Gene Summary

Name:
lamin B2
Synonyms:
lamin B3

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating bilirubin level Lmnb2tm1a(KOMP)Wtsi HET Early adult 1.53×10-14

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 50% (1 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 50% (1 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote Ambiguous
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 50% (1 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

7 Images

Legacy Phenotype Associated Images

View all 109 images

Human diseases caused by Lmnb2 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 Lmnb2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microcephaly 27, Primary, Autosomal Dominant
Primary microcephaly, Simplified gyral pattern OMIM:619180
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration OMIM:608709
Acquired Partial Lipodystrophy
ORPHA:79087
Epilepsy, Progressive Myoclonic, 9
OMIM:616540

The table below shows human diseases predicted to be associated to Lmnb2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebellar dys... OMIM:604213
Lissencephaly 1
Pachygyria, Gray matter heterotopia, Abnormal cerebral white matter morphology, Cerebellar hypopl... OMIM:607432
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Agyri... OMIM:615411
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Pachygyria, Gray matter heterotopia, Cortical dysplasia, Agyria, Microcephaly, Subcortical band h... OMIM:615412
Mental Retardation, Autosomal Recessive 34, With Variant Lissencephaly
Megalencephaly, Pachygyria, Lissencephaly OMIM:614499
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Small cerebral cortex, Abnormal cerebral morphology, Abnormal cerebellum morphology, Simplified g... ORPHA:329228
Microcephaly 7, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern OMIM:616080
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory insufficiency, Cerebral dysmyelination, Respiratory failure, Death in ... OMIM:611722
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormality of neuronal m... OMIM:604317
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Subcortical heterotopia, Abnormality of neuronal migration, Po... ORPHA:101029
Lissencephaly 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cerebellar vermis hypopla... OMIM:611603
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Thick cerebral cortex, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Periventricular ... OMIM:618677
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Unilateral polymicrogyria, ... OMIM:610031
Lissencephaly, X-Linked, 1
Pachygyria, Gray matter heterotopia, Death in infancy, Agyria, Agenesis of corpus callosum, Lisse... OMIM:300067
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Microcephaly, Cerebellar hypoplasia OMIM:618572
Lissencephaly 4
Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Agenesis of corpus callosum, Lisse... OMIM:614019
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microcephaly, Polymicrogyria, Cortical dysplasia, Cerebellar hypoplasia OMIM:615771
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia, Agenesis of... OMIM:600348
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Pachygyria, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebral white matter hypoplasia... OMIM:618730
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Abnormal cerebral white matter morphology, Cerebe... ORPHA:352682
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Gray matter heterotopia... ORPHA:300573
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Abnormal corpus callosum morphology, Cortical dysplasia, Micro... OMIM:618709
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Hypoplasia of the corpus callosum, Periventricular nodular heterotop... OMIM:608097
Lissencephaly 5
Porencephalic cyst, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus call... OMIM:615191
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Megalencephaly, Hydrocephalus OMIM:615938
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Polymicrogyria, Cerebellar hypoplasia, Agenesis of corpus callosum ORPHA:171703
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Microcephaly OMIM:618185
Glaucoma-Sleep Apnea Syndrome
Sleep apnea, Respiratory insufficiency ORPHA:2085
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Pachygyria OMIM:614173
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Hypoplasia of the corpus callosum, Cerebral atrophy, Polymicrogyria, Cerebellar atrophy, Microcep... OMIM:618973
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Small cerebral cortex, Cortical dysplas... OMIM:608716
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Cerebellar atrophy, Simplified gyral pattern, Microcephaly, Pr... OMIM:613402
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Gray ... OMIM:617201
Symmetrical Thalamic Calcifications
Microcephaly, Cerebral calcification, Respiratory insufficiency, Abnormality of neuronal migration ORPHA:1314
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Lissencephaly 9 With Complex Brainstem Malformation
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Microcephaly, Lissencephaly OMIM:618325
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hemimegalencephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Hydrocephalus OMIM:615937
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Lissencephaly 2
Thick cerebral cortex, Cerebellar hypoplasia, Microcephaly, 4-layered lissencephaly, Lissencephal... OMIM:257320
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Pontocerebellar Hypoplasia, Type 1C
Hypoplasia of the corpus callosum, Respiratory failure, Cerebral cortical atrophy, Respiratory in... OMIM:616081
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Cerebellar cyst, Abnormal cerebral white matter morphology, Ce... OMIM:613153
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Hypoplasia of the corpus callosum, Respiratory insufficiency due to muscle weakness, Cerebral cor... OMIM:618291
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia, Cerebellar cyst, Abnormal cerebral white matter morphology, ... ORPHA:370980
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Gray matter heterotopia, Cerebellar cyst, Cereb... OMIM:615960
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Pachygyria, Neuronal loss in the cerebral cortex, Neonatal respirator... ORPHA:168486
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Mental Retardation, Autosomal Dominant 13
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Abnormality of neuronal mig... OMIM:614563
Microcephaly 3, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Simplified gyral pattern OMIM:604804
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Bilateral Striopallidodentate Calcinosis
Microcephaly, Cerebral calcification, Abnormality of neuronal migration ORPHA:1980
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency OMIM:253300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar dysplasia, Polymicrogyr... OMIM:615181
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Hippocampal atrophy, Respiratory insufficiency OMIM:617892
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Cerebral atrophy, Respiratory insufficiency, Respiratory failure, Microcephaly OMIM:610127
Cortical Malformations, Occipital
Polymicrogyria, Pachygyria OMIM:614115
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Holoprosencephaly, Abnormality of neuronal mi... ORPHA:945
Lissencephaly 6 With Microcephaly
Pachygyria, Periventricular heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Cereb... OMIM:616212
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
3-Hydroxyisobutyric Aciduria
Microcephaly, Abnormality of neuronal migration, Congenital intracerebral calcification OMIM:236795
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Reduced maximal inspiratory pressure, Respiratory insuffi... ORPHA:266
Microcephaly 17, Primary, Autosomal Recessive
Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Microlissencephaly, Agenesis of co... OMIM:617090
Pontocerebellar Hypoplasia, Type 4
Microcephaly, Respiratory failure, Death in infancy OMIM:225753
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Cerebral atrophy, Neonatal respiratory distress, Respirato... OMIM:619057
Lissencephaly 7 With Cerebellar Hypoplasia
Cerebellar hypoplasia, Agyria, Microcephaly, Agenesis of corpus callosum, Lissencephaly OMIM:616342
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory distress, Respiratory insufficiency OMIM:614399
Multiple Mitochondrial Dysfunctions Syndrome 3
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Cerebral atrophy, R... OMIM:615330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Abnormal periventricular white matter morphology, Cerebellar hypoplasia, Abnormality ... OMIM:608840
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Respiratory failure, Aspirati... ORPHA:90117
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Abnormality of neuronal migration... ORPHA:89844
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebral cortical atrophy, Decreased th... OMIM:619072
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebella... OMIM:617751
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
3-Methylglutaconic Aciduria, Type Viii
Apnea, Hypoplasia of the corpus callosum, Cerebral atrophy, Death in infancy, Respiratory failure... OMIM:617248
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebral dysmyelination, Abnormal cerebellum ... ORPHA:101070
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Cerebral atrophy, Respiratory failure OMIM:618637
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Lethal Osteosclerotic Bone Dysplasia
Microcephaly, Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Cerebellar hypoplasia, Simplified gyral pattern, Agenesis of corpus callosum, H... OMIM:619301
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cerebral atrophy, Respiratory insufficiency due to muscle weakness, Neonatal death, Respiratory f... OMIM:611890
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Microcephaly, Agene... ORPHA:1528
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Respiratory failure, Respiratory insufficiency OMIM:600333
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Death in infancy, Cerebellar hypoplasia, Simplified gyral pattern, Agenesis of cor... OMIM:619302
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:605711
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:228940
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Li... OMIM:218670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Cerebellar hypoplasia, Anencephaly... OMIM:615287
Combined Oxidative Phosphorylation Deficiency 4
Microcephaly, Polymicrogyria, Respiratory failure, Death in infancy OMIM:610678
Subependymal Nodular Heterotopia
Gray matter heterotopia, Abnormality of neuronal migration, Meningocele, Polymicrogyria, Focal co... ORPHA:101030
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia, Hypoplasia of the corpus ca... ORPHA:255138
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, Agenesis of c... ORPHA:2512
Brain Small Vessel Disease 2
Polymicrogyria, Porencephalic cyst, Subcortical heterotopia, Schizencephaly OMIM:614483
Maternal Hyperthermia-Induced Birth Defects
Microcephaly, Abnormality of neuronal migration ORPHA:2216
Hemimegalencephaly
Pachygyria, Gray matter heterotopia, Polymicrogyria, Hyperintensity of cerebral white matter on M... ORPHA:99802
Spinocerebellar Ataxia Type 2
Cerebral white matter atrophy, Cerebellar Purkinje layer atrophy, Olivopontocerebellar hypoplasia... ORPHA:98756
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Focal T2 hyperintense basal ganglia lesion, Cerebral atrophy, Death in infancy, Respiratory insuf... OMIM:245400
Arthrogryposis Multiplex Congenita 6
Neonatal death, Respiratory failure, Death in infancy, Death in childhood OMIM:619334
Anemia, Congenital Dyserythropoietic, Type Iv
Hyperbilirubinemia OMIM:613673
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia... ORPHA:370959
Congenital Muscular Dystrophy With Intellectual Disability
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Respiratory ... ORPHA:370968
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Microcephaly, Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:2772
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dandy-Walker malformation, Gray m... OMIM:164180
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Hypercapnia, Respiratory failure, Respiratory insufficiency OMIM:267480
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Abnormal cortical gyration, Respiratory failure OMIM:616867
Hyperekplexia 4
Cerebral atrophy, Respiratory failure OMIM:618011
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Gray matter heterotopia, Arnold-Chiari malformation, Myelomeningocel... OMIM:207950
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cough, Respiratory failure, Respiratory distress OMIM:263000
Congenital Hydrocephalus
Colpocephaly, Small cerebral cortex, Abnormal cortical gyration, Hydrocephalus, Lissencephaly ORPHA:2185
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar vermis atrophy, Simplified gyral ... OMIM:615760
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Intellectual Developmental Disorder, X-Linked 12
Abnormal cerebral white matter morphology, Cerebellar vermis hypoplasia, Abnormality of neuronal ... OMIM:300957
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Hypoplasia of the corpus callosum, Cerebellar dysplasia, Microcephaly, Cerebellar hypoplasia OMIM:613155
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Respiratory insufficiency, Re... ORPHA:254875
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
Liver Failure, Infantile, Transient
Hyperbilirubinemia OMIM:613070
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Joubert Syndrome 30
Superior cerebellar dysplasia, Cerebellar atrophy, Dandy-Walker malformation, Gray matter heterot... OMIM:617622
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Asbestos Intoxication
Restrictive ventilatory defect, Wheezing, Dyspnea, Late inspiratory crackles, Exertional dyspnea,... ORPHA:2302
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:616278
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hyperbilirubinemia, Hypermethioninemia OMIM:614300
Walker-Warburg Syndrome
Pachygyria, Hydrocephalus, Absent septum pellucidum, Cerebellar hypoplasia, Abnormality of neuron... ORPHA:899
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Polymicrogyria, Cerebellar atrophy, Microcephaly, Agenesis of corpus ... OMIM:614833
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellum, Microcephaly, Abnormality of neu... ORPHA:2518
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Respiratory failure, Central hypoventilation, Leukoencephalopathy OMIM:618233
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Lissencephaly Due To Lis1 Mutation
Cavum septum pellucidum, Posterior predominant thick cortex pachygyria, Pachygyria, Thick cerebra... ORPHA:95232
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Hypoplasia of the corpus callosum, Hypopituitarism, Retrocerebellar cyst... OMIM:603671
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Hydrocephalus, Periventricular heterotopia, Abn... OMIM:618476
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Cerebral calcification, Microcephaly OMIM:617397
Leber Congenital Amaurosis
Aplasia/Hypoplasia of the cerebellar vermis, Abnormality of neuronal migration ORPHA:65
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Gray matter heterotopia, Simplified gyral pattern, Communicating hydrocephalus, Lis... OMIM:615219
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Increased serum iron, Unconjugated hyperbilirubinem... ORPHA:766
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Death in infancy, Neonatal respi... OMIM:610921
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Pachygyria, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum, Su... OMIM:614643
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinusitis, Pneumonia, Respiratory insuff... OMIM:618695
Dysplastic Cortical Hyperostosis
Microcephaly, Abnormality of neuronal migration ORPHA:2204
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Cach Syndrome
T2 hypointense thalamus, Cerebral atrophy, Cerebellar atrophy, Dysgyria, Cerebellar vermis atroph... ORPHA:135
Vici Syndrome
Gray matter heterotopia, Death in infancy, Cerebellar hypoplasia, Cerebral cortical atrophy, Agen... ORPHA:1493
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Respiratory insufficiency, Polymicrogyria, Progressive microcephaly OMIM:300673
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Dyspnea, Respiratory distress, Bronchiectasis, Interstitial pneumonitis... OMIM:610913
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Neurocutaneous Melanocytosis
Aplasia/Hypoplasia of the cerebellum, Death in infancy, Abnormality of neuronal migration, Mening... ORPHA:2481
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hypoplasia of the corpus callosum, Polymicrogyria, Respiratory failure, Agyria, Cerebral calcific... OMIM:616538
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Familial Infantile Myoclonic Epilepsy
Periventricular nodular heterotopia, Abnormal hippocampus morphology, Cerebellar atrophy, Thick c... ORPHA:352582
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Leigh Syndrome
Respiratory failure, Focal substantia nigra T2 hyperintensity, Respiratory insufficiency, Abnorma... OMIM:256000
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Hypoplasia of the corpus callosum, Cerebral atrophy, Respiratory failure, Abnormal periventricula... OMIM:615838
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Cerebral cortical atrophy, Asthma, P... ORPHA:1164
Immunodeficiency 54
Adrenocorticotropic hormone excess, Microcephaly, Respiratory failure, Respiratory insufficiency OMIM:609981
Staphylococcal Necrotizing Pneumonia
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Acute infectious pne... ORPHA:36238
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Crome Syndrome
Microcephaly, Cerebellar dysplasia OMIM:218900
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Hypomelanosis Of Ito
Microcephaly, Cerebral atrophy, Gray matter heterotopia OMIM:300337
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pachygyria, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Abnormality of the basal... ORPHA:86822
Combined Oxidative Phosphorylation Deficiency 37
Secondary microcephaly, Respiratory failure, Respiratory insufficiency OMIM:618329
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Nasal flaring, Respiratory failure, Tachypnea, Hypoxemia ORPHA:70587
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Cerebral edema, Death in infancy, Leukoencephalopathy OMIM:617186
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Microcephaly, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormality of neuronal migration, Polym... ORPHA:157
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Respiratory insufficiency OMIM:273730
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Basal ganglia cysts, Respiratory distress, Intracerebral periventricular calcifications, A... OMIM:608836
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Aplasia/Hypoplasia of the corpus callosum, Death in infancy, Cerebral cortical atrophy, Respirato... ORPHA:1194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Pachygyria, Type II lissencephaly, Hydrocephalus, Cerebellar cyst, Partial absence of cerebellar ... OMIM:613150
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Cerebral Palsy, Spastic Quadriplegic, 3
Microcephaly, Gray matter heterotopia OMIM:617008
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia OMIM:214950
Thanatophoric Dysplasia, Type I
Neonatal death, Respiratory insufficiency, Gray matter heterotopia OMIM:187600
Joubert Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Abnormality of neuronal ... ORPHA:475
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Respiratory failure, Tachypnea, Hypoxemia ORPHA:178320
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Acute Interstitial Pneumonia
Dyspnea, Bronchiectasis, Pleural effusion, Nonproductive cough, Crackles, Decreased DLCO, Atelect... ORPHA:79126
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Respiratory failure, Reduced vital... ORPHA:98913
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia OMIM:269920
Pelizaeus-Merzbacher Disease, Connatal Form
Confluent hyperintensity of cerebral white matter on MRI, Macrogyria, Respiratory failure ORPHA:280210
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Ciliary Dyskinesia, Primary, 18
Abnormal ciliary motility, Ciliary dyskinesia, Immotile sperm, Recurrent sinusitis, Respiratory i... OMIM:614874
Alkuraya-Kucinskas Syndrome
Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Cerebellar hypoplasia, Cerebe... OMIM:617822
Larsen-Like Syndrome, Lethal Type
Neonatal death, Tracheomalacia, Respiratory insufficiency OMIM:245650
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Respiratory failure, Paroxysmal dyspnea, Stridor, Abnorma... ORPHA:444013
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Abnormali... ORPHA:2318
Neu-Laxova Syndrome
Spina bifida, Pachygyria, Absent septum pellucidum, Cerebellar hypoplasia, Abnormality of neurona... ORPHA:2671
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Nonproductive cough, Respiratory insufficiency, Tracheom... ORPHA:60032
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Abnormal blood gas level, Hypoxemia ORPHA:70578
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Cerebral atrophy, Caudate atrophy ORPHA:363400
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Avian Influenza
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Pneumonia, Productiv... ORPHA:454836
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Edinburgh Malformation Syndrome
Respiratory insufficiency, Abnormality of neuronal migration ORPHA:1895
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation OMIM:603689
Fibrodysplasia Ossificans Progressiva
Basal ganglia calcification, Respiratory failure, Respiratory insufficiency OMIM:135100
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Hydrocephalus, Cerebellar vermis hypoplasia, Intracerebral periventricular calcificat... ORPHA:228308
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated hepatic iron concentration, Conjugated hyp... OMIM:616860
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Myopathy, Centronuclear, X-Linked
Neonatal respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory fa... OMIM:310400
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Tachypnea, Ventilator dependence with inability to wean, Respiratory failure, Inspiratory stridor OMIM:604320
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Hypermanganesemia OMIM:613280
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Tetrasomy 18P
Microcephaly, Abnormality of neuronal migration ORPHA:3307
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Cerebellar h... ORPHA:500159
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Desmosterolosis
Pachygyria, Hydrocephalus, Absent septum pellucidum, Abnormality of neuronal migration, Polymicro... ORPHA:35107
Scedosporiosis
Decreased pulmonary function, Cough, Bronchial breath sound, Pneumonia, Pleural empyema, Respirat... ORPHA:449280
Hereditary Motor And Sensory Neuropathy, Type Iic
Intercostal muscle weakness, Obstructive sleep apnea, Stridor, Respiratory failure OMIM:606071
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Mercury Poisoning
Dyspnea, Respiratory distress, Interstitial pneumonitis, Abnormal cerebral white matter morpholog... ORPHA:330021
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2759
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Pachygyria, Respiratory insufficiency, Atelectasis, Intercostal muscle weakness,... ORPHA:258
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Productive cough, Atelectasis, Neonatal respiratory distress, Abnormal ... ORPHA:244
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Ap... ORPHA:70474
Lhermitte-Duclos Disease
Polymicrogyria, Hydrocephalus, Enlarged cerebellum ORPHA:65285
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis hypoplasia, Elon... ORPHA:370022
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration ORPHA:93274
Bile Acid Synthesis Defect, Congenital, 1
Hyperbilirubinemia, Hypocholesterolemia OMIM:607765
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormal... ORPHA:75857
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Muscular Dystrophy, Duchenne Type
Hypoventilation, Respiratory failure, Respiratory insufficiency OMIM:310200
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Pachygyria, Exencephaly, Abnormality of neuronal migration, Polymicrogyria, Macrogyria, Abnormal ... ORPHA:2211
Li-Ghorbani-Weisz-Hubshman Syndrome
Hypoplasia of the corpus callosum, Periventricular heterotopia OMIM:618974
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Pachygyria, Abnormal periventricular white matter morphology, Periventricular heterotopia, Hypopl... ORPHA:468631
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Multiple Acyl-Coa Dehydrogenase Deficiency
Restrictive ventilatory defect, Dyspnea, Cardiorespiratory arrest, Gray matter heterotopia, Respi... ORPHA:26791
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Osteopetrosis, Autosomal Recessive 5
Microcephaly, Cerebral atrophy, Respiratory failure, Stillbirth OMIM:259720
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Snakebite Envenomation
Respiratory failure, Epistaxis, Hypopituitarism, Respiratory paralysis ORPHA:449285
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia, Hypoplasia of the corpus callosum, Cerebral atrophy, Tracheomalacia, Neo... OMIM:618797
Galloway-Mowat Syndrome
Microcephaly, Pachygyria, Aqueductal stenosis, Abnormality of neuronal migration ORPHA:2065
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia OMIM:109270
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-glutamic acid in ... ORPHA:3008
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Wolcott-Rallison Syndrome
Hyperammonemia, Hyperbilirubinemia, Hyponatremia, Hypoalbuminemia ORPHA:1667
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Sandestig-Stefanova Syndrome
Hypoplasia of the corpus callosum, Respiratory failure, Primary microcephaly OMIM:618804
Peripartum Cardiomyopathy
Dyspnea, Exertional dyspnea, Orthopnea, Crackles, Respiratory failure, Asthma, Paroxysmal dyspnea... ORPHA:563
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia OMIM:266200
3C Syndrome
Aplasia/Hypoplasia of the cerebellum, Death in infancy, Abnormality of neuronal migration, Hydroc... ORPHA:7
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Cerebellar atrophy, Cereb... OMIM:618659
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Subcortical white matter calcifications, Diffuse cerebral atrophy, Respiratory failure ORPHA:3240
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Basal ganglia calcification, Respiratory failure OMIM:616505
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Microcephaly, Respiratory failure, Respiratory distress ORPHA:2707
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... ORPHA:3202
16P13.11 Microdeletion Syndrome
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum, Abnormality of neuronal migration ORPHA:261236
Thanatophoric Dysplasia
Respiratory insufficiency, Gray matter heterotopia ORPHA:2655
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Dysplas... ORPHA:314679
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Abnormality of n... ORPHA:192
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Gray matter heterotopia, Cerebellar vermis hyp... OMIM:304050
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency due to muscle weakness... ORPHA:70
Brain-Lung-Thyroid Syndrome
Cavum septum pellucidum, Respiratory distress, Elevated circulating thyroid-stimulating hormone c... ORPHA:209905
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Cryptosporidiosis
Wheezing, Respiratory distress, Cough, Respiratory failure, Hypoxemia ORPHA:1549
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cerebellar malformation, Pachygyria, Type II lissencephaly, Hydrocephalus, Hypoplasia of the corp... OMIM:236670
Orofaciodigital Syndrome I
Hypothalamic hamartoma, Porencephalic cyst, Hydrocephalus, Gray matter heterotopia, Abnormal cort... OMIM:311200
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Microcephaly, Cerebellar dysplasia, Decreased response to growth hormone stimuation test ORPHA:457240
Fumarase Deficiency
Hyperbilirubinemia OMIM:606812
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
3-Methylglutaconic Aciduria Type 7
Cerebral atrophy, Primary microcephaly, Abnormality of the basal ganglia, Respiratory failure, Pn... ORPHA:445038
Bilateral Perisylvian Polymicrogyria
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Ectopic posterior pituitary, Abnormality of n... ORPHA:98889
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Vici Syndrome
Gray matter heterotopia, Cerebellar vermis hypoplasia, Schizencephaly, Microcephaly, Agenesis of ... OMIM:242840
Alg11-Cdg
Cerebral white matter atrophy, Gray matter heterotopia, Abnormal cerebral white matter morphology... ORPHA:280071
Intellectual Developmental Disorder, Autosomal Dominant 64
Periventricular nodular heterotopia, Microcephaly, Cerebellar hypoplasia OMIM:619188
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Congenital Multicore Myopathy With External Ophthalmoplegia
Respiratory failure, Pneumonia, Abnormal respiratory system physiology ORPHA:98905
Genitourinary And/Or Brain Malformation Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Gray matter heterotopia, Holoprosencephaly... OMIM:618820
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Hypoplasia of the corpus callosum, Respiratory failure requiring assisted ventilation, Cerebral c... ORPHA:496641
9Q21.13 Microdeletion Syndrome
Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia ORPHA:531151
Abetalipoproteinemia
Hypotriglyceridemia, Hyperbilirubinemia, Hypocholesterolemia, Decreased LDL cholesterol concentra... ORPHA:14
Glycine Encephalopathy With Normal Serum Glycine
Hypoplasia of the corpus callosum, Respiratory failure, Microcephaly, Apnea OMIM:617301
Hardikar Syndrome
Hyperbilirubinemia OMIM:612726
Man1B1-Cdg
Cerebellar hypoplasia, Periventricular heterotopia ORPHA:397941
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Leigh Syndrome
Focal T2 hyperintense basal ganglia lesion, Hypoplasia of the corpus callosum, Diffuse spongiform... ORPHA:506
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Cerebellar dysplasia, Aprosencephaly OMIM:601374
Infantile Krabbe Disease
Hypointensity of cerebral white matter on MRI, Abnormal periventricular white matter morphology, ... ORPHA:206436
Niemann-Pick Disease, Type C2
Respiratory failure, Neurofibrillary tangles, Respiratory insufficiency OMIM:607625
47,Xyy Syndrome
Increased circulating gonadotropin level, Cerebellar dysplasia, Hydrocephalus, Dysgenesis of the ... ORPHA:8
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Respiratory insufficiency, Exertional dyspnea OMIM:614370
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Hypoplasia of the corpus callosum, Microcephaly, Enlarged cerebellum ORPHA:85165
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoplasia of the corpus callosum, Microcephaly, Respiratory failure, Hyperintensity of cerebral ... ORPHA:88618
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Riddle Syndrome
Chronic sinusitis, Restrictive ventilatory defect, Abnormal cerebral white matter morphology, Rec... ORPHA:420741
Graft Versus Host Disease
Hyperbilirubinemia ORPHA:39812
Bohring-Opitz Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus call... OMIM:605039
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia OMIM:300908
Joubert Syndrome With Hepatic Defect
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Cerebellar vermi... ORPHA:1454
Boutonneuse Fever
Respiratory failure ORPHA:83313
Orofaciodigital Syndrome Xvi
Apnea, Gray matter heterotopia OMIM:617563
Van Maldergem Syndrome 1
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Tracheomalacia, Simplifie... OMIM:601390
Miller-Dieker Lissencephaly Syndrome
Cavum septum pellucidum, Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, ... OMIM:247200
Geleophysic Dysplasia 3
Dyspnea, Sleep apnea, Respiratory failure, Pneumonia OMIM:617809
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency OMIM:609015
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Pleural effusion, Respiratory failure, Chylothorax ORPHA:3015
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:2754
Hydrolethalus Syndrome 1
Severe hydrocephalus, Stillbirth, Absent septum pellucidum, Gray matter heterotopia, Arrhinenceph... OMIM:236680
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level ORPHA:90673
Congenital Tricuspid Valve Dysplasia
Tachypnea, Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:555874
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Gray matter heterotopia OMIM:219730
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Combined Oxidative Phosphorylation Deficiency 3
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:610505
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Agenesis of corpus callosum, Interhypothalamic Adhesion OMIM:618929
Radio-Tartaglia Syndrome
Microcephaly, Agenesis of corpus callosum, Gray matter heterotopia OMIM:619312
Ritscher-Schinzel Syndrome 3
Periventricular nodular heterotopia, Cerebellar vermis hypoplasia, Death in infancy OMIM:619135
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory insufficiency, Respiratory failure, Leukoencephalopathy, Microcephaly, Cerebral edema OMIM:252010
Renal Dysplasia-Limb Defects Syndrome
Neonatal death, Respiratory failure, Respiratory distress, Pneumothorax OMIM:266910
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Holoprosencephaly
Panhypopituitarism, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callos... ORPHA:2162
Superficial Siderosis
Abnormal corpus callosum morphology, Cerebellar atrophy, Dysgyria, Abnormal cerebellar vermis mor... ORPHA:247245
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Hyperuricosuria OMIM:229600
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration ORPHA:186
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia OMIM:613471
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Microcephaly 27, Primary, Autosomal Dominant
Primary microcephaly, Simplified gyral pattern OMIM:619180
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Nijmegen Breakage Syndrome
Microcephaly, Respiratory failure, Recurrent pneumonia, Abnormality of neuronal migration ORPHA:647
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration, Agenesis of corpus callosum, Periventricular heterotopia OMIM:618733
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pachygyria, Aplasia/Hypoplasia of the corpus callosum, Type II lissencephaly, Cerebellar cyst, Ce... OMIM:253280
Caroli Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:480520
Thanatophoric Dysplasia Type 1
Respiratory insufficiency, Gray matter heterotopia ORPHA:1860
Lathosterolosis
Hyperbilirubinemia, Abnormal circulating cholesterol concentration OMIM:607330
Otopalatodigital Syndrome, Type Ii
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:304120
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Neonatal respiratory distress, Periventricular heterotopia, Absent septum pellucidum OMIM:618870
Van Maldergem Syndrome 2
Gray matter heterotopia, Hypoplasia of the corpus callosum, Tracheomalacia, Periventricular nodul... OMIM:615546
Pagod Syndrome
Spina bifida, Death in infancy, Abnormality of neuronal migration, Meningocele, Microcephaly ORPHA:991
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Periventricular nodul... OMIM:618918
Arima Syndrome
Gray matter heterotopia, Occipital meningocele, Dilated fourth ventricle, Aplasia/Hypoplasia of t... OMIM:243910
16Q24.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Colpocephaly, Periventricular heterotopia ORPHA:261250
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:2912
Glycogen Storage Disease Due To Acid Maltase Deficiency
Sleep apnea, Respiratory distress, Exertional dyspnea, Orthopnea, Respiratory insufficiency, Resp... ORPHA:365
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... ORPHA:90038
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Microcephaly, Abnormality of neuronal migration ORPHA:3186
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Hypokalemia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Pachygyria, Stillbirth, Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, A... OMIM:210710
Nocardiosis
Dyspnea, Respiratory distress, Pleural effusion, Emphysema, Nonproductive cough, Pneumonia, Produ... ORPHA:31204
Arterial Tortuosity Syndrome
Dyspnea, Respiratory failure, Cardiorespiratory arrest, Respiratory distress ORPHA:3342
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Polymicrogyria, Aplasia/Hypoplasia of the corpus callosum, Hypoplastic o... OMIM:214100
Biliary Malformation With Renal Tubular Insufficiency
Conjugated hyperbilirubinemia OMIM:210550
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia ORPHA:168577
Caroli Disease
Conjugated hyperbilirubinemia ORPHA:53035
Cranioectodermal Dysplasia 2
Hyperbilirubinemia OMIM:613610
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Hypoplasia of the corpus callosum, Holoprosencephaly, Cerebellar hyp... OMIM:615948
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure ORPHA:679
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Intercostal muscle weakness, Respi... ORPHA:2020
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia ORPHA:464321
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:305450
Short Rib-Polydactyly Syndrome
Abnormal cerebral morphology, Respiratory failure ORPHA:1505
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia OMIM:218700
Mismatch Repair Cancer Syndrome 1
Agenesis of corpus callosum, Gray matter heterotopia OMIM:276300
Isolated Biliary Atresia
Conjugated hyperbilirubinemia ORPHA:30391
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia ORPHA:163956
Lethal Acantholytic Erosive Disorder
Respiratory failure ORPHA:158687
Orofaciodigital Syndrome Type 14
Periventricular heterotopia, Hypoplasia of the corpus callosum, Dilated fourth ventricle, Dilated... ORPHA:434179
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Ear-Patella-Short Stature Syndrome
Dyspnea, Microcephaly, Respiratory failure, Respiratory distress ORPHA:2554
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypoplasia of the corpus callosum, Abnormality of neuronal migration, Cerebral cortical atrophy, ... ORPHA:464311
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Emphysema, Dysplast... ORPHA:500150