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Gene: Dhcr7 MGI:1298378

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Gene Summary

Name:
7-dehydrocholesterol reductase
Synonyms:
N/A

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
microphthalmia Dhcr7em1(IMPC)Mbp HOM E15.5 0.00
small kidney Dhcr7em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Dhcr7em1(IMPC)Mbp HOM   Early adult 0.00
abnormal heart morphology Dhcr7em1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Dhcr7em1(IMPC)Mbp HET Early adult 0.00
microphthalmia Dhcr7em1(IMPC)Mbp HET E15.5 0.00
abnormal placenta vasculature Dhcr7em1(IMPC)Mbp HET E15.5 0.00
enlarged heart Dhcr7em1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Dhcr7em1(IMPC)Mbp HET Early adult 0.00
abnormal blood vessel morphology Dhcr7em1(IMPC)Mbp HOM E15.5 0.00
enlarged spleen Dhcr7em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Dhcr7em1(IMPC)Mbp HET E15.5 0.00
edema Dhcr7em1(IMPC)Mbp HOM E15.5 0.00
embryonic growth retardation Dhcr7em1(IMPC)Mbp HOM E15.5 0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

60 Images

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X-ray

XRay Images Whole Body Lateral Orientation

20 Images

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Gross Morphology Embryo E14.5-E15.5

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17 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Human diseases caused by Dhcr7 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 Dhcr7 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Smith-Lemli-Opitz Syndrome
Precocious puberty, Short stature, Death in infancy, Abnormal lung lobation, Pulmonary hypoplasia... OMIM:270400
Smith-Lemli-Opitz Syndrome
Rhizomelia, Short stature, Abnormal lung lobation, Pulmonary hypoplasia, Growth delay, Intrauteri... ORPHA:818

The table below shows human diseases predicted to be associated to Dhcr7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Thick corpus callosum, Hydrocephalus, Syndactyly, Megalencephaly, Postaxial han... OMIM:615938
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Neonatal death, Pulmonary hypoplasia OMIM:615228
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive
Enlarged sylvian cistern OMIM:615752
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Small cerebral cortex, Ventriculomegaly, Abnormal cerebral morphology, Simplified gyral pattern, ... ORPHA:329228
Synpolydactyly 1
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... OMIM:186000
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Primary microcephaly, Cerebral hypoplasia, Talipes equinovarus, Cer... OMIM:618266
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly, Clinodactyly, Abnormal cerebral white matter morphology, Mild malformation of c... ORPHA:500166
Ethanolaminosis
Cardiomegaly OMIM:227150
Porencephaly
Ventriculomegaly ORPHA:2940
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hemimegalencephaly, Ventriculomegaly, Hydrocephalus, Postaxial hand polydactyly, Hypoplasia of th... OMIM:615937
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of the corpu... OMIM:604213
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Cerebral Palsy, Spastic Quadriplegic, 2
Ventriculomegaly OMIM:612900
Polydactyly, Preaxial Ii
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... OMIM:174500
Laryngotracheoesophageal Cleft
Cyanosis, Aspiration, Impaired oropharyngeal swallow response, Choking episodes, Dyspnea, Cough, ... ORPHA:2004
Syndactyly Type 2
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... ORPHA:93403
Bronchopulmonary Dysplasia
Central apnea, Hyperoxemia, Pulmonary sequestration, Tracheobronchomalacia, Abnormal respiratory ... ORPHA:70589
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Subcortical band heterotopia, Agen... OMIM:600348
Ventriculomegaly And Arthrogryposis
Hand clenching, Ventriculomegaly, Ulnar deviation of the wrist, Agenesis of corpus callosum, Tali... OMIM:619501
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Cavum septum pellucidum, Lateral ventricle dilatation, Dysgenesis of ... ORPHA:300573
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Martsolf Syndrome 2
Camptodactyly of finger, Lateral ventricle dilatation, Camptodactyly, Overlapping toe, Microcepha... OMIM:619420
Masa Syndrome
Camptodactyly of finger, Hand clenching, Ventriculomegaly, Clinodactyly of the 5th finger, Agenes... ORPHA:2466
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Reduced cerebral white matter volume, Ventriculomegaly, Simplified gyral pattern, Cortical dyspla... OMIM:615763
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Pulmonary hypoplasia, Neonatal respiratory distress, Neonatal de... OMIM:619003
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... ORPHA:3246
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Thick cerebral cortex, Cortical dysplasia, Lateral ventricle dilatation ORPHA:101071
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Surfactant Metabolism Dysfunction, Pulmonary, 3
Cyanosis, Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Par... OMIM:610921
Intellectual Developmental Disorder, X-Linked 103
Short palm, Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Abnormal periventricular white matter morphology, 2-3 toe syndactyly, V... OMIM:613443
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure, Aspiration pneumonia, Inability to walk, Elevated circulating creatine kinas... ORPHA:90117
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Tracheomalacia, Neonatal death, Pulmonary hypoplasia OMIM:245650
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Microcephaly 19, Primary, Autosomal Recessive
Simplified gyral pattern, Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly OMIM:617800
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Adducted ... ORPHA:3207
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Cyanosis, Intraalveolar phospholipid accumulation, Desquamative ... OMIM:265120
Primary Pulmonary Hypoplasia
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Pulmonary hypoplasia, Apnea, Re... ORPHA:2257
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Talipes equinovarus, Lateral ventricle dilatation, Short corpus callosum OMIM:619972
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Syndactyly, Type Iii
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger OMIM:186100
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Ventriculomegaly, Lissencephaly, Microcephaly, Pachygyria, Cerebral atrophy, Hypoplasia of the co... OMIM:618730
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Ventriculomegaly, Agenesis of corpus callosum, Primary microcephaly ORPHA:171703
Microlissencephaly
Cerebral cortical atrophy, Ventriculomegaly, Simplified gyral pattern, Neuronal loss in the cereb... ORPHA:1083
Lissencephaly 1
Ventriculomegaly, Agyria, Lissencephaly, Abnormal cerebral white matter morphology, Secondary mic... OMIM:607432
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Brain-Lung-Thyroid Syndrome
Choreoathetosis, Abnormal eating behavior, Vesicoureteral reflux, Abnormal pulmonary interstitial... ORPHA:209905
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Desquamative interstitial pneumonitis, Respiratory distress, Recurrent upper respirator... OMIM:263000
Perching Syndrome
Cyanosis, High palate, Respiratory distress, Depressed nasal bridge, Dysphagia OMIM:617055
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia, Postnatal growth retardation, Intrauterine growth ret... OMIM:616733
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Glycosylphosphatidylinositol Biosynthesis Defect 17
Primary microcephaly, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Dysplastic cor... OMIM:618010
Lissencephaly 4
Primary microcephaly, Simplified gyral pattern, Lissencephaly, Agenesis of corpus callosum, Colpo... OMIM:614019
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Hemosiderin-laden macrophages i... OMIM:616414
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Death in childhood, Pulmonary hypoplasia, Death in infancy OMIM:614096
Asbestos Intoxication
Cyanosis, Oxygen desaturation on exertion, Pleural thickening, Decreased DLCO, Diffuse reticular ... ORPHA:2302
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Choking episodes, Respiratory distress, Recurrent pneumonia, Abnormal ... ORPHA:60032
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl... ORPHA:1891
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid OMIM:206400
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Recurrent respiratory infe... OMIM:253300
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus, Abnormal corpus callosum morphology, Microcephaly, Cortical dysp... OMIM:618709
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Pyknoachondrogenesis
Stillbirth OMIM:265880
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus OMIM:234280
Ciliary Dyskinesia, Primary, 21
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... OMIM:615294
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... OMIM:615872
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Ventriculomegaly, Clinodactyly of the 5th finger, Dandy-Walker malformation, Unusual dermatoglyph... ORPHA:262767
Bowen-Conradi Syndrome
Camptodactyly of finger, Ventriculomegaly, Clinodactyly of the 5th finger, Microcephaly, Rocker b... ORPHA:1270
Leukoencephalopathy, Progressive, With Ovarian Failure
Leukoencephalopathy, Progressive leukoencephalopathy, Periventricular leukomalacia, Lateral ventr... OMIM:615889
Microcephaly, Seizures, And Developmental Delay
Ventriculomegaly, Simplified gyral pattern, Progressive microcephaly, Microcephaly, Hypoplasia of... OMIM:613402
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Urofacial Syndrome 2
Vesicoureteral reflux, Recurrent urinary tract infections, Bladder trabeculation, Urinary urgency... OMIM:615112
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia, Adrenal hypoplasia OMIM:613124
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Inability to walk, Reduced maximal inspiratory pressure, Abnormal resp... ORPHA:266
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Elevated circulating creatine kinase concentration, Loss of ambulation, Death in adolescence, Res... OMIM:300717
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the corpus callosum, Thick cerebral cortex, Ventriculomegaly, Lissencephaly OMIM:618677
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy... OMIM:267450
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Periventricular cysts, Cerebral cortical atrophy, Lateral ventricle dilatation, Simplified gyral ... OMIM:617668
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Leukoencephalopathy, Dilated third ventricle, Lateral ventricle dilatation, Simplified gyral patt... OMIM:619244
Polymicrogyria, Bilateral Temporooccipital
Ventriculomegaly OMIM:612691
Spastic Paraplegia 88, Autosomal Dominant
Thin corpus callosum, Ventriculomegaly OMIM:620106
Syndactyly, Type Iv
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... OMIM:186200
Spinocerebellar Ataxia Type 8
Gait ataxia, Urinary incontinence, Aspiration, Limb ataxia, Ataxia, Dysphagia, Unsteady gait, Bra... ORPHA:98760
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Chronic pulmonary obstruction, Emphysema OMIM:130700
Alg2-Cdg
Lateral ventricle dilatation, Hyperintensity of cerebral white matter on MRI, Abnormal basal gang... ORPHA:79326
Ventriculomegaly With Defects Of The Radius And Kidney
Absent thumb, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Absent radius, Bowed... OMIM:602200
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... ORPHA:3269
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Hand clenching, Cerebral cortical atrophy, Perisylvian polymicrogyria, Ventriculomegaly, Lateral ... OMIM:618291
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Opitz Gbbb Syndrome
Vesicoureteral reflux, High palate, Wide nasal bridge, Aspiration, Congenital posterior urethral ... OMIM:300000
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Ventriculomegaly, Simplified gyral pattern, Microcephaly, Cortical dysplas... OMIM:608716
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Enlarged sylvian cistern, Ventriculomegaly, Pachygyria ORPHA:1084
Cerebrooculofacioskeletal Syndrome 3
Edema, Microphthalmia, Intrauterine growth retardation OMIM:616570
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Inability to walk, Abnormal circulating enzyme concentration or a... ORPHA:2590
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Lateral ventricle dilatation OMIM:616816
Esophageal Atresia
Cyanosis, Pulmonary hypoplasia, Dysphagia, Abnormality of the urinary system, Cleft palate, Choan... ORPHA:1199
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Choreoathetosis, Oxygen desaturation on exertion, Crackles, Difficulty walking, Wheezing, Asthma,... OMIM:610978
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Chron... ORPHA:79127
Basel-Vanagaite-Smirin-Yosef Syndrome
2-3 toe syndactyly, Dilated third ventricle, Finger syndactyly, Lateral ventricle dilatation, Cli... ORPHA:464738
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Ventriculomegaly, Megalencephaly, Cerebral atrophy, Diffuse white matter abnormalities, Diffuse s... OMIM:613925
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent pneumonia, Cough, Recurrent low... OMIM:616726
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia gliosis, Ventriculomegaly, Lateral ventricle dilatation, Basal ganglia necrosis, Pe... ORPHA:79243
Olivopontocerebellar Atrophy-Deafness Syndrome
Cerebral cortical atrophy, Ventriculomegaly ORPHA:2732
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Maternal diabetes, Hypoxemia... ORPHA:70588
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... OMIM:615067
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Ventriculomegaly, Progressive microcephaly, Microcephaly, Hypoplasia of the corpus callosum, Bila... OMIM:616486
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Cyanosis, Desquamative interstitial pneumonitis, Bronchiectasis, Decre... OMIM:610913
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... ORPHA:93406
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... ORPHA:60033
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:616867
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Halperin-Birk Syndrome
High palate, Inability to walk, Aspiration, Pseudobulbar paralysis, Semilobar holoprosencephaly, ... OMIM:618651
Spinal Muscular Atrophy With Mental Retardation
Syndactyly, Microcephaly OMIM:271109
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Acute Interstitial Pneumonia
Cyanosis, Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural ho... ORPHA:79126
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation, Abnormality of the liver... ORPHA:132
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Adducted thumb, Microcephaly, Talip... OMIM:303350
Wahab Syndrome
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum... OMIM:615170
Bonnemann-Meinecke-Reich Syndrome
Cerebral calcification, Decreased response to growth hormone stimulation test, Ventriculomegaly, ... ORPHA:1261
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder, Hepatomegaly, Eosi... OMIM:607685
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Neuronal loss in basal ganglia, Cerebral cortical atrophy, Lateral ventric... OMIM:607596
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Leukoencephalopathy, Lateral ventricle dilatation, Abnormality of the hand, Basal ganglia calcifi... OMIM:221770
Infant Acute Respiratory Distress Syndrome
Cyanosis, Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory fai... ORPHA:70587
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Respiratory failure, High palate, Respiratory distress, Elevated circu... OMIM:614399
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Periventricular cysts, Tapered finger, Tapered toe, Lateral ventricle di... ORPHA:544488
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Lateral ventricle dilatation ORPHA:306669
Familial Nasal Acilia
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Recurrent upper respir... ORPHA:922
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... OMIM:613154
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Postaxial polydactyly, Ventriculomegaly, Lateral ventricle dilatation, O... ORPHA:397715
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Diffuse cerebral atrophy, Lateral ventricle dilatation, Microcephaly ORPHA:77299
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Death in infancy, Ele... OMIM:619386
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... ORPHA:264675
Atelosteogenesis, Type Ii
Respiratory insufficiency, Pulmonary hypoplasia, Stillbirth, Death in infancy OMIM:256050
Congenital Myopathy 14
Abnormal circulating creatine kinase concentration, High palate, Death in infancy, Apnea, Respira... OMIM:618414
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode, Death in infancy OMIM:610992
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... OMIM:619773
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Chronic sinusitis, Atelectasis OMIM:300455
Lissencephaly 3
Ventriculomegaly, Agyria, Lissencephaly, Microcephaly, Pachygyria, Hypoplasia of the corpus callo... OMIM:611603
Hydrolethalus Syndrome 2
Ventriculomegaly, Preaxial foot polydactyly, Anencephaly, Hydrocephalus, Postaxial foot polydacty... OMIM:614120
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly OMIM:263450
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Ventriculomegaly ORPHA:1568
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Hydrocep... ORPHA:380
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Moyamoya Disease
Ventriculomegaly ORPHA:2573
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Partial agenesis of the corpus callosum, Cerebral atrophy, Lateral ventr... OMIM:617296
Achondrogenesis Type 2
Cardiorespiratory arrest, Pulmonary hypoplasia, Short stature ORPHA:93296
16P13.2 Microdeletion Syndrome
Dilated third ventricle, Ventriculomegaly, Small hand, Hip dysplasia, Periventricular leukomalaci... ORPHA:500055
Epilepsy, Progressive Myoclonic, 9
Simplified gyral pattern, Short thumb, Ventriculomegaly, Agenesis of corpus callosum OMIM:616540
Brachydactyly Type A7
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... ORPHA:93397
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Lateral ventricle dilatation OMIM:618890
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Thin corpus callosum, Partial agenesis of the corpus callosum, Microcephaly, Lateral ventricle di... OMIM:619517
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Inability to walk, A... ORPHA:258
Brachydactyly, Type A2
2-3 toe syndactyly, Triangular shaped middle phalanx of the 2nd finger, Hallux valgus, Short midd... OMIM:112600
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Abnormal periventricular white matter morphology, Dilated third ventricle, Microcephaly OMIM:619725
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Agenesis of corpus callosum, Partial agenesis of the corpus callosum, Ventriculomegaly, Cerebral ... ORPHA:85179
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Schizencephaly
Schizencephaly, Cerebral cortical atrophy, Agenesis of corpus callosum OMIM:269160
Alg13-Cdg
Adducted thumb, Abnormal lateral ventricle morphology ORPHA:324422
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Epiphyseal stippling, Pachygyria, Colpocephaly OMIM:614870
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Megacystis, Recurrent respiratory infections, Nephrolithiasis... OMIM:619365
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524
Visceral Myopathy 2
Esophageal stricture, Volvulus, Megaduodenum, Necrotizing enterocolitis, Esophagitis, Intestinal ... OMIM:619350
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Primary microcephaly, Simplified gyral pattern, Lissencephaly, Hypo... ORPHA:284417
Cardiomyopathy, Familial Restrictive, 1
Ventriculomegaly OMIM:115210
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... OMIM:605289
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Agenesis of corpus callosum, Dandy-Walker malformation, Lateral ventricle dilatation, Microcephaly OMIM:618736
Congenital Myopathy 1B, Autosomal Recessive
Respiratory insufficiency, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Recurrent respiratory infections, Short stature, Central apnea ORPHA:320385
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Thin corpus callosum, Shortening of all distal phalanges of the fingers, Microcephaly, Lateral ve... OMIM:615716
Vocal Cord And Pharyngeal Distal Myopathy
Aspiration, Difficulty walking, Dysphagia, Unsteady gait, Respiratory insufficiency due to muscle... ORPHA:600
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Genu valgum, Clinodactyly, Spindle-shaped finger, Cerebral atrophy, Hypoplasia of the corpus call... ORPHA:166024
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Death in infancy OMIM:618235
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Talipes equinovarus OMIM:613162
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia, Stillbirth OMIM:617468
Surfactant Metabolism Dysfunction, Pulmonary, 4
Intraalveolar phospholipid accumulation, Reduced forced vital capacity, Restrictive ventilatory d... OMIM:300770
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Slc35A2-Cdg
Short tibia, Hip subluxation, Camptodactyly of finger, Elevated circulating thyroid-stimulating h... ORPHA:356961
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Death in infancy, Elevated circulating creatine kinase concentration, ... OMIM:613869
Tracheobronchopathia Osteochondroplastica
Bronchitis, Respiratory insufficiency, Recurrent respiratory infections, Productive cough, Exerti... ORPHA:3348
Congenital Tracheomalacia
Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hy... ORPHA:95430
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Inability to walk, Difficulty walking, Respiratory failure, Neonatal death, Dystonia... OMIM:611890
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Perisylvian polymicrogyria, Ventriculomegaly, Agyria, Dysgenesis of the... ORPHA:171680
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:291
Glutamine Deficiency, Congenital
Lateral ventricle dilatation, Camptodactyly, Subependymal cysts, Hypoplasia of the corpus callosu... OMIM:610015
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural effusion, Nonp... ORPHA:36238
Idiopathic Chronic Eosinophilic Pneumonia
Parenchymal consolidation, Abnormal pulmonary thoracic imaging finding, Asthma, Hypoxemia, Pleura... ORPHA:2902
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Oral aversion, Renal dysplasia, Aspiration, Hypospadias, Horseshoe kidney, Severe intrauterine gr... ORPHA:96182
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Holoprosencephaly 5
Central diabetes insipidus, Hydrocephalus, Microcephaly, Lateral ventricle dilatation OMIM:609637
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Upper limb phocomelia, Syndactyly, Stillbirth, Abnormal hip bone morphology ORPHA:294975
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... ORPHA:157801
Thanatophoric Dysplasia
Respiratory insufficiency, Disproportionate short-limb short stature, Pulmonary hypoplasia, Intra... ORPHA:2655
Simpson-Golabi-Behmel Syndrome, Type 2
Postaxial hand polydactyly, Broad thumb, Short finger, Ventriculomegaly OMIM:300209
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Central apnea, Respiratory failure, Death in infancy OMIM:611722
Bronchogenic Cyst
Abnormal pleura morphology, Pulmonary cyst, Abnormal pulmonary thoracic imaging finding, Abnormal... ORPHA:2357
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
2-3 toe syndactyly, Lateral ventricle dilatation, Sandal gap, Joint contracture of the 5th finger... OMIM:618914
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Hydrocephalus, Single transverse palmar crease, Microcephaly, Cereb... OMIM:614219
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Pontocerebellar Hypoplasia, Type 1C
Tongue fasciculations, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:616081
Crossed Polysyndactyly
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly ORPHA:2935
Severe X-Linked Intellectual Disability, Gustavson Type
Triphalangeal thumb, Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malform... ORPHA:3078
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Odontochondrodysplasia 1
Short stature, Death in infancy, Pulmonary hypoplasia, Respiratory distress, Mesomelic short stat... OMIM:184260
Ogden Syndrome
Wide nasal bridge, Minimal subcutaneous fat, Prominent nasolabial fold, Pulmonary hypoplasia, Glo... OMIM:300855
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Exertional dyspnea, Loss of ambulation, Pulmonary fibrosis, Dysphagia, Bronchiolitis, Atelectasis ORPHA:254361
Maternal Uniparental Disomy Of Chromosome 2
Hypothyroidism, Decreased response to growth hormone stimulation test, Pulmonary hypoplasia, Misc... ORPHA:96179
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Developmental And Epileptic Encephalopathy 100
Gait ataxia, High palate, Aspiration, Central sleep apnea, Choreoathetosis, Depressed nasal bridg... OMIM:619777
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Periventricular cysts, Ventriculomegaly, Abnormal corpus callosum morphology, Microcephaly, Cereb... ORPHA:255182
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Focal polymicrogyria, Primary microcephaly, Thin corpus callosum, Dysge... OMIM:615771
Macrocephaly, Acquired, With Impaired Intellectual Development
Thin corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Probst bundles OMIM:618286
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Bronchiectasis, Chronic pulmonary obstruction, Dyspnea, Cough, Panacinar emph... OMIM:613490
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Short stature, Aspiration, Death in infancy, Dysphagia, Neonatal respiratory distress OMIM:618922
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distress, Diffuse alveolar hem... ORPHA:178320
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Familial Scaphocephaly Syndrome, Mcgillivray Type
Toe syndactyly, Ventriculomegaly, Broad hallux phalanx ORPHA:168624
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Short stature, Polyuria, Polydipsia, Megacystis OMIM:125800
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Short stature, Polyuria, Polydipsia, Megacystis OMIM:304800
Dyssegmental Dysplasia, Silverman-Handmaker Type
Respiratory insufficiency, Pulmonary hypoplasia, Severe short stature, Disproportionate short-lim... OMIM:224410
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Camptodactyly of finger, Ventriculomegaly, Flexion contracture of toe OMIM:619323
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Elevated pulmonary artery pressure, Anuria, Microcolon, Pyelone... OMIM:619351
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:3346
Liebenberg Syndrome
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... OMIM:186550
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly OMIM:174200
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Adrenomyodystrophy
Abnormality of the urinary system, Abnormal intestine morphology, Hepatic steatosis, Megacystis ORPHA:977
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Intellectual Developmental Disorder, Autosomal Recessive 69
Ventriculomegaly OMIM:618383
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Genu valgum, Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Multifoca... ORPHA:488627
Craniosynostosis 6
Agenesis of corpus callosum, Dandy-Walker malformation, Lateral ventricle dilatation, Microcephaly OMIM:616602
Developmental And Epileptic Encephalopathy 97
Ventriculomegaly OMIM:619561
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia of toe, Syndacty... OMIM:600384
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Neonatal death, Bilateral lung agenesis OMIM:601612
Renal Tubular Dysgenesis
Respiratory insufficiency, Pulmonary hypoplasia OMIM:267430
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands, Cutaneous syndactyly OMIM:185900
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Clubbing, Single transverse palmar crease, Microcephaly, Hypoplasia... OMIM:618606
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Pulmonary hypoplasia, Short stature, Death in infancy OMIM:241800
Mosaic Trisomy 1
Camptodactyly of finger, Hand clenching, Arachnodactyly, Complete duplication of thumb phalanx, L... ORPHA:1692
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... ORPHA:1892
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Tremor, Ataxia, Dysphagia OMIM:618637
Oculopharyngodistal Myopathy 1
High palate, Aspiration, Reduced forced vital capacity, Respiratory distress, Ataxia, Hypercapnia... OMIM:164310
Pontine Tegmental Cap Dysplasia
Dysmetria, Aspiration, Ataxia, Dysphagia OMIM:614688
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Thin corpus callosum, Broad hallux, Single transverse palmar crease... OMIM:614105
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... OMIM:183600
Brachydactyly-Syndactyly Syndrome
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... OMIM:610713
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly, Trimethylaminuria OMIM:602079
Fetal Akinesia Deformation Sequence
Respiratory insufficiency, Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:994
Microcephaly 27, Primary, Autosomal Dominant
Hip subluxation, Tapered finger, Ventriculomegaly, Primary microcephaly, Simplified gyral pattern... OMIM:619180
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly, Microcephaly OMIM:241000
Lethal Osteosclerotic Bone Dysplasia
Gingival fibromatosis, Respiratory distress, Median cleft lip and palate, Dyspnea, Respiratory fa... ORPHA:1832
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... OMIM:174700
Congenital Hydrocephalus
Small cerebral cortex, Ventriculomegaly, Abnormal cortical gyration, Hydrocephalus, Lissencephaly... ORPHA:2185
Nanophthalmos
Microphthalmia ORPHA:35612
Syndactyly, Type V
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... OMIM:186300
Yoon-Bellen Neurodevelopmental Syndrome
Ventriculomegaly, Hip dysplasia, Periventricular leukomalacia, Microcephaly, Cerebral atrophy, Hy... OMIM:619701
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Clinodactyly of the 5th finger, Radioulnar synostosi... ORPHA:3268
Orofaciodigital Syndrome Xv
Ventriculomegaly, Broad hallux, Duplication of phalanx of hallux, Postaxial hand polydactyly, Age... OMIM:617127
Fanconi Anemia, Complementation Group J
Microphthalmia, Postnatal growth retardation, Intrauterine growth retardation OMIM:609054
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Pulmonary sequestration, Hypoxemia, Pulmonary hypoplasia ORPHA:2847
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Adnp Syndrome
Urinary incontinence, Short stature, Recurrent urinary tract infections, Aspiration, Advanced eru... ORPHA:404448
Bilateral Striopallidodentate Calcinosis
Cerebral calcification, Ventriculomegaly, Microcephaly ORPHA:1980
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Pulmonary hypoplasia, Stillbirth OMIM:236500
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Nanophthalmos 4
Microphthalmia OMIM:615972
Microcephaly-Cardiomyopathy Syndrome
Clinodactyly of the 5th finger, Ventriculomegaly, Sandal gap, Microcephaly ORPHA:2515
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Inability to walk, Central sleep apnea, Abnormal circulating enzyme concentr... ORPHA:70472
Pneumocystosis
Respiratory insufficiency, Respiratory failure, Exertional dyspnea, Interstitial pneumonitis, Hyp... ORPHA:723
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... ORPHA:254875
Apnea, Central Sleep
Cyanosis, Urinary incontinence, Irregular respiration, Abnormal pattern of respiration, Sleep apnea OMIM:207720
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Pulmonary hypoplasia, Respiratory distress OMIM:617895
Amyotrophic Lateral Sclerosis 21
Aspiration, Respiratory insufficiency due to muscle weakness, Dysphagia OMIM:606070
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology, Hyperextensibility of t... ORPHA:488635
Thanatophoric Dysplasia, Type I
Pulmonary hypoplasia, Disproportionate short-limb short stature, Lethal short-limbed short statur... OMIM:187600
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Death in childhood, Acrocyanosis OMIM:302000
Avian Influenza
Respiratory failure, Pneumothorax, Productive cough, Acute kidney injury, Hepatitis, Elevated hep... ORPHA:454836
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Pulmonary hypoplasia OMIM:601163
Hydrocephalus, Congenital, X-Linked
Contracture of thumb, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Adducte... OMIM:307000
Joubert Syndrome 3
Thin corpus callosum, Frontal polymicrogyria, Enlarged fossa interpeduncularis, Lateral ventricle... OMIM:608629
Myotubular Myopathy With Abnormal Genital Development
Penile hypospadias, High palate, Death in infancy, Respiratory distress, Hypospadias, Glandular h... OMIM:300219
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Genu valgum, Abnormality of thalamus morphology, Normal pressure hydrocephalus, Lateral ventricle... ORPHA:300570
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Tongue atrophy, Loss of ambulation, Dysphagia, Tongue fasciculations OMIM:613435
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia OMIM:602088
Hepatic Veno-Occlusive Disease
Jaundice, Elevated hepatic transaminase, Hepatomegaly, Respiratory failure, Renal insufficiency ORPHA:890
Niemann-Pick Disease, Type C2
Respiratory insufficiency, Low cholesterol esterification rate, Respiratory failure, Death in chi... OMIM:607625
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Ventriculomegaly, Joint contracture of the hand, Preaxial foot polydac... OMIM:175700
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
High palate, Aspiration, Apnea, Growth delay, Stridor, Erythema, Neonatal respiratory distress, I... OMIM:614653
Autosomal Recessive Spastic Paraplegia Type 66
Hypoplasia of the corpus callosum, Talipes equinovarus, Colpocephaly ORPHA:401815
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Asthma, Emphysema, Cough ORPHA:1164
Bilateral Generalized Polymicrogyria
Hypoplasia of the corpus callosum, Microcephaly, Lateral ventricle dilatation, Diffuse white matt... ORPHA:208447
Microcephaly 17, Primary, Autosomal Recessive
Ventriculomegaly, Primary microcephaly, Simplified gyral pattern, Microlissencephaly, Hypoplasia ... OMIM:617090
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Intraalveolar phosph... ORPHA:217563
Primary Ciliary Dyskinesia
Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Hydrocephalus... ORPHA:244
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Alternating Hemiplegia Of Childhood
Aspiration, Choreoathetosis, Respiratory distress, Ataxia, Flushing, Apnea, Impulsivity, Dysphagi... ORPHA:2131
Multiple Mitochondrial Dysfunctions Syndrome 5
Ventriculomegaly, Pachygyria, Microcephaly OMIM:617613
Peho-Like Syndrome
Tapered finger, Ventriculomegaly, Lissencephaly, Progressive microcephaly, Pachygyria, Hypoplasia... OMIM:617507
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Difficulty in tongue movements, Respiratory tract infection, Elevated ... ORPHA:308552
Split-Hand/Foot Malformation 6
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand OMIM:225300
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hypoplasia of the corpus callosum, Progressive microcephaly, Cerebral cortical atrophy, Ventricul... OMIM:617862
Combined Oxidative Phosphorylation Defect Type 39
Lateral ventricle dilatation, Hyperintensity of cerebral white matter on MRI, Abnormal cerebral w... ORPHA:565624
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Elevated circulating creatine kinase concentration, Loss of ambulation... ORPHA:370968
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... OMIM:612387
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... OMIM:620135
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Microcolon, Megacystis, Neonatal death, Fetal megacystis, Hydronephrosis OMIM:619362
Santos Syndrome
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... OMIM:613005
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Joint contracture of the hand, Anterior hypopituitarism, Camptodactyly, Overlapping fingers, Dysp... OMIM:601016
Neuralgic Amyotrophy
Respiratory insufficiency, Cleft palate, Acrocyanosis, Short stature ORPHA:2901
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Weaver Syndrome
Coxa valga, Ventriculomegaly, Lateral ventricle dilatation, Camptodactyly, Metatarsus adductus, O... OMIM:277590
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Agnathia-Otocephaly Complex
Tracheomalacia, Pulmonary hypoplasia, Respiratory distress OMIM:202650
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration, Agitation, Dysphagia ORPHA:2148
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities OMIM:600721
Nemaline Myopathy 8
Respiratory failure, Death in infancy, Dysphagia OMIM:615348
Malan Overgrowth Syndrome
Hypoplasia of the corpus callosum, Slender long bone, Ventriculomegaly, Lateral ventricle dilatation ORPHA:420179
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperactivity, Cirrhosis, Limb dystonia, Ataxia, Hepatic steatosis, Tremor, Hepatome... ORPHA:363400
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia, Short stature ORPHA:1486
Bilateral Perisylvian Polymicrogyria
Aspiration, Pseudobulbar paralysis, Apnea, Dysmetria, Protruding tongue, Dysphagia, Intrauterine ... ORPHA:98889
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Macdermot-Winter Syndrome
Camptodactyly of finger, Ventriculomegaly, Microcephaly OMIM:247990
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hepatic failure, Hydroureter, Microcolon, Intestinal malrotation, Megacystis, Portal hypertension... OMIM:619431
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Respiratory insufficiency, Elevated circulating alanine aminotransferase concentration, Respirato... OMIM:245400
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Catel-Manzke Syndrome
Metatarsus valgus, Camptodactyly of finger, Ventriculomegaly, Clinodactyly of the 5th finger, Rad... ORPHA:1388
Familial Visceral Myopathy
Vesicoureteral reflux, Hydroureter, Aganglionic megacolon, Anteverted nares, Megacystis, Cleft pa... ORPHA:2604
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Reduced cerebral white matter volume, Lateral ventricle dilatation, Thin corpus callosum, Clinoda... OMIM:620075
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Pneumothorax, Parathyroid adenoma, Emphysema, Medullary thyroid carcinoma ORPHA:122
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Lateral ventricle dilatation, Microcephaly, Hypoplasia of the corpus ca... OMIM:617751
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Reduced cerebral white matter volume, Ventriculomegaly, Cerebral hypoplasia, Microcephaly, Hypopl... OMIM:617977
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Tetrasomy 5P
Pulmonary arterial hypertension, Cyanosis, Pulmonary hypoplasia, Respiratory distress, Recurrent ... ORPHA:3309
Leukoencephalopathy, Cystic, Without Megalencephaly
Leukoencephalopathy, Ventriculomegaly, Cerebral calcification, Focal white matter lesions, Microc... OMIM:612951
Congenital Neuronal Ceroid Lipofuscinosis
Respiratory failure, Central sleep apnea, Abnormal circulating enzyme concentration or activity, ... ORPHA:168486
Serkal Syndrome
Growth delay, Abnormality of the adrenal glands, Pulmonary hypoplasia ORPHA:139466
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration OMIM:618328
Tonne-Kalscheuer Syndrome
Growth delay, Pulmonary hypoplasia, Short stature OMIM:300978
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Death in infancy, Aspiration OMIM:610768
Brachydactyly Type B
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... ORPHA:93383
Curry-Jones Syndrome
Preaxial hand polydactyly, Finger syndactyly, Ventriculomegaly, Toe syndactyly, Foot polydactyly,... ORPHA:1553
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Aicardi Syndrome
Dilated third ventricle, Cavum septum pellucidum, Lateral ventricle dilatation, Choroid plexus cy... OMIM:304050
3-Hydroxyisobutyric Aciduria
Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral ... ORPHA:939
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Rhizomelia, Respiratory distress, Pulmonary hypoplasia, Stillbirth, Neonatal short-limb short sta... OMIM:151210
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy, Dysphagia OMIM:225753
Cach Syndrome
Lateral ventricle dilatation, T2 hypointense thalamus, Dysgyria, Microcephaly, Cerebral atrophy ORPHA:135
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, 2-3 finger syndactyly, 2-4 finger syndactyly, Camptodactyly, 1-4 f... OMIM:225280
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Syndactyly, Megalencephaly, Cavum s... OMIM:602501
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Dilated third ventricle, Deviation of the hallux, Open operculum, Posta... ORPHA:434179
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Aspiration pneumonia, Neonatal respiratory distress OMIM:619057
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Chromosome 6Q24-Q25 Deletion Syndrome
Small hand, Lateral ventricle dilatation, Hydrocephalus, Sandal gap, Probst bundles, Prominent fi... OMIM:612863
Pyruvate Dehydrogenase E1-Alpha Deficiency
Long philtrum, Choreoathetosis, Episodic ataxia, Tremor, Apneic episodes precipitated by illness,... OMIM:312170
Laryngotracheal Angioma
Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing ORPHA:137935
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Splenomegaly, Hepatomegaly ORPHA:417
Diaphanospondylodysostosis
Respiratory insufficiency, Pulmonary hypoplasia, Respiratory distress, Tracheomalacia, Disproport... OMIM:608022
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Neuromuscular Oculoauditory Syndrome
Aspiration, Respiratory distress, Reduced renal corticomedullary differentiation, Multiple renal ... OMIM:618733
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Prox... OMIM:609432
Idiopathic Pulmonary Hemosiderosis
Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Reticular pattern on pulmonary HR... ORPHA:99931
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Short stature ORPHA:2528
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Lateral ventricle dilatation ORPHA:85290
Intellectual Developmental Disorder, Autosomal Dominant 56
Thin corpus callosum, Secondary microcephaly, Lateral ventricle dilatation OMIM:617854
Nephronophthisis 19
Hepatic fibrosis, Stage 5 chronic kidney disease, Malformation of the hepatic ductal plate, Bile ... OMIM:616217
Ciliary Dyskinesia, Primary, 5
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:608647
Brachydactyly Type B2
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... ORPHA:140908
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly OMIM:610140
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Giant Axonal Neuropathy 1, Autosomal Recessive
Morphological abnormality of the pyramidal tract, Talipes equinovarus, Lateral ventricle dilatation OMIM:256850
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Choreoathetosis, Ataxia, Central apnea, Lethargy ORPHA:71277
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Abnormal periventricular white matter morphology, Ventriculomegaly, Periventricular leukomalacia,... OMIM:616900
Rett Syndrome, Congenital Variant
Bulbous nose, Athetosis, Depressed nasal bridge, Aspiration OMIM:613454
1Q41Q42 Microdeletion Syndrome
Growth delay, Hypergonadotropic hypogonadism, Pulmonary hypoplasia, Short stature ORPHA:250999
Lissencephaly 6 With Microcephaly
Tapered finger, Ventriculomegaly, Simplified gyral pattern, Lissencephaly, Microlissencephaly, Si... OMIM:616212
Mitochondrial Complex I Deficiency, Nuclear Type 33
Respiratory insufficiency, Aspiration pneumonia, Bronchiectasis, Apnea, Intrauterine growth retar... OMIM:618253
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Ventriculomegaly, Microcephaly, Pachygyria, Agenesis of corpus c... ORPHA:2512
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Lymphadenopathy, Nephropathy, Hepatomegaly, Bence Jones Proteinuri... ORPHA:100024
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Elevated circulating creatine kinase concentration OMIM:604801
Cryptogenic Organizing Pneumonia
Cyanosis, Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect... ORPHA:1302
Immunodeficiency 104
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly OMIM:608971
Galactosemia Iii
Aminoaciduria, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly OMIM:230350
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Ataxia, Apnea, Respiratory failure, Neonatal death OMIM:610127
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Pulmonary hypoplasia, Respiratory distress OMIM:231680
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Respiratory insufficiency, Renal dysplasia, Elevated hepatic transaminase, Elevated circulating c... OMIM:608836
Waardenburg Syndrome Type 3
Tracheomalacia, Narrow nasal bridge, Acrocyanosis, Atelectasis ORPHA:896
Ravine Syndrome
Apnea ORPHA:99852
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:1046
Brain Small Vessel Disease 2
Schizencephaly, Porencephalic cyst, Ventriculomegaly, Polymicrogyria OMIM:614483
Arthrogryposis Multiplex Congenita 6
Akinesia, Death in infancy, Hypospadias, Respiratory failure, Neonatal death, Death in childhood OMIM:619334
17P13.3 Microduplication Syndrome
Hypoplasia of the corpus callosum, Congenital hip dislocation, Clinodactyly of the 5th finger, Ve... ORPHA:217385
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Hypoxemia, L... OMIM:610910
Intermediate Nemaline Myopathy
Long philtrum, Difficulty walking, Dysphagia, Respiratory failure, High, narrow palate ORPHA:171433
Visceral Myopathy 1
Vesicoureteral reflux, Urinary retention, Megaduodenum, Aganglionic megacolon, Microcolon, Megacy... OMIM:155310
Spastic Paraplegia 47, Autosomal Recessive
Abnormal periventricular white matter morphology, Ventriculomegaly, Acetabular dysplasia, Microce... OMIM:614066
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly OMIM:105200
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Respiratory failure, High palate, Exertional dyspnea, Glycosuria, Increased hepato... OMIM:220110
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Tongue fasciculations, Respiratory failure OMIM:600561
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, High palate, Exertional dyspnea, Fatigable weakness of respiratory muscles, Fatigable w... ORPHA:98913
Congenital Disorder Of Glycosylation, Type Iig
Broad femoral neck, Small hand, Lateral ventricle dilatation, Short long bone, Camptodactyly, Uln... OMIM:611209
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy ORPHA:500545
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia, Intrauterine growth retardation OMIM:312150
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Episodic respiratory distress, High palate, Tip-toe gait, Fatigable weakness, Choking e... ORPHA:98914
Congenital Myasthenic Syndrome
Cyanosis, Episodic respiratory distress, High palate, Tip-toe gait, Fatigable weakness, Choking e... ORPHA:590
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome