dentition, Thin upper lip... ORPHA:576283
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Facial palsy, ... OMIM:310400
Developmental And Epileptic Encephalopathy 47
Inability to walk, Limb ataxia, Gait disturbance, Cerebellar atrophy, Optic disc pallor OMIM:617166
Coenzyme Q10 Deficiency, Primary, 5
Cerebellar atrophy, Respiratory insufficiency, Dystonia OMIM:614654
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Spinocerebellar Ataxia 34
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy... OMIM:133190
Arthrogryposis Multiplex Congenita 6
Neonatal death, Respiratory failure, Akinesia OMIM:619334
Boucher-Neuhauser Syndrome
Gait ataxia, Spinocerebellar atrophy, Ataxia, Abnormal upper motor neuron morphology, Cerebellar ... OMIM:215470
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Macroglossia, Hypoventilation, Pachygyria, Open mouth, Dysphagia, Pontocerebel... ORPHA:258
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Dysdiadochokinesis, Truncal ataxia, Progressive gait ataxia, Progressive cerebellar ataxia, Cereb... ORPHA:352403
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dysdiadochokinesis, Delayed eruption of teeth, Oligodontia, Dysphagia, Ataxia, Hypodontia, Cerebe... OMIM:614381
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Head titubation, Ataxia, Oculomotor apraxia, Dilated fourt... ORPHA:370022
Spinocerebellar Ataxia 15
Limb ataxia, Cerebellar atrophy, Gait ataxia, Truncal ataxia OMIM:606658
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Recurrent pneumonia, Dystonia, Widely spaced teeth, Dysphagia, Respiratory failure requiring assi... ORPHA:496641
Neurocutaneous Melanocytosis
Aplasia/Hypoplasia of the cerebellum, Death in infancy, Abnormality of neuronal migration, Mening... ORPHA:2481
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Cerebellar atrophy, Ataxia OMIM:612020
Staphylococcal Necrotizing Pneumonia
Lethargy, Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Acute infe... ORPHA:36238
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, Microlissencephaly, 4-layered lissencephaly, Abnormality of neuronal migration ORPHA:89844
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinusitis, Pneumonia, Respiratory insuff... OMIM:618695
Mental Retardation, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hypoplasia, Dilated fourth ventric... OMIM:617751
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia OMIM:613909
Hemimegalencephaly
Pachygyria, Abnormal neuron morphology, Polymicrogyria, Gray matter heterotopia ORPHA:99802
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:2772
Spinocerebellar Ataxia 10
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar atrophy, ... OMIM:603516
Spinocerebellar Ataxia Type 32
Progressive cerebellar ataxia, Cerebellar atrophy ORPHA:276183
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Difficulty walking, Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation OMIM:603689
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Dysphagia, Abnormal cortical gyration, Respiratory failure, Neonatal respiratory distress OMIM:616867
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Respiratory failure, Cerebellar hypoplasia ORPHA:3240
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Dyspnea, Respiratory distress, Bronchiectasis, Interstitial pneumonitis... OMIM:610913
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Difficulty walking, Craniofacial dystonia, Writer's cramp, Cerebellar atrophy, To... ORPHA:420492
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Thin vermilion border, Short philtrum, Hypertonia, Deep philtrum, Cerebellar hypoplasia, Smooth p... OMIM:618622
Amyotrophic Lateral Sclerosis
Dyspnea, Abnormal respiratory system physiology, Paralysis, Amyotrophic lateral sclerosis, Xerost... ORPHA:803
Neuromyelitis Optica Spectrum Disorder
Somatic sensory dysfunction, Paraplegia, Respiratory failure ORPHA:71211
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Spastic paraparesis, Hand tremor, Dysphagia, Gait disturbance, Bradykinesia, Respirator... ORPHA:289560
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Respiratory failure, Frequent falls, Abnormal palate morphology ORPHA:75840
3-Methylglutaconic Aciduria Type 7
Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor function, Hyper... ORPHA:445038
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Long philtrum, Short philtrum, Truncal ataxia, Drooling, Downturned corners of mouth, Thin upper ... OMIM:619121
Muscular Dystrophy, Duchenne Type
Respiratory failure, Waddling gait, Respiratory insufficiency, Hypoventilation OMIM:310200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Gray matter heterotopia, Cerebellar hypoplasia, Anencephaly, Hydrocephalus... OMIM:615287
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Neonatal respiratory distress, Neonatal death, Respiratory failure, Pulmonary art... OMIM:265120
Amish Lethal Microcephaly
Spina bifida, Cerebellar vermis hypoplasia, Limb hypertonia, Cleft soft palate, Lissencephaly ORPHA:99742
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Ventilator dependence with inability to wean, Inspiratory stridor, Degeneration of anterior horn ... OMIM:604320
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Facial palsy, Respiratory failure,... ORPHA:98913
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the mouth, Dyspnea, Respiratory distress, Abnormality of the philtrum, Aplasia/Hyp... ORPHA:2759
Proximal Spinal Muscular Atrophy
Inability to walk, Recurrent aspiration pneumonia, Restrictive ventilatory defect, Hypoventilatio... ORPHA:70
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy, Cerebellar hypoplasia, Respiratory insufficiency OMIM:618253
Arthrogryposis, Distal, Type 1C
Pursed lips, Thin vermilion border, Narrow mouth, Cleft lip, Cleft palate, Bifid uvula, High palate OMIM:619110
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Niemann-Pick Disease, Type C2
Dystonia, Dysphagia, Ataxia, Respiratory insufficiency, Respiratory failure, Stereotypy, Cataplex... OMIM:607625
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Gray matter heterotopia, Cerebellar cyst, Olivopontocerebellar hypoplasia,... ORPHA:370959
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Neonatal respiratory distress, N... OMIM:610921
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Nasal flaring, Respiratory failure, Tachypnea, Hypoxemia ORPHA:70587
Snakebite Envenomation
Pseudobulbar paralysis, Epistaxis, Paralysis, Respiratory paralysis, Neuromuscular dysphagia, Res... ORPHA:449285
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Respiratory failure OMIM:619386
Oculocerebrofacial Syndrome, Kaufman Type
Thin vermilion border, Short philtrum, Dyspnea, Respiratory distress, Wide mouth, Smooth philtrum... ORPHA:2707
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:245400
Childhood Apraxia Of Speech
Drooling, Speech apraxia, Poor fine motor coordination, High, narrow palate, Poor gross motor coo... ORPHA:209908
Chiari Malformation Type Ii
Spina bifida, Gray matter heterotopia, Arnold-Chiari malformation, Myelomeningocele, Hydrocephalus OMIM:207950
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Cleft upper lip, Cleft palate, Bifid uvula, Broad-based gait, Spasticity OMIM:300958
Temple Syndrome
Short philtrum, Cleft palate, Bifid uvula, High palate, Hydrocephalus OMIM:616222
Hereditary Motor And Sensory Neuropathy, Type Iic
Intercostal muscle weakness, Respiratory failure, Stridor, Obstructive sleep apnea, Decreased dis... OMIM:606071
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Recurrent Respiratory Papillomatosis
Choking episodes, Wheezing, Dyspnea, Respiratory distress, Dysphagia, Nonproductive cough, Respir... ORPHA:60032
Autosomal Recessive Spastic Paraplegia Type 39
Cerebellar atrophy, Gait ataxia ORPHA:139480
Mitochondrial Complex I Deficiency, Nuclear Type 1
Lethargy, Ataxia, Respiratory insufficiency, Cerebellar atrophy, Respiratory failure, Optic neuro... OMIM:252010
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Myoclonus OMIM:618240
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Respiratory failure, Tachypnea, Hypoxemia ORPHA:178320
Intellectual Developmental Disorder, X-Linked 12
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormality of neuronal migration OMIM:300957
Acute Interstitial Pneumonia
Dyspnea, Bronchiectasis, Pleural effusion, Nonproductive cough, Crackles, Decreased DLCO, Atelect... ORPHA:79126
Cleft Lip/Palate
Agenesis of lateral incisor, Oral-pharyngeal dysphagia, Oral cleft, Peg-shaped maxillary lateral ... ORPHA:199306
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Moebius Syndrome
Dysdiadochokinesis, Clumsiness, Respiratory distress, Dysphagia, Gait disturbance, Poor coordinat... OMIM:157900
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Respiratory failure, Optic atrophy, Hydrocephalus, Optic disc pallor OMIM:259720
Niemann-Pick Disease Type C
Dystonia, Axial dystonia, Clumsiness, Speech apraxia, Respiratory insufficiency, Cerebellar vermi... ORPHA:646
Leigh Syndrome
Dystonia, Abnormality of extrapyramidal motor function, Dysphagia, Chorea, Hyperkinetic movements... ORPHA:506
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Cerebellar dysplasia, St... ORPHA:457240
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Walker-Warburg Syndrome
Pachygyria, Cerebellar hypoplasia, Abnormality of neuronal migration, Polymicrogyria, Abnormal co... ORPHA:899
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macroglossia, Wide mouth, Ataxia, Bifid uvula, High palate, Microdontia, Widely spaced teeth, Acc... OMIM:266920
Combined Oxidative Phosphorylation Deficiency 4
Opisthotonus, Polymicrogyria, Respiratory failure, Spasticity OMIM:610678
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Dental crowding, Abnormality of the dentition, Thin upper lip vermilion, Triangula... OMIM:616331
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Leigh Syndrome With Cardiomyopathy
Apnea, Dystonia, Respiratory distress, Dysphagia, Hypertonia, Chorea, Central hypoventilation, At... ORPHA:70474
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:2518
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of canine, Agan... ORPHA:2919
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Akinesia OMIM:607598
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Lethargy, Narrow palate, Respiratory distress, Respiratory insufficiency, Abnormality of n... OMIM:608836
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Abnormal blood gas level, Hypoxemia ORPHA:70578
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Hypertonia, Protruding tongue, Cleft palate, Bifid uvula, Dandy-Walker malformation... OMIM:612938
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Productive cough, Atelectasis, Neonatal respiratory distress, Respirato... ORPHA:244
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Pachygyria, Type II lissencephaly, Gray matter heterotopia, Subcortical heterotopia, Cerebellar h... OMIM:614643
Pseudo-Torch Syndrome 2
Lethargy, Gray matter heterotopia, Cerebellar hypoplasia, Respiratory insufficiency, Polymicrogyria OMIM:617397
Avian Influenza
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Pneumonia, Productiv... ORPHA:454836
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Restrictive ventilatory defect, Dyspnea, Cardiorespiratory arrest, Gray matter... ORPHA:26791
Poliomyelitis
Inability to walk, Paralytic ileus, Paresthesia, Dysphagia, Paraparesis, Hyperkinetic movements, ... ORPHA:2912
Lethal Omphalocele-Cleft Palate Syndrome
Unilateral cleft lip, Cleft palate, Bifid uvula, Cleft soft palate, Hydrocephalus ORPHA:2736
Bilateral Perisylvian Polymicrogyria
Pseudobulbar paralysis, Oromotor apraxia, Apnea, Drooling, Dysphagia, Paraparesis, Cerebellar ver... ORPHA:98889
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Cerebellar hypoplasia, Periventricular heterotopia ORPHA:255138
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Wide mouth, Unilateral cleft lip, Cerebellar atrophy, Stereotypy, Thick low... OMIM:619103
Orofaciodigital Syndrome V
Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula, Median cleft lip OMIM:174300
Temple Syndrome
Bifid uvula, Polyphagia, Hydrocephalus ORPHA:254516
Autosomal Recessive Centronuclear Myopathy
Narrow mouth, Respiratory insufficiency, Waddling gait, Bifid uvula, High palate ORPHA:169186
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Gray matter heterotopia OMIM:164180
Subependymal Nodular Heterotopia
Gray matter heterotopia, Abnormality of neuronal migration, Meningocele, Polymicrogyria, Myelomen... ORPHA:101030
Scedosporiosis
Decreased pulmonary function, Cough, Bronchial breath sound, Pneumonia, Pleural empyema, Respirat... ORPHA:449280
Mercury Poisoning
Dystonia, Dyspnea, Respiratory distress, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Spinocerebellar Ataxia 6
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:183086
Orofaciodigital Syndrome Type 3
Cerebellar vermis hypoplasia, Oculomotor apraxia, Hamartoma of tongue, Abnormality of the dentiti... ORPHA:2752
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Hypertonia, Cerebellar atrophy, Bifid uvula, High palate OMIM:601110
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure, Cerebellar hypoplasia, Hypoplasia of the pons ORPHA:88618
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Retrocerebellar cyst, Gray matter heterotopia OMIM:603671
Neu-Laxova Syndrome
Spina bifida, Abnormality of the mouth, Pachygyria, Abnormality of the philtrum, Everted lower li... ORPHA:2671
Zimmermann-Laband Syndrome 3
Bifid uvula, High palate, Thick lower lip vermilion, Gingival overgrowth OMIM:618658
Cardiocranial Syndrome, Pfeiffer Type
Broad philtrum, Episodic tachypnea, Torticollis, Bifid uvula, High, narrow palate ORPHA:2872
Cri-Du-Chat Syndrome
Short philtrum, Abnormal respiratory system physiology, Downturned corners of mouth, Difficulty w... OMIM:123450
Cryptosporidiosis
Wheezing, Respiratory distress, Dysphagia, Cough, Abnormal esophagus morphology, Respiratory fail... ORPHA:1549
Vici Syndrome
Death in infancy, Gray matter heterotopia, Cerebellar hypoplasia, Hypoplasia of the pons ORPHA:1493
Stickler Syndrome, Type Ii
Bifid uvula, High, narrow palate, Pierre-Robin sequence, Cleft palate OMIM:604841
Lissencephaly Due To Lis1 Mutation
Pachygyria, Anterior predominant thick cortex pachygyria, Cerebellar vermis hypoplasia, Dysgyria,... ORPHA:95232
Emanuel Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Dental crowding, Dysphagia, Cough, S... ORPHA:96170
Cach Syndrome
Cerebellar atrophy, Abnormal pons morphology, Cerebellar vermis atrophy, Dysgyria ORPHA:135
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Widely spaced teeth, Respiratory insufficiency OMIM:135100
Coffin-Siris Syndrome 11
Downturned corners of mouth, Wide mouth, Esophageal atresia, Bifid uvula, High palate, Cleft soft... OMIM:618779
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Toe walking, Respiratory insufficiency, Respiratory failure, Babinski sign, Frequent falls ORPHA:746
Familial Infantile Myoclonic Epilepsy
Periventricular nodular heterotopia, Cerebellar atrophy ORPHA:352582
Hydrolethalus
Arrhinencephaly, Anencephaly, Gingival cleft, Unilateral cleft lip, Cleft palate, Bifid uvula, Hy... ORPHA:2189
Sandestig-Stefanova Syndrome
Oral cleft, High palate, Respiratory failure OMIM:618804
Lhermitte-Duclos Disease
Macroglossia, Ataxia, Enlarged cerebellum, Polymicrogyria, Hydrocephalus ORPHA:65285
Cerebrotendinous Xanthomatosis
Abnormal dentate nucleus morphology, Ataxia, Respiratory insufficiency, Cerebellar atrophy, Abnor... OMIM:213700
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Dysphagia, Hypertonia, Exaggerated startle response, Respiratory failure, Clonus OMIM:617301
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Hypodontia, Waddling gait, Bifid uvula, High palate, Dental malocclusion OMIM:612350
Abetalipoproteinemia
Positive Romberg sign, Gait ataxia, Impaired distal proprioception, Impaired vibratory sensation,... ORPHA:14
Desmosterolosis
Pachygyria, Narrow mouth, Hypertonia, Intestinal malrotation, Submucous cleft hard palate, Abnorm... ORPHA:35107
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Submucous cleft hard palate, Hyperactivity OMIM:619239
Combined Oxidative Phosphorylation Deficiency 3
Dystonia, Respiratory insufficiency, Ataxia, Respiratory failure, Optic neuropathy, Optic atrophy OMIM:610505
Auriculocondylar Syndrome
Narrow mouth, Respiratory distress, Dental crowding, Difficulty in tongue movements, Mandibular c... ORPHA:137888
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Short philtrum, Respiratory failure, Wide mouth ORPHA:1194
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Lissencephaly OMIM:617822
Riddle Syndrome
Recurrent pneumonia, Restrictive ventilatory defect, Clumsiness, Gait disturbance, Recurrent sinu... ORPHA:420741
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Pneumonia, Tented upper lip vermilion, Respiratory failur... ORPHA:98905
Chromosome 18Q Deletion Syndrome
Tremor, Short philtrum, Downturned corners of mouth, Chorea, Poor coordination, Cerebellar hypopl... OMIM:601808
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Respiratory failure, Respiratory distress OMIM:617895
Glycogen Storage Disease Due To Acid Maltase Deficiency
Inability to walk, Macroglossia, Sleep apnea, Respiratory distress, Difficulty in tongue movement... ORPHA:365
Peripartum Cardiomyopathy
Dyspnea, Exertional dyspnea, Orthopnea, Crackles, Respiratory failure, Asthma, Paroxysmal dyspnea... ORPHA:563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Pachygyria, Type II lissencephaly, Cerebellar cyst, Partial absence of cerebellar vermis, Death i... OMIM:613150
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Cerebellar hypoplasia, Hydrocephalus, Periventricular heterotopia OMIM:618476
Burn-Mckeown Syndrome
Thin vermilion border, Short philtrum, Narrow mouth, Cleft upper lip, Cleft palate, Bifid uvula OMIM:608572
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Short philtrum, Dental crowding, Cleft palate, Bifid uvula, High, narrow palate, Thick lower lip ... OMIM:309583
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Joubert Syndrome
Polymicrogyria, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration ORPHA:475
Infantile Krabbe Disease
Respiratory distress, Spastic diplegia, Ankle clonus, Opisthotonus, Lower limb spasticity, Respir... ORPHA:206436
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short philtrum, Narrow mouth, Poor fine motor coordination, Cleft palate, Bifid uvula, High palat... ORPHA:96184
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Submucous cleft hard palate, Cleft palate ORPHA:2521
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus, Gray matter heterotopia OMIM:187600
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Open mouth, Cerebellar dysplasia, Cerebellar hypoplasia, Polymicrogyria, Tracheobronchomalacia, S... ORPHA:500159
Severe Congenital Nemaline Myopathy
Facial palsy, Respiratory failure, Facial diplegia ORPHA:171430
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Respiratory failure, Respiratory insufficiency OMIM:609015
Megalocornea-Mental Retardation Syndrome
Long philtrum, Dysphagia, Poor coordination, Ataxia, Bifid uvula, High palate OMIM:249310
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Brain Small Vessel Disease 2
Polymicrogyria, Subcortical heterotopia OMIM:614483
Birk-Barel Syndrome
Short philtrum, Dysphagia, Submucous cleft soft palate, Tented upper lip vermilion, Bifid uvula, ... OMIM:612292
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Dysdiadochokinesis, Dystonia, Poor coordination, Abnormal pyramidal sign, Ankle clonus, Submucous... OMIM:618891
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Downturned corners of mouth, Pleural effusion, Respiratory failure... ORPHA:3015
3C Syndrome
Aplasia/Hypoplasia of the cerebellum, Death in infancy, Abnormality of neuronal migration, Hydroc... ORPHA:7
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration ORPHA:2318
Kleefstra Syndrome 2
Bifid uvula, Everted lower lip vermilion OMIM:617768
Mucopolysaccharidosis, Type Ix
Bifid uvula, Submucous cleft hard palate OMIM:601492
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Respiratory distress, Difficulty in tongue movements, Respiratory failure requiring... ORPHA:308552
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Long philtrum, Respiratory distress, Cerebellar hypoplasia, Smooth philtrum, Abnormality of the d... OMIM:300968
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, High palate, Median cleft lip OMIM:155145
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Open mouth, Supernumerary tooth, Bifid uvula, High palate, Thick lower lip... OMIM:617412
47,Xyy Syndrome
Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Asthma, Hyperactivity, Hydrocephalus, ... ORPHA:8
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Geleophysic Dysplasia 3
Long philtrum, Sleep apnea, Dyspnea, Pneumonia, Thick vermilion border, Respiratory failure OMIM:617809
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia ORPHA:2512
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Cerebellar vermis hypoplasia, Abnormality of neuronal migration, Polymicrogyria, Hydr... ORPHA:157
Schilbach-Rott Syndrome
Bifid uvula, Narrow mouth, Attention deficit hyperactivity disorder, Submucous cleft hard palate OMIM:164220
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration ORPHA:93274
Nijmegen Breakage Syndrome
Anal stenosis, Deep philtrum, Non-midline cleft lip, Abnormality of neuronal migration, Cleft pal... ORPHA:647
Otopalatodigital Syndrome, Type Ii
Narrow mouth, Stillbirth, Respiratory insufficiency, Respiratory failure, Cleft palate, Hydroceph... OMIM:304120
Semilobar Holoprosencephaly
Inability to walk, Oromotor apraxia, Lethargy, Abnormal central motor function, Dysphagia, Centra... ORPHA:220386
Hereditary Angioedema Type 1
Intestinal edema, Dyspnea, Paresthesia, Respiratory distress, Abnormal soft palate morphology, In... ORPHA:100050
Alobar Holoprosencephaly
Inability to walk, Oromotor apraxia, Lethargy, Abnormal central motor function, Dysphagia, Centra... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Inability to walk, Oromotor apraxia, Lethargy, Abnormal central motor function, Dysphagia, Centra... ORPHA:93926
Lobar Holoprosencephaly
Inability to walk, Oromotor apraxia, Lethargy, Abnormal central motor function, Dysphagia, Centra... ORPHA:93924
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Communicating hydrocephalus, Lissencephaly, Gray matter heterotopia OMIM:615219
Opitz Gbbb Syndrome, Type Ii
Hiatus hernia, Anal stenosis, Dysphagia, Cerebellar vermis hypoplasia, Smooth philtrum, Thin uppe... OMIM:145410
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Long philtrum, Downturned corners of mouth, Deep philtrum, Intestinal malrotation, Smooth philtru... ORPHA:404440
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia OMIM:601374
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion ORPHA:542323
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Man1B1-Cdg
Cerebellar hypoplasia, Periventricular heterotopia ORPHA:397941
Hyperphosphatasia-Intellectual Disability Syndrome
Short philtrum, Downturned corners of mouth, Gait disturbance, Oculomotor apraxia, Aganglionic me... ORPHA:247262
Apert Syndrome
Delayed eruption of teeth, Narrow palate, Esophageal atresia, Respiratory insufficiency, Cleft pa... ORPHA:87
Ritscher-Schinzel Syndrome 3
Periventricular nodular heterotopia, Cerebellar vermis hypoplasia, Death in infancy OMIM:619135
Short Rib-Polydactyly Syndrome
Intestinal malrotation, Oral cleft, Abnormal cerebellum morphology, Respiratory failure, Cleft li... ORPHA:1505
Pai Syndrome
Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Cleft palate ORPHA:1993
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Respiratory distress, Pierre-Robin sequence, Waddling gait, Cleft... OMIM:183900
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Respiratory insufficiency, Exertional dyspnea OMIM:614370
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid tongue, Myoclonus, Supernumerary tooth, Bifid uvula, Microdontia OMIM:258850
Native American Myopathy
Inability to walk, Downturned corners of mouth, Submucous cleft soft palate, Respiratory insuffic... ORPHA:168572
Congenital Fiber-Type Disproportion Myopathy
Dental crowding, Dysphagia, Hypercapnia, Impaired mastication, Respiratory insufficiency due to m... ORPHA:2020
Ear-Patella-Short Stature Syndrome
Dyspnea, Narrow mouth, Respiratory distress, Thick vermilion border, Respiratory failure, Cleft p... ORPHA:2554
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enamel hypoplasia, Hypertonia, Cerebellar vermis hypoplasia, Wide mouth, Abnormality of the denti... OMIM:615802
Zimmermann-Laband Syndrome
Macroglossia, Gingival fibromatosis, Wide mouth, Hypodontia, Anterior open-bite malocclusion, Sup... ORPHA:3473
Van Esch-O'Driscoll Syndrome
Unilateral vocal cord paralysis, Cerebellar hypoplasia, Spina bifida occulta, Bifid uvula, Spasti... OMIM:301030
Renal Dysplasia-Limb Defects Syndrome
Thin vermilion border, Respiratory distress, Narrow mouth, Neonatal death, Respiratory failure, H... OMIM:266910
Rapp-Hodgkin Syndrome
Narrow mouth, Small, conical teeth, Hypodontia, Bifid uvula, Cleft upper lip, Cleft palate, Conic... OMIM:129400
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ... ORPHA:884
Diamond-Blackfan Anemia 6
Bifid uvula, Cleft upper lip, Tracheomalacia, Cleft palate OMIM:612561
Buratti-Harel Syndrome
Recurrent pneumonia, Bifid uvula, High palate, Velopharyngeal insufficiency, Submucous cleft hard... OMIM:619314
Boutonneuse Fever
Respiratory failure ORPHA:83313
Oculofaciocardiodental Syndrome
Long philtrum, Oligodontia, Delayed eruption of teeth, Tooth malposition, Abnormal palate morphol... ORPHA:2712
Meckel Syndrome 12
Bifid uvula, Cerebellar hypoplasia OMIM:616258
Costello Syndrome
Hydrocephalus, Arnold-Chiari type I malformation, Enlarged cerebellum, Respiratory insufficiency,... OMIM:218040
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
1Q41Q42 Microdeletion Syndrome
Holoprosencephaly, Thick vermilion border, Submucous cleft hard palate, Cleft palate ORPHA:250999
Congenital Tricuspid Valve Dysplasia
Tachypnea, Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:555874
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Pachygyria, Exencephaly, Abnormality of neuronal migration, Polymicrogyria, Abnormal cortical gyr... ORPHA:2211
Progeria-Short Stature-Pigmented Nevi Syndrome
Central sleep apnea, Paresthesia, Fragile teeth, Hypodontia, Selective tooth agenesis, Bifid uvul... ORPHA:2959
Loeys-Dietz Syndrome 4
Emphysema, Torticollis, Broad uvula, Bifid uvula, High palate, High, narrow palate, Pneumothorax,... OMIM:614816
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Long philtrum, Ataxia, Thin upper lip vermilion, Unsteady gait, Stereotypy, High palate, Pyloric ... ORPHA:457279
Thanatophoric Dysplasia
Hydrocephalus, Gray matter heterotopia ORPHA:2655
Bifid Uvula
Bifid uvula, Submucous cleft soft palate, Cleft lip ORPHA:99771
Malignant Atrophic Papulosis
Intestinal perforation, Pain insensitivity, Pleural effusion, Intestinal fistula, Respiratory fai... ORPHA:679
Lethal Acantholytic Erosive Disorder
Natal tooth, Respiratory failure, Cleft palate ORPHA:158687
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Cerebellar vermis hypoplasia, Abnormality of neuronal migration, Polymicrogyria, Hydr... ORPHA:228308
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure OMIM:614862
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Bifid uvula, Spinal dysraphism, Laryngotracheomalacia, Cleft palate OMIM:617660
Myhre Syndrome
Short philtrum, Narrow mouth, Ataxia, Respiratory insufficiency, Thin upper lip vermilion, Respir... OMIM:139210
Arterial Tortuosity Syndrome
Hiatus hernia, Median cleft lip and palate, Esophagitis, Dyspnea, Cardiorespiratory arrest, Respi... ORPHA:3342
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Thin vermilion border, Short philtrum, Downturned corners of mouth, Dysphagia, Emphysema, Submuco... ORPHA:500150
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Spina bifida occulta, Cleft palate, Bifid uvula, High, narrow palate, ... ORPHA:2780
Steinert Myotonic Dystrophy
Inability to walk, Gait disturbance, Poor fine motor coordination, Respiratory failure requiring ... ORPHA:273
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Smooth philtrum OMIM:614526
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the cerebellum, Death in early adulthood, Abnormality of neuronal migration ORPHA:192
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Limb-Mammary Syndrome
Bifid uvula, Cleft palate, Hypodontia OMIM:603543
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia ORPHA:3201
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Osteopathia Striata With Cranial Sclerosis
Apnea, Dental crowding, Anal stenosis, Pierre-Robin sequence, Natal tooth, Intestinal malrotation... OMIM:300373
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Exaggerated cupid's bow, Macroglossia, Respiratory failure, Open mouth ORPHA:254528
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Arthrogryposis, Distal, Type 3
Bifid uvula, High palate, Submucous cleft hard palate, Cleft palate OMIM:114300
Orofaciodigital Syndrome Type 2
Apnea, Talon cusp, Agenesis of central incisor, Hypoplasia of teeth, Taurodontia, Tongue nodules,... ORPHA:2751
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Tremor, Short philtrum, Narrow mouth, Open mouth, Speech apraxia, Dental crowding, Drooling, Cere... OMIM:300967
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Inability to walk, Open bite, Macroglossia, Open mouth, Gray matter heterotopia, Downturned corne... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Inability to walk, Open bite, Macroglossia, Open mouth, Gray matter heterotopia, Downturned corne... ORPHA:352665
W Syndrome
Agenesis of maxillary central incisor, Spasticity, Upper lip pit, Broad uvula, Submucous cleft ha... ORPHA:2804
Apert Syndrome
Delayed eruption of teeth, Narrow palate, Arnold-Chiari type I malformation, Esophageal atresia, ... OMIM:101200
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Pierre-Robin sequence, Dyspnea, Cleft palate OMIM:614921
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Pachygyria, Periventricular heterotopia, Olivopontocerebellar hypoplasia, Cerebellar hypoplasia, ... ORPHA:468631
Cree Mental Retardation Syndrome
Cleft soft palate OMIM:606851
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cerebellar malformation, Pachygyria, Type II lissencephaly, Cerebellar dysplasia, Cerebellar hypo... OMIM:236670
Stickler Syndrome, Type I
Bifid uvula, Pierre-Robin sequence, Submucous cleft hard palate, Cleft palate OMIM:108300
Marden-Walker Syndrome
Narrow mouth, Cerebellar hypoplasia, Cleft palate, Bifid uvula, Abnormal cerebellar vermis morpho... ORPHA:2461
15Q Overgrowth Syndrome
Dental crowding, Smooth philtrum, Bifid uvula, Abnormality of the incisor, Pulmonary arterial hyp... ORPHA:314585
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Oligodontia, Macroglossia, Open mouth, Gray matter heterotopia, Downturned corners of mouth, Pleu... ORPHA:453499
Arima Syndrome
Gray matter heterotopia, Occipital meningocele, Dilated fourth ventricle, Aplasia/Hypoplasia of t... OMIM:243910
Desbuquois Dysplasia 2
Long philtrum, Dental crowding, Hypodontia, Neonatal respiratory distress, Cleft palate, Bifid uvula OMIM:615777
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Duodenal atresia, Spina bifida occulta, Tracheoesophageal fistula, Attention ... OMIM:619227
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
6Q Terminal Deletion Syndrome
Gray matter heterotopia, Periventricular heterotopia, Cerebellar hypoplasia, Abnormality of neuro... ORPHA:75857
Listeriosis
Tremor, Respiratory distress, Hemiparesis, Ataxia, Pneumonia, Somatic sensory dysfunction, Respir... ORPHA:533
Holoprosencephaly 2
Median cleft lip and palate, Holoprosencephaly, Cerebellar hypoplasia, Solitary median maxillary ... OMIM:157170
Prader-Willi Syndrome Due To Translocation
Carious teeth, Respiratory distress, Downturned corners of mouth, Everted lower lip vermilion, Tr... ORPHA:177907
Holoprosencephaly 3
Holoprosencephaly, Solitary median maxillary central incisor, Cleft lip, Cleft palate, Bifid uvula OMIM:142945
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Hypertonia, Thick vermilion border, Submucous cleft hard palate, Respiratory failure, Cl... ORPHA:2636
Nocardiosis
Dyspnea, Respiratory distress, Pleural effusion, Emphysema, Nonproductive cough, Pneumonia, Produ... ORPHA:31204
Galloway-Mowat Syndrome
Pachygyria, Aqueductal stenosis, Abnormality of neuronal migration ORPHA:2065
Pallister W Syndrome
Agenesis of central incisor, Agenesis of maxillary central incisor, Spasticity, Broad uvula, Subm... OMIM:311450
Dubowitz Syndrome
Delayed eruption of teeth, Anal stenosis, Wide mouth, Respiratory insufficiency, Abnormality of t... ORPHA:235
Tuberous Sclerosis Complex
Respiratory distress, Noncommunicating hydrocephalus, Respiratory failure, Hyperactivity, Attenti... ORPHA:805
Loeys-Dietz Syndrome 5
Hiatus hernia, Smooth philtrum, Tented upper lip vermilion, Cleft palate, Bifid uvula, High palat... OMIM:615582
Cerebrocostomandibular Syndrome
Long philtrum, Anal stenosis, Abnormality of the dentition, Neonatal respiratory distress, Glosso... OMIM:117650
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Open mouth, Periventricular heterotopia, Dental crowding, Poor fine motor coordination, Agenesis ... ORPHA:261537
Cardiofaciocutaneous Syndrome 1
Open bite, Open mouth, Hypertonia, Deep philtrum, Oculomotor apraxia, Abnormality of the dentitio... OMIM:115150
Double Outlet Right Ventricle
Narrow mouth, Intestinal malrotation, Cleft palate, Tachypnea, Submucous cleft hard palate ORPHA:3426
Bloom Syndrome
Chronic pulmonary obstruction, Esophageal neoplasm, Pneumonia, Cheilitis, Respiratory failure, Rh... ORPHA:125
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Gray matter heterotopia OMIM:219730
Otospondylomegaepiphyseal Dysplasia
Bifid uvula, Glossoptosis, Cleft palate ORPHA:1427
Orofaciodigital Syndrome I
Gray matter heterotopia, Abnormal cerebellum morphology, Abnormal cortical gyration, Myelomeningo... OMIM:311200
Tetrasomy 9P
Median cleft lip and palate, Abnormal dental enamel morphology, Amelogenesis imperfecta, Pachygyr... ORPHA:3310
Joubert Syndrome With Hepatic Defect
Aplasia/Hypoplasia of the cerebellum, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of... ORPHA:1454
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Long philtrum, Restrictive ventilatory defect, Short philtrum, Macroglossia, Narrow mouth, Drooli... ORPHA:96334
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Long philtrum, Arnold-Chiari type I malformation, Smooth philtrum, Thin upper lip vermilion, Tria... OMIM:617506
Aicardi Syndrome
Spina bifida, Pachygyria, Gray matter heterotopia, Cerebellar vermis hypoplasia, Polymicrogyria, ... OMIM:304050
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Bifid uvula, Lower limb spasticity, Hypertonia, Hypoplasia of the tooth germ ORPHA:293967
Branchiootorenal Syndrome 1
Intestinal malrotation, Increased overbite, Cleft palate, Bifid uvula, High palate, Microdontia OMIM:113650
Orofaciodigital Syndrome Type 10
Long philtrum, Cleft soft palate, Accessory oral frenulum ORPHA:2756
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Narrow mouth, Dental crowding, Thin upper lip vermilion, Bifid uvula, ... OMIM:300990
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Gray matter heterotopia ORPHA:314679
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Hypodontia, Bifid uvula, Dens in dente, Macrodontia OMIM:263540
Vici Syndrome