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

40 Images

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X-ray

XRay Images Whole Body Dorso Ventral

80 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
Death in infancy, Short stature, Precocious puberty, Abnormal lung lobation, Growth delay, Pulmon... OMIM:270400
Smith-Lemli-Opitz Syndrome
Rhizomelia, Short stature, Abnormal lung lobation, Growth delay, Pulmonary hypoplasia, 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
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
Death in infancy, Apnea OMIM:618235
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Autosomal Recessive Primary Microcephaly
Microcephaly, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of corpus callosum, Ventricul... ORPHA:2512
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Sandal gap, Hydrocephalus, Small hand, Lateral ventricle dilatation, Prominent fi... OMIM:612863
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Congenital Disorder Of Glycosylation, Type Iig
Rhizomelia, Single transverse palmar crease, Microcephaly, Squared iliac bones, Small hand, Hypop... OMIM:611209
1Q41Q42 Microdeletion Syndrome
Growth delay, Hypergonadotropic hypogonadism, Short stature, Pulmonary hypoplasia ORPHA:250999
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:1046
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... ORPHA:100024
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy ORPHA:500545
Developmental And Epileptic Encephalopathy 38
Aspiration, Ataxia OMIM:617020
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Pulmonary hypoplasia, Respiratory distress OMIM:231680
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... OMIM:620156
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal circulating enzyme concentration or activity, Neonatal respiratory distress, Apnea, Elev... ORPHA:168486
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp... OMIM:610910
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis, Acrocyanosis, Narrow nasal bridge ORPHA:896
Autosomal Recessive Spastic Paraplegia Type 53
Cortical dysplasia, Upper limb hypertonia, Ventriculomegaly, Microcephaly ORPHA:319199
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Elevated circulating creatine kinase concentration OMIM:604801
Brain Small Vessel Disease 2
Schizencephaly, Porencephalic cyst, Polymicrogyria, Ventriculomegaly OMIM:614483
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Megacystis, Hydronephrosis, Urinary retenti... OMIM:155310
Intermediate Nemaline Myopathy
High, narrow palate, Dysphagia, Respiratory failure, Difficulty walking, Long philtrum ORPHA:171433
17P13.3 Microduplication Syndrome
Clinodactyly of the 5th finger, Congenital hip dislocation, Hypoplasia of the corpus callosum, Ve... ORPHA:217385
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Anal stenosis, Abnormal nasopharynx morphology, Ab... OMIM:604292
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure, Tongue fasciculations OMIM:600561
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Pulmonary hypoplasia, Neonatal death, Intrauterine growth retardation OMIM:608013
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Apnea, Abnormal pulmonary interstitial morphology OMIM:617050
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Apnea, Elevated circulating creatine kinase concentration, High palate, Mac... OMIM:608836
Arthrogryposis Multiplex Congenita 6
Death in infancy, Hypospadias, Akinesia, Respiratory failure, Death in childhood, Neonatal death OMIM:619334
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections ORPHA:1548
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... ORPHA:91359
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Pulmonary hypoplasia OMIM:263210
Distal Deletion 10Q
Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, Microcephaly, 2-3 ... ORPHA:96148
Chiari Malformation Type Ii
Cyanosis, Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia, ... OMIM:207950
Multiple Pterygium Syndrome, X-Linked
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:312150
Thanatophoric Dysplasia, Type Ii
Ventriculomegaly, Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphys... OMIM:187601
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Respiratory insuffici... OMIM:220110
Pseudo-Torch Syndrome 2
Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Polymicrogyria, Ventriculomegaly OMIM:617397
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly OMIM:618276
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:3035
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Deep palm... ORPHA:293725
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... ORPHA:185
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Brachydactyly OMIM:619995
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs, Short stature ORPHA:2204
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Intrauterine growth retardation, Pleural effusion, Pulmonary hypoplasia OMIM:616897
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Ground-glass opacification, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Rec... OMIM:620233
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Arachnodactyly, Ventriculomegaly, Primary microcephaly ORPHA:2172
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Nasal... ORPHA:137914
Pontocerebellar Hypoplasia, Type 6
Apnea, Death in childhood OMIM:611523
Mitochondrial Complex I Deficiency, Nuclear Type 5
Growth delay, Apnea, Respiratory insufficiency OMIM:618226
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Pulmonary hypoplasia OMIM:616866
Alg3-Cdg
Abnormality of the endocrine system, Pulmonary hypoplasia ORPHA:79321
Central Neurocytoma
Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus ORPHA:73256
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Apnea, Prominent nose, Facial erythema, High palate, Aspiration, Micropenis, Pelvic kidney, Neona... OMIM:619503
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Cog5-Cdg
Diffuse cerebral atrophy, Cerebral white matter atrophy, Camptodactyly of finger, Microcephaly, G... ORPHA:263487
Matthew-Wood Syndrome
Intrauterine growth retardation, Abnormal lung morphology, Pulmonary hypoplasia ORPHA:2470
Jeune Syndrome
Aplasia/Hypoplasia of the lungs, Short stature, Respiratory insufficiency ORPHA:474
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis OMIM:620010
Spinocerebellar Ataxia Type 1
Dystonia, Postural tremor, Dysmetria, Bradykinesia, Progressive cerebellar ataxia, Dysdiadochokin... ORPHA:98755
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Abnormal cerebral white matter morphology, Dilated third ventricle, Cerebral atrophy ORPHA:314404
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Miscarriage, Pulmonary hypoplasia, Respiratory insufficiency ORPHA:1865
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Cerebral atrophy, Ventriculomegaly, Microcephaly OMIM:617051
Achondroplasia
Respiratory distress, Death in infancy, Rhizomelia, Upper airway obstruction, Pulmonary hypoplasi... OMIM:100800
Attrv30M Amyloidosis
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly ORPHA:85447
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Ascites OMIM:269920
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Microcephaly, ... ORPHA:370010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Elevated circulating creatine kinase concentration, Restrictive ventilatory defect, Respiratory f... OMIM:606612
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Genitopatellar Syndrome
Apnea, Short stature, Pulmonary hypoplasia ORPHA:85201
Mitochondrial Complex I Deficiency, Nuclear Type 6
Apnea, Respiratory insufficiency OMIM:618228
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:253290
Presynaptic Congenital Myasthenic Syndromes
Waddling gait, Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Ataxia, Intermi... ORPHA:98914
Congenital Myasthenic Syndrome
Waddling gait, Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Ataxia, Intermi... ORPHA:590
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal renal morphology, Abnormal res... ORPHA:449280
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki... ORPHA:26791
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Death in infancy, Alpha-aminoadipic aciduria, ... OMIM:605711
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia ORPHA:858
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Myoclonus, Intractable, Neonatal
Apnea OMIM:617235
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia OMIM:615415
Developmental And Epileptic Encephalopathy 59
Ventriculomegaly OMIM:617904
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Atelectasis, Anosmia, Bronchiectasis, Im... OMIM:244400
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea, Short stature OMIM:615031
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia, Oral-pharyngeal dysphagia ORPHA:99772
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Macrocephaly, Benign Familial
Ventriculomegaly OMIM:153470
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Hyperekplexia 4
Respiratory failure, High palate OMIM:618011
Spastic Paraplegia 47, Autosomal Recessive
Microcephaly, Talipes equinovarus, Hypoplasia of the corpus callosum, Abnormal periventricular wh... OMIM:614066
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Combined Oxidative Phosphorylation Deficiency 57
Death in infancy, Apnea, Central hypoventilation, Nephrogenic diabetes insipidus, Neonatal death,... OMIM:620167
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas,... ORPHA:79644
Biemond Syndrome Type 2
Microphthalmia, Short stature, Delayed puberty ORPHA:141333
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Orthopnea, Cyanosis, Nonproductive cough, Dyspnea, Recurrent pn... ORPHA:980
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Hydrocephalus, Hypoplasia of the corpus callosum, Clinodactyly, Age... OMIM:618577
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary artery atresia, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:618316
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Lateral ventricle dilatation, Short long bone, Smal... OMIM:619479
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tented upper lip vermilion, Ataxia, Tremor, Dysmetria, Gait ataxia, Narrow palate, Respiratory fa... OMIM:616505
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Platyspondylic Dysplasia, Torrance Type
Disproportionate short-limb short stature, Pulmonary hypoplasia ORPHA:85166
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Tay-Sachs Disease
Aspiration OMIM:272800
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Lissencephaly 8
Type II lissencephaly, Microcephaly, Talipes equinovarus, Hypoplasia of the corpus callosum, Poly... OMIM:617255
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Death in infancy, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Megacystis, ... ORPHA:2241
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Microcephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Cl... OMIM:619091
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi... ORPHA:615
Gaucher Disease, Type Ii
Death in infancy, Apnea, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia OMIM:230900
Hypoadrenocorticism, Familial
Cyanosis, Apnea, Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Neuropathy, Congenital Hypomyelinating, 3
Gingival overgrowth, Respiratory insufficiency, Narrow palate, Respiratory failure, High palate, ... OMIM:618186
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Diffuse cerebral atrophy, Cerebral cortical atrophy, Ventriculomegaly OMIM:615362
5Q14.3 Microdeletion Syndrome
Frontal cortical atrophy, Toe syndactyly, Hypoplasia of the corpus callosum, Ventriculomegaly ORPHA:228384
Pulmonary Alveolar Microlithiasis
Cyanosis, Bronchitis, Respiratory tract infection, Nonproductive cough, Pleural thickening, Pneum... ORPHA:60025
Short-Rib Thoracic Dysplasia 12
Natal tooth, Intestinal malrotation, Hamartoma of tongue, Atelectasis, Hydrocephalus, Anencephaly... OMIM:269860
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Renal insufficiency, Pneumothorax, Renal cyst, Opisthotonus, Chore... ORPHA:445038
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... OMIM:603903
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Developmental And Epileptic Encephalopathy 99
Microcephaly, Perisylvian polymicrogyria, Thick corpus callosum, Frontotemporal cerebral atrophy,... OMIM:619606
Tibial Muscular Dystrophy
Respiratory failure, Steppage gait, Mildly elevated creatine kinase, Difficulty walking ORPHA:609
Congenital Muscular Dystrophy, Ullrich Type
Abnormal palate morphology, Torticollis, Elevated circulating creatine kinase concentration, Resp... ORPHA:75840
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:86822
Trisomy 5P
Ventriculomegaly, Abnormal metacarpal morphology ORPHA:1742
Benign Familial Neonatal-Infantile Seizures
Apnea ORPHA:140927
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies, Cerebral cortical atrophy OMIM:607485
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... ORPHA:99050
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Short stature OMIM:210050
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Frontal cortical atrophy, Ventriculomegaly OMIM:300699
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Partial agenesis of the corpus callosum, Delayed epi... OMIM:210710
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Ataxia, Impulsivity, Aggressive behavior, Protruding tongue, Inability to walk, ... OMIM:619580
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:616171
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly OMIM:617967
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Hypoplasia of the corpus callosum, Camptodactyly of finger, Ventriculomegaly, Microcephaly ORPHA:1495
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Death in infancy, Ataxia, Tachypnea, Respiratory insufficienc... OMIM:614299
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Nemaline Myopathy 2
Respiratory insufficiency due to muscle weakness, Apnea OMIM:256030
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Elevated circulating creatine kinase concentration, Difficulty walking, Dysp... OMIM:613954
Developmental And Epileptic Encephalopathy 70
Cerebral cortical atrophy, Ventriculomegaly, Microcephaly OMIM:618298
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Adrenal hypoplasia, Atelectasis, Recurrent pneumonia, Growth delay, Hypoplasia ... OMIM:613177
Mitochondrial Complex I Deficiency, Nuclear Type 10
Broad-based gait, Ataxia, Apnea, Central hypoventilation, Dysmetria, Respiratory failure, Dysphagia OMIM:618233
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Atelectasis, Wide nasal bridge, Clef... ORPHA:2314
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,... OMIM:616589
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency OMIM:618198
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Cerebral atrophy, Leukoencephalopathy, Lateral ventricle dilatation, Ce... ORPHA:572798
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... OMIM:252920
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Ventriculomegaly OMIM:617761
Microcephaly-Micromelia Syndrome
Neonatal death, Intrauterine growth retardation, Pulmonary hypoplasia OMIM:251230
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea OMIM:619797
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Ataxia, Tachypnea, Respiratory failure, Abnormal circulating creatine kinase concentration, Gait ... OMIM:615838
Tenorio Syndrome
Recurrent pneumonia, Apnea, Hypoinsulinemia OMIM:616260
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Pulmonary hypoplasia OMIM:314390
Gm2-Gangliosidosis, Ab Variant
Aspiration OMIM:272750
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormality of the philtrum, Aplasia/Hypo... ORPHA:2759
Developmental And Epileptic Encephalopathy 54
Ventriculomegaly OMIM:617391
Leigh Syndrome
Ataxia, Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Dystonia, Abnorm... OMIM:256000
Meckel Syndrome 14
Cyanosis, Pneumothorax, Pulmonary hypoplasia, Cardiorespiratory arrest OMIM:619879
Cat-Eye Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:195
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular leukomalacia, Periventricular cysts, Hypoplasia of the corpus callosum, Short cor... ORPHA:255138
Xk Aprosencephaly Syndrome
Microphthalmia, Polyhydramnios ORPHA:3469
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Toe syndactyly, Short hallux, Abnormal metacarpal morphology, Cerebral cortica... ORPHA:3224
Alg1-Cdg
Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Respiratory failure, Protein-... ORPHA:79327
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Dysplastic corpus callosum, Progressive microcephaly, Upper limb hype... ORPHA:2524
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Respiratory insufficiency OMIM:300673
Kagami-Ogata Syndrome
Pulmonary arterial hypertension, Pulmonary hypoplasia OMIM:608149
Hemimegalencephaly
Pachygyria, Hemimegalencephaly, Hyperintensity of cerebral white matter on MRI, Focal cortical dy... ORPHA:99802
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Growth delay, Cough, Pulmonary art... ORPHA:2414
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly OMIM:619955
Marden-Walker Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Pulmonary hypoplasia OMIM:248700
Immunodeficiency 54
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Respirat... OMIM:609981
Septooptic Dysplasia
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Absent sept... OMIM:182230
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Caudate atrophy, Frontal cortical atrophy, Temporal cortical atrophy, Ventriculomegaly ORPHA:137831
Cornelia De Lange Syndrome 2
Proximal placement of thumb, Limited elbow movement, Microcephaly, Small hand, Short foot, Clinod... OMIM:300590
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Cardiorespiratory arrest, Growth delay, Stridor, Bronchospasm, Abnormal pattern of respira... OMIM:608800
Laryngeal Abductor Paralysis
Stridor, Cyanosis, Dysphagia OMIM:150260
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:609015
Congenital Disorder Of Glycosylation, Type Iih
Microcephaly, Finger clinodactyly, Talipes equinovarus, Clinodactyly of the 3rd toe, Bilateral co... OMIM:611182
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Microcephaly, Cerebral atrophy, Primary microcephaly OMIM:619847
Joubert Syndrome 33
Apnea OMIM:617767
Microphthalmia, Isolated 5
Microphthalmia, Cystoid macular edema OMIM:611040
Histidinuria-Renal Tubular Defect Syndrome
Short middle phalanx of finger, Rounded middle phalanx of finger, Cerebral cortical atrophy, Vent... ORPHA:2158
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Decreased response to growth hormone stimul... ORPHA:1263
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele ORPHA:1528
Leukodystrophy, Hypomyelinating, 24
Cerebral atrophy, Thin corpus callosum, Ventriculomegaly, Microcephaly OMIM:619851
Orofaciodigital Syndrome Xvii
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... OMIM:617926
Tubulinopathy-Associated Dysgyria
Ventriculomegaly, Microcephaly, Abnormal thalamus morphology, Pachygyria, Abnormality of the inte... ORPHA:467166
Autosomal Recessive Spastic Paraplegia Type 11
Abnormal substantia nigra morphology, Hyperintensity of cerebral white matter on MRI, Lateral ven... ORPHA:2822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Type II lissencephaly, Pachygyria, Hydrocephalus, Simplified gyral pattern, Abnormal cerebral whi... OMIM:613153
Lymphatic Malformation 12
Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren... OMIM:620014
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... ORPHA:352447
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Abnormal cerebral white matter morphology, Lateral ventricle dilatati... ORPHA:457279
Congenital Myopathy 11
Neonatal respiratory distress, Apneic episodes in infancy OMIM:619967
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... ORPHA:93476
Microcephalic Primordial Dwarfism, Toriello Type
Microcephaly, Abnormal epiphysis morphology, Ventriculomegaly, Brachydactyly ORPHA:2643
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Mmep Syndrome
Microphthalmia ORPHA:3434
Hypophosphatasia
Emphysema, Short stature, Respiratory insufficiency ORPHA:436
Hogue-Janssen Syndrome 2
Broad hallux, Postaxial polydactyly, Microcephaly, Hydrocephalus, Hip dysplasia, Hypoplasia of th... OMIM:616362
Truncus Arteriosus
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... ORPHA:3384
6Q25 Microdeletion Syndrome
Camptodactyly of finger, Rocker bottom foot, Microcephaly, Clinodactyly of the 5th finger, Agenes... ORPHA:251056
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Ventriculomegaly OMIM:206570
Hsd10 Disease, Infantile Type
Restlessness, Cyanosis, Choreoathetosis, Dysphagia, Loss of ambulation, Abnormal concentration of... ORPHA:391428
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Tubulointerstitial nephritis, Cough, Acrocyanosis, Glomerulopathy, Respiratory insuffi... ORPHA:183
Cofs Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1466
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Death in infancy, Hypospadias, Abnormality of the kidney, Wide mouth, Respiratory f... ORPHA:1194
Noonan Syndrome 14
Scapular winging, Lateral ventricle dilatation, Deep palmar crease, Cubitus valgus, Clinodactyly,... OMIM:619745
Ataxia-Deafness-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ventriculomegaly ORPHA:1188
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Overlapping toe, Single transverse palmar crease, Reduced cerebral white matter volume, Tapered f... OMIM:617807
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea, Inappropriate antidiuretic hormone secretion, Hypot... ORPHA:79330
Den Hoed-De Boer-Voisin Syndrome
Sandal gap, Microcephaly, Small hand, 2-3 toe syndactyly, Short foot, Lateral ventricle dilatatio... OMIM:619229
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Agenesis of corpus callosum, Decreased response to growth hormone stimulation test, Ventriculomeg... OMIM:615286
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Tapered finger, Short 3rd toe, Dysplastic corpus callosum, Short thumb, Split hand, Microcephaly,... OMIM:618569
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature OMIM:610023
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Congenital Muscular Dystrophy Without Intellectual Disability
Abnormal cerebral white matter morphology, Pachygyria, Ventriculomegaly, Microcephaly ORPHA:370980
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly ORPHA:521390
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Ataxia, Elevated circulating creatine kinase concentration, Respiratory fai... OMIM:620166
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, High palate, Beta-aminoisobutyric aciduria, Respiratory insufficiency OMIM:615330
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Microphthalmia, Syndromic 13
Microphthalmia, Short stature OMIM:300915
Bilateral Frontoparietal Polymicrogyria
Cortical dysplasia, Cerebral dysmyelination, Ventriculomegaly, Microcephaly ORPHA:101070
Joubert Syndrome 21
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis OMIM:615636
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Orthop... ORPHA:365
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Absent thumb, Microcephaly, Hypoplasia of ... OMIM:617784
Gordon Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger ORPHA:376
Weiss-Kruszka Syndrome
Single transverse palmar crease, Proximal placement of thumb, Colpocephaly, Hypoplasia of the cor... OMIM:618619
Congenital Myopathy 17
Respiratory tract infection, Pulmonary hypoplasia, Respiratory insufficiency OMIM:618975
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Grow... OMIM:610600
Atypical Rett Syndrome
Growth delay, Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:3095
Late-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... ORPHA:556037
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:324416
Mitochondrial Complex I Deficiency, Nuclear Type 31
Ventriculomegaly OMIM:618251
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... ORPHA:2633
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Thick corpus callosum, Ventriculomegaly OMIM:618273
Teebi Hypertelorism Syndrome 1
Short stature, Pulmonary hypoplasia OMIM:145420
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Microcephaly, Simplified gyral pattern, Cerebral atrophy, Progressive microcephaly, Hypoplasia of... OMIM:615760
Lujo Hemorrhagic Fever
Respiratory distress, Renal insufficiency, Crackles, Nonproductive cough, Atelectasis, Oliguria, ... ORPHA:319213
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure, Hydroureter, Hydronephrosis OMIM:618240
Tarp Syndrome
Intrauterine growth retardation, Cyanosis, Apnea, Pulmonary hypoplasia ORPHA:2886
Early-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... ORPHA:556030
Joubert Syndrome 7
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:611560
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... ORPHA:70578
Acro-Renal-Mandibular Syndrome
Intrauterine growth retardation, Abnormal lung lobation, Pulmonary hypoplasia ORPHA:958
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Li-Ghorbani-Weisz-Hubshman Syndrome
Clinodactyly of the 5th finger, Overlapping toe, Hypoplasia of the corpus callosum, Ventriculomegaly OMIM:618974
Mercury Poisoning
Respiratory distress, Anorexia, Tremor, Dyspnea, Interstitial pneumonitis, Respiratory failure, D... ORPHA:330021
Gm1-Gangliosidosis, Type Iii
Hypoplastic acetabulae, Flared iliac wing, Ventriculomegaly, Diffuse cerebral atrophy OMIM:230650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Ventriculomegaly OMIM:613151
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Renal neoplasm, Anteverted nares, Repeated pneumothoraces, Depressed nasal ... ORPHA:536467
2,4-Dienoyl-Coa Reductase Deficiency
Microcephaly, Hydrocephalus, Cerebral atrophy, Colpocephaly, Hypoplasia of the corpus callosum, V... OMIM:616034
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Death in infancy, Apnea OMIM:614498
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Adduct... ORPHA:2182
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Inability... ORPHA:70
Tetraploidy
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Aplasia/Hypoplasia of the thymus ORPHA:3305
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... OMIM:300244
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Ground-glass opacification, Dyspnea, Hemo... ORPHA:199241
Autosomal Recessive Multiple Pterygium Syndrome
Neonatal respiratory distress, Short stature, Hypogonadism, Pulmonary hypoplasia, Intrauterine gr... ORPHA:2990
Pierpont Syndrome
Abnormal cortical gyration, Short toe, Deep palmar crease, Short finger, Primary microcephaly, Pr... ORPHA:487825
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Lethal Congenital Contracture Syndrome 10
Intrauterine growth retardation, Hypoplasia of the thymus, Pulmonary hypoplasia OMIM:617022
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Abnormal pleura morphology ORPHA:2570
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ventriculomegaly, Microcephaly OMIM:619150
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Lymphangioleiomyomatosis
Recurrent respiratory infections, Abnormal urinary color, Renal neoplasm, Dyspnea, Hydrocephalus,... ORPHA:538
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Frontal cortical atrophy, Ventriculomegaly ORPHA:206559
Meacham Syndrome
Death in infancy, Partial anomalous pulmonary venous return, Cardiac total anomalous pulmonary ve... OMIM:608978
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis OMIM:619708
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Microcephaly, Abnormal globus pallidus morphology, Hypoplasia of the corpus callosum, Agenesis of... OMIM:618603
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty... ORPHA:65759
Orofaciodigital Syndrome Type 5
Crossed fused renal ectopia, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Ac... ORPHA:2919
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Dystonia, Tremor, Splenomegaly, Jaundice, Unsteady gait, ... OMIM:615512
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Elevated circulating creatine kinase concentration, Respiratory failure, ... OMIM:603689
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Functional abnormality of the bladder ORPHA:71211
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cirrhosis OMIM:602390
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short h... ORPHA:93258
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Abnormal lung lobation, Anomalous pulmonary venous return, Respiratory insuffic... ORPHA:1120
49,Xyyyy Syndrome
Abnormality of the epiphyses of the elbow, Large carpal bones, Increased circulating gonadotropin... ORPHA:99330
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Fat malabsorption, ... ORPHA:731
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... OMIM:113000
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Syndactyly, Microcephaly, Lateral ventricle dilatation, Polydactyly, Hy... OMIM:619869
X-Linked Intellectual Disability, Cantagrel Type
Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly ORPHA:85277
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... OMIM:263520
Pontocerebellar Hypoplasia, Type 16
Apnea OMIM:619527
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Recurrent respiratory infections, Neonatal respiratory distress, Respiratory failu... ORPHA:79345
Craniosynostosis, Herrmann-Opitz Type
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Short stature ORPHA:2145
Gabriele-De Vries Syndrome
Hallux valgus, Sandal gap, Long fingers, Cortical dysplasia, Lateral ventricle dilatation, Finger... OMIM:617557
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Developmental And Epileptic Encephalopathy 9
Ventriculomegaly OMIM:300088
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Neurogenic bladder, Ataxia, Elevated circulat... ORPHA:496641
Chromosome 1Q41-Q42 Deletion Syndrome
Short stature, Pulmonary hypoplasia OMIM:612530
Stuve-Wiedemann Syndrome 1
Death in infancy, Apnea, Short stature, Pulmonary arterial medial hypertrophy, Respiratory insuff... OMIM:601559
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Ataxia, Tongue fasciculations, Congenital laryngeal stridor ORPHA:2254
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Rahman Syndrome
Thin corpus callosum, Talipes equinovarus, Ventriculomegaly, Camptodactyly OMIM:617537
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Death in infancy, Short stature, Respiratory insufficiency, Pul... OMIM:208500
Hypomelanosis Of Ito
Syndactyly, Microcephaly, Cerebral atrophy, Hand polydactyly, Radial deviation of finger, Clinoda... OMIM:300337
Restrictive Dermopathy 2
Respiratory distress, Cyanosis, Rectal prolapse, Intrauterine growth retardation, Convex nasal ridge OMIM:619793
Caudal Regression Syndrome
Pulmonary hypoplasia, Maternal diabetes ORPHA:3027
Linear Verrucous Nevus Syndrome
Short metacarpal, Toe syndactyly, Aplasia/Hypoplasia of the corpus callosum, Dandy-Walker malform... ORPHA:2611
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea OMIM:614883
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Acute... ORPHA:542323
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Prader-Willi Syndrome Due To Translocation
Overlapping toe, Decreased response to growth hormone stimulation test, Anterior pituitary hypopl... ORPHA:177907
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Cortical dysplasia, Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly ORPHA:457260
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Achondrogenesis
Aplasia/Hypoplasia of the lungs, Severe short stature ORPHA:932
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Bainbridge-Ropers Syndrome
Ulnar deviation of the hand, Arachnodactyly, Microcephaly, Contracture of the proximal interphala... OMIM:615485
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy, Hypothyroidism OMIM:301058
4Q21 Microdeletion Syndrome
Toe syndactyly, Micromelia, Small hand, Short foot, Short palm, Agenesis of corpus callosum, Vent... ORPHA:238750
Hsd10 Disease
Frontotemporal cerebral atrophy, Focal white matter lesions, Ventriculomegaly, Microcephaly ORPHA:391417
Propionic Acidemia
Tachypnea, Short stature, Apnea OMIM:606054
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Megalencephaly, Microceph... OMIM:600325
6P22 Microdeletion Syndrome
Clinodactyly, Finger syndactyly, Hydrocephalus ORPHA:251046
Sclerosteosis
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand ORPHA:3152
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs, Disproportionate short stature, Severe short stature ORPHA:93298
Atelosteogenesis Type I
Neonatal short-trunk short stature, Rhizomelia, Pulmonary hypoplasia ORPHA:1190
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Polymicrogyria, Ventriculomegaly OMIM:614254
Galloway-Mowat Syndrome 5
Periventricular leukomalacia, Pachygyria, Ventriculomegaly, Primary microcephaly OMIM:617731
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea, Recurrent respiratory infections, Diabetes mellitus, Short stature, Decreased resp... ORPHA:98754
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short stature, Pulmonary hypoplasia OMIM:614091
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly OMIM:600649
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Sandal gap, Cortical dysplasia, Small hand, Simplified gyral pattern, Short foot, Abnormal cerebr... OMIM:300354
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Thanatophoric Dysplasia Type 2
Aplasia/Hypoplasia of the lungs, Short stature, Respiratory insufficiency ORPHA:93274
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria ORPHA:664
Developmental And Epileptic Encephalopathy 65
Cerebral atrophy, Ventriculomegaly, Microcephaly OMIM:618008
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Dysplastic corpus callosum, Short 5th finger, Focal white matter lesions, ... ORPHA:557003
Periventricular Nodular Heterotopia 1
Syndactyly, Hypoplasia of the corpus callosum, Short finger, Clinodactyly, Thin corpus callosum OMIM:300049
Kohlschutter-Tonz Syndrome
Cerebral atrophy, Ventriculomegaly, Microcephaly OMIM:226750
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Muscular Dystrophy, Duchenne Type
Waddling gait, Hypoventilation, Elevated circulating creatine kinase concentration, Respiratory i... OMIM:310200
Distal Triplication 15Q
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:314588
Microhydranencephaly
Microcephaly, Talipes equinovarus, Hydranencephaly, Pachygyria, Agenesis of corpus callosum, Vent... OMIM:605013
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia OMIM:613885
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Mehmo Syndrome
Hypoplasia of the corpus callosum, Decreased response to growth hormone stimulation test, Ventric... OMIM:300148
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Sinusitis, Short stature, Apnea, Cough ORPHA:579
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Rhizomelia, Pulmonary hypoplasia, Respiratory insufficiency OMIM:616300
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Camptodactyly of finger, Hydrocephalus, Aplasia/Hypoplasia of the corpus callos... ORPHA:272
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly, Megalencephaly, Pachygyria, Hydrocephalus, Thick corpus callosum, Hypoplas... OMIM:603387
Summitt Syndrome
Syndactyly OMIM:272350
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly, Microcephaly, Hypoplasia of the corpus callosum, Pachygyria, Ventriculomegaly ORPHA:66629
Vacterl Association With Hydrocephalus
Renal hypoplasia, Respiratory insufficiency, Respiratory failure, Stillbirth, Anal atresia OMIM:276950
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Pseudo-Torch Syndrome 3
Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy... OMIM:618886
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea, Recurrent respiratory infections, Diabetes mellitus, Short stature, Decreased resp... ORPHA:98793
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis ORPHA:172
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Coxa valga, Microcephaly, Hydrocephalus, Colpocephaly, Hammertoe, Hip dysplasia, Acetabular dyspl... OMIM:619833
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
22Q11.2 Deletion Syndrome
Abnormal lung lobation, Vesicoureteral reflux, Short stature, Hypospadias, Spina bifida, Atelecta... ORPHA:567
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)
Frontal polymicrogyria, Perisylvian polymicrogyria, Cerebral dysmyelination, Ventriculomegaly OMIM:606854
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Oxoglutarate Dehydrogenase Deficiency
Ventriculomegaly OMIM:203740
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs ORPHA:1027
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Short stature, Apnea OMIM:314580
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hallux valgus, Broad hallux, Tapered finger, Long fingers, Short toe, 2-3 toe syndactyly, Cerebra... OMIM:618659
Hereditary Methemoglobinemia
Athetosis, Cyanosis, Exertional dyspnea ORPHA:621
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea, Recurrent respiratory infections, Diabetes mellitus, Short stature, Decreased resp... ORPHA:177904
Oculocerebrorenal Syndrome Of Lowe
Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behaviors, Abnormal repetitive ma... ORPHA:534
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosis, Hepatocellular carcinoma, As... OMIM:235200
Nasu-Hakola Disease
Cerebral calcification, Hydrocephalus, Abnormal epiphysis morphology, Cerebral cortical atrophy, ... ORPHA:2770
Crane-Heise Syndrome
Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Aplasia/Hypoplasia of... ORPHA:1512
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea, Recurrent respiratory infections, Diabetes mellitus, Short stature, Decreased resp... ORPHA:177901
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Hypoplastic is... OMIM:617866
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... ORPHA:555874
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ulnar deviation of the hand, Proximal placement of thumb, Clinodactyly of the 5th toe, Partial ag... OMIM:620113
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Short stature, Pulmonary hypoplasia OMIM:615503
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Radio-Renal Syndrome
Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Dys... ORPHA:3015
Femoral-Facial Syndrome
Short femur, Coxa vara, Abnormal fibula morphology, Aplasia/Hypoplasia of the corpus callosum, Ab... ORPHA:1988
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopat... OMIM:212140
Farber Disease
Respiratory distress, Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent up... ORPHA:333
Snakebite Envenomation
Epistaxis, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory failure, Respiratory para... ORPHA:449285
Czeizel-Losonci Syndrome
Pulmonary hypoplasia ORPHA:2437
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, High, narrow palate, Wide mouth, Abnormal upper lip morphology, Re... ORPHA:2707
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Avascular necrosis of the capital femoral epiphysis, Ventriculomegaly OMIM:611555
Cryofibrinogenemia, Familial Primary
Hematuria, Acrocyanosis, Transient nephrotic syndrome OMIM:123540
Peroxisome Biogenesis Disorder 1A (Zellweger)
Neonatal respiratory distress, Pulmonary hypoplasia, Adrenal hypoplasia, Death in childhood OMIM:214100
Mosaic Variegated Aneuploidy Syndrome
Apnea, Short stature, Abnormal lung lobation, Growth delay, Intrauterine growth retardation, Hypo... ORPHA:1052
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs, Severe short stature ORPHA:2635
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
Neurodevelopmental Disorder With Involuntary Movements
Cerebral atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly OMIM:617493
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased serum testosterone concentration, Decreased circulating cortisol level, Precocious pube... ORPHA:90793
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Pleural effusion, Pulmonary edema OMIM:261740
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Aicardi-Goutieres Syndrome 9
Cerebral calcification, Microcephaly, Basal ganglia calcification, Diffuse leukoencephalopathy, C... OMIM:619487
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Tented upper lip vermilion, Pneumonia, Abnormal respiratory sys... ORPHA:98905
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing... ORPHA:3210
Aicardi-Goutieres Syndrome 4
Cerebral calcification, Hydrocephalus, Cerebral atrophy, Progressive microcephaly, Ventriculomegaly OMIM:610333
Intellectual Developmental Disorder, Autosomal Recessive 46
Ventriculomegaly OMIM:616116
Spastic Paraplegia 50, Autosomal Recessive
Microcephaly, Talipes equinovarus, Hypoplasia of the corpus callosum, Ventriculomegaly, Adducted ... OMIM:612936
Chromosome 3Q13.31 Deletion Syndrome
Proximal placement of thumb, Agenesis of corpus callosum, Ventriculomegaly OMIM:615433
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Mohr Syndrome
Syndactyly, Preaxial hand polydactyly, Hydrocephalus, Postaxial hand polydactyly, Flared metaphys... OMIM:252100
Hartsfield Syndrome
Encephalocele, Microphthalmia, Intrauterine growth retardation ORPHA:2117
Narp Syndrome
Abnormal basal ganglia MRI signal intensity, Corticospinal tract atrophy, Cerebral cortical atrop... ORPHA:644
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Short stature, Central hypoventilation, Anteverted nares, Aggressive b... ORPHA:293987
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Mosaic Trisomy 16
Intrauterine growth retardation, Abnormal lung morphology, Pulmonary hypoplasia, Maternal diabetes ORPHA:1708
Hyperglycinemia, Lactic Acidosis, And Seizures
Growth delay, Apnea, Respiratory insufficiency OMIM:614462
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Pancreatiti... ORPHA:79312
Intellectual Developmental Disorder, Autosomal Recessive 41
Prominent fingertip pads, Clinodactyly of the 5th finger, Ventriculomegaly OMIM:615637
Curry-Jones Syndrome
Duplication of thumb phalanx, Megalencephaly, Preaxial hand polydactyly, 2-3 finger syndactyly, H... OMIM:601707
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:48431
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Malformation of the hepatic ducta... OMIM:208540
Cornelia De Lange Syndrome 5
Toe syndactyly, Proximal placement of thumb, Microcephaly, Small hand, Short foot, Clinodactyly o... OMIM:300882
Double Outlet Right Ventricle
Hypoparathyroidism, Cyanosis, Short stature, Tachypnea, Pulmonary artery atresia, Aplasia/Hypopla... ORPHA:3426
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs, Severe short stature ORPHA:93299
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Tapered finger, Microcephaly, Lateral ventricle dilatation, Hypoplasi... OMIM:618367
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Finger syndactyly, Toe syndactyly, Hydrocephalus, Hand polydactyly, Foot polydactyly, Polymicrogy... ORPHA:60040
Congenital Heart Block
Intrauterine growth retardation, Pleural effusion, Cyanosis, Crackles ORPHA:60041
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... ORPHA:747
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Apnea OMIM:300055
Achondrogenesis, Type Ia
Stillbirth, Disproportionate short-trunk short stature, Pulmonary hypoplasia OMIM:200600
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly OMIM:252650
Meckel Syndrome, Type 6
Bilobed right lung, Pulmonary hypoplasia OMIM:612284
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ... ORPHA:2251
Dravet Syndrome
Impulsivity, Bradykinesia, Progressive gait ataxia, Obsessive-compulsive trait, Cyanotic episode ORPHA:33069
Lethal Congenital Contracture Syndrome 9
Intrauterine growth retardation, Pulmonary hypoplasia, Cardiorespiratory arrest OMIM:616503
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Charlie M Syndrome
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly ORPHA:1406
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis OMIM:619868
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Monosomy 5P
Finger syndactyly, Small hand, Microcephaly ORPHA:281
Temtamy Syndrome
Hip dislocation, Thick corpus callosum, Short 2nd toe, Talipes equinovarus, Agenesis of corpus ca... OMIM:218340
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Respiratory failure, Death in infancy, Opisthotonus OMIM:610678
Pontocerebellar Hypoplasia, Type 9
Secondary microcephaly, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Cerebral... OMIM:615809
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Hyperintensity of cerebral whi... ORPHA:500180
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hypoplasia of the thymus, Intrauterine growth retardation, Apnea, Death in childhood OMIM:214110
Baraitser-Winter Syndrome 2
Secondary microcephaly, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly OMIM:614583
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Juvenile Huntington Disease
Abnormal cerebral white matter morphology, Neuronal loss in basal ganglia, Ventriculomegaly ORPHA:248111
Riddle Syndrome
Ataxia, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interst... ORPHA:420741
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Polymicrogyria, Microcephaly OMIM:618731
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... OMIM:616828
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st... OMIM:615067
Joubert Syndrome 22
Microphthalmia, Intrauterine growth retardation OMIM:615665
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... ORPHA:1319
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Absent septum pellucidum, Absent thumb, Mi... OMIM:609053
Christianson Syndrome
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Ventriculomeg... ORPHA:85278
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea OMIM:617143
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tapered finger, Long fingers, Diffuse white matter abnormalities, 2-3 toe syndactyly, Agenesis of... OMIM:218000
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Pulmonary hypoplasia OMIM:263200
Cold Agglutinin Disease
Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Hydrocephalus, Agen... OMIM:617542
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Coxa valga, Hydrocephalus, Hip dislocation, Agenesis of corpus callosum, Ventriculomegaly OMIM:109120
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Short stature, Adrenal hypoplasia, Mild intrauterine growth retardation, Stillbirth, Pulmonary hy... OMIM:308050
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... ORPHA:957
Niemann-Pick Disease Type C
Tremor, Abnormal lung morphology, Abnormality of the liver, Progressive gait ataxia, Aspiration p... ORPHA:646
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... OMIM:612651
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Single transverse palmar crease, Micromelia, Monkey wrench femoral neck, Absent... OMIM:618870
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Death in childhood, Respiratory failure, High palate, Chy... OMIM:620278
Even-Plus Syndrome
Dysplastic corpus callosum, Epiphyseal dysplasia, Agenesis of corpus callosum, Dysplasia of the f... OMIM:616854
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... OMIM:615219
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation ORPHA:268943
Cerebrooculofacioskeletal Syndrome 1
Diffuse cerebral atrophy, Rocker bottom foot, Coxa valga, Microcephaly, Basal ganglia calcificati... OMIM:214150
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Urinary incontinence, Tachypnea, Respiratory failure, Inspiratory stridor, Ventilator dependence ... OMIM:604320
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Atelosteogenesis Type Ii
Rhizomelic arm shortening, Tracheobronchomalacia, Rhizomelia, Pulmonary hypoplasia ORPHA:56304
Alkuraya-Kucinskas Syndrome
Overlapping toe, Hydrocephalus, Cutaneous syndactyly, Aplasia/Hypoplasia of the corpus callosum, ... OMIM:617822
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Developmental And Epileptic Encephalopathy 101
Apnea OMIM:619814
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea OMIM:612949
Chromosome 13Q33-Q34 Deletion Syndrome
Short stature, Pulmonary hypoplasia OMIM:619148
Auriculocondylar Syndrome 1
Apnea OMIM:602483
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Secondary microcephaly, Ventriculomegaly OMIM:613730
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Noonan Syndrome 12
Proximal placement of thumb, Decreased response to growth hormone stimulation test, Ventriculomegaly OMIM:618624
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Toe syndactyly, Arachnodactyly, Overlapping toe, Tapered... ORPHA:505237
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea ORPHA:137754
Craniofrontonasal Dysplasia
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... ORPHA:1520
Rhombencephalosynapsis
Finger syndactyly, Septo-optic dysplasia, Hydrocephalus, Polydactyly, Fusion of the left and righ... ORPHA:59315
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Secondary microcephaly, Prima... ORPHA:500144
Joubert Syndrome
Abnormality of the hypothalamus-pituitary axis, Apnea, Episodic tachypnea, Abnormal pattern of re... ORPHA:475
Neuronal Intranuclear Inclusion Disease
Leukoencephalopathy, Ventriculomegaly OMIM:603472
Diaphragmatic Hernia 4, With Cardiovascular Defects
Neonatal respiratory distress, Aortopulmonary window, Pulmonary artery hypoplasia, Pulmonary hypo... OMIM:620025
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Congenital Disorder Of Deglycosylation 2
Ulnar deviation of the hand, Sandal gap, Partial agenesis of the corpus callosum, Thin corpus cal... OMIM:619775
Hyperekplexia 3
Respiratory arrest, Apnea OMIM:614618
49,Xxxyy Syndrome
Increased circulating gonadotropin level, Finger clinodactyly, Abnormal cerebral white matter mor... ORPHA:261534
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Developmental And Epileptic Encephalopathy 31B
Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Agenesis of corpus ca... OMIM:620352
Pfeiffer Syndrome
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... OMIM:101600
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Acrocephalopolydactylous Dysplasia
Pulmonary hypoplasia, Extrapulmonary sequestrum OMIM:200995
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Femur fracture, Lateral ventricle dilatation OMIM:612301
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Cerebrofacioarticular Syndrome
Syndactyly, Microcephaly, Dysplastic corpus callosum, Talipes equinovarus, Hypoplasia of the corp... ORPHA:314679
Pitt-Hopkins Syndrome
Overhanging nasal tip, Ataxia, Aganglionic megacolon, Anteverted nares, Aggressive behavior, Post... ORPHA:2896
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Syndactyly, Preaxial polydactyly, Choroid plexus cyst, Patella... OMIM:603671
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Thick cerebral cortex, Congenital hip dislocation, Dysplastic corpus ca... ORPHA:357058
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Abnormal cerebral white matter morphology, Ventriculomegaly, Cerebral atrophy OMIM:617268
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Perry Syndrome
Hypoventilation, Central hypoventilation, Akinesia, Respiratory insufficiency, Bradykinesia, Inap... OMIM:168605
Myotonia Fluctuans
Stridor, Apnea ORPHA:99734
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Polyhydramnios ORPHA:2547
Clcn4-Related X-Linked Intellectual Disability Syndrome
Microcephaly, Abnormal cerebral white matter morphology, Hypoplasia of the corpus callosum, Periv... ORPHA:485350
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Proximal placement of thumb, Microcephaly, Perisylvian polymicrogyria, 2-3 toe syndactyly, Hypopl... OMIM:619121
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Short stature OMIM:251270
Familial Multiple Lipomatosis
Bowing of the long bones, Cerebral calcification, Hyperlipidemia, Hypoplasia of the corpus callos... ORPHA:199276
Raine Syndrome
Neonatal death, Death in infancy, Short stature, Pulmonary hypoplasia OMIM:259775
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Xq12-Q13.3 Duplication Syndrome
Abnormal basal ganglia MRI signal intensity, Microcephaly, 2-3 toe syndactyly, Cutaneous finger s... ORPHA:314389
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gi... ORPHA:1788
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormal thumb morphology, Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb ORPHA:1825
Coach Syndrome 2
Apneic episodes in infancy OMIM:619111
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Ascites OMIM:253250
Zygomycosis
Renal insufficiency, Sinusitis, Gastritis, Epistaxis, Atelectasis, Pneumothorax, Enterocolitis, P... ORPHA:73263
Pelvis-Shoulder Dysplasia
Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Aplasia/Hypoplasia... ORPHA:2839
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Disproportionate short sta... OMIM:616482
Helsmoortel-Van Der Aa Syndrome
Sandal gap, Decreased response to growth hormone stimulation test, Broad hallux, Tapered finger, ... OMIM:615873
Smith-Magenis Syndrome
Ventriculomegaly, Hypertriglyceridemia, Broad palm, Short palm, Hypercholesterolemia, Abnormal fo... OMIM:182290
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pneumonia, Episodic tachypnea, Increased circulating free fatty acid level,... ORPHA:26793
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Apnea, Hyperventilation OMIM:229700
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormality of... ORPHA:88618
Attrv122I Amyloidosis
Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Res... ORPHA:85451
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Broad thumb, Ventriculomegaly ORPHA:261295
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Urethral stricture, Abnormal oral mucosa morphology, Renal cyst, Aplasia/Hy... ORPHA:79404
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Spastic Paraplegia 75, Autosomal Recessive
Corpus callosum atrophy, Ventriculomegaly OMIM:616680
Leigh Syndrome
Abnormal circulating enzyme concentration or activity, Dystonia, Ataxia, Lacticaciduria, Methylma... ORPHA:506
Cholesteryl Ester Storage Disease
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis ORPHA:75234
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Microcephaly, Hip dislocation, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Vent... OMIM:613156
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Restlessness, Torticollis, Ataxia, Tremor, Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Recurrent respiratory infections, Respiratory failure, Hepatomegaly ORPHA:3226
Renal Agenesis, Bilateral
Pulmonary hypoplasia ORPHA:1848
Fibrodysplasia Ossificans Progressiva
Elevated circulating alkaline phosphatase concentration, Respiratory failure, Widely spaced teeth... OMIM:135100
Rett Syndrome
Short stature, Apnea, Intermittent hyperventilation OMIM:312750
Hereditary Motor And Sensory Neuropathy, Type Iic
Urinary incontinence, Stridor, Urinary urgency, Respiratory failure, Intercostal muscle weakness OMIM:606071
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinuria, Hepatocellular... OMIM:201475
Microcephaly 26, Primary, Autosomal Dominant
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call... OMIM:619179
Ethylene Glycol Poisoning
Renal insufficiency, Cyanosis, Ataxia, Gastritis, Tachypnea, Episodic respiratory distress, Renal... ORPHA:31826
Smith-Kingsmore Syndrome
Rhizomelia, Reduced cerebral white matter volume, Megalencephaly, Short proximal phalanx of finge... OMIM:616638
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Pelizaeus-Merzbacher Disease, Connatal Form
Ataxia, Inability to walk, Dystonic gait, Titubation, Respiratory failure, Difficulty walking ORPHA:280210
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... OMIM:265300
Neu-Laxova Syndrome
Intrauterine growth retardation, Hypogonadism, Pulmonary hypoplasia ORPHA:2671
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... ORPHA:88630
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Maternal diabetes ORPHA:45452
Xp21 Deletion Syndrome
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Growth delay,... ORPHA:261476
Moebius Syndrome
Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morphology, Talipes equinovaru... OMIM:157900
Pagod Syndrome
Death in infancy, Short stature, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Abnormality o... ORPHA:991
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Greenberg Dysplasia
Rhizomelia, Abnormal lung lobation, Severe short-limb dwarfism, Stillbirth, Pancreatic islet-cell... OMIM:215140
Joubert Syndrome With Oculorenal Defect
Abnormality of the hypothalamus-pituitary axis, Tachypnea, Apnea ORPHA:2318
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Hip dysplasia, Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Ventriculomegal... OMIM:618381
Oligomeganephronia
Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Neurodevelopmental Disorder With Dystonia And Seizures
Cerebral cortical atrophy, Ventriculomegaly OMIM:619922
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Microcephaly, Hydrocephalus, Hydranencephaly, Polymicrogyria, Agenesis... OMIM:225790
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Tapered finger, Short 4th toe, Ventriculomegaly, Short 3rd toe OMIM:618707
Megabladder, Congenital
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease OMIM:618719
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agenesis of corpus callosum OMIM:614833
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Dysplastic corpus callosum, Hypocholesterolemia OMIM:618810
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Respiratory insufficiency, Respiratory failure, 3-Methylglutaconic... OMIM:618329
Congenital Disorder Of Glycosylation, Type Ij
Apnea, Respiratory insufficiency OMIM:608093
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Sandal gap, Microcephaly, Hyperlipidemia, Deep palmar crease... ORPHA:254346
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
17Q12 Microduplication Syndrome
Microphthalmia, Polyhydramnios ORPHA:261272
Breath-Holding Spells
Cyanosis OMIM:607578
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Short stature, Renal agenesis, Partial anosmia, Total anosmia, Midgut malrotation, Clef... ORPHA:2326
Vacterl With Hydrocephalus
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:3412
Lissencephaly, X-Linked, 2
Pachygyria, Agenesis of corpus callosum, Ventriculomegaly, Lissencephaly OMIM:300215
Goodpasture Syndrome
Crackles, Nodular pattern on pulmonary HRCT, Tachypnea, Cough, Pulmonary infiltrates, Restrictive... OMIM:233450
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Hepatic steatosis OMIM:255120
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly OMIM:218350
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Hip dislocation, Ventriculomegaly, Microcephaly OMIM:619059
Maternal Uniparental Disomy Of Chromosome 1
Epiphyseal stippling, Abnormal limb bone morphology, Single transverse palmar crease, Ventriculom... ORPHA:251009
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Tachypnea, Pulmonary fibrosis OMIM:615934
Sandestig-Stefanova Syndrome
Rocker bottom foot, Primary microcephaly, Hypoplasia of the corpus callosum, Camptodactyly, Clino... OMIM:618804
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Ge... OMIM:615630
Lipodystrophy, Congenital Generalized, Type 3
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:99125
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly OMIM:614702
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Microcephaly, Ventriculomegaly, Micromelia ORPHA:2772
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Recurrent urinary tract infections, Hypospadias, Submucous cleft hard palate, Thick lower lip ver... OMIM:619103
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... OMIM:605282
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Tremor, Jaundice, Dysphagia, Hypopnea, Respiratory failure, 3-Methylglut... OMIM:617248
Methylcobalamin Deficiency Type Cble
Syndactyly, Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Clinodactyly,... ORPHA:2169
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... OMIM:300280
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Renal Agenesis
Pulmonary hypoplasia ORPHA:411709
Multiple Pterygium Syndrome, Escobar Variant
Neonatal respiratory distress, Short stature, Pulmonary hypoplasia OMIM:265000
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Growth delay, Recurrent respiratory infections, Apnea, Respiratory distress ORPHA:17
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Emphysema, Pulmonary fibrosis OMIM:620365
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Death in infancy, Ataxia, Elevated circulating creatine kinase concentration, Tremo... OMIM:610505
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... ORPHA:93323
Developmental And Epileptic Encephalopathy 49
Cerebral calcification, Microcephaly, Dysplastic corpus callosum, Hydrocephalus, Basal ganglia ca... OMIM:617281
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Pneumonia, Respiratory tract infection, Atelectas... ORPHA:51636
Amyotrophic Lateral Sclerosis
Dyspnea, Xerostomia, Abnormal respiratory system physiology, Respiratory failure, Agitation ORPHA:803
Pentalogy Of Cantrell
Pulmonary hypoplasia ORPHA:1335
Warburg Micro Syndrome 1
Microphthalmia, Short stature OMIM:600118
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Neonatal asphyxia, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Multiple ... ORPHA:2728
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Hepatomegaly, Atelectasis, Microvesicular hepatic steatosis, Ta... OMIM:618278
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... ORPHA:93259
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the... OMIM:609638
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... OMIM:613011
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Seckel Syndrome 2
Growth delay, Microphthalmia, Short stature OMIM:606744
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apneic episodes in infancy, Apnea, Hypercapnia, Respiratory insufficiency OMIM:618222
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Joubert Syndrome With Renal Defect
Abnormality of the hypothalamus-pituitary axis, Apnea, Abnormal pattern of respiration ORPHA:220497
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Hydronephrosis, Akinesia OMIM:607598
Mitochondrial Trifunctional Protein Deficiency
Cholestasis, Respiratory insufficiency, Respiratory failure, Tip-toe gait, Diffuse hepatic steato... ORPHA:746
Verloove Vanhorick-Brubakk Syndrome
Aplasia/Hypoplasia of the lungs, Abnormality of the parathyroid gland ORPHA:3429
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Growth delay, Acrocyanosis, Prominent nose, Truncal ataxia OMIM:614407
Lipoyltransferase 1 Deficiency
Abnormal cerebral white matter morphology, Ventriculomegaly OMIM:616299
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
Pierpont Syndrome
Microphthalmia, Short stature OMIM:602342
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly, Rocker bottom foot, Camptodactyly OMIM:604273
Meier-Gorlin Syndrome 4
Birth length less than 3rd percentile, Intrauterine growth retardation, Emphysema, Short stature OMIM:613804
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Broad-based gait, Ataxia, Steatorrhea, Dysmetria, Ga... ORPHA:14
Bohring-Opitz Syndrome
Recurrent respiratory infections, Short stature, Apnea, Intrauterine growth retardation ORPHA:97297
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:290
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Absent septum pellucidum, Microcephaly, Elbow flexion contracture, Broad palm, A... OMIM:300868
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
Marshall-Smith Syndrome
Short stature, Apnea, Recurrent upper respiratory tract infections, Stridor, Aspiration pneumonia... OMIM:602535
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Syndactyly, Anterior pituitary hypoplasia, Diaphyseal th... OMIM:151050
Cerebrooculofacioskeletal Syndrome 2
Growth delay, Microphthalmia, Intrauterine growth retardation OMIM:610756
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Microcephaly, Short first metatarsal, Short 5th toe, Prominent fingerti... OMIM:613684
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Abnormal lateral ventricle morphology, Cerebral calcification, Decreased r... ORPHA:1855
Scalp-Ear-Nipple Syndrome
Finger syndactyly, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly, Lateral ventricle dilatat... OMIM:181270
Kcnq2-Related Epileptic Encephalopathy
Apnea ORPHA:439218
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... OMIM:618779
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation OMIM:300863
Ulbright-Hodes Syndrome
Respiratory distress, Maternal diabetes, Postnatal growth retardation, Pneumothorax, Birth length... ORPHA:3404
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... ORPHA:1860
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly OMIM:614473
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... ORPHA:99106
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation OMIM:603194
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... OMIM:620107
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Recurrent urinary tract infections, Intestinal malrotation, Portal... OMIM:613658
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Anencephaly OMIM:611561
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Weaver Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Large hands, Talipes equinovarus, Abnorma... ORPHA:3447
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Apnea, Pulmonary artery stenosis, Growth delay, Chronic rhiniti... ORPHA:667
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Microcephaly, Triphalangeal thumb, Sh... ORPHA:2994
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation OMIM:617903
Alg9-Cdg
Rhizomelia, Asthma, Abnormal lung lobation, Hypoplasia of the ovary, Pulmonary hypoplasia ORPHA:79328
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Respiratory insufficiency, Res... OMIM:613845
Boutonneuse Fever
Elevated hepatic transaminase, Renal insufficiency, Respiratory failure ORPHA:83313
Mitochondrial Complex I Deficiency, Nuclear Type 19
Secondary microcephaly, Ventriculomegaly OMIM:618241
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Abnormal lung lobation, Neonatal death, Neonatal respiratory distress, Hypospadias, Eso... OMIM:265380
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Cerebral white matter hypoplasia, Periventricular white matter hyperintensities, Ventriculomegaly... ORPHA:500533
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Respiratory failure, Renal cyst, Death in infancy OMIM:614862
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Hypocomplementemic Urticarial Vasculitis
Dyspnea, Emphysema, Restrictive ventilatory defect, Cough, Pleural effusion, Airway obstruction ORPHA:36412
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand OMIM:603543
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Pulmonary hypoplasia OMIM:614080
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Submucous cleft... OMIM:619680
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the lungs, Short stature, Maternal diabetes ORPHA:2549
Joubert Syndrome With Ocular Defect
Abnormality of the hypothalamus-pituitary axis, Apnea, Abnormal pattern of respiration ORPHA:220493
Acromelic Frontonasal Dysplasia
Anterior pituitary hypoplasia, Aplasia/Hypoplasia of the tibia, Choroid plexus cyst, Patellar hyp... ORPHA:1827
Thoracoabdominal Syndrome
Pulmonary hypoplasia OMIM:313850
Buratti-Harel Syndrome
Hypospadias, Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent pneumonia, High... OMIM:619314
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Pulmonic sten... OMIM:616028
Fryns Syndrome
Pulmonary hypoplasia ORPHA:2059
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, C... ORPHA:340
Recombinant Chromosome 8 Syndrome
Cerebral atrophy, Secondary microcephaly, Camptodactyly, Clinodactyly of the 5th finger, Joint co... OMIM:179613
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities OMIM:619737
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Elevated p... ORPHA:1329
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Short stature, Unilateral microphthalmos OMIM:619318
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios ORPHA:228390
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy ORPHA:85414
Pyruvate Dehydrogenase Deficiency
Growth delay, Intrauterine growth retardation, Tachypnea, Dyspnea ORPHA:765
Intellectual Developmental Disorder, X-Linked 12
Abnormal cerebral white matter morphology, Hip subluxation, Ventriculomegaly, Microcephaly OMIM:300957
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Chand Syndrome
Hydroureter, Depressed nasal bridge, Ataxia, Atelectasis, Cleft palate, Bifid tongue ORPHA:1401
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cavum septum pellucidum, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:619074
Encephalopathy, Ethylmalonic
Death in infancy, Ataxia, Ethylmalonic aciduria, Acrocyanosis, Petechiae OMIM:602473
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Coxa vara, Radioul... OMIM:614701
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation OMIM:209880
Martsolf Syndrome 1
Enlarged sylvian cistern, Short metacarpal, Broad femoral neck, Microcephaly, Metatarsus adductus... OMIM:212720
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, Widely spaced te... OMIM:619950
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
2Q31.1 Microdeletion Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... ORPHA:251014
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... OMIM:616331
Apert Syndrome
Syndactyly, Finger syndactyly, Absent septum pellucidum, Limited elbow movement, Megalencephaly, ... OMIM:101200
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Hepati... ORPHA:42
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Overlapping toe, Down-sloping shoulders, Tapered finger, Microcephaly, Talipes equinovarus, Hypop... OMIM:617452
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Microcephaly, Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Abnormal per... ORPHA:466934
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of the 5th finger, Brac... OMIM:619451
Distal Deletion 15Q
Decreased serum insulin-like growth factor 1, Short stature, Postnatal growth retardation, Growth... ORPHA:1596
Illum Syndrome
Apnea OMIM:208155
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Type II lissencephaly, Microcephaly, Hydrocephalus, Diffuse white matte... ORPHA:370959
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Clinodactyly, Arachnodactyly, Microcephaly OMIM:619092
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Waddling gait, Respiratory ... ORPHA:98915
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Central apnea OMIM:615157
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Smith-Magenis Syndrome
Toe syndactyly, Hypertriglyceridemia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Co... ORPHA:819
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Blomstrand Lethal Chondrodysplasia
Neonatal short-limb short stature, Rhizomelia, Pulmonary hypoplasia ORPHA:50945
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Leukoencephalopathy, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Small basal gan... ORPHA:88639
Aicardi-Goutieres Syndrome 1
Short stature, Inability to walk, Erythema, Multiple gastric polyps, Prolonged neonatal jaundice,... OMIM:225750
Intellectual Developmental Disorder, Autosomal Dominant 21
Single transverse palmar crease, Ventriculomegaly, Microcephaly OMIM:615502
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Short stature, Postnatal growth retardation, Tachypnea, Death in childhood, Pul... OMIM:613320
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly OMIM:300958
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia OMIM:308350
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hypoplasia of the corpus callosum, Ventriculomegaly OMIM:620210
Netherton Syndrome
Recurrent respiratory infections, Emphysema, Short stature, Asthma ORPHA:634
Spondylodysplastic Ehlers-Danlos Syndrome
Agenesis of pineal gland, Short stature, Respiratory insufficiency, Restrictive ventilatory defec... ORPHA:536471
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Peripheral pulmonary artery stenosis, Intestinal malrotation, Abnormal... ORPHA:2712
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Tuberous Sclerosis Complex
Respiratory distress, Hyperactivity, Renal insufficiency, Abnormality of the kidney, Impulsivity,... ORPHA:805
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Short stature OMIM:300887
Relapsing Polychondritis
Glomerulopathy, Renal insufficiency, Proteinuria, Dyspnea, Atelectasis, Erythema, Anteriorly plac... ORPHA:728
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Microcephaly, Short 5th finger, Hypoplasia of the corpus callosum, Acromesomelia, Abnormal perive... ORPHA:500159
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, High palate, Wide nasal bridge, Hypoplastic nasal tip ORPHA:3304
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Cyanosis, Exertional dyspnea OMIM:250800
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ... ORPHA:1515
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardi... ORPHA:77259
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Overlapping toe, Microcephaly, Hip dislocation, Elbow flexion contracture, Talip... OMIM:617301
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color ORPHA:90037
Bresek Syndrome
Growth delay, Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation ORPHA:85284
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Short metat... OMIM:618150
X-Linked Lissencephaly With Abnormal Genitalia
Pachygyria, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly ORPHA:452
Geleophysic Dysplasia 3
Hepatomegaly, Pneumonia, Dyspnea, Respiratory failure, Thick vermilion border, Long philtrum OMIM:617809
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea OMIM:210200
Holzgreve Syndrome
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation ORPHA:2167
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Preaxial polydactyly, Microcephaly ORPHA:64754
Basilicata-Akhtar Syndrome
Short palm, Single transverse palmar crease, Short foot, Camptodactyly, Ventriculomegaly, Adducte... OMIM:301032
Cardiocranial Syndrome, Pfeiffer Type
Growth delay, Intrauterine growth retardation, Short stature, Episodic tachypnea ORPHA:2872
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Pulmonary hypoplasia, Respiratory ... ORPHA:83617
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... ORPHA:95699
Filippi Syndrome
Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Cutaneous syndactyly, Finger c... OMIM:272440
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Overlapping toe, Ventriculomegaly, Camptodactyly ORPHA:363444
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Microcephaly, Colpocephaly, Talipes equino... OMIM:617260
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage, C... ORPHA:2038
Fontaine Progeroid Syndrome
Death in infancy, Short stature, Pneumothorax, Respiratory insufficiency, Pulmonary arterial hype... OMIM:612289
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Microcephaly, Simplified gyral pattern, Agenesis of corpus callosum, Cerebral cortical atrophy, V... OMIM:617669
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Hepatomegaly, Death in infancy, Ataxia, Apnea, Hypospadias, Splen... OMIM:252010
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly ORPHA:1114
Neonatal Lupus Erythematosus
Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Di... ORPHA:398124
Cholera
Tachypnea, Miscarriage, Aspiration pneumonia, Hyperventilation ORPHA:173
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Micronodular cirrhosis, ... OMIM:606003
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... OMIM:300908
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Lissencephaly Due To Lis1 Mutation
Thick cerebral cortex, Ventriculomegaly, Progressive microcephaly, Anterior predominant thick cor... ORPHA:95232
Refsum Disease, Classic
Cardiomyopathy, Abnormal renal physiology, Cardiomegaly OMIM:266500
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation ORPHA:2063
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Fatal Familial Insomnia
Apnea OMIM:600072
Trichorhinophalangeal Syndrome Type 2
Bilateral single transverse palmar creases, Microcephaly, Avascular necrosis of the capital femor... ORPHA:502
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Microcephaly, Cerebral atrophy, Short 5th finger, Triphalangeal thumb, Clinodactyly of the 5th fi... OMIM:220500
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Anemia OMIM:618107
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Pulmonary hypoplasia OMIM:617925
Ring Chromosome 21 Syndrome
Syndactyly, Microcephaly, Small hand, Narrow palm, Clinodactyly ORPHA:1445
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Dicarboxylic aciduria, Oliguria, Respiratory insufficiency, Leth... ORPHA:159
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Cerebral calcification, Metaphyseal widening, Hydrocephalus, Diaphyseal sclerosis, Hyperintensity... OMIM:618476
Ring Chromosome 10 Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1438
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... ORPHA:90051
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Pitt-Hopkins Syndrome
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease... OMIM:610954
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Microcephaly, Hydrocephalus, Anen... ORPHA:1908
Acrorenal-Mandibular Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:200980
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis ORPHA:444013
Acrootoocular Syndrome
Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal finger flexion crease, Decrease... ORPHA:2980
Malignant Atrophic Papulosis
Intestinal fistula, Intestinal perforation, Peritonitis, Respiratory failure, Pleural effusion, A... ORPHA:679
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly, Microcephaly OMIM:615284
Pontocerebellar Hypoplasia, Type 7
Apnea OMIM:614969
Holt-Oram Syndrome
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ... ORPHA:392
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Ce... OMIM:602782
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Abnormality of the kidney, Abnormal stomach morphology, Neonatal ... ORPHA:141127
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinodactyly of the 5th finge... OMIM:300963
Meier-Gorlin Syndrome 7
Growth delay, Short stature, Pulmonary hypoplasia OMIM:617063
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Rhizomelia ORPHA:93267
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad... OMIM:618935
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Bilateral single transverse palmar creases, Camptodactyly of finger, Microcephaly, Ventriculomega... ORPHA:2083
Trisomy 13
Anophthalmia, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growt... ORPHA:3378
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Periventricular leukomalacia, Hip dislocation, Hypoplasia of the corpus callosum, Ventriculomegaly OMIM:618547
Listeriosis
Respiratory distress, Liver abscess, Ataxia, Pneumonia, Miscarriage, Tremor, Jaundice, Peritoniti... ORPHA:533
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Toe syndactyly, Single transverse palmar crease, Tapered finger, Microcephaly, Thin corpus callos... OMIM:619720
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Orofaciodigital Syndrome Xvi
Apnea OMIM:617563
Amish Lethal Microcephaly
Hepatomegaly, Organic aciduria, Cleft soft palate, Death in infancy ORPHA:99742
Otopalatodigital Syndrome Type 2
Pulmonary hypoplasia ORPHA:90652
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Recurrent respiratory infections, Anal stenosis, Deep philtru... ORPHA:647
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle OMIM:173800
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly OMIM:306000
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Severe short stature, Primary adrenal insufficiency, Growth del... ORPHA:2753
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Tracheobronchomalacia, Recurrent uppe... OMIM:114290
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Hydronephrosis, Respiratory failure OMIM:620327
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Pulmonary hypoplasia OMIM:616546
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Monosomy 18P
Microphthalmia, Short stature, Lymphedema ORPHA:1598
Chromosome 19P13.13 Deletion Syndrome
Ventriculomegaly, Microcephaly OMIM:613638
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Ascites, Short stature OMIM:602361
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Trisomy 1Q
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Hydrocephalus... ORPHA:261344
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Meckel Syndrome, Type 4
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation OMIM:611134
Pancreatic And Cerebellar Agenesis
Death in infancy, Diabetes mellitus, Apnea, Severe intrauterine growth retardation OMIM:609069
Malan Syndrome
Long fingers, Hypoplasia of the corpus callosum, Ventriculomegaly, Coxa valga OMIM:614753
Intellectual Developmental Disorder, Autosomal Dominant 51
Long toe, Talipes equinovarus, Ventriculomegaly OMIM:617788
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Split hand, Absent hand, Oligodactyly ORPHA:2440
Pontocerebellar Hypoplasia, Type 2B
Single transverse palmar crease, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Progre... OMIM:612389
Adams-Oliver Syndrome
Finger syndactyly, Brachydactyly, Hydrocephalus, Split hand, Absent toe, Absent hand, Porencephal... ORPHA:974
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Periventricular leukomalacia, Arachnodactyly, Absent thumb, Dysplastic corpus callosum, Simplifie... ORPHA:500150
Cerebellofaciodental Syndrome
Single transverse palmar crease, Tapered finger, Microcephaly, Shortening of all distal phalanges... OMIM:616202
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... OMIM:605432
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis... ORPHA:829
Glass Syndrome
Short stature, Apnea OMIM:612313
Orofaciodigital Syndrome Type 6
Growth delay, Short stature, Apnea, Episodic tachypnea ORPHA:2754
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cerebral calcification, Ventriculomegaly, Microcephaly ORPHA:1933
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation ORPHA:163966
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Oligohydramnios OMIM:619053
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly OMIM:620001
Huntington Disease-Like 1
Abnormal shoulder morphology, Abnormal basal ganglia morphology, Cerebral cortical atrophy, Ventr... ORPHA:157941
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Microcephaly, Lissencephaly, Ventriculomegaly OMIM:616038
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Absence of Stensen duct, Xerostomia, Ectodermal dysplasia, Urete... OMIM:129900
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Microcephaly, Metatarsus adductus, Hydrocephalus, Polymicrogyria, Leukoe... OMIM:607872
Walker-Warburg Syndrome
Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Hydrocephalus, Ma... ORPHA:899
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea OMIM:620085
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Pallidal degeneration, T2 hypointense basal ganglia, Abnormal putame... ORPHA:25
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Autosomal Recessive Cutis Laxa Type 1
Small bowel diverticula, Recurrent urinary tract infections, Pyloric stenosis, Pneumothorax, Recu... ORPHA:90349
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Congenital Fibrinogen Deficiency
Cyanosis, Micropenis, Volvulus, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Laurence-Moon Syndrome
Finger syndactyly, Brachydactyly, Hand polydactyly, Bilateral single transverse palmar creases ORPHA:2377
Multifocal Atrial Tachycardia
Dyspnea, Tachypnea, Hypothyroidism ORPHA:3282
Baraitser-Winter Syndrome 1
Microcephaly, Duplication of phalanx of hallux, Lissencephaly, Pachygyria, Agenesis of corpus cal... OMIM:243310
Skraban-Deardorff Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly OMIM:617616
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Agyria, Type II lissencephaly, Pachygyria, Hydrocephalus, Partial agenesis of the corpus callosum... OMIM:614643
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Microcephaly 30, Primary, Autosomal Recessive
Clinodactyly of the 5th finger, Cerebral cortical atrophy, Ventriculomegaly, Primary microcephaly OMIM:620183
Smith-Lemli-Opitz Syndrome
Death in infancy, Short stature, Precocious puberty, Abnormal lung lobation, Growth delay, Pulmon... OMIM:270400
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Short stature, Unilateral renal agenesis, High, narrow pala... OMIM:188400
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Hypoplasia of the corpus callosum, Decreased response to growth hormone stimulatio... OMIM:609757
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Respiratory tract infection, Tachypnea ORPHA:36234
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Alg8-Cdg
Leukoencephalopathy, Talipes equinovarus, Hypoplasia of the corpus callosum, Camptodactyly, Cereb... ORPHA:79325
Fryns Syndrome
Chylothorax, Stillbirth, Pulmonary hypoplasia OMIM:229850
Congenital Disorder Of Glycosylation, Type Ii
Focal T2 hyperintense basal ganglia lesion, Thin corpus callosum, Ventriculomegaly, Microcephaly OMIM:607906
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Apnea OMIM:618056
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele OMIM:136760
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy OMIM:252900
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ... ORPHA:228308
Hydrolethalus
Microphthalmia, Anophthalmia, Anencephaly, Polyhydramnios ORPHA:2189
Developmental And Epileptic Encephalopathy 80
Tapered finger, Abnormal cerebral white matter morphology, Talipes equinovarus, Triphalangeal thu... OMIM:618580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Ritscher-Schinzel Syndrome 1
Syndactyly, Hydrocephalus, Decreased response to growth hormone stimulation test, Dandy-Walker ma... OMIM:220210
Aromatic L-Amino Acid Decarboxylase Deficiency
Apnea, Cardiorespiratory arrest OMIM:608643
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Apnea, Respiratory insufficiency, Congenital hypothyroidism OMIM:617527
Prune Belly Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections ORPHA:2970
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Poliomyelitis
Respiratory failure requiring assisted ventilation, Anorexia, Inability to walk, Paralytic ileus,... ORPHA:2912
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Biotinidase Deficiency
Tachypnea, Apnea OMIM:253260
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Necrotizing Enterocolitis
Apnea ORPHA:391673
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Recurrent respiratory infections, Hypospadias, Cleft soft palate, Hypoxemia, Submucous cleft soft... ORPHA:2282
Joubert Syndrome With Hepatic Defect
Abnormality of the hypothalamus-pituitary axis, Apnea, Abnormal pattern of respiration ORPHA:1454
Multiple Sulfatase Deficiency
Broad hallux, Hydrocephalus, Cerebral atrophy, Abnormal periventricular white matter morphology, ... OMIM:272200
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short... ORPHA:85194
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of the lymphatic system, Hepato... ORPHA:464329
Semilobar Holoprosencephaly
Central apnea, Short stature, Decreased response to growth hormone stimulation test, Diabetes ins... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Short stature, Decreased response to growth hormone stimulation test, Diabetes ins... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Short stature, Decreased response to growth hormone stimulation test, Diabetes ins... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Short stature, Decreased response to growth hormone stimulation test, Diabetes ins... ORPHA:93924
Oculopalatocerebral Syndrome
Microphthalmia, Short stature OMIM:257910
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Temtamy Syndrome
Microphthalmia ORPHA:1777
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Ventriculomegaly, Cerebral atrophy OMIM:616430
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Nocardiosis
Respiratory distress, Liver abscess, Pneumonia, Anorexia, Productive cough, Nonproductive cough, ... ORPHA:31204
Fetal Akinesia Deformation Sequence 1
Intrauterine growth retardation, Stillbirth, Pulmonary hypoplasia OMIM:208150
Legionnaires Disease
Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Hepatitis, E... ORPHA:549
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Cardiomyopathy... ORPHA:465508
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Arachnodactyly, Coxa valga, Elbow dislocation, Microcephaly, Metaphyseal widening, Hip dislocatio... OMIM:620083
Ear-Patella-Short Stature Syndrome
Respiratory distress, Hypoplasia of penis, Hypospadias, Dyspnea, High, narrow palate, Submucous c... ORPHA:2554
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation OMIM:617914
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Adrenal gland agenesis, Pulmonary hypoplasia OMIM:273395
Galloway-Mowat Syndrome 9
Microcephaly, Secondary microcephaly, Cerebral cortical atrophy, Thin corpus callosum, Ventriculo... OMIM:619603
Gillespie Syndrome
Thin corpus callosum, Ventriculomegaly OMIM:206700
Bohring-Opitz Syndrome
Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Tapered finger, Mesomelic/rhizomelic l... OMIM:605039
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Dental crowding, Hypercapnia, Respiratory insufficiency due to ... ORPHA:2020
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Anterior pituitary hypoplasia, Short 4th metacarpal, Short foo... ORPHA:264200
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Reduced cerebral white matter volume, Microcephaly, Perisylvian polymicrogyria, Flared metaphysis... OMIM:610442
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, Monkey wrench femoral ne... OMIM:615777
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly OMIM:268800
Chromosome 2P16.1-P15 Deletion Syndrome
Arachnodactyly, Microcephaly, Metatarsus adductus, Pachygyria, Cortical dysplasia, Calcaneovalgus... OMIM:612513
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Cutis Laxa, Autosomal Recessive, Type Ia
Bladder diverticulum, Recurrent respiratory infections, Emphysema OMIM:219100
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Postaxial polydactyly, Microcephaly, Hydrocephalus, Cerebral atrophy,... OMIM:614576
Grange Syndrome
Syndactyly, Short palm ORPHA:79094
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Restrictive Dermopathy 1
Adrenal hypoplasia, Stillbirth, Pulmonary hypoplasia, Neonatal death, Intrauterine growth retarda... OMIM:275210
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Short stature ORPHA:2788
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Splenomegaly, Gingival overgrowth, Hepatosplenomegaly, Respiratory failure, Stillbi... OMIM:259720
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short stature, Miscarriage, Postnatal growth retardation, Pulmonary artery stenosis, Growth delay... ORPHA:96334
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Infantile Krabbe Disease
Respiratory distress, Abnormal circulating enzyme concentration or activity, Respiratory failure,... ORPHA:206436
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Ataxia ORPHA:1861
Ethylmalonic Encephalopathy
Acrocyanosis, Ataxia, Ethylmalonic aciduria, Petechiae ORPHA:51188
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Microcephaly, Small hand, Short foot, Hypo... OMIM:241410
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
16Q24.3 Microdeletion Syndrome
Proximal placement of thumb, Colpocephaly, Hip dysplasia, Hypoplasia of the corpus callosum, Vent... ORPHA:261250
Roifman-Chitayat Syndrome
Cone-shaped epiphysis, Short metacarpal, Short metatarsal, Ventriculomegaly OMIM:613328
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Respiratory failure, Vestibular areflexia, Dystonia ORPHA:3240
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Elevated ci... OMIM:305400
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... ORPHA:30
Isolated Osteopoikilosis
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... ORPHA:166119
Fraser Syndrome 2
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplas... OMIM:617666
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Rocker bottom foot, Coxa valga, Microcephaly, Postaxial hand polydactyly, Postaxial foot polydact... OMIM:301056
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Umbilical hernia, Short stature, Edema ORPHA:2505
Lymphatic Malformation 6
Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Per... OMIM:616843
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Cerebral white matter atrophy, Single transverse palmar ... ORPHA:521426
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Short stature, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Ab... ORPHA:90796
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Pulmonary artery dilatation, Tachypnea OMIM:613834
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... ORPHA:3258
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Smith-Lemli-Opitz Syndrome
Rhizomelia, Short stature, Abnormal lung lobation, Growth delay, Pulmonary hypoplasia, Intrauteri... ORPHA:818
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Hypoventilation, Lethargy, Breathing dysregulation OMIM:618232
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia ORPHA:1112
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Leukodystrophy, Hypomyelinating, 12
Secondary microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly OMIM:616683
Basel-Vanagaite-Smirin-Yosef Syndrome
Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Cerebral atrophy, Hypoplasia o... OMIM:616449
Bloom Syndrome
Recurrent urinary tract infections, Pneumonia, Bronchitis, Respiratory tract infection, Esophagea... ORPHA:125
Intellectual Developmental Disorder, Autosomal Dominant 64
Single transverse palmar crease, Microcephaly, Clinodactyly of the 5th finger, Prominent fingerti... OMIM:619188
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... ORPHA:57777
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Birk-Barel Syndrome
Tented upper lip vermilion, High palate, Short philtrum, Dysphagia, Submucous cleft soft palate, ... OMIM:612292
Cerebrocostomandibular Syndrome
Neonatal respiratory distress, Anal stenosis, Cleft soft palate, Ectopic kidney, Carious teeth, C... OMIM:117650
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Absent septum pellucidum, Mic... ORPHA:87
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Histiocytoid Cardiomyopathy
Cyanosis, Hydrocephalus, Tachypnea, Cleft palate, Renal cyst, Cough, Lethargy, Pulmonary edema ORPHA:137675
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation, Microcephaly OMIM:614098
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Radial deviation of the hand, Rocker bottom foot, Microcephaly, Hip dislocation,... OMIM:301041
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Stillbirth OMIM:263630
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis OMIM:235555
Holocarboxylase Synthetase Deficiency
Growth delay, Tachypnea, Respiratory distress ORPHA:79242
Dpm1-Cdg
Sandal gap, Cerebral atrophy, Secondary microcephaly, Camptodactyly, Limb undergrowth, Hypoplasia... ORPHA:79322
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Dilated cardiomy... OMIM:614921
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Ventriculomegaly, Contracture of the proximal interphalangeal joint of the 2nd finger, Decreased ... OMIM:612394
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Micropenis, Cyanosis, Hypospadias OMIM:250790
Mitochondrial Complex I Deficiency, Nuclear Type 37
Microcephaly, Corpus callosum atrophy, Cerebral atrophy, Cerebral cortical atrophy, Ventriculomegaly OMIM:619272
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Growth delay, Pulmonary arterial hypertension, Tachypnea OMIM:614857
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Metaphyseal widening, Triangular shaped distal phalanges of the hand, Slender long bone, Abnormal... ORPHA:73230
3-Hydroxy-3-Methylglutaric Aciduria
Tachypnea, Apnea ORPHA:20
Intellectual Developmental Disorder, Autosomal Dominant 54
Growth delay, Short stature, Apnea, Hyperventilation OMIM:617799
Schilbach-Rott Syndrome
Hypospadias, Submucous cleft hard palate, Attention deficit hyperactivity disorder, Narrow mouth,... OMIM:164220
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Rodrigues Blindness
Microphthalmia, Short stature OMIM:268320
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Lymphedema OMIM:152950
Robinow Syndrome, Autosomal Recessive 2
Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, Long philtrum, Triangular m... OMIM:618529
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Syndactyly, Cerebral cortical atrophy, Congenital bilateral hip dislocation ORPHA:404451
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... OMIM:617412
Buerger Disease
Acrocyanosis ORPHA:36258
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Recurrent pneumonia, Air bronchogram, Rectal abscess, Cough, Pleural effusion OMIM:306400
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocy... OMIM:230800
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Houge-Janssens Syndrome 3
Hypoplasia of the corpus callosum, Single transverse palmar crease, Ventriculomegaly, Microcephaly OMIM:618354
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Familial Exudative Vitreoretinopathy
Microphthalmia, Macular edema, Lymphedema ORPHA:891
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 2nd finger, Sandal gap, Broad hallux, Microcephaly, 2-3 toe syndactyly, Cutaneous syndactyl... OMIM:600987
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, Ventriculomegaly ORPHA:370997
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Submucous cleft hard palate, Bifid uvula OMIM:619239
Schinzel-Giedion Syndrome
Respiratory distress, Streak ovary, Recurrent pneumonia, Central hypothyroidism, Pulmonary hypopl... ORPHA:798
Cocaine Intoxication
Respiratory distress, Diffuse alveolar hemorrhage, Hyperventilation, Wheezing, Pneumothorax, Tach... ORPHA:90068
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Postaxial polydactyly, Ventriculomegaly OMIM:219730
Hereditary Bullous Dystrophy, Macular Type
Growth delay, Acrocyanosis, Short stature, Pneumonia ORPHA:1867
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebral calcification, Hydrocephalus, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria,... OMIM:616538
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Hyperimmunoglobulinemia D With Periodic Fever
Intestinal obstruction, Ataxia, Erythema, Urticaria, Growth delay, Acrocyanosis, Purpura ORPHA:343
Warburg Micro Syndrome 3
Microcephaly, Secondary microcephaly, Hypoplasia of the corpus callosum, Clinodactyly of the 5th ... OMIM:614222
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Tremor, Rectal prolapse,... ORPHA:904
Houge-Janssens Syndrome 1
Hydrocephalus, Congenital hip dislocation, Ventriculomegaly OMIM:616355
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Beck-Fahrner Syndrome
Hip dysplasia, Periventricular leukomalacia, Ventriculomegaly, Microcephaly OMIM:618798
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Tapered finger, Abnormal cerebral white matter morphology, Talipes equinovarus, Hypoplasia of the... OMIM:614501
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Proximal placement of thumb, Microcephaly, Postaxial foot polydactyly, Agenesi... ORPHA:139471
Silver-Russell Syndrome 1
Syndactyly, Decreased response to growth hormone stimulation test, Short distal phalanx of the 5t... OMIM:180860
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... ORPHA:90033
Arterial Tortuosity Syndrome
Respiratory distress, Hiatus hernia, Dyspnea, Pulmonary artery stenosis, Pyloric stenosis, Cardio... ORPHA:3342
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Radioulnar synostosis... OMIM:212780
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta, Short stature OMIM:169550
Brain Malformations With Or Without Urinary Tract Defects
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly OMIM:613735
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Neuronal loss in basal ganglia, Cerebral atrophy, Basal ganglia gliosis, Focal cortical dysplasia... OMIM:604377
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Abnormal basal ganglia MRI signal intensity, Hypoplasia of the corpus callosum, Ventriculomegaly,... ORPHA:431361
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Small pituitary gland, Ventriculomegaly OMIM:614195
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia OMIM:610125
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v... OMIM:618106
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Short stature ORPHA:3191
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Respiratory failure requiring assisted ventilation, Tented upper l... ORPHA:273
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... ORPHA:93260
20P13 Microdeletion Syndrome
Finger syndactyly, Microcephaly, Polydactyly, Clinodactyly, Brachydactyly ORPHA:313781
1P31P32 Microdeletion Syndrome
Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum ORPHA:401986
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Short long bone, Apl... ORPHA:2256
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... OMIM:616084
Pseudoleprechaunism Syndrome, Patterson Type
Palmoplantar cutis laxa, Intrauterine growth retardation, Bladder diverticulum, Prominent nose ORPHA:2976
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... OMIM:217085
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Emph... ORPHA:1572
Schizophrenia 1
Syndactyly, Short proximal phalanx of the 4th toe OMIM:181510
Pontocerebellar Hypoplasia, Type 2E
Microcephaly, Cerebral atrophy, Progressive microcephaly, Secondary microcephaly, Hypoplasia of t... OMIM:615851
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... ORPHA:710
Double Outlet Left Ventricle
Pulmonary artery stenosis, Tachypnea, Cyanosis ORPHA:3427
Neu-Laxova Syndrome 1
Neonatal death, Intrauterine growth retardation, Stillbirth, Pulmonary hypoplasia OMIM:256520
Acrofrontofacionasal Dysostosis 2
Syndactyly, Broad hallux, Microcephaly, Hand polydactyly, Broad thumb OMIM:239710
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Rhizomelic Chondrodysplasia Punctata, Type 2
Decreased circulating plasmalogen concentration, Submucous cleft hard palate, High palate OMIM:222765
Eem Syndrome
Finger syndactyly, Ectrodactyly ORPHA:1897
Isolated Sedoheptulokinase Deficiency
Hip dysplasia, Subcortical cerebral atrophy, Ventriculomegaly, Steatorrhea ORPHA:440713
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Ventriculomegaly OMIM:618314
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Cerebral calcification, Toe syndactyly, Arachnodactyly, Microcephaly, Short palm ORPHA:73246
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Short stature, Apnea, Breathing dysregulation, Abnormality of the endocrine syst... ORPHA:438213
Pallister-Hall Syndrome
Syndactyly, Decreased circulating cortisol level, Mesoaxial foot polydactyly, Toe syndactyly, Dec... OMIM:146510
Pontocerebellar Hypoplasia, Type 10
Reduced cerebral white matter volume, Tapered finger, Microcephaly, Simplified gyral pattern, Pro... OMIM:615803
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Coffin-Lowry Syndrome
Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tapered finger, Microcephaly... ORPHA:192
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Microcephaly, Coxa vara, Narrow pelvis bone, Abnormal epiphysis morphology, Hypoplasi... ORPHA:2637
Aarskog-Scott Syndrome
Finger syndactyly, Single transverse palmar crease, Camptodactyly of finger, Small hand, Broad pa... ORPHA:915
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Axial Mesodermal Dysplasia Spectrum
Aplasia/Hypoplasia of the lungs, Short stature ORPHA:1834
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Increased hepatic glycogen content, 3-Methylglutaconic aciduria, Cardiomegaly OMIM:619259
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Respiratory t... ORPHA:79138
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Increased nuchal translucency, Oligohydramnios OMIM:618494
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... ORPHA:131
Osteogenesis Imperfecta
Neonatal respiratory distress, Rhizomelia, Short stature, Growth delay, Pulmonary hypoplasia, Int... ORPHA:666
Autosomal Recessive Spastic Paraplegia Type 77
Sudden episodic apnea ORPHA:466722
Schwartz-Jampel Syndrome
Death in infancy, Short stature, Apnea, Respiratory insufficiency, Pulmonary arterial hypertension ORPHA:800
Takenouchi-Kosaki Syndrome
Overlapping toe, Proximal placement of thumb, Tapered finger, Abnormal cerebral white matter morp... OMIM:616737
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome
Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Primary microcephaly ORPHA:404473
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Sarcoidosis, Susceptibility To, 1
Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Restri... OMIM:181000
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly ORPHA:238769
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... ORPHA:822
Fg Syndrome Type 1
Finger syndactyly, Limited elbow extension and supination, Broad toe, Single transverse palmar cr... ORPHA:93932
Joubert Syndrome 2
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608091
Williams-Beuren Syndrome
Rectal prolapse, Premature graying of hair, Nephrocalcinosis, Vesicoureteral reflux, Micropenis, ... OMIM:194050
Desmosterolosis
Absent septum pellucidum, Micromelia, Abnormal cortical gyration, Metatarsus adductus, Microcepha... ORPHA:35107
Rere-Related Neurodevelopmental Syndrome
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation ORPHA:494344
Cadds
Abnormal cerebral white matter morphology, Ventriculomegaly ORPHA:369942
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Apnea ORPHA:395
Congenital Disorder Of Glycosylation, Type Iim
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly OMIM:300896
Biliary, Renal, Neurologic, And Skeletal Syndrome
Syndactyly, Anterior pituitary hypoplasia, Postaxial polydactyly, Aqueductal stenosis, Hydrocepha... OMIM:619534
Meckel Syndrome, Type 1
Intrauterine growth retardation, Pulmonary hypoplasia, Adrenal hypoplasia OMIM:249000
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Pulmonary carcinoid tumor, Hypercholesterolemia, Emphysema, Abnormality of ... ORPHA:363618
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Periventricular leukomalacia, Cerebral calcification, Microcephaly, Leuko... OMIM:620024
Short Stature With Microcephaly And Distinctive Facies
Syndactyly, Short digit, Proximal placement of thumb, Microcephaly, Talipes equinovarus, Hypoplas... OMIM:615789
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Depressed nasal bridge, Poor wound healing, Recurrent pneumonia, Respiratory insufficiency, Exces... OMIM:225400
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation ORPHA:255210
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
Heart And Brain Malformation Syndrome
Growth delay, Microphthalmia, Polyhydramnios OMIM:616920
Opitz-Kaveggia Syndrome
Syndactyly, Broad hallux, Single transverse palmar crease, Hydrocephalus, Partial agenesis of the... OMIM:305450
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Smooth philtrum OMIM:614526
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Dilated cardiomyopathy, Cholestasis, Lym... OMIM:615895
Kleefstra Syndrome Due To A Point Mutation
Microcephaly, Tapered finger, Abnormal cerebral white matter morphology, Hypoplasia of the corpus... ORPHA:261652
Fetal Alcohol Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1915
Cardiac-Urogenital Syndrome
Scimitar anomaly, Partial anomalous pulmonary venous return, Pulmonary hypoplasia, Tracheomalacia OMIM:618280
Peho Syndrome
Tapered finger, Microcephaly, Hydrocephalus, Porencephalic cyst, Cerebral cortical atrophy, Ventr... ORPHA:2836
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Calcaneovalgus deformity, Large basal ganglia, Agenesis of corpus callosum, Long hallux, Long toe... ORPHA:261537
Shashi-Pena Syndrome
Short metacarpal, Reduced cerebral white matter volume, Mild fetal ventriculomegaly, Deep palmar ... OMIM:617190
Carey-Fineman-Ziter Syndrome
Cerebral calcification, Microcephaly, Aplasia of the pectoralis major muscle, Ulnar deviation of ... ORPHA:1358
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Joubert Syndrome 37
Microphthalmia, Short stature OMIM:619185
Pettigrew Syndrome
Cerebral calcification, Microcephaly, Aqueductal stenosis, Basal ganglia calcification, Hydroceph... OMIM:304340
Neurooculorenal Syndrome
Ectopic posterior pituitary, Decreased circulating cortisol level, Short hallux, Aqueductal steno... OMIM:620305
Combined Oxidative Phosphorylation Deficiency 14
Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Basal ganglia gliosis, Cerebral cortica... OMIM:614946
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Penile Agenesis
Bilateral lung agenesis, Pulmonary hypoplasia, Maternal diabetes ORPHA:49
Combined D-2- And L-2-Hydroxyglutaric Aciduria
Ventriculomegaly, Microcephaly OMIM:615182
Velocardiofacial Syndrome
Aggressive behavior, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequ... OMIM:192430
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Broad hallux, Tapered finger, Short thumb, Hip dysplasia, Bilateral talipes equinovarus, Perivent... OMIM:620224
Native American Myopathy
Inability to walk, Respiratory insufficiency, Cleft palate, Downturned corners of mouth, High pal... ORPHA:168572
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:616395
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... OMIM:610042
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Alg12-Cdg
Ulnar deviation of the wrist, Sandal gap, Proximal placement of thumb, Long fingers, Short long b... ORPHA:79324
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Short stature OMIM:147250
Citrullinemia Type I
Tachypnea ORPHA:247525
Myasthenia Gravis
Dyspnea, Glycosuria, Acrocyanosis, Dysphagia ORPHA:589
Joubert Syndrome 1
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:213300
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Single transverse palmar crease, Tapered finger, Microcephaly, Broad palm, Cerebral atrophy, Prom... OMIM:617804
Cleft Soft Palate
Cleft soft palate OMIM:119570
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Sandal gap, Hydrocephalus, Abnormal fibula morphology, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1812
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis, Intestinal malrotation OMIM:249210
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Short metacarpal, Limited elbow movement, Microcephaly, Preaxial hand polydactyly, Enlarged metap... ORPHA:508533
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Proximal placement of thumb, Microcephaly, Short palm, Clinodactyly, Agenesis of corp... OMIM:217980
3C Syndrome
Finger syndactyly, Hydrocephalus, Hand polydactyly, Abnormal hip bone morphology, Dandy-Walker ma... ORPHA:7
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht... OMIM:153400
Cutis Laxa, Autosomal Dominant 1
Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis OMIM:123700
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Long fingers, Cortical dysplasia, Bilateral talipes equinovarus, Talipes equinovarus, Camptodacty... OMIM:618343
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Apnea, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, ... ORPHA:2751
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Exaggerated cupid's bow, Macroglossia, Respiratory failure, Open mouth, Hydronephrosis ORPHA:254528
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia, Growth delay OMIM:120200
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation ORPHA:3301
Fanconi Anemia, Complementation Group B
Absent thumb, Hydrocephalus, Bilateral radial aplasia, Hypoplasia of the corpus callosum, Ventric... OMIM:300514
Syndromic Diarrhea
Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m... ORPHA:84064
Desmosterolosis
Rhizomelia, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Aplasia/Hypopla... OMIM:602398
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Cerebral white matter atrophy, Abnormal cortical gyration, Microcephaly, Cerebral hypoplasia, Hyp... ORPHA:79351
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Syndactyly, Clinodactyly, Microcephaly OMIM:618087
Kabuki Syndrome 1
Congenital hip dislocation, Microcephaly, Hydrocephalus, Hip dysplasia, Lateral ventricle dilatat... OMIM:147920
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate ORPHA:2736
Stüve-Wiedemann Syndrome
Respiratory distress, Short stature, Apnea, Asthma, Ectopic thyroid, Intrauterine growth retardat... ORPHA:3206
Tetrasomy 9P
Intrauterine growth retardation, Pulmonary hypoplasia, Pulmonary arterial hypertension ORPHA:3310
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Toriello-Carey Syndrome
Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Hypoplasia of the corpus... ORPHA:3338
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... OMIM:615582
Wolfram Syndrome
Central apnea, Diabetes mellitus, Respiratory insufficiency, Hypogonadism, Delayed puberty, Male ... ORPHA:3463
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele OMIM:607597
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Camptodactyly OMIM:616006
Dpagt1-Cdg
Pulmonary hypoplasia ORPHA:86309
Codas Syndrome
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... OMIM:600373
Cree Mental Retardation Syndrome
Hypospadias, Cleft soft palate OMIM:606851
Postpoliomyelitis Syndrome
Hypoventilation, Respiratory insufficiency, Dysphagia ORPHA:2942
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Hypoplasia of the corpus callo... ORPHA:457284
Glycogen Storage Disease Ii
Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly OMIM:232300
Rh Deficiency Syndrome
Hypoxemia, Intrauterine growth retardation, Tachypnea, Miscarriage ORPHA:71275
Intellectual Developmental Disorder, Autosomal Dominant 57
Short stature, Prominent nasal bridge, Broad nasal tip, Tip-toe gait, High palate, Attention defi... OMIM:618050
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormal cortical gyration, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, S... OMIM:300968
Familial Dysautonomia
Recurrent respiratory infections, Glomerulopathy, Renal insufficiency, Ataxia, Abnormality of the... ORPHA:1764
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Short stature, Apnea OMIM:300373
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Q Fever
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Thrombocytopen... ORPHA:781
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Galloway-Mowat Syndrome 3
Arachnodactyly, Microcephaly, Hip dislocation, Simplified gyral pattern, Cerebral atrophy, Lissen... OMIM:617729
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia ORPHA:3201
Autosomal Dominant Cutis Laxa
Prematurely aged appearance, Unilateral renal agenesis, Postnatal growth retardation, Emphysema, ... ORPHA:90348
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Microphthalmia, Anophthalmia ORPHA:77298
Fanconi Anemia, Complementation Group S
Microphthalmia, Short stature OMIM:617883
Shprintzen-Goldberg Syndrome
Apnea ORPHA:2462
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Camptodactyly of finger, Microcephaly, 4-5 finger syndactyly, Cortical dys... ORPHA:468631
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate ORPHA:166016
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cerebral white matter hypoplasia, Tapered finger, Short thumb, Colpocephaly, Hypoplasia of the co... ORPHA:477993
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Calcaneovalgus deformity, Large basal ganglia, Agenesis of corpus callosum, Long hallux, Long toe... ORPHA:261552
Teebi Hypertelorism Syndrome 2
Clinodactyly of the 5th finger, Syndactyly OMIM:619736
Triploidy
Finger syndactyly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum ORPHA:3376
Tetraamelia Syndrome 2
Bilateral lung agenesis, Hypoplastic pulmonary veins OMIM:618021
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Microcephaly, Talipes equinovarus, Metatarsus valgus, Agenesis of corpus... ORPHA:261236
Kyphoscoliotic Ehlers-Danlos Syndrome
Short stature, Poor wound healing, Bladder diverticulum, High palate, Difficulty walking, Abnorma... ORPHA:536545
Ellis Van Creveld Syndrome
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Emphysema, Neonatal short-limb ... ORPHA:289
Spastic Paraplegia 51, Autosomal Recessive
Cerebral cortical atrophy, Talipes equinovarus, Ventriculomegaly, Microcephaly OMIM:613744
Dubowitz Syndrome
Delayed eruption of teeth, Hyperactivity, Hypospadias, Carious teeth, Velopharyngeal insufficienc... OMIM:223370
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Cavum s... OMIM:274000
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Long palm, Single transverse palmar crease, Microcephaly, Metatarsus ... OMIM:244450
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Kury-Isidor Syndrome
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino... OMIM:619762
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Restrictive Dermopathy
Congenital adrenal hypoplasia, Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:1662
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ... OMIM:302960
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Proteinu... ORPHA:77261
Lethal Acantholytic Erosive Disorder
Natal tooth, Respiratory failure, Cleft palate ORPHA:158687
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Disproportionate short-limb short stature, Pulmonary hypoplasia, Respiratory insufficiency ORPHA:93271
Intellectual Disability-Alacrima-Achalasia Syndrome
Ventriculomegaly ORPHA:289483
Pseudo-Torch Syndrome 1
Cerebral calcification, Microcephaly, Lissencephaly, Pachygyria, Polymicrogyria, Ventriculomegaly OMIM:251290
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Microcephaly, Small hand, Sho... ORPHA:1001
Cog8-Cdg
Progressive microcephaly, Ventriculomegaly ORPHA:95428
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula OMIM:601492
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Kbg Syndrome
Finger clinodactyly, Microcephaly, Single transverse palmar crease, Cutaneous syndactyly ORPHA:2332
Caribbean Parkinsonism
T2 hypointense basal ganglia, Lewy bodies, Midline brain calcifications, Cerebral cortical atroph... ORPHA:97355
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Microcephaly, Absent thumb, Aplasia/Hypoplasia of the distal p... ORPHA:1234
Vacterl/Vater Association
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation ORPHA:887
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Orofaciodigital Syndrome I
Syndactyly, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Porencephalic cyst, Cerebral... OMIM:311200
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly OMIM:208000
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... OMIM:607323
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Recurrent urinary tract infections, Ataxia, Cleft soft palate, Unilateral renal... ORPHA:268261
Prader-Willi Syndrome
Syndactyly, Decreased response to growth hormone stimulation test, Acromicria, Small hand, Narrow... OMIM:176270
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Microcepha... ORPHA:783
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Short 5th finger, Polydactyly, Ectrodactyly, Clinodactyly of the 5th finger ORPHA:397590
Warburg Micro Syndrome 4
Severe postnatal growth retardation, Microphthalmia, Short stature OMIM:615663
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... OMIM:614924
Acute Bilirubin Encephalopathy
Central apnea ORPHA:529799
Chronic Bilirubin Encephalopathy
Central apnea ORPHA:529808
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Congenital Disorder Of Glycosylation, Type If
Cerebral atrophy, Ventriculomegaly, Microcephaly OMIM:609180
Combined Oxidative Phosphorylation Deficiency 39
Microcephaly, Simplified gyral pattern, Cerebral atrophy, Pachygyria, Ventriculomegaly OMIM:618397
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microce... OMIM:618820
Occipital Horn Syndrome
Hiatus hernia, Ureteral obstruction, Growth delay, Hydronephrosis, Bladder diverticulum, High pal... OMIM:304150
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Clinodactyly, Abnormality of the hand, Camptodactyly ORPHA:369891
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia, Short stature ORPHA:1791
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Hypertrophic cardiomyopathy, R... OMIM:276700
Campomelic Dysplasia
Bowing of the long bones, Small abnormally formed scapulae, Hip dislocation, Fibular hypoplasia, ... ORPHA:140
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal... OMIM:232220
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Microcephaly, Abnormality of the elbow, Hip dislocation, Short middle phalanx ... ORPHA:1005
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Bladder diverticulum, Bruising susceptibility, Fragile skin OMIM:617821
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Secondary microcephaly OMIM:619423
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Shortening of all distal phalanges of the fingers, Broad hallux, Ventriculomegaly, Microcephaly OMIM:614749
Neurocutaneous Melanocytosis
Ventriculomegaly, Dandy-Walker malformation ORPHA:2481
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid... OMIM:230000
Apparent Mineralocorticoid Excess
Short stature, Abnormality of circulating cortisol level, Intrauterine growth retardation, Decrea... ORPHA:320
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts, ... OMIM:130650
Ogden Syndrome
Cerebral atrophy, Broad hallux, Ventriculomegaly ORPHA:276432
Fraser Syndrome
Death in infancy, Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2052
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Pachygyria, Polymicrogyria ORPHA:2328
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Periventricular leukomalacia, Broad hallux, Overlapping toe, Abnormality of the hand, Microcephal... ORPHA:508498
Filippi Syndrome
Enlarged epiphyses, Finger syndactyly, Microcephaly, Clinodactyly of the 5th finger, Clinodactyly... ORPHA:3255
Peroxisome Biogenesis Disorder 5A (Zellweger)
Single transverse palmar crease, Metatarsus adductus, Macrogyria, Epiphyseal stippling, Colpoceph... OMIM:614866
Fanconi Anemia, Complementation Group R
Growth delay, Microphthalmia OMIM:617244
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Microphthalmia With Limb Anomalies
Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation OMIM:206920
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Finger syndactyly, Single transverse palmar crease, Microcephaly, Tapered finger, Camptodactyly ORPHA:435938
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly OMIM:226700
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Urinary incontinence, Cardiomegaly OMIM:105210
Occipital Horn Syndrome
Recurrent urinary tract infections, Hiatus hernia, High, narrow palate, Jaundice, Abnormality of ... ORPHA:198
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Kleefstra Syndrome Due To 9Q34 Microdeletion
Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebral cortical hemiatrop... ORPHA:96147
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Eryt... OMIM:612541
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Renal dysplasia, Dental crowding, Cleft hard... OMIM:300990
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Maternal Uniparental Disomy Of Chromosome 6
Slender long bone, Ventriculomegaly ORPHA:96181
Arthrogryposis, Distal, Type 3
Submucous cleft hard palate, High palate, Bifid uvula, Cleft palate OMIM:114300
Hutchinson-Gilford Progeria Syndrome
Delayed eruption of teeth, Prominent superficial blood vessels, Cyanosis, Narrow nasal tip, Narro... ORPHA:740
Galloway-Mowat Syndrome 1
Dandy-Walker malformation, Microcephaly, Pachygyria, Cerebral atrophy, Secondary microcephaly, Ta... OMIM:251300
Fraser Syndrome 1
Abnormal thymus morphology, Pulmonary hypoplasia OMIM:219000
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Choreoacanthocytosis
Caudate atrophy, Abnormal putamen morphology, Lateral ventricle dilatation, Frontal cortical atro... ORPHA:2388
Cri-Du-Chat Syndrome
Syndactyly, Short metacarpal, Single transverse palmar crease, Microcephaly, Metatarsus adductus,... OMIM:123450
Fanconi Anemia, Complementation Group F
Microphthalmia, Short stature, Polyhydramnios, Intrauterine growth retardation OMIM:603467
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Micro Syndrome
Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty ORPHA:2510
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Growth delay, Decreased sensitivity to hypoxemia, Glomeru... OMIM:223900
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1352
Marshall-Smith Syndrome
Slender long bone, Bowing of the long bones, Ventriculomegaly ORPHA:561
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Megalencephaly, Tapered finger, Microcephaly, Hydrocephalus, Talipes equinovarus, Ventriculomegaly OMIM:613603
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Abnormal repetitive mannerisms, Urinary incontinence, Attention deficit hyperactivity disorder, H... ORPHA:98784
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Severe short stature, Decreased response to growth hormone stim... OMIM:616835
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Short stature OMIM:617306
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor... ORPHA:3472
Mosaic Trisomy 9
Spina bifida, Polyhydramnios, Hydrops fetalis, Microphthalmia, Intrauterine growth retardation, O... ORPHA:99776
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Microcephaly, Cerebral atrophy, Short foot, Abnormal cerebral white matter morphology, Hypoplasia... OMIM:615471
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Cubitus valgus, Syndactyly, Hydrocephalus, Congenital hip dislocation OMIM:104350
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... ORPHA:99104
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Renal insufficiency, Cyanosis, Partial anomalous pulmonary venous return, Renal... OMIM:617478
Khan-Khan-Katsanis Syndrome
Postaxial polydactyly, Microcephaly, Colpocephaly, Clinodactyly, Ventriculomegaly OMIM:618460
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Neon... OMIM:252160
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation ORPHA:2399
Mpdu1-Cdg
Decreased response to growth hormone stimulation test, Ventriculomegaly ORPHA:79323
Fabry Disease
Short stature, Dyspnea, Hyperlipidemia, Chronic pulmonary obstruction, Respiratory insufficiency,... ORPHA:324
D-Bifunctional Protein Deficiency
Cerebral dysmyelination, Corpus callosum atrophy, Cortical dysplasia, Split hand, Hammertoe, Cere... OMIM:261515
Tbck-Related Intellectual Disability Syndrome
Broad toe, Decreased response to growth hormone stimulation test, Microcephaly, 2-3 toe syndactyl... ORPHA:488632
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea ORPHA:2299
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly, Nephrocalcinosis ORPHA:53715
Frontonasal Dysplasia 2
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios OMIM:613451
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ... OMIM:610199
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Renal hypoplasia OMIM:612918
Gm1-Gangliosidosis, Type Ii
Limb undergrowth, Cerebral atrophy, Ventriculomegaly, Coxa valga OMIM:230600
Hoyeraal-Hreidarsson Syndrome
Cerebral calcification, Cerebral cortical atrophy, Ventriculomegaly, Microcephaly ORPHA:3322
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly OMIM:614800
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Bilateral microphthalmos, Short stature OMIM:610758
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Patent urachus, Death in childhood OMIM:618252
Luscan-Lumish Syndrome
Advanced ossification of carpal bones, Ventriculomegaly OMIM:616831
Slc39A8-Cdg
Sudden episodic apnea, Short stature, Disproportionate short-limb short stature ORPHA:468699
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Split hand, Split foot... ORPHA:2008
Linear Skin Defects With Multiple Congenital Anomalies 1
Absent septum pellucidum, Single transverse palmar crease, Microcephaly, Hydrocephalus, Colpoceph... OMIM:309801
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bilateral single transverse pa... ORPHA:3103
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... OMIM:311900
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Broad-based gait, Hypospadias, Submucous cleft hard palate, Dysdiadochokinesis, Chordee, Compulsi... OMIM:618891
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Silver-Russell Syndrome 3
Clinodactyly of the 5th finger, Syndactyly, Small hand OMIM:616489
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Acrofacial Dysostosis, Catania Type
Finger syndactyly, Brachydactyly, Microcephaly, Small hand, Short palm, Clinodactyly of the 5th f... ORPHA:1786
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Waddling gait, Bladder diverticulum, Cleft soft palate OMIM:614557
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Ventriculomegaly ORPHA:2031
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis, Esophageal atresia, Submucous cleft hard palate, Trach... OMIM:619227
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Cho... OMIM:611881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Ventriculomegaly, Microcephaly, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Type II l... OMIM:613150
Keutel Syndrome
Sinusitis, Miscarriage, Recurrent bronchitis, Pulmonary artery hypoplasia, Emphysema, Chronic sin... OMIM:245150
Seckel Syndrome 9
Simplified gyral pattern, Talipes equinovarus, Ventriculomegaly, Microcephaly OMIM:616777
Tatton-Brown-Rahman Syndrome
Widely spaced toes, Short toe, Ventriculomegaly ORPHA:404443
Joubert Syndrome 14
Encephalocele, Microphthalmia, Meningocele, Growth delay OMIM:614424
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Microcephaly, Toe clinodactyly, Cl... ORPHA:217346
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Pollakisuria, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Holoprosencephaly 14
Absent septum pellucidum, Microcephaly, Aqueductal stenosis, Hydrocephalus, Partial agenesis of t... OMIM:619895
Blepharocheilodontic Syndrome 2
Cutaneous syndactyly OMIM:617681
Myhre Syndrome
Thin upper lip vermilion, Ataxia, Cleft lip, Respiratory insufficiency, Cleft palate, Respiratory... OMIM:139210
Orofaciodigital Syndrome Type 10
Cleft soft palate, Accessory oral frenulum, Long philtrum ORPHA:2756
Sifrim-Hitz-Weiss Syndrome
Tapered finger, Flat acetabular roof, Short femoral neck, Short clavicles, Ventriculomegaly OMIM:617159
Cardiofaciocutaneous Syndrome 1
Abnormality of the dentition, Open bite, Splenomegaly, Deep philtrum, Submucous cleft hard palate... OMIM:115150
Myhre Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Submucous cleft hard palate, Cleft palate, Gi... ORPHA:2588
Hyperparathyroidism, Neonatal Severe
Dyspnea, Primary hyperparathyroidism, Tachypnea, Elevated circulating parathyroid hormone level OMIM:239200
Diamond-Blackfan Anemia
Hypospadias, Cleft soft palate, Renal agenesis, Cleft lip, Horseshoe kidney, High palate, Adenoca... ORPHA:124
Blepharocheilodontic Syndrome 1
Clinodactyly, Cutaneous syndactyly OMIM:119580
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Dyspnea, Submucou... ORPHA:2636
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... OMIM:608670
White Forelock With Malformations
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:2475
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Hyperventilation ORPHA:522077
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Branchioskeletogenital Syndrome
Penoscrotal hypospadias, Ureteral stenosis, Unilateral cleft palate, Abnormality of the dentition... ORPHA:1299
Costello Syndrome
Renal insufficiency, Pyloric stenosis, Pneumothorax, Thick lower lip vermilion, Respiratory insuf... OMIM:218040
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Absent septum pellucidum, Aplastic clavicle, Abnormal metacarpal morphology, H... ORPHA:2658
Dubowitz Syndrome
Delayed eruption of teeth, Anal stenosis, Hypospadias, Abnormality of the dentition, Malabsorptio... ORPHA:235
Combined Oxidative Phosphorylation Deficiency 55
Single transverse palmar crease, Microcephaly, Talipes equinovarus, Thin corpus callosum, Ventric... OMIM:619743
Mosaic Variegated Aneuploidy Syndrome 1
Hypodysplasia of the corpus callosum, Microcephaly, Hydrocephalus, Cerebral hypoplasia, Short ste... OMIM:257300
Rabin-Pappas Syndrome
Hypoventilation, Retinal telangiectasia, Broad nasal tip, Hydrocephalus, Wide nasal bridge, Trach... OMIM:620155
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
6Q Terminal Deletion Syndrome
Hallux valgus, Abnormal cerebral white matter morphology, Colpocephaly, Hypoplasia of the corpus ... ORPHA:75857
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Oculodentodigital Dysplasia
Finger syndactyly, Toe syndactyly, Cerebral calcification, Camptodactyly of finger, Short hallux,... ORPHA:2710
Fraser Syndrome 3
Short toe, Hydrocephalus, Stillbirth, Cutaneous syndactyly OMIM:617667
Fumarase Deficiency
Microcephaly, Choroid plexus cyst, Cerebral atrophy, Lissencephaly, Polymicrogyria, Agenesis of c... OMIM:606812
Sanjad-Sakati Syndrome
Short foot, Small hand, Ventriculomegaly, Microcephaly ORPHA:2323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Absent septum pellucidum, Type II lissencephaly, Hydrocephalus, Cort... OMIM:615287
Stickler Syndrome, Type I
Submucous cleft hard palate, Bifid uvula, Cleft palate, Pierre-Robin sequence OMIM:108300
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, High, narrow palate, Submucous cleft hard palate, Cleft palate, Bifid ... ORPHA:2780
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Hypoplasia of the radius ORPHA:246
Isolated Biliary Atresia
Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholi... ORPHA:30391
Meacham Syndrome
Aplasia/Hypoplasia of the lungs, Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmo... ORPHA:3097
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly OMIM:149000
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Arachnodactyly, Megalencephaly, Thick corpus callosum, Large hands, ... OMIM:617011
Linear Nevus Sebaceus Syndrome
Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, Dandy-Walk... ORPHA:2612
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Childhood Absence Epilepsy
Punding, Urinary incontinence, Attention deficit hyperactivity disorder, Hyperventilation ORPHA:64280
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... ORPHA:1071
Witteveen-Kolk Syndrome
Toe syndactyly, Overlapping toe, Decreased response to growth hormone stimulation test, Proximal ... OMIM:613406
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly ORPHA:1514
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Short stature ORPHA:1806
Bilateral Polymicrogyria
4-layered lissencephaly, Aplasia/Hypoplasia of the cerebral white matter, Perisylvian polymicrogy... ORPHA:268940
W Syndrome
Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit ORPHA:2804
Menkes Disease
Malabsorption, Bladder diverticulum, Spontaneous hematomas, Prolonged neonatal jaundice, Intraute... ORPHA:565
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Heparan sulfate excretion in urine, Recurr... ORPHA:581
Adams-Oliver Syndrome 1
Periventricular leukomalacia, Toe syndactyly, Microcephaly, Cortical dysplasia, Talipes equinovar... OMIM:100300
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:619135
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Vesicoureteral reflux, Submucous cleft hard palate, Bifid uvula, Renal hypoplasia OMIM:617660
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Microphthalmia OMIM:234050
Joubert Syndrome 5
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:610188
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Developmental And Epileptic Encephalopathy 2
Inability to walk, Anteverted nares, Abnormal repetitive mannerisms, Hyperventilation OMIM:300672
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ataxia, Dental crowding, Impulsivity, Aggressive behavior, Tremor, High, narrow palate, Wide mout... OMIM:300967
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Microcephaly, Narrow palm, Slender... ORPHA:193
Beare-Stevenson Cutis Gyrata Syndrome
Overlapping toe, Hydrocephalus, Agenesis of corpus callosum, Palmoplantar cutis laxa, Limited elb... OMIM:123790
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly ORPHA:1997
Hydranencephaly
Ventriculomegaly, Thalamic edema, Cerebral cortical atrophy, Primary microcephaly, Dysgenesis of ... ORPHA:2177
Zttk Syndrome
Absent gallbladder, Unilateral lung agenesis, Polyuria, Unilateral renal agenesis, Abnormality of... OMIM:617140
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Anterior pituitary hypoplasia, Microcephaly, Polyd... ORPHA:464306
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Distal Deletion 6P
Short foot, Talipes equinovarus, Abnormal epiphysis morphology, Short palm, Clinodactyly of the 5... ORPHA:96125
Kapur-Toriello Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:244300
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Short toe, Hip dislocation, Cerebral atr... ORPHA:2308
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Membranoproliferative glomerulonephritis,... ORPHA:48435
Viss Syndrome
Chronic gastritis, High, narrow palate, High palate, Broad uvula, Emphysema, Bifid uvula, Cleft s... OMIM:619472
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr... ORPHA:1677
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia... OMIM:609049
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Ring Chromosome 12 Syndrome
Syndactyly, Microcephaly, Abnormal 5th finger morphology, Symphalangism of the thumb, Clinodactyly ORPHA:1439
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Microcephaly ORPHA:178303
Orofaciodigital Syndrome Type 1
Finger syndactyly, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postaxial hand polyda... ORPHA:2750
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... ORPHA:2905
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iro... OMIM:619991
X-Linked Dominant Chondrodysplasia Punctata
Severe postnatal growth retardation, Microphthalmia, Short stature ORPHA:35173
Larsen Syndrome
Finger syndactyly, Accessory carpal bones, Abnormal epiphysis morphology, Broad distal phalanx of... ORPHA:503
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus... ORPHA:2215
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Synostosis of carpal bones ORPHA:1323
Mowat-Wilson Syndrome
Dental crowding, Urinary incontinence, Asplenia, Cleft hard palate, Widely spaced teeth, Vesicour... ORPHA:2152
Frontorhiny
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele ORPHA:391474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Dandy-Walker malformation, Agyria, Type II lissencephaly, Microcephaly, Hydrocephalus, Hypoplasia... OMIM:236670
Papillorenal Syndrome
Microphthalmia, Short stature, Edema OMIM:120330
Dermatomyositis
Recurrent respiratory infections, Telangiectasia of the skin, Gastrointestinal stroma tumor, Eryt... ORPHA:221
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal thymus morphology, Cardiomegaly ORPHA:2463
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Intrauterine growth retardation, Oligohydramnios ORPHA:364577
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperventilation OMIM:253270
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Short femur, Metaphyseal spurs, Femoral bowing, Short long bone, Fra... OMIM:618188
Genitopatellar Syndrome
Hip contracture, Congenital hip dislocation, Microcephaly, Patellar aplasia, Inferior pubic ramus... OMIM:606170
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Intestinal malrotation, Pulmonary artery hypoplasia, Total anomalous pulmonary venous r... OMIM:616749
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Short stature OMIM:618571
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:2714
Acrocallosal Syndrome
Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifid distal pha... OMIM:200990
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Rhizomelia, Microcephaly, Phalangeal cone-shaped epiphyses, Postaxial hand polydactyly, Short toe... OMIM:266920
Trisomy 18
Short stature, Spina bifida, Anencephaly, Growth delay, Microphthalmia, Intrauterine growth retar... ORPHA:3380
Kinsship Syndrome
Single transverse palmar crease, Coxa valga, Microcephaly, Hip dislocation, Fibular hypoplasia, P... OMIM:619297
Neonatal Marfan Syndrome
Neonatal respiratory distress, Emphysema, Hypoxemia ORPHA:284979
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... ORPHA:570
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Microphthalmia, Lenz Type
Finger syndactyly, Camptodactyly of finger, Microcephaly, Aplasia/Hypoplasia of the corpus callos... ORPHA:568
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,... ORPHA:567983
Xeroderma Pigmentosum, Complementation Group B
Basal ganglia calcification, Ventriculomegaly, Microcephaly OMIM:610651
Cerebellar-Facial-Dental Syndrome
Single transverse palmar crease, Tapered finger, Microcephaly, Slender long bone, Hypoplasia of t... ORPHA:444072
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip OMIM:619122
Cerebrooculonasal Syndrome
Postaxial polydactyly, Hydrocephalus, Postaxial hand polydactyly, Hypoplasia of the corpus callos... OMIM:605627
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia OMIM:153670
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Warburg Micro Syndrome 2
Postnatal growth retardation, Microphthalmia OMIM:614225
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Left ventricula... OMIM:245600
Aymé-Gripp Syndrome
Rocker bottom foot, Tapered finger, Hydrocephalus, Radioulnar synostosis, Reduced arm span, Hypop... ORPHA:1272
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Mic... OMIM:272950
Refsum Disease
Microphthalmia ORPHA:773
Hamamy Syndrome
Long toe, Syndactyly, Down-sloping shoulders, Tapered finger, Long fingers, Hip dysplasia, Clinod... OMIM:611174
Scorpion Envenomation
Abnormal nasal mucus secretion, Tachypnea, Pulmonary edema ORPHA:466677
Vascular Ehlers-Danlos Syndrome
Hypospadias, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, High, ... ORPHA:286
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Hypertrophic cardiomyopathy, Enl... OMIM:252500
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Microcephaly, Hypoplastic anterior commissure, Hip dysplasia, Hypoplasia of the corpu... OMIM:616975
Diethylstilbestrol Syndrome
Central apnea ORPHA:1916
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Joubert Syndrome 8
Hyperventilation, Occipital encephalocele, Ataxia, Prolonged neonatal jaundice OMIM:612291
Holoprosencephaly
Diabetes mellitus, Panhypopituitarism, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs... ORPHA:2162
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Abnormal pancreas morphology, Ves... ORPHA:116
Beta-Ketothiolase Deficiency
Tachypnea, Cough ORPHA:134
Blepharonasofacial Malformation Syndrome
Finger syndactyly ORPHA:1252
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Overlapping toe, Proximal placement of thumb, Tapered finger, Microcephaly, Hypoplasia of the cor... ORPHA:487796
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... OMIM:610655
Limb-Mammary Syndrome
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula ORPHA:69085
Pyruvate Carboxylase Deficiency
Cerebral white matter atrophy, Periventricular cysts, Subependymal cysts, Increased caudate lacta... ORPHA:3008
X Small Rings
Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous syndactyly,... ORPHA:96201
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Severe short stature, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion ORPHA:2526
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Single transverse palmar crease, Wide distal femoral metaphysis,... OMIM:269150
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... OMIM:607932
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Hypoplasia of the corpus callosum, Camptodactyly, Absent palmar crease OMIM:614230
Coffin-Lowry Syndrome
Wide nose, Cutis marmorata, Short stature, Thick nasal alae, Anteverted nares, Rectal prolapse, N... OMIM:303600
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Abnormal penis morphology, Hypospadias, Abnormal dental enamel morphology, ... ORPHA:2556
Distal Deletion 3P
Clinodactyly of the 5th finger, Postaxial hand polydactyly, Ventriculomegaly, Microcephaly ORPHA:1620
De Sanctis-Cacchione Syndrome
Microcephaly, Basal ganglia calcification, Cerebral atrophy, Bilateral coxa valga, Ventriculomegaly OMIM:278800
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Long Qt Syndrome 8
Syndactyly OMIM:618447
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Small hand, Short 4th metacarpal ORPHA:1787
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Cleft soft palate, Renal hypoplasia, Downturned corners of mouth, Micrope... OMIM:619321
Skin Creases, Congenital Symmetric Circumferential, 2
Tapered finger, Microcephaly, Long fingers, 2-3 toe syndactyly, Hypoplasia of the corpus callosum... OMIM:616734
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Tapered finger, Microcephaly, Short toe, Short foot, Posterior pituitary hypoplasia, Hypoplasia o... ORPHA:464311
Wiedemann-Rautenstrauch Syndrome
Tremor, Wide penis, Downturned corners of mouth, Short philtrum, Vesicoureteral reflux, Premature... ORPHA:3455
Hyperlipoproteinemia, Type Id
Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis OMIM:615947
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Adactyly, Split hand, Aplasia/Hypoplasia of fingers, Upper limb... ORPHA:989
Primary Hyperoxaluria
Hyperoxaluria, Cutis marmorata, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease... ORPHA:416
Focal Dermal Hypoplasia
Aplasia/Hypoplasia of the lungs, Abnormality of the pulmonary vasculature ORPHA:2092
Pili Torti-Onychodysplasia Syndrome
Palmoplantar keratoderma, Cutaneous syndactyly ORPHA:2890
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly ORPHA:1433
Eisenmenger Syndrome
Respiratory distress, Renal insufficiency, Cyanosis, Increased pulmonary vascular resistance, Whe... ORPHA:97214
Sclerosteosis 1
Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C... OMIM:269500
Kbg Syndrome
Syndactyly, Single transverse palmar crease, Microcephaly, Cutaneous syndactyly, Radial deviation... OMIM:148050
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Polymicrogyria OMIM:614520
Serotonin Syndrome
Tachypnea ORPHA:43116
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal cortical gyration, Preaxial hand polydactyly, P... ORPHA:2211
Sarcoidosis
Abnormal nasal mucosa morphology, Hyperthyroidism, Diabetes insipidus, Abnormal pleura morphology... ORPHA:797
Pallister-Killian Syndrome
Rhizomelia, Mesomelic/rhizomelic limb shortening, Growth delay, Stillbirth, Apneic episodes in in... OMIM:601803
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard... OMIM:206900
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Rhizomelia OMIM:615877
Holoprosencephaly 13, X-Linked
Colpocephaly, Microcephaly, Agenesis of corpus callosum, Septo-optic dysplasia OMIM:301043
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia, Short stature OMIM:257850
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosu... OMIM:619418
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Triphalangeal t... ORPHA:794
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Hiatus hernia, Rectal prolapse, Bladder divertic... ORPHA:287
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
1Q21.1 Microdeletion Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:250989
Bardet-Biedl Syndrome 1
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... OMIM:209900
Wolf-Hirschhorn Syndrome
Pseudoepiphyses of the metacarpals, Single transverse palmar crease, Short hallux, Microcephaly, ... OMIM:194190
Fanconi Anemia
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Microceph... ORPHA:84
Monosomy 9Q22.3
Palmar pits, Hydrocephalus, Polydactyly, Calcification of falx cerebri, Ventriculomegaly ORPHA:77301
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Clinodactyly of the 5th finger, Syndactyly, Broad palm OMIM:618505
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Overlapping toe, Tapered finger, Microcephaly, Small hand, Cerebral atrophy, Short foot, Hypoplas... OMIM:309590
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Abnormality of t... ORPHA:2911
Branchiogenic-Deafness Syndrome
Submucous cleft hard palate OMIM:609166
Encephalocraniocutaneous Lipomatosis
Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,... ORPHA:2396
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Abnormal m... ORPHA:284160
Townes-Brocks Syndrome 1
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Microcephaly, Pr... OMIM:107480
Aicardi Syndrome
Microcephaly, Partial agenesis of the corpus callosum, Small hand, Hip dysplasia, Pachygyria, Pol... ORPHA:50
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Short stature OMIM:601675
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Meier-Gorlin Syndrome 5
Micropenis, Submucous cleft hard palate, Thick vermilion border, Long philtrum OMIM:613805
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Thin upper lip vermilion, Hydroureter, Unilateral renal agenesis, Deep philtrum, Submucous cleft ... OMIM:619194
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Cerebral atrophy, Clinodactyly, Ventriculomegaly OMIM:618164
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Arachnodactyly, Megalencephaly, Diffuse white matter abnormalities, ... ORPHA:457359
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Hartsfield Syndrome
Syndactyly, Microcephaly, Gonadotropin deficiency, Ectrodactyly, Agenesis of corpus callosum OMIM:615465
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Short thumb, Hypoplasia of the ra... OMIM:263750
Joubert Syndrome 17
Abnormal renal morphology, Ataxia, Hyperventilation OMIM:614615
Autosomal Recessive Robinow Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas... ORPHA:1507
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... ORPHA:75565
Simpson-Golabi-Behmel Syndrome
Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of finger, Short 2nd... ORPHA:373
Cardiac Valvular Dysplasia 2
Central cyanosis, Pulmonary artery dilatation OMIM:620067
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent ... ORPHA:2250
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Microphthalmia OMIM:253800
Fanconi Anemia, Complementation Group C
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:227645
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta OMIM:612109
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenomegaly, Chronic lymphatic leukemi... ORPHA:51
Mycophenolate Mofetil Embryopathy
Microphthalmia, Hydrops fetalis ORPHA:268249
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Wrist swelling, Hip dislocation, Periventricular cysts, Genu valgum, Fin... OMIM:309000
Pseudotrisomy 13 Syndrome
Encephalocele, Microphthalmia OMIM:264480
Peters-Plus Syndrome
Syndactyly, Short metacarpal, Rhizomelia, Single transverse palmar crease, Limited elbow movement... OMIM:261540
Malignant Hyperthermia Of Anesthesia
Tachypnea, Hypercapnia ORPHA:423
Ring Chromosome 7 Syndrome
Single transverse palmar crease, Microcephaly, Small hand, Genu valgum, Short 5th finger, Cerebra... ORPHA:1449
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Death in infancy, Tachypnea, Pulmonary edema OMIM:220111
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Cutis marmorata, Calcium oxalate nephrolithiasis, Nephrocalci... OMIM:259900
Otopalatodigital Syndrome, Type Ii
Hypospadias, Cleft palate, Respiratory insufficiency, Respiratory failure, Stillbirth, Narrow mou... OMIM:304120
Cardiofaciocutaneous Syndrome
Submucous cleft hard palate, High palate, Hydronephrosis, Long philtrum ORPHA:1340
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Microphthalmia, Umbilical hernia, Polyhydramnios ORPHA:2166
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Mesomelia, Camptodactyly, Clinodactyly, Short phalanx of finger, Broad thumb, Brachyd... OMIM:616894
Rubinstein-Taybi Syndrome 1
Syndactyly, Broad hallux phalanx, Broad hallux, Single transverse palmar crease, Radial deviation... OMIM:180849
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... OMIM:263650
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Apnea ORPHA:285
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Microphthalmia OMIM:601812
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Severe short stature, Rhizomelia ORPHA:85167
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm OMIM:614437
Cat Eye Syndrome
Microphthalmia, Umbilical hernia OMIM:115470
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea OMIM:615751
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Camptodactyly of finger, Microcephaly ORPHA:2311
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Treacher Collins Syndrome 1
Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth OMIM:154500
Cousin Syndrome
Hydranencephaly, Microphthalmia, Disproportionate short stature, Rhizomelia OMIM:260660
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Decreased response to growth ... ORPHA:1896
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Short stature, Unilateral microphthalmos OMIM:618874
Gabriele-De Vries Syndrome
Hallux valgus, Sydney crease, Decreased response to growth hormone stimulation test, Sandal gap, ... ORPHA:506358
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Cutaneous syndactyly, Talipes equi... OMIM:620029
Wolf-Hirschhorn Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Intrauterine growth retardation ORPHA:280
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Short metatarsal, Palmoplantar hyper... OMIM:216340
Fanconi Anemia, Complementation Group L
Growth delay, Microphthalmia, Intrauterine growth retardation OMIM:614083
Fanconi Anemia, Complementation Group E
Microphthalmia, Short stature OMIM:600901
Grange Syndrome
Finger clinodactyly, Syndactyly, Brachydactyly OMIM:602531
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Cerebral white matter atrophy, Irregu... ORPHA:99646
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Severe short stature, Short stature OMIM:127000
Vater/Vacterl Association
Renal dysplasia, Occipital encephalocele, Abnormal nasopharynx morphology, Hypospadias, Choanal a... OMIM:192350
Jacobsen Syndrome
Microphthalmia, Macular hypoplasia, Intrauterine growth retardation OMIM:147791
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Abnormal hip bone morpholo... ORPHA:261318
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Incontinentia Pigmenti
Microphthalmia, Spina bifida occulta, Umbilical hernia ORPHA:464
Bardet-Biedl Syndrome
Finger syndactyly, Postaxial hand polydactyly ORPHA:110
Meckel Syndrome
Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia, Oligohy... ORPHA:564
Momo Syndrome
Bilateral microphthalmos, Short stature ORPHA:2563
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Palmoplantar hyperkeratosis, Bilateral single transverse palma... ORPHA:3253
Fanconi Anemia, Complementation Group A
Microphthalmia, Short stature OMIM:227650
Cardiac Valvular Dysplasia 1
Cyanosis, Hydroureter, Urethral diverticulum, Pulmonary artery atresia, Hydronephrosis OMIM:212093
Meester-Loeys Syndrome
Arachnodactyly, Broad distal phalanx of finger, Camptodactyly, Ventriculomegaly, Brachydactyly OMIM:300989
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Holoprosencephaly 3
Ventriculomegaly, Microcephaly OMIM:142945
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Down-sloping shoulders, Metatarsus adductus, Broad palm, Short foot, Camptodactyly, C... OMIM:227330
Roberts-Sc Phocomelia Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:268300
Hallermann-Streiff Syndrome
Microphthalmia, Proportionate short stature, Spina bifida OMIM:234100
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:99889
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Dilated fourth ventricle, Hallux valgus, Congenital hip dislocation, Overlapping toe, Abnormal co... ORPHA:480880
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hallux valgus, Anterior pituitary hypoplasia, Dysplastic corpus callosum, Synostosis involving th... ORPHA:466791
Degcags Syndrome
Syndactyly, Ventriculomegaly, Toe syndactyly, Microcephaly, Short thumb, Preaxial hand polydactyl... OMIM:619488
Arima Syndrome
Growth delay, Dyspnea, Tachypnea OMIM:243910
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Postnatal growth retardation, Bilateral microphthalmos, Growth delay, Intrauterine... ORPHA:93325
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Short stature OMIM:201180
Monosomy 13Q14
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1587
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia, Short stature OMIM:308300
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Microcephaly, Metatarsus adductus, Osteopathia striata, Pineal cyst, Hip dysplasia, Hypoplasia of... ORPHA:513456
White-Kernohan Syndrome
Dysplastic corpus callosum, Hip dysplasia OMIM:619426
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia OMIM:243605
Microphthalmia, Syndromic 1
Growth delay, Pulmonary hypoplasia OMIM:309800
Rapp-Hodgkin Syndrome
Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma OMIM:129400
Mckusick-Kaufman Syndrome
Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn... ORPHA:2473
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Split hand ORPHA:1300
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Cornelia De Lange Syndrome
Ventriculomegaly, Toe syndactyly, Abnormal morphology of ulna, Micromelia, Proximal placement of ... ORPHA:199
Coffin-Siris Syndrome 12
Elevated hepatic transaminase, Hypospadias, Celiac disease, Velopharyngeal insufficiency, Submuco... OMIM:619325
Cockayne Syndrome B
Severe short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intra... OMIM:133540
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Short stature, Polyhydramnios, Microphthalmia, Intrauterine growth retardation OMIM:620186
Bloom Syndrome
Clinodactyly of the 5th finger, Syndactyly, Hand polydactyly, Microcephaly OMIM:210900
Basal Cell Nevus Syndrome 1
Microphthalmia, Spina bifida OMIM:109400
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Microcytic anemia, Cardiomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia OMIM:256040
Loeys-Dietz Syndrome 2
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Hydrocephalus, Absent dis... OMIM:610168
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Severe postnatal growth retardation, Intrauterine growth retardation OMIM:620005
Monosomy 22
Finger syndactyly, Single transverse palmar crease, Microcephaly, Clubbing, Clinodactyly of the 5... ORPHA:96123
Ctcf-Related Neurodevelopmental Disorder
Broad hallux phalanx, Sandal gap, Single transverse palmar crease, Microcephaly, 2-3 toe syndacty... ORPHA:363611
Isolated Arrhinia
Microphthalmia ORPHA:1134
Acute Liver Failure
Acute kidney injury, Ataxia, Jaundice, Abnormal respiratory system physiology, Agitation, Hypocap... ORPHA:90062
Adult Syndrome
Finger syndactyly, Toe syndactyly, Split foot ORPHA:978
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Charge Syndrome
Anophthalmia, Short stature, Polyhydramnios, Postnatal growth retardation, Delayed puberty, Micro... ORPHA:138
Craniofacial Microsomia 1
Pulmonary hypoplasia OMIM:164210
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Atelis Syndrome 2
Microphthalmia OMIM:620185
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia OMIM:610829
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea ORPHA:415
Peters Plus Syndrome
Toe syndactyly, Rhizomelia, Micromelia, Microcephaly, Hydrocephalus, Short toe, Aplasia/Hypoplasi... ORPHA:709
Autosomal Dominant Robinow Syndrome
Finger syndactyly, Camptodactyly of finger, Micromelia, Coxa valga, Elbow dislocation, Avascular ... ORPHA:3107
Treacher-Collins Syndrome
Encephalocele, Microphthalmia, Branchial fistula ORPHA:861
Microgastria-Limb Reduction Defect Syndrome
Growth delay, Microphthalmia, Anophthalmia ORPHA:2538
Lacrimoauriculodentodigital Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... ORPHA:2363
Trichothiodystrophy
Umbilical hernia, Bilateral microphthalmos, Intrauterine growth retardation ORPHA:33364
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Short stature OMIM:268400
Fanconi Anemia, Complementation Group D2
Microphthalmia, Short stature OMIM:227646
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Hepatic calcifica... ORPHA:51608
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Hypospadias, Persistence of primary teeth, Supernumerary tooth, Submuc... OMIM:300166
Hallermann-Streiff Syndrome
Microphthalmia, Proportionate short stature ORPHA:2108
Tolchin-Le Caignec Syndrome
Submucous cleft hard palate, High palate, Attention deficit hyperactivity disorder, Narrow mouth OMIM:618971
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Type II lissencephaly, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Pa... OMIM:253280
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Neoplasm of the tongue, Recurrent respiratory infections, Submucous cleft hard palate, Bifid uvula ORPHA:3047
Exercise-Induced Malignant Hyperthermia
Tachypnea, Crackles, Hypocapnia ORPHA:466650
Cranioectodermal Dysplasia 2
Syndactyly, Rhizomelia, Postaxial hand polydactyly, Polydactyly, Mesomelia, Clinodactyly, Brachyd... OMIM:613610
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi, Short stature OMIM:259770
Constricting Bands, Congenital
Syndactyly, Hand polydactyly, Talipes equinovarus OMIM:217100
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, Hypospadias, Abnormalit... OMIM:235730
Holoprosencephaly 7
Occipital meningocele, Microphthalmia, Bilateral microphthalmos OMIM:610828
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Down-sloping shoulders, Short foot, Clinodactyly of the 5th finger, Brachydactyly ORPHA:1974
Doors Syndrome
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Microcephaly, Abnormal toe morphology, Abnorm... ORPHA:79500
Robinow Syndrome
Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Mesomelic arm shortening, Radioulna... ORPHA:97360
Mend Syndrome
Microphthalmia, Short stature ORPHA:401973
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Umbilical hernia OMIM:613884
Steinfeld Syndrome
Microphthalmia OMIM:184705
Hydrolethalus Syndrome 1
Microphthalmia, Anencephaly, Polyhydramnios, Intrauterine growth retardation OMIM:236680
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Cockayne Syndrome Type 3
Microphthalmia, Mild postnatal growth retardation ORPHA:90324
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Cockayne Syndrome
Severe short stature, Postnatal growth retardation, Growth delay, Delayed puberty, Microphthalmia ORPHA:191
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Palmoplantar hyperkeratosis, Abnormal hip bone morpho... ORPHA:2907
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature ORPHA:1521
Neuroocular Syndrome
Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Torus... OMIM:619539
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Toe syndactyly, Abnormality of the upper limb, Short lower limbs ORPHA:1556
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia ORPHA:306542
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Focal Dermal Hypoplasia
Anophthalmia, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina bifida occulta OMIM:305600
Trichorhinophalangeal Syndrome, Type Ii
Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Coxa valga, Avas... OMIM:150230
Monosomy 9P
Microphthalmia ORPHA:261112
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Cyanosis ORPHA:216694
8Q24.3 Microdeletion Syndrome
Branchial cyst, Infancy onset short-trunk short stature, Short stature, Optic nerve hypoplasia, B... ORPHA:508488
African Trypanosomiasis
Miscarriage, Abnormality of the endocrine system, Abnormality of renin-angiotensin system, Abnorm... ORPHA:3385
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Genu varum ORPHA:1969
Charge Syndrome
Anophthalmia, Polyhydramnios, Postnatal growth retardation, Unilateral microphthalmos, Umbilical ... OMIM:214800
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Renpenning Syndrome 1
Microphthalmia, Short stature OMIM:309500
Hennekam Syndrome
Finger syndactyly, Pachygyria, Camptodactyly of finger ORPHA:2136
Pallister-Hall Syndrome
Short stature, Oligohydramnios, Umbilical hernia, Microphthalmia, Intrauterine growth retardation ORPHA:672
Holoprosencephaly 1
Microphthalmia, Short stature OMIM:236100
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Palmoplantar keratoderma, Short 4th metacarpal, Short... ORPHA:2908
Holoprosencephaly 2
Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary median maxillary central in... OMIM:157170
Proteus Syndrome
Hallux valgus, Finger syndactyly, Macrodactyly, Metatarsus valgus, Hip dislocation, Abnormal fing... ORPHA:744
Specc1L-Related Hypertelorism Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Short toe, Brachydactyly ORPHA:1519
Branchiooculofacial Syndrome
Anophthalmia, Postnatal growth retardation, Branchial anomaly, Microphthalmia, Intrauterine growt... OMIM:113620
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... OMIM:182250
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens, Delayed puberty ORPHA:649
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Sandal gap, Microcephaly, Long fingers, Cutaneous syndactyly, Toe clinodactyly OMIM:620330
Townes-Brocks Syndrome
Microphthalmia, Short stature, Delayed puberty ORPHA:857
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dhcr7

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dhcr7.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Generation and validation of a conditional knockout mouse model for the study of the Smith-Lemli-Opitz syndrome. Journal of lipid research (November 2020) Dhcr7tm1a(EUCOMM)Hmgu PMC7890206

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Dhcr7em1(IMPC)Mbp Exon Deletion Mice, Tissue
Dhcr7tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dhcr7tm44428(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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