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Gene: Dhcr7 MGI:1298378

Gene Summary

Name:

7-dehydrocholesterol reductase

Synonyms:

N/A

Order Alleles

IMPC Data Collections

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	Allele	Zyg	Life Stage
preweaning lethality, complete penetrance	Dhcr7^em1(IMPC)Mbp	HOM	Early adult
abnormal placenta morphology	Dhcr7^em1(IMPC)Mbp	HET	E15.5
edema	Dhcr7^em1(IMPC)Mbp	HOM	E15.5
small kidney	Dhcr7^em1(IMPC)Mbp	HET	Early adult
abnormal spleen morphology	Dhcr7^em1(IMPC)Mbp	HET	Early adult
microphthalmia	Dhcr7^em1(IMPC)Mbp	HOM	E15.5
abnormal blood vessel morphology	Dhcr7^em1(IMPC)Mbp	HOM	E15.5
microphthalmia	Dhcr7^em1(IMPC)Mbp	HET	E15.5
enlarged spleen	Dhcr7^em1(IMPC)Mbp	HET	Early adult
abnormal heart morphology	Dhcr7^em1(IMPC)Mbp	HET	Early adult
abnormal kidney morphology	Dhcr7^em1(IMPC)Mbp	HET	Early adult
embryonic growth retardation	Dhcr7^em1(IMPC)Mbp	HOM	E15.5
enlarged heart	Dhcr7^em1(IMPC)Mbp	HET	Early adult
abnormal placenta vasculature	Dhcr7^em1(IMPC)Mbp	HET	E15.5

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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

Images

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.

Human diseases associated with Dhcr7 (2 diseases)
Human diseases predicted to be associated with Dhcr7 (2339 diseases)

The table below shows human diseases associated to Dhcr7 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Smith-Lemli-Opitz Syndrome		Precocious puberty, Abnormal lung lobation, Hypocholesterolemia, Intrauterine growth retardation,...	OMIM:270400
Smith-Lemli-Opitz Syndrome		Rhizomelia, Abnormal lung lobation, Intrauterine growth retardation, Short stature, Growth delay,...	ORPHA:818

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

Disease	Matching phenotypes	Source
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Polymicrogyria, Hydrocephalus, Postaxial hand polydactyly, Thick corpus callosu...	OMIM:615938
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Leukoencephalopathy With Vanishing White Matter 5	Dilated third ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation,...	OMIM:620315
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
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Synpolydactyly 1	Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial...	OMIM:186000
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Small cerebral cortex, Ventriculomegaly, Abnormal cerebral cortex morphology, Microcephaly, Abnor...	ORPHA:329228
Pontocerebellar Hypoplasia, Type 12	Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Overlapping fingers, Talipes...	OMIM:618266
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Ethanolaminosis	Cardiomegaly	OMIM:227150
Porencephaly	Ventriculomegaly	ORPHA:2940
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hypoplasia of the corpus callosum, Hydrocep...	OMIM:615937
Chudley-Mccullough Syndrome	Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, ...	OMIM:604213
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Ventriculomegaly, Clinodactyly, Dysplastic corpus callosum, Abnormal cerebral white matter morpho...	ORPHA:500166
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo...	OMIM:174500
Cerebral Palsy, Spastic Quadriplegic, 2	Ventriculomegaly	OMIM:612900
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
Band Heterotopia	Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr...	OMIM:600348
Ventriculomegaly And Arthrogryposis	Hand clenching, Ventriculomegaly, Agenesis of corpus callosum, Talipes equinovarus, Ulnar deviati...	OMIM:619501
Masa Syndrome	Hand clenching, Ventriculomegaly, Camptodactyly of finger, Agenesis of corpus callosum, Clinodact...	ORPHA:2466
Bronchopulmonary Dysplasia	Atelectasis, Emphysema, Respiratory distress, Central apnea, Hyperoxemia, Dyspnea, Abnormal lung ...	ORPHA:70589
Cortical Dysplasia, Complex, With Other Brain Malformations 5	Ventriculomegaly, Reduced cerebral white matter volume, Hypoplasia of the corpus callosum, Cortic...	OMIM:615763
Syndactyly, Type Iii	Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4...	OMIM:186100
Syndactyly Type 1	2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ...	ORPHA:93402
Polymicrogyria Due To Tubb2B Mutation	Abnormal corpus callosum morphology, Lateral ventricle dilatation, Dysgenesis of the basal gangli...	ORPHA:300573
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation, Short palm, Polymicrogyria	OMIM:300982
Martsolf Syndrome 2	Lateral ventricle dilatation, Camptodactyly of finger, Overlapping toe, Hypoplasia of the corpus ...	OMIM:619420
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Neonatal death, Tachypnea, Paraseptal emphysema, Reticular pattern on pulmo...	OMIM:610921
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Symphalangism With Multiple Anomalies Of Hands And Feet	Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda...	ORPHA:3246
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia	OMIM:619887
Unilateral Hemispheric Polymicrogyria	Cortical dysplasia, Cerebral hypoplasia, Thick cerebral cortex, Lateral ventricle dilatation	ORPHA:101071
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Lipedema	Edema	OMIM:614103
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int...	OMIM:265120
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Ventriculomegaly, Lateral ventricle dilatation, Dilated fourth ventricle, Abnormal periventricula...	OMIM:613443
Microcephaly 19, Primary, Autosomal Recessive	Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum, Simplified gyral pattern	OMIM:617800
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Talipes equinovarus, Short corpus callosum, Lateral ventricle dilatation	OMIM:619972
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Microceph...	ORPHA:3207
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Microlissencephaly	Lissencephaly, Cerebral cortical atrophy, Ventriculomegaly, Polymicrogyria, Neuronal loss in the ...	ORPHA:1083
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Ventriculomegaly, Cerebral atrophy, Polymicrogyria, Hypoplasia of the corpus callosum, Microcepha...	OMIM:618730
Lethal Congenital Contracture Syndrome 11	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:617194
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Cyanosis, Choking episodes, Aspiration, Impaired oropharyngeal ...	ORPHA:2004
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Postnatal growth retardation, Intrauterine growth retardation, Pulmonary hy...	OMIM:616733
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Ventriculomegaly, Primary microcephaly, Agenesis of corpus callosum	ORPHA:171703
Lissencephaly 1	Ventriculomegaly, Secondary microcephaly, Abnormal cerebral white matter morphology, Pachygyria, ...	OMIM:607432
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Death in childhood, Death in infancy, Pulmonary hypoplasia	OMIM:614096
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Intrauterine growth retardation, Apnea, Cyanosis, Tachypnea...	ORPHA:2257
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia, Pulmonary hypoplasia	ORPHA:2140
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Triphalangeal Thumb With Polysyndactyly	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po...	OMIM:190605
Lissencephaly 4	Agenesis of corpus callosum, Colpocephaly, Primary microcephaly, Lissencephaly, Simplified gyral ...	OMIM:614019
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Bowen-Conradi Syndrome	Abnormal lung lobation, Death in infancy, Severe postnatal growth retardation, Severe intrauterin...	ORPHA:1270
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Neonatal respiratory distress, Falls, Megacystis, Abnormal eating behavior, ...	ORPHA:209905
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:619003
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hallux Varus And Preaxial Polysyndactyly	Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly	OMIM:234280
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin...	ORPHA:1891
Gombo Syndrome	Delayed puberty, Microphthalmia	OMIM:233270
Brachydactyly Type A7	Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas...	ORPHA:93397
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormality of the urinary system, Aspiration pneumonia, Inability to walk, Tremor, Elevated circ...	ORPHA:90117
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Adrenal hypoplasia, Pulmonary hypoplasia	OMIM:613124
Brachydactyly, Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ...	OMIM:112600
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Leukoencephalopathy, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Age...	OMIM:619244
Polymicrogyria, Bilateral Temporooccipital	Ventriculomegaly	OMIM:612691
Respiratory Distress Syndrome In Premature Infants	Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea	OMIM:267450
Spastic Paraplegia 88, Autosomal Dominant	Ventriculomegaly, Thin corpus callosum	OMIM:620106
Leukoencephalopathy, Progressive, With Ovarian Failure	Leukoencephalopathy, Progressive leukoencephalopathy, Lateral ventricle dilatation, Periventricul...	OMIM:615889
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Lissencephaly, Ventriculomegaly, Thick cerebral cortex, Hypoplasia of the corpus callosum	OMIM:618677
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Short stature, Recurrent respiratory infections, Central apnea	ORPHA:320385
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Cerebral cortical atrophy, Lateral ventricle dilatation, Periventricular cysts, Microcephaly, Abn...	OMIM:617668
Microcephaly, Seizures, And Developmental Delay	Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly, Progressive microcephaly, Simp...	OMIM:613402
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type II pneumocyte ...	OMIM:263000
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Pulmonary hypoplasia, Abnormal lung lobation	ORPHA:2631
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Elevated circulating creatine kinase concentration, Loss of ambulation, Death in adolescence, Res...	OMIM:300717
Hemiparkinsonism-Hemiatrophy Syndrome	Cerebral cortical hemiatrophy, Hemiatrophy, Lateral ventricle dilatation	ORPHA:306669
Microcephaly 5, Primary, Autosomal Recessive	Small cerebral cortex, Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus ca...	OMIM:608716
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Tachypnea, Dyspnea, Hemosiderin...	OMIM:616414
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal corpus callosum morphology, Ventriculomegaly, Microcephaly, Hydrocephalus, Cortical dysp...	OMIM:618709
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	OMIM:186200
Perching Syndrome	Depressed nasal bridge, High palate, Dysphagia, Cyanosis	OMIM:617055
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Difficulty walking, Inability to walk, Abnormal circulating enzyme concentration or activity, Tre...	ORPHA:2590
Spinocerebellar Ataxia Type 8	Ataxia, Limb ataxia, Gait ataxia, Aspiration, Unsteady gait, Urinary incontinence, Bradykinesia, ...	ORPHA:98760
Opitz Gbbb Syndrome	Wide nasal bridge, Hypospadias, Rectourethral fistula, Anteverted nares, Vesicoureteral reflux, A...	OMIM:300000
Alg2-Cdg	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Hyperintensity of ...	ORPHA:79326
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Hand clenching, Congenital hip dislocation, Ventriculomegaly, Cerebral cortical atrophy, Lateral ...	OMIM:618291
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Ventriculomegaly With Defects Of The Radius And Kidney	Ventriculomegaly, Absent thumb, Lateral ventricle dilatation, Bowed forearm bones, Hydrocephalus,...	OMIM:602200
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:253300
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Diffuse white matter abnormalities, Ventriculomegaly, Cerebral atrophy, Diffuse swelling of cereb...	OMIM:613925
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Pachygyria, Ventriculomegaly, Agyria, Enlarged sylvian cistern	ORPHA:1084
Cerebrooculofacioskeletal Syndrome 3	Intrauterine growth retardation, Edema, Microphthalmia	OMIM:616570
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia	OMIM:616531
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited...	ORPHA:3269
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy, Polymic...	ORPHA:79243
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:616816
Basel-Vanagaite-Smirin-Yosef Syndrome	Deviation of the 2nd finger, Dilated third ventricle, Finger syndactyly, Clinodactyly, Lateral ve...	ORPHA:464738
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Elevated circulating aspartate aminotransferase concentration, Renal insufficiency...	OMIM:619386
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly, Progressive microcephaly, Bila...	OMIM:616486
Microphthalmia, Syndromic 12	Neonatal death, Pulmonary hypoplasia	OMIM:615524
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
Nphp3-Related Meckel-Like Syndrome	Pulmonary hypoplasia	ORPHA:3032
Larsen-Like Syndrome, Lethal Type	Neonatal death, Pulmonary hypoplasia	OMIM:245650
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi...	ORPHA:922
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Short stature, Pulmonary hypoplasia	OMIM:618174
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Abnormal corpus callosum morphology, Ventriculomegaly, Cone-shaped epiphysis, Dilated third ventr...	ORPHA:397715
Syndactyly Type 5	Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda...	ORPHA:93406
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Renal Tubular Dysgenesis	Pulmonary hypoplasia	ORPHA:3033
Halperin-Birk Syndrome	Semilobar holoprosencephaly, Pseudobulbar paralysis, Inability to walk, Intrauterine growth retar...	OMIM:618651
Polydactyly, Postaxial, Type A1	Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han...	OMIM:174200
Spinal Muscular Atrophy With Impaired Intellectual Development	Microcephaly, Syndactyly	OMIM:271109
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Infant Acute Respiratory Distress Syndrome	Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Tachypnea, Nasal ...	ORPHA:70587
Meconium Aspiration Syndrome	Atelectasis, Aspiration pneumonia, Respiratory distress, Intrauterine growth retardation, Pneumot...	ORPHA:70588
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Dilated third ventricle, Lateral ventricle dilatation, Periventricular cysts, Dyspla...	ORPHA:544488
Congenital Disorder Of Glycosylation, Type Iiy	Cerebral cortical atrophy, Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Hip sublu...	OMIM:620200
Wahab Syndrome	Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal...	OMIM:615170
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Lateral ventricle dilatation	ORPHA:77299
Pontocerebellar Hypoplasia, Type 1A	Cerebral cortical atrophy, Neuronal loss in basal ganglia, Lateral ventricle dilatation, Talipes ...	OMIM:607596
Masa Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Talipes equinovarus, Microcephaly, Hydrocephalus, ...	OMIM:303350
Congenital Lobar Emphysema	Emphysema, Respiratory distress	ORPHA:1928
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Hereditary Butyrylcholinesterase Deficiency	Abnormality of the liver, Abnormal circulating enzyme concentration or activity, Respiratory fail...	ORPHA:132
Phosphoserine Aminotransferase Deficiency	Death in infancy, Apnea, Cyanotic episode	OMIM:610992
Bonnemann-Meinecke-Reich Syndrome	Decreased response to growth hormone stimulation test, Microcephaly, Ventriculomegaly, Cerebral c...	ORPHA:1261
Alg13-Cdg	Abnormal lateral ventricle morphology, Adducted thumb	ORPHA:324422
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Leukoencephalopathy, Lateral ventricle dilatation, Cerebral atrophy, Basal ganglia calcification,...	OMIM:221770
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Ventriculomegaly, Dilated third ventricle, Small hand, Periventricular leukomalacia, Hypoplasia o...	ORPHA:500055
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, C...	OMIM:617296
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Microcephaly, Dilated third ventricle, Abnormal periventricular white matter morphology	OMIM:619725
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Lissencephaly 3	Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Agenesis of corpus callosum,...	OMIM:611603
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Ventriculomegaly	ORPHA:1568
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac...	ORPHA:380
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal...	OMIM:613154
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Respiratory insufficiency, Inability to walk, Elevated circulating creatine kinase concentration,...	ORPHA:266
Polydactyly, Postaxial, Type A5	Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly	OMIM:263450
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:618890
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Esophageal Atresia	Choanal atresia, Pyloric stenosis, Abnormality of the urinary system, Barrett esophagus, Bronchit...	ORPHA:1199
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Microcephaly, Partial agenesis of the corpus callosum, Thin corpus callosum, Lateral ventricle di...	OMIM:619517
Moyamoya Disease	Ventriculomegaly	ORPHA:2573
Epilepsy, Progressive Myoclonic, 9	Ventriculomegaly, Simplified gyral pattern, Short thumb, Agenesis of corpus callosum	OMIM:616540
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Megacystis, Recurrent urinary tract infections, Nephrolithiasis, Recurrent respiratory infections...	OMIM:619365
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly	OMIM:607539
Leukoencephalopathy With Vanishing White Matter 4	Leukoencephalopathy, Cerebral cortical atrophy, Ventriculomegaly, Corpus callosum atrophy	OMIM:620314
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia	ORPHA:71289
Asparagine Synthetase Deficiency	Ventriculomegaly, Dilated third ventricle, Reduced cerebral white matter volume, Dilated fourth v...	OMIM:615574
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Syndactyly Type 3	Short toe, Finger syndactyly, Camptodactyly of finger	ORPHA:93404
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Distal Duplication 14Q	Short stature, Abnormal lung lobation	ORPHA:1705
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of...	ORPHA:157801
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia	ORPHA:2141
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia...	ORPHA:284417
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Recurrent Respiratory Papillomatosis	Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respiratory distr...	ORPHA:60032
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Stillbirth, Pulmonary hypoplasia	OMIM:617468
Schizencephaly	Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum	OMIM:269160
Glutamine Deficiency, Congenital	Lateral ventricle dilatation, Micromelia, Hypoplasia of the corpus callosum, Neonatal death, Camp...	OMIM:610015
Visceral Myopathy 2	Barrett esophagus, Intestinal pseudo-obstruction, Volvulus, Megacystis, Intestinal malrotation, M...	OMIM:619350
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Microcephaly, Shortening of all distal phalanges of the fingers, Thin corpus callosum, Lateral ve...	OMIM:615716
Peroxisome Biogenesis Disorder 6A (Zellweger)	Pachygyria, Colpocephaly, Epiphyseal stippling, Neonatal death	OMIM:614870
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Clinodactyly, Cerebral atrophy, Genu valgum, Hypoplasia of the c...	ORPHA:166024
Cardiomyopathy, Familial Restrictive, 1	Ventriculomegaly	OMIM:115210
Immunodeficiency 95	Recurrent respiratory infections, Recurrent viral upper respiratory tract infections, Respiratory...	OMIM:619773
Hydrolethalus Syndrome 2	Ventriculomegaly, Postaxial foot polydactyly, Preaxial foot polydactyly, Agenesis of corpus callo...	OMIM:614120
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Ventriculomegaly, Thin corpus callosum, Agenesis of corpus callosum	OMIM:618286
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m...	OMIM:605289
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym...	OMIM:609432
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Microcephaly, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:618736
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Talipes equinovarus, Hypoplasia of the corpus callosum	OMIM:613162
Familial Scaphocephaly Syndrome, Mcgillivray Type	Ventriculomegaly, Toe syndactyly, Broad hallux phalanx	ORPHA:168624
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Agenesis of corpus c...	ORPHA:85179
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos...	OMIM:610913
Seizures, Benign Familial Infantile, 3	Apnea, Cyanosis	OMIM:607745
Congenital Myopathy 10A, Severe Variant	Respiratory insufficiency, Elevated circulating creatine kinase concentration, High palate, Dysph...	OMIM:614399
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated circulating thyroid-stimulating hormone concentration, Atelectasis, Cystic pattern on pu...	OMIM:610978
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Lissencephaly Due To Tuba1A Mutation	Ventriculomegaly, Dysgenesis of the basal ganglia, Polymicrogyria, Dilated fourth ventricle, Hypo...	ORPHA:171680
Odontochondrodysplasia 1	Respiratory distress, Mesomelic short stature, Death in infancy, Short stature, Recurrent respira...	OMIM:184260
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Short tibia, Lateral ventricle dilatation,...	ORPHA:356961
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Oxygen d...	ORPHA:2302
Rett Syndrome, Congenital Variant	Depressed nasal bridge, Bulbous nose, Bruxism, Aspiration, Tongue thrusting, Athetosis, Motor ste...	OMIM:613454
Adams-Oliver Syndrome 2	Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Absent distal phalanges, Single t...	OMIM:614219
Vocal Cord And Pharyngeal Distal Myopathy	Difficulty walking, Unsteady gait, Dysphagia, Aspiration	ORPHA:600
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dysgenesis of the basal ganglia, Focal polymicrogyria, Dilated fourth ventricle, Primary microcep...	OMIM:615771
Lethal Congenital Contracture Syndrome 1	Neonatal death, Pulmonary hypoplasia	OMIM:253310
Congenital Varicella Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:291
Seizures, Benign Familial Infantile, 1	Apnea, Cyanosis	OMIM:601764
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypoxemia...	ORPHA:79126
Congenital Arthrogryposis With Anterior Horn Cell Disease	Difficulty walking, Inability to walk, Neonatal death, Dystonia, Respiratory insufficiency due to...	OMIM:611890
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Stillbirth, Syndactyly	ORPHA:294975
Intellectual Developmental Disorder, Autosomal Recessive 69	Ventriculomegaly	OMIM:618383
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Dyspnea, Hypoxemia, H...	ORPHA:79127
High Altitude Pulmonary Edema	Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Dyspnea, Hypoxemia	ORPHA:330012
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Lateral ventricle dilatation, Joint contracture of the 5th finger, Joint contracture ...	OMIM:618914
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Ventriculomegaly, Camptodactyly of finger, Flexion contracture of toe	OMIM:619323
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	High, narrow palate, Horseshoe kidney, Postnatal growth retardation, Intrauterine growth retardat...	ORPHA:96182
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Simpson-Golabi-Behmel Syndrome, Type 2	Postaxial hand polydactyly, Ventriculomegaly, Broad thumb, Short finger	OMIM:300209
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Dilated third ventricle, Lateral ventricle dilatation, Basal ganglia calcification, Cerebral calc...	OMIM:620371
Developmental And Epileptic Encephalopathy 97	Ventriculomegaly	OMIM:619561
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Weiss-Kruszka Syndrome	Decreased response to growth hormone stimulation test, Single transverse palmar crease, Dysplasti...	ORPHA:502430
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Crossed Polysyndactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly	ORPHA:2935
Sudden Infant Death Syndrome	Apneic episodes in infancy	OMIM:272120
Intellectual Developmental Disorder, X-Linked 111	Ventriculomegaly, Reduced cerebral white matter volume, Hippocampal atrophy, Corpus callosum atro...	OMIM:301107
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Lateral ventricle dilatation, Dilated fourth ventricle, Microcephaly,...	ORPHA:3078
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Acute infectious pneumonia, Dyspnea, Recurrent lower resp...	ORPHA:60033
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Macroglossia, Atelectasis, Inability to walk, Aspiration, Hypoventilation, Protruding tongue, Rec...	ORPHA:258
Adnp Syndrome	Depressed nasal bridge, Recurrent upper respiratory tract infections, Abnormal temper tantrums, U...	ORPHA:404448
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Short stature, Polydipsia, Polyuria, Megacystis	OMIM:125800
Pallister-Hall-Like Syndrome	Short stature, Anterior hypopituitarism, Death in infancy, Pulmonary hypoplasia	OMIM:241800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Short stature, Polydipsia, Polyuria, Megacystis	OMIM:304800
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Aspiration, Death in infancy, Self-mutilation, Short stature, Dysphagia	OMIM:618922
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Genu valgum, Hypoplasi...	ORPHA:488627
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal corpus callosum morphology, Ventriculomegaly, Cerebral atrophy, Periventricular cysts, A...	ORPHA:255182
Microcephaly 27, Primary, Autosomal Dominant	Ventriculomegaly, Short finger, Simplified gyral pattern, Primary microcephaly, Metatarsus adduct...	OMIM:619180
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Y-shaped metatarsals, Bro...	OMIM:175700
Pontocerebellar Hypoplasia, Type 13	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Single transverse palmar crease,...	OMIM:618606
Acropectoral Syndrome	Finger syndactyly, Preaxial hand polydactyly	ORPHA:85203
Amyotrophic Lateral Sclerosis 28	Difficulty walking, Dysphagia, Respiratory failure	OMIM:620452
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia of toe, Microcep...	OMIM:600384
Ogden Syndrome	Flared nostrils, Facial wrinkling, Postnatal growth retardation, Pulmonary edema, Jaundice, Minim...	OMIM:300855
Staphylococcal Necrotizing Pneumonia	Pneumonia, Respiratory distress, Pleural effusion, Increased circulating procalcitonin concentrat...	ORPHA:36238
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Edema	OMIM:189800
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Respiratory distress, Tachypnea, Acute infectious pneumonia, Hypoxemia	ORPHA:264675
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Developmental And Epileptic Encephalopathy 100	Depressed nasal bridge, Broad nasal tip, Gait ataxia, Aspiration, Protruding tongue, Dysphagia, H...	OMIM:619777
Liebenberg Syndrome	Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin...	OMIM:186550
Corpus Callosum, Partial Agenesis Of, X-Linked	Ventriculomegaly, Dislocated radial head, Hypoplasia of the corpus callosum, Microcephaly, Hydroc...	OMIM:304100
Atelosteogenesis, Type Ii	Stillbirth, Death in infancy, Pulmonary hypoplasia	OMIM:256050
Mitochondrial Complex I Deficiency, Nuclear Type 33	Intrauterine growth retardation, Apnea, Bronchiectasis, Aspiration pneumonia	OMIM:618253
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor...	OMIM:620317
Holoprosencephaly 5	Hydrocephalus, Microcephaly, Lateral ventricle dilatation	OMIM:609637
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Pulmonary hypoplasia	OMIM:616867
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Tachypnea, Dyspnea, Abnormal pulmon...	ORPHA:178320
Adrenomyodystrophy	Abnormal intestine morphology, Abnormality of the urinary system, Hepatic steatosis, Megacystis	ORPHA:977
Achondrogenesis Type 2	Short stature, Pulmonary hypoplasia	ORPHA:93296
Pontine Tegmental Cap Dysplasia	Dysphagia, Aspiration, Dysmetria, Ataxia	OMIM:614688
Craniosynostosis 6	Microcephaly, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:616602
Split-Hand/Foot Malformation 1	Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,...	OMIM:183600
Chromosome 2Q35 Duplication Syndrome	2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly	OMIM:185900
Trimethylaminuria	Anemia, Trimethylaminuria, Splenomegaly, Neutropenia	OMIM:602079
Mosaic Trisomy 1	Hand clenching, Toe syndactyly, Lateral ventricle dilatation, Broad 2nd toe, Finger clinodactyly,...	ORPHA:1692
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Dysphagia, Respiratory failure, Tremor, Ataxia	OMIM:618637
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd...	ORPHA:1892
Yoon-Bellen Neurodevelopmental Syndrome	Ventriculomegaly, Cerebral atrophy, Periventricular leukomalacia, Hypoplasia of the corpus callos...	OMIM:619701
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti...	OMIM:616726
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Microcolon, Pulmonary hypoplasia, Renal cortical hyperechogenicity, Ileal atresia, Anuria, Megacy...	OMIM:619351
Juvenile Neuronal Ceroid Lipofuscinosis	Episodic tachypnea, Apnea, Aspiration pneumonia	ORPHA:79264
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Bronchiectasis, Atelectasis	OMIM:615294
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Microcephaly, 2-4 toe syndactyly, Syndactyly	OMIM:241000
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia	OMIM:609054
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Pulmonary hypoplasia	OMIM:601163
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He...	OMIM:615285
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology, Hypoplasia of the corpus callosum, Hypermobility of toe jo...	ORPHA:488635
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy	OMIM:611722
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Radioulnar synostosis, Microcephaly, Clinodactyly of the 5th finger, Abnormali...	ORPHA:3268
Nanophthalmos	Microphthalmia	ORPHA:35612
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Orofaciodigital Syndrome Xv	Ventriculomegaly, Broad hallux, Agenesis of corpus callosum, Duplication of phalanx of hallux, Po...	OMIM:617127
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory insufficiency, Respiratory failure, Death in infancy, Elevated circulating creatine k...	OMIM:613869
Congenital Hydrocephalus	Small cerebral cortex, Ventriculomegaly, Abnormal cortical gyration, Colpocephaly, Hydrocephalus,...	ORPHA:2185
Syndactyly, Type V	Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact...	OMIM:186300
Combined Oxidative Phosphorylation Defect Type 39	Abnormal corpus callosum morphology, Lateral ventricle dilatation, Cerebral atrophy, Deep white m...	ORPHA:565624
Microcephaly-Cardiomyopathy Syndrome	Clinodactyly of the 5th finger, Ventriculomegaly, Microcephaly, Sandal gap	ORPHA:2515
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Nanophthalmos 4	Microphthalmia	OMIM:615972
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation, Broad hallux, Hypoplasia of the corpus callosum, Single transverse ...	OMIM:614105
Hydrocephalus, Congenital, X-Linked	Corticospinal tract hypoplasia, Thumb contracture, Absent septum pellucidum, Agenesis of corpus c...	OMIM:307000
Congenital Myopathy 14	Abnormal circulating creatine kinase concentration, Death in infancy, Respiratory insufficiency d...	OMIM:618414
Bilateral Striopallidodentate Calcinosis	Microcephaly, Ventriculomegaly, Cerebral calcification	ORPHA:1980
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Thin corpus callosum, Frontal pol...	OMIM:608629
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Loss of ambulation, Pulmonary fibrosis, Dysphagia	ORPHA:254361
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Agnathia-Otocephaly Complex	Respiratory distress, Pulmonary hypoplasia	OMIM:202650
Microcephaly 17, Primary, Autosomal Recessive	Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microlissenceph...	OMIM:617090
Bullous Dystrophy, Hereditary Macular Type	Severe short stature, Acrocyanosis, Death in childhood	OMIM:302000
Niemann-Pick Disease, Type C2	Neonatal respiratory distress, Respiratory insufficiency, Splenomegaly, Death in childhood, Death...	OMIM:607625
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Pulmonary hypoplasia	OMIM:617895
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Lateral ventricle dilatation, Hypoplast...	OMIM:277590
Peho-Like Syndrome	Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Progressive microcephaly, Pa...	OMIM:617507
Alternating Hemiplegia Of Childhood	Ataxia, Oral-pharyngeal dysphagia, Flushing, Aspiration, Aggressive behavior, Anorexia, Dysphagia...	ORPHA:2131
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Autosomal Recessive Spastic Paraplegia Type 66	Talipes equinovarus, Colpocephaly, Hypoplasia of the corpus callosum	ORPHA:401815
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:616081
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Small hand, Lateral ventricle dilatation, Abnormal thalamus morphology, Polymicrogyria, Type II l...	ORPHA:300570
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Recurrent pneumonia, Respiratory insufficiency, Difficulty walking, Respiratory insufficiency due...	ORPHA:254875
Bilateral Generalized Polymicrogyria	Diffuse white matter abnormalities, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the...	ORPHA:208447
Butyrylcholinesterase Deficiency	Apnea	OMIM:617936
Split-Hand/Foot Malformation 6	Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot	OMIM:225300
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Renal insufficiency, Hepatomegaly, Jaund...	ORPHA:890
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing...	OMIM:610713
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Lethal Congenital Contracture Syndrome Type 1	Short stature, Pulmonary hypoplasia	ORPHA:1486
Sarcoidosis, Susceptibility To, 2	Emphysema, Hypoxemia, Pleural effusion, Pneumothorax, Dyspnea, Abnormal pulmonary interstitial mo...	OMIM:612387
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Reduced cerebral white matter volume, Lateral ventricle dilatation, Parietal cortical atrophy, Si...	OMIM:620075
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebral cortical atrophy, Ventriculomegaly, Progressive microcephaly, Hypoplasia of the corpus c...	OMIM:617862
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:255320
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Dysphagia, Aspiration, Agitation	ORPHA:2148
Malan Overgrowth Syndrome	Ventriculomegaly, Lateral ventricle dilatation, Slender long bone, Hypoplasia of the corpus callosum	ORPHA:420179
Multiple Mitochondrial Dysfunctions Syndrome 5	Pachygyria, Microcephaly, Ventriculomegaly	OMIM:617613
Alpha-1-Antitrypsin Deficiency	Dyspnea, Bronchiectasis, Panacinar emphysema, Chronic bronchitis	OMIM:613490
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Birt-Hogg-Dubé Syndrome	Emphysema, Medullary thyroid carcinoma, Pneumothorax, Parathyroid adenoma, Pulmonary sequestration	ORPHA:122
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ...	ORPHA:2357
Severe Neonatal-Onset Encephalopathy With Microcephaly	Apnea, Growth delay	ORPHA:209370
Thanatophoric Dysplasia	Intrauterine growth retardation, Disproportionate short-limb short stature, Pulmonary hypoplasia	ORPHA:2655
Tonne-Kalscheuer Syndrome	Short stature, Growth delay, Pulmonary hypoplasia	OMIM:300978
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Neonatal death, Stillbirth, Pulmonary hypoplasia	OMIM:236500
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs	ORPHA:1548
Familial Visceral Myopathy	Hydroureter, Megacystis, Anteverted nares, Prominent nasal bridge, Vesicoureteral reflux, Agangli...	ORPHA:2604
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Respiratory insufficiency, Elevated circulating creatine kinase...	ORPHA:370968
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Amyotrophic Lateral Sclerosis 21	Dysphagia, Aspiration	OMIM:606070
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Cerebral hypoplasia, Ventriculomegaly, Reduced cerebral white matter volume, Hypoplasia of the co...	OMIM:617977
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Nemaline Myopathy 8	Dysphagia, Respiratory failure, Death in infancy	OMIM:615348
Auriculocondylar Syndrome 4	Apnea	OMIM:620457
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Congenital Myopathy 10B, Mild Variant	Recurrent pneumonia, Difficulty walking, Abnormal circulating creatine kinase concentration, Elev...	OMIM:620249
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Rhizomelia, Neonatal short-limb short stature, Respiratory distress, Stillbirth, Pulmonary hypopl...	OMIM:151210
Leukoencephalopathy, Cystic, Without Megalencephaly	Leukoencephalopathy, Ventriculomegaly, Cerebral calcification, Focal white matter lesions, Microc...	OMIM:612951
Serkal Syndrome	Abnormality of the adrenal glands, Growth delay, Pulmonary hypoplasia	ORPHA:139466
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Short stature, Aplasia/Hypoplasia of the lungs	ORPHA:2204
Macdermot-Winter Syndrome	Microcephaly, Ventriculomegaly, Camptodactyly of finger	OMIM:247990
Intellectual Developmental Disorder, Autosomal Dominant 48	Lateral ventricle dilatation, Polymicrogyria, Dilated fourth ventricle, Hypoplasia of the corpus ...	OMIM:617751
Bilateral Perisylvian Polymicrogyria	Choanal atresia, Pseudobulbar paralysis, Intrauterine growth retardation, Aspiration, Dysmetria, ...	ORPHA:98889
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:615872
Cach Syndrome	Lateral ventricle dilatation, Cerebral atrophy, Dysgyria, T2 hypointense thalamus, Microcephaly, ...	ORPHA:135
Severe Neurodegenerative Syndrome With Lipodystrophy	Gait ataxia, Hepatic steatosis, Hypertriglyceridemia, Limb dystonia, Tremor, Cirrhosis, Hyperacti...	ORPHA:363400
Tetrasomy 5P	Respiratory distress, Postnatal growth retardation, Cyanosis, Recurrent respiratory infections, P...	ORPHA:3309
48,Xxyy Syndrome	Recurrent respiratory infections, Apnea, Type II diabetes mellitus, Hypergonadotropic hypogonadism	ORPHA:10
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities	OMIM:600721
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Microcolon, Hepatic failure, Hydroureter, Megacystis, Intestinal malrotation, Portal hypertension...	OMIM:619431
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Hydrocephalus	OMIM:614830
Adams-Oliver Syndrome 4	Umbilical hernia, Microphthalmia	OMIM:615297
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:254210
Catel-Manzke Syndrome	Ventriculomegaly, Abnormal epiphysis morphology, Camptodactyly of finger, Radial deviation of the...	ORPHA:1388
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased liver function, Generalized dystonia, Inability to walk, Abnormal circulating enzyme co...	ORPHA:70472
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Lethal Osteosclerotic Bone Dysplasia	Gingival fibromatosis, Gingival overgrowth, Median cleft palate, Respiratory failure	ORPHA:1832
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Curry-Jones Syndrome	Ventriculomegaly, Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Agen...	ORPHA:1553
Hypophosphatasia, Infantile	Disproportionate short-limb short stature, Apnea, Death in infancy, Stillbirth, Recurrent respira...	OMIM:241500
Brachydactyly Type B	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty...	ORPHA:93383
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Methylmalonic aciduria, Respiratory insufficiency, Elevated circul...	OMIM:245400
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Loss of ambulation, Dysphagia, Tongue atrophy, Respiratory failure	OMIM:613435
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:238446
Maternal Uniparental Disomy Of Chromosome 2	Decreased response to growth hormone stimulation test, Postnatal growth retardation, Intrauterine...	ORPHA:96179
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Neonatal death, Disproportionate short-limb short stature, Pulmonary hypopl...	OMIM:224410
3-Hydroxyisobutyric Aciduria	Cerebral cortical atrophy, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Cerebral ...	ORPHA:939
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:605809
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Aspiration, Death in infancy	OMIM:610768
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Apnea, Death in infancy	OMIM:616277
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Polymicrogyria, Polydactyly, Hydrocephalus, Cavum septum pellucidum, Megalencep...	OMIM:602501
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
X-Linked Intellectual Disability, Wilson Type	Microcephaly, Lateral ventricle dilatation	ORPHA:85290
Oculopharyngodistal Myopathy 1	Difficulty walking, Aspiration, Ataxia, High palate, Dysphagia, Hypercapnia	OMIM:164310
Pontocerebellar Hypoplasia, Type 4	Dysphagia, Respiratory failure, Death in infancy	OMIM:225753
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Decreased liver function, Renal dysplasia, Renal insufficiency, Hepatic steatos...	OMIM:614922
Pontocerebellar Hypoplasia Type 4	Central apnea	ORPHA:166063
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Myotubular Myopathy With Abnormal Genital Development	Atelectasis, Glandular hypospadias, Penile hypospadias, Death in infancy, Neonatal death, Micrope...	OMIM:300219
Fryns Microphthalmia Syndrome	Anophthalmia, Neural tube defect, Microphthalmia	OMIM:600776
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Ventriculomegaly, Cerebral atrophy, Small basal ganglia, Abnormal periventricular white matter mo...	OMIM:616900
Bardet-Biedl Syndrome 5	Syndactyly, Brachydactyly, Polydactyly	OMIM:615983
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Intrauterine growth retardation, Apnea	OMIM:619048
Ravine Syndrome	Apnea	ORPHA:99852
Aicardi Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Polymicrogyria, Microcephaly, Choroid plex...	OMIM:304050
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Dy...	ORPHA:95430
Microcephaly-Microcornea Syndrome, Seemanova Type	Short stature, Growth delay, Microphthalmia	ORPHA:2528
Orofaciodigital Syndrome Type 14	Postaxial foot polydactyly, Dilated third ventricle, Broad hallux, Open operculum, Dilated fourth...	ORPHA:434179
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
1Q41Q42 Microdeletion Syndrome	Short stature, Growth delay, Hypergonadotropic hypogonadism, Pulmonary hypoplasia	ORPHA:250999
Myasthenic Syndrome, Congenital, 16	Apnea	OMIM:614198
Heart-Hand Syndrome, Slovenian Type	Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Surfactant Metabolism Dysfunction, Pulmonary, 4	Tachypnea, Intraalveolar phospholipid accumulation	OMIM:300770
Galactose Epimerase Deficiency	Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Galactosemia Iii	Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Erythema, Intrauterine growth retardation, Aspiration, High palate, Growth delay	OMIM:614653
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Neonatal death, Pulmonary hypoplasia	OMIM:231680
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Hypoventilation	ORPHA:314655
Autosomal Recessive Primary Microcephaly	Ventriculomegaly, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly, Pac...	ORPHA:2512
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital pulmonary airway malformation, Intrauterine growth retardation, Bilateral lung agenesi...	OMIM:611812
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax, Pulmonary hypoplasia	OMIM:620306
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Increased circulating lactate dehydrogenase concentration, Oligosacchariduria, Respiratory insuff...	ORPHA:308552
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ...	OMIM:616217
Hermansky-Pudlak Syndrome 10	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Apnea	OMIM:617050
Brachydactyly Type B2	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ...	ORPHA:140908
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Natal tooth, Postnatal growth retardation, Abnormality of the kidney, Prominent nasal septum, Hig...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Natal tooth, Postnatal growth retardation, Abnormality of the kidney, Prominent nasal septum, Hig...	ORPHA:353277
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Shallow acetabular fossae, Ulnar deviation of finger, Broad femoral neck, Rhizomelia,...	OMIM:611209
Lissencephaly 6 With Microcephaly	Ventriculomegaly, Polymicrogyria, Simplified gyral pattern, Hypoplasia of the corpus callosum, Si...	OMIM:616212
Developmental And Epileptic Encephalopathy 61	Apnea	OMIM:617933
2Q24 Microdeletion Syndrome	Growth delay, Central apnea	ORPHA:1617
Benign Familial Infantile Epilepsy	Apnea, Cyanosis	ORPHA:306
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions, Cyanosis	ORPHA:137935
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:3035
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Reduced cerebral white matter volume, Cerebral atrophy, Polymicrogyria, Hypopla...	OMIM:620156
Mitochondrial Complex I Deficiency, Nuclear Type 13	Apnea, Death in infancy	OMIM:618235
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Diaphanospondylodysostosis	Respiratory distress, Intrauterine growth retardation, Disproportionate short-trunk short stature...	OMIM:608022
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Choanal atresia, Anal stenosis, Hydroureter, Ureterocele, Renal agenesis, Megacystis, Xerostomia,...	OMIM:604292
Giant Axonal Neuropathy 1, Autosomal Recessive	Talipes equinovarus, Abnormal pyramidal tract morphology, Lateral ventricle dilatation	OMIM:256850
Chromosome 6Q24-Q25 Deletion Syndrome	Small hand, Sandal gap, Prominent fingertip pads, Lateral ventricle dilatation, Probst bundles, A...	OMIM:612863
Multiple Pterygium Syndrome, X-Linked	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:312150
Intellectual Developmental Disorder, Autosomal Dominant 56	Secondary microcephaly, Thin corpus callosum, Lateral ventricle dilatation	OMIM:617854
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Visceral Myopathy 1	Microcolon, Urinary retention, Megacystis, Intestinal pseudo-obstruction, Megaduodenum, Vesicoure...	OMIM:155310
C1Q Deficiency 2	Atelectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory tract infection...	OMIM:620321
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract	Apneic episodes in infancy	ORPHA:500545
Thanatophoric Dysplasia, Type I	Neonatal death, Disproportionate short-limb short stature, Lethal short-limbed short stature, Pul...	OMIM:187600
Gaucher Disease, Perinatal Lethal	Respiratory distress, Intrauterine growth retardation, Apnea, Neonatal death, Pulmonary hypoplasia	OMIM:608013
Developmental And Epileptic Encephalopathy 38	Aspiration, Ataxia	OMIM:617020
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:100024
Gillessen-Kaesbach-Nishimura Syndrome	Pulmonary hypoplasia, Abnormal lung lobation	OMIM:263210
Mitochondrial Complex I Deficiency, Nuclear Type 4	Apnea, Death in childhood	OMIM:618225
Intermediate Nemaline Myopathy	High, narrow palate, Long philtrum, Difficulty walking, Dysphagia, Respiratory failure	ORPHA:171433
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Autosomal Recessive Spastic Paraplegia Type 53	Microcephaly, Ventriculomegaly, Cortical dysplasia, Upper limb hypertonia	ORPHA:319199
Brain Small Vessel Disease 2	Schizencephaly, Ventriculomegaly, Porencephalic cyst, Polymicrogyria	OMIM:614483
Idiopathic Chronic Eosinophilic Pneumonia	Atelectasis, Pleural effusion, Dyspnea, Hypersensitivity pneumonitis, Hypoxemia	ORPHA:2902
17P13.3 Microduplication Syndrome	Congenital hip dislocation, Ventriculomegaly, Clinodactyly of the 5th finger, Hypoplasia of the c...	ORPHA:217385
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni...	ORPHA:217563
Neuromuscular Oculoauditory Syndrome	Unsteady gait, Reduced renal corticomedullary differentiation, Multiple renal cysts, Aspiration	OMIM:618733
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
Mitochondrial Complex I Deficiency, Nuclear Type 14	Apnea	OMIM:618236
Alg3-Cdg	Abnormality of the endocrine system, Pulmonary hypoplasia	ORPHA:79321
Ceroid Lipofuscinosis, Neuronal, 10	Apnea, Neonatal death	OMIM:610127
Arthrogryposis Multiplex Congenita 6	Akinesia, Death in childhood, Death in infancy, Neonatal death, Hypospadias, Respiratory failure	OMIM:619334
Fetal Akinesia Deformation Sequence	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:994
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Lateral ventricle dilatation, Periventricular leukomalacia, Abnormal caudate nucleus morphology, ...	ORPHA:293725
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Exertional dyspnea, Recurrent respirator...	ORPHA:3348
Pericardial And Diaphragmatic Defect	Pulmonary sequestration, Hypoxemia, Pulmonary hypoplasia	ORPHA:2847
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Pseudo-Torch Syndrome 2	Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Cerebral calcification, Microcephaly	OMIM:617397
Pyruvate Dehydrogenase E1-Alpha Deficiency	Long philtrum, Episodic ataxia, Tremor, Lethargy, Dystonia, Respiratory failure, Choreoathetosis	OMIM:312170
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Bilateral lung agenesis, Neonatal death	OMIM:601612
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Ventriculomegaly, Micromelia, Flared metaphys...	OMIM:187601
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ...	OMIM:225280
Distal Deletion 10Q	2-3 toe cutaneous syndactyly, Clinodactyly, Prominent fingertip pads, Sandal gap, Lateral ventric...	ORPHA:96148
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Microcephaly	OMIM:618276
Matthew-Wood Syndrome	Abnormal lung morphology, Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:2470
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation, Brachydactyly	OMIM:619995
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot	OMIM:313350
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Arachnodactyly, Ventriculomegaly, Primary microcephaly	ORPHA:2172
Pontocerebellar Hypoplasia, Type 6	Apnea, Death in childhood	OMIM:611523
Multiple Pterygium Syndrome, Lethal Type	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:253290
Pneumocystosis	Increased circulating lactate dehydrogenase concentration, Respiratory insufficiency, Interstitia...	ORPHA:723
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Apnea	OMIM:617290
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Respiratory insufficiency	OMIM:618328
Central Neurocytoma	Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus	ORPHA:73256
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs	ORPHA:3346
Cog5-Cdg	Joint contracture of the hand, Lateral ventricle dilatation, Finger clinodactyly, Camptodactyly o...	ORPHA:263487
Genitopatellar Syndrome	Short stature, Apnea, Pulmonary hypoplasia	ORPHA:85201
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Neonatal respiratory distress, Recurrent sinusitis, Chronic bronchitis, Resp...	OMIM:608647
Mhc Class I Deficiency 1	Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Bronchiectasis	OMIM:604571
Joubert Syndrome 23	Tachypnea, Apnea	OMIM:616490
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Splenomegaly, Proteinuria, Hepatomegaly, Jaundice	OMIM:620010
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H...	OMIM:608836
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Attrv30M Amyloidosis	Nephropathy, Cardiomegaly, Cardiomyopathy, Abnormal renal physiology	ORPHA:85447
Renal-Hepatic-Pancreatic Dysplasia 2	Pulmonary hypoplasia, Stillbirth, Abnormal lung lobation	OMIM:615415
Infantile Sialic Acid Storage Disease	Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome	OMIM:269920
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Increased circulating lactate dehydrogenase concentration, Abnorma...	ORPHA:168486
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Microcephaly, Ventriculomegaly, Cerebral atrophy	OMIM:617051
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Focal pancreatic isle...	ORPHA:79644
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Amyloidosis, Hereditary Systemic 2	Nephropathy, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syndrome	OMIM:105200
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Intrauterine growth retardation, Pleural effusion, Pulmonary hypoplasia	OMIM:616897
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema, Short stature	OMIM:210050
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar...	ORPHA:370010
Achondroplasia	Rhizomelia, Neonatal short-limb short stature, Respiratory distress, Death in infancy, Pulmonary ...	OMIM:100800
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Dilated third ventricle, Abnormal cerebral white matter morphology, Cerebral atrophy	ORPHA:314404
Scimitar Syndrome	Pulmonary artery hypoplasia, Bronchogenic cyst, Respiratory distress, Pneumothorax, Partial anoma...	ORPHA:185
Acropectorovertebral Dysplasia	Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Radial d...	OMIM:102510
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis	OMIM:610293
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Pulmonary artery atresia, Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:618316
Platyspondylic Dysplasia, Torrance Type	Disproportionate short-limb short stature, Pulmonary hypoplasia	ORPHA:85166
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Waardenburg Syndrome Type 3	Narrow nasal bridge, Acrocyanosis, Atelectasis	ORPHA:896
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Renal Tubular Dysgenesis	Pulmonary hypoplasia	OMIM:267430
Congenital Toxoplasmosis	Ascites, Cardiomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice	ORPHA:858
Cleft Velum	Cleft soft palate, Velopharyngeal insufficiency, Oral-pharyngeal dysphagia, Aspiration pneumonia	ORPHA:99772
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ventriculomegaly, Clinodactyly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, H...	OMIM:618577
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypopnea, Respiratory distress, Apnea, Cyanosis, Death in childhood, Death in infancy, Recurrent ...	OMIM:618426
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia	OMIM:218670
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Avian Influenza	Pneumonia, Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increase...	ORPHA:454836
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Myoclonus, Intractable, Neonatal	Apnea	OMIM:617235
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Broad-based gait, Cleft soft palate, Reduced subcutaneous adipose tissue, High palate, ...	OMIM:619503
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Brachydactyly, Type B2	Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor...	OMIM:611377
Primary Ciliary Dyskinesia	Nasal polyposis, Atelectasis, Nasal congestion, Intestinal malrotation, Pulmonary situs ambiguus,...	ORPHA:244
Microphthalmia, Syndromic 9	Severe short stature, Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Bilateral lung...	OMIM:601186
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Short stature, Central apnea	OMIM:615031
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Nephronophthisis 2	Nephronophthisis, Respiratory insufficiency, Hyperechogenic kidneys, Stage 5 chronic kidney disea...	OMIM:602088
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Increased urinary O-li...	OMIM:256550
Spastic Paraplegia 47, Autosomal Recessive	Ventriculomegaly, Abnormal periventricular white matter morphology, Acetabular dysplasia, Hypopla...	OMIM:614066
Proximal Symphalangism	Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact...	ORPHA:3250
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly	OMIM:614480
Macrocephaly, Benign Familial	Ventriculomegaly	OMIM:153470
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Congenital Myopathy 21 With Early Respiratory Failure	Lipoid pneumonia, Respiratory failure, Elevated circulating creatine kinase concentration	OMIM:620326
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Tented upper lip vermilion, Gait ataxia, Dysmetria, Tremor, Intention tremor, Steppage gait, Atax...	OMIM:616505
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Pulmonary artery aneurysm, Depressed nasal bridge, Bilateral choanal atresia, In...	OMIM:616462
Renal Hypodysplasia/Aplasia 1	Pulmonary hypoplasia	OMIM:191830
Developmental And Epileptic Encephalopathy 59	Ventriculomegaly	OMIM:617904
Combined Oxidative Phosphorylation Deficiency 57	Central hypoventilation, Apnea, Death in infancy, Neonatal death, Central diabetes insipidus, Nep...	OMIM:620167
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Biemond Syndrome Type 2	Short stature, Delayed puberty, Microphthalmia	ORPHA:141333
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:86822
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Mitochondrial Complex I Deficiency, Nuclear Type 5	Apnea, Growth delay	OMIM:618226
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Ventriculomegaly, Lateral ventricle dilatation, Trident pelvis, Short hume...	OMIM:619479
Spinocerebellar Ataxia Type 1	Postural tremor, Gait imbalance, Dysmetria, Dystonia, Gait disturbance, Bradykinesia, Respiratory...	ORPHA:98755
Neuralgic Amyotrophy	Short stature, Bifid uvula, Acrocyanosis, Cleft palate	ORPHA:2901
Hyperekplexia 4	High palate, Respiratory failure	OMIM:618011
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Tip-toe gait, Difficulty walking, Elevated circulating creatine kinase concentration, Macroglossi...	OMIM:606612
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Renal insufficiency, H...	ORPHA:445038
Tay-Sachs Disease	Aspiration	OMIM:272800
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma...	ORPHA:615
Allergic Bronchopulmonary Aspergillosis	Emphysema, Bronchiectasis	ORPHA:1164
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Alpha-aminoadipic aciduria, R...	OMIM:605711
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp...	OMIM:603903
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Diffuse cerebral atrophy, Cerebral cortical atrophy, Ventriculomegaly	OMIM:615362
Developmental And Epileptic Encephalopathy 99	Ventriculomegaly, Frontotemporal cerebral atrophy, Microcephaly, Thin corpus callosum, Thick corp...	OMIM:619606
5Q14.3 Microdeletion Syndrome	Ventriculomegaly, Toe syndactyly, Frontal cortical atrophy, Hypoplasia of the corpus callosum	ORPHA:228384
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Clinodactyly, Hypoplasia of the corpus callosum, Microcephaly, Cerebral white matter hypoplasia, ...	OMIM:619091
Neuropathy, Congenital Hypomyelinating, 3	Respiratory insufficiency, Gingival overgrowth, Thick vermilion border, Neonatal death, Dystonia,...	OMIM:618186
Joubert Syndrome 30	Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Postaxial hand polydactyly, Dandy-...	OMIM:617622
Microcephaly-Micromelia Syndrome	Neonatal death, Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:251230
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure	OMIM:600561
Hyperekplexia 1	Aspiration	OMIM:149400
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Homocystinuria, Methylmalonic aciduria, Decreased methionine synthase activity, Lethargy, Gait di...	OMIM:250940
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Microcolon, Multicystic kidney dysplasia, Hydroureter, Megacystis, Intestinal malrotation, Death ...	ORPHA:2241
Tenorio Syndrome	Hypoinsulinemia, Recurrent pneumonia, Apnea	OMIM:616260
Benign Familial Neonatal-Infantile Seizures	Apnea	ORPHA:140927
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Decreased liver function, Death in childhood, Hyperphosphaturia, Renal...	OMIM:220110
Ullrich Congenital Muscular Dystrophy	Torticollis, Respiratory failure, Abnormal palate morphology, Elevated circulating creatine kinas...	ORPHA:75840
Tetraploidy	Intrauterine growth retardation, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the thymus	ORPHA:3305
Trisomy 5P	Ventriculomegaly, Abnormal metacarpal morphology	ORPHA:1742
Hemochromatosis, Type 2B	Hepatic fibrosis, Cardiomyopathy, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly	OMIM:613313
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Ventriculomegaly, Frontal cortical atrophy	OMIM:300699
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Pulmonary hypoplasia	OMIM:314390
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Short stature, Intrauterine growth retardation, Microphthalmia	OMIM:616171
Mitochondrial Complex I Deficiency, Nuclear Type 6	Apnea	OMIM:618228
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Intrauterine growth retardation, Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs	ORPHA:2570
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617967
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Aplasia/Hypoplasia of the lungs	ORPHA:1046
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Lateral ventricle dilata...	OMIM:210710
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating hepatic transaminase concentra...	ORPHA:26791
Boomerang Dysplasia	Decreased response to growth hormone stimulation test, Severe short-limb dwarfism, Aplasia/Hypopl...	ORPHA:1263
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum, Camptodactyly of finger	ORPHA:1495
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Cerebral cortical atrophy, Lewy bodies, Lateral ventricle dilatation, Neurofibrillary tangles	OMIM:607485
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Cyanosis, Hydrocephalus, Spina bifida, Ataxia, Dysphagia	OMIM:207950
Hypoadrenocorticism, Familial	Cyanosis, Adrenal insufficiency, Apnea, Adrenal hypoplasia	OMIM:240200
Developmental And Epileptic Encephalopathy 70	Cerebral cortical atrophy, Ventriculomegaly, Microcephaly	OMIM:618298
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventri...	OMIM:616589
Lissencephaly 8	Ventriculomegaly, Polymicrogyria, Type II lissencephaly, Hypoplasia of the corpus callosum, Talip...	OMIM:617255
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Difficulty walking, Dysphagia, Respiratory failure, Elevated circulating creatine kinase concentr...	OMIM:613954
Developmental And Epileptic Encephalopathy 54	Ventriculomegaly	OMIM:617391
Immunodeficiency 54	Respiratory insufficiency, Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Respirat...	OMIM:609981
Pontocerebellar Hypoplasia Type 2	Ventriculomegaly, Abnormal cortical gyration, Upper limb hypertonia, Bilateral single transverse ...	ORPHA:2524
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Apnea	OMIM:619797
Joubert Syndrome 31	Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:617761
Marden-Walker Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:248700
Wars2-Related Combined Oxidative Phosphorylation Defect	Leukoencephalopathy, Ventriculomegaly, Lateral ventricle dilatation, Cerebral atrophy, Dilated fo...	ORPHA:572798
Craniosynostosis, Herrmann-Opitz Type	Short stature, Intrauterine growth retardation, Aplasia/Hypoplasia of the lungs	ORPHA:2145
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Fanconi Anemia, Complementation Group W	Ventriculomegaly, Absent thumb, Decreased response to growth hormone stimulation test, Abnormal p...	OMIM:617784
Joubert Syndrome 9	Episodic tachypnea, Apnea	OMIM:612285
Mogs-Cdg	Respiratory distress, Apnea, Hypoventilation, Pulmonary edema, Hypothyroidism, Inappropriate anti...	ORPHA:79330
Gm2-Gangliosidosis, Ab Variant	Aspiration	OMIM:272750
Glycosylphosphatidylinositol Biosynthesis Defect 17	Clinodactyly of the 5th toe, Dysplastic corpus callosum, Microcephaly, Hypertriglyceridemia, Clin...	OMIM:618010
Truncus Arteriosus	Pulmonary artery hypoplasia, Abnormal lung lobation, Intrauterine growth retardation, Cyanosis, A...	ORPHA:3384
Severe Congenital Nemaline Myopathy	Pulmonary hypoplasia	ORPHA:171430
Cat-Eye Syndrome	Short stature, Intrauterine growth retardation, Microphthalmia	ORPHA:195
Pyruvate Dehydrogenase E1-Beta Deficiency	Ventriculomegaly, Corticospinal tract hypoplasia, Periventricular cysts, Periventricular leukomal...	ORPHA:255138
Alg1-Cdg	Protein-losing enteropathy, Decreased liver function, Renal insufficiency, Abnormality of the kid...	ORPHA:79327
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Abnormal corpus callosum morphology, Cerebral cortical atrophy, Ventriculomegaly, Toe syndactyly,...	ORPHA:3224
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat...	ORPHA:99931
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Cryptogenic Organizing Pneumonia	Ground-glass opacification, Parenchymal consolidation, Cyanosis, Pneumothorax, Anorexia, Hypoxemia	ORPHA:1302
Achondrogenesis	Severe short stature, Aplasia/Hypoplasia of the lungs	ORPHA:932
Xk Aprosencephaly Syndrome	Polyhydramnios, Microphthalmia	ORPHA:3469
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Gaucher Disease, Type Ii	Apnea, Recurrent aspiration pneumonia, Bronchiolitis, Death in infancy	OMIM:230900
Leigh Syndrome, Nuclear	Respiratory insufficiency, Hepatocellular necrosis, Ataxia, Dystonia, Respiratory failure	OMIM:256000
Septooptic Dysplasia	Short finger, Decreased response to growth hormone stimulation test, Absent septum pellucidum, Po...	OMIM:182230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Ventriculomegaly	OMIM:613151
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Microphthalmia, Isolated 5	Cystoid macular edema, Microphthalmia	OMIM:611040
Cornelia De Lange Syndrome 2	Small hand, Ventriculomegaly, Clinodactyly, Limited elbow movement, Microcephaly, Brachydactyly, ...	OMIM:300590
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Ventriculomegaly, Temporal cortical atrophy, Frontal cortical atrophy, Caudate atrophy	ORPHA:137831
Congenital Disorder Of Glycosylation, Type Iih	Ventriculomegaly, Clinodactyly of the 3rd toe, Finger clinodactyly, Talipes equinovarus, Microcep...	OMIM:611182
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Microcephaly, Primary microcephaly, Lateral ventricle dilatation, Cerebral atrophy	OMIM:619847
Tubulinopathy-Associated Dysgyria	Abnormal corpus callosum morphology, Ventriculomegaly, Abnormality of the internal capsule, Abnor...	ORPHA:467166
Coproporphyria, Hereditary	Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Jaundice,...	OMIM:121300
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E...	OMIM:618052
Orofaciodigital Syndrome Xvii	Ventriculomegaly, Clinodactyly, Partial duplication of thumb phalanx, Short middle phalanx of the...	OMIM:617926
Achondrogenesis Type 1B	Severe short stature, Disproportionate short stature, Aplasia/Hypoplasia of the lungs	ORPHA:93298
Nemaline Myopathy 2	Apnea	OMIM:256030
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato...	ORPHA:93476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Lissencephaly, Ventriculomegaly, Type II lissencephaly, Agenesis of corpus callosum, Abnormal cer...	OMIM:613153
Histidinuria-Renal Tubular Defect Syndrome	Rounded middle phalanx of finger, Ventriculomegaly, Short middle phalanx of finger, Cerebral cort...	ORPHA:2158
Short-Rib Thoracic Dysplasia 12	Renal hypoplasia, Natal tooth, Lobulated tongue, Atelectasis, Hamartoma of tongue, Intestinal mal...	OMIM:269860
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Frontal encephalocele, Microphthalmia	ORPHA:1528
Leukodystrophy, Hypomyelinating, 24	Microcephaly, Ventriculomegaly, Thin corpus callosum, Cerebral atrophy	OMIM:619851
Joubert Syndrome 33	Apnea	OMIM:617767
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal corpus callosum morphology, Congenital hip dislocation, Lateral ventricle dilatation, Co...	ORPHA:457279
Houge-Janssens Syndrome 2	Ventriculomegaly, Broad hallux, Deviation of the 5th finger, Hypoplasia of the corpus callosum, A...	OMIM:616362
Teebi Hypertelorism Syndrome 1	Short stature, Pulmonary hypoplasia	OMIM:145420
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating hepatic transaminase concentration, Respiratory insufficiency, Cholestasis, ...	OMIM:609015
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Jeune Syndrome	Short stature, Aplasia/Hypoplasia of the lungs	ORPHA:474
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Short 3rd metacarpal, Short thumb, Short 4th toe, 2-4 toe cutaneous syndactyly, Short 5th metacar...	OMIM:618569
Hemimegalencephaly	Ventriculomegaly, Focal cortical dysplasia, Polymicrogyria, Hemimegalencephaly, Hyperintensity of...	ORPHA:99802
Cofs Syndrome	Short stature, Intrauterine growth retardation, Microphthalmia	ORPHA:1466
6Q25 Microdeletion Syndrome	Ventriculomegaly, Camptodactyly of finger, Agenesis of corpus callosum, Microcephaly, Clinodactyl...	ORPHA:251056
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Ventriculomegaly	OMIM:206570
Hsd10 Disease, Infantile Type	Cyanosis, Abnormality of the lower urinary tract, Loss of ambulation, Dysphagia, Abnormal concent...	ORPHA:391428
Autosomal Recessive Amelia	Aplasia/Hypoplasia of the lungs	ORPHA:1027
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Pulmonary hypoplasia	OMIM:616866
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Elevated circulating creatine kinase concentration	OMIM:604801
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h...	OMIM:252920
Microcephalic Primordial Dwarfism, Toriello Type	Microcephaly, Ventriculomegaly, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia	OMIM:274270
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Autosomal Recessive Spastic Paraplegia Type 11	Cerebral cortical atrophy, Hypothalamic atrophy, Lateral ventricle dilatation, Abnormal substanti...	ORPHA:2822
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Ventriculomegaly, Reduced cerebral white matter volume, Overlapping toe, Single transverse palmar...	OMIM:617807
Mmep Syndrome	Microphthalmia	ORPHA:3434
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Ground-glass opacification, Or...	ORPHA:2032
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Nephrolithiasis, Elevated circulating creatine kinase concentration, Respiratory insufficiency du...	ORPHA:352447
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Noonan Syndrome 14	Clinodactyly, Lateral ventricle dilatation, Limited elbow extension, Cubitus valgus, Deep palmar ...	OMIM:619745
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hypospadias, Death in infancy, 3-Methylglutaconic aciduria, Abnormality of the kidney, Hepatomega...	ORPHA:1194
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Abnormal circulating creatine kinase concentration, Death in childhood, Loss of ambulation, Letha...	OMIM:615838
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Miscarriage, Pulmonary hypoplasia	ORPHA:1865
Ataxia-Deafness-Intellectual Disability Syndrome	Cerebral cortical atrophy, Ventriculomegaly	ORPHA:1188
Cutis Laxa, Autosomal Recessive, Type Ic	Wide nasal bridge, Pyloric stenosis, Peripheral pulmonary artery stenosis, Recurrent pneumonia, M...	OMIM:613177
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Microcephaly, Ventriculomegaly, Agenesis o...	OMIM:615286
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia	OMIM:614082
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Short stature, Microphthalmia	OMIM:610023
Neurocardiofaciodigital Syndrome	Lateral ventricle dilatation, Dilated fourth ventricle, Hypoplasia of the corpus callosum, Polyda...	OMIM:619869
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg...	OMIM:603552
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Ventriculomegaly, Hypoplasia of the corpus callosum	ORPHA:521390
Bilateral Frontoparietal Polymicrogyria	Cortical dysplasia, Ventriculomegaly, Microcephaly, Cerebral dysmyelination	ORPHA:101070
Den Hoed-De Boer-Voisin Syndrome	Small hand, Ventriculomegaly, Sandal gap, Lateral ventricle dilatation, Secondary microcephaly, 2...	OMIM:619229
Acro-Renal-Mandibular Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia, Abnormal lung lobation	ORPHA:958
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger	ORPHA:376
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Microphthalmia, Syndromic 13	Short stature, Microphthalmia	OMIM:300915
Multiple Mitochondrial Dysfunctions Syndrome 3	Beta-aminoisobutyric aciduria, High palate, Respiratory failure, Respiratory insufficiency	OMIM:615330
Tarp Syndrome	Intrauterine growth retardation, Apnea, Cyanosis, Pulmonary hypoplasia	ORPHA:2886
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Pfeiffer Syndrome Type 1	Broad thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hallux varus, Sh...	ORPHA:93258
Weiss-Kruszka Syndrome	Ventriculomegaly, Single transverse palmar crease, Agenesis of corpus callosum, Hypoplasia of the...	OMIM:618619
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus, Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:617022
Infantile Neuroaxonal Dystrophy	Apneic episodes in infancy, Aspiration pneumonia	ORPHA:35069
Meacham Syndrome	Congenital alveolar dysplasia, Scimitar anomaly, Death in childhood, Neonatal death, Death in inf...	OMIM:608978
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Progressive ...	OMIM:615760
Scedosporiosis	Pneumonia, Abnormal jejunum morphology, Bronchitis, Abnormal renal morphology, Pulmonary fibrosis...	ORPHA:449280
Central Hypoventilation Syndrome, Congenital, 3	Apnea, Central hypoventilation	OMIM:619483
Metatropic Dysplasia	Severe short stature, Aplasia/Hypoplasia of the lungs	ORPHA:2635
Ciliary Dyskinesia, Primary, 1	Pneumonia, Anosmia, Nasal polyposis, Atelectasis, Recurrent bronchitis, Chronic rhinitis, Communi...	OMIM:244400
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Hydroureter, Respiratory failure, Death in infancy	OMIM:618240
Leukodystrophy, Hypomyelinating, 4	Apnea	OMIM:612233
Absence Of The Pulmonary Artery	Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Orthopnea, Dyspnea, Recurrent respira...	ORPHA:980
Mitochondrial Complex I Deficiency, Nuclear Type 31	Ventriculomegaly	OMIM:618251
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Ventriculomegaly, Simplified gyral pattern, Thick corpus callosum	OMIM:618273
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Dyspnea, Recurrent re...	OMIM:610910
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Wide nasal bridge, Delayed eruption of teeth, Atelectasis, Generalized abnormality of skin, Recur...	ORPHA:2314
Ciliary Dyskinesia, Primary, 53	Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly...	OMIM:620642
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Inability to walk, Recurrent hand flapping, Gait ataxia, Cyanosis, Protruding tongue, Aggressive ...	OMIM:619580
Pulmonary Alveolar Microlithiasis	Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Oxygen desaturati...	ORPHA:60025
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Hydrocephalus	ORPHA:324416
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ...	ORPHA:2633
Atypical Rett Syndrome	Episodic tachypnea, Abnormal pattern of respiration, Growth delay, Sudden episodic apnea	ORPHA:3095
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Apnea, Death in infancy	OMIM:614498
Myasthenic Syndrome, Congenital, 24, Presynaptic	Apnea	OMIM:618198
Hypophosphatasia	Emphysema, Short stature	ORPHA:436
Li-Ghorbani-Weisz-Hubshman Syndrome	Clinodactyly of the 5th finger, Overlapping toe, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:618974
Spondylometaphyseal Dysplasia, X-Linked	Respiratory failure, Respiratory insufficiency	OMIM:313420
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Anisocytos...	OMIM:615631
Pierpont Syndrome	Ventriculomegaly, Abnormal cortical gyration, Short toe, Prominent fingertip pads, Short finger, ...	ORPHA:487825
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona...	ORPHA:99050
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Adducted thumb, Aqueductal ...	ORPHA:2182
Chromosome 1Q41-Q42 Deletion Syndrome	Short stature, Pulmonary hypoplasia	OMIM:612530
Achondrogenesis Type 1A	Severe short stature, Aplasia/Hypoplasia of the lungs	ORPHA:93299
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory insufficiency, Death in infancy, Lethargy, Ataxia, Hepatomegaly, Respiratory failure	OMIM:614299
Terminal Osseous Dysplasia	Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Cam...	OMIM:300244
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Ventriculomegaly, Frontal cortical atrophy, Scapular winging	ORPHA:206559
Atelosteogenesis Type I	Neonatal short-trunk short stature, Rhizomelia, Pulmonary hypoplasia	ORPHA:1190
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Recurrent pneumonia, Widely spaced teeth, Elevated circulating creatine kinase concentration, Neu...	ORPHA:496641
Caudal Regression Syndrome	Maternal diabetes, Pulmonary hypoplasia	ORPHA:3027
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Microcephaly, Ventriculomegaly	OMIM:619150
Neuromyelitis Optica Spectrum Disorder	Functional abnormality of the bladder, Respiratory failure	ORPHA:71211
Congenital Bile Acid Synthesis Defect Type 1	Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg...	ORPHA:79301
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Genu valgum, Polydacty...	ORPHA:65759
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Developmental And Epileptic Encephalopathy 9	Ventriculomegaly	OMIM:300088
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Apnea, Central hypoventilation	OMIM:300673
Presynaptic Congenital Myasthenic Syndromes	Cyanosis, Episodic respiratory distress, Apneic episodes precipitated by illness, fatigue, stress...	ORPHA:98914
Congenital Myasthenic Syndrome	Cyanosis, Episodic respiratory distress, Apneic episodes precipitated by illness, fatigue, stress...	ORPHA:590
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral...	OMIM:301068
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De...	OMIM:617514
Congenital Myopathy 11	Apneic episodes in infancy	OMIM:619967
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Hepatomegal...	OMIM:620296
Pontocerebellar Hypoplasia, Type 16	Apnea	OMIM:619527
Stuve-Wiedemann Syndrome 1	Intrauterine growth retardation, Apnea, Death in infancy, Pulmonary arterial medial hypertrophy, ...	OMIM:601559
2,4-Dienoyl-Coa Reductase Deficiency	Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Colpocephaly...	OMIM:616034
Rahman Syndrome	Camptodactyly, Talipes equinovarus, Ventriculomegaly, Thin corpus callosum	OMIM:617537
Joubert Syndrome 21	Dyspnea, Apnea, Pulmonary hypoplasia	OMIM:615636
X-Linked Intellectual Disability, Cantagrel Type	Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus callosum	ORPHA:85277
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Absent cupid's bow, Crossed fused renal ectopia, Cleft soft pal...	ORPHA:2919
Muscular Dystrophy, Congenital, With Or Without Seizures	Elevated circulating creatine kinase concentration, Loss of ambulation, Ataxia, Dysphagia, Respir...	OMIM:620166
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Sh...	OMIM:113000
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polysyndactyly of hallux, Lateral ventricle dilatation, Postaxial polysyndactyly of foot, Preaxia...	OMIM:263520
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short stature, Pulmonary hypoplasia	OMIM:614091
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Abnormality of the philtrum, Recurrent...	ORPHA:2759
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Gabriele-De Vries Syndrome	Lateral ventricle dilatation, Sandal gap, Cortical dysplasia, Hallux valgus, Long fingers, Finger...	OMIM:617557
Peroxisome Biogenesis Disorder 11A (Zellweger)	Apnea	OMIM:614883
49,Xyyyy Syndrome	Short 5th finger, Ventriculomegaly, Finger clinodactyly, Bridged palmar crease, Radioulnar synost...	ORPHA:99330
Hypomelanosis Of Ito	Radial deviation of finger, Clinodactyly, Cerebral atrophy, Microcephaly, Hand polydactyly, Synda...	OMIM:300337
Linear Verrucous Nevus Syndrome	Ventriculomegaly, Toe syndactyly, Aplasia/Hypoplasia of the corpus callosum, Short metacarpal, Da...	ORPHA:2611
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, A...	OMIM:618603
Distal Triplication 15Q	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:314588
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy	OMIM:600649
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Splenomegaly, Cirrhosis, Hepatomegaly	OMIM:602390
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr...	ORPHA:98754
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Prader-Willi Syndrome Due To Translocation	Cerebral cortical atrophy, Small hand, Clinodactyly, Lateral ventricle dilatation, Decreased resp...	ORPHA:177907
Harderoporphyria	Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Prolonged neonatal j...	OMIM:618892
Mitochondrial Complex I Deficiency, Nuclear Type 10	Broad-based gait, Dysmetria, Ataxia, Dysphagia, Respiratory failure	OMIM:618233
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate...	OMIM:616860
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Kagami-Ogata Syndrome	Pulmonary hypoplasia	OMIM:608149
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Autosomal Recessive Polycystic Kidney Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni...	ORPHA:731
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Pleural effusion, Cyanosis, Pulmonary edema	OMIM:261740
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Cortical dysplasia, Ventriculomegaly, Microcephaly, Hypoplasia of the corpus callosum	ORPHA:457260
Developmental And Epileptic Encephalopathy 90	Apneic episodes in infancy, Hypothyroidism	OMIM:301058
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Pleural effusion, Pulmonary hypoplasia	OMIM:620369
Aminopterin Syndrome Sine Aminopterin	Joint contracture of the hand, Clinodactyly, Short thumb, Arachnodactyly, Microcephaly, Brachydac...	OMIM:600325
4Q21 Microdeletion Syndrome	Small hand, Toe syndactyly, Ventriculomegaly, Micromelia, Agenesis of corpus callosum, Short foot...	ORPHA:238750
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade...	OMIM:619375
Joubert Syndrome 7	Episodic tachypnea, Tachypnea, Central apnea	OMIM:611560
Bainbridge-Ropers Syndrome	Hand clenching, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Arachnodactyly, ...	OMIM:615485
Hsd10 Disease	Microcephaly, Ventriculomegaly, Frontotemporal cerebral atrophy, Focal white matter lesions	ORPHA:391417
Galloway-Mowat Syndrome 5	Pachygyria, Ventriculomegaly, Periventricular leukomalacia, Primary microcephaly	OMIM:617731
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Ventriculomegaly, Cerebral atrophy, Polymicrogyria, Hypoplasia of the corpus callosum, Microcephaly	OMIM:614254
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Short stature, Pulmonary hypoplasia	OMIM:615503
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Jaundice, Cholestasis, Splenomegaly	ORPHA:172
Propionic Acidemia	Short stature, Tachypnea, Apnea	OMIM:606054
Meckel Syndrome 14	Pneumothorax, Cyanosis, Pulmonary hypoplasia	OMIM:619879
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Fatco Syndrome	Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology...	ORPHA:2492
6P22 Microdeletion Syndrome	Hydrocephalus, Finger syndactyly, Clinodactyly	ORPHA:251046
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr...	ORPHA:98793
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Small hand, Ventriculomegaly, Sandal gap, Polymicrogyria, Hypoplasia of the corpus callosum, Abno...	OMIM:300354
Sclerosteosis	Curved distal phalanges of the hand, Finger syndactyly, Diaphyseal undertubulation, 2-3 finger sy...	ORPHA:3152
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Ventriculomegaly, Cone-shaped epiphysis, Short toe, Broad hallux, Short finger, Cerebral atrophy,...	OMIM:618659
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Oculoskeletodental Syndrome	Short 5th finger, Clinodactyly, Abnormal thalamus morphology, Hypoplasia of the capital femoral e...	ORPHA:557003
Developmental And Epileptic Encephalopathy 65	Microcephaly, Ventriculomegaly, Cerebral atrophy	OMIM:618008
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Triosephosphate Isomerase Deficiency	Cholelithiasis, Respiratory insufficiency, Cholecystitis, Splenomegaly, Death in infancy, Dystoni...	OMIM:615512
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion	OMIM:618773
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr...	ORPHA:177904
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Leukoencephalopathy, Ventriculomegaly, Cerebral atrophy, Dilated fourth ventricle, Agenesis of co...	OMIM:620428
Periventricular Nodular Heterotopia 1	Clinodactyly, Short finger, Hypoplasia of the corpus callosum, Thin corpus callosum, Syndactyly	OMIM:300049
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice	OMIM:619658
Mehmo Syndrome	Decreased response to growth hormone stimulation test, Microcephaly, Ventriculomegaly, Hypoplasia...	OMIM:300148
Microhydranencephaly	Ventriculomegaly, Hydranencephaly, Agenesis of corpus callosum, Talipes equinovarus, Microcephaly...	OMIM:605013
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly	ORPHA:664
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Vacterl Association With Hydrocephalus	Renal hypoplasia, Respiratory insufficiency, Stillbirth, Anal atresia, Respiratory failure	OMIM:276950
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr...	ORPHA:177901
Meckel Syndrome, Type 8	Occipital encephalocele, Encephalocele, Anophthalmia, Microphthalmia, Pericardial effusion	OMIM:613885
Czeizel-Losonci Syndrome	Pulmonary hypoplasia	ORPHA:2437
Mucopolysaccharidosis Type 1	Short stature, Recurrent respiratory infections, Apnea	ORPHA:579
Kohlschutter-Tonz Syndrome	Microcephaly, Ventriculomegaly, Cerebral atrophy	OMIM:226750
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Hyperintensity of cerebral white matter on MRI, Fing...	ORPHA:48431
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Abnormality of the lymphat...	ORPHA:1414
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital thrombocy...	OMIM:618886
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Postaxial polydactyly, Hydro...	OMIM:603387
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia	OMIM:619708
Goldberg-Shprintzen Megacolon Syndrome	Ventriculomegaly, Finger syndactyly, Hypoplasia of the corpus callosum, Microcephaly, Pachygyria	ORPHA:66629
Pulmonary Edema Of Mountaineers, Susceptibility To	Pulmonary edema, Edema	OMIM:178400
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Mosaic Variegated Aneuploidy Syndrome	Abnormal lung lobation, Intrauterine growth retardation, Apnea, Hypothyroidism, Short stature, Gr...	ORPHA:1052
Congenital Muscular Dystrophy, Fukuyama Type	Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Type II lissencephaly, Camptodactyly...	ORPHA:272
Nasu-Hakola Disease	Cerebral cortical atrophy, Ventriculomegaly, Abnormal epiphysis morphology, Cerebral calcificatio...	ORPHA:2770
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ventriculomegaly, Periventricular leukomalacia, Acetabular dysplasia, Microcephaly, Colpocephaly,...	OMIM:619833
Oxoglutarate Dehydrogenase Deficiency	Ventriculomegaly	OMIM:203740
Narp Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Abnormal basal ganglia MRI signal intensity, Cortico...	ORPHA:644
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Double Outlet Right Ventricle	Aplasia/Hypoplasia of the thymus, Hypoparathyroidism, Cyanosis, Tachypnea, Short stature, Pulmona...	ORPHA:3426
Postsynaptic Congenital Myasthenic Syndromes	Cyanosis, Fatigable weakness of neck muscles, Decreased miniature endplate potentials, High palat...	ORPHA:98913
Car T Cell Therapy-Associated Cytokine Release Syndrome	Pulmonary edema, Tachypnea, Pleural effusion, Hypoxemia	ORPHA:542323
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Ventriculomegaly, Radial bowing, Micromelia, Preaxial polydactyly, Ulnar bowing, Single transvers...	OMIM:617866
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Ventriculomegaly, Aplasi...	ORPHA:1988
Hemochromatosis, Type 1	Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Cirrhosis, Hepatomegaly, Hepatocellular carc...	OMIM:235200
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Meckel Syndrome, Type 6	Bilobed right lung, Pulmonary hypoplasia	OMIM:612284
Mercury Poisoning	Acute kidney injury, Interstitial pneumonitis, Tremor, Anorexia, Dystonia, Respiratory failure	ORPHA:330021
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)	Ventriculomegaly, Frontal polymicrogyria, Cerebral dysmyelination, Perisylvian polymicrogyria	OMIM:606854
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Mosaic Trisomy 16	Abnormal lung morphology, Intrauterine growth retardation, Maternal diabetes, Pulmonary hypoplasia	ORPHA:1708
Brachytelephalangic Chondrodysplasia Punctata	Postnatal growth retardation, Proportionate short stature, Pulmonary artery stenosis, Tachypnea, ...	ORPHA:79345
Cryofibrinogenemia, Familial Primary	Hematuria, Transient nephrotic syndrome, Acrocyanosis	OMIM:123540
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Exertional dyspnea, Intraalveolar phospholipid accumulation, Interlobular septal thickening	OMIM:614370
Achondrogenesis, Type Ia	Disproportionate short-trunk short stature, Stillbirth, Pulmonary hypoplasia	OMIM:200600
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Decreased carnitine level in ...	OMIM:212140
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Pulmonary hypoplasia	OMIM:263200
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Ventriculomegaly, Avascular necrosis of the capital femoral epiphysis	OMIM:611555
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Intellectual Developmental Disorder, Autosomal Recessive 41	Clinodactyly of the 5th finger, Ventriculomegaly, Prominent fingertip pads	OMIM:615637
Fanconi Renotubular Syndrome 5	Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Neurodevelopmental Disorder With Involuntary Movements	Cerebral atrophy, Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:617493
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Secondary microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Clinodact...	OMIM:620113
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Spastic Paraplegia 50, Autosomal Recessive	Ventriculomegaly, Hypoplasia of the corpus callosum, Talipes equinovarus, Microcephaly, Adducted ...	OMIM:612936
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo...	ORPHA:860
Aicardi-Goutieres Syndrome 4	Ventriculomegaly, Cerebral atrophy, Cerebral calcification, Progressive microcephaly, Hydrocephalus	OMIM:610333
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Apnea, Hypopnea, Hypoventilation, Aspiration pneumonia	OMIM:619482
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Pleural effusion, Exertional dyspnea, Dy...	OMIM:620233
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Depressed nasal bridge, Bruising susceptibility, Atelectasis, Postnatal growth retardation, Antev...	ORPHA:536467
Glycogen Storage Disease Due To Acid Maltase Deficiency	Increased circulating lactate dehydrogenase concentration, Oligosacchariduria, Atelectasis, Respi...	ORPHA:365
Chronic Pneumonitis Of Infancy	Ground-glass opacification, Cyanosis, Diffuse reticular or finely nodular infiltrations, Hyperven...	ORPHA:91359
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Cli...	ORPHA:3210
Chromosome 3Q13.31 Deletion Syndrome	Ventriculomegaly, Proximal placement of thumb, Agenesis of corpus callosum	OMIM:615433
Hartsfield Syndrome	Intrauterine growth retardation, Encephalocele, Microphthalmia	ORPHA:2117
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Renal insufficiency, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocyto...	ORPHA:79312
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Apneic episodes in infancy	OMIM:610006
Autosomal Recessive Multiple Pterygium Syndrome	Short stature, Intrauterine growth retardation, Hypogonadism, Pulmonary hypoplasia	ORPHA:2990
Caribbean Parkinsonism	Cerebral cortical atrophy, Ventriculomegaly, T2 hypointense basal ganglia, Midline brain calcific...	ORPHA:97355
Bardet-Biedl Syndrome 4	Syndactyly, Brachydactyly, Polydactyly	OMIM:615982
Aicardi-Goutieres Syndrome 9	Lateral ventricle dilatation, Cerebral atrophy, Basal ganglia calcification, Cerebral calcificati...	OMIM:619487
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty...	OMIM:252100
Dravet Syndrome	Obsessive-compulsive trait, Progressive gait ataxia, Cyanotic episode, Bradykinesia, Impulsivity	ORPHA:33069
Curry-Jones Syndrome	Ventriculomegaly, Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot polyd...	OMIM:601707
Lujo Hemorrhagic Fever	Oliguria, Atelectasis, Renal insufficiency, Ecchymosis, Purpura, Microscopic hematuria, Rhinitis,...	ORPHA:319213
Cornelia De Lange Syndrome 5	Small hand, Toe syndactyly, Ventriculomegaly, Limited elbow extension, Microcephaly, Clinodactyly...	OMIM:300882
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Toe syndactyly, Finger syndactyly, Polymicrogyria, Hand polydactyly, Hydrocepha...	ORPHA:60040
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Short humerus, Microcephaly, Sho...	OMIM:618367
Mucolipidosis Iv	Dysplastic corpus callosum, Microcephaly, Cerebral dysmyelination	OMIM:252650
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Pfeiffer Syndrome	Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin...	OMIM:101600
Laryngeal Abductor Paralysis	Dysphagia, Cyanosis	OMIM:150260
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Male hypogonadism, Apnea	OMIM:300055
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid...	OMIM:208540
Temtamy Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Talipes equinovarus, Brachydactyly, Thick corpus c...	OMIM:218340
Proximal Spinal Muscular Atrophy	Neonatal respiratory distress, Difficulty walking, Inability to walk, Recurrent infections due to...	ORPHA:70
Monosomy 5P	Microcephaly, Small hand, Finger syndactyly	ORPHA:281
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of finger, Triphalangeal ...	ORPHA:2251
Eosinophilic Granulomatosis With Polyangiitis	Nasal polyposis, Recurrent intrapulmonary hemorrhage, Abnormal pleura morphology, Cutis marmorata...	ORPHA:183
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Anophthalmia, Microphthalmia	OMIM:164180
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice	OMIM:619868
Charlie M Syndrome	Finger syndactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Brachydactyly	ORPHA:1406
Combined Oxidative Phosphorylation Deficiency 4	Hepatomegaly, Opisthotonus, Respiratory failure, Death in infancy	OMIM:610678
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Apnea, Growth delay, Abnormal pattern of respiration	OMIM:608800
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Hyperintensi...	ORPHA:500180
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Ventriculomegaly, Clinodactyly of the 2nd finger, Micromelia, Monkey wrench femoral neck, Genu va...	OMIM:618870
Unilateral Polymicrogyria	Apnea, Cyanosis, Pulmonary arteriovenous malformation	ORPHA:268943
Baraitser-Winter Syndrome 2	Ventriculomegaly, Secondary microcephaly, Agenesis of corpus callosum, Pachygyria, Lissencephaly	OMIM:614583
Congenital Muscular Dystrophy Without Intellectual Disability	Pachygyria, Microcephaly, Ventriculomegaly, Abnormal cerebral white matter morphology	ORPHA:370980
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Intellectual Developmental Disorder, Autosomal Recessive 46	Ventriculomegaly	OMIM:616116
Wieacker-Wolff Syndrome	Short stature, Apnea	OMIM:314580
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Microcephaly, Colpocephaly, Polymicrogyria	OMIM:618731
Joubert Syndrome 22	Intrauterine growth retardation, Microphthalmia	OMIM:615665
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Aplasia/Hypoplasia of the lungs, Anomalous pulmonary venous return, Abnormal lu...	ORPHA:1120
Oculocerebrorenal Syndrome Of Lowe	Hematuria, Proximal renal tubular acidosis, Motor stereotypy, Self-injurious behavior, Aminoacidu...	ORPHA:534
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Adrenal hypoplasia, Stillbirth, Short stature, Mild intrauterine growth retardation, Thyroid hypo...	OMIM:308050
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Tented upper lip vermilion, High palate, Micropenis, Recurrent respiratory infections,...	ORPHA:98905
Congenital Tricuspid Valve Dysplasia	Intrauterine growth retardation, Cyanosis, Tachypnea, Hypoxemia, Anomalous pulmonary venous return	ORPHA:555874
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Pontocerebellar Hypoplasia, Type 9	Cerebral cortical atrophy, Ventriculomegaly, Secondary microcephaly, Periventricular leukomalacia...	OMIM:615809
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Diffuse white matter abnormalities, Ventriculomegaly, Agenesis of corpus callosum, 2-3 toe syndac...	OMIM:218000
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus, Communi...	OMIM:615219
Congenital Pulmonary Lymphangiectasia	Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis	ORPHA:2414
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Episodic tachypnea	ORPHA:163961
Juvenile Huntington Disease	Ventriculomegaly, Neuronal loss in basal ganglia, Abnormal cerebral white matter morphology	ORPHA:248111
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos...	OMIM:616828
Congenital Myopathy 17	Respiratory tract infection, Pulmonary hypoplasia	OMIM:618975
Cold Agglutinin Disease	Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Christianson Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Microceph...	ORPHA:85278
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hypoplasia of the thymus, Intrauterine growth retardation, Apnea, Death in childhood	OMIM:214110
Camptobrachydactyly	Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy...	ORPHA:1319
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis	ORPHA:163596
22Q11.2 Deletion Syndrome	Anal atresia, Purpura, Polycystic kidney dysplasia, Hypospadias, Choanal atresia, Bulbous nose, A...	ORPHA:567
Endocrine-Cerebroosteodysplasia	Ventriculomegaly, Sandal gap, Micromelia, Preaxial polydactyly, Focal polymicrogyria, Fibular bow...	OMIM:612651
Verloove Vanhorick-Brubakk Syndrome	Abnormality of the parathyroid gland, Aplasia/Hypoplasia of the lungs	ORPHA:3429
Fanconi Anemia, Complementation Group I	Absent thumb, Short thumb, Short 1st metacarpal, Decreased response to growth hormone stimulation...	OMIM:609053
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis	ORPHA:91130
Chromosome 13Q33-Q34 Deletion Syndrome	Short stature, Pulmonary hypoplasia	OMIM:619148
Laurin-Sandrow Syndrome	Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup...	OMIM:135750
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Fusion of the left and right thalami, Hydrocephalus, Agen...	OMIM:617542
Even-Plus Syndrome	Epiphyseal dysplasia, Dysplasia of the femoral head, Dysplastic corpus callosum, Agenesis of corp...	OMIM:616854
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Difficulty walking, Respiratory failure, Elevated circulating creatine kinase concentration	OMIM:603689
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal...	ORPHA:848
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Self-injurious behavior, Depressed nasal bridge, Recurrent upper respiratory tract infections, Po...	ORPHA:293987
Niemann-Pick Disease Type C	Aspiration pneumonia, Hepatosplenomegaly, Limb dystonia, Axial dystonia, Ataxia, Hepatomegaly, Ja...	ORPHA:646
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Acrocephalopolydactylous Dysplasia	Extrapulmonary lobar sequestration, Pulmonary hypoplasia	OMIM:200995
Gm1-Gangliosidosis, Type Iii	Diffuse cerebral atrophy, Flared iliac wing, Ventriculomegaly, Hypoplastic acetabulae	OMIM:230650
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h...	OMIM:235700
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Hip dislocation, Coxa valga	OMIM:109120
Thanatophoric Dysplasia Type 2	Short stature, Aplasia/Hypoplasia of the lungs	ORPHA:93274
Autosomal Recessive Cutis Laxa Type 2A	Congenital hip dislocation, Secondary microcephaly, Dilated fourth ventricle, Dysplastic corpus c...	ORPHA:357058
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Increased circulating corticosterone level, Decr...	OMIM:610600
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Abnormal urinary color, Emphysema, Pulmonary lymphangiomyomatosis, Pulm...	ORPHA:538
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Apnea	OMIM:616896
Auriculocondylar Syndrome 1	Apnea	OMIM:602483
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Raine Syndrome	Short stature, Neonatal death, Death in infancy, Pulmonary hypoplasia	OMIM:259775
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Ventriculomegaly, Elbow flexion contracture, Basal ganglia calcifi...	OMIM:214150
Acropectorovertebral Dysplasia	Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt...	ORPHA:957
Late-Onset Familial Hypoaldosteronism	Postnatal growth retardation, Elevated serum 11-deoxycortisol, Decreased circulating aldosterone ...	ORPHA:556037
Developmental And Epileptic Encephalopathy 101	Apnea	OMIM:619814
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Increased circulating free fatty acid level, Respiratory distress, Episodic tachypnea,...	ORPHA:26793
Alkuraya-Kucinskas Syndrome	Lissencephaly, Hand clenching, Ventriculomegaly, Clinodactyly, Aplasia/Hypoplasia of the corpus c...	OMIM:617822
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Apnea	OMIM:612949
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Secondary microcephaly, Ventriculomegaly, Neonatal death	OMIM:613730
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter...	OMIM:617394
Clcn4-Related X-Linked Intellectual Disability Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Periventricular leukomalacia, Hypoplasia of the corp...	ORPHA:485350
Snakebite Envenomation	Gingival bleeding, Acute kidney injury, Neuromuscular dysphagia, Pseudobulbar paralysis, Respirat...	ORPHA:449285
Choanal Atresia	Choking episodes, Recurrent respiratory infections, Cyanosis, Nasal congestion	ORPHA:137914
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Ventriculomegaly, Proximal placement of thumb	OMIM:618624
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Mild postnatal growth re...	OMIM:265300
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells	OMIM:620282
Renal Agenesis, Bilateral	Pulmonary hypoplasia	ORPHA:1848
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Broad thumb, Toe syndactyly, Aplasia/Hypoplasia of t...	ORPHA:505237
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Pancreatitis, Respiratory failure	ORPHA:70578
Muscular Dystrophy, Duchenne Type	Tip-toe gait, Elevated circulating creatine kinase concentration, Loss of ambulation, Respiratory...	OMIM:310200
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Ventriculomegaly, Hypoplasia of the corpus callosum, 2-3 toe syndactyly, Microcephaly, Adducted t...	OMIM:619121
Early-Onset Familial Hypoaldosteronism	Postnatal growth retardation, Elevated serum 11-deoxycortisol, Decreased circulating aldosterone ...	ORPHA:556030
Cardiomyopathy, Dilated, 2H	Tachypnea, Neonatal death	OMIM:620203
Oculoauriculovertebral Spectrum With Radial Defects	Short stature, Maternal diabetes, Aplasia/Hypoplasia of the lungs	ORPHA:2549
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Secondary microcephaly, Partial agenesis of the corp...	ORPHA:500144
Neurological Conditions Associated With Aminoacylase 1 Deficiency	Apnea	ORPHA:137754
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Ventriculomegaly, Abnormal cerebral white matter morphology, Cerebral atrophy	OMIM:617268
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent pneumonia, Emphysema, Aplasia of the thymus, Recurrent bronchopulmonary infections, Bro...	OMIM:242700
Craniofrontonasal Dysplasia	Finger syndactyly, Sandal gap, Camptodactyly of finger, Hypoplasia of the corpus callosum, Down-s...	ORPHA:1520
Meier-Gorlin Syndrome 4	Emphysema, Intrauterine growth retardation, Birth length less than 3rd percentile, Short stature	OMIM:613804
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Restrictive Dermopathy 2	Rectal prolapse, Intrauterine growth retardation, Cyanosis, Convex nasal ridge	OMIM:619793
Rhombencephalosynapsis	Ventriculomegaly, Finger syndactyly, Fusion of the left and right thalami, Polydactyly, Hydroceph...	ORPHA:59315
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Apnea, Cyanosis	OMIM:261680
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Ataxia	ORPHA:2254
Riddle Syndrome	Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Enuresis nocturna, Bronchitis, Recurrent sinus...	ORPHA:420741
Neuronal Intranuclear Inclusion Disease	Leukoencephalopathy, Ventriculomegaly	OMIM:603472
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Radio-Renal Syndrome	High, narrow palate, Multicystic kidney dysplasia, Chylothorax, Downturned corners of mouth, Rena...	ORPHA:3015
Joubert Syndrome	Episodic tachypnea, Apnea, Abnormality of the hypothalamus-pituitary axis, Abnormal pattern of re...	ORPHA:475
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Recurrent respiratory infections, Respiratory failure, Splenomegaly	ORPHA:3226
49,Xxxyy Syndrome	Ventriculomegaly, Finger clinodactyly, Abnormal cerebral white matter morphology, Increased circu...	ORPHA:261534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly, Hip...	OMIM:613156
Congenital Disorder Of Deglycosylation 2	Ventriculomegaly, Broad thumb, Sandal gap, Polymicrogyria, Hypothalamic hamartoma, Ulnar deviatio...	OMIM:619775
Developmental And Epileptic Encephalopathy 31B	Ventriculomegaly, Reduced cerebral white matter volume, Secondary microcephaly, Agenesis of corpu...	OMIM:620352
Hyperglycinemia, Lactic Acidosis, And Seizures	Apnea, Growth delay	OMIM:614462
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Short stature, Microphthalmia	OMIM:251270
Neu-Laxova Syndrome	Hypogonadism, Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:2671
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Ventriculomegaly, Finger syndactyly, ...	ORPHA:1647
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Cerebrofacioarticular Syndrome	Ventriculomegaly, Caudal appendage, Hypoplasia of the corpus callosum, Agenesis of corpus callosu...	ORPHA:314679
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Polyhydramnios, Microphthalmia	ORPHA:2547
Helsmoortel-Van Der Aa Syndrome	Small hand, Ventriculomegaly, Sandal gap, Prominent fingertip pads, Short 4th toe, Broad hallux, ...	OMIM:615873
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Short stature, Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia	OMIM:208500
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ...	ORPHA:1788
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Type I diabetes mellitus, Pulmonary fibrosis	OMIM:620365
Pagod Syndrome	Pulmonary artery hypoplasia, Death in infancy, Abnormality of the pulmonary artery, Short stature...	ORPHA:991
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Pulmonary fibrosis, Tachypnea	OMIM:615934
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Chylothorax, Death in childhood, Death in infancy, High palate, Dysphagia, Respiratory failure	OMIM:620278
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Hydranencephaly, Camptodactyly of finger, Mesomelic/rhi...	ORPHA:2839
Oligomeganephronia	Pulmonary venous occlusion, Pulmonary hypoplasia	ORPHA:2260
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Abnormality of the wrist, Abnormal thumb morphology, Finger syndactyly, Proximal placement of thumb	ORPHA:1825
Xq12-Q13.3 Duplication Syndrome	Ventriculomegaly, Cutaneous finger syndactyly, Hypoplasia of the corpus callosum, 2-3 toe syndact...	ORPHA:314389
Smith-Kingsmore Syndrome	Short distal phalanx of finger, Rhizomelia, Ventriculomegaly, Reduced cerebral white matter volum...	OMIM:616638
Greenberg Dysplasia	Rhizomelia, Disproportionate short-limb short stature, Abnormal lung lobation, Pancreatic islet-c...	OMIM:215140
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites...	OMIM:115197
Farber Disease	Recurrent upper respiratory tract infections, Atelectasis, Nodular pattern on pulmonary HRCT, Dif...	ORPHA:333
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Ventriculomegaly, Tapered finger, Short 4th toe, Short 3rd toe	OMIM:618707
Mulibrey Nanism	Ascites, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis	OMIM:253250
Coach Syndrome 2	Apneic episodes in infancy	OMIM:619111
Peroxisome Biogenesis Disorder 1A (Zellweger)	Adrenal hypoplasia, Death in childhood, Pulmonary hypoplasia	OMIM:214100
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef...	ORPHA:85451
Spastic Paraplegia 75, Autosomal Recessive	Ventriculomegaly, Corpus callosum atrophy	OMIM:616680
Oculocerebrofacial Syndrome, Kaufman Type	High, narrow palate, Abnormal lip morphology, Abnormal upper lip morphology, Microdontia, Smooth ...	ORPHA:2707
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Stillbirth, Pulmonary hypoplasia	OMIM:616300
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Femur fracture, Lateral ventricle dilatation	OMIM:612301
Vacterl With Hydrocephalus	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:3412
Familial Multiple Lipomatosis	Ventriculomegaly, Cerebral calcification, Hyperlipidemia, Hypoplasia of the corpus callosum, Bowi...	ORPHA:199276
20P12.3 Microdeletion Syndrome	Ventriculomegaly, Broad thumb, Broad hallux phalanx	ORPHA:261295
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Renal Agenesis	Pulmonary hypoplasia	ORPHA:411709
Hereditary Methemoglobinemia	Athetosis, Cyanosis	ORPHA:621
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Clinodactyly, Brachydactyly, Osteolysis involving bones of the upper limbs, Camptodactyly, Osteol...	ORPHA:88630
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Megabladder, Congenital	Fetal megacystis, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogenic kidneys	OMIM:618719
Orofaciodigital Syndrome Xix	Narrow palate, Carious teeth, Downturned corners of mouth, Lobulated tongue, Cleft soft palate, N...	OMIM:620107
Fibrodysplasia Ossificans Progressiva	Respiratory insufficiency, Respiratory failure, Elevated circulating alkaline phosphatase concent...	OMIM:135100
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of the dentition, Elevated circulating hepatic transaminase concentration, Abnormalit...	ORPHA:88618
Myasthenic Syndrome, Congenital, 20, Presynaptic	Apnea, Hypoventilation	OMIM:617143
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Interlob...	ORPHA:199241
Fructose-1,6-Bisphosphatase Deficiency	Dyspnea, Hyperventilation, Apnea	OMIM:229700
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic...	OMIM:601859
Rett Syndrome	Short stature, Intermittent hyperventilation, Apnea	OMIM:312750
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydranencephaly, Polymicrogyria, Agenesis of corpus callosum, Microcephaly, Hyd...	OMIM:225790
Congenital Heart Block	Intrauterine growth retardation, Pleural effusion, Cyanosis	ORPHA:60041
Holzgreve Syndrome	Intrauterine growth retardation, Aplasia/Hypoplasia of the lungs	ORPHA:2167
Cholesteryl Ester Storage Disease	Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly	ORPHA:75234
Pentalogy Of Cantrell	Pulmonary hypoplasia	ORPHA:1335
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Ventriculomegaly, Hypoplasia of the corpus callosum, Brachydactyly, Hip dysplasia, Clinodactyly o...	OMIM:618381
Microcephaly 26, Primary, Autosomal Dominant	Ventriculomegaly, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly, Pa...	OMIM:619179
Pelizaeus-Merzbacher Disease, Connatal Form	Difficulty walking, Inability to walk, Dystonic gait, Ataxia, Titubation, Respiratory failure	ORPHA:280210
Neurodevelopmental Disorder With Dystonia And Seizures	Cerebral cortical atrophy, Ventriculomegaly	OMIM:619922
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hepatocellular necrosis,...	OMIM:201475
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea, Maternal diabetes	ORPHA:45452
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Recurrent respiratory infections, Apnea, Growth delay	ORPHA:17
Craniofacial Dyssynostosis With Short Stature	Ventriculomegaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:218350
Atelosteogenesis Type Ii	Rhizomelic arm shortening, Rhizomelia, Pulmonary hypoplasia	ORPHA:56304
Pitt-Hopkins Syndrome	Self-injurious behavior, Failure of eruption of permanent teeth, Triangular nasal tip, Postnatal ...	ORPHA:2896
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Aplasia/Hypoplasia of the lungs, Abnormal lung lobation	ORPHA:2063
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Apnea	ORPHA:1129
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum, Hypocholesterolemia, Neonatal death	OMIM:618810
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,...	OMIM:602347
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
19P13.12 Microdeletion Syndrome	Toe clinodactyly, Ventriculomegaly, Sandal gap, Finger syndactyly, Hyperlipidemia, Hypoplasia of ...	ORPHA:254346
Sandestig-Stefanova Syndrome	Ventriculomegaly, Clinodactyly, Bilateral single transverse palmar creases, Hypoplasia of the cor...	OMIM:618804
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,...	OMIM:157900
17Q12 Microduplication Syndrome	Polyhydramnios, Microphthalmia	ORPHA:261272
Joubert Syndrome With Oculorenal Defect	Tachypnea, Apnea, Abnormality of the hypothalamus-pituitary axis	ORPHA:2318
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:618652
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Microcephaly, Ventriculomegaly, Hip dislocation	OMIM:619059
Lissencephaly, X-Linked, 2	Pachygyria, Ventriculomegaly, Lissencephaly, Agenesis of corpus callosum	OMIM:300215
Maternal Uniparental Disomy Of Chromosome 1	Ventriculomegaly, Epiphyseal stippling, Abnormal limb bone morphology, Single transverse palmar c...	ORPHA:251009
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Ascites	OMIM:614702
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e...	OMIM:300280
Combined Oxidative Phosphorylation Deficiency 37	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	OMIM:618329
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis	OMIM:612526
Breath-Holding Spells	Cyanosis	OMIM:607578
Leigh Syndrome	Generalized aminoaciduria, Hepatic failure, Methylmalonic aciduria, Abnormal circulating enzyme c...	ORPHA:506
Methylcobalamin Deficiency Type Cble	Ventriculomegaly, Clinodactyly, Microcephaly, Abnormal cerebral white matter morphology, Hydrocep...	ORPHA:2169
Bohring-Opitz Syndrome	Short stature, Intrauterine growth retardation, Recurrent respiratory infections, Apnea	ORPHA:97297
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret...	OMIM:194380
Kallmann Syndrome-Heart Disease Syndrome	Partial anosmia, Pulmonary artery hypoplasia, Renal agenesis, Cyanosis, Delayed puberty, Total an...	ORPHA:2326
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Xp21 Deletion Syndrome	Adrenal insufficiency, Primary adrenal insufficiency, Apneic episodes in infancy, Hypogonadotropi...	ORPHA:261476
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventriculomegaly, Genu valgum, Brachydactyly, Short long bone, Postaxial hand polydactyly, Hydroc...	OMIM:615630
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Hypospadias, Head-banging, Unilateral cleft lip, Thick lower lip vermilion, Recurrent urinary tra...	OMIM:619103
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Adrenocortical Carcinoma	Increased circulating cortisol level, Hyperaldosteronism, Increased urinary cortisol level, Incre...	ORPHA:1501
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Microcephaly, Ventriculomegaly, Micromelia	ORPHA:2772
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Basal ganglia calcification, Cerebral calcification, Dysplastic corpus callosum...	OMIM:617281
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmun...	OMIM:603909
Myotonia Fluctuans	Apnea	ORPHA:99734
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik...	OMIM:605282
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Diffuse white matter abnormalities, Ventriculomegaly, Abnormal periventricular white matter morph...	ORPHA:466934
Lipoyltransferase 1 Deficiency	Ventriculomegaly, Abnormal cerebral white matter morphology	OMIM:616299
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Epidermolysis Bullosa, Lethal Acantholytic	Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the 5th finger,...	OMIM:609638
Coffin-Siris Syndrome 11	Bifid uvula, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, High palate, Wid...	OMIM:618779
Obesity-Hypoventilation Syndrome	Cyanosis, Hypoventilation	OMIM:257500
Warburg Micro Syndrome 1	Short stature, Microphthalmia	OMIM:600118
Thoracoabdominal Syndrome	Pulmonary hypoplasia	OMIM:313850
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus...	ORPHA:93323
Pfeiffer Syndrome Type 2	Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus,...	ORPHA:93259
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Pierpont Syndrome	Short stature, Microphthalmia	OMIM:602342
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Renal insufficiency, Respiratory failure	ORPHA:83313
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:618495
Lethal Congenital Contracture Syndrome 2	Hydronephrosis, Akinesia, Respiratory failure	OMIM:607598
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Partial agenesis of the corpus callosum, Ventriculomegaly, Cavum septum pellucidum	OMIM:619074
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Smith-Magenis Syndrome	Abnormal forearm morphology, Ventriculomegaly, Hypercholesterolemia, Brachydactyly, Hypertriglyce...	OMIM:182290
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Camptodactyly, Microcephaly, Dysplastic corpus callosum, Rocker bottom foot	OMIM:604273
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Increased urinary 11-deoxycorticosterone level, Elevated circulating luteinizing hormone level, M...	ORPHA:90793
Scalp-Ear-Nipple Syndrome	Broad thumb, Finger syndactyly, Lateral ventricle dilatation, 2-3 toe syndactyly, Clinodactyly of...	OMIM:181270
Kcnq2-Related Epileptic Encephalopathy	Apnea	ORPHA:439218
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis, Truncal ataxia, Prominent nose, Growth delay	OMIM:614407
Zygomycosis	Colon perforation, Epistaxis, Nephritis, Atelectasis, Nasal congestion, Pleural effusion, Parench...	ORPHA:73263
Robinow Syndrome, Autosomal Dominant 2	Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Cleft soft pal...	OMIM:616331
Congenital Rubella Syndrome	Short stature, Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Netherton Syndrome	Emphysema, Recurrent respiratory infections, Short stature	ORPHA:634
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Joubert Syndrome With Renal Defect	Apnea, Abnormality of the hypothalamus-pituitary axis, Abnormal pattern of respiration	ORPHA:220497
Fryns Syndrome	Pulmonary hypoplasia	ORPHA:2059
Hyperekplexia 3	Apnea	OMIM:614618
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement, Nephrocalcinosis	OMIM:614473
Abetalipoproteinemia	Hepatic fibrosis, Broad-based gait, Elevated circulating hepatic transaminase concentration, Hypo...	ORPHA:14
Lenz-Majewski Hyperostotic Dwarfism	Cerebral cortical atrophy, Ventriculomegaly, Flared metaphysis, Aplasia/Hypoplasia of the middle ...	OMIM:151050
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Death in childhood, Tremor, Torticollis, Ataxia, Restlessness, Respiratory failure	OMIM:617186
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Neonatal asphyxia, Multiple bladder diverticula, Widely spaced teeth, Microdontia, Proteinuria, H...	ORPHA:2728
Alpha-1-Antitrypsin Deficiency	Emphysema, Bronchiectasis, Bronchitis	ORPHA:60
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Lissencephaly	OMIM:614833
Rubinstein-Taybi Syndrome 2	Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Short first metatarsal, Micro...	OMIM:613684
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Pulmonary hypoplasia	OMIM:614080
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short stature, Intrauterine growth retardation, Rhizomelia, Microphthalmia	OMIM:300863
Mitochondrial Trifunctional Protein Deficiency	Tip-toe gait, Respiratory insufficiency, Cholestasis, Lethargy, Chronic hepatic failure, Respirat...	ORPHA:746
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Severe short stature, Rhizomelia, Disproportionate short stature, Respiratory distress, Neonatal ...	OMIM:616482
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Ventilator dependence with inability to wean, Urinary incontinence, Respiratory failure	OMIM:604320
Cerebrooculofacioskeletal Syndrome 2	Intrauterine growth retardation, Growth delay, Microphthalmia	OMIM:610756
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Ventriculomegaly, Patellar hypoplasia, Hypopituitarism, Preaxial...	ORPHA:1827
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Abno...	ORPHA:79404
Spondyloenchondrodysplasia	Hypoplastic ilia, Short distal phalanx of finger, Ventriculomegaly, Decreased response to growth ...	ORPHA:1855
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Ventriculomegaly, Micromelia, Femoral bowing, Bowing of the long bones, Abnorma...	ORPHA:1860
Congenital Total Pulmonary Venous Return Anomaly	Mixed total anomalous pulmonary venous connection, Paroxysmal dyspnea, Respiratory distress, Cyan...	ORPHA:99125
Encephalopathy, Ethylmalonic	Petechiae, Death in infancy, Ataxia, Acrocyanosis, Ethylmalonic aciduria	OMIM:602473
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Cerebral cortical atrophy, Lateral ventricle dilatation, Elbow flexion contracture, Secondary mic...	OMIM:300868
Meckel Syndrome, Type 2	Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly	OMIM:603194
Distal Deletion 15Q	Postnatal growth retardation, Intrauterine growth retardation, Decreased serum insulin-like growt...	ORPHA:1596
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Short distal phalanx of finger, Finger syndactyly, Camptodactyly of finger, Arachnodactyly, Micro...	ORPHA:2994
Hypocomplementemic Urticarial Vasculitis	Emphysema, Dyspnea, Pleural effusion	ORPHA:36412
Recombinant Chromosome 8 Syndrome	Joint contracture of the hand, Ventriculomegaly, Cerebral atrophy, Secondary microcephaly, Campto...	OMIM:179613
Weaver Syndrome	Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Talipes equinovarus, Large h...	ORPHA:3447
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Microphthalmia	OMIM:611561
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Paroti...	ORPHA:51636
Ulbright-Hodes Syndrome	Respiratory distress, Postnatal growth retardation, Birth length less than 3rd percentile, Pneumo...	ORPHA:3404
Combined Oxidative Phosphorylation Deficiency 3	Respiratory insufficiency, Death in childhood, Death in infancy, Elevated circulating creatine ki...	OMIM:610505
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Right atrial enlargeme...	OMIM:616028
Marbach-Schaaf Neurodevelopmental Syndrome	Enuresis nocturna, Hemidystonia, Downturned corners of mouth, Recurrent hand flapping, Submucous ...	OMIM:619680
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Hyperventilation, Apnea	OMIM:617903
Mitochondrial Complex I Deficiency, Nuclear Type 19	Secondary microcephaly, Ventriculomegaly	OMIM:618241
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Ventriculomegaly, Cerebral white matter hypoplasia, Periventricular white matter hyperintensities...	ORPHA:500533
Prune Belly Syndrome	Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs	ORPHA:2970
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Blomstrand Lethal Chondrodysplasia	Rhizomelia, Neonatal short-limb short stature, Pulmonary hypoplasia	ORPHA:50945
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Intellectual Developmental Disorder, X-Linked 12	Ventriculomegaly, Hip subluxation, Abnormal cerebral white matter morphology, Microcephaly	OMIM:300957
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ...	OMIM:615234
Hereditary Motor And Sensory Neuropathy, Type Iic	Urinary incontinence, Respiratory failure, Intercostal muscle weakness, Urinary urgency	OMIM:606071
Chand Syndrome	Depressed nasal bridge, Hydroureter, Atelectasis, Ataxia, Bifid tongue, Cleft palate	ORPHA:1401
Martsolf Syndrome 1	Enlarged sylvian cistern, Ventriculomegaly, Broad femoral neck, Short toe, Slender ulna, Avascula...	OMIM:212720
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Limb-Mammary Syndrome	Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Split foot, Syndactyly	OMIM:603543
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul...	ORPHA:64743
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Ankyloglossia, Cleft soft palate, Open mouth, Ataxia, High, narrow palate, Downturned corners of ...	OMIM:619950
Cholera	Hyperventilation, Tachypnea, Miscarriage, Aspiration pneumonia	ORPHA:173
Marshall-Smith Syndrome	Recurrent upper respiratory tract infections, Aspiration pneumonia, Apnea, Death in childhood, Sh...	OMIM:602535
Pyruvate Dehydrogenase Deficiency	Dyspnea, Intrauterine growth retardation, Tachypnea, Growth delay	ORPHA:765
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Ventriculomegaly	OMIM:300858
2Q31.1 Microdeletion Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Toe syndactyly, Finger syndactyly, Sandal gap, Campt...	ORPHA:251014
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hepatic steatosis, Cardiomegaly, H...	ORPHA:42
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Atelectasis, Hepatocellular necrosis, Respiratory insufficiency, Hepatosplenomegaly, Death in chi...	OMIM:618278
Joubert Syndrome With Ocular Defect	Apnea, Abnormality of the hypothalamus-pituitary axis, Abnormal pattern of respiration	ORPHA:220493
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly	OMIM:619051
Combined Oxidative Phosphorylation Deficiency 54	Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities	OMIM:619737
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Intrauterine growth retardation, Oligohydramnios, Encephalocele, Microphthalmia	ORPHA:228390
Hoxha-Aliu Syndrome	Short fifth metatarsal, Short distal phalanx of finger, Abnormal epiphysis morphology, Short 4th ...	OMIM:620662
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol...	OMIM:615986
Buratti-Harel Syndrome	Bifid uvula, Recurrent pneumonia, Velopharyngeal insufficiency, Submucous cleft hard palate, High...	OMIM:619314
Lethal Congenital Contracture Syndrome 9	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:616503
Oculogastrointestinal Neurodevelopmental Syndrome	Short stature, Unilateral microphthalmos, Bilateral microphthalmos	OMIM:619318
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Ventriculomegaly, Broad thumb, Overlapping toe, Hypoplasia of the corpus callosum, Down-sloping s...	OMIM:617452
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol...	OMIM:266200
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst, Respiratory failure, Death in infancy	OMIM:614862
Oculofaciocardiodental Syndrome	Tooth malposition, Peripheral pulmonary artery stenosis, Abnormality of the dentition, Delayed er...	ORPHA:2712
Congenital Muscular Dystrophy With Cerebellar Involvement	Diffuse white matter abnormalities, Ventriculomegaly, Decreased thalamic volume, Polymicrogyria, ...	ORPHA:370959
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Dilatation of the renal pelvis, Dilatation of the bladder, ...	OMIM:265380
Congenital Disorder Of Glycosylation, Type Ij	Apnea	OMIM:608093
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Ventriculomegaly, Single transverse palmar crease, 2-3 toe syndactyly, Radioulnar synostosis, Mic...	OMIM:614701
Central Hypoventilation Syndrome, Congenital, 1	Central hypoventilation, Nocturnal hypoventilation, Apnea, Hypoventilation, Hypoxemia, Hypercapnia	OMIM:209880
Cutis Laxa, Autosomal Recessive, Type Iie	Deep palmar crease, Brachydactyly, Genu varum, Clinodactyly of the 5th finger, Hip dislocation, S...	OMIM:619451
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Apert Syndrome	Delayed epiphyseal ossification, Broad distal phalanx of the thumb, Broad thumb, Synostosis of ca...	OMIM:101200
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Arachnodactyly, Microcephaly, Clinodactyly, Syndactyly	OMIM:619092
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Short 5th finger, Ventriculomegaly, Polymicrogyria, Abnormal periventricular white matter morphol...	ORPHA:500159
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan...	ORPHA:348
Intellectual Developmental Disorder, Autosomal Dominant 21	Microcephaly, Ventriculomegaly, Single transverse palmar crease	OMIM:615502
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Congenital Left Ventricular Aneurysm	Apnea	ORPHA:1055
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Leukoencephalopathy, Small basal ganglia, Ventriculomegaly, Aplasia/Hypoplasia of the corpus call...	ORPHA:88639
Cleft Palate, Deafness, And Oligodontia	Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth	OMIM:216300
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:620210
Smith-Magenis Syndrome	Ventriculomegaly, Toe syndactyly, Corticospinal tract hypoplasia, Aplasia/Hypoplasia of the corpu...	ORPHA:819
X-Linked Lissencephaly With Abnormal Genitalia	Pachygyria, Microcephaly, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:452
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Postnatal growth retardation, Intrauterine growth retardation, Pulmonary hy...	ORPHA:83617
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:300958
Autosomal Recessive Malignant Osteopetrosis	Pulmonary artery stenosis, Recurrent respiratory infections, Apnea, Growth delay	ORPHA:667
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia	OMIM:308350
Camptobrachydactyly	Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly	OMIM:114150
Glycine Encephalopathy With Normal Serum Glycine	Hand clenching, Ventriculomegaly, Elbow flexion contracture, Overlapping toe, Hip contracture, Hy...	OMIM:617301
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Central apnea	OMIM:615157
Immunodeficiency 89 And Autoimmunity	Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening	OMIM:619632
Linear Skin Defects With Multiple Congenital Anomalies 2	Short stature, Microphthalmia	OMIM:300887
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly, Abnormal urinary color	ORPHA:90037
Orofaciodigital Syndrome Type 4	Severe short stature, Intrauterine growth retardation, Bilateral lung agenesis, Primary adrenal i...	ORPHA:2753
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Porta...	ORPHA:824
Cranioectodermal Dysplasia	Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Bra...	ORPHA:1515
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Multiple bladder diverticula, Urethral...	ORPHA:90349
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Apnea	OMIM:210200
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Wide nasal bridge, Hypoplastic nasal tip, Cyanosis, High palate	ORPHA:3304
Necrotizing Enterocolitis	Apnea, Cyanosis	ORPHA:391673
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Ventriculomegaly, Decreased response to growth hormone stimulation test, Hypoplasia of the corpus...	OMIM:617260
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Saul-Wilson Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Ventriculomegaly, Overtubulat...	OMIM:618150
Amish Lethal Microcephaly	Hepatomegaly, Cleft soft palate, Organic aciduria, Death in infancy	ORPHA:99742
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Neonatal death, Pulmonary hypoplasia	OMIM:617925
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Respiratory in...	OMIM:613658
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Respiratory insufficiency, Hyperechogenic kidneys, Proteinuria, Polyuria,...	OMIM:613845
Combined Oxidative Phosphorylation Deficiency 59	Apnea	OMIM:620646
Myotonia, Potassium-Aggravated	Apneic episodes in infancy	OMIM:608390
Cardiocranial Syndrome, Pfeiffer Type	Short stature, Episodic tachypnea, Intrauterine growth retardation, Growth delay	ORPHA:2872
Acrorenal-Mandibular Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:200980
Bresek Syndrome	Intrauterine growth retardation, Optic nerve hypoplasia, Growth delay, Microphthalmia	ORPHA:85284
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Basilicata-Akhtar Syndrome	Ventriculomegaly, Single transverse palmar crease, Adducted thumb, Camptodactyly, Short foot, Sho...	OMIM:301032
Nevus Comedonicus Syndrome	Microcephaly, Toe syndactyly, Finger syndactyly, Preaxial polydactyly	ORPHA:64754
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent ...	OMIM:606003
Microphthalmia With Limb Anomalies	Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Elbow disloc...	ORPHA:1106
Atrial Septal Defect, Ostium Primum Type	Pulmonary artery dilatation, Cyanosis, Tachypnea, Exertional dyspnea, Dyspnea, Recurrent respirat...	ORPHA:99106
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Cerebral cortical atrophy, Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Simplifie...	OMIM:617669
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Camptodactyly, Ventriculomegaly, Overlapping toe, Dysplastic corpus callosum	ORPHA:363444
Aicardi-Goutieres Syndrome 1	Erythema, Inability to walk, Petechiae, Self-mutilation, Prolonged neonatal jaundice, Multiple ga...	OMIM:225750
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Seckel Syndrome 2	Short stature, Growth delay, Microphthalmia	OMIM:606744
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Tafro Syndrome	Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Anemia, Lymphadenop...	ORPHA:457077
Illum Syndrome	Apnea	OMIM:208155
Meier-Gorlin Syndrome 7	Short stature, Growth delay, Pulmonary hypoplasia	OMIM:617063
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology	OMIM:266500
Mitochondrial Complex I Deficiency, Nuclear Type 2	Apneic episodes in infancy, Apnea, Hypercapnia	OMIM:618222
Filippi Syndrome	2-4 toe syndactyly, Finger clinodactyly, Single transverse palmar crease, Microcephaly, Cutaneous...	OMIM:272440
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short 5th finger, Short distal phalanx of finger, Ventriculomegaly, Cerebral atrophy, Long thumb,...	OMIM:220500
Fatal Familial Insomnia	Apnea	OMIM:600072
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Pulmonary hypoplasia	OMIM:616546
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Carnitine Palmitoyltransferase I Deficiency	Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Hepatic steatosis, Cardiomegaly, Hepato...	OMIM:255120
Otopalatodigital Syndrome Type 2	Pulmonary hypoplasia	ORPHA:90652
Lissencephaly Due To Lis1 Mutation	Abnormal corpus callosum morphology, Anterior predominant thick cortex pachygyria, Ventriculomega...	ORPHA:95232
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Pulmonary hypoplasia	OMIM:271520
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Tuberous Sclerosis Complex	Self-injurious behavior, Chronic kidney disease, Stage 5 chronic kidney disease, Pulmonary lympha...	ORPHA:805
Malignant Atrophic Papulosis	Intestinal fistula, Pleural effusion, Abnormality of the lower urinary tract, Peritonitis, Respir...	ORPHA:679
Nijmegen Breakage Syndrome	Recurrent pneumonia, Anal stenosis, Recurrent respiratory infections, Attention deficit hyperacti...	ORPHA:647
Perry Syndrome	Short stepped shuffling gait, Inappropriate behavior, Central hypoventilation, Akinesia, Hypovent...	OMIM:168605
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Nephrotic syndrome	OMIM:617713
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Postnatal growth retardation, Death in childhood, Death in infancy, Tachypnea, Short stature	OMIM:613320
Trichorhinophalangeal Syndrome Type 2	Ventriculomegaly, Avascular necrosis of the capital femoral epiphysis, Genu valgum, Bilateral sin...	ORPHA:502
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1438
Aminopterin/Methotrexate Embryofetopathy	Micromelia, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of t...	ORPHA:1908
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaric aciduria, Death in infancy, Neonatal death, Respiratory arrest, Tremor, 3-Methyl...	OMIM:617248
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Cerebral cortical atrophy, Ventriculomegaly, Broad thumb, Toe syndactyly, Single transverse palma...	OMIM:619720
Pitt-Hopkins Syndrome	Short fifth metatarsal, Small hand, Ventriculomegaly, Clinodactyly, Prominent fingertip pads, Sec...	OMIM:610954
Methionine Malabsorption Syndrome	Tachypnea	OMIM:250900
Multiple Pterygium Syndrome, Escobar Variant	Short stature, Pulmonary hypoplasia	OMIM:265000
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Down-sloping shou...	ORPHA:392
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Erlenmeyer flask deformity of the femurs, Cerebral calcification, Agenesis of c...	OMIM:618476
Malan Syndrome	Ventriculomegaly, Coxa valga, Hypoplasia of the corpus callosum, Long fingers	OMIM:614753
Pontocerebellar Hypoplasia, Type 7	Apnea	OMIM:614969
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Microphthalmia	ORPHA:93267
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Splenomegaly, Pericarditis	ORPHA:85414
Neonatal Lupus Erythematosus	Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancytopenia, Abnormality of ...	ORPHA:398124
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hydronephrosis, Respiratory failure, Tremor, Exaggerated startle response	OMIM:620327
Acrootoocular Syndrome	Small hypothenar eminence, Short toe, Sandal gap, Short finger, Decreased response to growth horm...	ORPHA:2980
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Ring Chromosome 21 Syndrome	Small hand, Clinodactyly, Narrow palm, Microcephaly, Syndactyly	ORPHA:1445
Alg9-Cdg	Abnormal lung lobation, Hypoplasia of the ovary, Rhizomelia, Pulmonary hypoplasia	ORPHA:79328
Charcot-Marie-Tooth Disease, Type 4B3	Microcephaly, Syndactyly	OMIM:615284
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ...	OMIM:300963
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Mitral valve p...	OMIM:602782
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Chromosome 19P13.13 Deletion Syndrome	Microcephaly, Ventriculomegaly	OMIM:613638
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Progressive ventriculomegaly, Ventriculomegaly, Absent thumb, Lateral ventricle dilatation, Slend...	ORPHA:500150
Trisomy 13	Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Hy...	ORPHA:3378
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair...	OMIM:618935
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ...	ORPHA:1457
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Ventriculomegaly, Camptodactyly of finger, Bilateral single transverse palmar creases, Microcepha...	ORPHA:2083
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Xerostomia, Ureterocele, Absence of Stensen duct, Ectodermal dysplasia, Duplicated collecting sys...	OMIM:129900
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Ventriculomegaly, Periventricular leukomalacia, Hip dislocation, Hypoplasia of the corpus callosum	OMIM:618547
Gracile Bone Dysplasia	Ascites, Aniridia, Short stature, Microphthalmia	OMIM:602361
Orofacial Cleft 13	Cleft soft palate, Oligodontia	OMIM:613857
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Monosomy 18P	Short stature, Lymphedema, Microphthalmia	ORPHA:1598
Intellectual Developmental Disorder, Autosomal Dominant 51	Talipes equinovarus, Long toe, Ventriculomegaly	OMIM:617788
Poland Syndrome	Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Syndactyly	OMIM:173800
Ethylene Glycol Poisoning	Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Pulmonary edema, Tachypnea	ORPHA:31826
Geleophysic Dysplasia 3	Pneumonia, Long philtrum, Thick vermilion border, Hepatomegaly, Respiratory failure	OMIM:617809
Metatropic Dysplasia	Respiratory failure, Respiratory insufficiency	OMIM:156530
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal death, Hip dislo...	OMIM:146510
Orofaciodigital Syndrome Xvi	Apnea	OMIM:617563
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Oligohydramnios, Microphthalmia	OMIM:619053
Trisomy 1Q	Ventriculomegaly, Toe syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Agenesis of...	ORPHA:261344
Meckel Syndrome, Type 4	Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly	OMIM:611134
Pontocerebellar Hypoplasia, Type 2B	Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Single transverse palmar c...	OMIM:612389
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Isolated Split Hand-Split Foot Malformation	Oligodactyly, Absent hand, Split hand, Finger syndactyly	ORPHA:2440
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Finger aplasia, Absent toe, Clinodactyly of the 2nd finger, Clinodactyly of the 3rd finger, Clino...	OMIM:620663
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Microcephaly, Ventriculomegaly, Cerebral calcification	ORPHA:1933
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina...	OMIM:605432
Glass Syndrome	Short stature, Apnea	OMIM:612313
Pancreatic And Cerebellar Agenesis	Apnea, Diabetes mellitus, Death in infancy, Severe intrauterine growth retardation	OMIM:609069
Microcephaly 30, Primary, Autosomal Recessive	Clinodactyly of the 5th finger, Ventriculomegaly, Primary microcephaly, Cerebral cortical atrophy	OMIM:620183
Intellectual Developmental Disorder, Autosomal Dominant 73	Hydroureter, Tip-toe gait, Widely spaced teeth, Thick lower lip vermilion, Ankyloglossia, Pica, C...	OMIM:620450
Adams-Oliver Syndrome	Short distal phalanx of finger, Finger syndactyly, Absent hand, Periventricular leukomalacia, Abn...	ORPHA:974
Cerebellofaciodental Syndrome	Ventriculomegaly, Slender long bone, Proximal femoral epiphysiolysis, Genu valgum, Single transve...	OMIM:616202
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Glutaryl-Coa Dehydrogenase Deficiency	Ventriculomegaly, T2 hypointense basal ganglia, Open operculum, Abnormal basal ganglia morphology...	ORPHA:25
Listeriosis	Pneumonia, Acute kidney injury, Pyelonephritis, Cholecystitis, Tremor, Peritonitis, Hepatic granu...	ORPHA:533
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short stature, Intrauterine growth retardation, Rhizomelia, Microphthalmia	ORPHA:163966
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Hematuria...	ORPHA:549
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Timothy Syndrome	Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect	OMIM:601005
Neu-Laxova Syndrome 2	Ventriculomegaly, Toe syndactyly, Finger syndactyly, Microcephaly, Rocker bottom foot, Lissencephaly	OMIM:616038
Baraitser-Winter Syndrome 1	Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Duplication of phalanx of hallux, Pa...	OMIM:243310
Huntington Disease-Like 1	Abnormal shoulder morphology, Cerebral cortical atrophy, Ventriculomegaly, Abnormal basal ganglia...	ORPHA:157941
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Prolonged neona...	OMIM:185000
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Tachypnea	OMIM:620085
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Dysplastic corpus callosum, Microcephaly, Simplified gyral pattern	OMIM:620001
Orofaciodigital Syndrome Type 6	Short stature, Episodic tachypnea, Apnea, Growth delay	ORPHA:2754
Smith-Lemli-Opitz Syndrome	Precocious puberty, Abnormal lung lobation, Hypocholesterolemia, Intrauterine growth retardation,...	OMIM:270400
Fetal Akinesia Deformation Sequence 1	Intrauterine growth retardation, Stillbirth, Pulmonary hypoplasia	OMIM:208150
Multifocal Atrial Tachycardia	Dyspnea, Tachypnea, Hypothyroidism	ORPHA:3282
Multiple Sulfatase Deficiency	Ventriculomegaly, Broad thumb, Broad hallux, Cerebral atrophy, Abnormal periventricular white mat...	OMIM:272200
Axial Mesodermal Dysplasia Spectrum	Short stature, Aplasia/Hypoplasia of the lungs	ORPHA:1834
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Hepatic steatosis, C...	ORPHA:228308
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:464329
Chromosome 1P36 Deletion Syndrome, Distal	Short 5th finger, Leukoencephalopathy, Cerebral cortical atrophy, Lateral ventricle dilatation, C...	OMIM:607872
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Apnea	OMIM:618056
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Chronic kidney disease, Acute kidney injury, Elevated circulating hepatic transaminase...	ORPHA:340
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Skraban-Deardorff Syndrome	Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:617616
Congenital Fibrinogen Deficiency	Bruising susceptibility, Volvulus, Subcutaneous hemorrhage, Cyanosis, Micropenis	ORPHA:335
Amyotrophic Lateral Sclerosis	Tongue atrophy, Xerostomia, Dysphagia, Respiratory failure, Agitation	ORPHA:803
Laurence-Moon Syndrome	Hand polydactyly, Brachydactyly, Finger syndactyly, Bilateral single transverse palmar creases	ORPHA:2377
Acromelic Frontonasal Dysostosis	Ventriculomegaly, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Hypopituitarism, P...	OMIM:603671
Sandhoff Disease	Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal...	OMIM:268800
Multiple Mitochondrial Dysfunctions Syndrome 7	Anteverted nares, Agitation, Cyanosis, Lethargy, Hyperactivity, Impulsivity	OMIM:620423
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Lissencephaly, Ventriculomegaly, Polymicrogyria, Type II lissencephaly, Hypoplasia of the corpus ...	OMIM:614643
Williams-Beuren Region Duplication Syndrome	Decreased response to growth hormone stimulation test, Ventriculomegaly, Hydrocephalus, Hypoplasi...	OMIM:609757
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne...	OMIM:226990
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Congenital Disorder Of Glycosylation, Type Ii	Microcephaly, Ventriculomegaly, Thin corpus callosum, Focal T2 hyperintense basal ganglia lesion	OMIM:607906
Rhizomelic Chondrodysplasia Punctata, Type 2	Submucous cleft hard palate, High palate, Decreased circulating plasmalogen concentration, Reduce...	OMIM:222765
Bacterial Toxic-Shock Syndrome	Pneumonia, Tachypnea, Respiratory tract infection, Respiratory distress	ORPHA:36234
Poliomyelitis	Inability to walk, Paralytic ileus, Anorexia, Dysphagia, Respiratory failure, Agitation, Respirat...	ORPHA:2912
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Diaphragmatic Hernia 4, With Cardiovascular Defects	Pulmonary artery hypoplasia, Aortopulmonary window, Pulmonary hypoplasia	OMIM:620025
Alg8-Cdg	Leukoencephalopathy, Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus callos...	ORPHA:79325
Cirrhotic Cardiomyopathy	Ascites, Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Cirrhosis, Jaundice...	ORPHA:57777
Frontonasal Dysplasia 1	Cranium bifidum occultum, Anterior basal encephalocele, Microphthalmia	OMIM:136760
Developmental And Epileptic Encephalopathy 80	Short distal phalanx of finger, Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callos...	OMIM:618580
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Pulmonary hypoplasia	ORPHA:1112
Joubert Syndrome With Hepatic Defect	Apnea, Abnormality of the hypothalamus-pituitary axis, Abnormal pattern of respiration	ORPHA:1454
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion	OMIM:239850
Hydrolethalus	Polyhydramnios, Anencephaly, Anophthalmia, Microphthalmia	ORPHA:2189
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Spondylo-Ocular Syndrome	Short stature, Disproportionate short-trunk short stature, Aplasia/Hypoplasia of the lens, Microp...	ORPHA:85194
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae, Ethylmalonic aciduria, Ataxia	ORPHA:51188
Walker-Warburg Syndrome	Lissencephaly, Ventriculomegaly, Abnormal cortical gyration, Polymicrogyria, Metatarsus valgus, A...	ORPHA:899
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatic failure, Respiratory insufficiency, Splenomegaly, Death in infancy, 3-hydroxydicarboxylic...	OMIM:252010
Wolman Disease	Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells	ORPHA:75233
Restrictive Dermopathy 1	Intrauterine growth retardation, Neonatal death, Adrenal hypoplasia, Stillbirth, Pulmonary hypopl...	OMIM:275210
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Hydrocephalus, Dandy-Walker malformation, ...	OMIM:220210
Gillespie Syndrome	Ventriculomegaly, Thin corpus callosum	OMIM:206700
Galloway-Mowat Syndrome 9	Cerebral cortical atrophy, Ventriculomegaly, Secondary microcephaly, Microcephaly, Thin corpus ca...	OMIM:619603
Oculopalatocerebral Syndrome	Short stature, Microphthalmia	OMIM:257910
Tetraamelia Syndrome 1	Peripheral pulmonary vessel aplasia, Adrenal gland agenesis, Pulmonary hypoplasia	OMIM:273395
Robinow Syndrome, Autosomal Recessive 2	Abnormality of the dentition, Long philtrum, Cleft soft palate, Gingival overgrowth, Absent uvula...	OMIM:618529
Semilobar Holoprosencephaly	Central hypothyroidism, Abnormal pattern of respiration, Aspiration pneumonia, Decreased response...	ORPHA:220386
Combined Oxidative Phosphorylation Deficiency 25	Ventriculomegaly, Cerebral atrophy, Syndactyly	OMIM:616430
Alobar Holoprosencephaly	Central hypothyroidism, Abnormal pattern of respiration, Aspiration pneumonia, Decreased response...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central hypothyroidism, Abnormal pattern of respiration, Aspiration pneumonia, Decreased response...	ORPHA:93926
Lobar Holoprosencephaly	Central hypothyroidism, Abnormal pattern of respiration, Aspiration pneumonia, Decreased response...	ORPHA:93924
Long-Olsen-Distelmaier Syndrome	Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect	OMIM:620609
Microcephaly 20, Primary, Autosomal Recessive	Short stature, Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Grange Syndrome	Short palm, Syndactyly	ORPHA:79094
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Microphthalmia	OMIM:601794
Bohring-Opitz Syndrome	Short toe, Overlapping toe, Mesomelic/rhizomelic limb shortening, Hypoplasia of the corpus callos...	OMIM:605039
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Cya...	OMIM:233450
Spondylodysplastic Ehlers-Danlos Syndrome	Short stature, Agenesis of pineal gland, Hypogonadism, Pulmonary hypoplasia	ORPHA:536471
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:611490
Smith-Lemli-Opitz Syndrome	Rhizomelia, Abnormal lung lobation, Intrauterine growth retardation, Short stature, Growth delay,...	ORPHA:818
Biotinidase Deficiency	Tachypnea, Apnea	OMIM:253260
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Hand clenching, Clubbing of toes, Elbow dislocation, Arachnodactyly, Microcephaly, Colpocephaly, ...	OMIM:620083
Complete Atrioventricular Septal Defect	Recurrent pneumonia, Tachypnea, Cyanosis, Intercostal retractions	ORPHA:1329
14Q22Q23 Microdeletion Syndrome	Ventriculomegaly, Toe syndactyly, Finger syndactyly, Short 5th metacarpal, Bilateral single trans...	ORPHA:264200
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Ventriculomegaly, Reduced cerebral white matter volume, Short femoral neck, Flared metaphysis, Ir...	OMIM:610442
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Aplasia/hypoplasia of the humeru...	ORPHA:3320
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventriculomegaly, Postaxial foot polydactyly, Overlapping fingers, Hypoplasia of the corpus callo...	OMIM:301056
Osteoporosis-Pseudoglioma Syndrome	Short stature, Microphthalmia	ORPHA:2788
Beta-Thalassemia Intermedia	Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, ...	ORPHA:231222
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolyti...	OMIM:301078
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure, Ataxia	ORPHA:1861
Congenital Disorder Of Glycosylation, Type Iil	Ventriculomegaly, Abnormal cortical gyration, Cerebral atrophy, Hypoplasia of the corpus callosum...	OMIM:614576
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Toe clinodactyly, Broad thumb, Monkey wrench femoral neck, Single transvers...	OMIM:615777
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Portal hypertension, Splenomegaly, Cardiomegaly, Cirrhosis, Cholangiocarcinoma, H...	ORPHA:465508
Aplasia Cutis Congenita	Toe syndactyly, Finger syndactyly	ORPHA:1114
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone ossification, Abnormal...	ORPHA:166119
Chromosome 2P16.1-P15 Deletion Syndrome	Joint contracture of the hand, Ventriculomegaly, Cerebral atrophy, Pachygyria, Hypoplasia of the ...	OMIM:612513
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Ventriculomegaly, Small hand, Decreased response to growth hormone stimulation test, Hypoplasia o...	OMIM:241410
Plaa-Associated Neurodevelopmental Disorder	Leukoencephalopathy, Ventriculomegaly, Postaxial foot polydactyly, Abnormal cortical gyration, Si...	ORPHA:521426
Mckusick-Kaufman Syndrome	Pulmonary hypoplasia	OMIM:236700
Fontaine Progeroid Syndrome	Intrauterine growth retardation, Death in infancy, Neonatal death, Pneumothorax, Short stature, R...	OMIM:612289
Multiple Benign Circumferential Skin Creases On Limbs	Short stature, Umbilical hernia, Edema, Microphthalmia	ORPHA:2505
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Long philtrum, Hepatosplenomegaly, Gingival overgrowth, Splenomegaly, Stillbirth...	OMIM:259720
Roifman-Chitayat Syndrome	Ventriculomegaly, Short metatarsal, Cone-shaped epiphysis, Short metacarpal	OMIM:613328
Intellectual Developmental Disorder, Autosomal Dominant 64	Ventriculomegaly, Prominent fingertip pads, Single transverse palmar crease, Microcephaly, Clinod...	OMIM:619188
Campomelic Dysplasia	Recurrent upper respiratory tract infections, Neonatal short-limb short stature, Disproportionate...	OMIM:114290
Aarskog-Scott Syndrome	Short 5th finger, Elevated circulating luteinizing hormone level, Clinodactyly, Radial deviation ...	OMIM:305400
Leukodystrophy, Hypomyelinating, 12	Secondary microcephaly, Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:616683
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom...	OMIM:602450
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,...	ORPHA:30
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of...	OMIM:617666
Apert Syndrome	Ventriculomegaly, Broad thumb, Toe syndactyly, Micromelia, Finger syndactyly, Absent septum pellu...	ORPHA:87
Fryns Syndrome	Chylothorax, Stillbirth, Pulmonary hypoplasia	OMIM:229850
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Smooth Muscle Dysfunction Syndrome	Tachypnea, Pulmonary artery dilatation	OMIM:613834
Cenani-Lenz Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Short thumb, Ol...	ORPHA:3258
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi...	OMIM:615067
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Hypoplasia of the corpus callosum, Colpocephaly, Hip dysplasia, Proximal placem...	ORPHA:261250
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Double Outlet Left Ventricle	Pulmonary artery stenosis, Tachypnea, Cyanosis	ORPHA:3427
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Single transverse palmar c...	OMIM:616449
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Mucopolysacchariduria, Cardiomegaly	ORPHA:349
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 5th finger, Broad thumb, Sandal gap, Broad hallux, 2-3 toe syndactyly, Microcephaly, Cutane...	OMIM:600987
Lmna-Related Cardiocutaneous Progeria Syndrome	Emphysema, Abnormality of the pulmonary artery, Hypercholesterolemia, Hypertriglyceridemia, Pulmo...	ORPHA:363618
Schilbach-Rott Syndrome	Bifid uvula, Narrow mouth, Submucous cleft hard palate, Attention deficit hyperactivity disorder,...	OMIM:164220
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia of the lungs, Abnormal lung lobation	ORPHA:3301
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Bifid uvula, Cleft palate, Submucous cleft hard palate	ORPHA:2521
Buerger Disease	Livedo reticularis, Acrocyanosis	ORPHA:36258
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Congenital hypothyroidism, Apnea	OMIM:617527
Tetraamelia Syndrome 2	Bilateral lung agenesis, Hypoplastic pulmonary veins	OMIM:618021
3-Hydroxy-3-Methylglutaric Aciduria	Tachypnea, Apnea	ORPHA:20
Keppen-Lubinsky Syndrome	Microcephaly, Lateral ventricle dilatation	OMIM:614098
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Head titubation, Respiratory failure, Vestibular areflexia	ORPHA:3240
American Trypanosomiasis	Cardiomyopathy, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly	ORPHA:3386
Bcard Syndrome	Ventriculomegaly, Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia...	OMIM:612394
Cutis Laxa, Autosomal Dominant 1	Emphysema, Peripheral pulmonary artery stenosis, Dyspnea, Bronchiectasis	OMIM:123700
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea, Growth delay	ORPHA:79242
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr...	OMIM:224120
Biotinidase Deficiency	Respiratory distress, Hyperventilation, Apnea	ORPHA:79241
Schinzel-Giedion Syndrome	Recurrent pneumonia, Central hypothyroidism, Respiratory distress, Streak ovary, Pulmonary hypopl...	ORPHA:798
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea	ORPHA:159
Dpm1-Cdg	Ventriculomegaly, Sandal gap, Cerebral atrophy, Secondary microcephaly, Long hallux, Hypoplasia o...	ORPHA:79322
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,...	ORPHA:73230
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebral cortical atrophy, Ventriculomegaly, Cerebral atrophy, Microcephaly, Corpus callosum atrophy	OMIM:619272
Houge-Janssens Syndrome 3	Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum, Single transverse palmar crease	OMIM:618354
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Tachypnea	OMIM:616501
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Hepatic steatosis, Ventricular septa...	OMIM:614921
Wieacker-Wolff Syndrome, Female-Restricted	Ventriculomegaly, Radial deviation of the hand, Hip contracture, Talipes equinovarus, Microcephal...	OMIM:301041
Polysyndactyly With Cardiac Malformation	Duplication of phalanx of hallux, Syndactyly, Stillbirth, Preaxial hand polydactyly	OMIM:263630
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland, Ventriculomegaly, Hydrocephalus	OMIM:614195
Nocardiosis	Pneumonia, Emphysema, Respiratory distress, Pleural effusion, Abnormality of the adrenal glands, ...	ORPHA:31204
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly	OMIM:235555
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Cerebral cortical atrophy, Syndactyly	ORPHA:404451
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Bifid uvula, Hyperactivity, Submucous cleft hard palate	OMIM:619239
Intellectual Developmental Disorder, Autosomal Dominant 54	Short stature, Hyperventilation, Apnea, Growth delay	OMIM:617799
Brachycephaly, Trichomegaly, And Developmental Delay	Bifid uvula, Thick lower lip vermilion, Open mouth, Submucous cleft hard palate, Thin vermilion b...	OMIM:617412
Williams Syndrome	Carious teeth, Open bite, Death in early adulthood, Overfriendliness, Everted lower lip vermilion...	ORPHA:904
Rodrigues Blindness	Short stature, Microphthalmia	OMIM:268320
Cerebrocostomandibular Syndrome	Anal stenosis, Carious teeth, Cleft lip, Neonatal respiratory distress, Long philtrum, Anteriorly...	OMIM:117650
Methemoglobinemia And Ambiguous Genitalia	Micropenis, Cyanosis, Hypospadias, Scrotal hypospadias	OMIM:250790
Familial Exudative Vitreoretinopathy	Lymphedema, Macular edema, Microphthalmia	ORPHA:891
Silver-Russell Syndrome 1	Decreased response to growth hormone stimulation test, Clinodactyly of the 5th finger, Short dist...	OMIM:180860
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Lymphedema, Microphthalmia	OMIM:152950
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph...	ORPHA:324410
Pfeiffer Syndrome Type 3	Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus, Short hallux, Aqueducta...	ORPHA:93260
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath...	ORPHA:100026
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Ventriculomegaly, Agyria, Hypoplasia of the corpus callosum, Polymicrogyria	ORPHA:370997
Pelvis-Shoulder Dysplasia	Short stature, Spina bifida occulta, Microphthalmia	OMIM:169550
Gaucher Disease, Type I	Aortic valve stenosis, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepat...	OMIM:230800
Infantile Krabbe Disease	Opisthotonus, Abnormal circulating enzyme concentration or activity, Respiratory failure	ORPHA:206436
Aromatic L-Amino Acid Decarboxylase Deficiency	Apnea	OMIM:608643
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly, Ventriculomegaly, Hydrocephalus	OMIM:219730
Digeorge Syndrome	High, narrow palate, Unilateral renal agenesis, Recurrent pneumonia, Bifid uvula, Atelectasis, Re...	OMIM:188400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Ventriculomegaly, Polymicrogyria, Cerebral calcification, Hypoplasia of the corpus callosum, Hydr...	OMIM:616538
Warburg Micro Syndrome 3	Cerebral cortical atrophy, Ventriculomegaly, Polymicrogyria, Secondary microcephaly, Hypoplasia o...	OMIM:614222
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Neu-Laxova Syndrome 1	Neonatal death, Intrauterine growth retardation, Stillbirth, Pulmonary hypoplasia	OMIM:256520
Houge-Janssens Syndrome 1	Congenital hip dislocation, Ventriculomegaly, Hydrocephalus	OMIM:616355
Beck-Fahrner Syndrome	Microcephaly, Ventriculomegaly, Periventricular leukomalacia, Hip dysplasia	OMIM:618798
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Finger syndactyly, Agenesis of corpus callosum, Microcephaly, Proxima...	ORPHA:139471
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Ventriculomegaly, Broad thumb, Hypoplasia of the corpus callosum, Talipes equinovarus, Abnormal c...	OMIM:614501
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Growth delay, Intestinal obstruction, Purpura, Ataxia, Acrocyanosis, Urticaria	ORPHA:343
Brain Malformations With Or Without Urinary Tract Defects	Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:613735
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Falls, Protruding tongue, Submucous cleft hard palate, Thick vermilion border, H...	OMIM:618106
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Ja...	ORPHA:90033
Cutis Laxa, Autosomal Recessive, Type Ia	Emphysema, Bladder diverticulum, Peripheral pulmonary artery stenosis, Recurrent respiratory infe...	OMIM:219100
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Metacarpal...	OMIM:212780
Glycogen Storage Disease Ixc	Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation	OMIM:613027
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Microcephaly, Ventriculomegaly, Abnormal basal ganglia MRI signal intensity, Hypoplasia of the co...	ORPHA:431361
Adult-Onset Still Disease	Neutrophilia, Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Proteinuria, An...	ORPHA:829
Microphthalmia, Syndromic 5	Short stature, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610125
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Ventriculomegaly, Neuronal loss in basal ganglia, Focal cortical dysplasia, Cerebral atrophy, Bas...	OMIM:604377
Subaortic Stenosis-Short Stature Syndrome	Short stature, Microphthalmia	ORPHA:3191
Schizophrenia 1	Short proximal phalanx of the 4th toe, Syndactyly	OMIM:181510
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Polydactyly, Microcephaly, Brachydactyly	ORPHA:313781
Birk-Barel Syndrome	Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate, High palate, Short philtrum...	OMIM:612292
Common Variable Immunodeficiency	Pneumonia, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Bronchiectasis	ORPHA:1572
1P31P32 Microdeletion Syndrome	Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum	ORPHA:401986
Pfeiffer Syndrome	Broad thumb, Synostosis of carpal bones, Finger syndactyly, Brachydactyly, Hip dysplasia, Clinoda...	ORPHA:710
Pontocerebellar Hypoplasia, Type 2E	Ventriculomegaly, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Mi...	OMIM:615851
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Finger syndactyly, Aplasia of the proximal phalanges of the hand, Hypoplasia of the ulna, Short l...	ORPHA:2256
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome...	OMIM:607765
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Bloom Syndrome	Pneumonia, Bronchitis, Recurrent urinary tract infections, Neoplasm of the colon, Stomach cancer,...	ORPHA:125
ERI1-related disease	Slender metacarpals, Oligodactyly, Clinodactyly of the 5th finger, Limited elbow extension, Taper...	OMIM:608739
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Elevated circulating luteinizing hormo...	ORPHA:95699
Steinert Myotonic Dystrophy	Abnormality of the tongue muscle, Cholelithiasis, Elevated circulating hepatic transaminase conce...	ORPHA:273
Budd-Chiari Syndrome	Ascites, Portal hypertension, Cholecystitis, Splenomegaly, Peritonitis, Cirrhosis, Hepatomegaly, ...	ORPHA:131
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocyto...	OMIM:616084
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Oligohydramnios, Increased nuchal translucency, Microphthalmia	OMIM:618494
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Ventriculomegaly	OMIM:618314
Acrofrontofacionasal Dysostosis 2	Broad thumb, Broad hallux, Microcephaly, Hand polydactyly, Syndactyly	OMIM:239710
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Tachypnea, Growth delay	OMIM:614857
Vacterl/Vater Association	Intrauterine growth retardation, Aplasia/Hypoplasia of the lungs	ORPHA:887
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Pontocerebellar Hypoplasia, Type 10	Cerebral cortical atrophy, Ventriculomegaly, Reduced cerebral white matter volume, Simplified gyr...	OMIM:615803
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content	OMIM:619259
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Hypoxemia, Intraalveolar phospholipid accumulation, Cyanosis	ORPHA:747
Ear-Patella-Short Stature Syndrome	High, narrow palate, Bifid uvula, Narrow mouth, Submucous cleft hard palate, Epispadias, Thick ve...	ORPHA:2554
Takenouchi-Kosaki Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Clinodactyly, Overlapping toe, Abnormal periventricu...	OMIM:616737
Coffin-Lowry Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Ventriculomegaly, Cerebral co...	ORPHA:192
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Spl...	ORPHA:77259
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Eem Syndrome	Finger syndactyly, Ectrodactyly	ORPHA:1897
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Toe syndactyly, Finger syndactyly, Cerebral calcification, Arachnodactyly, Microcephaly, Short palm	ORPHA:73246
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Increased circulating prolactin concentration, Aspiration pneumonia, Apnea, H...	ORPHA:438213
Hereditary Bullous Dystrophy, Macular Type	Short stature, Acrocyanosis, Pneumonia, Growth delay	ORPHA:1867
Aarskog-Scott Syndrome	Small hand, Finger syndactyly, Camptodactyly of finger, Single transverse palmar crease, Broad pa...	ORPHA:915
Cocaine Intoxication	Diffuse alveolar hemorrhage, Respiratory distress, Pulmonary edema, Tachypnea, Pneumothorax, Hype...	ORPHA:90068
Isolated Sedoheptulokinase Deficiency	Steatorrhea, Ventriculomegaly, Subcortical cerebral atrophy, Hip dysplasia	ORPHA:440713
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Ventriculomegaly, Abnormal epiphysis morphology, Micromelia, Hypoplastic iliac wing, Hypoplasia o...	ORPHA:2637
Prader-Willi Syndrome	Small hand, Ventriculomegaly, Clinodactyly, Radial deviation of finger, Decreased response to gro...	OMIM:176270
Chromosome 17Q12 Duplication Syndrome	Smooth philtrum, Cleft soft palate, Esophageal atresia	OMIM:614526
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ...	OMIM:613812
Autosomal Recessive Spastic Paraplegia Type 77	Sudden episodic apnea	ORPHA:466722
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	Microcephaly, Ventriculomegaly, Primary microcephaly, Hypoplasia of the corpus callosum	ORPHA:404473
Kleefstra Syndrome Due To A Point Mutation	Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly, Abnormal cerebral white matter...	ORPHA:261652
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Mitochondrial Dna-Associated Leigh Syndrome	Dyspnea, Hyperventilation, Apnea, Episodic respiratory distress	ORPHA:255210
Relapsing Polychondritis	Erythema, Atelectasis, Anteriorly placed anus, Renal insufficiency, Hematuria, Proteinuria, Glome...	ORPHA:728
Arterial Tortuosity Syndrome	Cardiorespiratory arrest, Esophagitis, Median cleft palate, Hiatus hernia, Pulmonary artery steno...	ORPHA:3342
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Synaptic Congenital Myasthenic Syndromes	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors, Hypoventilation, Ab...	ORPHA:98915
Penile Agenesis	Bilateral lung agenesis, Maternal diabetes, Pulmonary hypoplasia	ORPHA:49
Sarcoidosis, Susceptibility To, 1	Emphysema, Hypoxemia, Pleural effusion, Dyspnea, Abnormal pulmonary interstitial morphology, Pulm...	OMIM:181000
Congenital Fiber-Type Disproportion Myopathy	Dental crowding, Aspiration pneumonia, Intercostal muscle weakness, High palate, Recurrent respir...	ORPHA:2020
1Q44 Microdeletion Syndrome	Microcephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:238769
Cadds	Ventriculomegaly, Abnormal cerebral white matter morphology	ORPHA:369942
Omenn Syndrome	Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden...	OMIM:603554
Fg Syndrome Type 1	Small pituitary gland, Ventriculomegaly, Clinodactyly of the 2nd finger, Finger syndactyly, Aplas...	ORPHA:93932
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia	ORPHA:494344
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Postaxial polydactyly type A, Broad hallux, 2-3 toe syndactyly, 2-3 finger syndactyly, Postaxial ...	OMIM:217085
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Velocardiofacial Syndrome	Velopharyngeal insufficiency, Open mouth, Submucous cleft hard palate, Aggressive behavior, Unila...	OMIM:192430
Meckel Syndrome, Type 1	Intrauterine growth retardation, Adrenal hypoplasia, Pulmonary hypoplasia	OMIM:249000
Dpagt1-Cdg	Pulmonary hypoplasia	ORPHA:86309
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Myasthenic Syndrome, Congenital, 21, Presynaptic	Apnea, Cyanosis	OMIM:617239
Rothmund-Thomson Syndrome, Type 3	Short distal phalanx of finger, Hypoplasia of the corpus callosum, Talipes equinovarus, Microceph...	OMIM:615789
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Cleft soft palate, Submucous cleft soft palate, Micropenis, Recurrent respiratory infections, Hyp...	ORPHA:2282
Congenital Disorder Of Glycosylation, Type Iim	Cerebral atrophy, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:300896
Cree Impaired Intellectual Development Syndrome	Cleft soft palate, Hypospadias	OMIM:606851
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy, Hypoventilation, Neonatal death	OMIM:618232
Shashi-Pena Syndrome	Ventriculomegaly, Reduced cerebral white matter volume, Mild fetal ventriculomegaly, Deep palmar ...	OMIM:617190
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Leukoencephalopathy, Cerebral cortical atrophy, Ventriculomegaly, Cerebral calcification, Periven...	OMIM:620024
Peho Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Microcephaly, Hydrocephalus, Porencephalic cyst, Tap...	ORPHA:2836
Neurooculorenal Syndrome	Ectopic posterior pituitary, Ventriculomegaly, Short 1st metacarpal, Polymicrogyria, Agenesis of ...	OMIM:620305
Acquired Methemoglobinemia	Hypoxemia, Cyanosis	ORPHA:464453
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Episodic tachypnea	OMIM:615160
Biliary, Renal, Neurologic, And Skeletal Syndrome	Broad thumb, Frontotemporal cerebral atrophy, Lateral ventricle dilatation, Polydactyly, Broad fi...	OMIM:619534
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Ventriculomegaly, Broad thumb, Short thumb, Broad hallux, Periventricular white matter hyperinten...	OMIM:620224
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly	OMIM:618398
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Apnea	ORPHA:395
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Prominent fingertip pads, Clinodactyly, Radial deviat...	OMIM:305450
Heart And Brain Malformation Syndrome	Polyhydramnios, Growth delay, Microphthalmia	OMIM:616920
Pettigrew Syndrome	Ventriculomegaly, Basal ganglia calcification, Cerebral calcification, Microcephaly, Hydrocephalu...	OMIM:304340
Fetal Alcohol Syndrome	Short stature, Intrauterine growth retardation, Microphthalmia	ORPHA:1915
Meier-Gorlin Syndrome 1	Emphysema, Respiratory distress, Intrauterine growth retardation, Death in infancy, Birth length ...	OMIM:224690
Kabuki Syndrome 1	Short 5th finger, Congenital hip dislocation, Lateral ventricle dilatation, Prominent fingertip p...	OMIM:147920
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Dilated cardiomyopathy, Lymphadenitis, Cardiomyopathy, Cholestasis, Vesicourete...	OMIM:615895
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Postnatal growth retardation, Intrauterine growth retardation, Pulmonary artery stenosis, Miscarr...	ORPHA:96334
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Lateral ventricle dilatation, Secondary microcephaly, Long hallux, Genu valgum, Hypoplasia of the...	ORPHA:261537
Joubert Syndrome 37	Short stature, Microphthalmia	OMIM:619185
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Intestinal malrotation, Hydroureter, Fetal megacystis	OMIM:249210
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Growth delay, Cyanosis	OMIM:250800
Alg12-Cdg	Ventriculomegaly, Sandal gap, Cavum septum pellucidum, Pachygyria, Hypocholesterolemia, Overlappi...	ORPHA:79324
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Combined D-2- And L-2-Hydroxyglutaric Aciduria	Microcephaly, Ventriculomegaly	OMIM:615182
Citrullinemia Type I	Tachypnea	ORPHA:247525
Williams-Beuren Syndrome	Premature graying of hair, Obsessive-compulsive trait, Celiac disease, Rectal prolapse, Short nos...	OMIM:194050
Plasminogen Deficiency, Type I	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:217090
Trichothiodystrophy 3, Photosensitive	Short stature, Intrauterine growth retardation, Microphthalmia	OMIM:616395
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Ventriculomegaly, Sandal gap, Agenesis of corpus callosum, Hydrocephalus, Abnormal fibula morphology	ORPHA:1812
Desmosterolosis	Ventriculomegaly, Abnormal cortical gyration, Micromelia, Polymicrogyria, Absent septum pellucidu...	ORPHA:35107
Combined Oxidative Phosphorylation Deficiency 14	Cerebral cortical atrophy, Ventriculomegaly, Cerebral atrophy, Diffuse cerebral atrophy, Microcep...	OMIM:614946
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Aplasia/hypoplasia involving bones of the extremi...	ORPHA:508533
Congenital Tracheal Stenosis	Abnormal lung lobation, Respiratory distress, Anomalous origin of left pulmonary artery from asce...	ORPHA:141127
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate	ORPHA:209908
Pulmonary Arteriovenous Malformation	Epistaxis, Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Hypoxemia, Pleural empyema	ORPHA:2038
Pitt-Hopkins-Like Syndrome 1	Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Hyperventil...	OMIM:610042
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Slender finger, Ventriculomegaly, Polymicrogyria, Talipes equinovarus, Camptodactyly, Long finger...	OMIM:618343
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Solitary Median Maxillary Central Incisor	Short stature, Anophthalmia, Microphthalmia	OMIM:147250
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Cerebral hypoplasia, Ventriculomegaly, Abnormal cortical gyration, Hypoplasia of the corpus callo...	ORPHA:79351
Familial Dysautonomia	Abnormal pleura morphology, Renal insufficiency, Acrocyanosis, Glomerulopathy, Gait disturbance, ...	ORPHA:1764
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Open mouth, Exaggerated cupid's bow, Hydronephrosis, Macroglossia, Respiratory failure	ORPHA:254528
Carey-Fineman-Ziter Syndrome	Ventriculomegaly, Ulnar deviation of finger, Cerebral calcification, Talipes equinovarus, Microce...	ORPHA:1358
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Clinodactyly, Agenesis of corpus callosum, Microcephaly, Brachydactyly, Proximal placement of thu...	OMIM:217980
Desmosterolosis	Ventriculomegaly, Joint contracture of the hand, Rhizomelia, Aplasia/Hypoplasia of the corpus cal...	OMIM:602398
Joubert Syndrome 2	Episodic tachypnea, Central apnea	OMIM:608091
Fanconi Anemia, Complementation Group B	Bilateral radial aplasia, Ventriculomegaly, Absent thumb, Hypoplasia of the corpus callosum, Hydr...	OMIM:300514
Q Fever	Hepatitis, Abnormal heart valve morphology, Hepatosplenomegaly, Abnormality of the liver, Splenom...	ORPHA:781
3C Syndrome	Ventriculomegaly, Finger syndactyly, Abnormal hip bone morphology, Hand polydactyly, Brachydactyl...	ORPHA:7
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Micropht...	OMIM:153400
Rh Deficiency Syndrome	Intrauterine growth retardation, Tachypnea, Hypoxemia, Miscarriage	ORPHA:71275
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Ventriculomegaly, Broad thumb, Prominent fingertip pads, Cerebral atrophy, Single transverse palm...	OMIM:617804
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence	OMIM:192445
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate	ORPHA:2736
Loeys-Dietz Syndrome 5	Bifid uvula, Cleft soft palate, Tented upper lip vermilion, Hiatus hernia, Eosinophilic infiltrat...	OMIM:615582
Microphthalmia/Coloboma 12	Optic nerve aplasia, Growth delay, Microphthalmia	OMIM:120200
Schwartz-Jampel Syndrome	Short stature, Apnea, Death in infancy	ORPHA:800
Granulomatous Disease, Chronic, X-Linked	Recurrent pneumonia, Atelectasis, Pleural effusion, Rectal abscess, Air bronchogram	OMIM:306400
Meier-Gorlin Syndrome 6	Severe short stature, Emphysema, Decreased response to growth hormone stimulation test, Delayed p...	OMIM:616835
Histiocytoid Cardiomyopathy	Pulmonary edema, Tachypnea, Cyanosis	ORPHA:137675
Galloway-Mowat Syndrome 3	Ventriculomegaly, Cerebral atrophy, Pachygyria, Hypoplasia of the corpus callosum, Arachnodactyly...	OMIM:617729
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Ventriculomegaly, Genu valgum, Short humerus, Hypop...	OMIM:600373
Intellectual Disability-Alacrima-Achalasia Syndrome	Ventriculomegaly	ORPHA:289483
Syndromic Diarrhea	Hepatic fibrosis, Renal hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Lymphopenia, ...	ORPHA:84064
Intellectual Developmental Disorder, Autosomal Dominant 57	Broad nasal tip, Tip-toe gait, Frequent temper tantrums, Prominent nasal bridge, Attention defici...	OMIM:618050
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Toriello-Carey Syndrome	Abnormal corpus callosum morphology, Ventriculomegaly, Clinodactyly, Cerebral atrophy, Hypoplasia...	ORPHA:3338
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Ventriculomegaly, Broad hallux, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, P...	ORPHA:457284
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Hypodontia, Glossoptosis, Submucous cleft hard palate	ORPHA:3201
Garg-Mishra Progeroid Syndrome	Short stature, Postnatal growth retardation, Microphthalmia	OMIM:620601
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Small hand, Ventriculomegaly, Abnormal cortical gyration, Hypoplasia of the corpus callosum, Post...	OMIM:300968
Pseudo-Torch Syndrome 1	Ventriculomegaly, Polymicrogyria, Cerebral calcification, Microcephaly, Pachygyria, Lissencephaly	OMIM:251290
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Abnormal corpus callosum morphology, Ventriculomegaly, Megalencephaly, Polymicrogyria	ORPHA:457485
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Microcephaly, Clinodactyly, Syndactyly	OMIM:618087
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Tachypnea	OMIM:245050
Multiple Epiphyseal Dysplasia, Lowry Type	Cleft hard palate	ORPHA:166016
Ellis Van Creveld Syndrome	Emphysema, Intrauterine growth retardation, Aplasia/Hypoplasia of the lungs, Neonatal short-limb ...	ORPHA:289
Native American Myopathy	Bifid uvula, Downturned corners of mouth, Respiratory insufficiency, Inability to walk, Submucous...	ORPHA:168572
Joubert Syndrome 1	Episodic tachypnea, Central apnea	OMIM:213300
Osteogenesis Imperfecta	Rhizomelia, Intrauterine growth retardation, Short stature, Growth delay, Pulmonary hypoplasia	ORPHA:666
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Ventriculomegaly, Cerebral hypoplasia, Cerebral atrophy, Camptodactyly of finger, Polymicrogyria,...	ORPHA:468631
Meacham Syndrome	Pulmonary sequestration, Aplasia/Hypoplasia of the lungs, Anomalous pulmonary venous return, Abno...	ORPHA:3097
Restrictive Dermopathy	Congenital adrenal hypoplasia, Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:1662
Shprintzen-Goldberg Syndrome	Apnea	ORPHA:2462
2Q37 Microdeletion Syndrome	Small hand, Toe syndactyly, Finger syndactyly, Bilateral single transverse palmar creases, Microc...	ORPHA:1001
Sepsis In Premature Infants	Oliguria, Reversible renal failure, Petechiae, Cyanosis, Enterocolitis, Jaundice, Purpura	ORPHA:90051
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Camptodactyly, Syndactyly	OMIM:616006
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Recurrent pneumonia, Dental...	OMIM:225400
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Growth delay, Anophthalmia, Microphthalmia	ORPHA:77298
Fanconi Anemia, Complementation Group S	Short stature, Microphthalmia	OMIM:617883
Bickerstaff Brainstem Encephalitis	Pneumonia, Respiratory tract infection, Ataxia, Respiratory failure, Respiratory failure requirin...	ORPHA:79138
Glycogen Storage Disease Ii	Urinary incontinence, Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:232300
Dubowitz Syndrome	Carious teeth, Velopharyngeal insufficiency, Delayed eruption of teeth, Hypocholesterolemia, Agen...	OMIM:223370
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Combined Oxidative Phosphorylation Defect Type 23	Respiratory failure	ORPHA:444013
Lethal Acantholytic Erosive Disorder	Natal tooth, Respiratory failure, Cleft palate	ORPHA:158687
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hypoplastic anterior commissure, Lateral ventricle dilatation, Secondary microcephaly, Long hallu...	ORPHA:261552
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Syndactyly	OMIM:619736
Craniosynostosis 2	Cleft soft palate, Supernumerary tooth	OMIM:604757
Spastic Paraplegia 51, Autosomal Recessive	Talipes equinovarus, Ventriculomegaly, Microcephaly, Cerebral cortical atrophy	OMIM:613744
Orofaciodigital Syndrome I	Abnormal cortical gyration, Clinodactyly, Radial deviation of finger, Cerebral atrophy, Polydacty...	OMIM:311200
Triploidy	Hydrocephalus, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum	ORPHA:3376
Kury-Isidor Syndrome	Finger syndactyly, Talipes equinovarus, Brachydactyly, Hip dysplasia, Rocker bottom foot, Proxima...	OMIM:619762
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Short thumb, Hypoplasia of the corpus callosum, Colpocephaly, Cerebral white matter hypoplasia, B...	ORPHA:477993
Kyphoscoliotic Ehlers-Danlos Syndrome	Poor wound healing, Bruising susceptibility, Difficulty walking, Bladder diverticulum, Fragile sk...	ORPHA:536545
16P13.11 Microdeletion Syndrome	Ventriculomegaly, Camptodactyly of finger, Metatarsus valgus, Agenesis of corpus callosum, Talipe...	ORPHA:261236
Mucopolysaccharidosis, Type Ix	Bifid uvula, Submucous cleft hard palate	OMIM:601492
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Peripheral pulmonary artery stenosis, Bronchiolitis, Small bowel diver...	ORPHA:90348
Tetanus	Respiratory distress, Tachypnea	ORPHA:3299
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Kbg Syndrome	Microcephaly, Cutaneous syndactyly, Single transverse palmar crease, Finger clinodactyly	ORPHA:2332
Cog8-Cdg	Ventriculomegaly, Progressive microcephaly	ORPHA:95428
Cardiac-Urogenital Syndrome	Partial anomalous pulmonary venous return, Scimitar anomaly, Pulmonary hypoplasia	OMIM:618280
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hypospadias, Broad-based gait, Unilateral renal agenesis, Dilatation of the renal pelvis, Widely ...	ORPHA:268261
Bartsocas-Papas Syndrome	Toe syndactyly, Absent thumb, Finger syndactyly, Microcephaly, Aplasia/Hypoplasia of the distal p...	ORPHA:1234
Combined Oxidative Phosphorylation Deficiency 39	Ventriculomegaly, Cerebral atrophy, Microcephaly, Pachygyria, Simplified gyral pattern	OMIM:618397
Osteopathia Striata With Cranial Sclerosis	Short stature, Apnea	OMIM:300373
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Microcolon, Hydroureter, Neonatal death, Hydronephrosis, Fetal megacystis	OMIM:619362
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Ventriculomegaly, Hypocholesterolemia, Single transverse palmar creas...	OMIM:244450
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pelvic girdle bone morphology, Rhizomelia, Ventriculomegaly, Hemiatrophy, Stippled calci...	OMIM:302960
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary gonadal insuff...	ORPHA:90796
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Camptodactyly, Abnormality of the hand, Clinodactyly, Syndactyly	ORPHA:369891
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Hematuri...	ORPHA:77261
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas...	OMIM:274000
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re...	OMIM:130650
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Tachypnea	OMIM:237310
Fetal Cytomegalovirus Syndrome	Microcephaly, Ventriculomegaly, Cerebral calcification	ORPHA:294
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Renal artery stenosis, Dilated cardiomyopathy	OMIM:208000
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Ectrodactyly, Polydactyly, Clinodactyly of the 5th finger, Syndactyly	ORPHA:397590
Marden-Walker Syndrome	Abnormal penis morphology, Bifid uvula, Multicystic kidney dysplasia, Abnormality of the urinary ...	ORPHA:2461
Stüve-Wiedemann Syndrome	Respiratory distress, Intrauterine growth retardation, Apnea, Hypothyroidism, Short stature, Ecto...	ORPHA:3206
Acute Bilirubin Encephalopathy	Central apnea	ORPHA:529799
Chronic Bilirubin Encephalopathy	Central apnea	ORPHA:529808
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ...	ORPHA:363705
Duane-Radial Ray Syndrome	Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi...	OMIM:607323
Frontofacionasal Dysplasia	Short stature, Encephalocele, Microphthalmia	ORPHA:1791
Ogden Syndrome	Ventriculomegaly, Broad hallux, Cerebral atrophy	ORPHA:276432
Rubinstein-Taybi Syndrome	Clubbing of toes, Broad thumb, Finger syndactyly, Abnormal distal phalanx morphology of finger, M...	ORPHA:783
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
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, Camptodactyly, Tapered finger	ORPHA:435938
Fabry Disease	Dyspnea, Emphysema, Hyperlipidemia, Delayed puberty, Short stature, Diabetes insipidus	ORPHA:324
Congenital Disorder Of Glycosylation, Type If	Microcephaly, Ventriculomegaly, Cerebral atrophy	OMIM:609180
Occipital Horn Syndrome	Bruising susceptibility, Ureteral obstruction, Hydronephrosis, Bladder diverticulum, Hiatus herni...	OMIM:304150
Danon Disease	Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia...	OMIM:300257
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Ulnar deviation of thumb, ...	OMIM:142900
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Fanconi Anemia, Complementation Group R	Growth delay, Microphthalmia	OMIM:617244
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short 5th finger, Ventriculomegaly, Broad thumb, Broad hallux, Preaxial hand polydactyly, Overlap...	ORPHA:508498
Choreoacanthocytosis	Cerebral cortical atrophy, Lateral ventricle dilatation, Small basal ganglia, Abnormal putamen mo...	ORPHA:2388
Amyloidosis, Hereditary Systemic 1	Urinary incontinence, Cardiomegaly, Cardiomyopathy	OMIM:105210
Genitourinary And/Or Brain Malformation Syndrome	Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy...	OMIM:618820
Campomelic Dysplasia	Small abnormally formed scapulae, Ventriculomegaly, Femoral bowing, Tibial bowing, Fibular hypopl...	ORPHA:140
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Bladder diverticulum, Fragile skin, Bruising susceptibility	OMIM:617821
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, Microcephaly, Brac...	ORPHA:1005
Warburg Micro Syndrome 4	Short stature, Severe postnatal growth retardation, Microphthalmia	OMIM:615663
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Ventriculomegaly, Shortening of all distal phalanges of the fingers, Microcephaly, Broad hallux	OMIM:614749
Aortic Arch Interruption	Respiratory distress, Cyanosis, Aortopulmonary window, Tachypnea, Exertional dyspnea	ORPHA:2299
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Tyrosinemia, Type I	Nephrocalcinosis, Elevated urinary succinylacetone level, Hypertrophic cardiomyopathy, Ascites, R...	OMIM:276700
Mitochondrial Complex I Deficiency, Nuclear Type 32	Patent urachus, Respiratory failure, Death in childhood	OMIM:618252
Kleefstra Syndrome Due To 9Q34 Microdeletion	Cerebral cortical atrophy, Ventriculomegaly, Absent septum pellucidum, Agenesis of corpus callosu...	ORPHA:96147
Filippi Syndrome	Finger syndactyly, Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Micro...	ORPHA:3255
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly	OMIM:619423
Microphthalmia With Limb Anomalies	Postnatal growth retardation, Growth delay, Anophthalmia, Microphthalmia	OMIM:206920
Fraser Syndrome 1	Abnormal thymus morphology, Pulmonary hypoplasia	OMIM:219000
Arthrogryposis, Distal, Type 3	Bifid uvula, High palate, Cleft palate, Submucous cleft hard palate	OMIM:114300
Wolfram Syndrome	Male hypogonadism, Hypogonadism, Delayed puberty, Central apnea, Diabetes insipidus, Diabetes mel...	ORPHA:3463
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Pachygyria, Polymicrogyria	ORPHA:2328
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly	OMIM:226700
Maternal Uniparental Disomy Of Chromosome 6	Ventriculomegaly, Slender long bone	ORPHA:96181
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Hydrone...	OMIM:612541
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microphthalmia	OMIM:615249
Tetrasomy 9P	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:3310
Pseudoleprechaunism Syndrome, Patterson Type	Bladder diverticulum, Prominent nose, Palmoplantar cutis laxa	ORPHA:2976
Occipital Horn Syndrome	High, narrow palate, Bruising susceptibility, Recurrent urinary tract infections, Esophagitis, Ab...	ORPHA:198
Fanconi Anemia, Complementation Group F	Polyhydramnios, Intrauterine growth retardation, Short stature, Microphthalmia	OMIM:603467
Cri-Du-Chat Syndrome	Single transverse palmar crease, Microcephaly, Metatarsus adductus, Short metatarsal, Short metac...	OMIM:123450
Neurocutaneous Melanocytosis	Ventriculomegaly, Dandy-Walker malformation	ORPHA:2481
Femoral-Facial Syndrome	Short fifth metatarsal, Ventriculomegaly, Toe syndactyly, Hypoplastic acetabulae, Preaxial hand p...	OMIM:134780
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Nephrocalcinosis, Dental crowding, Delayed eruption of teeth, Narrow mouth, Submucou...	OMIM:300990
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit...	OMIM:232220
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Micro Syndrome	Short stature, Intrauterine growth retardation, Delayed puberty, Microphthalmia	ORPHA:2510
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1352
Loeys-Dietz Syndrome 4	Emphysema, Pneumothorax	OMIM:614816
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Agenesis of c...	OMIM:614924
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Galloway-Mowat Syndrome 1	Hand clenching, Joint contracture of the hand, Slender finger, Ventriculomegaly, Cerebral atrophy...	OMIM:251300
Peroxisome Biogenesis Disorder 5A (Zellweger)	Polymicrogyria, Pachygyria, Epiphyseal stippling, Single transverse palmar crease, Agenesis of co...	OMIM:614866
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Short stature, Microphthalmia	OMIM:617306
Fraser Syndrome	Pulmonary hypoplasia, Death in infancy, Abnormal lung lobation	ORPHA:2052
Molybdenum Cofactor Deficiency, Type B	Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Neonatal death, Diffuse ce...	OMIM:252160
Fucosidosis	Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Glycopeptiduria, Vacuolated lymphoc...	OMIM:230000
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Ventriculomegaly, Talipes equinovarus, Microcephaly, Hydrocephalus, Megalencephaly, Tapered finger	OMIM:613603
Marshall-Smith Syndrome	Bowing of the long bones, Ventriculomegaly, Slender long bone	ORPHA:561
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Urinary incontinence, Hyperventilation, Attention deficit hyperactivity disorder, Motor stereotypy	ORPHA:98784
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Cyanosis, Death in infancy, Renal cyst, Partial anomalous pulmonary venous r...	OMIM:617478
Acrocardiofacial Syndrome	Cerebral cortical atrophy, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Abnormal m...	ORPHA:2008
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Agenesis of corpus callosum, Aplasia of the distal p...	ORPHA:3472
Tbck-Related Intellectual Disability Syndrome	Ventriculomegaly, Clinodactyly, Decreased response to growth hormone stimulation test, Abnormal p...	ORPHA:488632
Mosaic Trisomy 9	Intrauterine growth retardation, Oligohydramnios, Spina bifida, Microphthalmia, Polyhydramnios, H...	ORPHA:99776
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Abnormal cer...	OMIM:615471
Frontonasal Dysplasia 2	Intrauterine growth retardation, Oligohydramnios, Encephalocele, Microphthalmia	OMIM:613451
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Congenital hip dislocation, Cubitus valgus, Syndactyly	OMIM:104350
Slc39A8-Cdg	Short stature, Disproportionate short-limb short stature, Sudden episodic apnea	ORPHA:468699
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Decreased erythrocy...	OMIM:611881
D-Bifunctional Protein Deficiency	Ventriculomegaly, Cerebral hypoplasia, Polymicrogyria, Hypoplasia of the corpus callosum, Talipes...	OMIM:261515
Nasopalpebral Lipoma-Coloboma Syndrome	Severe postnatal growth retardation, Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Broad-based gait, Submucous cleft hard palate, Attention deficit hyperactivity disorder, Chordee,...	OMIM:618891
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventriculomegaly, Cavum septum pellucidum, Secondary microcephaly, Brachydactyly, Hip dysplasia, ...	OMIM:620654
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Unilateral renal agenesis, Renal agenesis, Submucous cleft hard palate, Attention deficit hyperac...	OMIM:619227
Tatton-Brown-Rahman Syndrome	Ventriculomegaly, Short toe, Widely spaced toes	ORPHA:404443
Khan-Khan-Katsanis Syndrome	Ventriculomegaly, Clinodactyly, Postaxial polydactyly, Microcephaly, Colpocephaly	OMIM:618460
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Micromelia, Broad hallux, Single transverse palmar crease, Brachydactyly, Syndactyly	OMIM:614800
Mpdu1-Cdg	Decreased response to growth hormone stimulation test, Ventriculomegaly	ORPHA:79323
Luscan-Lumish Syndrome	Ventriculomegaly, Advanced ossification of carpal bones	OMIM:616831
Postpoliomyelitis Syndrome	Dysphagia, Hypoventilation	ORPHA:2942
Acro-Renal-Ocular Syndrome	Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r...	ORPHA:959
Cerebrooculofacioskeletal Syndrome 4	Short stature, Intrauterine growth retardation, Bilateral microphthalmos	OMIM:610758
Silver-Russell Syndrome 3	Clinodactyly of the 5th finger, Small hand, Syndactyly	OMIM:616489
Seckel Syndrome 9	Talipes equinovarus, Ventriculomegaly, Microcephaly, Simplified gyral pattern	OMIM:616777
Gm1-Gangliosidosis, Type Ii	Cerebral atrophy, Ventriculomegaly, Limb undergrowth, Coxa valga	OMIM:230600
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly	OMIM:612918
Hoyeraal-Hreidarsson Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Cerebral calcification, Microcephaly	ORPHA:3322
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenomegal...	OMIM:610199
Acrofacial Dysostosis, Catania Type	Small hand, Finger syndactyly, Bilateral single transverse palmar creases, Microcephaly, Brachyda...	ORPHA:1786
Tarp Syndrome	Clinodactyly, Single transverse palmar crease, Neonatal death, Postaxial polydactyly, Talipes equ...	OMIM:311900
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Sandal gap, Radial deviation of finger, Proximal p...	ORPHA:3103
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Naxos Disease	Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly...	OMIM:601214
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Single transverse palmar crease, Agenesis of corpus callosum, Microceph...	OMIM:309801
Spondylometaphyseal Dysplasia, Schmidt Type	Cleft soft palate	ORPHA:93316
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Broad toe, Dis...	OMIM:268310
Myhre Syndrome	Abnormal penis morphology, Bifid uvula, Gingival cleft, Unilateral cleft lip, Abnormal lip morpho...	ORPHA:2588
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Ventriculomegaly	ORPHA:2031
Myasthenia Gravis	Acrocyanosis, Dysphagia, Glycosuria	ORPHA:589
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Ventriculomegaly, Type II lissencephaly, Agenesis of corpus callosum, Microcephaly, Hydrocephalus...	OMIM:613150
Myhre Syndrome	Cleft lip, Respiratory insufficiency, Narrow mouth, Thin upper lip vermilion, Ataxia, Short philt...	OMIM:139210
Joubert Syndrome 14	Meningocele, Growth delay, Encephalocele, Microphthalmia	OMIM:614424
Cardiofaciocutaneous Syndrome 1	Abnormality of the dentition, Dental malocclusion, Open bite, Open mouth, Splenomegaly, Submucous...	OMIM:115150
19Q13.11 Microdeletion Syndrome	Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Microcephaly, Cl...	ORPHA:217346
Mitochondrial Phosphate Carrier Deficiency	Cyanosis	OMIM:610773
Holoprosencephaly 14	Ventriculomegaly, Absent septum pellucidum, Microcephaly, Hydrocephalus, Aqueductal stenosis, Par...	OMIM:619895
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Bladder diverticulum, Cleft soft palate, Waddling gait	OMIM:614557
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly	OMIM:605231
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Pollakisuria, Right ventricular hypertrophy	ORPHA:268
Fumarase Deficiency	Ventriculomegaly, Open operculum, Cerebral atrophy, Polymicrogyria, Agenesis of corpus callosum, ...	OMIM:606812
Orofaciodigital Syndrome Type 10	Cleft soft palate, Long philtrum, Accessory oral frenulum	ORPHA:2756
Sifrim-Hitz-Weiss Syndrome	Ventriculomegaly, Short clavicles, Flat acetabular roof, Short femoral neck, Tapered finger	OMIM:617159
Branchioskeletogenital Syndrome	Bifid uvula, Abnormality of the dentition, Carious teeth, Downturned corners of mouth, Anteriorly...	ORPHA:1299
6Q Terminal Deletion Syndrome	Abnormal cerebral cortex morphology, Clinodactyly, Polymicrogyria, Hypoplasia of the corpus callo...	ORPHA:75857
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Cerebral hypoplasia, Agenesis of corpus callosum, Short sternum, Microcephaly, ...	OMIM:257300
Peripartum Cardiomyopathy	Respiratory failure	ORPHA:563
Orofaciodigital Syndrome Type 2	Short stature, Tachypnea, Apnea	ORPHA:2751
Blepharocheilodontic Syndrome 1	Cutaneous syndactyly, Clinodactyly	OMIM:119580
Stickler Syndrome, Type I	Bifid uvula, Cleft palate, Submucous cleft hard palate, Pierre-Robin sequence	OMIM:108300
Mucopolysaccharidosis Type 3	Recurrent tonsillitis, Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, A...	ORPHA:581
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Hyperventilation, Central apnea	ORPHA:522077
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
White Forelock With Malformations	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:2475
Combined Oxidative Phosphorylation Deficiency 55	Ventriculomegaly, Single transverse palmar crease, Talipes equinovarus, Microcephaly, Thin corpus...	OMIM:619743
Hydranencephaly	Cerebral cortical atrophy, Ventriculomegaly, Atrophic pituitary gland, Abnormal corpus striatum m...	ORPHA:2177
Lenz-Majewski Hyperostotic Dwarfism	Aplastic clavicle, Finger syndactyly, Absent septum pellucidum, Agenesis of corpus callosum, Abno...	ORPHA:2658
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Spl...	ORPHA:288
Tukel Syndrome	Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly	OMIM:609428
Isolated Biliary Atresia	Periportal fibrosis, Cholestasis, Atretic gallbladder, Splenomegaly, Prolonged neonatal jaundice,...	ORPHA:30391
Oculodentodigital Dysplasia	Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Clinodactyly, Preaxial hand polydact...	ORPHA:2710
Diamond-Blackfan Anemia	Cleft lip, Renal agenesis, Elevated red cell adenosine deaminase activity, Horseshoe kidney, Clef...	ORPHA:124
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger	ORPHA:246
Osteopathia Striata-Cranial Sclerosis Syndrome	High, narrow palate, Bifid uvula, Delayed eruption of teeth, Submucous cleft hard palate, Cleft p...	ORPHA:2780
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Bifid uvula, Renal hypoplasia, Vesicoureteral reflux, Submucous cleft hard palate	OMIM:617660
Witteveen-Kolk Syndrome	Small hand, Toe syndactyly, Ventriculomegaly, Short thumb, Clinodactyly, Radial deviation of fing...	OMIM:613406
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly	OMIM:149000
Fraser Syndrome 3	Hydrocephalus, Cutaneous syndactyly, Short toe, Stillbirth	OMIM:617667
Costello Syndrome	Thick lower lip vermilion, Respiratory insufficiency, Renal insufficiency, Pneumothorax, Macroglo...	OMIM:218040
W Syndrome	Agenesis of maxillary central incisor, Upper lip pit, Broad uvula, Submucous cleft hard palate	ORPHA:2804
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebral cortical atrophy, Ventriculomegaly, Arachnodactyly, Large hands, Thick corpus callosum, ...	OMIM:617011
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Otodental Syndrome	Lens coloboma, Microphthalmia	ORPHA:2791
Sanjad-Sakati Syndrome	Ventriculomegaly, Small hand, Short foot, Microcephaly	ORPHA:2323
Linear Nevus Sebaceus Syndrome	Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Porencephali...	ORPHA:2612
Bifid Uvula	Bifid uvula, Cleft lip, Submucous cleft soft palate	ORPHA:99771
Childhood Absence Epilepsy	Punding, Urinary incontinence, Attention deficit hyperactivity disorder, Hyperventilation	ORPHA:64280
Bilateral Polymicrogyria	Aplasia/Hypoplasia of the cerebral white matter, Ventriculomegaly, 4-layered lissencephaly, Talip...	ORPHA:268940
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly	ORPHA:1514
Neonatal Marfan Syndrome	Emphysema, Hypoxemia	ORPHA:284979
Ectodermal Dysplasia-Blindness Syndrome	Short stature, Microphthalmia	ORPHA:1806
Zttk Syndrome	Bifid uvula, Abnormality of the dentition, Unilateral renal agenesis, Downturned corners of mouth...	OMIM:617140
Focal Dermal Hypoplasia	Abnormality of the pulmonary vasculature, Aplasia/Hypoplasia of the lungs	ORPHA:2092
Hyperparathyroidism, Neonatal Severe	Dyspnea, Tachypnea, Elevated circulating parathyroid hormone level, Primary hyperparathyroidism	OMIM:239200
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Cardiomegaly, Incr...	OMIM:620376
Keutel Syndrome	Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti...	OMIM:245150
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bifid uvula, Abnormality of the urinary system, Hydroureter, Submucous cleft hard palate, Hydrone...	ORPHA:2636
Adams-Oliver Syndrome 1	Ventriculomegaly, Toe syndactyly, Polymicrogyria, Periventricular leukomalacia, Hypoplasia of the...	OMIM:100300
46,Xy Sex Reversal 5	Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating...	OMIM:613080
Dubowitz Syndrome	Abnormality of the dentition, Anal stenosis, Hypospadias, Delayed eruption of teeth, Respiratory ...	ORPHA:235
Cantú Syndrome	Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Ritscher-Schinzel Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:619135
Hutchinson-Gilford Progeria Syndrome	Shuffling gait, Delayed eruption of teeth, Generalized abnormality of skin, Abnormal nasal tip mo...	ORPHA:740
Dyrk1A-Related Intellectual Disability Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Toe syndactyly, Hypoplasia of the corpus callosum, P...	ORPHA:464306
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microglossia, Exaggerated median tongue furrow, Long philtrum, Tented upper lip vermilion, Submuc...	OMIM:608670
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Microphthalmia	OMIM:234050
Cohen Syndrome	Finger syndactyly, Sandal gap, Abnormal hip bone morphology, Genu valgum, Narrow palm, Arachnodac...	ORPHA:193
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ...	OMIM:620066
Beare-Stevenson Cutis Gyrata Syndrome	Ventriculomegaly, Overlapping toe, Limited elbow extension, Agenesis of corpus callosum, Palmopla...	OMIM:123790
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly	ORPHA:1997
Developmental And Epileptic Encephalopathy 2	Inability to walk, Hyperventilation, Anteverted nares, Motor stereotypy	OMIM:300672
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Growth delay, Recurrent infections due to aspiration, Glomerular sclerosis, Acrocyanosis, Abnorma...	OMIM:223900
Distal Deletion 6P	Ventriculomegaly, Abnormal epiphysis morphology, Talipes equinovarus, Clinodactyly of the 5th fin...	ORPHA:96125
Heterotaxy, Visceral, 7, Autosomal	Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Intestinal malrotation, Cya...	OMIM:616749
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Ventriculomegaly, Type II lissencephaly, Absent septum pellucidum, Agenesis of corpus callosum, A...	OMIM:615287
8Q22.1 Microdeletion Syndrome	Abnormality of the dentition, Long philtrum, Submucous cleft hard palate	ORPHA:178303
Jacobsen Syndrome	Toe clinodactyly, Ventriculomegaly, Toe syndactyly, Finger syndactyly, Short toe, Cerebral atroph...	ORPHA:2308
Kapur-Toriello Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:244300
Mowat-Wilson Syndrome	Tooth malposition, Broad-based gait, Multicystic kidney dysplasia, Open mouth, Chordee, Everted l...	ORPHA:2152
Pierson Syndrome	Hypoplasia of the iris, Rieger anomaly, Oligohydramnios, Macular hypoplasia, Hypoplasia of the ci...	OMIM:609049
Familial Idiopathic Dilatation Of The Right Atrium	Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr...	ORPHA:1677
Ring Chromosome 12 Syndrome	Symphalangism of the thumb, Clinodactyly, Abnormal 5th finger morphology, Microcephaly, Syndactyly	ORPHA:1439
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,...	ORPHA:1071
Genitopatellar Syndrome	Hypothyroidism, Pulmonary hypoplasia	OMIM:606170
Vertebral Hypersegmentation And Orofacial Anomalies	Unilateral cleft palate, Unilateral cleft lip, Submucous cleft hard palate	OMIM:619122
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Disproportionate short-limb short stature, Pulmonary hypoplasia	ORPHA:93271
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Nodular pattern on pulmonary HR...	OMIM:130050
Oculo-Palato-Cerebral Syndrome	Short stature, Intrauterine growth retardation, Microphthalmia	ORPHA:2714
Orofaciodigital Syndrome Type 1	Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand polydacty...	ORPHA:2750
X-Linked Dominant Chondrodysplasia Punctata	Short stature, Severe postnatal growth retardation, Microphthalmia	ORPHA:35173
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ...	OMIM:619991
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Ulnar deviation of finger, Ventriculomegaly, Clinodactyly, Sandal gap, Radial deviation of finger...	OMIM:618164
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Multiple Pterygium-Malignant Hyperthermia Syndrome	Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Hemiatrophy, Long palm, Ar...	ORPHA:2215
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Larsen Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m...	ORPHA:503
Hyperparathyroidism, Transient Neonatal	Fractured rib, Ventriculomegaly, Metaphyseal spurs, Femoral bowing, Short long bone, Communicatin...	OMIM:618188
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Abnormal hip bone morphology, Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger	ORPHA:1323
Menkes Disease	Prolonged neonatal jaundice, Bladder diverticulum, Intrauterine growth retardation, Spontaneous h...	ORPHA:565
Papillorenal Syndrome	Short stature, Edema, Microphthalmia	OMIM:120330
Frontorhiny	Basal encephalocele, Cranium bifidum occultum, Encephalocele, Microphthalmia	ORPHA:391474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Polymicrogyria, Type II lissencephaly, Hypoplasia of the corpus callosum, Agene...	OMIM:236670
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Rhizomelia, Phalangeal cone-shaped epiphyses, Ventriculomegaly, Short toe, Clinodactyly of the 2n...	OMIM:266920
Cerebellar-Facial-Dental Syndrome	Ventriculomegaly, Slender long bone, Periventricular leukomalacia, Hypoplasia of the corpus callo...	ORPHA:444072
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short stature, Microphthalmia	OMIM:618571
Postinfectious Vasculitis	Pneumonia, Palpable purpura, Cutis marmorata, Hematuria, Proteinuria, Glomerulonephritis, Membran...	ORPHA:48435
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Intrauterine growth retardation, Oligohydramnios, Microphthalmia	ORPHA:364577
Microphthalmia, Lenz Type	Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Aplasia/Hypoplasia of t...	ORPHA:568
Kinsship Syndrome	Ventriculomegaly, Single transverse palmar crease, Polydactyly, Fibular hypoplasia, Microcephaly,...	OMIM:619297
Sarcoidosis	Chylothorax, Diabetes insipidus, Emphysema, Abnormal pleura morphology, Pleural effusion, Abnorma...	ORPHA:797
Holocarboxylase Synthetase Deficiency	Hyperventilation, Tachypnea	OMIM:253270
Xeroderma Pigmentosum, Complementation Group B	Basal ganglia calcification, Ventriculomegaly, Microcephaly	OMIM:610651
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula...	OMIM:245600
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydactyly, Aplasia...	OMIM:200990
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume	OMIM:153670
Apparent Mineralocorticoid Excess	Intrauterine growth retardation, Abnormality of circulating cortisol level, Decreased circulating...	ORPHA:320
Mucolipidosis Ii Alpha/Beta	Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Enl...	OMIM:252500
Trisomy 18	Growth delay, Intrauterine growth retardation, Oligohydramnios, Spina bifida, Microphthalmia, Sho...	ORPHA:3380
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233710
Intellectual Developmental Disorder, X-Linked, Syndromic 34	High, narrow palate, Dental crowding, Widely spaced teeth, Open mouth, Narrow mouth, Submucous cl...	OMIM:300967
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Biliary h...	ORPHA:567983
Cerebrooculonasal Syndrome	Ventriculomegaly, Hypoplasia of the corpus callosum, Postaxial polydactyly, Hydrocephalus, Postax...	OMIM:605627
Viss Syndrome	High, narrow palate, Bifid uvula, Pulmonary artery aneurysm, Broad uvula, Celiac disease, Emphyse...	OMIM:619472
Pallister-Killian Syndrome	Rhizomelia, Mesomelic/rhizomelic limb shortening, Apneic episodes in infancy, Stillbirth, Hyperve...	OMIM:601803
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Ventriculomegaly, Clinodactyly, Overlapping toe, Abnormal periventricular white matter morphology...	ORPHA:487796
Warburg Micro Syndrome 2	Postnatal growth retardation, Microphthalmia	OMIM:614225
Scorpion Envenomation	Pulmonary edema, Tachypnea	ORPHA:466677
Moebius Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent hand, Aplasia/Hypoplasia involving th...	ORPHA:570
Aymé-Gripp Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Reduced arm span, Hypoplasia of the corpus callosum,...	ORPHA:1272
Vascular Ehlers-Danlos Syndrome	High, narrow palate, Abnormality of the dentition, Pulmonary artery aneurysm, Carious teeth, Peri...	ORPHA:286
Dermatomyositis	Erythema, Shawl sign, V-sign, Acrocyanosis, Cutaneous photosensitivity, Lung adenocarcinoma, Diff...	ORPHA:221
Blepharonasofacial Malformation Syndrome	Finger syndactyly	ORPHA:1252
Refsum Disease	Microphthalmia	ORPHA:773
X Small Rings	Toe syndactyly, Upper limb undergrowth, Lower limb undergrowth, 2-3 toe syndactyly, Cutaneous syn...	ORPHA:96201
Teebi-Shaltout Syndrome	Caudal appendage, Single transverse palmar crease, Talipes equinovarus, Microcephaly, Ulnar devia...	OMIM:272950
Joubert Syndrome 5	Episodic tachypnea, Central apnea	OMIM:610188
Hamamy Syndrome	Down-sloping shoulders, Long toe, Tapered finger, Long fingers, Hip dysplasia, Short 2nd finger, ...	OMIM:611174
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventriculomegaly, Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephal...	OMIM:616975
Diethylstilbestrol Syndrome	Central apnea	ORPHA:1916
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233690
Beckwith-Wiedemann Syndrome	Nephropathy, Visceromegaly, Polycythemia, Abnormal pancreas morphology, Hypertrophic cardiomyopat...	ORPHA:116
Long Qt Syndrome 8	Syndactyly	OMIM:618447
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Limb-Mammary Syndrome	Bifid uvula, Cleft lip, Submucous cleft soft palate, Hypodontia, Cleft hard palate, Cleft palate	ORPHA:69085
Pyruvate Carboxylase Deficiency	Ventriculomegaly, Increased caudate lactate level, Periventricular cysts, Agenesis of corpus call...	ORPHA:3008
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Microphthalmia, Syndromic 6	Cerebral cortical atrophy, Ventriculomegaly, Toe syndactyly, Finger syndactyly, Thumb contracture...	OMIM:607932
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Splenomegaly, Pancre...	ORPHA:565612
Joubert Syndrome 8	Prolonged neonatal jaundice, Hyperventilation, Occipital encephalocele, Ataxia	OMIM:612291
Skin Creases, Congenital Symmetric Circumferential, 2	Ventriculomegaly, Hypoplasia of the corpus callosum, 2-3 toe syndactyly, Microcephaly, Long finge...	OMIM:616734
Distal Deletion 3P	Clinodactyly of the 5th finger, Ventriculomegaly, Microcephaly, Postaxial hand polydactyly	ORPHA:1620
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Ventriculomegaly, Increased density of long bones, Short 1st meta...	OMIM:269150
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Nail bed telangiectasia, Pulmonary hemorrhage, Nasal mucosa telangiectasia...	OMIM:187300
Holoprosencephaly	Panhypopituitarism, Aplasia/Hypoplasia of the lungs, Diabetes insipidus, Diabetes mellitus, Anter...	ORPHA:2162
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Severe short stature, Chylothorax, Lymphedema, Pleural effusion, Anophthalmia, Microphthalmia, Edema	ORPHA:2526
Chromosome 8Q21.11 Deletion Syndrome	Hypoplasia of the corpus callosum, Syndactyly, Camptodactyly, Short metacarpal, Absent palmar crease	OMIM:614230
Acrofacial Dysostosis, Palagonia Type	Short 4th metacarpal, Small hand, Finger syndactyly	ORPHA:1787
Coffin-Lowry Syndrome	Narrow palate, Thick nasal septum, Broad columella, Thick nasal alae, Anteverted nares, Cutis mar...	OMIM:303600
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Cerebral cortical atrophy, Ventriculomegaly, Short toe, Hypoplasia of the corpus callosum, Microc...	ORPHA:464311
De Sanctis-Cacchione Syndrome	Ventriculomegaly, Cerebral atrophy, Basal ganglia calcification, Microcephaly, Bilateral coxa valga	OMIM:278800
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Hepatic...	OMIM:619321
Wolf-Hirschhorn Syndrome	Intrauterine growth retardation, Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs	ORPHA:280
Mullegama-Klein-Martinez Syndrome	Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Long philtrum, Thin upper lip ve...	OMIM:301022
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Adactyly, Upper...	ORPHA:989
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Polymicrogyria, Syndactyly	OMIM:614520
Hyperlipoproteinemia, Type Id	Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly	OMIM:615947
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Sclerosteosis 1	Abnormal pelvic girdle bone morphology, Deviation of finger, 2-3 finger syndactyly, Cortically de...	OMIM:269500
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Death in childhood, Neonatal d...	OMIM:614437
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Pili Torti-Onychodysplasia Syndrome	Cutaneous syndactyly, Palmoplantar keratoderma	ORPHA:2890
Kbg Syndrome	Radial deviation of finger, Ulnar deviation of the 2nd finger, Single transverse palmar crease, M...	OMIM:148050
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Cutis marmorata, St...	ORPHA:416
Serotonin Syndrome	Tachypnea	ORPHA:43116
Beta-Ketothiolase Deficiency	Tachypnea	ORPHA:134
Encephalocraniocutaneous Lipomatosis	Cerebral cortical atrophy, Ventriculomegaly, Cerebral atrophy, Cerebral calcification, Absent sep...	ORPHA:2396
Oculodentodigital Dysplasia, Autosomal Recessive	Short stature, Microphthalmia	OMIM:257850
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Brachydactyly, Pos...	OMIM:209900
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis, Submucous cleft hard palate, Mi...	OMIM:619194
Microphthalmia, Syndromic 3	Optic nerve aplasia, Postnatal growth retardation, Anophthalmia, Microphthalmia, Short stature, O...	OMIM:206900
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Rhizomelia, Anophthalmia, Microphthalmia	OMIM:615877
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Abnormal dental enamel morphology, Abnormal rectum morphology, Abnorma...	ORPHA:2556
Branchiogenic-Deafness Syndrome	Submucous cleft hard palate	OMIM:609166
1Q21.1 Microdeletion Syndrome	Short stature, Intrauterine growth retardation, Microphthalmia	ORPHA:250989
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Saethre-Chotzen Syndrome	Broad thumb, Finger syndactyly, Bilateral single transverse palmar creases, Triphalangeal thumb, ...	ORPHA:794
Holoprosencephaly 13, X-Linked	Microcephaly, Colpocephaly, Septo-optic dysplasia, Agenesis of corpus callosum	OMIM:301043
Classical Ehlers-Danlos Syndrome	Poor wound healing, Bruising susceptibility, Ecchymosis, Hiatus hernia, Bladder diverticulum, Fra...	ORPHA:287
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia	ORPHA:91495
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Clubbing of toes, Aplasia/Hypoplasia of the radius, Toe syndactyly...	ORPHA:84
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, H...	OMIM:619418
Monosomy 9Q22.3	Palmar pits, Ventriculomegaly, Calcification of falx cerebri, Polydactyly, Hydrocephalus	ORPHA:77301
Meier-Gorlin Syndrome 5	Micropenis, Long philtrum, Submucous cleft hard palate, Thick vermilion border	OMIM:613805
Wolf-Hirschhorn Syndrome	Pseudoepiphyses of the metacarpals, Ventriculomegaly, Short thumb, Preaxial hand polydactyly, Per...	OMIM:194190
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Narrow mouth, Hepatic steatosis, Action tremor, Ataxia, Hypospadias, Downturned corn...	ORPHA:3455
Trichothiodystrophy 1, Photosensitive	Short stature, Microphthalmia	OMIM:601675
Aicardi Syndrome	Ventriculomegaly, Small hand, Polymicrogyria, Microcephaly, Hip dysplasia, Pachygyria, Partial ag...	ORPHA:50
Poland Syndrome	Small hand, Aplasia/Hypoplasia of the radius, Cone-shaped epiphysis, Finger syndactyly, Absent ha...	ORPHA:2911
Townes-Brocks Syndrome 1	Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Pseudoepiphyses of second metacarpal,...	OMIM:107480
Cardiogenic Shock	Cyanosis, Oliguria, Hypoxemia	ORPHA:97292
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of finger, Abnormal m...	ORPHA:284160
Poems Syndrome	Acrocyanosis, Pleural effusion, Plethora	ORPHA:2905
Stolerman Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Broad palm, Syndactyly	OMIM:618505
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Lissencephaly, Abnormal cortical gyration, Broad thumb, Finger syndactyly, Polymicrogyria, Preaxi...	ORPHA:2211
Cardiac Valvular Dysplasia 2	Pulmonary artery dilatation, Central cyanosis	OMIM:620067
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Buphthalmos, Microphthalmia	OMIM:221900
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Pulmonary edema, Tachypnea, Death in infancy	OMIM:220111
Oculoauricular Syndrome	Spina bifida occulta, Macular hypoplasia, Phthisis bulbi, Microphthalmia, Microphakia	OMIM:612109
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Diffuse white matter abnormalities, Ventriculomegaly, Cerebral cortical atrophy, Arachnodactyly, ...	ORPHA:457359
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Small hand, Ventriculomegaly, Clinodactyly, Cerebral atrophy, Overlapping toe, Hypoplasia of the ...	OMIM:309590
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Submucous cleft hard pala...	ORPHA:2250
Hartsfield Syndrome	Ectrodactyly, Agenesis of corpus callosum, Gonadotropin deficiency, Microcephaly, Syndactyly	OMIM:615465
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia	OMIM:253800
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Short thumb, Radioulnar synostosis, Hypoplasia of the radius, Hypopla...	OMIM:263750
Autosomal Recessive Robinow Syndrome	Short distal phalanx of finger, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, El...	ORPHA:1507
Fanconi Anemia, Complementation Group N	Postnatal growth retardation, Microphthalmia	OMIM:610832
Joubert Syndrome 17	Hyperventilation, Abnormal renal morphology, Ataxia	OMIM:614615
Telangiectasia, Hereditary Hemorrhagic, Type 2	Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia...	OMIM:600376
Simpson-Golabi-Behmel Syndrome	Congenital hip dislocation, Broad thumb, Toe syndactyly, Finger syndactyly, Short toe, Camptodact...	ORPHA:373
Fanconi Anemia, Complementation Group C	Short stature, Intrauterine growth retardation, Microphthalmia	OMIM:227645
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomega...	ORPHA:51
Hyperoxaluria, Primary, Type I	Nephrocalcinosis, Cutis marmorata, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinar...	OMIM:259900
Cardiofaciocutaneous Syndrome	Hydronephrosis, High palate, Long philtrum, Submucous cleft hard palate	ORPHA:1340
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Finger swelling, Ventriculomegaly, Wrist swelling, Camptodactyly o...	OMIM:309000
Mycophenolate Mofetil Embryopathy	Hydrops fetalis, Microphthalmia	ORPHA:268249
Cardiac Valvular Dysplasia 1	Hydroureter, Urethral diverticulum, Cyanosis, Hydronephrosis, Pulmonary artery atresia	OMIM:212093
Tropical Endomyocardial Fibrosis	Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Ascites, Right ventri...	ORPHA:75565
Malignant Hyperthermia Of Anesthesia	Tachypnea, Hypercapnia	ORPHA:423
Peters-Plus Syndrome	Rhizomelia, Abnormal pelvic girdle bone morphology, Square pelvis bone, Short toe, Ventriculomega...	OMIM:261540
Ring Chromosome 7 Syndrome	Short 5th finger, Slender finger, Small hand, Ventriculomegaly, Cerebral cortical atrophy, 3-4 to...	ORPHA:1449
Otopalatodigital Syndrome, Type Ii	Respiratory insufficiency, Narrow mouth, Hydronephrosis, Stillbirth, Hypospadias, Respiratory fai...	OMIM:304120
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short stature, Postnatal growth retardation, Rhizomelia, Microphthalmia	OMIM:608940
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Cyanosis, Anomalous pulmonary venous return	ORPHA:99104
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Spontaneous, recurrent epistaxis, P...	OMIM:610655
Pseudotrisomy 13 Syndrome	Encephalocele, Microphthalmia	OMIM:264480
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Clinodactyly, Brachydactyly, Camptodactyly, Short phalanx of finger, Mesomelia, Synd...	OMIM:616894
Vater/Vacterl Association	Choanal atresia, Hypospadias, Occipital encephalocele, Renal agenesis, Postnatal growth retardati...	OMIM:192350
Rubinstein-Taybi Syndrome 1	Broad distal phalanx of finger, Broad thumb, Radial deviation of thumb terminal phalanx, Short th...	OMIM:180849
Holoprosencephaly-Postaxial Polydactyly Syndrome	Polyhydramnios, Umbilical hernia, Encephalocele, Microphthalmia	ORPHA:2166
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Hypoplastic iliac wing, Ulnar bowi...	OMIM:263650
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia	OMIM:601812
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Severe short stature, Rhizomelia, Microphthalmia	ORPHA:85167
Cat Eye Syndrome	Umbilical hernia, Microphthalmia	OMIM:115470
Criss-Cross Heart	Cyanosis	ORPHA:1461
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Tachypnea	OMIM:615751
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Autosomal Recessive Spondylocostal Dysostosis	Microcephaly, Finger syndactyly, Camptodactyly of finger	ORPHA:2311
Treacher Collins Syndrome 1	Cleft soft palate, Narrow mouth, Wide mouth, Abnormal parotid gland morphology, Cleft palate	OMIM:154500
Marfan Syndrome	Emphysema, Pneumothorax, Pulmonary artery dilatation	OMIM:154700
Eec Syndrome	Toe syndactyly, Finger syndactyly, Ectrodactyly, Decreased response to growth hormone stimulation...	ORPHA:1896
Cousin Syndrome	Hydranencephaly, Disproportionate short stature, Rhizomelia, Microphthalmia	OMIM:260660
Gabriele-De Vries Syndrome	Ventriculomegaly, Sandal gap, Decreased response to growth hormone stimulation test, Sydney creas...	ORPHA:506358
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	2-3 toe cutaneous syndactyly, Talipes equinovarus, Cutaneous syndactyly, Camptodactyly, 3-4 finge...	OMIM:620029
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Bilateral single transverse palmar creases, H...	OMIM:216340
Hypermobile Ehlers-Danlos Syndrome	Apnea, Acrocyanosis	ORPHA:285
Fanconi Anemia, Complementation Group E	Short stature, Microphthalmia	OMIM:600901
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Short stature, Unilateral microphthalmos	OMIM:618874
Fanconi Anemia, Complementation Group L	Intrauterine growth retardation, Growth delay, Microphthalmia	OMIM:614083
Meester-Loeys Syndrome	Ventriculomegaly, Broad distal phalanx of finger, Arachnodactyly, Brachydactyly, Camptodactyly	OMIM:300989
Incontinentia Pigmenti	Spina bifida occulta, Umbilical hernia, Microphthalmia	ORPHA:464
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal cupping, Irregular iliac crest, Ventriculomegaly, Broad carpal bones, Metaphyseal cho...	ORPHA:99646
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Abnormal hip bone morpholo...	ORPHA:261318
Jacobsen Syndrome	Macular hypoplasia, Intrauterine growth retardation, Microphthalmia	OMIM:147791
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Toe syndactyly, Palmoplantar hyperkeratosis, Finger syndactyly, Bilateral single transverse palma...	ORPHA:3253
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Cardiomegaly, Ventricular septal defect	ORPHA:96191
Momo Syndrome	Short stature, Bilateral microphthalmos	ORPHA:2563
Meckel Syndrome	Oligohydramnios, Aplasia/Hypoplasia of the iris, Encephalocele, Anophthalmia, Microphthalmia, Ane...	ORPHA:564
Fanconi Anemia, Complementation Group A	Short stature, Microphthalmia	OMIM:227650
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Holoprosencephaly 3	Microcephaly, Ventriculomegaly	OMIM:142945
Grange Syndrome	Brachydactyly, Finger clinodactyly, Syndactyly	OMIM:602531
Hallermann-Streiff Syndrome	Proportionate short stature, Spina bifida, Microphthalmia	OMIM:234100
Degcags Syndrome	Ventriculomegaly, Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Polydactyl...	OMIM:619488
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Faciodigitogenital Syndrome, Autosomal Recessive	Down-sloping shoulders, Broad palm, Metatarsus adductus, Camptodactyly, Clinodactyly of the 5th f...	OMIM:227330
Microphthalmia, Syndromic 1	Growth delay, Pulmonary hypoplasia	OMIM:309800
Acrofrontofacionasal Dysostosis 1	Short stature, Microphthalmia	OMIM:201180
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Slender finger, Small hand, Congenital hip dislocation, Ventriculomegaly, Abnormal cortical gyrat...	ORPHA:480880
Roberts-Sc Phocomelia Syndrome	Finger aplasia, Absent thumb, Clinodactyly, Radial deviation of finger, Stillbirth, Elbow flexion...	OMIM:268300
Arima Syndrome	Dyspnea, Tachypnea, Growth delay	OMIM:243910
Marfan Syndrome	Emphysema, Spontaneous pneumothorax, Pulmonary artery dilatation	ORPHA:558
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Postnatal growth retardation, Intrauterine growth retardation, Short st...	ORPHA:93325
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Synostosis involving the 1st metacarpal, Hypoplasia of the corpus callosum, Dysplastic corpus cal...	ORPHA:466791
Atrial Septal Defect, Ostium Secundum Type	Pneumonia, Cyanosis	ORPHA:99103
Mckusick-Kaufman Syndrome	Postaxial foot polydactyly, Finger syndactyly, Abnormal metacarpal morphology, Brachydactyly, Pos...	ORPHA:2473
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Monosomy 13Q14	Short stature, Intrauterine growth retardation, Microphthalmia	ORPHA:1587
Incontinentia Pigmenti	Hypoplasia of the fovea, Short stature, Microphthalmia	OMIM:308300
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia	OMIM:243605
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Syndactyly	OMIM:129400
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly, Pineal cyst, Metatarsus adduct...	ORPHA:513456
Ctcf-Related Neurodevelopmental Disorder	Ventriculomegaly, Prominent fingertip pads, Sandal gap, Joint contracture of the 5th finger, Sing...	ORPHA:363611
Kenny-Caffey Syndrome, Type 2	Severe short stature, Microphthalmia	OMIM:127000
Cornelia De Lange Syndrome	Cerebral cortical atrophy, Small hand, Toe syndactyly, Short 1st metacarpal, Micromelia, Elbow di...	ORPHA:199
White-Kernohan Syndrome	Dysplastic corpus callosum, Hip dysplasia	OMIM:619426
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve	ORPHA:91387
Cockayne Syndrome B	Severe short stature, Hypoplasia of the iris, Postnatal growth retardation, Intrauterine growth r...	OMIM:133540
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Autosomal Dominant Popliteal Pterygium Syndrome	Toe syndactyly, Split hand, Finger syndactyly	ORPHA:1300
Coffin-Siris Syndrome 12	Hypospadias, Elevated circulating hepatic transaminase concentration, Velopharyngeal insufficienc...	OMIM:619325
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Splenomegaly, Cardiomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly	OMIM:256040
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Wide nasal bridge, Head-banging, Anteverted nares, Phimosis, Hypoventilation, Attention deficit h...	OMIM:620455
Basal Cell Nevus Syndrome 1	Spina bifida, Microphthalmia	OMIM:109400
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Intrauterine growth retardation, Microphthalmia, Polyhydramnios, Short stature	OMIM:620186
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe postnatal growth retardation, Intrauterine growth retardation, Microphthalmia	OMIM:620005
Bloom Syndrome	Clinodactyly of the 5th finger, Hand polydactyly, Microcephaly, Syndactyly	OMIM:210900
Craniofacial Microsomia 1	Pulmonary hypoplasia	OMIM:164210
Eisenmenger Syndrome	Renal insufficiency, Cyanosis, Lethargy, Aortopulmonary window, Hypoxemia	ORPHA:97214
Monosomy 22	Finger syndactyly, Single transverse palmar crease, Microcephaly, Clinodactyly of the 5th finger,...	ORPHA:96123
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Absent distal phalanges, Arachnodactyly, Talipes equinovarus, Post...	OMIM:610168
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Peters Plus Syndrome	Cerebral cortical atrophy, Rhizomelia, Toe syndactyly, Ventriculomegaly, Short toe, Micromelia, A...	ORPHA:709
Microgastria-Limb Reduction Defect Syndrome	Growth delay, Anophthalmia, Microphthalmia	ORPHA:2538
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Adult Syndrome	Toe syndactyly, Finger syndactyly, Split foot	ORPHA:978
Charge Syndrome	Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, Anophthalmia, De...	ORPHA:138
Microphthalmia, Syndromic 2	Bifid uvula, Hypospadias, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Persiste...	OMIM:300166
Saethre-Chotzen Syndrome	Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe...	OMIM:101400
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Tachypnea	ORPHA:415
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Elbow dislocation, Camptodactyly of finger, Micromelia, Avascular necrosis of ...	ORPHA:3107
Hallermann-Streiff Syndrome	Proportionate short stature, Microphthalmia	ORPHA:2108
Treacher-Collins Syndrome	Branchial fistula, Encephalocele, Microphthalmia	ORPHA:861
Lacrimoauriculodentodigital Syndrome	Toe syndactyly, Absent thumb, Finger syndactyly, Clinodactyly, Short thumb, Abnormal thumb morpho...	ORPHA:2363
Trichothiodystrophy	Intrauterine growth retardation, Bilateral microphthalmos, Umbilical hernia	ORPHA:33364
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Ascites, Medullary nephroca...	ORPHA:51608
Rothmund-Thomson Syndrome, Type 2	Short stature, Microphthalmia	OMIM:268400
Fanconi Anemia, Complementation Group D2	Short stature, Microphthalmia	OMIM:227646
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bifid uvula, Recurrent respiratory infections, Neoplasm of the tongue, Submucous cleft hard palate	ORPHA:3047
Tolchin-Le Caignec Syndrome	Attention deficit hyperactivity disorder, High palate, Narrow mouth, Submucous cleft hard palate	OMIM:618971
Mowat-Wilson Syndrome	Tooth malposition, Abnormal enteric ganglion morphology, Delayed eruption of teeth, Widely spaced...	OMIM:235730
Cranioectodermal Dysplasia 2	Rhizomelia, Clinodactyly, Polydactyly, Brachydactyly, Postaxial hand polydactyly, Mesomelia, Synd...	OMIM:613610
Holoprosencephaly 7	Occipital meningocele, Bilateral microphthalmos, Microphthalmia	OMIM:610828
Osteoporosis-Pseudoglioma Syndrome	Short stature, Phthisis bulbi, Microphthalmia	OMIM:259770
Constricting Bands, Congenital	Talipes equinovarus, Hand polydactyly, Syndactyly	OMIM:217100
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Down-sloping shoulders, Brachydactyly, Clinodactyly of the 5th finger, Short foot	ORPHA:1974
Robinow Syndrome	Short distal phalanx of finger, Radioulnar dislocation, Bifid distal phalanx of the thumb, Brachy...	ORPHA:97360
Doors Syndrome	Short 5th finger, Short distal phalanx of finger, Polymicrogyria, Sirenomelia, Aplasia/Hypoplasia...	ORPHA:79500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Polymicrogyria, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosu...	OMIM:253280
Mend Syndrome	Short stature, Microphthalmia	ORPHA:401973
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Cockayne Syndrome Type 3	Mild postnatal growth retardation, Microphthalmia	ORPHA:90324
Chromosome 13Q14 Deletion Syndrome	Umbilical hernia, Microphthalmia	OMIM:613884
Cockayne Syndrome	Severe short stature, Postnatal growth retardation, Delayed puberty, Microphthalmia, Growth delay	ORPHA:191
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Hydrolethalus Syndrome 1	Polyhydramnios, Intrauterine growth retardation, Anencephaly, Microphthalmia	OMIM:236680
Acute Liver Failure	Acute kidney injury, Bruising susceptibility, Hypocapnia, Ataxia, Hyperventilation, Jaundice, Agi...	ORPHA:90062
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Abnormal metacarpal mor...	ORPHA:2907
Proteus Syndrome	Pulmonary cyst, Bronchogenic cyst, Thymus hyperplasia, Abnormal lung lobation, Neoplasm of the th...	ORPHA:744
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Exercise-Induced Malignant Hyperthermia	Hypocapnia, Tachypnea	ORPHA:466650
Neuroocular Syndrome 1	Short uvula, Downturned corners of mouth, Widely spaced teeth, Ankyloglossia, Submucous cleft har...	OMIM:619539
Holoprosencephaly 9	Anophthalmia, Microphthalmia, Short stature, Occipital meningocele, Optic nerve hypoplasia	OMIM:610829
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving the shoulder musculature, Unilateral brachydactyly, Syndactyly	ORPHA:1521
Phace Syndrome	Lens coloboma, Optic nerve hypoplasia, Microphthalmia	ORPHA:42775
Cutis Marmorata Telangiectatica Congenita	Toe syndactyly, Short lower limbs, Finger syndactyly, Abnormality of the upper limb	ORPHA:1556
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Holoprosencephaly 2	Bifid uvula, Median cleft palate, Submucous cleft hard palate, Bilateral cleft palate, Median cle...	OMIM:157170
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Finger syndactyly, Postaxial polydactyly, Talipes equin...	ORPHA:110
Focal Dermal Hypoplasia	Umbilical hernia, Myelomeningocele, Aniridia, Anophthalmia, Microphthalmia, Spina bifida occulta	OMIM:305600
Trichorhinophalangeal Syndrome, Type Ii	2-4 toe syndactyly, Cone-shaped epiphyses of the phalanges of the hand, Avascular necrosis of the...	OMIM:150230
Monosomy 9P	Microphthalmia	ORPHA:261112
Congenitally Corrected Transposition Of The Great Arteries	Pulmonary artery atresia, Cyanosis	ORPHA:216694
8Q24.3 Microdeletion Syndrome	Infancy onset short-trunk short stature, Branchial cyst, Bilateral microphthalmos, Intrauterine g...	ORPHA:508488
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Renpenning Syndrome 1	Short stature, Microphthalmia	OMIM:309500
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Genu varum	ORPHA:1969
Charge Syndrome	Umbilical hernia, Postnatal growth retardation, Unilateral microphthalmos, Anophthalmia, Delayed ...	OMIM:214800
Proboscis Lateralis	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	ORPHA:141099
Hennekam Syndrome	Pachygyria, Finger syndactyly, Camptodactyly of finger	ORPHA:2136
Pallister-Hall Syndrome	Umbilical hernia, Intrauterine growth retardation, Oligohydramnios, Microphthalmia, Short stature	ORPHA:672
Kindler Epidermolysis Bullosa	Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short...	ORPHA:2908
Holoprosencephaly 1	Short stature, Microphthalmia	OMIM:236100
Specc1L-Related Hypertelorism Syndrome	Clinodactyly of the 5th finger, Short toe, Brachydactyly, Finger syndactyly	ORPHA:1519
Branchiooculofacial Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Branchial anomaly, Anophthalmia, M...	OMIM:113620
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv...	OMIM:182250
Norrie Disease	Hypoplasia of the iris, Delayed puberty, Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:649
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Toe clinodactyly, Sandal gap, Microcephaly, Cutaneous syndactyly, Long fingers	OMIM:620330
Sotos Syndrome	Pulmonary bleb, Small cell lung carcinoma, Hypothyroidism	ORPHA:821
African Trypanosomiasis	Abnormality of circulating cortisol level, Abnormality of renin-angiotensin system, Abnormal grow...	ORPHA:3385
Townes-Brocks Syndrome	Short stature, Delayed puberty, Microphthalmia	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

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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)	Dhcr7^{tm1a(EUCOMM)Hmgu}	PMC7890206

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MGI Allele	Allele Type	Produced
Dhcr7^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Dhcr7^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Dhcr7^{tm44428(L1L2_gt2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Dhcr7 MGI:1298378

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Gross Morphology Embryo E14.5-E15.5

MicroCT E14.5-E15.5

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