Gene Summary

Name:
7-dehydrocholesterol reductase
Synonyms:
N/A

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
abnormal placenta morphology Dhcr7em1(IMPC)Mbp HET E15.5 0.00
microphthalmia Dhcr7em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta vasculature 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
abnormal blood vessel morphology Dhcr7em1(IMPC)Mbp HOM E15.5 0.00
enlarged spleen Dhcr7em1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Dhcr7em1(IMPC)Mbp HET Early adult 0.00
microphthalmia Dhcr7em1(IMPC)Mbp HET E15.5 0.00
preweaning lethality, complete penetrance Dhcr7em1(IMPC)Mbp HOM   Early adult 0.00
enlarged heart Dhcr7em1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Dhcr7em1(IMPC)Mbp HET Early adult 0.00
small kidney Dhcr7em1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Dhcr7em1(IMPC)Mbp HET Early adult 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 Lateral Orientation

40 Images

X-ray

XRay Images Whole Body Dorso Ventral

80 Images

Gross Morphology Embryo E14.5-E15.5

Images

17 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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.

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
Syndactyly, Megalencephaly, Hydrocephalus, Postaxial hand polydactyly, Thick corpus callosum, Pol... OMIM:615938
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Cortical Dysplasia, Complex, With Other Brain Malformations 14B (Bilateral Perisylvian)
Enlarged sylvian cistern OMIM:615752
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 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Microcephaly, Simplified gyral pattern, Small cerebral cortex, Abnormal cerebral morphology, Abno... ORPHA:329228
Pontocerebellar Hypoplasia, Type 12
Rocker bottom foot, Cerebral atrophy, Lateral ventricle dilatation, Talipes equinovarus, Primary ... OMIM:618266
Ethanolaminosis
Cardiomegaly OMIM:227150
Porencephaly
Ventriculomegaly ORPHA:2940
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Postaxial hand polydactyly, Hemimegalencephaly, Hypoplasia of the corpus callosum,... OMIM:615937
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of... OMIM:604213
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... OMIM:600348
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Cerebral Palsy, Spastic Quadriplegic, 2
Ventriculomegaly OMIM:612900
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Cough, Dyspnea, Strido... ORPHA:2004
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Ventriculomegaly And Arthrogryposis
Ulnar deviation of the wrist, Talipes equinovarus, Hand clenching, Agenesis of corpus callosum, V... OMIM:619501
Masa Syndrome
Camptodactyly of finger, Hand clenching, Clinodactyly of the 5th finger, Agenesis of corpus callo... ORPHA:2466
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Reduced cerebral white matter volume, Cortical dysplasia, Simplified gyral pattern, Hypoplasia of... OMIM:615763
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit... OMIM:265120
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Polymicrogyria Due To Tubb2B Mutation
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... ORPHA:300573
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria, Short palm OMIM:300982
Martsolf Syndrome 2
Overlapping toe, Camptodactyly of finger, Microcephaly, Lateral ventricle dilatation, Hypoplasia ... OMIM:619420
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Pulmonary arterial hypertension, Pulmonary hypoplasia, Neonatal de... OMIM:619003
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation, Cortical dysplasia, Thick cerebral cortex, Cerebral hypoplasia ORPHA:101071
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Lipedema
Edema OMIM:614103
Larsen-Like Syndrome, Lethal Type
Neonatal death, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency OMIM:245650
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot... ORPHA:2257
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Single transverse palmar crease, 2-3 toe syndactyly, Abnormal cerebral ... OMIM:613443
Microcephaly 19, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Simplified gyral pattern, Ventriculomegaly, Microcephaly OMIM:617800
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... ORPHA:90117
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Short corpus callosum, Lateral ventricle dilatation, Talipes equinovarus OMIM:619972
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Cerebr... ORPHA:3207
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Microlissencephaly
Thick cerebral cortex, Cerebral dysmyelination, Microcephaly, Simplified gyral pattern, Neuronal ... ORPHA:1083
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Microcephaly, Cerebral atrophy, Lissencephaly, Hypoplasia of the corpus callosum, Cerebral white ... OMIM:618730
Brain-Lung-Thyroid Syndrome
Respiratory distress, Abnormal drinking behavior, Choreoathetosis, Compulsive behaviors, Vesicour... ORPHA:209905
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly, Primary microcephaly ORPHA:171703
Lissencephaly 1
Subcortical band heterotopia, Abnormal cerebral white matter morphology, Lissencephaly, Secondary... OMIM:607432
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Perching Syndrome
Respiratory distress, Cyanosis, Depressed nasal bridge, High palate, Dysphagia OMIM:617055
Lethal Congenital Contracture Syndrome 11
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:617194
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Dysplastic corpus callosum, Primary microcephaly, Clinodactyly of the 5th f... OMIM:618010
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Intrauterine growth retardation, Pulmonary hypoplasia, Respiratory ... OMIM:616733
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H... OMIM:616414
Lissencephaly 4
Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c... OMIM:614019
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood OMIM:614096
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Thick cerebral cortex, Lissencephaly, Hypoplasia of the corpus callosum, Ventriculomegaly OMIM:618677
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo... OMIM:619244
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory insufficiency, Respiratory failure, Tongue fascicul... OMIM:253300
Brachydactyly, Type A2
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... OMIM:112600
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly, Microcephaly OMIM:241000
Pyknoachondrogenesis
Stillbirth OMIM:265880
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Polymicrogyria, Bilateral Temporooccipital
Ventriculomegaly OMIM:612691
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cerebral white matter mor... OMIM:617668
Spastic Paraplegia 88, Autosomal Dominant
Thin corpus callosum, Ventriculomegaly OMIM:620106
Leukoencephalopathy, Progressive, With Ovarian Failure
Progressive leukoencephalopathy, Lateral ventricle dilatation, Periventricular leukomalacia, Leuk... OMIM:615889
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia, Adrenal hypoplasia OMIM:613124
Bowen-Conradi Syndrome
Camptodactyly of finger, Rocker bottom foot, Microcephaly, Clinodactyly of the 5th finger, Ventri... ORPHA:1270
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Microcephaly, Seizures, And Developmental Delay
Ventriculomegaly, Microcephaly, Simplified gyral pattern, Hypoplasia of the corpus callosum, Prog... OMIM:613402
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, Respiratory insufficiency due to muscle weakn... OMIM:300717
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Elevated circulating creatine kinase concentration, Inability to walk, Ab... ORPHA:266
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Cerebral cortical hemiatrophy, Hemiatrophy ORPHA:306669
Microcephaly 5, Primary, Autosomal Recessive
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Hypoplasia of ... OMIM:608716
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Spinocerebellar Ataxia Type 8
Ataxia, Urinary incontinence, Unsteady gait, Limb ataxia, Gait ataxia, Bradykinesia, Dysphagia, A... ORPHA:98760
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Microcephaly, Hydrocephalus, Cortical dysplasia, Ventriculomegaly, Abnormal corpus callosum morph... OMIM:618709
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Crackles, Tachypnea, Choreoathetosis, Cough, Oxygen desaturation on exertio... OMIM:610978
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:616816
Opitz Gbbb Syndrome
Abnormal nasopharynx morphology, Anteverted nares, Hypospadias, Rectourethral fistula, Wide nasal... OMIM:300000
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas... ORPHA:79326
Ventriculomegaly With Defects Of The Radius And Kidney
Bowed forearm bones, Absent thumb, Absent radius, Hydrocephalus, Lateral ventricle dilatation, Fo... OMIM:602200
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Congenital hip dislocation, Femur fracture, Single transverse palmar crease, Ulnar deviation of t... OMIM:618291
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Edema, Intrauterine growth retardation OMIM:616570
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Megalencephaly, Diffuse white matter abnormalities, Cerebral atrophy, Diffuse swelling of cerebra... OMIM:613925
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Enlarged sylvian cistern, Pachygyria, Agyria, Ventriculomegaly ORPHA:1084
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Esophageal Atresia
Respiratory distress, Bronchitis, Aspiration, Barrett esophagus, Episodic respiratory distress, C... ORPHA:1199
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea, Recurrent respiratory infections, Short stature ORPHA:320385
Pyruvate Dehydrogenase E1-Alpha Deficiency
Periventricular leukomalacia, Single transverse palmar crease, Microcephaly, Partial agenesis of ... ORPHA:79243
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Abnormal circulating enzyme concentration or activity, Tremor, Inability to walk, ... ORPHA:2590
Meconium Aspiration Syndrome
Respiratory distress, Maternal diabetes, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, ... ORPHA:70588
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Microcephaly, Deviation of t... ORPHA:464738
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Renal insufficiency, Elevated circulating aspartate aminotransferase concentrat... OMIM:619386
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Ventriculomegaly, Microcephaly, Bilateral talipes equinovarus, Hypoplasia of the corpus callosum,... OMIM:616486
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Olivopontocerebellar Atrophy-Deafness Syndrome
Cerebral cortical atrophy, Ventriculomegaly ORPHA:2732
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Microphthalmia, Syndromic 12
Neonatal death, Pulmonary hypoplasia OMIM:615524
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dandy-Walker malformation, Abnormal acetabulum morphology, Absent septum pellucidum, Postaxial po... ORPHA:397715
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Halperin-Birk Syndrome
Inability to walk, Aspiration, Pseudobulbar paralysis, High palate, Death in childhood, Intrauter... OMIM:618651
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Microcephaly, Lateral ventricle dilatation, Talipes equinovarus, ... OMIM:607596
Spinal Muscular Atrophy With Mental Retardation
Syndactyly, Microcephaly OMIM:271109
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC... ORPHA:79126
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Short stature, Pulmonary hypoplasia OMIM:618174
Congenital Disorder Of Glycosylation, Type Iiy
Microcephaly, Hip subluxation, Cerebral cortical atrophy, Agenesis of corpus callosum, Thin corpu... OMIM:620200
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Elevated circulating creatine kinase concentration, Respiratory insufficien... OMIM:614399
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Lateral ventricle dilatation, Microcephaly, Diffuse cerebral atrophy ORPHA:77299
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Masa Syndrome
Microcephaly, Hydrocephalus, Talipes equinovarus, Agenesis of corpus callosum, Ventriculomegaly, ... OMIM:303350
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Tapered toe, Tapered finger, Dysplastic corpus callosum, Hyperintensity of cerebral white matter ... ORPHA:544488
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Butyrylcholinesterase Deficiency
Abnormal circulating enzyme concentration or activity, Abnormality of the liver, Respiratory fail... ORPHA:132
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... ORPHA:70587
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy, Apnea OMIM:610992
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Bonnemann-Meinecke-Reich Syndrome
Cerebral calcification, Decreased response to growth hormone stimulation test, Ventriculomegaly, ... ORPHA:1261
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Abnormality of the hand, Basal ganglia calcification, Cerebral atrophy, Leukoenc... OMIM:221770
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Alg13-Cdg
Abnormal lateral ventricle morphology, Adducted thumb ORPHA:324422
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Abnormal periventricular white matter morphology, Dilated third ventricle, Microcephaly OMIM:619725
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Lateral ventricle dilatation, Dilated third ventricle, Cerebral atrophy, Partial agenesis of the ... OMIM:617296
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cerebral white matter atrophy, Periventricular leukomalacia, Microcephaly, Hydrocephalus, Small h... ORPHA:500055
Atelosteogenesis, Type Ii
Death in infancy, Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency OMIM:256050
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Lissencephaly 3
Agyria, Microcephaly, Lissencephaly, Hypoplasia of the corpus callosum, Pachygyria, Agenesis of c... OMIM:611603
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Hydrocephalus... ORPHA:380
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... OMIM:619773
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Partial agenesis of the corpus callosum, Thin corpus callosum, Micr... OMIM:619517
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Ventriculomegaly ORPHA:1568
Achondrogenesis Type 2
Short stature, Pulmonary hypoplasia, Cardiorespiratory arrest ORPHA:93296
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Moyamoya Disease
Ventriculomegaly ORPHA:2573
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly OMIM:618890
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Leukoencephalopathy With Vanishing White Matter 4
Corpus callosum atrophy, Cerebral cortical atrophy, Leukoencephalopathy, Ventriculomegaly OMIM:620314
Epilepsy, Progressive Myoclonic, 9
Short thumb, Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly OMIM:616540
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:250972
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Protruding tongue, Inability to walk, Atelectasis, Respiratory insufficiency, Dy... ORPHA:258
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Caudate atrophy, Reduced cerebral white matter volume, Microcephaly, Co... OMIM:615574
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Simplified gyral pattern, Lateral ventricle dilatation, Bilateral talipes equinovarus, Lissenceph... ORPHA:284417
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventricul... ORPHA:85179
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent respiratory infections, Recurrent urinary tract infections, Fetal pyelectasis, Megacyst... OMIM:619365
Glutamine Deficiency, Congenital
Micromelia, Subependymal cysts, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ... OMIM:610015
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation, Thin corpus callosum, Shortening of all distal phalanges of the fin... OMIM:615716
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory insufficiency OMIM:255320
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Epiphyseal stippling, Colpocephaly, Pachygyria OMIM:614870
Cardiomyopathy, Familial Restrictive, 1
Ventriculomegaly OMIM:115210
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Cerebral atrophy, Genu valgum, Cutaneous syndactyly, Hypoplasia ... ORPHA:166024
Macrocephaly, Acquired, With Impaired Intellectual Development
Probst bundles, Agenesis of corpus callosum, Thin corpus callosum, Ventriculomegaly OMIM:618286
Hydrolethalus Syndrome 2
Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Postaxial foot polydactyly, Preaxial foot... OMIM:614120
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly OMIM:618736
Vocal Cord And Pharyngeal Distal Myopathy
Respiratory insufficiency due to muscle weakness, Unsteady gait, Difficulty walking, Dysphagia, A... ORPHA:600
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Talipes equinovarus, Hypoplasia of the corpus callosum OMIM:613162
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Pulmonary hypoplasia OMIM:617468
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal... OMIM:300770
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsul... ORPHA:171680
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Nonproductive cough, Dyspnea, Wheezing, As... ORPHA:2902
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Death in infancy, Neonatal respiratory distress, Short stature, Dysphagia, Aspiration, Self-mutil... OMIM:618922
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:291
Slc35A2-Cdg
Cerebral white matter atrophy, Camptodactyly of finger, Abnormality of the hand, Coxa valga, Meta... ORPHA:356961
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis... OMIM:615771
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Inability to walk, Respiratory failure, High pa... OMIM:611890
Adams-Oliver Syndrome 2
Single transverse palmar crease, Microcephaly, Hydrocephalus, Cerebral atrophy, Lateral ventricle... OMIM:614219
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morphology ORPHA:294975
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Increased circulating procalcitonin concentration, Diabetes mellitus, Pneum... ORPHA:36238
Rett Syndrome, Congenital Variant
Depressed nasal bridge, Bulbous nose, Tongue thrusting, Athetosis, Bruxism, Aspiration, Abnormal ... OMIM:613454
Intellectual Developmental Disorder, Autosomal Recessive 69
Ventriculomegaly OMIM:618383
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Postnatal growth retardation, High, narrow palate, Aspiration, Horseshoe kidney, Ora... ORPHA:96182
Adnp Syndrome
Respiratory distress, Recurrent urinary tract infections, Short stature, Depressed nasal bridge, ... ORPHA:404448
Thanatophoric Dysplasia
Disproportionate short-limb short stature, Pulmonary hypoplasia, Respiratory insufficiency, Intra... ORPHA:2655
Simpson-Golabi-Behmel Syndrome, Type 2
Postaxial hand polydactyly, Broad thumb, Ventriculomegaly, Short finger OMIM:300209
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Anorexia, Crackles, Ground-glass opacific... ORPHA:1302
Ogden Syndrome
Apnea, High palate, Aspiration, Intrauterine growth retardation, Abnormal repetitive mannerisms, ... OMIM:300855
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, 2-3 toe syndactyly, Small thenar eminence, Lateral ventricle dilatation, Joint contra... OMIM:618914
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Flexion contracture of toe, Camptodactyly of finger, Ventriculomegaly OMIM:619323
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly ORPHA:2935
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Developmental And Epileptic Encephalopathy 97
Ventriculomegaly OMIM:619561
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Tongue fasciculations, Respiratory insufficiency, Death in childhood OMIM:616081
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Death in infancy, Short stature, Mesomeli... OMIM:184260
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Congenital hip dislocation, Rocker bottom foot, Microcephaly, Calcaneov... ORPHA:3078
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Intellectual Developmental Disorder, X-Linked 111
Reduced cerebral white matter volume, Corpus callosum atrophy, Hippocampal atrophy, Thin corpus c... OMIM:301107
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Maternal Uniparental Disomy Of Chromosome 2
Neonatal respiratory distress, Miscarriage, Decreased response to growth hormone stimulation test... ORPHA:96179
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... OMIM:613490
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Bronchiolitis, Pulmonary fibrosis, Dysphagia, Loss of ambulation, Exertional dyspnea ORPHA:254361
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma ORPHA:882
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:3346
Familial Scaphocephaly Syndrome, Mcgillivray Type
Broad hallux phalanx, Toe syndactyly, Ventriculomegaly ORPHA:168624
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... ORPHA:255182
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Respiratory insufficiency, Disproportionate short-limb short stature, Pulmo... OMIM:224410
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal... ORPHA:488627
Congenital Myopathy 14
Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Respiratory failure, A... OMIM:618414
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Short stature, Polyuria, Megacystis OMIM:125800
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Short stature, Polyuria, Megacystis OMIM:304800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Anuria, Ileal atresia, Peritonitis, Megacysti... OMIM:619351
Microcephaly 27, Primary, Autosomal Dominant
Tapered finger, Metatarsus adductus, Simplified gyral pattern, Short finger, Primary microcephaly... OMIM:619180
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Edema OMIM:189800
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Microcephaly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous f... OMIM:600384
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Holoprosencephaly 5
Hydrocephalus, Lateral ventricle dilatation, Microcephaly OMIM:609637
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of the corpus ca... OMIM:304100
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... OMIM:620317
Developmental And Epileptic Encephalopathy 100
Recurrent respiratory infections, Depressed nasal bridge, Protruding tongue, Broad nasal tip, Gai... OMIM:619777
Adrenomyodystrophy
Megacystis, Abnormality of the urinary system, Hepatic steatosis, Abnormal intestine morphology ORPHA:977
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Intrauterine growth retar... OMIM:618253
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency OMIM:601612
Pontocerebellar Hypoplasia, Type 13
Single transverse palmar crease, Microcephaly, Clubbing, Lateral ventricle dilatation, Hypoplasia... OMIM:618606
Pallister-Hall-Like Syndrome
Death in infancy, Anterior hypopituitarism, Short stature, Pulmonary hypoplasia OMIM:241800
Oculopharyngodistal Myopathy 1
Respiratory distress, Ataxia, Hypercapnia, Reduced forced vital capacity, Respiratory insufficien... OMIM:164310
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Respiratory insufficiency OMIM:267430
Craniosynostosis 6
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly OMIM:616602
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... OMIM:183600
Pontine Tegmental Cap Dysplasia
Aspiration, Ataxia, Dysmetria, Dysphagia OMIM:614688
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Ataxia, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Im... ORPHA:2131
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Respiratory failure, Ataxia, Dysphagia OMIM:618637
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Broad hallux, Single transverse palmar crease, Microcephaly, Lateral ventricle dilatation, Hypopl... OMIM:614105
Mosaic Trisomy 1
Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Single transverse palmar crease, Rocker bott... ORPHA:1692
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia OMIM:602079
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Microcephaly 17, Primary, Autosomal Recessive
Simplified gyral pattern, Microlissencephaly, Hypoplasia of the corpus callosum, Primary microcep... OMIM:617090
Severe Neonatal-Onset Encephalopathy With Microcephaly
Growth delay, Apnea, Respiratory insufficiency ORPHA:209370
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Yoon-Bellen Neurodevelopmental Syndrome
Microcephaly, Cerebral atrophy, Hip dysplasia, Hypoplasia of the corpus callosum, Periventricular... OMIM:619701
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Fetal Akinesia Deformation Sequence
Intrauterine growth retardation, Pulmonary hypoplasia, Respiratory insufficiency ORPHA:994
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypermobility of toe joints, Hyperextensibility of the finger joints, Abnormal lateral ventricle ... ORPHA:488635
Nanophthalmos
Microphthalmia ORPHA:35612
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... ORPHA:2185
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respiratory failure, M... ORPHA:1832
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Microcephaly, Abnormality of the elbow, Radioulnar synostosis, Clinodactyly of... ORPHA:3268
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Agenesis of corpus ca... OMIM:617127
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Combined Oxidative Phosphorylation Defect Type 39
Microcephaly, Corpus callosum atrophy, Deep white matter hypodensities, Cerebral atrophy, Abnorma... ORPHA:565624
Pericardial And Diaphragmatic Defect
Hypoxemia, Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary sequestration ORPHA:2847
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Nanophthalmos 4
Microphthalmia OMIM:615972
Microcephaly-Cardiomyopathy Syndrome
Clinodactyly of the 5th finger, Sandal gap, Ventriculomegaly, Microcephaly ORPHA:2515
Hydrocephalus, Congenital, X-Linked
Thumb contracture, Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tr... OMIM:307000
Amyotrophic Lateral Sclerosis 21
Respiratory insufficiency due to muscle weakness, Aspiration, Dysphagia OMIM:606070
Bilateral Striopallidodentate Calcinosis
Cerebral calcification, Ventriculomegaly, Microcephaly ORPHA:1980
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Acrocyanosis, Death in childhood OMIM:302000
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Nephronophthisis 2
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency OMIM:602088
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Intestinal ma... ORPHA:244
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Apnea, Erythema, Aspiration, Growth delay, Stridor, High palate, I... OMIM:614653
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, Dystonia, Ataxia, Death in infancy, Low cholesterol ... OMIM:607625
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Frontal polymicrogyria, Thin corp... OMIM:608629
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Talipes equinovarus, Hypoplasia of the corpus callosum ORPHA:401815
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Hydrocephalus,... OMIM:175700
Avian Influenza
Elevated hepatic transaminase, Respiratory distress, Miscarriage, Pneumonia, Elevated circulating... ORPHA:454836
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Respiratory failure ORPHA:890
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Disproportionate short-limb short stature, Pulmonary hypoplasia, N... OMIM:187600
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Metatarsus adductus, Partial agenesis of the corpus callosum, Small hand, Simplified gyral patter... ORPHA:300570
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Hypospadias, Atelectasis, Glandular hypospadias, High pal... OMIM:300219
Peho-Like Syndrome
Tapered finger, Progressive microcephaly, Lissencephaly, Hypoplasia of the corpus callosum, Pachy... OMIM:617507
Bilateral Perisylvian Polymicrogyria
Apnea, Choanal atresia, Protruding tongue, Aspiration, Dysmetria, Pseudobulbar paralysis, Dysphag... ORPHA:98889
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation, Microcephaly, Hypoplasia of the corpus callosum, Diffuse white matt... ORPHA:208447
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Weaver Syndrome
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... OMIM:277590
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Respiratory failure, Tongue fasciculations, Dysphagia, Loss of ambulation OMIM:613435
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Neuralgic Amyotrophy
Cleft palate, Acrocyanosis, Short stature, Respiratory insufficiency ORPHA:2901
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Pulmonary hypoplasia OMIM:601163
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Ple... OMIM:612387
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Single transverse palmar crease, Reduced cerebral white matter volume, Lateral ventricle dilatati... OMIM:620075
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... OMIM:620135
Multiple Mitochondrial Dysfunctions Syndrome 5
Pachygyria, Ventriculomegaly, Microcephaly OMIM:617613
Malan Overgrowth Syndrome
Slender long bone, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Ventriculomegaly ORPHA:420179
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration, Agitation, Dysphagia ORPHA:2148
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Megacystis, Hydronephrosis, Fetal megacystis, Neonatal death, Microcolon OMIM:619362
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Progressive microcephaly, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Ventricul... OMIM:617862
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Congenital Myopathy 10B, Mild Variant
Elevated circulating creatine kinase concentration, Reduced forced vital capacity, Recurrent pneu... OMIM:620249
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular ... OMIM:614922
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Respir... ORPHA:308552
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Congenital Muscular Dystrophy With Intellectual Disability
Elevated circulating creatine kinase concentration, Abnormality of the tongue muscle, Respiratory... ORPHA:370968
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Dysphagia OMIM:615348
Pontocerebellar Hypoplasia Type 4
Central apnea, Respiratory failure requiring assisted ventilation ORPHA:166063
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Ventriculomegaly, Reduced cerebral white matter volume, Microcephaly, Hypoplasia of the corpus ca... OMIM:617977
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Gait ataxia, Respiratory failu... ORPHA:363400
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities OMIM:600721
Leukoencephalopathy, Cystic, Without Megalencephaly
Cerebral calcification, Microcephaly, Leukoencephalopathy, Focal white matter lesions, Ventriculo... OMIM:612951
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Intestinal malrotation, Portal hypertension, Megacystis, Hydronephrosis, Hepatic fai... OMIM:619431
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Lethal Congenital Contracture Syndrome Type 1
Short stature, Pulmonary hypoplasia ORPHA:1486
48,Xxyy Syndrome
Recurrent respiratory infections, Hypergonadotropic hypogonadism, Apnea, Asthma, Type II diabetes... ORPHA:10
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Macdermot-Winter Syndrome
Camptodactyly of finger, Ventriculomegaly, Microcephaly OMIM:247990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Stillbirth, Pulmonary hypoplasia OMIM:236500
Familial Visceral Myopathy
Hydroureter, Anteverted nares, Aganglionic megacolon, Prominent nasal bridge, Megacystis, Cleft p... ORPHA:2604
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Catel-Manzke Syndrome
Camptodactyly of finger, Metatarsus valgus, Radial deviation of the 2nd finger, Abnormal epiphysi... ORPHA:1388
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus ca... OMIM:617751
Tonne-Kalscheuer Syndrome
Growth delay, Short stature, Pulmonary hypoplasia OMIM:300978
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Generalized dystonia, Ataxia, Inability to... ORPHA:70472
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Parathyroid adenoma, Emphysema, Medullary thyroid carcinoma ORPHA:122
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation, Talipes equinovarus OMIM:256850
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Elevated circulating aspartate aminotransferase ... OMIM:245400
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Cyanosis, Postnatal growth retardation, P... ORPHA:3309
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... ORPHA:1553
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Serkal Syndrome
Growth delay, Abnormality of the adrenal glands, Pulmonary hypoplasia ORPHA:139466
Congenital Disorder Of Glycosylation, Type Im
Aspiration, Death in infancy, Increased circulating free fatty acid level OMIM:610768
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Rhizomelia, Stillbirth, Pulmonary hypoplasia, Neonatal short-limb short sta... OMIM:151210
Cach Syndrome
Microcephaly, T2 hypointense thalamus, Cerebral atrophy, Lateral ventricle dilatation, Dysgyria ORPHA:135
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Megalencephaly, Hydrocephalus, Polydactyly, Cavum septum pellucidum, Polymicrogyria, ... OMIM:602501
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
3-Hydroxyisobutyric Aciduria
Cerebral calcification, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Cerebral cortica... ORPHA:939
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... OMIM:225280
Aicardi Syndrome
Proximal placement of thumb, Microcephaly, Pachygyria, Partial agenesis of the corpus callosum, C... OMIM:304050
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... ORPHA:140896
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Apnea OMIM:619048
Diaphanospondylodysostosis
Respiratory distress, Disproportionate short-trunk short stature, Respiratory insufficiency, Pulm... OMIM:608022
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Hypophosphatasia, Infantile
Recurrent respiratory infections, Death in infancy, Apnea, Stillbirth, Disproportionate short-lim... OMIM:241500
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Broad hallux, Deviation of the hallux, Microcephaly, Partial agenesis o... ORPHA:434179
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:417
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure, Dysphagia OMIM:225753
Congenital Myopathy 21 With Early Respiratory Failure
Elevated circulating creatine kinase concentration, Dyspnea, Lipoid pneumonia, Respiratory failur... OMIM:620326
Microphthalmia, Syndromic 9
Severe short stature, Short stature, Agenesis of pulmonary vessels, Alveolar capillary dysplasia,... OMIM:601186
Ravine Syndrome
Apnea ORPHA:99852
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation, Microcephaly ORPHA:85290
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Unsteady gait, Multiple renal cysts, Reduced renal corticomedullary differe... OMIM:618733
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
High palate, Compulsive behaviors, Vesicoureteral reflux, Aspiration, Abnormal repetitive manneri... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
High palate, Compulsive behaviors, Vesicoureteral reflux, Aspiration, Abnormal repetitive manneri... ORPHA:353277
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Short stature ORPHA:2528
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Broad toe, Dysplastic corpus callosum, Cerebral atrophy, Broad finger, Hypoplasia of the corpus c... OMIM:616900
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria ORPHA:79238
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Respiratory fa... OMIM:312170
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory... OMIM:620321
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Apnea, Respiratory insufficiency OMIM:617290
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis, Ataxia, Choreoathetosis, Lethargy ORPHA:71277
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Developmental And Epileptic Encephalopathy 61
Apnea OMIM:617933
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
2Q24 Microdeletion Syndrome
Growth delay, Central apnea ORPHA:1617
Lissencephaly 6 With Microcephaly
Single transverse palmar crease, Tapered finger, Microcephaly, Partial agenesis of the corpus cal... OMIM:616212
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Secondary microcephaly, Thin corpus callosum OMIM:617854
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Death in childhood OMIM:618225
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage,... ORPHA:99931
Mitochondrial Complex I Deficiency, Nuclear Type 13