Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
tubulin, beta 3 class III
Synonyms:
3200002H15Rik,  betaIII-tubulin,  Tuj1

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 Tubb3 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.

The table below shows human diseases associated to Tubb3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Polymicrogyria, Cortical dysplasi... OMIM:614039
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Type II lissencephaly, Hypoplasia of the corpus callosum, Cerebellar... ORPHA:300570
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Facial palsy, Peripheral axonal neuropathy, Agenesis of corpus callosum OMIM:600638

The table below shows human diseases predicted to be associated to Tubb3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Agenesis Of Cerebral White Matter
Cerebral white matter agenesis OMIM:202600
Specific Language Impairment 5
Hyperintensity of cerebral white matter on MRI OMIM:615432
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of co... ORPHA:171703
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Unilateral polymicrogyria, ... OMIM:610031
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Optic atrophy, Dysplastic corpus callosum OMIM:613162
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Abse... OMIM:617542
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Polymicrogyria, Cortical dysplasi... OMIM:614039
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Dysplastic corpus callosum, Polymicrogy... OMIM:604213
Lissencephaly 4
Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Agenesis of corpus callosum, Lisse... OMIM:614019
Worster-Drought Syndrome
Microcephaly, Abnormal cranial nerve morphology ORPHA:3465
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Polymicrogyria, Abnormality of the basal ganglia, Agenesis of ... ORPHA:101029
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Small cerebral cortex, Cortical dysplas... OMIM:608716
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogy... ORPHA:250972
Lissencephaly 3
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Cerebellar vermis hyp... OMIM:611603
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Frontal cortical atrophy, Death in infancy, Parietal cortical atrophy, Death in childhood, Microc... OMIM:618766
X-Linked Neurodegenerative Syndrome, Bertini Type
Death in infancy, Agenesis of corpus callosum ORPHA:85334
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Cerebellar hypoplasia, Inferior vermis hypoplasia, Microcephaly, Hydroceph... OMIM:304100
Lissencephaly, X-Linked, 1
Pachygyria, Death in infancy, Agyria, Agenesis of corpus callosum, Lissencephaly OMIM:300067
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Microcephaly, Optic... ORPHA:1528
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Cerebral atrophy, Pneumonia, Agenesis of corpus callosum, Partial agenes... ORPHA:85179
Band Heterotopia
Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus callosum, Hydrocephalus OMIM:600348
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Cerebral cortical atrophy, Microcephaly, Optic atrophy, Agenesis of corpus callosum, Hypoplasia o... OMIM:617669
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Cerebral atrophy, Agenesis of corpus callosum, Optic atrophy OMIM:274270
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Optic nerve hypoplasia, Agenesi... OMIM:218670
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401830
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild malformation of corti... ORPHA:500166
Severe X-Linked Mitochondrial Encephalomyopathy
Sensory axonal neuropathy, Abnormal corpus striatum morphology, Respiratory distress, Respiratory... ORPHA:238329
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401820
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Hypoplasia of the brainstem, Absent septum pellucidum, Hypoplasia of the corpus callosum, Cerebra... OMIM:618492
Bowen Syndrome Of Multiple Malformations
Death in childhood, Agenesis of corpus callosum OMIM:211200
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Hypoplastic hippocampus, Cerebral atrophy, Death in infancy, Agenesis of corpus callosum OMIM:600329
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Type II lissencephaly, Hypoplasia of the corpus callosum, Cerebellar... ORPHA:300570
Fetal Akinesia Syndrome, X-Linked
Arrhinencephaly, Agenesis of corpus callosum, Stillbirth OMIM:300073
Microcephaly 13, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern, Cerebellar hypoplasia, Partial agenesis of the corpus cal... OMIM:616051
Masa Syndrome
Agenesis of corpus callosum ORPHA:2466
Gaba-Transaminase Deficiency
Death in childhood, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:613163
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hypoplasia, Death in infancy, Simplified g... OMIM:619302
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Micro... OMIM:617090
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal corpus... ORPHA:255182
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Neuronal loss in basal ganglia, Basal ganglia gliosis, Death in infancy, Respiratory distress OMIM:604377
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea, Hydrocephalus, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum, D... OMIM:300864
Microcephaly 16, Primary, Autosomal Recessive
Microcephaly, Agenesis of corpus callosum, Simplified gyral pattern OMIM:616681
Congenital Disorder Of Glycosylation, Type Iu
Cerebral white matter atrophy, Respiratory distress, Cerebellar hypoplasia, Death in infancy, Neo... OMIM:615042
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Pachygyria, Neuronal loss in the cerebral cortex, Cerebellar hypoplas... ORPHA:168486
Septooptic Dysplasia
Absent septum pellucidum, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Agenesis of corp... OMIM:182230
Developmental And Epileptic Encephalopathy 88
Progressive microcephaly, Inferior vermis hypoplasia, Partial agenesis of the corpus callosum, Hy... OMIM:618959
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Partial agenesis of the corpus callosum OMIM:233810
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Facial palsy, Peripheral axonal neuropathy, Agenesis of corpus callosum OMIM:600638
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal cranial nerve morphology, Respiratory distress, Ho... ORPHA:990
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the brainstem, Cerebellar hypoplasia, Death in infancy, Simplified gyral pattern, A... OMIM:619301
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Caudate atrophy, Agenesis of corpus callosum OMIM:618238
Combined Oxidative Phosphorylation Deficiency 50
Microcephaly, Partial agenesis of the corpus callosum OMIM:619025
Mental Retardation, Autosomal Dominant 22
Microcephaly, Agenesis of corpus callosum OMIM:612337
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dilation of lateral ventricles, Optic nerve hypoplasia, Spina bifida occulta, Microcephaly, Agene... OMIM:618736
Joubert Syndrome 23
Tachypnea, Dysplastic corpus callosum, Apnea OMIM:616490
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Peripheral axonal neuropathy, Respiratory distress OMIM:619099
Glycine Encephalopathy
Death in infancy, Agenesis of corpus callosum OMIM:605899
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:612948
Warburg Micro Syndrome 1
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebral atrophy, Cerebellar hyp... OMIM:600118
Masa Syndrome
Microcephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:303350
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Abnormal periventricular white matter morpholog... OMIM:604360
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum OMIM:618276
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Dysgenesis of the hippocampus, Agenesis of ... ORPHA:238722
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory distress, Respiratory insufficiency, Facial palsy, Re... OMIM:614399
Amish Lethal Microcephaly
Spina bifida, Cerebellar vermis hypoplasia, Death in infancy, Microcephaly, Optic atrophy, Agenes... ORPHA:99742
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hypoplasia of the brainstem, Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia, Anencep... OMIM:615287
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Microcephaly, Agenesis of cor... OMIM:614833
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Peripheral hypomyel... OMIM:605253
Mucolipidosis Iv
Cerebral dysmyelination, Microcephaly, Optic atrophy, Dysplastic corpus callosum OMIM:252650
3Q13 Microdeletion Syndrome
Agenesis of corpus callosum ORPHA:1621
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia cysts, Cerebral atrophy, Apneic episodes precipitated by illness, fatigue, stress, ... OMIM:312170
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Restrictive ventilatory defect, Decreased sensory nerv... OMIM:218000
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:262767
Lissencephaly 7 With Cerebellar Hypoplasia
Cerebellar hypoplasia, Agyria, Microcephaly, Agenesis of corpus callosum, Lissencephaly OMIM:616342
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Microcephaly, Optic atrophy, Partial agenesis of the corpus callosum OMIM:618346
Short Chain Acyl-Coa Dehydrogenase Deficiency
Microcephaly, Optic atrophy, Respiratory distress ORPHA:26792
Leukodystrophy, Hypomyelinating, 17
Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, Respiratory distress OMIM:618006
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Hypoplasia of the brainstem, Diffuse axonal swelling, Pachygyria, Neuronal loss in the cerebral c... ORPHA:86822
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Frontalis muscle weakness, Respiratory distress... OMIM:300580
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Optic atrophy, Partial agenesis of the corpus callosum OMIM:245349
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Corticospinal tract hypoplasia, Aqueductal... OMIM:307000
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Hypoplasia of the optic tract, Partial agenesis of the corpus callosum, Primary microcephaly, Cer... ORPHA:500144
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Spinocerebellar Ataxia 23
Agenesis of corpus callosum OMIM:610245
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Hydrocephalus, Abnormal cerebral white matter m... OMIM:618476
Orofaciodigital Syndrome V
Aganglionic megacolon, Agenesis of corpus callosum OMIM:174300
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the brainstem, Pachygyria, Agenesis of corpus callosum, Corticospinal tract hypopla... ORPHA:255138
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum ORPHA:2508
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Agenesis of corpus callosum OMIM:225040
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Coach Syndrome 2
Apneic episodes in infancy, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Hydrolethalus Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Anencephaly OMIM:614120
Lethal Osteosclerotic Bone Dysplasia
Microcephaly, Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Autosomal Recessive Primary Microcephaly
Microcephaly, Pachygyria, Agenesis of corpus callosum, Hypoplasia of the frontal lobes ORPHA:2512
Congenital Disorder Of Glycosylation, Type Ix
Microcephaly, Optic atrophy, Death in childhood, Respiratory distress OMIM:615597
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Microcephaly,... OMIM:225790
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Dyspnea, Cough, Respiratory failure requiring assisted ... ORPHA:90117
Congenital Disorder Of Glycosylation, Type Iy
Hypoplasia of the corpus callosum, Microcephaly, Respiratory distress OMIM:300934
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Respiratory distress, Hypoplasia of the corpus callosum, Primary mic... ORPHA:89844
Stt3B-Cdg
Microcephaly, Optic atrophy, Respiratory distress ORPHA:370924
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Hypoplasia of the corpus call... ORPHA:79243
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Respiratory distress, Abnormal periventricular white matt... ORPHA:1145
Bronchopulmonary Dysplasia
Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system physiology, Dyspnea, Cou... ORPHA:70589
Agnathia-Otocephaly Complex
Holoprosencephaly, Agenesis of corpus callosum, Tracheomalacia, Respiratory distress OMIM:202650
Holoprosencephaly 11
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum OMIM:614226
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Hy... ORPHA:2182
Cerebrooculofacioskeletal Syndrome 1
Microcephaly, Death in childhood, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:214150
Jaberi-Elahi Syndrome
Microcephaly, Optic atrophy, Agenesis of corpus callosum OMIM:617988
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Diffuse white matter abnormalities, Type II lissencephaly, Hydroceph... ORPHA:370959
Foxg1 Syndrome
Pachygyria, Abnormal respiratory system physiology, Hypoplasia of the corpus callosum, Abnormal c... ORPHA:561854
Combined Oxidative Phosphorylation Deficiency 24
Hypoplasia of the corpus callosum, Facial palsy, Microcephaly, Optic atrophy, Agenesis of corpus ... OMIM:616239
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum OMIM:617127
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Combined Oxidative Phosphorylation Deficiency 2
Agenesis of corpus callosum OMIM:610498
X-Linked Lissencephaly With Abnormal Genitalia
Pachygyria, Aganglionic megacolon, Death in infancy, Microcephaly, Agenesis of corpus callosum ORPHA:452
Lissencephaly Type Iii And Bone Dysplasia
Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Microlissencephaly, Agenesis of corpu... OMIM:601160
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hypoplasia of the brainstem, Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia, Respira... OMIM:615249
Microcephaly, Amish Type
Progressive microcephaly, Cerebellar hypoplasia, Partial agenesis of the corpus callosum OMIM:607196
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Imagawa-Matsumoto Syndrome
Polymicrogyria, Agenesis of corpus callosum OMIM:618786
Craniosynostosis 6
Abnormal corpus callosum morphology, Spina bifida occulta, Microcephaly, Agenesis of corpus callo... OMIM:616602
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Agenesis of corpus callosum OMIM:250620
Vici Syndrome
Cerebellar hypoplasia, Death in infancy, Cerebral cortical atrophy, Optic atrophy, Agenesis of co... ORPHA:1493
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Hydrocephalus ORPHA:380
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Grubben-De Cock-Borghgraef Syndrome
Partial agenesis of the corpus callosum ORPHA:2101
Microhydranencephaly
Hypoplasia of the brainstem, Pachygyria, Cerebellar hypoplasia, Hydranencephaly, Microcephaly, Ag... OMIM:605013
Perching Syndrome
Respiratory distress OMIM:617055
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Agenesis of corpus callosum, Hydrocephalus OMIM:109120
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Respiratory distress, Aspiration, Peripheral hy... OMIM:618733
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Hypoplasia of the corpus callosum, Abnormal globus pallidus morphology, Microcephaly, Agenesis of... OMIM:618603
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Microcephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimuation test OMIM:615286
Holoprosencephaly, Recurrent Infections, And Monocytosis
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum OMIM:610680
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:164180
Joubert Syndrome With Renal Defect
Apnea, Hydrocephalus, Cerebellar vermis hypoplasia, Aganglionic megacolon, Polymicrogyria, Abnorm... ORPHA:220497
Myopathy And Diabetes Mellitus
Peripheral axonal neuropathy, Respiratory distress ORPHA:2596
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Cerebellar v... OMIM:616900
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Leukoencephalopathy OMIM:614924
Pontocerebellar Hypoplasia Type 2
Hypoplasia of the brainstem, Apnea, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplas... ORPHA:2524
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Agenesis of corpus callosum ORPHA:166024
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus OMIM:618577
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Lissencephaly 6 With Microcephaly
Pachygyria, Hypoplasia of the corpus callosum, Polymicrogyria, Simplified gyral pattern, Microcep... OMIM:616212
Fumarase Deficiency
Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebral atrophy, Polymicrogyria, Micro... OMIM:606812
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Sleep apnea, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Hypoplastic anterio... OMIM:616975
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Aplasia/Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, P... OMIM:616819
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Peripheral axonal neuropathy, Dysplastic corpus callosum, Neonatal death, Cerebellar hypoplasia OMIM:618810
Baraitser-Winter Syndrome 2
Secondary microcephaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly OMIM:614583
Ring Chromosome 22 Syndrome
Neurofibromas, Absent septum pellucidum, Pleural effusion, Microcephaly, Agenesis of corpus callosum ORPHA:1446
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Hydrocephalus, Holoprosencephaly,... OMIM:253800
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Colpocephaly, Aspiration, Death in childhood, Optic atrophy, Agenesi... OMIM:618651
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Microcephaly, Optic atrophy, Agenesis of corpus callosum OMIM:300004
Chromosome 3Q13.31 Deletion Syndrome
Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:615433
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Inspiratory stridor, Myelomeningocele, Agenesis of corpus callosum OMIM:207950
Brown-Vialetto-Van Laere Syndrome 1
Stridor, Respiratory distress, Dyspnea, Respiratory insufficiency, Facial palsy, Cranial nerve mo... OMIM:211530
Al-Gazali-Bakalinova Syndrome
Agenesis of corpus callosum OMIM:607131
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cavum septum pellucidum, Cerebellar vermis hypoplasia, Sleep apnea, Partial agenesis of the corpu... OMIM:619074
Cutis Laxa, Autosomal Recessive, Type Iib
Microcephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:612940
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... OMIM:245590
Subependymal Nodular Heterotopia
Meningocele, Polymicrogyria, Focal cortical dysplasia, Myelomeningocele, Partial agenesis of the ... ORPHA:101030
Maternal Uniparental Disomy Of Chromosome X
Microcephaly, Agenesis of corpus callosum ORPHA:261519
Igg4-Related Ophthalmic Disease
Abnormality of the anterior pituitary, Abnormality of infra-orbital nerve, Abnormal fifth cranial... ORPHA:449563
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Nonproductive cough, Respiratory insufficiency, Tracheom... ORPHA:60032
Mitochondrial Pyruvate Carrier Deficiency
Progressive microcephaly, Respiratory distress OMIM:614741
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:453521
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Cerebral white matter atrophy, Abnormal periventricular white matter morphology, Respiratory dist... ORPHA:329178
Walker-Warburg Syndrome
Pachygyria, Agenesis of corpus callosum, Hydrocephalus, Absent septum pellucidum, Cerebellar hypo... ORPHA:899
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Primary microcephaly, Cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum ORPHA:466688
Joubert Syndrome With Ocular Defect
Apnea, Hydrocephalus, Cerebellar vermis hypoplasia, Aganglionic megacolon, Polymicrogyria, Abnorm... ORPHA:220493
Acromelic Frontonasal Dysostosis
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hypopituitarism, Upper airway obs... OMIM:603671
Myotonic Dystrophy 1
Cerebral atrophy, Respiratory distress, Facial diplegia OMIM:160900
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Pulmonary arterial hypertension, Basal ganglia cysts, Agenesis of corpus callosum OMIM:613623
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Small cerebral cortex, Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum OMIM:617360
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Stridor ORPHA:137935
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Ap... ORPHA:70474
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Agenesis of corpus callosum, Aqueductal stenosis ORPHA:1496
Arnold-Chiari Malformation Type Ii
Apnea, Hydrocephalus, Inspiratory stridor, Pneumonia, Aqueductal stenosis, Meningocele, Polymicro... ORPHA:1136
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus OMIM:218350
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Tachypnea OMIM:267450
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Fanconi Anemia, Complementation Group I
Colpocephaly, Absent septum pellucidum, Optic nerve hypoplasia, Microcephaly, Agenesis of corpus ... OMIM:609053
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Microcephaly, Cerebral atrophy, Respiratory distress OMIM:618426
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Agenesis of corpus callosum ORPHA:93267
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Peripheral demyelination OMIM:616733
Gaucher Disease Type 2
Cough, Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Hydrocephalus, Hypoplasia of the ... OMIM:614643
Mental Retardation, Buenos Aires Type
Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:249630
Pleural Mesothelioma
Dyspnea, Respiratory distress, Abnormal respiratory system physiology, Pleural effusion, Cough ORPHA:50251
Trichothiodystrophy 4, Nonphotosensitive
Cerebral cortical atrophy, Optic atrophy, Microcephaly, Partial agenesis of the corpus callosum OMIM:234050
Septo-Optic Dysplasia Spectrum
Aplasia/Hypoplasia of the cerebellum, Absent septum pellucidum, Anterior pituitary hypoplasia, Op... ORPHA:3157
Succinic Acidemia
Respiratory distress OMIM:600335
Lissencephaly, X-Linked, 2
Pachygyria, Agenesis of corpus callosum, Lissencephaly OMIM:300215
6Q25 Microdeletion Syndrome
Microcephaly, Agenesis of corpus callosum ORPHA:251056
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Hydrocephalus OMIM:175700
Congenital Disorder Of Glycosylation, Type Ie
Secondary microcephaly, Optic atrophy, Respiratory distress OMIM:608799
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Respiratory insufficiency, Re... ORPHA:254875
Multiple Carboxylase Deficiency
Tachypnea, Optic atrophy, Respiratory distress ORPHA:148
Frontonasal Dysplasia 1
Lipoma of corpus callosum, Agenesis of corpus callosum OMIM:136760
Beare-Stevenson Cutis Gyrata Syndrome
Optic atrophy, Agenesis of corpus callosum, Hydrocephalus, Respiratory distress OMIM:123790
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Agenesis of corpus callosum ORPHA:521308
Cryptogenic Organizing Pneumonia
Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distress, Cough, Nonproductive cou... ORPHA:1302
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Gonadotropin deficiency, Restrictive ventilatory defect, Wheezing, Respiratory distress, Oxygen d... OMIM:610978
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Agenesis of corpus callosum OMIM:300472
Curry-Jones Syndrome
Optic disc coloboma, Agenesis of corpus callosum ORPHA:1553
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Septo-optic dysplasia, Agenesis of corpus callosum, Hydrocephalus ORPHA:3301
4Q21 Microdeletion Syndrome
Cerebellar hypoplasia, Agenesis of corpus callosum ORPHA:238750
Meckel Syndrome 12
Microcephaly, Cerebral hypoplasia, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:616258
Stromme Syndrome
Stillbirth, Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Optic nerve hypop... OMIM:243605
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Exertional dyspnea, Respiratory insufficiency due to muscle weakness, Leuko... OMIM:220110
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Microcephaly, Cough, Dyspnea, Respiratory distress ORPHA:86812
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Hypoplasia of the corpus callosum, Anterior pituitary hypoplasia, Optic n... OMIM:206900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Respiratory distress ORPHA:289916
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory distress, Respiratory failure, Microcephaly, Optic atrophy ORPHA:2707
Hydrolethalus
Agenesis of corpus callosum, Absent septum pellucidum, Arrhinencephaly, Anencephaly, Hydrocephalus ORPHA:2189
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sleep apnea, Agenesis of corpus callosum, Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walk... ORPHA:459061
Curry-Jones Syndrome
Hemimegalencephaly, Polymicrogyria, Megalencephaly, Agenesis of corpus callosum OMIM:601707
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Death in infancy, Neonatal respi... OMIM:610921
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Basal ganglia cysts, Respiratory distress, Intracerebral periventricular calcifications, R... OMIM:608836
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cough, Respiratory failure, Respiratory distress OMIM:263000
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Pachygyria, Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, ... ORPHA:468631
Intellectual Developmental Disorder, Autosomal Dominant 65
Dysgenesis of the hippocampus, Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Atelectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Hypoplasia of the corpus callosum, Respiratory distress OMIM:617102
Encephalocraniocutaneous Lipomatosis
Porencephalic cyst, Hydrocephalus, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cort... OMIM:613001
Developmental And Epileptic Encephalopathy 68
Cerebral cortical atrophy, Microcephaly, Respiratory distress OMIM:618201
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmonary obstruction, Pleural effusion, C... ORPHA:411703
Mitochondrial Complex I Deficiency, Nuclear Type 37
Corpus callosum atrophy, Respiratory distress, Cerebral atrophy, Cerebral cortical atrophy, Pulmo... OMIM:619272
Cryptococcosis
Abnormal cranial nerve morphology, Dyspnea, Respiratory distress, Pleural effusion, Cough, Pneumo... ORPHA:1546
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Agenesis of corpus callosum OMIM:147950
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Respiratory distress ORPHA:79312
Mercury Poisoning
Dyspnea, Respiratory distress, Interstitial pneumonitis, Abnormal cerebral white matter morpholog... ORPHA:330021
Linear Skin Defects With Multiple Congenital Anomalies 3
Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300952
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Hypointensity of cerebral white matter on MRI, Ab... ORPHA:206436
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Microcephaly, Respiratory distress ORPHA:261304
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ventilator dependence with inability to wean, Respiratory failure requiring assisted ventilation,... ORPHA:254864
Spinocerebellar Ataxia, X-Linked 3
Episodic respiratory distress, Death in infancy, Episodic hypoventilation, Optic atrophy, Optic d... OMIM:301790
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Hydrocephalus, Cerebellar vermis hypoplasia, Neonatal respiratory distress, Polymicro... ORPHA:157
Acromelic Frontonasal Dysplasia
Hypopituitarism, Anterior pituitary hypoplasia, Meningocele, Upper airway obstruction, Hypoplasia... ORPHA:1827
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Hydrocephalus, Hypoplasia of the ... OMIM:236670
Apert Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Respiratory insufficiency, Optic atrophy, ... ORPHA:87
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Cavum septum pellucidum, Respiratory distress, Hypoplasia of the corpus callosum, Cerebellar verm... OMIM:619383
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Global brain atrophy, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Optic nerve hypop... OMIM:301056
Baraitser-Winter Syndrome 1
Microcephaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly OMIM:243310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Hydrocephalus, Partial absence of... OMIM:613150
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Optic disc coloboma, Agenesis of corpus callosum ORPHA:52055
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Cerebellar hypoplasia, Tracheomalacia, Neonatal respiratory distress, Micro... OMIM:217980
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Colpocephaly OMIM:618619
Leigh Syndrome
Focal T2 hyperintense basal ganglia lesion, Hypoplasia of the corpus callosum, Diffuse spongiform... ORPHA:506
Brain Malformations With Or Without Urinary Tract Defects
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:613735
Staphylococcal Necrotizing Pneumonia
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Acute infectious pne... ORPHA:36238
Isolated Exencephaly
Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Posterior pituitary agenesis, Anterior p... ORPHA:563612
Japanese Encephalitis
Abnormality of thalamus morphology, Decreased motor nerve conduction velocity, Focal T2 hyperinte... ORPHA:79139
Alexander Disease
Sleep apnea, Hydrocephalus, Megalencephaly, Abnormal autonomic nervous system physiology, Respira... ORPHA:58
Malaria
Respiratory distress ORPHA:673
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Dilation of lateral ventricles, Cerebral cortical atrophy, Dys... ORPHA:488627
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Dyspnea, Respiratory distress, Bronchiectasis, Interstitial pneumonitis... OMIM:610913
Microcephaly 26, Primary, Autosomal Dominant
Recurrent pneumonia, Pachygyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, S... OMIM:619179
Bohring-Opitz Syndrome
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Microcephaly, Delayed peripheral ... OMIM:605039
Chromosome 5P13 Duplication Syndrome
Agenesis of corpus callosum OMIM:613174
Brain-Lung-Thyroid Syndrome
Cavum septum pellucidum, Respiratory distress, Elevated circulating thyroid-stimulating hormone c... ORPHA:209905
1Q44 Microdeletion Syndrome
Microcephaly, Agenesis of corpus callosum, Hydrocephalus ORPHA:238769
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Agenesis of cerebellar vermis, Agenesis of corpus callosum ORPHA:228390
Emanuel Syndrome
Hydrocephalus, Abnormal cerebral white matter morphology, Cerebral atrophy, Cough, Microcephaly, ... ORPHA:96170
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Death in infancy, Aganglionic megacolon, Cerebral cortical atrophy, Microcephaly, Optic atrophy, ... ORPHA:847
Microgastria-Limb Reduction Defects Association
Porencephalic cyst, Arrhinencephaly, Fusion of the left and right thalami, Aganglionic megacolon,... OMIM:156810
Coffin-Siris Syndrome 11
Agenesis of corpus callosum OMIM:618779
Foxg1 Syndrome Due To 14Q12 Microdeletion
Microcephaly, Agenesis of corpus callosum ORPHA:261144
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Agenesis of corpus callosum, Hydrocephalus ORPHA:77298
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly, Septo-optic d... OMIM:301043
Tetanus
Tachypnea, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction, Respirato... ORPHA:3299
Synaptic Congenital Myasthenic Syndromes
Sleep apnea, Decreased size of nerve terminals, Respiratory distress, Hypoventilation, Exertional... ORPHA:98915
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Hypoplasia of the corpus callosum, Microcephaly, Respiratory distress ORPHA:544503
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the brainstem, Global brain atrophy, Hypoplasia of the corpus callosum, Hyperintens... ORPHA:481152
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Atelectasis, Neonatal asphyxia, Aspiration pneumonia, Pulmonary a... ORPHA:70588
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Microform Holoprosencephaly
Panhypopituitarism, Holoprosencephaly, Asthma, Microcephaly, Agenesis of corpus callosum ORPHA:280200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Hydrocephalus, Cerebellar vermis hypoplasia, Intracerebral periventricular calcificat... ORPHA:228308
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Hypoplasia of the corpus callosum, Respiratory insufficiency, Microcephaly, Agenesis of corpus ca... OMIM:617260
Microphthalmia With Brain And Digit Anomalies
Microcephaly, Inferior vermis hypoplasia, Agenesis of corpus callosum ORPHA:139471
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Death in childhood, Cerebral calcification, Recurrent pneumonia, Microcepha... OMIM:617303
Opitz Gbbb Syndrome, Type I
Agenesis of corpus callosum, Aspiration OMIM:300000
Marden-Walker Syndrome
Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior vermis hypoplasia, Microcephaly, Age... OMIM:248700
Orofaciodigital Syndrome Type 5
Microcephaly, Aganglionic megacolon, Agenesis of corpus callosum ORPHA:2919
Temtamy Syndrome
Agenesis of corpus callosum OMIM:218340
Cerebrofacioarticular Syndrome
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Tracheomalacia, Dysplastic corpu... ORPHA:314679
Laryngeal Web, Familial
Stridor, Respiratory distress OMIM:150360
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Hypoplasia of the corpus callosum, Olivopontocerebellar hypoplasia, Optic nerve hy... ORPHA:457284
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Hypoplasia of the corpus callosum, Microcephaly, Respiratory dis... ORPHA:2519
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Respiratory failure, Tachypnea, Hypoxemia ORPHA:178320
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonary arterial ... ORPHA:2414
Marshall-Smith Syndrome
Apnea, Cerebral atrophy, Macrogyria, Death in childhood, Pulmonary arterial hypertension, Recurre... OMIM:602535
Thyroid Lymphoma
Upper airway obstruction, Stridor, Dyspnea, Respiratory distress ORPHA:97285
Brooks-Wisniewski-Brown syndrome
Microcephaly, Cerebral atrophy, Agenesis of corpus callosum, Optic atrophy OMIM:300612
Congenital Laryngeal Web
Stridor, Respiratory distress ORPHA:2374
Nizon-Isidor Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:618872
Moebius Syndrome
Hypoplasia of the brainstem, Facial diplegia, Respiratory distress OMIM:157900
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agenesis of the corpus ca... OMIM:619103
Melas
Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the cerebral white matter, Cerebral cort... ORPHA:550
Trisomy 1Q
Cerebellar hypoplasia, Agenesis of corpus callosum, Hydrocephalus ORPHA:261344
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Diaphanospondylodysostosis
Myelomeningocele, Respiratory distress ORPHA:66637
Anaplastic Thyroid Carcinoma
Dyspnea, Respiratory distress, Cough, Upper airway obstruction, Stridor ORPHA:142
Xp21 Deletion Syndrome
Apneic episodes in infancy, Agenesis of corpus callosum ORPHA:261476
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Cerebellar vermis hypoplasia, Dilation of late... OMIM:304050
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618419
Desmosterolosis
Pachygyria, Hydrocephalus, Absent septum pellucidum, Polymicrogyria, Abnormal cortical gyration, ... ORPHA:35107
Avian Influenza
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Pneumonia, Productiv... ORPHA:454836
Kleefstra Syndrome Due To 9Q34 Microdeletion
Absent septum pellucidum, Subcortical cerebral atrophy, Cerebral cortical atrophy, Microcephaly, ... ORPHA:96147
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Polymicrogyria, Pachygyria ORPHA:2328
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic anterior pituitary gland, Absent septum pellucidum, Holoprosencephaly, Anterior pituitary... ORPHA:95494
Pyruvate Carboxylase Deficiency
Basal ganglia gliosis, Agenesis of corpus callosum, Cerebral white matter atrophy, Increased caud... ORPHA:3008
Spinal muscular atrophy, type I, with congenital bone fractures
Degeneration of anterior horn cells, Respiratory distress OMIM:271225
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Microcephaly, Respiratory distress ORPHA:927
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Respiratory distress ORPHA:226313
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Immotile cilia, Sinusitis OMIM:606763
Bohring-Opitz Syndrome
Apnea, Hypoplasia of the corpus callosum, Microcephaly, Optic atrophy, Obstructive sleep apnea, A... ORPHA:97297
Odontochondrodysplasia
Death in infancy, Respiratory distress ORPHA:166272
Toriello-Lacassie-Droste Syndrome
Aganglionic megacolon, Agenesis of corpus callosum, Absent septum pellucidum ORPHA:3339
Autosomal Recessive Cutis Laxa Type 2A
Pachygyria, Thick cerebral cortex, Cerebellar vermis hypoplasia, Primary microcephaly, Dysplastic... ORPHA:357058
Pseudotrisomy 13 Syndrome
Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Polymicrogyria, Microcephaly, Agenesis o... OMIM:264480
Nipah Virus Disease
Cough, Respiratory distress ORPHA:99825
Microlissencephaly-Micromelia Syndrome
Secondary microcephaly, Cerebellar hypoplasia, Respiratory distress, Lissencephaly ORPHA:50810
Sotos Syndrome 1
Cavum septum pellucidum, Partial agenesis of the corpus callosum OMIM:117550
Genitopatellar Syndrome
Microcephaly, Apnea, Agenesis of corpus callosum ORPHA:85201
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Hyperintensity of cerebral white matter on MRI, Asthma, Thick corpus ... ORPHA:544488
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Agenesis of corpus callosum, Interhypothalamic Adhesion OMIM:618929
Spondylometaphyseal Dysplasia, Sedaghatian Type
Pachygyria, Cardiorespiratory arrest, Cerebellar hypoplasia, Respiratory insufficiency, Agenesis ... ORPHA:93317
Radio-Tartaglia Syndrome
Microcephaly, Agenesis of corpus callosum OMIM:619312
Histiocytoid Cardiomyopathy
Hydrocephalus, Cough, Tachypnea, Optic atrophy, Agenesis of corpus callosum ORPHA:137675
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2759
Basel-Vanagaite-Smirin-Yosef Syndrome
Cavum septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy, Recurrent pneumonia... ORPHA:464738
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Cerebral atrophy, Pulmonary embolism, Periventricular white matter hyperden... ORPHA:79282
Semilobar Holoprosencephaly
Panhypopituitarism, Hydrocephalus, Abnormal hypothalamus physiology, Central apnea, Neural tube d... ORPHA:220386
Alobar Holoprosencephaly
Panhypopituitarism, Hydrocephalus, Abnormal hypothalamus physiology, Central apnea, Neural tube d... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Panhypopituitarism, Hydrocephalus, Abnormal hypothalamus physiology, Central apnea, Neural tube d... ORPHA:93926
Lobar Holoprosencephaly
Panhypopituitarism, Hydrocephalus, Abnormal hypothalamus physiology, Central apnea, Neural tube d... ORPHA:93924
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebral ... ORPHA:261552
Holoprosencephaly 9
Panhypopituitarism, Holoprosencephaly, Anterior pituitary agenesis, Decreased response to growth ... OMIM:610829
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebral atrophy, Microcephaly, ... OMIM:615802
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Holoprosencephaly, Hypoxemia, Agenesis of corpus callosum ORPHA:556955
Monosomy 13Q34
Microcephaly, Agenesis of corpus callosum, Epistaxis ORPHA:96168
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Hydrocephalus ORPHA:1812
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Pachygyria, Respiratory distress OMIM:231680
16P13.11 Microdeletion Syndrome
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum ORPHA:261236
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Hypoplasia of olfactory tra... ORPHA:314621
Donnai-Barrow Syndrome
Aplasia/Hypoplasia of the corpus callosum, Partial agenesis of the corpus callosum OMIM:222448
Holoprosencephaly 7
Semilobar holoprosencephaly, Panhypopituitarism, Hydrocephalus, Fusion of the left and right thal... OMIM:610828
Kleefstra Syndrome
Dyspnea, Tracheomalacia, Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum ORPHA:261494
Tularemia
Pleural effusion, Cough, Pneumonia, Respiratory distress ORPHA:3392
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Chromosome 13Q33-Q34 Deletion Syndrome
Microcephaly, Agenesis of corpus callosum, Dandy-Walker malformation, Anencephaly OMIM:619148
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Focal T2 hyperintense basal ganglia lesion, Episodic respiratory distress, Dyspnea, Optic ... ORPHA:255210
Congenital Myasthenic Syndrome
Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Apneic episodes precip... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Apneic episodes precip... ORPHA:98914
Mismatch Repair Cancer Syndrome 1
Plexiform neurofibroma, Agenesis of corpus callosum OMIM:276300
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Nasal flaring, Respiratory failure, Tachypnea, Hypoxemia ORPHA:70587
Biotinidase Deficiency
Apnea, Respiratory distress, Optic neuropathy, Optic atrophy, Hyperventilation ORPHA:79241
Intellectual Disability-Strabismus Syndrome
Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum, Decreased response ... ORPHA:363528
Thakker-Donnai Syndrome
Communicating hydrocephalus, Agenesis of corpus callosum ORPHA:1780
Hypoglossia With Situs Inversus
Upper airway obstruction, Respiratory distress OMIM:612776
Fryns Syndrome
Cerebral cortical atrophy, Aganglionic megacolon, Agenesis of corpus callosum, Dandy-Walker malfo... ORPHA:2059
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Agenesis of corpus callosum OMIM:309520
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:612582
Tetrasomy 5P
Respiratory distress, Lipoma of corpus callosum, Cerebellar hypoplasia, Pulmonary arterial hypert... ORPHA:3309
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Stridor, Respiratory distress, Cerebral calcification, Pulmonary arterial hypertension, Optic atr... ORPHA:505248
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Agenesis of corpus callosum, Pituitary hypothyroidism, Ectopic posterior pitu... ORPHA:226307
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Polymicrogyria, Agenesis of corpus callosum,... ORPHA:1692
Diaphanospondylodysostosis
Polymicrogyria, Tracheomalacia, Respiratory distress, Respiratory insufficiency OMIM:608022
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Agenesis of corpus callosum, Anterior pituitary hypoplasia ORPHA:264200
Mosaic Variegated Aneuploidy Syndrome 1
Hypodysplasia of the corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Microcephaly, Cerebra... OMIM:257300
Vici Syndrome
Microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Schizencephaly OMIM:242840
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Optic nerve hypopl... ORPHA:508498
Aicardi Syndrome
Aplasia/Hypoplasia of the cerebellum, Pachygyria, Optic disc coloboma, Polymicrogyria, Microcepha... ORPHA:50
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Apert Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Megalencephaly, Abnormal morphology of the... OMIM:101200
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum, Tracheomalacia ORPHA:268249
Osteopathia Striata With Cranial Sclerosis
Apnea, Tracheomalacia, Facial palsy, Spina bifida occulta, Hydrocephalus, Partial agenesis of the... OMIM:300373
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus, Absent septum pellucidum, Microcephaly, Agenesis of corpus callosum OMIM:309801
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypoplasia of the corpus callosum, Microcephaly, Dysplastic corpus callosum OMIM:618569
Slc35A1-Cdg
Hypoxemia, Respiratory distress, Pneumonia ORPHA:238459
Odontochondrodysplasia 1
Death in infancy, Respiratory distress OMIM:184260
Encephalocraniocutaneous Lipomatosis
Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy, Cerebral cortical atrop... ORPHA:2396
Orofaciodigital Syndrome I
Hypothalamic hamartoma, Porencephalic cyst, Hydrocephalus, Abnormal cortical gyration, Microcepha... OMIM:311200
Ramos-Arroyo Syndrome
Primary microcephaly, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Respir... ORPHA:1051
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Optic atrophy, Respiratory distress, Hydrocephalus ORPHA:1555
Acrocallosal Syndrome
Optic atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum OMIM:200990
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Respiratory distress ORPHA:464453
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Abnormal cortical... OMIM:300968
Phace Syndrome
Cerebellar hypoplasia, Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum, Dandy-W... ORPHA:42775
8P Inverted Duplication/Deletion Syndrome
Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:96092
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Desmosterolosis
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Partial agenesis of the c... OMIM:602398
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Intermittent hyper... ORPHA:348
Holoprosencephaly 2
Holoprosencephaly, Anterior pituitary agenesis, Cerebellar hypoplasia, Microcephaly, Agenesis of ... OMIM:157170
15Q Overgrowth Syndrome
Pulmonary arterial hypertension, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malform... ORPHA:314585
Cono-Spondylar Dysplasia
Partial agenesis of the corpus callosum ORPHA:420794
Holocarboxylase Synthetase Deficiency
Tachypnea, Respiratory distress ORPHA:79242
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Fryns Syndrome
Hypoplasia of the optic tract, Stillbirth, Arrhinencephaly, Hypoplasia of olfactory tract, Agangl... OMIM:229850
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Respiratory distress, Aspiration pneumonia, Recurrent pneumonia ORPHA:314655
Genitourinary And/Or Brain Malformation Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Dysplastic corpus callo... OMIM:618820
Mandibulofacial Dysostosis, Guion-Almeida Type
Microcephaly, Progressive microcephaly, Respiratory distress OMIM:610536
Hartsfield Syndrome
Microcephaly, Agenesis of corpus callosum, Lobar holoprosencephaly, Gonadotropin deficiency OMIM:615465
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Upper airway obstruction, C... ORPHA:137914
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Lenz-Majewski Hyperostotic Dwarfism
Facial palsy, Agenesis of corpus callosum, Hydrocephalus, Absent septum pellucidum ORPHA:2658
Opitz Gbbb Syndrome, Type Ii
Cavum septum pellucidum, Aspiration, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Apl... OMIM:145410
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum ORPHA:363444
Ethylene Glycol Poisoning
Episodic respiratory distress, Facial palsy, Abnormal pattern of respiration, Tachypnea, Cerebral... ORPHA:31826
21Q22.11Q22.12 Microdeletion Syndrome
Microcephaly, Agenesis of corpus callosum ORPHA:261323
Cryptosporidiosis
Wheezing, Respiratory distress, Cough, Respiratory failure, Hypoxemia ORPHA:1549
Craniofrontonasal Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:304110
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callo... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callo... ORPHA:352665
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Respiratory distress, Pheochromocytoma, Carcinoid tumor, Cortical dys... ORPHA:805
Mosaic Trisomy 8
Agenesis of corpus callosum ORPHA:96061
Gaucher Disease, Perinatal Lethal
Microcephaly, Apnea, Respiratory distress OMIM:608013
Trichothiodystrophy
Bronchospasm, Cerebral dysmyelination, Cerebral cortical atrophy, Periventricular leukomalacia, M... ORPHA:33364
Opitz Gbbb Syndrome
Hypoplasia of the corpus callosum, Tracheomalacia, Abnormal corpus callosum morphology, Aplasia/H... ORPHA:2745
Hydrolethalus Syndrome 1
Severe hydrocephalus, Stillbirth, Absent septum pellucidum, Arrhinencephaly, Anencephaly, Abnorma... OMIM:236680
Congenital Disorder Of Deglycosylation
Microcephaly, Central sleep apnea, Decreased sensory nerve conduction velocity, Respiratory distress OMIM:615273
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal neuron branching, Respiratory distress, Respiratory insufficiency ORPHA:367
Fanconi Anemia, Complementation Group D2
Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:227646
Baller-Gerold Syndrome
Agenesis of corpus callosum, Polymicrogyria, Spina bifida occulta, Optic atrophy, Hydrocephalus OMIM:218600
Glycogen Storage Disease Due To Acid Maltase Deficiency
Sleep apnea, Respiratory distress, Exertional dyspnea, Orthopnea, Respiratory insufficiency, Resp... ORPHA:365
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Hydrocephalus, Hypoplasia of the corpus callosum, Tracheomalacia, Microcephaly, Opt... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Hydrocephalus, Hypoplasia of the corpus callosum, Tracheomalacia, Microcephaly, Opt... ORPHA:363958
Right Atrial Isomerism
Agenesis of corpus callosum OMIM:208530
1Q21.1 Microdeletion Syndrome
Microcephaly, Agenesis of corpus callosum, Hydrocephalus ORPHA:250989
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Microcephaly, Respiratory distress ORPHA:438216
Microphthalmia With Linear Skin Defects Syndrome
Dyspnea, Respiratory distress, Hydrocephalus, Absent septum pellucidum, Respiratory failure, Micr... ORPHA:2556
Marden-Walker Syndrome
Hydrocephalus, Absent septum pellucidum, Cerebellar hypoplasia, Microcephaly, Agenesis of corpus ... ORPHA:2461
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Inhalational Anthrax
Dyspnea, Respiratory distress ORPHA:247257
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Agenesis of corpus callosum OMIM:613091
Neu-Laxova Syndrome 1
Spina bifida, Stillbirth, Cerebellar hypoplasia, Hydranencephaly, Lissencephaly, Microcephaly, Ag... OMIM:256520
Jacobsen Syndrome
Spina bifida, Pachygyria, Cerebral atrophy, Death in infancy, Agenesis of corpus callosum ORPHA:2308
Campomelic Dysplasia
Apnea, Tracheobronchomalacia, Respiratory distress, Hydrocephalus OMIM:114290
Zttk Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Cerebellar hypoplas... OMIM:617140
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Restrictive ventilatory defect, Respiratory distress, Tracheomalacia, Respiratory insufficiency, ... ORPHA:536467
Meckel Syndrome, Type 1
Hydrocephalus, Cerebellar hypoplasia, Anencephaly, Olfactory lobe agenesis, Microcephaly, Cerebra... OMIM:249000
Yunis-Varon Syndrome
Pachygyria, Arrhinencephaly, Cerebellar hypoplasia, Pulmonary arterial hypertension, Microcephaly... OMIM:216340
Wolf-Hirschhorn Syndrome
Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Microcephaly, Agenesis of corpus callosum ORPHA:280
Adnp Syndrome
Respiratory distress, Aspiration, Hypoplasia of the corpus callosum, Cerebral atrophy, Microcepha... ORPHA:404448
Perlman Syndrome
Agenesis of corpus callosum OMIM:267000
Structural Heart Defects And Renal Anomalies Syndrome
Microcephaly, Death in infancy, Partial agenesis of the corpus callosum OMIM:617478
Coffin-Siris Syndrome
Aspiration pneumonia, Simplified gyral pattern, Microcephaly, Agenesis of corpus callosum, Dandy-... ORPHA:1465
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Apnea, Respiratory distress, Cerebral atrophy, Leukoencephalopathy, Microcephaly, Abnormal basal ... ORPHA:17
Lenz-Majewski Hyperostotic Dwarfism
Microcephaly, Agenesis of corpus callosum OMIM:151050
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis, Respiratory distress, Tracheomalacia ORPHA:93259
Alternating Hemiplegia Of Childhood
Apnea, Aspiration, Abnormal autonomic nervous system physiology, Respiratory distress ORPHA:2131
Trisomy 8P
Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:264450
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Aganglionic megacolon, Respiratory distress ORPHA:210122
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Opitz-Kaveggia Syndrome
Hydrocephalus, Partial agenesis of the corpus callosum OMIM:305450
Lymphatic Malformation 7
Respiratory distress OMIM:617300
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Pleural effusion, Respiratory failure, Chylothorax ORPHA:3015
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Tachypnea, Episodic tachypnea, Pneumonia, Respiratory distress ORPHA:26793
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Congenital Enterovirus Infection
Pleural effusion, Respiratory distress ORPHA:292
Microgastria-Limb Reduction Defect Syndrome
Arrhinencephaly, Abnormal cortical gyration, Agenesis of corpus callosum, Absent septum pellucidum ORPHA:2538
Hemifacial Microsomia
Agenesis of corpus callosum, Hydrocephalus OMIM:164210
Mowat-Wilson Syndrome
Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the cerebral white matter, Aganglionic m... OMIM:235730
Facial Dysmorphism With Multiple Malformations
Agenesis of corpus callosum, Hydrocephalus OMIM:227255
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Pachygyria, Stillbirth, Hypoplasia of the frontal lobes, Microcephaly, Agenesis of cerebellar ver... OMIM:210710
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Anterior pituitary hypoplasia, Cerebral cortical atrophy, Microcephaly, Dil... ORPHA:177907
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Global brain atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morpholog... ORPHA:500150
Orofaciodigital Syndrome Type 14
Sleep apnea, Hypoplasia of the corpus callosum, Dilated third ventricle, Microcephaly, Open operc... ORPHA:434179
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Elevated circulating follicle stimulating hormone level, Elev... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Elevated circulating follicle stimulating hormone level, Elev... ORPHA:289548
Renal Dysplasia-Limb Defects Syndrome
Neonatal death, Respiratory failure, Respiratory distress, Pneumothorax OMIM:266910
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:619194
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent septum pellucidum, Cerebellar hypoplasia, Aganglionic megacolon, Subcortical cerebral atro... ORPHA:2273
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Agenesis of corpus callosum OMIM:618748
Auriculocondylar Syndrome
Obstructive sleep apnea, Respiratory distress, Snoring ORPHA:137888
Holoprosencephaly 1
Ethmocephaly, Cerebellar hypoplasia, Alobar holoprosencephaly, Microcephaly, Agenesis of corpus c... OMIM:236100
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Respiratory distress, Tracheomalacia ORPHA:93260
Farber Disease
Respiratory distress, Respiratory insufficiency, Atelectasis ORPHA:333
Bacterial Toxic-Shock Syndrome
Respiratory distress, Tachypnea, Pneumonia, Sinusitis ORPHA:36234
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Respiratory distress OMIM:183900
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Lipoma of corpus callosum, Agenesis of corpus callosum ORPHA:306542
Ring Chromosome 13 Syndrome
Microcephaly, Agenesis of corpus callosum, Anencephaly ORPHA:96176