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

80 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 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 (2341 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		Abnormal lung lobation, Death in infancy, Short stature, Growth delay, Precocious puberty, Pulmon...	OMIM:270400
Smith-Lemli-Opitz Syndrome		Abnormal lung lobation, Rhizomelia, Short stature, Growth delay, Pulmonary hypoplasia, Intrauteri...	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	Megalencephaly, Hydrocephalus, Polymicrogyria, Postaxial hand polydactyly, Syndactyly, Ventriculo...	OMIM:615938
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Leukoencephalopathy With Vanishing White Matter 5	Megalencephaly, Dilated third ventricle, Abnormal cerebral white matter morphology, Lateral ventr...	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	Apnea, Pulmonary hypoplasia, Neonatal death	OMIM:615228
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Synpolydactyly 1	Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th...	OMIM:186000
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Small cerebral cortex, Microcephaly, Simplified gyral pattern, Abnormal cerebral morphology, Vent...	ORPHA:329228
Pontocerebellar Hypoplasia, Type 12	Cerebral atrophy, Rocker bottom foot, Cerebral hypoplasia, Lateral ventricle dilatation, Primary ...	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	Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Postaxial hand polydactyly, Hem...	OMIM:615937
Chudley-Mccullough Syndrome	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Hydrocephalus, Polymicrogyria, Ven...	OMIM:604213
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Ventriculomegaly, Mild mal...	ORPHA:500166
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl...	OMIM:174500
Cerebral Palsy, Spastic Quadriplegic, 2	Ventriculomegaly	OMIM:612900
Syndactyly Type 2	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap...	ORPHA:93403
Band Heterotopia	Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, Lateral ventricle dilatation, Subcort...	OMIM:600348
Ventriculomegaly And Arthrogryposis	Hand clenching, Ulnar deviation of the wrist, Agenesis of corpus callosum, Ventriculomegaly, Tali...	OMIM:619501
Bronchopulmonary Dysplasia	Emphysema, Atelectasis, Respiratory distress, Pulmonary sequestration, Dyspnea, Abnormal lung mor...	ORPHA:70589
Masa Syndrome	Clinodactyly of the 5th finger, Camptodactyly of finger, Hand clenching, Agenesis of corpus callo...	ORPHA:2466
Cortical Dysplasia, Complex, With Other Brain Malformations 5	Hypoplasia of the corpus callosum, Cortical dysplasia, Reduced cerebral white matter volume, Simp...	OMIM:615763
Syndactyly, Type Iii	4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4...	OMIM:186100
Syndactyly Type 1	Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger...	ORPHA:93402
Polymicrogyria Due To Tubb2B Mutation	Hypoplasia of the corpus callosum, Cavum septum pellucidum, Polymicrogyria, Cortical dysplasia, A...	ORPHA:300573
Intellectual Developmental Disorder, X-Linked 103	Polymicrogyria, Short palm, Lateral ventricle dilatation	OMIM:300982
Martsolf Syndrome 2	Hypoplasia of the corpus callosum, Camptodactyly, Microcephaly, Camptodactyly of finger, Lateral ...	OMIM:619420
Surfactant Metabolism Dysfunction, Pulmonary, 3	Exertional dyspnea, Reticular pattern on pulmonary HRCT, Crazy paving pattern, Death in infancy, ...	OMIM:610921
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu...	ORPHA:3246
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia	OMIM:619887
Unilateral Hemispheric Polymicrogyria	Cortical dysplasia, Thick cerebral cortex, Lateral ventricle dilatation, Cerebral hypoplasia	ORPHA:101071
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Surfactant Metabolism Dysfunction, Pulmonary, 1	Intraalveolar phospholipid accumulation, Dyspnea, Death in infancy, Apnea, Interlobular septal th...	OMIM:265120
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Abnormal per...	OMIM:613443
Microcephaly 19, Primary, Autosomal Recessive	Hypoplasia of the corpus callosum, Simplified gyral pattern, Ventriculomegaly, Microcephaly	OMIM:617800
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Talipes equinovarus, Lateral ventricle dilatation, Short corpus callosum	OMIM:619972
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Adducted thumb, Cerebral white matter hypoplasia, Microcephaly, Cerebral cortical atrophy, Ventri...	ORPHA:3207
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Microlissencephaly	Hypoplasia of the corpus callosum, Cerebral dysmyelination, Polymicrogyria, Thick cerebral cortex...	ORPHA:1083
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Cerebral atrophy, Hypoplasia of the corpus callosum, Polymicrogyria, Cerebral white matter hypopl...	OMIM:618730
Lethal Congenital Contracture Syndrome 11	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:617194
Laryngotracheoesophageal Cleft	Aspiration, Choking episodes, Impaired oropharyngeal swallow response, Recurrent respiratory infe...	ORPHA:2004
Coenzyme Q10 Deficiency, Primary, 8	Intrauterine growth retardation, Pulmonary hypoplasia, Postnatal growth retardation, Respiratory ...	OMIM:616733
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Ventriculomegaly, Primary microcephaly, Agenesis of corpus callosum	ORPHA:171703
Lissencephaly 1	Secondary microcephaly, Agyria, Abnormal cerebral white matter morphology, Pachygyria, Subcortica...	OMIM:607432
Combined Oxidative Phosphorylation Deficiency 8	Death in childhood, Pulmonary hypoplasia, Neonatal death, Death in infancy	OMIM:614096
Primary Pulmonary Hypoplasia	Pneumothorax, Cyanosis, Recurrent respiratory infections, Hypoxemia, Apnea, Pulmonary hypoplasia,...	ORPHA:2257
Congenital Diaphragmatic Hernia	Hypoxemia, Pulmonary hypoplasia, Respiratory distress	ORPHA:2140
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Triphalangeal Thumb With Polysyndactyly	Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po...	OMIM:190605
Lissencephaly 4	Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Lissencephaly, Primary micro...	OMIM:614019
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Bowen-Conradi Syndrome	Abnormal lung lobation, Severe postnatal growth retardation, Severe intrauterine growth retardati...	ORPHA:1270
Brain-Lung-Thyroid Syndrome	Abnormal pulmonary interstitial morphology, Hypospadias, Falls, Hyperactivity, Hypodontia, Vesico...	ORPHA:209905
Mitochondrial Complex I Deficiency, Nuclear Type 35	Intrauterine growth retardation, Neonatal death, Pulmonary hypoplasia	OMIM:619003
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Bronchiectasis, Recurrent respiratory infections, Atelectasis, Respiratory distress	OMIM:619466
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly	OMIM:234280
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor...	ORPHA:1891
Gombo Syndrome	Delayed puberty, Microphthalmia	OMIM:233270
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Adrenal hypoplasia, Pulmonary hypoplasia	OMIM:613124
Brachydactyly Type A7	Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal...	ORPHA:93397
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Inability to walk, Tremor, Elevated circulati...	ORPHA:90117
Brachydactyly, Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short...	OMIM:112600
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Cerebral atrophy, Dilated third ventricle, Corpus callosum atrophy, Microcephaly, Simplified gyra...	OMIM:619244
Polymicrogyria, Bilateral Temporooccipital	Ventriculomegaly	OMIM:612691
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Atelectasis, Respiratory distress, Dyspnea, Tachypnea	OMIM:267450
Spastic Paraplegia 88, Autosomal Dominant	Ventriculomegaly, Thin corpus callosum	OMIM:620106
Leukoencephalopathy, Progressive, With Ovarian Failure	Progressive leukoencephalopathy, Periventricular leukomalacia, Leukoencephalopathy, Lateral ventr...	OMIM:615889
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Hypoplasia of the corpus callosum, Lissencephaly, Ventriculomegaly, Thick cerebral cortex	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	Microcephaly, Cerebral cortical atrophy, Abnormal cerebral white matter morphology, Lateral ventr...	OMIM:617668
Microcephaly, Seizures, And Developmental Delay	Hypoplasia of the corpus callosum, Progressive microcephaly, Microcephaly, Simplified gyral patte...	OMIM:613402
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Recurrent upper respiratory tract infection...	OMIM:263000
Urofacial Syndrome 2	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro...	OMIM:615112
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:2631
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Death in adolescence, Elevated circulating creatine kinase concentration, Respiratory insufficien...	OMIM:300717
Hemiparkinsonism-Hemiatrophy Syndrome	Cerebral cortical hemiatrophy, Lateral ventricle dilatation, Hemiatrophy	ORPHA:306669
Microcephaly 5, Primary, Autosomal Recessive	Hypoplasia of the corpus callosum, Cortical dysplasia, Small cerebral cortex, Microcephaly, Simpl...	OMIM:608716
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Dyspnea, Hemosiderin-laden macrophages in bronchoalve...	OMIM:616414
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Cortical dysplasia, Abnormal corpus callosum morphology, Microcephaly, Ventriculom...	OMIM:618709
Syndactyly, Type Iv	Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta...	OMIM:186200
Perching Syndrome	Cyanosis, High palate, Dysphagia, Depressed nasal bridge	OMIM:617055
Spinocerebellar Ataxia Type 8	Bradykinesia, Limb ataxia, Urinary incontinence, Aspiration, Gait ataxia, Ataxia, Dysphagia, Unst...	ORPHA:98760
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Difficulty walking, Inability to walk, Abnormal circulating enzyme concentration or activity, Tre...	ORPHA:2590
Opitz Gbbb Syndrome	Rectourethral fistula, Hypospadias, Anteverted nares, Aspiration, Vesicoureteral reflux, High pal...	OMIM:300000
Alg2-Cdg	Hypoplasia of the corpus callosum, Abnormal basal ganglia MRI signal intensity, Microcephaly, Lat...	ORPHA:79326
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Hypoplasia of the corpus callosum, Femur fracture, Adducted thumb, Single transverse palmar creas...	OMIM:618291
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Forearm undergrowth, Bowed forearm bones, Absent thumb, Lateral ventricle dilatati...	OMIM:602200
Spinal Muscular Atrophy, Type I	Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections, Death in childhood	OMIM:253300
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Cerebrooculofacioskeletal Syndrome 3	Intrauterine growth retardation, Microphthalmia, Edema	OMIM:616570
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Cerebral atrophy, Megalencephaly, Diffuse white matter abnormalities, Diffuse swelling of cerebra...	OMIM:613925
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia	OMIM:616531
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Ventriculomegaly, Agyria, Enlarged sylvian cistern, Pachygyria	ORPHA:1084
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Basal ganglia ...	ORPHA:79243
Hypotonia, Infantile, With Psychomotor Retardation	Hypoplasia of the corpus callosum, Lateral ventricle dilatation	OMIM:616816
Basel-Vanagaite-Smirin-Yosef Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Overlapping fingers, Cavum septum pellucidum...	ORPHA:464738
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Combined Oxidative Phosphorylation Deficiency 52	Anorexia, Hepatic steatosis, Aminoaciduria, Pancreatitis, Elevated circulating creatine kinase co...	OMIM:619386
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Hypoplasia of the corpus callosum, Progressive microcephaly, Bilateral talipes equinovarus, Micro...	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	Hydrocephalus, Rhizomelia, 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	Neutrophilia, Splenomegaly	OMIM:162830
Familial Nasal Acilia	Atelectasis, Respiratory distress, Dyspnea, Abnormal respiratory motile cilium morphology, Recurr...	ORPHA:922
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Short stature, Pulmonary hypoplasia	OMIM:618174
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic leg shortening, Early ossification of capital femoral epiphyses, Abnormal basal gangli...	ORPHA:397715
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Syndactyly Type 5	Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge...	ORPHA:93406
Renal Tubular Dysgenesis	Pulmonary hypoplasia	ORPHA:3033
Halperin-Birk Syndrome	Semilobar holoprosencephaly, Death in childhood, Inability to walk, Aspiration, High palate, Intr...	OMIM:618651
Polydactyly, Postaxial, Type A1	Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa...	OMIM:174200
Spinal Muscular Atrophy With Mental Retardation	Microcephaly, Syndactyly	OMIM:271109
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Meconium Aspiration Syndrome	Pneumothorax, Atelectasis, Maternal diabetes, Respiratory distress, Aspiration pneumonia, Hypoxem...	ORPHA:70588
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Atelectasis, Nasal flaring, Hypoxemia, Respiratory tract infection, Pneumonia, T...	ORPHA:70587
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Clinodactyly of the 5th finger, Tapered toe, Dilated third ventricle,...	ORPHA:544488
Congenital Disorder Of Glycosylation, Type Iiy	Hip subluxation, Thin corpus callosum, Microcephaly, Cerebral cortical atrophy, Agenesis of corpu...	OMIM:620200
Wahab Syndrome	Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,...	OMIM:615170
Microphthalmia-Brain Atrophy Syndrome	Microcephaly, Diffuse cerebral atrophy, Lateral ventricle dilatation, Corpus callosum atrophy	ORPHA:77299
Pontocerebellar Hypoplasia, Type 1A	Neuronal loss in basal ganglia, Microcephaly, Basal ganglia gliosis, Cerebral cortical atrophy, L...	OMIM:607596
Masa Syndrome	Adducted thumb, Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Ventriculomegaly, Talip...	OMIM:303350
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Congenital Lobar Emphysema	Emphysema, Respiratory distress	ORPHA:1928
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure, Abnormality of the liver...	ORPHA:132
Phosphoserine Aminotransferase Deficiency	Apnea, Cyanotic episode, Death in infancy	OMIM:610992
Bonnemann-Meinecke-Reich Syndrome	Microcephaly, Cerebral calcification, Ventriculomegaly, Decreased response to growth hormone stim...	ORPHA:1261
Alg13-Cdg	Abnormal lateral ventricle morphology, Adducted thumb	ORPHA:324422
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormality of the hand, Basal ganglia calci...	OMIM:221770
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Hydrocephalus, Cerebral white ma...	ORPHA:500055
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Cerebral atrophy, Dilated third ventricle, Partial agenesis of the corpus callosum, Lateral ventr...	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, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Lissencephaly 3	Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, Microcephaly, Agenesis of corpus callo...	OMIM:611603
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broad hallux phalanx, ...	ORPHA:380
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Ventriculomegaly	ORPHA:1568
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Lateral ventricle dilatation, ...	OMIM:613154
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Inability to walk, Respiratory insufficiency, Elevated circulating creatine kinase concentration,...	ORPHA:266
Polydactyly, Postaxial, Type A5	Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly	OMIM:263450
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Hypoplasia of the corpus callosum, Microcephaly, Lateral ventricle dilatation	OMIM:618890
Esophageal Atresia	Recurrent respiratory infections, Bronchitis, Aspiration, Barrett esophagus, Choanal atresia, Tra...	ORPHA:1199
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Microcephaly, Thin corpus callosum, Partial agenesis of the corpus callosum, Lateral ventricle di...	OMIM:619517
Moyamoya Disease	Ventriculomegaly	ORPHA:2573
Epilepsy, Progressive Myoclonic, 9	Ventriculomegaly, Short thumb, Simplified gyral pattern, Agenesis of corpus callosum	OMIM:616540
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent urinary tract infections, Nephrolithiasis, Megacystis, Fetal pyelectasis, Recurrent res...	OMIM:619365
Camptosynpolydactyly, Complex	Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly	OMIM:607539
Leukoencephalopathy With Vanishing White Matter 4	Cerebral cortical atrophy, Ventriculomegaly, Leukoencephalopathy, 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	Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis	ORPHA:71289
Asparagine Synthetase Deficiency	Hypoplasia of the corpus callosum, Thin corpus callosum, Progressive microcephaly, Cortical dyspl...	OMIM:615574
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Syndactyly Type 3	Finger syndactyly, Camptodactyly of finger, Short toe	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	Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s...	ORPHA:157801
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia	ORPHA:2141
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Bilateral talipes equinovaru...	ORPHA:284417
Recurrent Respiratory Papillomatosis	Atelectasis, Respiratory distress, Dyspnea, Abnormal lung morphology, Recurrent pneumonia, Recurr...	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	Hypoplasia of the corpus callosum, Subependymal cysts, Camptodactyly, Micromelia, Neonatal death,...	OMIM:610015
Visceral Myopathy 2	Intestinal obstruction, Rectal prolapse, Intestinal pseudo-obstruction, Necrotizing enterocolitis...	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)	Neonatal death, Colpocephaly, Pachygyria, Epiphyseal stippling	OMIM:614870
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Cerebral atrophy, Hypoplasia of the corpus callosum, Spindle-shaped finger, Genu valgum, Delayed ...	ORPHA:166024
Cardiomyopathy, Familial Restrictive, 1	Ventriculomegaly	OMIM:115210
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Agenesis of corpus callosum, Ventriculome...	OMIM:614120
Macrocephaly, Acquired, With Impaired Intellectual Development	Ventriculomegaly, Thin corpus callosum, Probst bundles, Agenesis of corpus callosum	OMIM:618286
Immunodeficiency 95	Respiratory failure, Recurrent respiratory infections, Recurrent viral upper respiratory tract in...	OMIM:619773
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ...	OMIM:605289
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas...	OMIM:609432
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Microcephaly, Agenesis of corpus callosum, Dandy-Walker malformation, Lateral ventricle dilatation	OMIM:618736
Spastic Paraplegia 45, Autosomal Recessive	Hypoplasia of the corpus callosum, Talipes equinovarus, Dysplastic corpus callosum	OMIM:613162
Familial Scaphocephaly Syndrome, Mcgillivray Type	Ventriculomegaly, Toe syndactyly, Broad hallux phalanx	ORPHA:168624
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Cerebral atrophy, Ventriculomegaly, Partial agenesis of the corpus callosum, Agenesis of corpus c...	ORPHA:85179
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm...	OMIM:610978
Seizures, Benign Familial Infantile, 3	Apnea, Cyanosis	OMIM:607745
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Intraalveolar phospholipid accumulation, Dyspnea, Nonspecific interstitial ...	OMIM:610913
Congenital Myopathy 10A, Severe Variant	Respiratory insufficiency, High palate, Elevated circulating creatine kinase concentration, Cleft...	OMIM:614399
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Lissencephaly Due To Tuba1A Mutation	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Hypoplastic anteri...	ORPHA:171680
Slc35A2-Cdg	Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormality of the hand, Hip subluxation, Ab...	ORPHA:356961
Odontochondrodysplasia 1	Mesomelic short stature, Respiratory distress, Death in infancy, Short stature, Pulmonary hypopla...	OMIM:184260
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Exertional dyspnea, Pleural thickening, Atelectasis, ...	ORPHA:2302
Rett Syndrome, Congenital Variant	Tongue thrusting, Aspiration, Athetosis, Motor stereotypy, Bruxism, Bulbous nose, Depressed nasal...	OMIM:613454
Adams-Oliver Syndrome 2	Cerebral atrophy, Hydrocephalus, Polymicrogyria, Single transverse palmar crease, Absent distal p...	OMIM:614219
Vocal Cord And Pharyngeal Distal Myopathy	Aspiration, Difficulty walking, Unsteady gait, Dysphagia	ORPHA:600
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Thin corpus callosum, Cortical dysplasia, Dysgenesis of the basal ganglia, Dilated fourth ventric...	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	Cyanosis, Atelectasis, Dyspnea, Pleural effusion, Bronchiectasis, Hypoxemia, Interlobular septal ...	ORPHA:79126
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Stillbirth, Abnormal hip bone morphology, Upper limb phocomelia, Syndactyly	ORPHA:294975
Congenital Arthrogryposis With Anterior Horn Cell Disease	Difficulty walking, Inability to walk, High palate, Dystonia, Respiratory insufficiency due to mu...	OMIM:611890
Intellectual Developmental Disorder, Autosomal Recessive 69	Ventriculomegaly	OMIM:618383
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Dyspnea, Hypoxemia, Respiratory tract in...	ORPHA:79127
High Altitude Pulmonary Edema	Pulmonary edema, Dyspnea, Hypoxemia, Orthopnea, Tachypnea, Cyanosis	ORPHA:330012
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Hypoplasia of the corpus callosum, Sandal gap, Joint contracture of the 5th finger, 2-3 toe synda...	OMIM:618914
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Camptodactyly of finger, Ventriculomegaly, Flexion contracture of toe	OMIM:619323
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Postnatal growth retardation, High, narrow palate, Hypospadias, Aspiration, Renal dysplasia, Seve...	ORPHA:96182
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Simpson-Golabi-Behmel Syndrome, Type 2	Broad thumb, Ventriculomegaly, Postaxial hand polydactyly, Short finger	OMIM:300209
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Thin corpus callosum, Cerebral calcification, Corpus callosum atrophy, Microcephaly, Cerebral ede...	OMIM:620371
Developmental And Epileptic Encephalopathy 97	Ventriculomegaly	OMIM:619561
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Weiss-Kruszka Syndrome	Dysplastic corpus callosum, Decreased response to growth hormone stimulation test, Clinodactyly o...	ORPHA:502430
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Crossed Polysyndactyly	Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb	ORPHA:2935
Sudden Infant Death Syndrome	Apneic episodes in infancy	OMIM:272120
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Intellectual Developmental Disorder, X-Linked 111	Thin corpus callosum, Hippocampal atrophy, Reduced cerebral white matter volume, Corpus callosum ...	OMIM:301107
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Severe X-Linked Intellectual Disability, Gustavson Type	Rocker bottom foot, Triphalangeal thumb, Dandy-Walker malformation, Calcaneovalgus deformity, Con...	ORPHA:3078
Idiopathic Bronchiectasis	Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Dyspnea, Res...	ORPHA:60033
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Atelectasis, Recurrent lower respiratory tract infections, Inability to walk, As...	ORPHA:258
Adnp Syndrome	Abnormal temper tantrums, Advanced eruption of teeth, Urinary incontinence, Oral-pharyngeal dysph...	ORPHA:404448
Pallister-Hall-Like Syndrome	Short stature, Pulmonary hypoplasia, Anterior hypopituitarism, Death in infancy	OMIM:241800
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Polyuria, Megacystis, Short stature	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Polyuria, Megacystis, Short stature	OMIM:304800
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Aspiration, Death in infancy, Short stature, Dysphagia, Self-mutilation	OMIM:618922
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Genu valgum, Progressive microceph...	ORPHA:488627
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal basal ganglia morphology, Abnormal ...	ORPHA:255182
Microcephaly 27, Primary, Autosomal Dominant	Short finger, Hip subluxation, Clinodactyly of the 5th finger, Metatarsus adductus, Simplified gy...	OMIM:619180
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria	ORPHA:882
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pulmonary pneumatocele, Respiratory distress, Acute infectious pneumonia, Pleural e...	ORPHA:36238
Greig Cephalopolysyndactyly Syndrome	Hypoplasia of the corpus callosum, 1-3 toe syndactyly, Y-shaped metatarsals, Hydrocephalus, Posta...	OMIM:175700
Pontocerebellar Hypoplasia, Type 13	Hypoplasia of the corpus callosum, Dandy-Walker malformation, Single transverse palmar crease, Cl...	OMIM:618606
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Amyotrophic Lateral Sclerosis 28	Respiratory failure, Difficulty walking, Dysphagia	OMIM:620452
Ogden Syndrome	Enlarged kidney, Bifid nasal tip, Dysphagia, Intrauterine growth retardation, Narrow palate, Jaun...	OMIM:300855
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Microcephaly, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of ...	OMIM:600384
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Acute infectious pneumonia, Crazy paving pattern, Hypoxemia, Tachypnea	ORPHA:264675
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Developmental And Epileptic Encephalopathy 100	Aspiration, High palate, Protruding tongue, Gait ataxia, Broad nasal tip, Dysphagia, Motor stereo...	OMIM:619777
Liebenberg Syndrome	Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia...	OMIM:186550
Corpus Callosum, Partial Agenesis Of, X-Linked	Hypoplasia of the corpus callosum, Hydrocephalus, Dislocated radial head, Microcephaly, Ventricul...	OMIM:304100
Atelosteogenesis, Type Ii	Stillbirth, Pulmonary hypoplasia, Death in infancy	OMIM:256050
Mitochondrial Complex I Deficiency, Nuclear Type 33	Intrauterine growth retardation, Apnea, Aspiration pneumonia, Bronchiectasis	OMIM:618253
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Secondary microcephaly, Dysplastic corpus callosum, Reduced cerebral white matter volume, Hyperin...	OMIM:620317
Holoprosencephaly 5	Microcephaly, Hydrocephalus, Lateral ventricle dilatation	OMIM:609637
Adrenomyodystrophy	Hepatic steatosis, Megacystis, Abnormal intestine morphology, Abnormality of the urinary system	ORPHA:977
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Pulmonary hypoplasia	OMIM:616867
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin...	ORPHA:93405
Acute Lung Injury	Abnormal pulmonary interstitial morphology, Respiratory distress, Dyspnea, Hypoxemia, Pneumonia, ...	ORPHA:178320
Achondrogenesis Type 2	Short stature, Pulmonary hypoplasia	ORPHA:93296
Pontine Tegmental Cap Dysplasia	Aspiration, Ataxia, Dysphagia, Dysmetria	OMIM:614688
Craniosynostosis 6	Microcephaly, Agenesis of corpus callosum, Dandy-Walker malformation, Lateral ventricle dilatation	OMIM:616602
Chromosome 2Q35 Duplication Syndrome	2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands	OMIM:185900
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn...	OMIM:183600
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Mosaic Trisomy 1	Rocker bottom foot, Deviation of the 5th toe, Polymicrogyria, Broad 2nd toe, Elbow flexion contra...	ORPHA:1692
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure, Tremor, Ataxia, Dysphagia	OMIM:618637
Ectrodactyly-Polydactyly Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp...	ORPHA:1892
Yoon-Bellen Neurodevelopmental Syndrome	Cerebral atrophy, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Microcephaly, ...	OMIM:619701
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Ileal atresia, Anuria, Fetal megacystis, Rena...	OMIM:619351
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo...	OMIM:616726
Juvenile Neuronal Ceroid Lipofuscinosis	Aspiration pneumonia, Apnea, Episodic tachypnea	ORPHA:79264
Ciliary Dyskinesia, Primary, 21	Bronchiectasis, Recurrent pneumonia, Atelectasis	OMIM:615294
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Microcephaly, 2-4 toe syndactyly, Syndactyly	OMIM:241000
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:609054
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Pulmonary hypoplasia, Testicular atrophy	OMIM:601163
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology, Hypermobility of toe jo...	ORPHA:488635
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy	OMIM:611722
Nanophthalmos	Microphthalmia	ORPHA:35612
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Microcephaly, Radioulnar synostosis, Abnormali...	ORPHA:3268
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory insufficiency, Respiratory failure, Elevated circulating creatine kinase concentratio...	OMIM:613869
Orofaciodigital Syndrome Xv	Postaxial hand polydactyly, Duplication of phalanx of hallux, Broad hallux, Agenesis of corpus ca...	OMIM:617127
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve...	ORPHA:2185
Syndactyly, Type V	Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas...	OMIM:186300
Combined Oxidative Phosphorylation Defect Type 39	Cerebral atrophy, Hypoplasia of the corpus callosum, Deep white matter hypodensities, Abnormal co...	ORPHA:565624
Nanophthalmos 4	Microphthalmia	OMIM:615972
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Microcephaly-Cardiomyopathy Syndrome	Microcephaly, Ventriculomegaly, Clinodactyly of the 5th finger, Sandal gap	ORPHA:2515
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Hypoplasia of the corpus callosum, Thin corpus callosum, Single transverse palmar crease, Microce...	OMIM:614105
Congenital Myopathy 14	High palate, Death in infancy, Respiratory insufficiency due to muscle weakness, Respiratory fail...	OMIM:618414
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Corticospinal tract hypoplasia, Hydrocephalus, Thumb contracture, Agenesis o...	OMIM:307000
Joubert Syndrome 3	Frontal polymicrogyria, Thin corpus callosum, Enlarged fossa interpeduncularis, Lateral ventricle...	OMIM:608629
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Bronchiolitis, Loss of ambulation, Dysphagia, Pulmonary fibrosis	ORPHA:254361
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Bilateral Striopallidodentate Calcinosis	Microcephaly, Cerebral calcification, Ventriculomegaly	ORPHA:1980
Agnathia-Otocephaly Complex	Pulmonary hypoplasia, Respiratory distress	OMIM:202650
Microcephaly 17, Primary, Autosomal Recessive	Hypoplasia of the corpus callosum, Microlissencephaly, Simplified gyral pattern, Agenesis of corp...	OMIM:617090
Niemann-Pick Disease, Type C2	Jaundice, Death in childhood, Hepatomegaly, Respiratory insufficiency, Death in infancy, Prolonge...	OMIM:607625
Bullous Dystrophy, Hereditary Macular Type	Death in childhood, Severe short stature, Acrocyanosis	OMIM:302000
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Pulmonary hypoplasia, Respiratory distress	OMIM:617895
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Weaver Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Prominent fingertip pads, Flared humeral meta...	OMIM:277590
Peho-Like Syndrome	Hypoplasia of the corpus callosum, Progressive microcephaly, Polymicrogyria, Pachygyria, Lissence...	OMIM:617507
Alternating Hemiplegia Of Childhood	Anorexia, Oral-pharyngeal dysphagia, Aspiration, Impulsivity, Ataxia, Dysphagia, Choreoathetosis,...	ORPHA:2131
Pontocerebellar Hypoplasia, Type 1C	Respiratory insufficiency, Respiratory failure, Death in childhood	OMIM:616081
Autosomal Recessive Spastic Paraplegia Type 66	Hypoplasia of the corpus callosum, Colpocephaly, Talipes equinovarus	ORPHA:401815
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Hypoplasia of the corpus callosum, Normal pressure hydrocephalus, Genu valgum, Cubitus valgus, Ag...	ORPHA:300570
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Difficulty walking, Respiratory insufficiency, Ventilator dependence with inability to wean, Recu...	ORPHA:254875
Bilateral Generalized Polymicrogyria	Microcephaly, Diffuse white matter abnormalities, Lateral ventricle dilatation, Hypoplasia of the...	ORPHA:208447
Butyrylcholinesterase Deficiency	Apnea	OMIM:617936
Split-Hand/Foot Malformation 6	Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly	OMIM:225300
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Hepatic Veno-Occlusive Disease	Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Respiratory fail...	ORPHA:890
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl...	OMIM:610713
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Lethal Congenital Contracture Syndrome Type 1	Short stature, Pulmonary hypoplasia	ORPHA:1486
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Dyspnea, Pleural effusion, E...	OMIM:612387
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Thin corpus callosum, Clinodactyly of the 5th finger, Single transverse palmar crease, Reduced ce...	OMIM:620075
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Hypoplasia of the corpus callosum, Progressive microcephaly, Ventriculomegaly, Cerebral cortical ...	OMIM:617862
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:255320
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Aspiration, Agitation, Dysphagia	ORPHA:2148
Malan Overgrowth Syndrome	Hypoplasia of the corpus callosum, Ventriculomegaly, Lateral ventricle dilatation, Slender long bone	ORPHA:420179
Multiple Mitochondrial Dysfunctions Syndrome 5	Microcephaly, Ventriculomegaly, Pachygyria	OMIM:617613
Birt-Hogg-Dubé Syndrome	Pneumothorax, Emphysema, Pulmonary sequestration, Parathyroid adenoma, Medullary thyroid carcinoma	ORPHA:122
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Chronic bronchitis, Dyspnea, Panacinar emphysema	OMIM:613490
Bronchogenic Cyst	Bronchogenic cyst, Abnormal pulmonary thoracic imaging finding, Abnormal stomach morphology, Atel...	ORPHA:2357
Tonne-Kalscheuer Syndrome	Short stature, Pulmonary hypoplasia, Growth delay	OMIM:300978
Severe Neonatal-Onset Encephalopathy With Microcephaly	Growth delay, Apnea	ORPHA:209370
Thanatophoric Dysplasia	Intrauterine growth retardation, Pulmonary hypoplasia, Disproportionate short-limb short stature	ORPHA:2655
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs	ORPHA:1548
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Stillbirth, Neonatal death, Pulmonary hypoplasia	OMIM:236500
Familial Visceral Myopathy	Aganglionic megacolon, Hydroureter, Anteverted nares, Vesicoureteral reflux, Cleft palate, Promin...	ORPHA:2604
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory insufficiency, Elevated circulating creatine kinase concentration, Loss of ambulation...	ORPHA:370968
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Amyotrophic Lateral Sclerosis 21	Aspiration, Dysphagia	OMIM:606070
Nemaline Myopathy 8	Respiratory failure, Dysphagia, Death in infancy	OMIM:615348
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Hypoplasia of the corpus callosum, Reduced cerebral white matter volume, Cerebral hypoplasia, Mic...	OMIM:617977
Auriculocondylar Syndrome 4	Apnea	OMIM:620457
Serkal Syndrome	Growth delay, Abnormality of the adrenal glands, Pulmonary hypoplasia	ORPHA:139466
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hyperactivity, Tremor, Limb dystonia, Gait ataxia,...	ORPHA:363400
Congenital Myopathy 10B, Mild Variant	Difficulty walking, High palate, Elevated circulating creatine kinase concentration, Recurrent pn...	OMIM:620249
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Neonatal short-limb short stature, Stillbirth, Rhizomelia, Respiratory distress, Pulmonary hypopl...	OMIM:151210
Leukoencephalopathy, Cystic, Without Megalencephaly	Focal white matter lesions, Cerebral calcification, Microcephaly, Ventriculomegaly, Leukoencephal...	OMIM:612951
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	Hypoplasia of the corpus callosum, Polymicrogyria, Microcephaly, Dilated fourth ventricle, Latera...	OMIM:617751
Bilateral Perisylvian Polymicrogyria	Aspiration, Choanal atresia, Protruding tongue, Dysphagia, Intrauterine growth retardation, Dysme...	ORPHA:98889
Ciliary Dyskinesia, Primary, 29	Bronchiectasis, Recurrent respiratory infections, Atelectasis	OMIM:615872
Cach Syndrome	Globus pallidus hypointensity on susceptibility-weighted imaging, Cerebral atrophy, T2 hypointens...	ORPHA:135
Tetrasomy 5P	Postnatal growth retardation, Respiratory distress, Pulmonary hypoplasia, Recurrent respiratory i...	ORPHA:3309
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Portal hypertension, Microcolon, Intestinal malrotation, Hydronephrosis, Megacystis,...	OMIM:619431
48,Xxyy Syndrome	Recurrent respiratory infections, Apnea, Type II diabetes mellitus, Hypergonadotropic hypogonadism	ORPHA:10
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Multifocal cerebral white matter abnormalities, Lateral ventricle dilatation	OMIM:600721
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Myasthenic Syndrome, Congenital, 6, Presynaptic	Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist...	OMIM:254210
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased liver function, Inability to walk, Abnormal circulating enzyme concentration or activit...	ORPHA:70472
Catel-Manzke Syndrome	Clinodactyly of the 5th finger, Radial deviation of the 2nd finger, Camptodactyly of finger, Abno...	ORPHA:1388
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Lethal Osteosclerotic Bone Dysplasia	Respiratory failure, Gingival overgrowth, Median cleft palate, Gingival fibromatosis	ORPHA:1832
Combined Oxidative Phosphorylation Deficiency 51	Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia	OMIM:619057
Curry-Jones Syndrome	Finger syndactyly, Broad thumb, Foot polydactyly, Toe syndactyly, Abnormality of thumb phalanx, A...	ORPHA:1553
Hypophosphatasia, Infantile	Stillbirth, Disproportionate short-limb short stature, Death in infancy, Apnea, Recurrent respira...	OMIM:241500
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in childhood, Respiratory insufficiency, Elevated circulating alanine aminotransferase conc...	OMIM:245400
Brachydactyly Type B	Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy...	ORPHA:93383
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure, Loss of ambulation, Dysphagia, Tongue atrophy	OMIM:613435
15Q11Q13 Microduplication Syndrome	Finger syndactyly, Clinodactyly of the 5th finger	ORPHA:238446
Maternal Uniparental Disomy Of Chromosome 2	Postnatal growth retardation, Respiratory infections in early life, Decreased response to growth ...	ORPHA:96179
Santos Syndrome	Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly...	OMIM:613005
Congenital Disorder Of Glycosylation, Type Im	Aspiration, Increased circulating free fatty acid level, Death in infancy	OMIM:610768
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pulmonary hypoplasia, Neonatal death, Severe short stature, Disproportionate short-limb short sta...	OMIM:224410
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist...	OMIM:605809
3-Hydroxyisobutyric Aciduria	Cerebral calcification, Microcephaly, Cerebral cortical atrophy, Ventriculomegaly, Aplasia/Hypopl...	ORPHA:939
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Megalencephaly, Cavum septum pellucidum, Hydrocephalus, Polymicrogyria, Syndactyly, ...	OMIM:602501
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Apnea, Death in infancy	OMIM:616277
Atresia Of Urethra	Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux...	ORPHA:105
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Stillbirth, Hepatic steatosis, Death in childhood, Hepatomegaly, Renal ...	OMIM:614922
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
X-Linked Intellectual Disability, Wilson Type	Microcephaly, Lateral ventricle dilatation	ORPHA:85290
Oculopharyngodistal Myopathy 1	Difficulty walking, Aspiration, High palate, Ataxia, Dysphagia, Hypercapnia	OMIM:164310
Pontocerebellar Hypoplasia, Type 4	Respiratory failure, Dysphagia, Death in infancy	OMIM:225753
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Pontocerebellar Hypoplasia Type 4	Central apnea	ORPHA:166063
Myotubular Myopathy With Abnormal Genital Development	Atelectasis, Hypospadias, Glandular hypospadias, High palate, Death in infancy, Neonatal death, P...	OMIM:300219
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebral atrophy, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Dysplastic cor...	OMIM:616900
Bardet-Biedl Syndrome 5	Polydactyly, Syndactyly, Brachydactyly	OMIM:615983
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Intrauterine growth retardation, Apnea	OMIM:619048
Ravine Syndrome	Apnea	ORPHA:99852
Microcephaly-Microcornea Syndrome, Seemanova Type	Growth delay, Microphthalmia, Short stature	ORPHA:2528
1Q41Q42 Microdeletion Syndrome	Short stature, Hypergonadotropic hypogonadism, Pulmonary hypoplasia, Growth delay	ORPHA:250999
Aicardi Syndrome	Proximal placement of thumb, Cavum septum pellucidum, Polymicrogyria, Dandy-Walker malformation, ...	OMIM:304050
Congenital Tracheomalacia	Pneumothorax, Cyanosis, Emphysema, Intercostal retractions, Dyspnea, Bronchiectasis, Apnea, Pulmo...	ORPHA:95430
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Orofaciodigital Syndrome Type 14	Hypoplasia of the corpus callosum, Deviation of the hallux, Dandy-Walker malformation, Open operc...	ORPHA:434179
Myasthenic Syndrome, Congenital, 16	Apnea	OMIM:614198
Heart-Hand Syndrome, Slovenian Type	Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Aspiration, High palate, Growth delay, Intrauterine growth retardation, Erythema	OMIM:614653
Surfactant Metabolism Dysfunction, Pulmonary, 4	Tachypnea, Intraalveolar phospholipid accumulation	OMIM:300770
Multiple Acyl-Coa Dehydrogenase Deficiency	Neonatal death, Pulmonary hypoplasia, Respiratory distress	OMIM:231680
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pul...	OMIM:611812
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory failure requiring assisted ventilation, Hepatomegaly, Abnormal circulating enzyme con...	ORPHA:308552
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Hypoventilation, Respiratory distress, Aspiration pneumonia, Recurrent pneumonia, Apnea	ORPHA:314655
Neurodegeneration And Seizures Due To Copper Transport Defect	Pneumothorax, Pulmonary hypoplasia, Respiratory distress	OMIM:620306
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibro...	OMIM:616217
Hermansky-Pudlak Syndrome 10	Abnormal pulmonary interstitial morphology, Apnea, Recurrent respiratory infections	OMIM:617050
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Intestinal malrotation, Intrauterine growth retardation, Aggressive b...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Intestinal malrotation, Intrauterine growth retardation, Aggressive b...	ORPHA:353277
Brachydactyly Type B2	Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang...	ORPHA:140908
Autosomal Recessive Primary Microcephaly	Hypoplasia of the frontal lobes, Microcephaly, Agenesis of corpus callosum, Pachygyria, Ventricul...	ORPHA:2512
Developmental And Epileptic Encephalopathy 61	Apnea	OMIM:617933
Lissencephaly 6 With Microcephaly	Hypoplasia of the corpus callosum, Polymicrogyria, Microlissencephaly, Single transverse palmar c...	OMIM:616212
2Q24 Microdeletion Syndrome	Growth delay, Central apnea	ORPHA:1617
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Benign Familial Infantile Epilepsy	Apnea, Cyanosis	ORPHA:306
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Congenital Disorder Of Glycosylation, Type Iig	Cerebral atrophy, Rhizomelia, Progressive microcephaly, Single transverse palmar crease, Short lo...	OMIM:611209
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:3035
Laryngotracheal Angioma	Apnea, Cyanosis, Intercostal retractions, Respiratory distress	ORPHA:137935
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Reduced cereb...	OMIM:620156
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Diaphanospondylodysostosis	Intrauterine growth retardation, Pulmonary hypoplasia, Disproportionate short-trunk short stature...	OMIM:608022
Giant Axonal Neuropathy 1, Autosomal Recessive	Talipes equinovarus, Abnormal pyramidal tract morphology, Lateral ventricle dilatation	OMIM:256850
Multiple Pterygium Syndrome, X-Linked	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:312150
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Anal stenosis, Hydroureter, Duplicated collecting system, Ectodermal dys...	OMIM:604292
Chromosome 6Q24-Q25 Deletion Syndrome	Sandal gap, Hydrocephalus, Prominent fingertip pads, Probst bundles, Agenesis of corpus callosum,...	OMIM:612863
Intellectual Developmental Disorder, Autosomal Dominant 56	Secondary microcephaly, Thin corpus callosum, Lateral ventricle dilatation	OMIM:617854
Visceral Myopathy 1	Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Intestinal pseudo-obstruc...	OMIM:155310
Mitochondrial Complex I Deficiency, Nuclear Type 13	Apnea, Death in infancy	OMIM:618235
Lymphatic Malformation 11	Lymphedema, Pedal edema	OMIM:619401
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract	Apneic episodes in infancy	ORPHA:500545
C1Q Deficiency 2	Facial erythema, Atelectasis, Recurrent lower respiratory tract infections, Vasculitis in the ski...	OMIM:620321
Thanatophoric Dysplasia, Type I	Lethal short-limbed short stature, Neonatal death, Pulmonary hypoplasia, Disproportionate short-l...	OMIM:187600
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Pulmonary hypoplasia, Neonatal death, Intrauterine growth retardation	OMIM:608013
Developmental And Epileptic Encephalopathy 38	Aspiration, Ataxia	OMIM:617020
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal lung lobation, Pulmonary hypoplasia	OMIM:263210
Mitochondrial Complex I Deficiency, Nuclear Type 4	Apnea, Death in childhood	OMIM:618225
Intermediate Nemaline Myopathy	High, narrow palate, Difficulty walking, Dysphagia, Long philtrum, Respiratory failure	ORPHA:171433
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Autosomal Recessive Spastic Paraplegia Type 53	Microcephaly, Cortical dysplasia, Ventriculomegaly, Upper limb hypertonia	ORPHA:319199
Brain Small Vessel Disease 2	Polymicrogyria, Ventriculomegaly, Schizencephaly, Porencephalic cyst	OMIM:614483
Idiopathic Chronic Eosinophilic Pneumonia	Hypersensitivity pneumonitis, Atelectasis, Pleural effusion, Dyspnea, Hypoxemia	ORPHA:2902
17P13.3 Microduplication Syndrome	Hypoplasia of the corpus callosum, Ventriculomegaly, Clinodactyly of the 5th finger, Congenital h...	ORPHA:217385
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Aspiration, Unsteady gait, Multiple renal cysts	OMIM:618733
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos...	ORPHA:217563
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
Alg3-Cdg	Pulmonary hypoplasia, Abnormality of the endocrine system	ORPHA:79321
Mitochondrial Complex I Deficiency, Nuclear Type 14	Apnea	OMIM:618236
Ceroid Lipofuscinosis, Neuronal, 10	Apnea, Neonatal death	OMIM:610127
Arthrogryposis Multiplex Congenita 6	Akinesia, Death in childhood, Hypospadias, Death in infancy, Neonatal death, Respiratory failure	OMIM:619334
Fetal Akinesia Deformation Sequence	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:994
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Periventricular leukomalacia, Deep palmar crease, Choroid plexus cyst, Abnormal caudate nucleus m...	ORPHA:293725
Tracheobronchopathia Osteochondroplastica	Exertional dyspnea, Atelectasis, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent respirator...	ORPHA:3348
Pericardial And Diaphragmatic Defect	Hypoxemia, Pulmonary sequestration, Pulmonary hypoplasia	ORPHA:2847
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Episodic ataxia, Dystonia, Long philtrum, Respiratory failure, Choreoathetosis, Lethargy	OMIM:312170
Pseudo-Torch Syndrome 2	Cerebral calcification, Polymicrogyria, Microcephaly, Lateral ventricle dilatation, Ventriculomegaly	OMIM:617397
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis, Central apnea	ORPHA:71277
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis	OMIM:601612
Thanatophoric Dysplasia, Type Ii	Temporal lobe dysplasia, Short greater sciatic notch, Flared metaphysis, Hypoplastic ilia, Microm...	OMIM:187601
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	1-4 finger syndactyly, Split hand, Camptodactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, 2-3 ...	OMIM:225280
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Microcephaly, Dysplastic corpus callosum	OMIM:618276
Distal Deletion 10Q	2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Short metatarsal, Sandal gap, Cavum...	ORPHA:96148
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho...	ORPHA:2378
Matthew-Wood Syndrome	Intrauterine growth retardation, Abnormal lung morphology, Pulmonary hypoplasia	ORPHA:2470
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Brachydactyly, Lateral ventricle dilatation	OMIM:619995
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger	OMIM:313350
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Ventriculomegaly, Primary microcephaly, Arachnodactyly	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	Respiratory failure requiring assisted ventilation, Acute infectious pneumonia, Respiratory insuf...	ORPHA:723
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Apnea	OMIM:617290
Developmental And Epileptic Encephalopathy 71	Respiratory insufficiency, Respiratory failure	OMIM:618328
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification	ORPHA:73256
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs	ORPHA:3346
Cog5-Cdg	Genu valgum, Cerebral white matter atrophy, Microcephaly, Camptodactyly of finger, Diffuse cerebr...	ORPHA:263487
Genitopatellar Syndrome	Short stature, Apnea, Pulmonary hypoplasia	ORPHA:85201
Ciliary Dyskinesia, Primary, 5	Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis, Recurrent pneu...	OMIM:608647
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, D...	OMIM:608836
Bare Lymphocyte Syndrome, Type I	Emphysema, Recurrent bronchitis, Bronchiolitis, Nasal polyposis, Bronchiectasis	OMIM:604571
Joubert Syndrome 23	Tachypnea, Apnea	OMIM:616490
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Proteinuria, Splenomegaly	OMIM:620010
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy	ORPHA:85447
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Cardiomegaly	OMIM:269920
Auriculocondylar Syndrome 2A	Apnea, Respiratory distress	OMIM:614669
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Stillbirth, Pulmonary hypoplasia	OMIM:615415
Congenital Neuronal Ceroid Lipofuscinosis	Abnormal circulating enzyme concentration or activity, Elevated circulating creatine kinase conce...	ORPHA:168486
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimulation test, Focal pancr...	ORPHA:79644
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Cerebral atrophy, Ventriculomegaly, Microcephaly	OMIM:617051
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Nephropathy	OMIM:105200
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Intrauterine growth retardation, Pulmonary hypoplasia, Pleural effusion	OMIM:616897
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Short stature, Emphysema	OMIM:210050
Achondroplasia	Neonatal short-limb short stature, Rhizomelia, Respiratory distress, Death in infancy, Pulmonary ...	OMIM:100800
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebral atrophy, Dilated third ventricle, Abnormal cerebral white matter morphology	ORPHA:314404
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Triangular shaped distal phalanx of t...	ORPHA:370010
Scimitar Syndrome	Pneumothorax, Bronchogenic cyst, Respiratory distress, Pulmonary sequestration, Pulmonary artery ...	ORPHA:185
Acropectorovertebral Dysplasia	Finger syndactyly, Synostosis of carpal bones, Broad thumb, Radial deviation of the 2nd finger, B...	OMIM:102510
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Pulmonary hypoplasia, Recurrent respiratory infections, Pulmonary artery atresia	OMIM:618316
Platyspondylic Dysplasia, Torrance Type	Pulmonary hypoplasia, Disproportionate short-limb short stature	ORPHA:85166
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	ORPHA:2019
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Thrombocytopenia, Cardiomegaly	ORPHA:858
Waardenburg Syndrome Type 3	Acrocyanosis, Atelectasis, Narrow nasal bridge	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
Cleft Velum	Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia, Oral-pharyngeal dysphagia	ORPHA:99772
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hypoplasia of the corpus callosum, Hydrocephalus, Ulnar deviation of the wrist, Agenesis of corpu...	OMIM:618577
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia, Frontal encephalocele	OMIM:218670
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Death in childhood, Recurrent lower respiratory tract infections, Respiratory distress, Death in ...	OMIM:618426
Avian Influenza	Pneumothorax, Acute kidney injury, Elevated circulating hepatic transaminase concentration, Misca...	ORPHA:454836
Myoclonus, Intractable, Neonatal	Apnea	OMIM:617235
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Impulsivity, Dysphagia, Bruxism, Tip-toe gait, Broad-based gait, Aspiration, Pelvic kidney, Esoph...	OMIM:619503
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Brachydactyly, Type B2	Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o...	OMIM:611377
Primary Ciliary Dyskinesia	Atelectasis, Pulmonary situs ambiguus, Hydrocephalus, Nasal congestion, Nasal polyposis, Chronic ...	ORPHA:244
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Short stature, Central apnea	OMIM:615031
Microphthalmia, Syndromic 9	Bilateral lung agenesis, Pulmonary artery atresia, Short stature, Agenesis of pulmonary vessels, ...	OMIM:601186
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex...	OMIM:256550
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Respiratory insufficienc...	OMIM:602088
Spastic Paraplegia 47, Autosomal Recessive	Hypoplasia of the corpus callosum, Abnormal periventricular white matter morphology, Microcephaly...	OMIM:614066
Proximal Symphalangism	Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ...	ORPHA:3250
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly	OMIM:614480
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Macrocephaly, Benign Familial	Ventriculomegaly	OMIM:153470
Congenital Myopathy 21 With Early Respiratory Failure	Respiratory failure, Lipoid pneumonia, Elevated circulating creatine kinase concentration	OMIM:620326
Combined Oxidative Phosphorylation Deficiency 57	Central diabetes insipidus, Diabetes insipidus, Nephrogenic diabetes insipidus, Death in infancy,...	OMIM:620167
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Narrow palate, Steppage gait, Tremor, Gait ataxia, Intention tremor, Ataxia, Tented upper lip ver...	OMIM:616505
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Acrofacial Dysostosis, Cincinnati Type	Aqueductal stenosis, Short nose, Bilateral choanal atresia, Pulmonary artery aneurysm, Hydrocepha...	OMIM:616462
Renal Hypodysplasia/Aplasia 1	Pulmonary hypoplasia	OMIM:191830
Biemond Syndrome Type 2	Delayed puberty, Microphthalmia, Short stature	ORPHA:141333
Developmental And Epileptic Encephalopathy 59	Ventriculomegaly	OMIM:617904
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:86822
Mitochondrial Complex I Deficiency, Nuclear Type 5	Growth delay, Apnea	OMIM:618226
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Hypoplasia of the corpus callosum, Small pituitary gland, Bowed humerus, Short long bone, Short h...	OMIM:619479
Spinocerebellar Ataxia Type 1	Bradykinesia, Progressive cerebellar ataxia, Gait imbalance, Dysdiadochokinesis, Gait disturbance...	ORPHA:98755
3-Methylglutaconic Aciduria Type 7	Pneumothorax, 3-Methylglutaconic aciduria, Hepatic steatosis, Elevated circulating hepatic transa...	ORPHA:445038
Neuralgic Amyotrophy	Short stature, Bifid uvula, Cleft palate, Acrocyanosis	ORPHA:2901
Tay-Sachs Disease	Aspiration	OMIM:272800
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca...	ORPHA:615
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Tip-toe gait, Difficulty walking, Elevated circulating creatine kinase concentration, Dysphagia, ...	OMIM:606612
Hyperekplexia 4	Respiratory failure, High palate	OMIM:618011
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Emphysema	ORPHA:1164
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Multiple Mitochondrial Dysfunctions Syndrome 1	Respiratory insufficiency, Hyperglycinuria, Alpha-aminoadipic aciduria, Death in infancy, Neonata...	OMIM:605711
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebral cortical atrophy, Ventriculomegaly, Diffuse cerebral atrophy	OMIM:615362
5Q14.3 Microdeletion Syndrome	Hypoplasia of the corpus callosum, Frontal cortical atrophy, Ventriculomegaly, Toe syndactyly	ORPHA:228384
Developmental And Epileptic Encephalopathy 99	Frontotemporal cerebral atrophy, Thin corpus callosum, Microcephaly, Perisylvian polymicrogyria, ...	OMIM:619606
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Tenorio Syndrome	Recurrent pneumonia, Apnea, Hypoinsulinemia	OMIM:616260
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Microcephaly, Syndactyly, Pa...	OMIM:619091
Neuropathy, Congenital Hypomyelinating, 3	Narrow palate, Respiratory insufficiency, Gingival overgrowth, High palate, Dystonia, Neonatal de...	OMIM:618186
Microcephaly-Micromelia Syndrome	Intrauterine growth retardation, Neonatal death, Pulmonary hypoplasia	OMIM:251230
Joubert Syndrome 30	Polymicrogyria, Dandy-Walker malformation, Postaxial hand polydactyly, Agenesis of corpus callosu...	OMIM:617622
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure	OMIM:600561
Hyperekplexia 1	Aspiration	OMIM:149400
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Decreased methionine synthase activity, Jaundice, Homocystinuria, Gait disturbance, Respiratory f...	OMIM:250940
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Hydroureter, Death in infancy, Intestinal malrotation, Microcolon, Megacystis, Multicystic kidney...	ORPHA:2241
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Decreased liver function, Death in childhood, Hepatomegaly, Truncal ataxia, High palate, Increase...	OMIM:220110
Benign Familial Neonatal-Infantile Seizures	Apnea	ORPHA:140927
Tetraploidy	Intrauterine growth retardation, Aplasia/Hypoplasia of the thymus, Aplasia/Hypoplasia of the lungs	ORPHA:3305
Ullrich Congenital Muscular Dystrophy	Elevated circulating creatine kinase concentration, Respiratory failure, Abnormal palate morpholo...	ORPHA:75840
Trisomy 5P	Ventriculomegaly, Abnormal metacarpal morphology	ORPHA:1742
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Splenomegaly, Hepatic fibrosis	OMIM:613313
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Frontal cortical atrophy, Ventriculomegaly	OMIM:300699
Folinic Acid-Responsive Seizures	Apnea, Respiratory distress	ORPHA:79097
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Pulmonary hypoplasia	OMIM:314390
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Intrauterine growth retardation, Microphthalmia, Short stature	OMIM:616171
Mitochondrial Complex I Deficiency, Nuclear Type 6	Apnea	OMIM:618228
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Intrauterine growth retardation, Aplasia/Hypoplasia of the lungs, Abnormal pleura morphology	ORPHA:2570
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Aplasia/Hypoplasia of the lungs	ORPHA:1046
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly	OMIM:617967
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Glutaric aciduria, Hepatomegaly, Elevated circulating hepatic transamin...	ORPHA:26791
Hypoadrenocorticism, Familial	Adrenal hypoplasia, Apnea, Cyanosis, Adrenal insufficiency	OMIM:240200
Boomerang Dysplasia	Decreased response to growth hormone stimulation test, Aplasia/Hypoplasia of the lungs, Severe sh...	ORPHA:1263
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Microcephaly, Shor...	OMIM:210710
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Microcephaly, Ventriculomegaly, Camptodactyly of finger, Hypoplasia of the corpus callosum	ORPHA:1495
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Cerebral cortical atrophy, Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies	OMIM:607485
Chiari Malformation Type Ii	Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Ataxia, Dysphagia, Cyanosis	OMIM:207950
Developmental And Epileptic Encephalopathy 70	Microcephaly, Ventriculomegaly, Cerebral cortical atrophy	OMIM:618298
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri...	OMIM:616589
Lissencephaly 8	Hypoplasia of the corpus callosum, Polymicrogyria, Type II lissencephaly, Agyria, Microcephaly, V...	OMIM:617255
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Elevated circulating creatine kinase concentration, Respiratory failure, Difficulty walking, Dysp...	OMIM:613954
Immunodeficiency 54	Hepatomegaly, Respiratory insufficiency, Splenomegaly, Respiratory failure, Recurrent respiratory...	OMIM:609981
Developmental And Epileptic Encephalopathy 54	Ventriculomegaly	OMIM:617391
Pontocerebellar Hypoplasia Type 2	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Bilateral single transverse palmar...	ORPHA:2524
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Apnea	OMIM:619797
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebral atrophy, Cerebral white matter hypoplasia, Abnormal periventricular white matter morphol...	ORPHA:572798
Marden-Walker Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia, Postnatal growth retardation	OMIM:248700
Joubert Syndrome 31	Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:617761
Craniosynostosis, Herrmann-Opitz Type	Intrauterine growth retardation, Aplasia/Hypoplasia of the lungs, Short stature	ORPHA:2145
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, Clinodactyly of the 5th toe, Dysplastic corpus callosum, Clinodactyly of th...	OMIM:618010
Fanconi Anemia, Complementation Group W	Hypoplasia of the radius, Decreased response to growth hormone stimulation test, Abnormal radial ...	OMIM:617784
Mogs-Cdg	Hypoventilation, Pulmonary edema, Respiratory distress, Inappropriate antidiuretic hormone secret...	ORPHA:79330
Joubert Syndrome 9	Apnea, Episodic tachypnea	OMIM:612285
Truncus Arteriosus	Abnormal lung lobation, Pulmonary edema, Adrenocortical abnormality, Pulmonary artery atresia, Hy...	ORPHA:3384
Gm2-Gangliosidosis, Ab Variant	Aspiration	OMIM:272750
Severe Congenital Nemaline Myopathy	Pulmonary hypoplasia	ORPHA:171430
Cat-Eye Syndrome	Short stature, Microphthalmia, Intrauterine growth retardation	ORPHA:195
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Reticular pattern on pulmonary HRCT, Respiratory failure, Hepatosplenomegaly, Pulmo...	ORPHA:99931
Alg1-Cdg	Decreased liver function, Abnormality of the kidney, Protein-losing enteropathy, Nephrotic syndro...	ORPHA:79327
Pyruvate Dehydrogenase E1-Beta Deficiency	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Corticospinal tract hypoplasia, ...	ORPHA:255138
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Abnormal metacarpal morphology, Short hallux, Finger syndactyly, Abnormal corpus callosum morphol...	ORPHA:3224
Xk Aprosencephaly Syndrome	Microphthalmia, Polyhydramnios	ORPHA:3469
Cryptogenic Organizing Pneumonia	Anorexia, Ground-glass opacification, Pneumothorax, Parenchymal consolidation, Hypoxemia, Cyanosis	ORPHA:1302
Achondrogenesis	Severe short stature, Aplasia/Hypoplasia of the lungs	ORPHA:932
Dworschak-Punetha Neurodevelopmental Syndrome	Microcephaly, Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum	OMIM:619955
Gaucher Disease, Type Ii	Apnea, Recurrent aspiration pneumonia, Bronchiolitis, Death in infancy	OMIM:230900
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Microphthalmia, Isolated 5	Cystoid macular edema, Microphthalmia	OMIM:611040
Septooptic Dysplasia	Polydactyly, Short finger, Decreased response to growth hormone stimulation test, Anterior pituit...	OMIM:182230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Ventriculomegaly	OMIM:613151
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Frontal cortical atrophy, Caudate atrophy, Ventriculomegaly, Temporal cortical atrophy	ORPHA:137831
Cornelia De Lange Syndrome 2	Limited elbow movement, Proximal placement of thumb, Short foot, Microcephaly, Brachydactyly, Ven...	OMIM:300590
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Microcephaly, Cerebral atrophy, Primary microcephaly, Lateral ventricle dilatation	OMIM:619847
Congenital Disorder Of Glycosylation, Type Iih	Clinodactyly of the 3rd toe, Bilateral coxa valga, Clinodactyly of the 4th toe, Microcephaly, Ven...	OMIM:611182
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Tubulinopathy-Associated Dysgyria	Dysgyria, Abnormality of the internal capsule, Abnormal corpus callosum morphology, Agyria, Abnor...	ORPHA:467166
Achondrogenesis Type 1B	Disproportionate short stature, Severe short stature, Aplasia/Hypoplasia of the lungs	ORPHA:93298
Orofaciodigital Syndrome Xvii	Polydactyly, Clubbing of fingers, Central Y-shaped metacarpal, Partial duplication of thumb phala...	OMIM:617926
Nemaline Myopathy 2	Apnea	OMIM:256030
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Agyria, Abnormal cerebral white ...	OMIM:613153
Craniotelencephalic Dysplasia	Frontal encephalocele, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Histidinuria-Renal Tubular Defect Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Short middle phalanx of finger, Rounded middle phala...	ORPHA:2158
Short-Rib Thoracic Dysplasia 12	Atelectasis, Anencephaly, Hydrocephalus, Median cleft palate, Intestinal malrotation, Renal hypop...	OMIM:269860
Joubert Syndrome 33	Apnea	OMIM:617767
Leukodystrophy, Hypomyelinating, 24	Cerebral atrophy, Ventriculomegaly, Thin corpus callosum, Microcephaly	OMIM:619851
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Cavum septum pellucidum, Abnormal corpus callosum morphology, Congenital hip dislocation, Contrac...	ORPHA:457279
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating hepatic transaminase concentration, Respiratory insufficiency, Myoglobinuria...	OMIM:609015
Houge-Janssens Syndrome 2	Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Postaxial polydactyly, Broad hall...	OMIM:616362
Teebi Hypertelorism Syndrome 1	Short stature, Pulmonary hypoplasia	OMIM:145420
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Jeune Syndrome	Short stature, Aplasia/Hypoplasia of the lungs	ORPHA:474
Cofs Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:1466
Hemimegalencephaly	Focal cortical dysplasia, Polymicrogyria, Hemimegalencephaly, Pachygyria, Hyperintensity of cereb...	ORPHA:99802
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, 2-4 toe cutaneous syndactyly, Hypoplasia of the corpus callosum, Shor...	OMIM:618569
6Q25 Microdeletion Syndrome	Rocker bottom foot, Clinodactyly of the 5th finger, Microcephaly, Camptodactyly of finger, Agenes...	ORPHA:251056
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Ventriculomegaly	OMIM:206570
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Autosomal Recessive Amelia	Aplasia/Hypoplasia of the lungs	ORPHA:1027
Hsd10 Disease, Infantile Type	Loss of ambulation, Dysphagia, Restlessness, Choreoathetosis, Cyanosis, Abnormal concentration of...	ORPHA:391428
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
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia	OMIM:274270
Microcephalic Primordial Dwarfism, Toriello Type	Microcephaly, Ventriculomegaly, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Mmep Syndrome	Microphthalmia	ORPHA:3434
Autosomal Recessive Spastic Paraplegia Type 11	Hypoplasia of the corpus callosum, Focal T2 hyperintense basal ganglia lesion, Frontal cortical a...	ORPHA:2822
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Thin corpus callosum, Clinodactyly of the 5th finger, Single transverse palmar crease, Reduced ce...	OMIM:617807
Idiopathic Pulmonary Fibrosis	Ground-glass opacification, Abnormal pulmonary interstitial morphology, Orthodeoxia, Reticular pa...	ORPHA:2032
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Elevated circulating creatine kinase concentration, Nephrolithiasis, Respiratory insufficiency du...	ORPHA:352447
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	3-Methylglutaconic aciduria, Abnormality of the kidney, Hepatomegaly, Hypospadias, Short philtrum...	ORPHA:1194
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Noonan Syndrome 14	Limited elbow extension, Deep palmar crease, Cubitus valgus, Scapular winging, Lateral ventricle ...	OMIM:619745
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Death in childhood, Gait disturbance, Loss of ambulation, Ataxia, Respiratory failure, Abnormal c...	OMIM:615838
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pulmonary hypoplasia, Miscarriage, Severe short stature	ORPHA:1865
Ataxia-Deafness-Intellectual Disability Syndrome	Cerebral cortical atrophy, Ventriculomegaly	ORPHA:1188
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia	OMIM:614082
Cutis Laxa, Autosomal Recessive, Type Ic	Rectal prolapse, Death in childhood, Atelectasis, Emphysema, Multiple bladder diverticula, Death ...	OMIM:613177
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Short stature, Microphthalmia	OMIM:610023
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Microcephaly, Ventriculomegaly, Decreased response to growth hormone stimulation test, Agenesis o...	OMIM:615286
Neurocardiofaciodigital Syndrome	Hypoplasia of the corpus callosum, Polydactyly, Cavum septum pellucidum, Microcephaly, Dilated fo...	OMIM:619869
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Hypoplasia of the corpus callosum, Ventriculomegaly	ORPHA:521390
Bilateral Frontoparietal Polymicrogyria	Microcephaly, Cortical dysplasia, Ventriculomegaly, Cerebral dysmyelination	ORPHA:101070
Microphthalmia, Syndromic 13	Short stature, Microphthalmia	OMIM:300915
Acro-Renal-Mandibular Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia, Abnormal lung lobation	ORPHA:958
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Den Hoed-De Boer-Voisin Syndrome	Secondary microcephaly, Sandal gap, 2-3 toe syndactyly, Microcephaly, Lateral ventricle dilatatio...	OMIM:619229
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th finger	ORPHA:376
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory insufficiency, Respiratory failure, Beta-aminoisobutyric aciduria, High palate	OMIM:615330
Tarp Syndrome	Intrauterine growth retardation, Apnea, Pulmonary hypoplasia, Cyanosis	ORPHA:2886
Late-Onset Familial Hypoaldosteronism	Postnatal growth retardation, Elevated serum 11-deoxycortisol, Abnormal circulating corticosteron...	ORPHA:556037
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating corticosterone level, Growth delay, Increased circulating 18-hydroxycortiso...	OMIM:610600
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Pfeiffer Syndrome Type 1	Aqueductal stenosis, Aplasia/Hypoplasia of the thumb, Short hallux, Finger syndactyly, Broad thum...	ORPHA:93258
Weiss-Kruszka Syndrome	Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Proximal placement of thumb, S...	OMIM:618619
Lethal Congenital Contracture Syndrome 10	Intrauterine growth retardation, Pulmonary hypoplasia, Hypoplasia of the thymus	OMIM:617022
Infantile Neuroaxonal Dystrophy	Apneic episodes in infancy, Aspiration pneumonia	ORPHA:35069
Meacham Syndrome	Stillbirth, Death in childhood, Cardiac total anomalous pulmonary venous connection, Scimitar ano...	OMIM:608978
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Cerebral atrophy, Hypoplasia of the corpus callosum, Progressive microcephaly, Microcephaly, Simp...	OMIM:615760
Central Hypoventilation Syndrome, Congenital, 3	Apnea, Central hypoventilation	OMIM:619483
Scedosporiosis	Abnormal jejunum morphology, Pleuritis, Bronchitis, Abnormal renal morphology, Pleural empyema, P...	ORPHA:449280
Early-Onset Familial Hypoaldosteronism	Postnatal growth retardation, Elevated serum 11-deoxycortisol, Abnormal circulating corticosteron...	ORPHA:556030
Metatropic Dysplasia	Severe short stature, Aplasia/Hypoplasia of the lungs	ORPHA:2635
Ciliary Dyskinesia, Primary, 1	Atelectasis, Recurrent bronchitis, Anosmia, Nasal polyposis, Chronic rhinitis, Communicating hydr...	OMIM:244400
Leukodystrophy, Hypomyelinating, 4	Apnea	OMIM:612233
Leigh Syndrome	Respiratory insufficiency, Hepatocellular necrosis, Dystonia, Ataxia, Respiratory failure	OMIM:256000
Mitochondrial Complex I Deficiency, Nuclear Type 18	Respiratory failure, Hydronephrosis, Hydroureter, Death in infancy	OMIM:618240
Absence Of The Pulmonary Artery	Pulmonary edema, Dyspnea, Growth delay, Orthopnea, Recurrent pneumonia, Pulmonary hypoplasia, Bro...	ORPHA:980
Mitochondrial Complex I Deficiency, Nuclear Type 31	Ventriculomegaly	OMIM:618251
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Ventriculomegaly, Thick corpus callosum, Simplified gyral pattern	OMIM:618273
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Generalized abnormality of skin, Atelectasis, Delayed eruption of teeth, Cleft palate, Recurrent ...	ORPHA:2314
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Pulmonary Alveolar Proteinosis, Acquired	Lung abscess, Intraalveolar phospholipid accumulation, Dyspnea, Hypoxemia, Pneumonia, Recurrent r...	OMIM:610910
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Inability to walk, Tongue thrusting, Recurrent hand flapping, Impulsivity, Protruding tongue, Gai...	OMIM:619580
Pulmonary Alveolar Microlithiasis	Pneumothorax, Exertional dyspnea, Pleural thickening, Bronchitis, Dyspnea, Hypoxemia, Interlobula...	ORPHA:60025
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:324416
Mesomelic Dysplasia, Nievergelt Type	Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm...	ORPHA:2633
Atypical Rett Syndrome	Growth delay, Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration	ORPHA:3095
Myasthenic Syndrome, Congenital, 24, Presynaptic	Apnea	OMIM:618198
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Apnea, Death in infancy	OMIM:614498
Hypophosphatasia	Short stature, Emphysema	ORPHA:436
Spondylometaphyseal Dysplasia, X-Linked	Respiratory insufficiency, Respiratory failure	OMIM:313420
Li-Ghorbani-Weisz-Hubshman Syndrome	Hypoplasia of the corpus callosum, Ventriculomegaly, Overlapping toe, Clinodactyly of the 5th finger	OMIM:618974
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Pierpont Syndrome	Short finger, Abnormal cortical gyration, Deep palmar crease, Prominent fingertip pads, Excessive...	ORPHA:487825
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of left pulmonary artery from ascending aorta, Exertional dyspnea, Anomalous ori...	ORPHA:99050
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Adducted thumb, Absent septum pe...	ORPHA:2182
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Respiratory insufficiency, Death in infancy, Ataxia, Respiratory failure, Lethargy	OMIM:614299
Chromosome 1Q41-Q42 Deletion Syndrome	Short stature, Pulmonary hypoplasia	OMIM:612530
Achondrogenesis Type 1A	Severe short stature, Aplasia/Hypoplasia of the lungs	ORPHA:93299
Terminal Osseous Dysplasia	Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Camptodactyly of...	OMIM:300244
Caudal Regression Syndrome	Maternal diabetes, Pulmonary hypoplasia	ORPHA:3027
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Atelosteogenesis Type I	Pulmonary hypoplasia, Neonatal short-trunk short stature, Rhizomelia	ORPHA:1190
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Widely spaced teeth, Urinary incontinence, Ne...	ORPHA:496641
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Frontal cortical atrophy, Ventriculomegaly, Scapular winging	ORPHA:206559
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
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Bilateral clef...	OMIM:301068
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ...	ORPHA:79301
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Carpenter Syndrome	Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,...	ORPHA:65759
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Apnea, Central hypoventilation	OMIM:300673
Presynaptic Congenital Myasthenic Syndromes	Recurrent respiratory infections, Sudden episodic apnea, Apneic episodes precipitated by illness,...	ORPHA:98914
Congenital Myasthenic Syndrome	Recurrent respiratory infections, Sudden episodic apnea, Apneic episodes precipitated by illness,...	ORPHA:590
Developmental And Epileptic Encephalopathy 9	Ventriculomegaly	OMIM:300088
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Interstitial pneumonitis, Splenomegaly, Recurrent upper respiratory tract infection...	OMIM:620296
Congenital Myopathy 11	Apneic episodes in infancy	OMIM:619967
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Stuve-Wiedemann Syndrome 1	Death in infancy, Short stature, Apnea, Pulmonary hypoplasia, Intrauterine growth retardation, Pu...	OMIM:601559
Pontocerebellar Hypoplasia, Type 16	Apnea	OMIM:619527
2,4-Dienoyl-Coa Reductase Deficiency	Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Colpocephaly, V...	OMIM:616034
Joubert Syndrome 21	Pulmonary hypoplasia, Apnea, Dyspnea	OMIM:615636
Rahman Syndrome	Talipes equinovarus, Ventriculomegaly, Thin corpus callosum, Camptodactyly	OMIM:617537
X-Linked Intellectual Disability, Cantagrel Type	Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral cortical atrophy	ORPHA:85277
Orofaciodigital Syndrome Type 5	Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ...	ORPHA:2919
Muscular Dystrophy, Congenital, With Or Without Seizures	Elevated circulating creatine kinase concentration, Loss of ambulation, Ataxia, Dysphagia, Respir...	OMIM:620166
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm...	ORPHA:98754
Brachydactyly, Type B1	Aplasia/Hypoplasia of the distal phalanges of the hand, Short long bone, Camptodactyly, Type B br...	OMIM:113000
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Post...	OMIM:263520
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short stature, Pulmonary hypoplasia	OMIM:614091
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Respiratory failure, Recurrent res...	ORPHA:2759
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Gabriele-De Vries Syndrome	Sandal gap, Cortical dysplasia, Long fingers, Lateral ventricle dilatation, Hallux valgus, Finger...	OMIM:617557
49,Xyyyy Syndrome	Large carpal bones, Abnormality of the epiphyses of the elbow, Cubitus valgus, Short 5th finger, ...	ORPHA:99330
Peroxisome Biogenesis Disorder 11A (Zellweger)	Apnea	OMIM:614883
Hypomelanosis Of Ito	Cerebral atrophy, Radial deviation of finger, Microcephaly, Hand polydactyly, Syndactyly, Clinoda...	OMIM:300337
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum, Abnormal globus pal...	OMIM:618603
Distal Triplication 15Q	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:314588
Linear Verrucous Nevus Syndrome	Dandy-Walker malformation, Short metacarpal, Toe syndactyly, Ventriculomegaly, Aplasia/Hypoplasia...	ORPHA:2611
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy	OMIM:602390
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Enlarged kidney, Cholestasis, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal i...	ORPHA:731
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Clinodactyly of the 5th finger, Anterior p...	ORPHA:177907
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Mitochondrial Complex I Deficiency, Nuclear Type 10	Broad-based gait, Ataxia, Dysphagia, Respiratory failure, Dysmetria	OMIM:618233
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Kagami-Ogata Syndrome	Pulmonary hypoplasia	OMIM:608149
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:600649
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm...	ORPHA:98793
Glycogen Storage Disease Of Heart, Lethal Congenital	Pulmonary edema, Respiratory distress, Pleural effusion, Apnea, Cyanosis	OMIM:261740
Developmental And Epileptic Encephalopathy 90	Hypothyroidism, Apneic episodes in infancy	OMIM:301058
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Microcephaly, Cortical dysplasia, Ventriculomegaly, Hypoplasia of the corpus callosum	ORPHA:457260
Congenital Myopathy 22B, Severe Fetal	Pulmonary hypoplasia, Pleural effusion, Respiratory distress	OMIM:620369
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm...	ORPHA:177904
Aminopterin Syndrome Sine Aminopterin	Megalencephaly, Microcephaly, Arachnodactyly, Rudimentary postaxial polydactyly of hands, Syndact...	OMIM:600325
Bainbridge-Ropers Syndrome	Hypoplasia of the corpus callosum, Contracture of the proximal interphalangeal joint of the 4th f...	OMIM:615485
4Q21 Microdeletion Syndrome	Micromelia, Short palm, Toe syndactyly, Agenesis of corpus callosum, Ventriculomegaly, Short foot...	ORPHA:238750
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Joubert Syndrome 7	Tachypnea, Central apnea, Episodic tachypnea	OMIM:611560
Hsd10 Disease	Frontotemporal cerebral atrophy, Ventriculomegaly, Focal white matter lesions, Microcephaly	ORPHA:391417
Galloway-Mowat Syndrome 5	Periventricular leukomalacia, Ventriculomegaly, Primary microcephaly, Pachygyria	OMIM:617731
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Cerebral atrophy, Hypoplasia of the corpus callosum, Polymicrogyria, Microcephaly, Ventriculomegaly	OMIM:614254
Meckel Syndrome 14	Pneumothorax, Cyanosis, Pulmonary hypoplasia	OMIM:619879
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm...	ORPHA:177901
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Short stature, Pulmonary hypoplasia	OMIM:615503
Propionic Acidemia	Short stature, Tachypnea, Apnea	OMIM:606054
Fatco Syndrome	Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli...	ORPHA:2492
6P22 Microdeletion Syndrome	Hydrocephalus, Finger syndactyly, Clinodactyly	ORPHA:251046
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hypoplasia of the corpus callosum, Sandal gap, Polymicrogyria, Cortical dysplasia, Abnormal cereb...	OMIM:300354
Sclerosteosis	Diaphyseal undertubulation, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of ...	ORPHA:3152
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cerebral atrophy, Short finger, Hypoplasia of the corpus callosum, 2-3 toe syndactyly, Tapered fi...	OMIM:618659
Triosephosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Respiratory insufficiency, Tremor, Death in adolescence, Death in infan...	OMIM:615512
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Focal white matter lesions, Abnormal thalamus morphology, Hypoplasia ...	ORPHA:557003
Developmental And Epileptic Encephalopathy 65	Cerebral atrophy, Ventriculomegaly, Microcephaly	OMIM:618008
Lymphatic Malformation 8	Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis	OMIM:618773
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Cerebral atrophy, Microcephaly, Dilated fourth ventricle, Simplified gyral pattern, Agenesis of c...	OMIM:620428
Periventricular Nodular Heterotopia 1	Hypoplasia of the corpus callosum, Short finger, Thin corpus callosum, Syndactyly, Clinodactyly	OMIM:300049
Mehmo Syndrome	Microcephaly, Ventriculomegaly, Decreased response to growth hormone stimulation test, Hypoplasia...	OMIM:300148
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Microhydranencephaly	Hydranencephaly, Microcephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly, Talipes...	OMIM:605013
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly	ORPHA:664
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis	OMIM:619658
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Meckel Syndrome, Type 8	Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Pericardial effusion	OMIM:613885
Vacterl Association With Hydrocephalus	Stillbirth, Respiratory insufficiency, Anal atresia, Renal hypoplasia, Respiratory failure	OMIM:276950
Czeizel-Losonci Syndrome	Pulmonary hypoplasia	ORPHA:2437
Mucopolysaccharidosis Type 1	Short stature, Recurrent respiratory infections, Apnea	ORPHA:579
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno...	ORPHA:1414
Kohlschutter-Tonz Syndrome	Microcephaly, Ventriculomegaly, Cerebral atrophy	OMIM:226750
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Flexion contracture of toe, Finger joint contracture, Cerebral cortical atrophy, Hyperintensity o...	ORPHA:48431
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital t...	OMIM:618886
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hypoplasia of the corpus callosum, Megalencephaly, Hydrocephalus, Polymicrogyria, Postaxial polyd...	OMIM:603387
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Bronchiectasis, Interstitial emphysema, Pulmonary hypoplasia	OMIM:619708
Goldberg-Shprintzen Megacolon Syndrome	Hypoplasia of the corpus callosum, Finger syndactyly, Microcephaly, Pachygyria, Ventriculomegaly	ORPHA:66629
Mosaic Variegated Aneuploidy Syndrome	Abnormal lung lobation, Short stature, Growth delay, Hypothyroidism, Apnea, Intrauterine growth r...	ORPHA:1052
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Type II lissencephaly, Camptodactyly of finger, Ventriculomegaly, Aplasia/Hypoplas...	ORPHA:272
Nasu-Hakola Disease	Hydrocephalus, Cerebral calcification, Cerebral cortical atrophy, Abnormal epiphysis morphology, ...	ORPHA:2770
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Periventricular leukomalacia, Thin corpus callosum, Hammertoe, Hydrocephalus, Microcephaly, Colpo...	OMIM:619833
Oxoglutarate Dehydrogenase Deficiency	Ventriculomegaly	OMIM:203740
Double Outlet Right Ventricle	Hypoparathyroidism, Pulmonary artery atresia, Short stature, Aplasia/Hypoplasia of the thymus, Ta...	ORPHA:3426
Narp Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Abnormal basal ganglia MRI signal intensity, Cortico...	ORPHA:644
Postsynaptic Congenital Myasthenic Syndromes	Fatigable weakness of respiratory muscles, High palate, Decreased miniature endplate potentials, ...	ORPHA:98913
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypoxemia, Pulmonary edema, Tachypnea, Pleural effusion	ORPHA:542323
Crane-Heise Syndrome	Finger syndactyly, Toe syndactyly, Short distal phalanx of finger, Ventriculomegaly, Aplasia/Hypo...	ORPHA:1512
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Single transverse palmar crease, Choroid plexu...	OMIM:617866
Linear Skin Defects With Multiple Congenital Anomalies 3	Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:300952
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Ascites, Splenomegaly, Cardiom...	OMIM:235200
Femoral-Facial Syndrome	Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Short femur, Coxa vara, Radio...	ORPHA:1988
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Meckel Syndrome, Type 6	Pulmonary hypoplasia, Bilobed right lung	OMIM:612284
Mercury Poisoning	Anorexia, Acute kidney injury, Tremor, Respiratory failure, Dystonia, Interstitial pneumonitis	ORPHA:330021
Mosaic Trisomy 16	Intrauterine growth retardation, Abnormal lung morphology, Maternal diabetes, Pulmonary hypoplasia	ORPHA:1708
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)	Perisylvian polymicrogyria, Frontal polymicrogyria, Ventriculomegaly, Cerebral dysmyelination	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	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Brachytelephalangic Chondrodysplasia Punctata	Postnatal growth retardation, Recurrent respiratory infections, Proportionate short stature, Pulm...	ORPHA:79345
Cryofibrinogenemia, Familial Primary	Transient nephrotic syndrome, Hematuria, Acrocyanosis	OMIM:123540
Achondrogenesis, Type Ia	Disproportionate short-trunk short stature, Stillbirth, Pulmonary hypoplasia	OMIM:200600
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level ...	OMIM:212140
Surfactant Metabolism Dysfunction, Pulmonary, 5	Intraalveolar phospholipid accumulation, Interlobular septal thickening, Exertional dyspnea, Dyspnea	OMIM:614370
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Pulmonary hypoplasia	OMIM:263200
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Increas...	ORPHA:90793
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly	OMIM:214900
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Ventriculomegaly, Avascular necrosis of the capital femoral epiphysis	OMIM:611555
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Neurodevelopmental Disorder With Involuntary Movements	Microcephaly, Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus callosum	OMIM:617493
Adrenocortical Carcinoma	Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Adrenocorti...	ORPHA:1501
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Fanconi Renotubular Syndrome 5	Lung adenocarcinoma, Emphysema, Pulmonary fibrosis	OMIM:618913
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Spastic Paraplegia 50, Autosomal Recessive	Hypoplasia of the corpus callosum, Adducted thumb, Microcephaly, Ventriculomegaly, Talipes equino...	OMIM:612936
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Hypoplasia of the corpus callosum, Secondary microcephaly, Clinodactyly of the 5th toe, Clinodact...	OMIM:620113
Intellectual Developmental Disorder, Autosomal Recessive 41	Ventriculomegaly, Prominent fingertip pads, Clinodactyly of the 5th finger	OMIM:615637
Aicardi-Goutieres Syndrome 4	Cerebral atrophy, Hydrocephalus, Progressive microcephaly, Cerebral calcification, Ventriculomegaly	OMIM:610333
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Hypopnea, Aspiration pneumonia	OMIM:619482
Glycogen Storage Disease Due To Acid Maltase Deficiency	Difficulty walking, Atelectasis, Inability to walk, Hepatomegaly, Abnormal circulating enzyme con...	ORPHA:365
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Exertional dyspnea, Atelectasis, Recurrent lower resp...	OMIM:620233
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Postnatal growth retardation, Short nose, Renal neoplasm, Atelectasis, Repeated pneumothoraces, H...	ORPHA:536467
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Chronic Pneumonitis Of Infancy	Ground-glass opacification, Diffuse reticular or finely nodular infiltrations, Hypoxemia, Cyanosi...	ORPHA:91359
Summitt Syndrome	Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyly, Short palm,...	ORPHA:3210
Hartsfield Syndrome	Intrauterine growth retardation, Microphthalmia, Encephalocele	ORPHA:2117
Chromosome 3Q13.31 Deletion Syndrome	Ventriculomegaly, Proximal placement of thumb, Agenesis of corpus callosum	OMIM:615433
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Renal insuffi...	ORPHA:79312
Autosomal Recessive Multiple Pterygium Syndrome	Intrauterine growth retardation, Hypogonadism, Pulmonary hypoplasia, Short stature	ORPHA:2990
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Apneic episodes in infancy	OMIM:610006
Bardet-Biedl Syndrome 4	Polydactyly, Syndactyly, Brachydactyly	OMIM:615982
Caribbean Parkinsonism	T2 hypointense basal ganglia, Ventriculomegaly, Midline brain calcifications, Cerebral cortical a...	ORPHA:97355
Aicardi-Goutieres Syndrome 9	Cerebral atrophy, Cerebral calcification, Diffuse leukoencephalopathy, Microcephaly, Basal gangli...	OMIM:619487
Dravet Syndrome	Obsessive-compulsive trait, Bradykinesia, Cyanotic episode, Impulsivity, Progressive gait ataxia	ORPHA:33069
Orofaciodigital Syndrome Ii	Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Hydrocephalus...	OMIM:252100
Curry-Jones Syndrome	Megalencephaly, Polymicrogyria, Triphalangeal hallux, Hemimegalencephaly, Broad thumb, Duplicatio...	OMIM:601707
Lujo Hemorrhagic Fever	Purpura, Atelectasis, Microscopic hematuria, Rhinitis, Ecchymosis, Dysphagia, Oliguria, Renal ins...	ORPHA:319213
Cornelia De Lange Syndrome 5	Limited elbow extension, Clinodactyly of the 5th finger, Proximal placement of thumb, Microcephal...	OMIM:300882
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Hypoplasia of the corpus callosum, Microcephaly, Short humerus, Lateral ventricle dilatation, Sho...	OMIM:618367
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Polymicrogyria, Finger syndactyly, Foot polydactyly, Hand polydactyly, Toe syndact...	ORPHA:60040
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Apnea, Male hypogonadism	OMIM:300055
Mucolipidosis Iv	Microcephaly, Cerebral dysmyelination, Dysplastic corpus callosum	OMIM:252650
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Pfeiffer Syndrome	3-4 toe cutaneous syndactyly, Hydrocephalus, Shortening of all middle phalanges of the fingers, F...	OMIM:101600
Laryngeal Abductor Paralysis	Cyanosis, Dysphagia	OMIM:150260
Temtamy Syndrome	Short 2nd toe, Agenesis of corpus callosum, Brachydactyly, Ventriculomegaly, Thick corpus callosu...	OMIM:218340
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Proximal Spinal Muscular Atrophy	Difficulty walking, Inability to walk, Respiratory insufficiency due to muscle weakness, Recurren...	ORPHA:70
Monosomy 5P	Microcephaly, Finger syndactyly, Small hand	ORPHA:281
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Triphalangeal thumb, Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar kerato...	ORPHA:2251
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Purpura, Glomerulopathy, Hematuria, Nasal polyposis, Gait disturbance, Ur...	ORPHA:183
Combined Oxidative Phosphorylation Deficiency 4	Respiratory failure, Hepatomegaly, Opisthotonus, Death in infancy	OMIM:610678
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools	OMIM:619868
Charlie M Syndrome	Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Brachydactyly	ORPHA:1406
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Hyperintensity of cerebral whi...	ORPHA:500180
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Limited elbow extension, Genu valgum, Monkey wrench femoral neck, Clinodactyly of the 2nd finger,...	OMIM:618870
Unilateral Polymicrogyria	Apnea, Cyanosis, Pulmonary arteriovenous malformation	ORPHA:268943
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Growth delay, Apnea, Abnormal pattern of respiration	OMIM:608800
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Death in infancy, Nephrocalcinosis, Multiple renal cysts, Hyperaldosteronism, Na...	ORPHA:534
Baraitser-Winter Syndrome 2	Secondary microcephaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly, Ventriculomegaly	OMIM:614583
Congenital Muscular Dystrophy Without Intellectual Disability	Microcephaly, Ventriculomegaly, Abnormal cerebral white matter morphology, Pachygyria	ORPHA:370980
Intellectual Developmental Disorder, Autosomal Recessive 46	Ventriculomegaly	OMIM:616116
Wieacker-Wolff Syndrome	Short stature, Apnea	OMIM:314580
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Stillbirth, Adrenal hypoplasia, Thyroid hypoplasia, Short stature, Pulmonary hypoplasia, Mild int...	OMIM:308050
Joubert Syndrome 22	Intrauterine growth retardation, Microphthalmia	OMIM:615665
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Microcephaly, Polymicrogyria, Colpocephaly	OMIM:618731
Lymphatic Malformation 7	Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc...	OMIM:617300
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal lung lobation, Anomalous pulmonary venous return, Aplasia/Hypoplasia of the lungs, Death...	ORPHA:1120
Congenital Multicore Myopathy With External Ophthalmoplegia	High palate, Tented upper lip vermilion, Pneumonia, Respiratory failure, Recurrent respiratory in...	ORPHA:98905
Congenital Tricuspid Valve Dysplasia	Cyanosis, Hypoxemia, Intrauterine growth retardation, Tachypnea, Anomalous pulmonary venous return	ORPHA:555874
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Abnormality of the hand, Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda...	OMIM:246570
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	2-3 toe syndactyly, Long fingers, Diffuse white matter abnormalities, Agenesis of corpus callosum...	OMIM:218000
Pontocerebellar Hypoplasia, Type 9	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Secondary microcephaly, Cerebral...	OMIM:615809
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Hydrocephalus, Communicating hydrocephalus, Microcephaly, Colpocephaly, Simplified gyral pattern,...	OMIM:615219
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Episodic tachypnea	ORPHA:163961
Juvenile Huntington Disease	Neuronal loss in basal ganglia, Ventriculomegaly, Abnormal cerebral white matter morphology	ORPHA:248111
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Copper accumulat...	OMIM:616828
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrauterine growth retardation, Apnea, Hypoplasia of the thymus, Death in childhood	OMIM:214110
Congenital Myopathy 17	Pulmonary hypoplasia, Respiratory tract infection	OMIM:618975
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Christianson Syndrome	Adducted thumb, Microcephaly, Cerebral cortical atrophy, Ventriculomegaly, Aplasia/Hypoplasia of ...	ORPHA:85278
Camptobrachydactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar...	ORPHA:1319
Verloove Vanhorick-Brubakk Syndrome	Abnormality of the parathyroid gland, Aplasia/Hypoplasia of the lungs	ORPHA:3429
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
22Q11.2 Deletion Syndrome	Intestinal malrotation, Multiple renal cysts, Intrauterine growth retardation, Aganglionic megaco...	ORPHA:567
Endocrine-Cerebroosteodysplasia	Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Hydrocephalus, Single transve...	OMIM:612651
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Decreased response to growth hormone stimulation test, Microcephaly, Co...	OMIM:609053
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis	ORPHA:91130
Chromosome 13Q33-Q34 Deletion Syndrome	Short stature, Pulmonary hypoplasia	OMIM:619148
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda...	OMIM:135750
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Polydipsia, Delayed puberty, Hypoventilation, Recurrent lower respiratory tract infections, Antev...	ORPHA:293987
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Fusion of the left and right thalami, Agenesis of corpus callosum, Abnormality of ...	OMIM:617542
Even-Plus Syndrome	Dysplastic corpus callosum, Epiphyseal dysplasia, Agenesis of corpus callosum, Dysplasia of the f...	OMIM:616854
Niemann-Pick Disease Type C	Limb dystonia, Ataxia, Dysphagia, Splenomegaly, Aggressive behavior, Jaundice, Axial dystonia, Tr...	ORPHA:646
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Respiratory failure, Difficulty walking, Elevated circulating creatine kinase concentration	OMIM:603689
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:848
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Acrocephalopolydactylous Dysplasia	Pulmonary hypoplasia, Extrapulmonary lobar sequestration	OMIM:200995
Gm1-Gangliosidosis, Type Iii	Ventriculomegaly, Diffuse cerebral atrophy, Hypoplastic acetabulae, Flared iliac wing	OMIM:230650
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Coxa valga, Hip dislocation	OMIM:109120
Thanatophoric Dysplasia Type 2	Short stature, Aplasia/Hypoplasia of the lungs	ORPHA:93274
Autosomal Recessive Cutis Laxa Type 2A	Secondary microcephaly, Dysplastic corpus callosum, Dandy-Walker malformation, Thick cerebral cor...	ORPHA:357058
Lymphangioleiomyomatosis	Pneumothorax, Renal neoplasm, Atelectasis, Emphysema, Recurrent respiratory infections, Hematuria...	ORPHA:538
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Increased circulating free fatty acid level, Pneumonia, Tachypnea, Episodic...	ORPHA:26793
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Apnea	OMIM:616896
Auriculocondylar Syndrome 1	Apnea	OMIM:602483
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Raine Syndrome	Short stature, Neonatal death, Pulmonary hypoplasia, Death in infancy	OMIM:259775
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Second metatarsal posteriorly placed, Elbow flexion contracture, Camptodactyl...	OMIM:214150
Acropectorovertebral Dysplasia	Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Broad thum...	ORPHA:957
Developmental And Epileptic Encephalopathy 101	Apnea	OMIM:619814
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Alkuraya-Kucinskas Syndrome	Overlapping fingers, Adducted thumb, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, ...	OMIM:617822
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Apnea	OMIM:612949
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly	OMIM:619064
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Secondary microcephaly, Ventriculomegaly, Neonatal death	OMIM:613730
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Choanal Atresia	Choking episodes, Recurrent respiratory infections, Cyanosis, Nasal congestion	ORPHA:137914
Snakebite Envenomation	Acute kidney injury, Gingival bleeding, Neuromuscular dysphagia, Respiratory failure, Pseudobulba...	ORPHA:449285
Clcn4-Related X-Linked Intellectual Disability Syndrome	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Microcephaly, Cerebral cortical ...	ORPHA:485350
Noonan Syndrome 12	Ventriculomegaly, Decreased response to growth hormone stimulation test, Proximal placement of thumb	OMIM:618624
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites...	OMIM:265300
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Pancreatitis, Respiratory failure	ORPHA:70578
Renal Agenesis, Bilateral	Pulmonary hypoplasia	ORPHA:1848
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Overlapping toe, Microcephaly, Cerebral cortical atrophy...	ORPHA:505237
Oculoauriculovertebral Spectrum With Radial Defects	Short stature, Maternal diabetes, Aplasia/Hypoplasia of the lungs	ORPHA:2549
Muscular Dystrophy, Duchenne Type	Tip-toe gait, Waddling gait, Elevated circulating creatine kinase concentration, Respiratory insu...	OMIM:310200
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Hypoplasia of the corpus callosum, Adducted thumb, Proximal placement of thumb, 2-3 toe syndactyl...	OMIM:619121
Cardiomyopathy, Dilated, 2H	Tachypnea, Neonatal death	OMIM:620203
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Secondary microcephaly, Hip subluxation, Cerebral cortical atrophy, Agenesis of corpus callosum, ...	ORPHA:500144
Neurological Conditions Associated With Aminoacylase 1 Deficiency	Apnea	ORPHA:137754
T-Cell Immunodeficiency With Thymic Aplasia	Emphysema, Recurrent bronchopulmonary infections, Recurrent pneumonia, Aplasia of the thymus, Bro...	OMIM:242700
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Cerebral atrophy, Ventriculomegaly, Abnormal cerebral white matter morphology	OMIM:617268
Craniofrontonasal Dysplasia	Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly,...	ORPHA:1520
Meier-Gorlin Syndrome 4	Intrauterine growth retardation, Birth length less than 3rd percentile, Emphysema, Short stature	OMIM:613804
Restrictive Dermopathy 2	Intrauterine growth retardation, Convex nasal ridge, Rectal prolapse, Cyanosis	OMIM:619793
Rhombencephalosynapsis	Polydactyly, Hydrocephalus, Finger syndactyly, Septo-optic dysplasia, Fusion of the left and righ...	ORPHA:59315
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Apnea, Cyanosis	OMIM:261680
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Ataxia	ORPHA:2254
Riddle Syndrome	Abnormal pulmonary interstitial morphology, Bronchitis, Neonatal asphyxia, Enuresis nocturna, Gai...	ORPHA:420741
Joubert Syndrome	Abnormal pattern of respiration, Apnea, Episodic tachypnea, Abnormality of the hypothalamus-pitui...	ORPHA:475
Neuronal Intranuclear Inclusion Disease	Ventriculomegaly, Leukoencephalopathy	OMIM:603472
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure, Recurrent respiratory infections, Hepatomegaly, Splenomegaly	ORPHA:3226
49,Xxxyy Syndrome	Bilateral talipes equinovarus, Abnormal cerebral white matter morphology, Ventriculomegaly, Incre...	ORPHA:261534
Radio-Renal Syndrome	High, narrow palate, Renal hypoplasia/aplasia, Chylothorax, Pleural effusion, Renal agenesis, Dow...	ORPHA:3015
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Short stature, Microphthalmia	OMIM:251270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Hypoplasia of the corpus callosum, Microcephaly, Cerebral cortical atrophy, Ventriculomegaly, Hip...	OMIM:613156
Developmental And Epileptic Encephalopathy 31B	Secondary microcephaly, Thin corpus callosum, Reduced cerebral white matter volume, Colpocephaly,...	OMIM:620352
Neu-Laxova Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia, Hypogonadism	ORPHA:2671
Hyperglycinemia, Lactic Acidosis, And Seizures	Growth delay, Apnea	OMIM:614462
Congenital Disorder Of Deglycosylation 2	Thin corpus callosum, Sandal gap, Polymicrogyria, Hypothalamic hamartoma, Bilateral talipes equin...	OMIM:619775
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Polyhydramnios	ORPHA:2547
Oculocerebrocutaneous Syndrome	Hydrocephalus, Polymicrogyria, Dandy-Walker malformation, Finger syndactyly, Congenital hip dislo...	ORPHA:1647
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Type I diabetes mellitus, Emphysema, Pulmonary fibrosis	OMIM:620365
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Cerebrofacioarticular Syndrome	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Caudal appendage, Camptodactyly, M...	ORPHA:314679
Helsmoortel-Van Der Aa Syndrome	Polydactyly, Decreased response to growth hormone stimulation test, Genu valgum, Clinodactyly of ...	OMIM:615873
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis, Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morpholog...	ORPHA:1788
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Short stature, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy	OMIM:208500
Pagod Syndrome	Death in infancy, Short stature, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Abnormality o...	ORPHA:991
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Death in childhood, Chylothorax, High palate, Death in infancy, Dysphagia, Respiratory failure	OMIM:620278
Oligomeganephronia	Pulmonary venous occlusion, Pulmonary hypoplasia	ORPHA:2260
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Hydranencephaly, Hydrocephalus, Dis...	ORPHA:2839
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb	ORPHA:1825
Familial Multiple Lipomatosis	Hypoplasia of the corpus callosum, Cerebral calcification, Hyperlipidemia, Bowing of the long bon...	ORPHA:199276
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp...	OMIM:115197
Greenberg Dysplasia	Abnormal lung lobation, Stillbirth, Rhizomelia, Disproportionate short-limb short stature, Severe...	OMIM:215140
Xq12-Q13.3 Duplication Syndrome	Hypoplasia of the corpus callosum, Abnormal basal ganglia MRI signal intensity, 2-3 toe syndactyl...	ORPHA:314389
Sting-Associated Vasculopathy, Infantile-Onset	Tachypnea, Recurrent respiratory infections, Pulmonary fibrosis	OMIM:615934
Smith-Kingsmore Syndrome	Hypoplasia of the corpus callosum, Short proximal phalanx of finger, Megalencephaly, Deep palmar ...	OMIM:616638
Farber Disease	Atelectasis, Short stature, Diffuse reticular or finely nodular infiltrations, Recurrent upper re...	ORPHA:333
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Ventriculomegaly, Short 3rd toe, Tapered finger, Short 4th toe	OMIM:618707
Mulibrey Nanism	Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, Cardiomegaly	OMIM:253250
Peroxisome Biogenesis Disorder 1A (Zellweger)	Adrenal hypoplasia, Pulmonary hypoplasia, Death in childhood	OMIM:214100
Coach Syndrome 2	Apneic episodes in infancy	OMIM:619111
Attrv122I Amyloidosis	Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv...	ORPHA:85451
Oculocerebrofacial Syndrome, Kaufman Type	Thin vermilion border, High, narrow palate, Short philtrum, Microdontia, Wide mouth, Smooth philt...	ORPHA:2707
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Pulmonary hypoplasia, Stillbirth, Rhizomelia	OMIM:616300
Spastic Paraplegia 75, Autosomal Recessive	Ventriculomegaly, Corpus callosum atrophy	OMIM:616680
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Femur fracture, Lateral ventricle dilatation	OMIM:612301
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Vacterl With Hydrocephalus	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:3412
20P12.3 Microdeletion Syndrome	Broad thumb, Ventriculomegaly, Broad hallux phalanx	ORPHA:261295
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Hereditary Methemoglobinemia	Cyanosis, Athetosis	ORPHA:621
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, Abnormality of...	ORPHA:88618
Renal Agenesis	Pulmonary hypoplasia	ORPHA:411709
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Cam...	ORPHA:88630
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Megabladder, Congenital	Stage 5 chronic kidney disease, Fetal megacystis, Multiple glomerular cysts, Hyperechogenic kidneys	OMIM:618719
Orofaciodigital Syndrome Xix	Narrow palate, Cleft soft palate, Midline notching of lower lip, High palate, Narrow mouth, Micro...	OMIM:620107
Fibrodysplasia Ossificans Progressiva	Respiratory insufficiency, Respiratory failure, Widely spaced teeth, Elevated circulating alkalin...	OMIM:135100
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypoventilation, Apnea	OMIM:617143
Pulmonary Capillary Hemangiomatosis	Ground-glass opacification, Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary...	ORPHA:199241
Fructose-1,6-Bisphosphatase Deficiency	Apnea, Dyspnea, Hyperventilation	OMIM:229700
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Rett Syndrome	Short stature, Intermittent hyperventilation, Apnea	OMIM:312750
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Congenital Heart Block	Intrauterine growth retardation, Cyanosis, Pleural effusion	ORPHA:60041
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hydrocephalus, Polymicrogyria, Dandy-Walker malformation, Microcephaly, Agenesis...	OMIM:225790
Holzgreve Syndrome	Intrauterine growth retardation, Aplasia/Hypoplasia of the lungs	ORPHA:2167
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:75234
Pentalogy Of Cantrell	Pulmonary hypoplasia	ORPHA:1335
Microcephaly 26, Primary, Autosomal Dominant	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly, Simplified gyral pat...	OMIM:619179
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Brachydactyly, Hip dysplasia, ...	OMIM:618381
Pelizaeus-Merzbacher Disease, Connatal Form	Difficulty walking, Inability to walk, Titubation, Dystonic gait, Ataxia, Respiratory failure	ORPHA:280210
Idiopathic Neonatal Atrial Flutter	Tachypnea, Maternal diabetes, Respiratory distress	ORPHA:45452
Neurodevelopmental Disorder With Dystonia And Seizures	Cerebral cortical atrophy, Ventriculomegaly	OMIM:619922
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Growth delay, Recurrent respiratory infections, Apnea, Respiratory distress	ORPHA:17
Craniofacial Dyssynostosis With Short Stature	Hypoplasia of the corpus callosum, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:218350
Atelosteogenesis Type Ii	Pulmonary hypoplasia, Rhizomelia, Rhizomelic arm shortening	ORPHA:56304
19P13.12 Microdeletion Syndrome	Hypoplasia of the corpus callosum, Deep palmar crease, Clinodactyly of the 5th finger, Sandal gap...	ORPHA:254346
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormal lung lobation, Aplasia/Hypoplasia of the lungs	ORPHA:2063
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg...	OMIM:619463
Pitt-Hopkins Syndrome	Postnatal growth retardation, Hyperventilation, Aganglionic megacolon, Anteverted nares, Esophagi...	ORPHA:2896
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Apnea	ORPHA:1129
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Periportal fibrosis, Hypertr...	OMIM:201475
Joubert Syndrome With Oculorenal Defect	Tachypnea, Apnea, Abnormality of the hypothalamus-pituitary axis	ORPHA:2318
17Q12 Microduplication Syndrome	Microphthalmia, Polyhydramnios	ORPHA:261272
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:618652
Moebius Syndrome	Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, Sh...	OMIM:157900
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum, Hypocholesterolemia, Neonatal death	OMIM:618810
Sandestig-Stefanova Syndrome	Hypoplasia of the corpus callosum, Rocker bottom foot, Bilateral single transverse palmar creases...	OMIM:618804
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation...	OMIM:602347
Xp21 Deletion Syndrome	Hypertriglyceridemia, Growth delay, Primary adrenal insufficiency, Apneic episodes in infancy, Hy...	ORPHA:261476
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Microcephaly, Ventriculomegaly, Hip dislocation	OMIM:619059
Lissencephaly, X-Linked, 2	Pachygyria, Lissencephaly, Ventriculomegaly, Agenesis of corpus callosum	OMIM:300215
Maternal Uniparental Disomy Of Chromosome 1	Ventriculomegaly, Single transverse palmar crease, Abnormal limb bone morphology, Epiphyseal stip...	ORPHA:251009
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Ascites, Hypertrophic cardiomyopathy	OMIM:614702
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, 3-Methylglutaconic aciduria, Elevated circulating hepatic transaminase ...	OMIM:618329
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le...	OMIM:300280
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Breath-Holding Spells	Cyanosis	OMIM:607578
Leigh Syndrome	3-Methylglutaconic aciduria, Decreased circulating biotinidase concentration, Methylmalonic acidu...	ORPHA:506
Bohring-Opitz Syndrome	Intrauterine growth retardation, Recurrent respiratory infections, Apnea, Short stature	ORPHA:97297
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Kallmann Syndrome-Heart Disease Syndrome	Delayed puberty, Partial anosmia, Midgut malrotation, Pulmonary artery hypoplasia, Total anosmia,...	ORPHA:2326
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Microcephaly, Abnormal cerebral white matter morphology, Syndactyly, Ventriculomeg...	ORPHA:2169
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Thick lower lip vermilion, Hypospadias, Head-banging, Recurrent urinary tract infections, Vesicou...	OMIM:619103
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Genu valgum, Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus, Short long bone, ...	OMIM:615630
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Microcephaly, Ventriculomegaly, Micromelia	ORPHA:2772
Myotonia Fluctuans	Apnea	ORPHA:99734
Developmental And Epileptic Encephalopathy 49	Dysplastic corpus callosum, Hydrocephalus, Cerebral calcification, Dandy-Walker malformation, Mic...	OMIM:617281
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Hypoplasia of the corpus callosum, Abnormal periventricular white matter morphology, Microcephaly...	ORPHA:466934
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyly, Brachydactyl...	OMIM:605282
Lipoyltransferase 1 Deficiency	Ventriculomegaly, Abnormal cerebral white matter morphology	OMIM:616299
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Epidermolysis Bullosa, Lethal Acantholytic	Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Neonatal death, S...	OMIM:609638
Coffin-Siris Syndrome 11	Esophageal atresia, Cleft soft palate, High palate, Downturned corners of mouth, Bifid uvula, Wid...	OMIM:618779
Warburg Micro Syndrome 1	Short stature, Microphthalmia	OMIM:600118
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Thoracoabdominal Syndrome	Pulmonary hypoplasia	OMIM:313850
Tricuspid Atresia	Cyanosis, Pulmonary artery atresia	ORPHA:1209
Pierpont Syndrome	Short stature, Microphthalmia	OMIM:602342
Fibular Hemimelia	Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi...	ORPHA:93323
Smith-Magenis Syndrome	Hypertriglyceridemia, Short palm, Abnormal forearm morphology, Brachydactyly, Broad palm, Ventric...	OMIM:182290
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Deviation of the thumb, Short hallux, Hydrocephalus, Finger syndactyly, Broa...	ORPHA:93259
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Boutonneuse Fever	Respiratory failure, Elevated circulating hepatic transaminase concentration, Renal insufficiency	ORPHA:83313
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Lethal Congenital Contracture Syndrome 2	Respiratory failure, Akinesia, Hydronephrosis	OMIM:607598
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Ventriculomegaly, Partial agenesis of the corpus callosum, Cavum septum pellucidum	OMIM:619074
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Microcephaly, Rocker bottom foot, Camptodactyly, Dysplastic corpus callosum	OMIM:604273
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Prominent nose, Acrocyanosis, Truncal ataxia, Growth delay	OMIM:614407
Zygomycosis	Pneumothorax, Atelectasis, Gastritis, Acute infectious pneumonia, Colon perforation, Nasal conges...	ORPHA:73263
Scalp-Ear-Nipple Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, 2-3 toe syndactyly, Broad thumb, Lateral ventr...	OMIM:181270
Kcnq2-Related Epileptic Encephalopathy	Apnea	ORPHA:439218
Congenital Rubella Syndrome	Intrauterine growth retardation, Microphthalmia, Aplasia/Hypoplasia of the iris, Short stature	ORPHA:290
Robinow Syndrome, Autosomal Dominant 2	Triangular mouth, Cleft soft palate, Dental crowding, Oligodontia, Gingival overgrowth, Abnormali...	OMIM:616331
Joubert Syndrome With Renal Defect	Abnormal pattern of respiration, Apnea, Abnormality of the hypothalamus-pituitary axis	ORPHA:220497
Netherton Syndrome	Short stature, Recurrent respiratory infections, Emphysema	ORPHA:634
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Abetalipoproteinemia	Steatorrhea, Steppage gait, Elevated circulating hepatic transaminase concentration, Hepatic stea...	ORPHA:14
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Nephrocalcinosis, Right atrial enlargement	OMIM:614473
Fryns Syndrome	Pulmonary hypoplasia	ORPHA:2059
Hyperekplexia 3	Apnea	OMIM:614618
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Death in childhood, Torticollis, Tremor, Ataxia, Restlessness, Respiratory failure	OMIM:617186
Lenz-Majewski Hyperostotic Dwarfism	Dysplastic corpus callosum, Diaphyseal undertubulation, Flared metaphysis, Hyperextensibility of ...	OMIM:151050
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Widely spaced teeth, Multiple bladder diverticula, Neonatal asphyxia, Microdontia, Hypoplasia of ...	ORPHA:2728
Mitochondrial Trifunctional Protein Deficiency	Tip-toe gait, Respiratory insufficiency, Chronic hepatic failure, Cholestasis, Respiratory failur...	ORPHA:746
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Bronchitis, Emphysema	ORPHA:60
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Dysplastic corpus callosum, Polymicrogyria, Microcephaly, Agenesis of corpus callosum, Lissencephaly	OMIM:614833
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Intrauterine growth retardation, Microphthalmia, Rhizomelia, Short stature	OMIM:300863
Rubinstein-Taybi Syndrome 2	Short 5th toe, Short first metatarsal, Prominent fingertip pads, Microcephaly, Broad thumb, Broad...	OMIM:613684
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Pulmonary hypoplasia	OMIM:614080
Cerebrooculofacioskeletal Syndrome 2	Intrauterine growth retardation, Microphthalmia, Growth delay	OMIM:610756
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Respiratory distress, Neonatal death, Severe short stature, Disproportionate short st...	OMIM:616482
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Respiratory failure, Ventilator dependence with inability to wean, Urinary incontinence	OMIM:604320
Acromelic Frontonasal Dysplasia	Patellar hypoplasia, Choroid plexus cyst, Anterior pituitary hypoplasia, Aplasia/Hypoplasia of th...	ORPHA:1827
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Cer...	ORPHA:1855
Distal Deletion 15Q	Postnatal growth retardation, Short stature, Growth delay, Pulmonary hypoplasia, Decreased serum ...	ORPHA:1596
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Short greater sciatic notch, Hydrocephalus, Femoral bowing, Split...	ORPHA:1860
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Encephalopathy, Ethylmalonic	Petechiae, Ethylmalonic aciduria, Death in infancy, Ataxia, Acrocyanosis	OMIM:602473
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Exertional dyspnea, Cyanosis, Cardiac t...	ORPHA:99125
Meckel Syndrome, Type 2	Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation	OMIM:603194
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Ureterocele, Abnormality of the bladder, Abnormal oral mucosa ...	ORPHA:79404
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Secondary microcephaly, Hypoplasia of the corpus callosum, Elbow flexion contracture, Microcephal...	OMIM:300868
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Triphalangeal thumb, Finger syndactyly, Microcephaly, Arachnodactyly, Camptodactyly of finger, Sh...	ORPHA:2994
Meckel Syndrome, Type 5	Occipital encephalocele, Microphthalmia, Anencephaly	OMIM:611561
Hypocomplementemic Urticarial Vasculitis	Pleural effusion, Emphysema, Dyspnea	ORPHA:36412
Recombinant Chromosome 8 Syndrome	Cerebral atrophy, Secondary microcephaly, Clinodactyly of the 5th finger, Camptodactyly, Ventricu...	OMIM:179613
Ulbright-Hodes Syndrome	Postnatal growth retardation, Pneumothorax, Maternal diabetes, Respiratory distress, Severe intra...	ORPHA:3404
Weaver Syndrome	Abnormal metaphysis morphology, Sandal gap, Finger syndactyly, Broad thumb, Camptodactyly of fing...	ORPHA:3447
Combined Oxidative Phosphorylation Deficiency 3	Death in childhood, Hepatomegaly, Respiratory insufficiency, Tremor, Elevated circulating creatin...	OMIM:610505
Whim Syndrome	Limb ataxia, Atelectasis, Parotitis, Bronchiectasis, Recurrent pneumonia, Respiratory tract infec...	ORPHA:51636
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno...	OMIM:616028
Marbach-Schaaf Neurodevelopmental Syndrome	Torticollis, Enuresis nocturna, Tremor, Recurrent hand flapping, Attention deficit hyperactivity ...	OMIM:619680
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Apnea, Hyperventilation	OMIM:617903
Mitochondrial Complex I Deficiency, Nuclear Type 19	Secondary microcephaly, Ventriculomegaly	OMIM:618241
Prune Belly Syndrome	Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs	ORPHA:2970
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Periventricular white matter hyperintensities, Ventriculomegaly, Megalencephaly, Cerebral white m...	ORPHA:500533
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Blomstrand Lethal Chondrodysplasia	Neonatal short-limb short stature, Pulmonary hypoplasia, Rhizomelia	ORPHA:50945
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Intellectual Developmental Disorder, X-Linked 12	Microcephaly, Ventriculomegaly, Hip subluxation, Abnormal cerebral white matter morphology	OMIM:300957
Hereditary Motor And Sensory Neuropathy, Type Iic	Respiratory failure, Intercostal muscle weakness, Urinary incontinence, Urinary urgency	OMIM:606071
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Chand Syndrome	Hydroureter, Atelectasis, Cleft palate, Ataxia, Depressed nasal bridge, Bifid tongue	ORPHA:1401
Martsolf Syndrome 1	Periventricular white matter hyperintensities, Enlarged sylvian cistern, Slender ulna, Talipes eq...	OMIM:212720
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Limb-Mammary Syndrome	Split hand, Camptodactyly, Split foot, Syndactyly, Hallux valgus, Joint contracture of the hand	OMIM:603543
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci...	ORPHA:64743
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Impulsivity, Microdontia, Eclabion, Ataxia, Wide mouth, Bruxism, Tip-toe gait, Agitation, Short p...	OMIM:619950
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Death in childhood, Atelectasis, Hepatomegaly, Respiratory insufficiency, Microvesicular hepatic ...	OMIM:618278
Cholera	Tachypnea, Miscarriage, Aspiration pneumonia, Hyperventilation	ORPHA:173
Marshall-Smith Syndrome	Death in childhood, Aspiration pneumonia, Short stature, Apnea, Recurrent aspiration pneumonia, R...	OMIM:602535
Joubert Syndrome With Ocular Defect	Abnormal pattern of respiration, Apnea, Abnormality of the hypothalamus-pituitary axis	ORPHA:220493
Pyruvate Dehydrogenase Deficiency	Intrauterine growth retardation, Tachypnea, Dyspnea, Growth delay	ORPHA:765
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Elevated urinary 3-hydroxybutyric acid, Hepati...	ORPHA:42
2Q31.1 Microdeletion Syndrome	Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Sandal gap...	ORPHA:251014
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Ventriculomegaly	OMIM:300858
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:619051
Combined Oxidative Phosphorylation Deficiency 54	Secondary microcephaly, Periventricular white matter hyperintensities, Dysplastic corpus callosum	OMIM:619737
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Encephalocele	ORPHA:228390
Oculogastrointestinal Neurodevelopmental Syndrome	Short stature, Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Peroxisome Biogenesis Disorder 4A (Zellweger)	Respiratory failure, Hepatomegaly, Renal cyst, Death in infancy	OMIM:614862
Hoxha-Aliu Syndrome	Abnormal metaphysis morphology, Contracture of the proximal interphalangeal joint of the 4th fing...	OMIM:620662
Bardet-Biedl Syndrome 9	Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax...	OMIM:615986
Buratti-Harel Syndrome	Hypospadias, High palate, Velopharyngeal insufficiency, Bifid uvula, Recurrent pneumonia, Submuco...	OMIM:619314
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Lethal Congenital Contracture Syndrome 9	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:616503
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Hypoplasia of the corpus callosum, Microcephaly, Broad thumb, Down-sloping shoulders, Ventriculom...	OMIM:617452
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Oculofaciocardiodental Syndrome	Abnormal palate morphology, Solitary median maxillary central incisor, Tooth malposition, Delayed...	ORPHA:2712
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Meckel diverticulum, Dilatation of the bladder, Tracheoesophageal fistula, Intestinal malrotation...	OMIM:265380
Congenital Muscular Dystrophy With Cerebellar Involvement	Hydrocephalus, Polymicrogyria, Type II lissencephaly, Decreased thalamic volume, Microcephaly, Di...	ORPHA:370959
Central Hypoventilation Syndrome, Congenital, 1	Hypoventilation, Nocturnal hypoventilation, Hypoxemia, Apnea, Hypercapnia, Central hypoventilation	OMIM:209880
Congenital Disorder Of Glycosylation, Type Ij	Apnea	OMIM:608093
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, M...	OMIM:614701
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Cutis Laxa, Autosomal Recessive, Type Iie	Clinodactyly of the 5th finger, Deep palmar crease, Syndactyly, Brachydactyly, Genu varum, Hip di...	OMIM:619451
Apert Syndrome	Limited elbow movement, Megalencephaly, Delayed epiphyseal ossification, Hydrocephalus, Finger sy...	OMIM:101200
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Dyspnea, Intermittent hyperventilation, Apneic episodes in infancy, Episodi...	ORPHA:348
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Microcephaly, Arachnodactyly, Clinodactyly, Syndactyly	OMIM:619092
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Hypoplasia of the corpus callosum, Polymicrogyria, Short 5th finger, Abnormal periventricular whi...	ORPHA:500159
Smith-Magenis Syndrome	Hypertriglyceridemia, Clinodactyly of the 5th finger, Corticospinal tract hypoplasia, Microcephal...	ORPHA:819
Intellectual Developmental Disorder, Autosomal Dominant 21	Microcephaly, Ventriculomegaly, Single transverse palmar crease	OMIM:615502
Congenital Left Ventricular Aneurysm	Apnea	ORPHA:1055
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Absent tibia, Sp...	ORPHA:93322
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Leukoencephalopathy, Small basal gan...	ORPHA:88639
Cleft Palate, Deafness, And Oligodontia	Agenesis of permanent teeth, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:620210
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia	OMIM:308350
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia, Postnatal growth retardation, Respiratory ...	ORPHA:83617
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:300958
X-Linked Lissencephaly With Abnormal Genitalia	Microcephaly, Pachygyria, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:452
Autosomal Recessive Malignant Osteopetrosis	Growth delay, Pulmonary artery stenosis, Apnea, Recurrent respiratory infections	ORPHA:667
Linear Skin Defects With Multiple Congenital Anomalies 2	Short stature, Microphthalmia	OMIM:300887
Glycine Encephalopathy With Normal Serum Glycine	Hypoplasia of the corpus callosum, Elbow flexion contracture, Microcephaly, Hand clenching, Hip c...	OMIM:617301
Camptobrachydactyly	Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly	OMIM:114150
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Central apnea	OMIM:615157
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly	ORPHA:90037
Orofaciodigital Syndrome Type 4	Bilateral lung agenesis, Growth delay, Primary adrenal insufficiency, Pulmonary hypoplasia, Sever...	ORPHA:2753
Immunodeficiency 89 And Autoimmunity	Bronchiectasis, Pleural thickening, Recurrent lower respiratory tract infections, Pulmonary bulla	OMIM:619632
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Decreased circulating inhibin B concentration, Stillbirth, Abnormal response to ...	ORPHA:95699
Autosomal Recessive Cutis Laxa Type 1	Pneumothorax, Multiple bladder diverticula, Emphysema, Respiratory insufficiency, Recurrent urina...	ORPHA:90349
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Apnea	OMIM:210200
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	High palate, Hypoplastic nasal tip, Wide nasal bridge, Cyanosis	ORPHA:3304
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Abnormal pulmonary interstitial morphology, Cirrhosis, Emphysema, Eleva...	OMIM:613658
Amish Lethal Microcephaly	Hepatomegaly, Organic aciduria, Cleft soft palate, Death in infancy	ORPHA:99742
Necrotizing Enterocolitis	Apnea, Cyanosis	ORPHA:391673
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Hypoplasia of the corpus callosum, Decreased response to growth hormone stimulation test, Microce...	OMIM:617260
Saul-Wilson Syndrome	Short metatarsal, Madelung deformity, Cone-shaped epiphyses of the phalanges of the hand, Flared ...	OMIM:618150
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Neonatal death, Pulmonary hypoplasia	OMIM:617925
Cranioectodermal Dysplasia	Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo...	ORPHA:1515
Orofaciodigital Syndrome Viii	Polydactyly, Short tibia, Syndactyly	OMIM:300484
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Respiratory insufficiency, Hyperechogenic kidneys, Proteinuria, Chr...	OMIM:613845
Myotonia, Potassium-Aggravated	Apneic episodes in infancy	OMIM:608390
Combined Oxidative Phosphorylation Deficiency 59	Apnea	OMIM:620646
Bresek Syndrome	Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Growth delay	ORPHA:85284
Cardiocranial Syndrome, Pfeiffer Type	Intrauterine growth retardation, Episodic tachypnea, Short stature, Growth delay	ORPHA:2872
Acrorenal-Mandibular Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:200980
Basilicata-Akhtar Syndrome	Adducted thumb, Single transverse palmar crease, Camptodactyly, Short palm, Ventriculomegaly, Sho...	OMIM:301032
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Transaldolase Deficiency	Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Patent foramen ovale, Hepato...	OMIM:606003
Nevus Comedonicus Syndrome	Microcephaly, Toe syndactyly, Preaxial polydactyly, Finger syndactyly	ORPHA:64754
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow...	ORPHA:1106
Atrial Septal Defect, Ostium Primum Type	Exertional dyspnea, Cyanosis, Dyspnea, Tachypnea, Recurrent respiratory infections, Pulmonary art...	ORPHA:99106
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Microcephaly, Cerebral cortical atrophy, Simplified gyral pattern, Agenesis of corpus callosum, V...	OMIM:617669
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Ventriculomegaly, Overlapping toe, Camptodactyly	ORPHA:363444
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Seckel Syndrome 2	Short stature, Microphthalmia, Growth delay	OMIM:606744
Aicardi-Goutieres Syndrome 1	Purpura, Inability to walk, Petechiae, Self-mutilation, Short stature, Prolonged neonatal jaundic...	OMIM:225750
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology	OMIM:266500
Meier-Gorlin Syndrome 7	Short stature, Pulmonary hypoplasia, Growth delay	OMIM:617063
Illum Syndrome	Apnea	OMIM:208155
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypercapnia, Apnea, Apneic episodes in infancy	OMIM:618222
Filippi Syndrome	Finger clinodactyly, Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Cutaneous...	OMIM:272440
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Cerebral atrophy, Clinodactyly of the 5th finger, Triphalangeal thumb, Dandy-Walker malformation,...	OMIM:220500
Fatal Familial Insomnia	Apnea	OMIM:600072
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Renal tubular acidosis, Cardiomegaly, Hepatic steatosis, Ket...	OMIM:255120
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Pulmonary hypoplasia	OMIM:616546
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Otopalatodigital Syndrome Type 2	Pulmonary hypoplasia	ORPHA:90652
Lissencephaly Due To Lis1 Mutation	Hypoplasia of the corpus callosum, Cavum septum pellucidum, Dysgyria, Progressive microcephaly, P...	ORPHA:95232
Tuberous Sclerosis Complex	Abnormality of the kidney, Hyperactivity, Polycystic kidney dysplasia, Hepatic cysts, Renal cell ...	ORPHA:805
Malignant Atrophic Papulosis	Intestinal perforation, Pleural effusion, Intestinal fistula, Peritonitis, Respiratory failure, A...	ORPHA:679
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Pulmonary hypoplasia	OMIM:271520
Nijmegen Breakage Syndrome	Anal stenosis, Non-midline cleft of the upper lip, Pollakisuria, Anal atresia, Recurrent pneumoni...	ORPHA:647
Perry Syndrome	Inappropriate behavior, Hypoventilation, Bradykinesia, Akinesia, Disinhibition, Short stepped shu...	OMIM:168605
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, Cardiomegaly	OMIM:617713
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1438
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Postnatal growth retardation, Death in childhood, Death in infancy, Short stature, Tachypnea	OMIM:613320
Trichorhinophalangeal Syndrome Type 2	Bilateral single transverse palmar creases, Genu valgum, Cone-shaped epiphyses of the phalanges o...	ORPHA:502
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaconic aciduria, Jaundice, Tremor, Death in infancy, Respiratory arrest, Dystonia, Ne...	OMIM:617248
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Aminopterin/Methotrexate Embryofetopathy	Anencephaly, Aplasia/Hypoplasia of the thumb, Hydrocephalus, Finger syndactyly, Micromelia, Micro...	ORPHA:1908
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Thin corpus callosum, Single transverse palmar crease, Microcephaly, Cerebral cortical atrophy, B...	OMIM:619720
Pitt-Hopkins Syndrome	Secondary microcephaly, Hypoplasia of the corpus callosum, Single transverse palmar crease, Short...	OMIM:610954
Methionine Malabsorption Syndrome	Tachypnea	OMIM:250900
Multiple Pterygium Syndrome, Escobar Variant	Short stature, Pulmonary hypoplasia	OMIM:265000
Holt-Oram Syndrome	Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Abnormality o...	ORPHA:392
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Rhizomelia	ORPHA:93267
Pontocerebellar Hypoplasia, Type 7	Apnea	OMIM:614969
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hyperintensity of cerebral white matter on MRI, Diaphyseal sclerosis, Hydrocephalus, Cerebral cal...	OMIM:618476
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Malan Syndrome	Hypoplasia of the corpus callosum, Ventriculomegaly, Long fingers, Coxa valga	OMIM:614753
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Pancytopenia, Abnormal heart morphology, Thrombocytopenia,...	ORPHA:398124
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Respiratory failure, Tremor, Hydronephrosis, Exaggerated startle response	OMIM:620327
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Acrootoocular Syndrome	Short finger, Decreased response to growth hormone stimulation test, Sandal gap, Short metacarpal...	ORPHA:2980
Ring Chromosome 21 Syndrome	Narrow palm, Microcephaly, Syndactyly, Clinodactyly, Small hand	ORPHA:1445
Alg9-Cdg	Pulmonary hypoplasia, Hypoplasia of the ovary, Rhizomelia, Abnormal lung lobation	ORPHA:79328
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Pulmonic stenosis, Histiocytosis, Hepatospl...	OMIM:602782
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Charcot-Marie-Tooth Disease, Type 4B3	Microcephaly, Syndactyly	OMIM:615284
Ritscher-Schinzel Syndrome 2	Clinodactyly of the 5th finger, Dandy-Walker malformation, Prominent fingertip pads, Camptodactyl...	OMIM:300963
Trisomy 13	Microphthalmia, Hydrops fetalis, Anophthalmia, Intrauterine growth retardation, Aplasia/Hypoplasi...	ORPHA:3378
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Ischemic stroke, Dysplastic corp...	ORPHA:500150
Chromosome 19P13.13 Deletion Syndrome	Microcephaly, Ventriculomegaly	OMIM:613638
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Gracile Bone Dysplasia	Short stature, Microphthalmia, Aniridia, Ascites	OMIM:602361
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Bilateral single transverse palmar creases, Microcephaly, Camptodactyly of finger, Brachydactyly,...	ORPHA:2083
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Ureterocele, Abnormal nasopharynx morphology, Ectodermal dysplasia, Choanal atresia, Depressed na...	OMIM:129900
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Ventriculomegaly, Hip dislocation	OMIM:618547
Monosomy 18P	Short stature, Microphthalmia, Lymphedema	ORPHA:1598
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Orofacial Cleft 13	Oligodontia, Cleft soft palate	OMIM:613857
Geleophysic Dysplasia 3	Long philtrum, Hepatomegaly, Thick vermilion border, Pneumonia, Respiratory failure	OMIM:617809
Intellectual Developmental Disorder, Autosomal Dominant 51	Ventriculomegaly, Long toe, Talipes equinovarus	OMIM:617788
Poland Syndrome	Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle, Syndactyly	OMIM:173800
Ethylene Glycol Poisoning	Pulmonary edema, Cyanosis, Abnormal pattern of respiration, Tachypnea, Episodic respiratory distress	ORPHA:31826
Pallister-Hall Syndrome	Oligodactyly, Hypothalamic hamartoma, Shortening of all distal phalanges of the fingers, Decrease...	OMIM:146510
Metatropic Dysplasia	Respiratory insufficiency, Respiratory failure	OMIM:156530
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Oligohydramnios	OMIM:619053
Orofaciodigital Syndrome Xvi	Apnea	OMIM:617563
Meckel Syndrome, Type 4	Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation	OMIM:611134
Trisomy 1Q	Hydrocephalus, Arachnodactyly, Camptodactyly of finger, Toe syndactyly, Agenesis of corpus callos...	ORPHA:261344
Pontocerebellar Hypoplasia, Type 2B	Cerebral atrophy, Hypoplasia of the corpus callosum, Progressive microcephaly, Single transverse ...	OMIM:612389
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Apnea, Severe intrauterine growth retardation, Death in infancy	OMIM:609069
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Oligodactyly, Split hand, Absent hand	ORPHA:2440
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Limited elbow extension, Diaphyseal undertubulation, Clinodactyly of the 5th finger, Proximal pla...	OMIM:620663
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Microcephaly, Cerebral calcification, Ventriculomegaly	ORPHA:1933
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Limited pronation/...	OMIM:605432
Intellectual Developmental Disorder, Autosomal Dominant 73	Tip-toe gait, Widely spaced teeth, Aggressive behavior, Thick lower lip vermilion, Cleft soft pal...	OMIM:620450
Glass Syndrome	Short stature, Apnea	OMIM:612313
Microcephaly 30, Primary, Autosomal Recessive	Cerebral cortical atrophy, Ventriculomegaly, Primary microcephaly, Clinodactyly of the 5th finger	OMIM:620183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Adams-Oliver Syndrome	Periventricular leukomalacia, Abnormal metacarpal morphology, Hydrocephalus, Absent toe, Abnormal...	ORPHA:974
Cerebellofaciodental Syndrome	Thin corpus callosum, Clinodactyly of the 5th finger, Genu valgum, Slender long bone, Single tran...	OMIM:616202
Listeriosis	Acute kidney injury, Jaundice, Liver abscess, Miscarriage, Tremor, Splenic abscess, Ataxia, Chole...	ORPHA:533
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Intrauterine growth retardation, Microphthalmia, Rhizomelia, Short stature	ORPHA:163966
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Glutaryl-Coa Dehydrogenase Deficiency	Abnormal putamen morphology, Subependymal nodules, Abnormal basal ganglia morphology, Open opercu...	ORPHA:25
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Bone marrow...	ORPHA:549
Neu-Laxova Syndrome 2	Rocker bottom foot, Finger syndactyly, Microcephaly, Toe syndactyly, Lissencephaly, Ventriculomegaly	OMIM:616038
Baraitser-Winter Syndrome 1	Microcephaly, Duplication of phalanx of hallux, Pachygyria, Agenesis of corpus callosum, Lissence...	OMIM:243310
Huntington Disease-Like 1	Cerebral cortical atrophy, Abnormal basal ganglia morphology, Ventriculomegaly, Abnormal shoulder...	ORPHA:157941
Multifocal Atrial Tachycardia	Hypothyroidism, Tachypnea, Dyspnea	ORPHA:3282
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Microcephaly, Simplified gyral pattern, Dysplastic corpus callosum	OMIM:620001
Smith-Lemli-Opitz Syndrome	Abnormal lung lobation, Death in infancy, Short stature, Growth delay, Precocious puberty, Pulmon...	OMIM:270400
Orofaciodigital Syndrome Type 6	Short stature, Apnea, Episodic tachypnea, Growth delay	ORPHA:2754
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Tachypnea	OMIM:620085
Fetal Akinesia Deformation Sequence 1	Intrauterine growth retardation, Stillbirth, Pulmonary hypoplasia	OMIM:208150
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Axial Mesodermal Dysplasia Spectrum	Short stature, Aplasia/Hypoplasia of the lungs	ORPHA:1834
Multiple Sulfatase Deficiency	Cerebral atrophy, Hydrocephalus, Abnormal periventricular white matter morphology, Broad thumb, B...	OMIM:272200
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Timothy Syndrome	Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot	OMIM:601005
Chromosome 1P36 Deletion Syndrome, Distal	Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Hydrocephalus, Polymicrogyria,...	OMIM:607872
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Apnea	OMIM:618056
Hemorrhagic Fever-Renal Syndrome	Pulmonary edema, Agitation, Acute kidney injury, Elevated circulating hepatic transaminase concen...	ORPHA:340
Skraban-Deardorff Syndrome	Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:617616
Congenital Fibrinogen Deficiency	Cyanosis, Volvulus, Bruising susceptibility, Subcutaneous hemorrhage, Micropenis	ORPHA:335
Amyotrophic Lateral Sclerosis	Agitation, Dysphagia, Respiratory failure, Xerostomia, Tongue atrophy	ORPHA:803
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Increased urinary N-acetylglucosamine-rich oligosaccharide le...	OMIM:268800
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, Renal insufficiency, Myog...	ORPHA:228308
Laurence-Moon Syndrome	Bilateral single transverse palmar creases, Hand polydactyly, Finger syndactyly, Brachydactyly	ORPHA:2377
Acromelic Frontonasal Dysostosis	Hypoplasia of the corpus callosum, Patellar hypoplasia, Talipes equinovarus, Cavum septum pelluci...	OMIM:603671
Multiple Mitochondrial Dysfunctions Syndrome 7	Agitation, Hyperactivity, Anteverted nares, Impulsivity, Cyanosis, Lethargy	OMIM:620423
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Rhizomelic Chondrodysplasia Punctata, Type 2	Submucous cleft hard palate, Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity...	OMIM:222765
Williams-Beuren Region Duplication Syndrome	Hypoplasia of the corpus callosum, Ventriculomegaly, Decreased response to growth hormone stimula...	OMIM:609757
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hypoplasia of the corpus callosum, Adducted thumb, Hydrocephalus, Polymicrogyria, Type II lissenc...	OMIM:614643
Bacterial Toxic-Shock Syndrome	Pneumonia, Tachypnea, Respiratory tract infection, Respiratory distress	ORPHA:36234
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Congenital Disorder Of Glycosylation, Type Ii	Microcephaly, Ventriculomegaly, Thin corpus callosum, Focal T2 hyperintense basal ganglia lesion	OMIM:607906
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
Cirrhotic Cardiomyopathy	Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Ascites, Right atrial enlargement, Le...	ORPHA:57777
Poliomyelitis	Anorexia, Respiratory failure requiring assisted ventilation, Agitation, Inability to walk, Dysph...	ORPHA:2912
Joubert Syndrome With Hepatic Defect	Abnormal pattern of respiration, Apnea, Abnormality of the hypothalamus-pituitary axis	ORPHA:1454
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery hypoplasia	OMIM:620025
Alg8-Cdg	Hypoplasia of the corpus callosum, Camptodactyly, Cerebral cortical atrophy, Brachydactyly, Ventr...	ORPHA:79325
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ...	OMIM:226990
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Hydrolethalus	Microphthalmia, Polyhydramnios, Anencephaly, Anophthalmia	ORPHA:2189
Spondylo-Ocular Syndrome	Short stature, Microphthalmia, Disproportionate short-trunk short stature, Aplasia/Hypoplasia of ...	ORPHA:85194
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Pulmonary hypoplasia	ORPHA:1112
Developmental And Epileptic Encephalopathy 80	Hypoplasia of the corpus callosum, Triphalangeal thumb, Polymicrogyria, Abnormal cerebral white m...	OMIM:618580
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Hypospadias, Respiratory insufficiency, Lacticaciduria, Death in infancy, Ataxia, S...	OMIM:252010
Ethylmalonic Encephalopathy	Petechiae, Ethylmalonic aciduria, Ataxia, Acrocyanosis	ORPHA:51188
Restrictive Dermopathy 1	Stillbirth, Adrenal hypoplasia, Neonatal death, Pulmonary hypoplasia, Intrauterine growth retarda...	OMIM:275210
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly	ORPHA:75233
Walker-Warburg Syndrome	Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Dandy-Walker malformation, Microcephal...	ORPHA:899
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Abnormality of the endocrine system, Diabe...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Abnormality of the endocrine system, Diabe...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Abnormality of the endocrine system, Diabe...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Abnormality of the endocrine system, Diabe...	ORPHA:93924
Oculopalatocerebral Syndrome	Short stature, Microphthalmia	OMIM:257910
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation, Decreased response to growth hormone stimulation test, ...	OMIM:220210
Gillespie Syndrome	Ventriculomegaly, Thin corpus callosum	OMIM:206700
Tetraamelia Syndrome 1	Adrenal gland agenesis, Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia	OMIM:273395
Galloway-Mowat Syndrome 9	Secondary microcephaly, Thin corpus callosum, Microcephaly, Cerebral cortical atrophy, Ventriculo...	OMIM:619603
Cortisone Reductase Deficiency 2	Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature pubarche	OMIM:614662
Robinow Syndrome, Autosomal Recessive 2	Cleft soft palate, Triangular mouth, Gingival overgrowth, Abnormality of the dentition, Long phil...	OMIM:618529
Long-Olsen-Distelmaier Syndrome	Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect	OMIM:620609
Microcephaly 20, Primary, Autosomal Recessive	Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Short stature	OMIM:617914
Combined Oxidative Phosphorylation Deficiency 25	Cerebral atrophy, Ventriculomegaly, Syndactyly	OMIM:616430
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Grange Syndrome	Short palm, Syndactyly	ORPHA:79094
Spondylodysplastic Ehlers-Danlos Syndrome	Short stature, Pulmonary hypoplasia, Hypogonadism, Agenesis of pineal gland	ORPHA:536471
Bohring-Opitz Syndrome	Hypoplasia of the corpus callosum, Deep palmar crease, Dislocated radial head, Dandy-Walker malfo...	OMIM:605039
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Goodpasture Syndrome	Exertional dyspnea, Reticular pattern on pulmonary HRCT, Cyanosis, Hemosiderin-laden macrophages ...	OMIM:233450
Smith-Lemli-Opitz Syndrome	Abnormal lung lobation, Rhizomelia, Short stature, Growth delay, Pulmonary hypoplasia, Intrauteri...	ORPHA:818
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Clinodactyly of the 5th finger, Clubbing of fingers, Microcephaly, Arachnodactyly, Hand clenching...	OMIM:620083
Complete Atrioventricular Septal Defect	Tachypnea, Recurrent pneumonia, Intercostal retractions, Cyanosis	ORPHA:1329
Biotinidase Deficiency	Tachypnea, Apnea	OMIM:253260
14Q22Q23 Microdeletion Syndrome	Bilateral single transverse palmar creases, Short 4th metacarpal, Clinodactyly of the 5th finger,...	ORPHA:264200
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Cerebral atrophy, Hypoplasia of the corpus callosum, Carpal bone hypoplasia, Irregular epiphyses,...	OMIM:610442
Osteoporosis-Pseudoglioma Syndrome	Short stature, Microphthalmia	ORPHA:2788
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl...	ORPHA:3320
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Rocker bottom foot, Hypoplasia of the corpus callosum, Deep palmar crease, Talipes equinovarus, P...	OMIM:301056
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Proximal tubulopathy, Anemia of inadequate pro...	ORPHA:231222
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Portal hypertension, Splenomeg...	ORPHA:465508
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure, Ataxia	ORPHA:1861
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Congenital Disorder Of Glycosylation, Type Iil	Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal cortical gyration, Hydrocephalus, M...	OMIM:614576
Desbuquois Dysplasia 2	Monkey wrench femoral neck, Short clavicles, Single transverse palmar crease, Short long bone, Fl...	OMIM:615777
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly	ORPHA:1114
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo...	ORPHA:166119
Chromosome 2P16.1-P15 Deletion Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Cortical dysplasia, Calcaneovalgus deformity...	OMIM:612513
Mckusick-Kaufman Syndrome	Pulmonary hypoplasia	OMIM:236700
Plaa-Associated Neurodevelopmental Disorder	Hypoplasia of the corpus callosum, Rocker bottom foot, Abnormal cortical gyration, Hyperextensibi...	ORPHA:521426
Fontaine Progeroid Syndrome	Pneumothorax, Death in infancy, Short stature, Neonatal death, Recurrent aspiration pneumonia, Pu...	OMIM:612289
Multiple Benign Circumferential Skin Creases On Limbs	Short stature, Microphthalmia, Edema, Umbilical hernia	ORPHA:2505
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Decreased response to growth hormone stimulation test, Microce...	OMIM:241410
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Hepatomegaly, Gingival overgrowth, Hepatosplenomegaly, Splenomegaly, Long philtrum, R...	OMIM:259720
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Emphysema, Pulmonary carcinoid tumor, Abnormality of the pulmonary artery, ...	ORPHA:363618
Aarskog-Scott Syndrome	Radial deviation of finger, Hyperextensibility of the finger joints, Single transverse palmar cre...	OMIM:305400
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Abnormal circulating corticosterone le...	ORPHA:90796
Roifman-Chitayat Syndrome	Ventriculomegaly, Cone-shaped epiphysis, Short metatarsal, Short metacarpal	OMIM:613328
Intellectual Developmental Disorder, Autosomal Dominant 64	Clinodactyly of the 5th finger, Single transverse palmar crease, Prominent fingertip pads, Microc...	OMIM:619188
Campomelic Dysplasia	Neonatal short-limb short stature, Recurrent lower respiratory tract infections, Disproportionate...	OMIM:114290
Leukodystrophy, Hypomyelinating, 12	Microcephaly, Secondary microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:616683
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple...	OMIM:602450
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Hydrocephalus, Finger syndactyly, Micromelia, Broad thumb, Toe s...	ORPHA:87
Fraser Syndrome 2	Unilateral renal agenesis, Bilateral renal agenesis, Narrow mouth, Aplasia of the bladder, Anal a...	OMIM:617666
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Fryns Syndrome	Chylothorax, Stillbirth, Pulmonary hypoplasia	OMIM:229850
Smooth Muscle Dysfunction Syndrome	Tachypnea, Pulmonary artery dilatation	OMIM:613834
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Ciliary Dyskinesia, Primary, 20	Absent outer dynein arms, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Recurrent ...	OMIM:615067
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty...	ORPHA:3258
16Q24.3 Microdeletion Syndrome	Hypoplasia of the corpus callosum, Proximal placement of thumb, Colpocephaly, Hip dysplasia, Vent...	ORPHA:261250
Fucosidosis	Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly	ORPHA:349
Double Outlet Left Ventricle	Pulmonary artery stenosis, Tachypnea, Cyanosis	ORPHA:3427
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Basel-Vanagaite-Smirin-Yosef Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Single transverse p...	OMIM:616449
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Microcephaly, Broad thumb, Broad hallux, Short ...	OMIM:600987
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Apnea, Congenital hypothyroidism	OMIM:617527
Schilbach-Rott Syndrome	Hypospadias, Narrow mouth, Bifid uvula, Attention deficit hyperactivity disorder, Submucous cleft...	OMIM:164220
Tetraamelia-Multiple Malformations Syndrome	Abnormal lung lobation, Aplasia/Hypoplasia of the lungs	ORPHA:3301
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:2521
Buerger Disease	Livedo reticularis, Acrocyanosis	ORPHA:36258
Tetraamelia Syndrome 2	Hypoplastic pulmonary veins, Bilateral lung agenesis	OMIM:618021
3-Hydroxy-3-Methylglutaric Aciduria	Tachypnea, Apnea	ORPHA:20
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Keppen-Lubinsky Syndrome	Microcephaly, Lateral ventricle dilatation	OMIM:614098
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Respiratory failure, Head titubation, Vestibular areflexia	ORPHA:3240
Schinzel-Giedion Syndrome	Respiratory distress, Central hypothyroidism, Recurrent pneumonia, Pulmonary hypoplasia, Streak o...	ORPHA:798
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly	ORPHA:3386
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Elbow flexion contracture, Porencephalic cyst, Bilateral talipes equinovarus, Decreased palmar cr...	OMIM:612394
Cutis Laxa, Autosomal Dominant 1	Bronchiectasis, Peripheral pulmonary artery stenosis, Emphysema, Dyspnea	OMIM:123700
Holocarboxylase Synthetase Deficiency	Growth delay, Tachypnea, Respiratory distress	ORPHA:79242
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Biotinidase Deficiency	Respiratory distress, Apnea, Hyperventilation	ORPHA:79241
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea	ORPHA:159
Dpm1-Cdg	Cerebral atrophy, Secondary microcephaly, Sandal gap, Hypoplasia of the frontal lobes, Camptodact...	ORPHA:79322
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebral atrophy, Corpus callosum atrophy, Microcephaly, Cerebral cortical atrophy, Ventriculomegaly	OMIM:619272
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal diaphysis morphology, Slender long bone, Clubbing of fingers, Triangular shaped distal p...	ORPHA:73230
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Intrahepatic cholestasis, Increased hepatic glycogen content, Hepatitis, Chronic he...	OMIM:614921
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Tachypnea	OMIM:616501
Houge-Janssens Syndrome 3	Microcephaly, Ventriculomegaly, Single transverse palmar crease, Hypoplasia of the corpus callosum	OMIM:618354
Nocardiosis	Pneumothorax, Abnormality of the adrenal glands, Emphysema, Pleuritis, Respiratory distress, Thyr...	ORPHA:31204
Polysyndactyly With Cardiac Malformation	Duplication of phalanx of hallux, Stillbirth, Syndactyly, Preaxial hand polydactyly	OMIM:263630
Wieacker-Wolff Syndrome, Female-Restricted	Rocker bottom foot, Radial deviation of the hand, Microcephaly, Hip contracture, Ventriculomegaly...	OMIM:301041
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Splenomegaly, Hepatomegaly	OMIM:235555
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Hyperactivity, Submucous cleft hard palate, Bifid uvula	OMIM:619239
Rodrigues Blindness	Short stature, Microphthalmia	OMIM:268320
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Cerebral cortical atrophy, Congenital bilateral hip dislocation, Syndactyly	ORPHA:404451
Intellectual Developmental Disorder, Autosomal Dominant 54	Short stature, Hyperventilation, Apnea, Growth delay	OMIM:617799
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, High palate, Bifid uvula, ...	OMIM:617412
Williams Syndrome	Hypoplasia of penis, Everted lower lip vermilion, Tracheoesophageal fistula, Microdontia, Nephroc...	ORPHA:904
Cerebrocostomandibular Syndrome	Anal stenosis, Ectopic kidney, Cleft soft palate, Short hard palate, Glossoptosis, High palate, R...	OMIM:117650
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular edema, Lymphedema	ORPHA:891
Methemoglobinemia And Ambiguous Genitalia	Cyanosis, Micropenis, Hypospadias, Scrotal hypospadias	OMIM:250790
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Ventriculomegaly, Small pituitary gland	OMIM:614195
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro...	ORPHA:324410
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Silver-Russell Syndrome 1	Decreased response to growth hormone stimulation test, Clinodactyly of the 5th finger, Short midd...	OMIM:180860
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Pelvis-Shoulder Dysplasia	Short stature, Microphthalmia, Spina bifida occulta	OMIM:169550
Pfeiffer Syndrome Type 3	Aqueductal stenosis, Short hallux, Finger syndactyly, Broad thumb, Hallux varus, Broad hallux pha...	ORPHA:93260
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Hypoplasia of the corpus callosum, Polymicrogyria, Ventriculomegaly, Agyria	ORPHA:370997
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers...	OMIM:230800
Infantile Krabbe Disease	Respiratory failure, Opisthotonus, Abnormal circulating enzyme concentration or activity	ORPHA:206436
Aromatic L-Amino Acid Decarboxylase Deficiency	Apnea	OMIM:608643
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly, Postaxial polydactyly	OMIM:219730
Digeorge Syndrome	High, narrow palate, Atelectasis, Unilateral renal agenesis, Renal dysplasia, High palate, Short ...	OMIM:188400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hypoplasia of the corpus callosum, Hydrocephalus, Cerebral calcification, Polymicrogyria, Agyria,...	OMIM:616538
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Warburg Micro Syndrome 3	Secondary microcephaly, Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Polymi...	OMIM:614222
Neu-Laxova Syndrome 1	Intrauterine growth retardation, Stillbirth, Neonatal death, Pulmonary hypoplasia	OMIM:256520
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly, Congenital hip dislocation	OMIM:616355
Beck-Fahrner Syndrome	Microcephaly, Periventricular leukomalacia, Ventriculomegaly, Hip dysplasia	OMIM:618798
Microphthalmia With Brain And Digit Anomalies	Proximal placement of thumb, Finger syndactyly, Microcephaly, Agenesis of corpus callosum, Postax...	ORPHA:139471
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Hypoplasia of the corpus callosum, Broad thumb, Short palm, Abnormal cerebral white matter morpho...	OMIM:614501
Hyperimmunoglobulinemia D With Periodic Fever	Intestinal obstruction, Purpura, Growth delay, Urticaria, Ataxia, Acrocyanosis, Erythema	ORPHA:343
Brain Malformations With Or Without Urinary Tract Defects	Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum	OMIM:613735
Intellectual Developmental Disorder, Autosomal Dominant 58	Falls, Dental crowding, High palate, Protruding tongue, Wide mouth, Thick vermilion border, Submu...	OMIM:618106
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Peripheral pulmonary artery stenosis, Emphysema, Bladder divert...	OMIM:219100
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Broad hallux, Syndactyly...	OMIM:212780
Microphthalmia, Syndromic 5	Short stature, Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610125
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly	OMIM:613027
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Pe...	ORPHA:829
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Microcephaly, Ventriculomegaly, Abnormal basal ganglia MRI signal intensity, Hypoplasia of the co...	ORPHA:431361
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebral atrophy, Neuronal loss in basal ganglia, Basal ganglia gliosis, Focal cortical dysplasia...	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	Polydactyly, Finger syndactyly, Microcephaly, Brachydactyly, Clinodactyly	ORPHA:313781
Birk-Barel Syndrome	Short philtrum, High palate, Bifid uvula, Submucous cleft soft palate, Dysphagia, Tented upper li...	OMIM:612292
Common Variable Immunodeficiency	Emphysema, Recurrent bronchitis, Bronchiectasis, Pneumonia, Recurrent respiratory infections	ORPHA:1572
1P31P32 Microdeletion Syndrome	Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum	ORPHA:401986
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Pontocerebellar Hypoplasia, Type 2E	Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Progressive microcep...	OMIM:615851
Pfeiffer Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Broad thumb, Symph...	ORPHA:710
Steinert Myotonic Dystrophy	Obsessive-compulsive trait, Respiratory failure requiring assisted ventilation, Elevated circulat...	ORPHA:273
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l...	ORPHA:2256
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splenomegaly, ...	OMIM:607765
Bloom Syndrome	Esophageal neoplasm, Cheilitis, Stomach cancer, Bronchitis, Recurrent urinary tract infections, R...	ORPHA:125
ERI1-related disease	Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Oligodactyly, Cu...	OMIM:608739
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole...	ORPHA:131
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal...	OMIM:616084
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Oligohydramnios, Increased nuchal translucency	OMIM:618494
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Acrofrontofacionasal Dysostosis 2	Microcephaly, Broad thumb, Hand polydactyly, Broad hallux, Syndactyly	OMIM:239710
Vacterl/Vater Association	Intrauterine growth retardation, Aplasia/Hypoplasia of the lungs	ORPHA:887
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Ventriculomegaly	OMIM:618314
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Growth delay, Tachypnea	OMIM:614857
Pontocerebellar Hypoplasia, Type 10	Hypoplasia of the corpus callosum, Progressive microcephaly, Reduced cerebral white matter volume...	OMIM:615803
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Hypoxemia, Intraalveolar phospholipid accumulation, Cyanosis	ORPHA:747
Ear-Patella-Short Stature Syndrome	Epispadias, High, narrow palate, Hypospadias, Hypoplasia of penis, Narrow mouth, Bifid uvula, Cle...	ORPHA:2554
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Abnormality of the endocrine system, Aspiration pneumonia, Short stature, Hypoth...	ORPHA:438213
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Biliary tract obstructi...	ORPHA:77259
Isolated Sedoheptulokinase Deficiency	Ventriculomegaly, Steatorrhea, Subcortical cerebral atrophy, Hip dysplasia	ORPHA:440713
Coffin-Lowry Syndrome	Broad finger, Abnormal diaphysis morphology, Narrow iliac wing, Short metacarpal, Microcephaly, C...	ORPHA:192
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Eem Syndrome	Finger syndactyly, Ectrodactyly	ORPHA:1897
Prader-Willi Syndrome	Hypertriglyceridemia, Acromicria, Decreased response to growth hormone stimulation test, Genu val...	OMIM:176270
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Acrocyanosis, Short stature, Growth delay	ORPHA:1867
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Cerebral calcification, Microcephaly, Short palm, Arachnodactyly, Toe syndactyly	ORPHA:73246
Aarskog-Scott Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Single transverse palmar crease, Camptodactyly...	ORPHA:915
Cocaine Intoxication	Pneumothorax, Pulmonary edema, Respiratory distress, Diffuse alveolar hemorrhage, Tachypnea, Hype...	ORPHA:90068
Takenouchi-Kosaki Syndrome	Hypoplasia of the corpus callosum, Proximal placement of thumb, Progressive microcephaly, Tapered...	OMIM:616737
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Hypoplasia of the corpus callosum, Abnormal metaphysis morphology, Clinodactyly of the 5th finger...	ORPHA:2637
Chromosome 17Q12 Duplication Syndrome	Smooth philtrum, Esophageal atresia, Cleft soft palate	OMIM:614526
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat...	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
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Kleefstra Syndrome Due To A Point Mutation	Hypoplasia of the corpus callosum, Microcephaly, Abnormal cerebral white matter morphology, Ventr...	ORPHA:261652
Mitochondrial Dna-Associated Leigh Syndrome	Episodic respiratory distress, Apnea, Dyspnea, Hyperventilation	ORPHA:255210
Relapsing Polychondritis	Purpura, Glomerulopathy, Atelectasis, Hematuria, Proteinuria, Renal insufficiency, Erythema, Ante...	ORPHA:728
Arterial Tortuosity Syndrome	Esophagitis, Median cleft palate, Pulmonary artery stenosis, Pyloric stenosis, Cardiorespiratory ...	ORPHA:3342
Penile Agenesis	Maternal diabetes, Pulmonary hypoplasia, Bilateral lung agenesis	ORPHA:49
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Synaptic Congenital Myasthenic Syndromes	Hypoventilation, Recurrent lower respiratory tract infections, Abnormal synaptic transmission at ...	ORPHA:98915
Congenital Fiber-Type Disproportion Myopathy	Dental crowding, High palate, Aspiration pneumonia, Respiratory insufficiency due to muscle weakn...	ORPHA:2020
Sarcoidosis, Susceptibility To, 1	Abnormal pulmonary interstitial morphology, Emphysema, Dyspnea, Pleural effusion, Elevated bronch...	OMIM:181000
1Q44 Microdeletion Syndrome	Microcephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:238769
Cadds	Ventriculomegaly, Abnormal cerebral white matter morphology	ORPHA:369942
Rere-Related Neurodevelopmental Syndrome	Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation	ORPHA:494344
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Fg Syndrome Type 1	Abnormal thumb morphology, Clinodactyly of the 2nd finger, Small pituitary gland, Hydrocephalus, ...	ORPHA:93932
Meckel Syndrome, Type 1	Intrauterine growth retardation, Adrenal hypoplasia, Pulmonary hypoplasia	OMIM:249000
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Velocardiofacial Syndrome	Pulmonary artery atresia, Velopharyngeal insufficiency, Unilateral primary pulmonary dysgenesis, ...	OMIM:192430
Dpagt1-Cdg	Pulmonary hypoplasia	ORPHA:86309
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Myasthenic Syndrome, Congenital, 21, Presynaptic	Apnea, Cyanosis	OMIM:617239
Short Stature With Microcephaly And Distinctive Facies	Hypoplasia of the corpus callosum, Proximal placement of thumb, Microcephaly, Syndactyly, Brachyd...	OMIM:615789
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hypospadias, Cleft soft palate, Submucous cleft soft palate, Recurrent respiratory infections, Mi...	ORPHA:2282
Congenital Disorder Of Glycosylation, Type Iim	Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:300896
Cree Mental Retardation Syndrome	Hypospadias, Cleft soft palate	OMIM:606851
Mitochondrial Complex I Deficiency, Nuclear Type 9	Hypoventilation, Neonatal death, Lethargy	OMIM:618232
Biliary, Renal, Neurologic, And Skeletal Syndrome	Frontotemporal cerebral atrophy, Aqueductal stenosis, Polydactyly, Hydrocephalus, Anterior pituit...	OMIM:619534
Shashi-Pena Syndrome	Deep palmar crease, Short metacarpal, Reduced cerebral white matter volume, Mild fetal ventriculo...	OMIM:617190
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Cerebral calcification, Frontal ...	OMIM:620024
Neurooculorenal Syndrome	Aqueductal stenosis, Thin corpus callosum, Short 1st metacarpal, Short hallux, Hydrocephalus, Pol...	OMIM:620305
Peho Syndrome	Hydrocephalus, Porencephalic cyst, Microcephaly, Cerebral cortical atrophy, Ventriculomegaly, Tap...	ORPHA:2836
Acquired Methemoglobinemia	Hypoxemia, Cyanosis	ORPHA:464453
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Episodic tachypnea	OMIM:615160
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Periventricular white matter hyperintensities, Clinodactyly of the 5th finger, Bilateral talipes ...	OMIM:620224
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Heart And Brain Malformation Syndrome	Growth delay, Microphthalmia, Polyhydramnios	OMIM:616920
Bencze Syndrome	Submucous cleft hard palate, Open bite	ORPHA:1241
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Apnea	ORPHA:395
Fetal Alcohol Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:1915
Opitz-Kaveggia Syndrome	Radial deviation of finger, Hydrocephalus, Single transverse palmar crease, Prominent fingertip p...	OMIM:305450
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Cerebral calcification, Dandy-Walker malformation, Microcepha...	OMIM:304340
Meier-Gorlin Syndrome 1	Emphysema, Respiratory distress, Death in infancy, Intrauterine growth retardation, Birth length ...	OMIM:224690
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Vesicoureteral reflux, Cholestasis, Leukocytosis, Lymphade...	OMIM:615895
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Postnatal growth retardation, Miscarriage, Short stature, Growth delay, Pulmonary artery stenosis...	ORPHA:96334
Kabuki Syndrome 1	Hydrocephalus, Prominent fingertip pads, Congenital hip dislocation, Microcephaly, Lateral ventri...	OMIM:147920
Joubert Syndrome 37	Short stature, Microphthalmia	OMIM:619185
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Arachnodactyly, Syndactyly, Lateral ventricle dilatation, Adducted thumb, Long toe, Primary micro...	ORPHA:261537
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
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Alg12-Cdg	Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Proximal placement of thumb, S...	ORPHA:79324
Citrullinemia Type I	Tachypnea	ORPHA:247525
Combined D-2- And L-2-Hydroxyglutaric Aciduria	Microcephaly, Ventriculomegaly	OMIM:615182
Williams-Beuren Syndrome	Premature graying of hair, Abnormal renal morphology, Nephrocalcinosis, Urethral stenosis, Intrau...	OMIM:194050
Trichothiodystrophy 3, Photosensitive	Intrauterine growth retardation, Microphthalmia, Short stature	OMIM:616395
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Abnormal fibula morphology, Sandal gap, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1812
Desmosterolosis	Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Micromelia, Microcephaly, Metatarsus a...	ORPHA:35107
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hypoplasia of the corpus callosum, Narrow greater sciatic notch, Limited elbow movement, Acetabul...	ORPHA:508533
Combined Oxidative Phosphorylation Deficiency 14	Cerebral atrophy, Microcephaly, Basal ganglia gliosis, Cerebral cortical atrophy, Diffuse cerebra...	OMIM:614946
Congenital Tracheal Stenosis	Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Respirato...	ORPHA:141127
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate	ORPHA:209908
Solitary Median Maxillary Central Incisor	Short stature, Microphthalmia, Anophthalmia	OMIM:147250
Pitt-Hopkins-Like Syndrome 1	Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy, Attention deficit hyperactivity dis...	OMIM:610042
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Pulmonary Arteriovenous Malformation	Cyanosis, Pleural empyema, Hypoxemia, Epistaxis, Pulmonary hemorrhage, Hemothorax, Telangiectasia	ORPHA:2038
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Cortical dysplasia, Polymicrogyria, Camptodactyly, Bilateral talipes equinovarus, Slender finger,...	OMIM:618343
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Hypoplasia of the corpus callosum, Adducted thumb, Abnormal cortical gyration, Cerebral white mat...	ORPHA:79351
Familial Dysautonomia	Abnormality of the kidney, Glomerulopathy, Gait disturbance, Growth delay, Ataxia, Abnormal pleur...	ORPHA:1764
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Exaggerated cupid's bow, Hydronephrosis, Open mouth, Respiratory failure, Macroglossia	ORPHA:254528
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Carey-Fineman-Ziter Syndrome	Aplasia of the pectoralis major muscle, Cerebral calcification, Microcephaly, Brachydactyly, Ulna...	ORPHA:1358
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Proximal placement of thumb, Microcephaly, Short palm, Syndactyly, Agenesis of corpus callosum, B...	OMIM:217980
Joubert Syndrome 2	Central apnea, Episodic tachypnea	OMIM:608091
Desmosterolosis	Rhizomelia, Hydrocephalus, Bilateral talipes equinovarus, Microcephaly, Ventriculomegaly, Aplasia...	OMIM:602398
Fanconi Anemia, Complementation Group B	Hypoplasia of the corpus callosum, Hydrocephalus, Bilateral radial aplasia, Absent thumb, Ventric...	OMIM:300514
Lymphedema-Distichiasis Syndrome	Microphthalmia, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops f...	OMIM:153400
Q Fever	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Abnormal heart valve morphology, P...	ORPHA:781
3C Syndrome	Abnormal hip bone morphology, Hydrocephalus, Dandy-Walker malformation, Finger syndactyly, Hand p...	ORPHA:7
Rh Deficiency Syndrome	Intrauterine growth retardation, Hypoxemia, Tachypnea, Miscarriage	ORPHA:71275
Microphthalmia/Coloboma 12	Growth delay, Microphthalmia, Optic nerve aplasia	OMIM:120200
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft palate, Cleft soft palate	ORPHA:2736
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Cerebral atrophy, Single transverse palmar crease, Prominent fingertip pads, Microcephaly, Broad ...	OMIM:617804
Loeys-Dietz Syndrome 5	Cleft soft palate, High palate, Eosinophilic infiltration of the esophagus, Bifid uvula, Cleft pa...	OMIM:615582
Granulomatous Disease, Chronic, X-Linked	Air bronchogram, Atelectasis, Rectal abscess, Pleural effusion, Recurrent pneumonia	OMIM:306400
Schwartz-Jampel Syndrome	Short stature, Apnea, Death in infancy	ORPHA:800
Meier-Gorlin Syndrome 6	Delayed puberty, Decreased response to growth hormone stimulation test, Emphysema, Severe short s...	OMIM:616835
Histiocytoid Cardiomyopathy	Pulmonary edema, Tachypnea, Cyanosis	ORPHA:137675
Galloway-Mowat Syndrome 3	Cerebral atrophy, Hypoplasia of the corpus callosum, Camptodactyly, Microcephaly, Arachnodactyly,...	OMIM:617729
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Polycystic kidney dysplasia...	ORPHA:84064
Codas Syndrome	Hypoplasia of the corpus callosum, Genu valgum, Proximal placement of thumb, Delayed ossification...	OMIM:600373
Intellectual Disability-Alacrima-Achalasia Syndrome	Ventriculomegaly	ORPHA:289483
Intellectual Developmental Disorder, Autosomal Dominant 57	Tip-toe gait, High palate, Compulsive behaviors, Frequent temper tantrums, Short stature, Promine...	OMIM:618050
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Toriello-Carey Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Dandy-Walker malformation, Abnormal corpus c...	ORPHA:3338
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Garg-Mishra Progeroid Syndrome	Short stature, Microphthalmia, Postnatal growth retardation	OMIM:620601
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Hypodontia, High, narrow palate, Submucous cleft hard palate, Glossoptosis	ORPHA:3201
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Hydrocephalus, Postaxial polyd...	ORPHA:457284
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Hypoplasia of the corpus callosum, Abnormal cortical gyration, Small hand, Dandy-Walker malformat...	OMIM:300968
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence	OMIM:192445
Pseudo-Torch Syndrome 1	Cerebral calcification, Polymicrogyria, Microcephaly, Pachygyria, Lissencephaly, Ventriculomegaly	OMIM:251290
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Polymicrogyria, Abnormal corpus callosum morphology, Megalencephaly, Ventriculomegaly	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
46,Xy Sex Reversal 5	Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating...	OMIM:613080
Multiple Epiphyseal Dysplasia, Lowry Type	Cleft hard palate	ORPHA:166016
Ellis Van Creveld Syndrome	Intrauterine growth retardation, Emphysema, Aplasia/Hypoplasia of the lungs, Neonatal short-limb ...	ORPHA:289
Native American Myopathy	Inability to walk, Respiratory insufficiency, High palate, Downturned corners of mouth, Cleft pal...	ORPHA:168572
Joubert Syndrome 1	Central apnea, Episodic tachypnea	OMIM:213300
Osteogenesis Imperfecta	Rhizomelia, Short stature, Growth delay, Pulmonary hypoplasia, Intrauterine growth retardation	ORPHA:666
Restrictive Dermopathy	Intrauterine growth retardation, Pulmonary hypoplasia, Congenital adrenal hypoplasia	ORPHA:1662
Meacham Syndrome	Abnormal lung lobation, Pulmonary sequestration, Anomalous pulmonary venous return, Aplasia/Hypop...	ORPHA:3097
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebral atrophy, Hypoplasia of the corpus callosum, 2-5 finger syndactyly, Polymicrogyria, Corti...	ORPHA:468631
Shprintzen-Goldberg Syndrome	Apnea	ORPHA:2462
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu...	OMIM:610489
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Growth delay, Microphthalmia, Anophthalmia	ORPHA:77298
2Q37 Microdeletion Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Finger syndactyly, Sh...	ORPHA:1001
Sepsis In Premature Infants	Purpura, Jaundice, Reversible renal failure, Petechiae, Enterocolitis, Oliguria, Cyanosis	ORPHA:90051
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Increased ratio of deoxypyr...	OMIM:225400
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Camptodactyly	OMIM:616006
Fanconi Anemia, Complementation Group S	Short stature, Microphthalmia	OMIM:617883
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Glycogen Storage Disease Ii	Cardiomegaly, Hepatomegaly, Urinary incontinence, Splenomegaly	OMIM:232300
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Respiratory tract infection, Ataxia, Pneumoni...	ORPHA:79138
Combined Oxidative Phosphorylation Defect Type 23	Respiratory failure	ORPHA:444013
Dubowitz Syndrome	Hypospadias, Delayed eruption of teeth, Hyperactivity, High palate, Submucous cleft hard palate, ...	OMIM:223370
Lethal Acantholytic Erosive Disorder	Respiratory failure, Cleft palate, Natal tooth	ORPHA:158687
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Arachnodactyly, Syndactyly, Lateral ventricle dilatation, Adducted thumb, Long toe, Primary micro...	ORPHA:261552
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Syndactyly	OMIM:619736
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
Spastic Paraplegia 51, Autosomal Recessive	Microcephaly, Ventriculomegaly, Cerebral cortical atrophy, Talipes equinovarus	OMIM:613744
Kury-Isidor Syndrome	Rocker bottom foot, Proximal placement of thumb, Finger syndactyly, Brachydactyly, Hip dysplasia,...	OMIM:619762
Triploidy	Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Finger syndactyly	ORPHA:3376
Kyphoscoliotic Ehlers-Danlos Syndrome	Difficulty walking, Abnormal nasal bridge morphology, High palate, Fragile skin, Short stature, B...	ORPHA:536545
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Cerebral white matter hypoplas...	ORPHA:477993
Orofaciodigital Syndrome I	Cerebral atrophy, Polydactyly, Abnormal cortical gyration, Radial deviation of finger, Hydrocepha...	OMIM:311200
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Mucopolysaccharidosis, Type Ix	Submucous cleft hard palate, Bifid uvula	OMIM:601492
Autosomal Dominant Cutis Laxa	Postnatal growth retardation, Emphysema, Premature skin wrinkling, Unilateral renal agenesis, Pye...	ORPHA:90348
Tetanus	Tachypnea, Respiratory distress	ORPHA:3299
16P13.11 Microdeletion Syndrome	Microcephaly, Camptodactyly of finger, Agenesis of corpus callosum, Metatarsus valgus, Ventriculo...	ORPHA:261236
Kbg Syndrome	Microcephaly, Single transverse palmar crease, Cutaneous syndactyly, Finger clinodactyly	ORPHA:2332
Cog8-Cdg	Progressive microcephaly, Ventriculomegaly	ORPHA:95428
Cardiac-Urogenital Syndrome	Scimitar anomaly, Pulmonary hypoplasia, Partial anomalous pulmonary venous return	OMIM:618280
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Supernumerary tooth, Widely spaced teeth, Hypospadias, Cleft soft palate, Broad-based gait, Unila...	ORPHA:268261
Bartsocas-Papas Syndrome	Finger syndactyly, Microcephaly, Aplasia/Hypoplasia of the distal phalanges of the toes, Absent t...	ORPHA:1234
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Fetal megacystis, Microcolon, Neonatal death, Hydronephrosis	OMIM:619362
Osteopathia Striata With Cranial Sclerosis	Short stature, Apnea	OMIM:300373
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Epiphyseal stippling, Dandy-Walker malformation, Stippled calcification in carpal bon...	OMIM:302960
Kaufman Oculocerebrofacial Syndrome	Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Single transverse palmar creas...	OMIM:244450
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Abnormality of the hand, Clinodactyly, Syndactyly, Camptodactyly	ORPHA:369891
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiom...	OMIM:130650
Gaucher Disease Type 3	Hepatomegaly, Anemia, Hematuria, Pancytopenia, Abnormal heart valve morphology, Aortic valve calc...	ORPHA:77261
N-Acetylglutamate Synthase Deficiency	Tachypnea, Respiratory distress	OMIM:237310
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu...	OMIM:274000
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis	OMIM:208000
Fetal Cytomegalovirus Syndrome	Microcephaly, Cerebral calcification, Ventriculomegaly	ORPHA:294
Stüve-Wiedemann Syndrome	Respiratory distress, Short stature, Hypothyroidism, Apnea, Intrauterine growth retardation, Ecto...	ORPHA:3206
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Clinodactyly of the 5th finger, Ectrodactyly, Syndactyly, Short 5th finger	ORPHA:397590
Marden-Walker Syndrome	Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm...	ORPHA:2461
Acute Bilirubin Encephalopathy	Central apnea	ORPHA:529799
Chronic Bilirubin Encephalopathy	Central apnea	ORPHA:529808
Craniofaciofrontodigital Syndrome	Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus...	ORPHA:363705
Frontofacionasal Dysplasia	Short stature, Microphthalmia, Encephalocele	ORPHA:1791
Fabry Disease	Delayed puberty, Emphysema, Diabetes insipidus, Hyperlipidemia, Dyspnea, Short stature	ORPHA:324
Duane-Radial Ray Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Tr...	OMIM:607323
Combined Oxidative Phosphorylation Deficiency 39	Cerebral atrophy, Microcephaly, Simplified gyral pattern, Pachygyria, Ventriculomegaly	OMIM:618397
Ogden Syndrome	Cerebral atrophy, Ventriculomegaly, Broad hallux	ORPHA:276432
Rubinstein-Taybi Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Microcephaly, Abnormal distal phalanx morpholo...	ORPHA:783
Apparent Mineralocorticoid Excess	Decreased circulating renin level, Short stature, Decreased circulating aldosterone level, Abnorm...	ORPHA:320
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, Camptodactyly, Microcephaly, Tapered finger	ORPHA:435938
Congenital Disorder Of Glycosylation, Type If	Microcephaly, Ventriculomegaly, Cerebral atrophy	OMIM:609180
Occipital Horn Syndrome	High palate, Growth delay, Ureteral obstruction, Hydronephrosis, Bruising susceptibility, Bladder...	OMIM:304150
Fanconi Anemia, Complementation Group R	Growth delay, Microphthalmia	OMIM:617244
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Urinary incontinence, Cardiomyopathy	OMIM:105210
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Proximal placement of thumb, Aplasia of the 1st metacarpa...	OMIM:142900
Choreoacanthocytosis	Abnormal putamen morphology, Frontal cortical atrophy, Cerebral cortical atrophy, Small basal gan...	ORPHA:2388
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Abnormality of the hand, Clinoda...	ORPHA:508498
Warburg Micro Syndrome 4	Short stature, Microphthalmia, Severe postnatal growth retardation	OMIM:615663
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Bruising susceptibility, Bladder diverticulum, Fragile skin	OMIM:617821
Genitourinary And/Or Brain Malformation Syndrome	Secondary microcephaly, Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Syndactyly, Age...	OMIM:618820
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Campomelic Dysplasia	Fibular hypoplasia, Tibial bowing, Femoral bowing, Short long bone, Bowing of the long bones, Hyp...	ORPHA:140
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Microcephaly, Shor...	ORPHA:1005
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Microcephaly, Ventriculomegaly, Broad hallux, Shortening of all distal phalanges of the fingers	OMIM:614749
Aortic Arch Interruption	Exertional dyspnea, Respiratory distress, Aortopulmonary window, Tachypnea, Cyanosis	ORPHA:2299
Microphthalmia With Limb Anomalies	Growth delay, Microphthalmia, Postnatal growth retardation, Anophthalmia	OMIM:206920
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo...	OMIM:276700
Kleefstra Syndrome Due To 9Q34 Microdeletion	Subcortical cerebral atrophy, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosu...	ORPHA:96147
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood, Patent urachus	OMIM:618252
Wolfram Syndrome	Delayed puberty, Male hypogonadism, Diabetes insipidus, Hypogonadism, Diabetes mellitus, Central ...	ORPHA:3463
Filippi Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Clinodactyly of the 5th ...	ORPHA:3255
Combined Oxidative Phosphorylation Deficiency 53	Secondary microcephaly, Dysplastic corpus callosum	OMIM:619423
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card...	OMIM:300257
Fraser Syndrome 1	Pulmonary hypoplasia, Abnormal thymus morphology	OMIM:219000
Arthrogryposis, Distal, Type 3	Submucous cleft hard palate, Bifid uvula, High palate, Cleft palate	OMIM:114300
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Polymicrogyria, Pachygyria	ORPHA:2328
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly	OMIM:226700
Maternal Uniparental Disomy Of Chromosome 6	Ventriculomegaly, Slender long bone	ORPHA:96181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Pigmented Nodular Adrenocortical Disease, Primary, 2	Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical disease, Paradoxi...	OMIM:610475
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Pulmonic stenosis, Hydronep...	OMIM:612541
Tetrasomy 9P	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:3310
Fanconi Anemia, Complementation Group F	Intrauterine growth retardation, Microphthalmia, Polyhydramnios, Short stature	OMIM:603467
Occipital Horn Syndrome	High, narrow palate, Jaundice, Recurrent urinary tract infections, Esophagitis, Dysphagia, Bladde...	ORPHA:198
Pseudoleprechaunism Syndrome, Patterson Type	Prominent nose, Palmoplantar cutis laxa, Bladder diverticulum	ORPHA:2976
Cri-Du-Chat Syndrome	Short metatarsal, Single transverse palmar crease, High axial triradius, Short metacarpal, Microc...	OMIM:123450
Neurocutaneous Melanocytosis	Ventriculomegaly, Dandy-Walker malformation	ORPHA:2481
Femoral-Facial Syndrome	Limited elbow movement, Aplasia/hypoplasia of the femur, Hypoplastic acetabulae, Short fifth meta...	OMIM:134780
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Cleft hard palate, Delayed eruption of teeth, Hypercalciuria, Dental crowding, Narrow mouth, Bifi...	OMIM:300990
Micro Syndrome	Delayed puberty, Microphthalmia, Intrauterine growth retardation, Short stature	ORPHA:2510
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular...	OMIM:232220
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1352
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Loeys-Dietz Syndrome 4	Pneumothorax, Emphysema	OMIM:614816
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Short stature, Microphthalmia	OMIM:617306
Galloway-Mowat Syndrome 1	Secondary microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Dandy-Walker malform...	OMIM:251300
Fucosidosis	Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosaccharid...	OMIM:230000
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cubitus valgus, Epiphyseal stippling, Polymicrogyria, Single transverse palmar crease, Camptodact...	OMIM:614866
Fraser Syndrome	Abnormal lung lobation, Pulmonary hypoplasia, Death in infancy	ORPHA:2052
Molybdenum Cofactor Deficiency, Complementation Group B	Cerebral atrophy, Hypoplasia of the corpus callosum, Thin corpus callosum, Microcephaly, Diffuse ...	OMIM:252160
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Megalencephaly, Hydrocephalus, Microcephaly, Ventriculomegaly, Tapered finger, Talipes equinovarus	OMIM:613603
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Attention deficit hyperactivity disorder, Urinary incontinence, Motor stereotypy, Hyperventilation	ORPHA:98784
Marshall-Smith Syndrome	Ventriculomegaly, Bowing of the long bones, Slender long bone	ORPHA:561
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Combined Oxidative Phosphorylation Deficiency 12	Hypoplasia of the corpus callosum, Leukoencephalopathy, Agenesis of corpus callosum, Dysplastic c...	OMIM:614924
Structural Heart Defects And Renal Anomalies Syndrome	Renal cyst, Death in infancy, Partial anomalous pulmonary venous return, Cyanosis, Renal insuffic...	OMIM:617478
Acrocardiofacial Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Split hand, Cerebral cortical atrophy, Split f...	ORPHA:2008
Mosaic Trisomy 9	Microphthalmia, Hydrops fetalis, Polyhydramnios, Spina bifida, Intrauterine growth retardation, O...	ORPHA:99776
Frontonasal Dysplasia 2	Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Encephalocele	OMIM:613451
Yunis-Varon Syndrome	Rocker bottom foot, Abnormal finger morphology, Aplasia of the 1st metacarpal, Slender long bones...	ORPHA:3472
Tbck-Related Intellectual Disability Syndrome	Hypoplasia of the corpus callosum, Broad finger, Decreased response to growth hormone stimulation...	ORPHA:488632
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Abnormal cerebral white matter...	OMIM:615471
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Cubitus valgus, Syndactyly, Congenital hip dislocation	OMIM:104350
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Nasopalpebral Lipoma-Coloboma Syndrome	Severe postnatal growth retardation, Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Hypospadias, Broad-based gait, Dysdiadochokinesis, Compulsive behaviors, Chordee, Dystonia, Atten...	OMIM:618891
D-Bifunctional Protein Deficiency	Hypoplasia of the corpus callosum, Cerebral dysmyelination, Hammertoe, Polymicrogyria, Cortical d...	OMIM:261515
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Secondary microcephaly, Thin corpus callosum, Cavum septum pellucidum, Syndactyly, Brachydactyly,...	OMIM:620654
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Unilateral renal agenesis, Tracheoesophageal fistula, Renal agenesis, Attenti...	OMIM:619227
Khan-Khan-Katsanis Syndrome	Microcephaly, Postaxial polydactyly, Colpocephaly, Ventriculomegaly, Clinodactyly	OMIM:618460
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Single transverse palmar crease, Micromelia, Broad hallux, Syndactyly, Brachydactyly	OMIM:614800
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Bilateral microphthalmos, Short stature	OMIM:610758
Tatton-Brown-Rahman Syndrome	Ventriculomegaly, Widely spaced toes, Short toe	ORPHA:404443
Luscan-Lumish Syndrome	Ventriculomegaly, Advanced ossification of carpal bones	OMIM:616831
Postpoliomyelitis Syndrome	Hypoventilation, Dysphagia	ORPHA:2942
Mpdu1-Cdg	Ventriculomegaly, Decreased response to growth hormone stimulation test	ORPHA:79323
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Abnormal thumb morphology, Radial club hand, Triphalangeal thumb, Sandal ...	ORPHA:959
Silver-Russell Syndrome 3	Clinodactyly of the 5th finger, Syndactyly, Small hand	OMIM:616489
Seckel Syndrome 9	Microcephaly, Ventriculomegaly, Simplified gyral pattern, Talipes equinovarus	OMIM:616777
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Gm1-Gangliosidosis, Type Ii	Cerebral atrophy, Ventriculomegaly, Limb undergrowth, Coxa valga	OMIM:230600
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly	OMIM:612918
Slc39A8-Cdg	Short stature, Sudden episodic apnea, Disproportionate short-limb short stature	ORPHA:468699
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc...	OMIM:610199
Hoyeraal-Hreidarsson Syndrome	Microcephaly, Cerebral calcification, Ventriculomegaly, Cerebral cortical atrophy	ORPHA:3322
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Tarp Syndrome	Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Single transverse palmar crease...	OMIM:311900
Acrofacial Dysostosis, Catania Type	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Finger syndactyly, Mi...	ORPHA:1786
Roberts Syndrome	Bilateral single transverse palmar creases, Hypoplasia of the radius, Radial deviation of finger,...	ORPHA:3103
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Single transverse palmar crease, Microcephaly, Colpocephaly, Agenesis of corpus ca...	OMIM:309801
Spondylometaphyseal Dysplasia, Schmidt Type	Cleft soft palate	ORPHA:93316
Robinow Syndrome, Autosomal Recessive 1	Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head, Broad thumb, Mesome...	OMIM:268310
Myhre Syndrome	Epispadias, Thin vermilion border, Gingival cleft, Hypospadias, Abnormal penis morphology, Narrow...	ORPHA:2588
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Ventriculomegaly, Clinodactyly of the 5th finger	ORPHA:2031
Myasthenia Gravis	Glycosuria, Dysphagia, Acrocyanosis	ORPHA:589
Myhre Syndrome	Short philtrum, Respiratory insufficiency, Narrow mouth, Cleft palate, Ataxia, Respiratory failur...	OMIM:139210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hydrocephalus, Type II lissencephaly, Microcephaly, Pachygyria, Agenesis of corpus callosum, Vent...	OMIM:613150
Joubert Syndrome 14	Growth delay, Microphthalmia, Encephalocele, Meningocele	OMIM:614424
Cardiofaciocutaneous Syndrome 1	Tongue thrusting, Open bite, High palate, Abnormality of the dentition, Submucous cleft hard pala...	OMIM:115150
Mitochondrial Phosphate Carrier Deficiency	Cyanosis	OMIM:610773
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Waddling gait, Bladder diverticulum, Cleft soft palate	OMIM:614557
Holoprosencephaly 14	Aqueductal stenosis, Subependymal cysts, Hydrocephalus, Dandy-Walker malformation, Microcephaly, ...	OMIM:619895
19Q13.11 Microdeletion Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Congenital hip dislocation, Microcephaly, Toe ...	ORPHA:217346
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly	OMIM:605231
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Pollakisuria, Right ventricular hypertrophy	ORPHA:268
Orofaciodigital Syndrome Type 10	Long philtrum, Accessory oral frenulum, Cleft soft palate	ORPHA:2756
Fumarase Deficiency	Cerebral atrophy, Polymicrogyria, Choroid plexus cyst, Open operculum, Microcephaly, Agenesis of ...	OMIM:606812
Branchioskeletogenital Syndrome	Thin vermilion border, Penoscrotal hypospadias, Short philtrum, Rootless teeth, Premature loss of...	ORPHA:1299
Sifrim-Hitz-Weiss Syndrome	Short clavicles, Flat acetabular roof, Short femoral neck, Ventriculomegaly, Tapered finger	OMIM:617159
6Q Terminal Deletion Syndrome	Hypoplasia of the corpus callosum, Polymicrogyria, Colpocephaly, Abnormal cerebral white matter m...	ORPHA:75857
Mosaic Variegated Aneuploidy Syndrome 1	Hydrocephalus, Dandy-Walker malformation, Cerebral hypoplasia, Microcephaly, Hypodysplasia of the...	OMIM:257300
Peripartum Cardiomyopathy	Respiratory failure	ORPHA:563
Blepharocheilodontic Syndrome 1	Cutaneous syndactyly, Clinodactyly	OMIM:119580
Orofaciodigital Syndrome Type 2	Short stature, Tachypnea, Apnea	ORPHA:2751
Mucopolysaccharidosis Type 3	Hepatomegaly, Abnormal aortic valve morphology, Recurrent tonsillitis, Mucopolysacchariduria, Abn...	ORPHA:581
Stickler Syndrome, Type I	Submucous cleft hard palate, Bifid uvula, Pierre-Robin sequence, Cleft palate	OMIM:108300
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
White Forelock With Malformations	Finger syndactyly, Clinodactyly of the 5th finger	ORPHA:2475
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Central apnea, Hyperventilation	ORPHA:522077
Combined Oxidative Phosphorylation Deficiency 55	Thin corpus callosum, Talipes equinovarus, Single transverse palmar crease, Microcephaly, Ventric...	OMIM:619743
Hydranencephaly	Atrophic pituitary gland, Cerebral cortical atrophy, Dysgenesis of the thalamus, Abnormal corpus ...	ORPHA:2177
Lenz-Majewski Hyperostotic Dwarfism	Abnormal metaphysis morphology, Abnormal metacarpal morphology, Hydrocephalus, Finger syndactyly,...	ORPHA:2658
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Tukel Syndrome	Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia	OMIM:609428
Isolated Biliary Atresia	Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr...	ORPHA:30391
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Hypospadias, Cleft soft palate, Horseshoe kidney,...	ORPHA:124
Oculodentodigital Dysplasia	Abnormal metaphysis morphology, Palmoplantar keratoderma, Clinodactyly of the 5th finger, Abnorma...	ORPHA:2710
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, Delayed eruption of teeth, Bifid uvula, Cleft palate, Submucous cleft hard p...	ORPHA:2780
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Renal hypoplasia, Submucous cleft hard palate, Bifid uvula, Vesicoureteral reflux	OMIM:617660
Witteveen-Kolk Syndrome	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Decreased response to growth hormo...	OMIM:613406
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hyperlipidemia, Prima...	ORPHA:189427
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Hand polydactyly, Syndactyly, Finger aplasia	OMIM:149000
Fraser Syndrome 3	Hydrocephalus, Stillbirth, Cutaneous syndactyly, Short toe	OMIM:617667
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Costello Syndrome	Pneumothorax, Thick lower lip vermilion, Respiratory insufficiency, High palate, Pyloric stenosis...	OMIM:218040
W Syndrome	Broad uvula, Submucous cleft hard palate, Upper lip pit, Agenesis of maxillary central incisor	ORPHA:2804
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Megalencephaly, Communicating hydrocephalus, Cerebral cortical atrophy, Arachnodactyly, Large han...	OMIM:617011
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Sanjad-Sakati Syndrome	Microcephaly, Ventriculomegaly, Short foot, Small hand	ORPHA:2323
Bifid Uvula	Cleft lip, Bifid uvula, Submucous cleft soft palate	ORPHA:99771
Linear Nevus Sebaceus Syndrome	Cerebral calcification, Dandy-Walker malformation, Porencephalic cyst, Ventriculomegaly, Aplasia/...	ORPHA:2612
Childhood Absence Epilepsy	Attention deficit hyperactivity disorder, Urinary incontinence, Punding, Hyperventilation	ORPHA:64280
Bilateral Polymicrogyria	Aplasia/Hypoplasia of the cerebral white matter, Perisylvian polymicrogyria, 4-layered lissenceph...	ORPHA:268940
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly	ORPHA:1514
Hyperparathyroidism, Neonatal Severe	Tachypnea, Dyspnea, Elevated circulating parathyroid hormone level, Primary hyperparathyroidism	OMIM:239200
Neonatal Marfan Syndrome	Hypoxemia, Emphysema	ORPHA:284979
Ectodermal Dysplasia-Blindness Syndrome	Short stature, Microphthalmia	ORPHA:1806
Zttk Syndrome	Thin vermilion border, Polyuria, Intestinal atresia, Short philtrum, Unilateral renal agenesis, H...	OMIM:617140
Focal Dermal Hypoplasia	Abnormality of the pulmonary vasculature, Aplasia/Hypoplasia of the lungs	ORPHA:2092
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Increased B cell count, Cholestasis, Increased T cell count, Leuk...	OMIM:620376
Keutel Syndrome	Emphysema, Recurrent bronchitis, Miscarriage, Pulmonary artery hypoplasia, Peripheral pulmonary a...	OMIM:245150
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Bifid uvula, Clef...	ORPHA:2636
Adams-Oliver Syndrome 1	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Polymicrogyria, Cortical dysplas...	OMIM:100300
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Dubowitz Syndrome	Rectal prolapse, Anal stenosis, Hypospadias, Delayed eruption of teeth, Respiratory insufficiency...	ORPHA:235
Ritscher-Schinzel Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:619135
Hutchinson-Gilford Progeria Syndrome	Generalized abnormality of skin, Abnormal nasal tip morphology, Premature skin wrinkling, Delayed...	ORPHA:740
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Microphthalmia	OMIM:234050
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Dyrk1A-Related Intellectual Disability Syndrome	Hypoplasia of the corpus callosum, Polydactyly, Clinodactyly of the 5th finger, Acromesomelia, An...	ORPHA:464306
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted lower lip vermilion, High palate, E...	OMIM:608670
Cohen Syndrome	Genu valgum, Cubitus valgus, Abnormal hip bone morphology, Sandal gap, Clinodactyly of the 5th fi...	ORPHA:193
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly	ORPHA:1997
Beare-Stevenson Cutis Gyrata Syndrome	Limited elbow extension, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Overlappin...	OMIM:123790
Developmental And Epileptic Encephalopathy 2	Anteverted nares, Inability to walk, Motor stereotypy, Hyperventilation	OMIM:300672
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Growth delay, Abnormal renal physiology, Acrocyanosis, Recurrent infections...	OMIM:223900
Heterotaxy, Visceral, 7, Autosomal	Pulmonary artery atresia, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, I...	OMIM:616749
Distal Deletion 6P	Clinodactyly of the 5th finger, Short palm, Abnormal epiphysis morphology, Ventriculomegaly, Shor...	ORPHA:96125
8Q22.1 Microdeletion Syndrome	Long philtrum, Submucous cleft hard palate, Abnormality of the dentition	ORPHA:178303
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Anencephaly, Hydrocephalus, Cortical dysplasia, Type II lissencephaly, Dandy-Walker malformation,...	OMIM:615287
Kapur-Toriello Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:244300
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Edema, Ol...	OMIM:609049
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Jacobsen Syndrome	Cerebral atrophy, Finger syndactyly, Toe clinodactyly, Hand polydactyly, Toe syndactyly, Long hal...	ORPHA:2308
Mowat-Wilson Syndrome	Urinary incontinence, Dental crowding, Everted lower lip vermilion, Bifid uvula, Ataxia, Dysphagi...	ORPHA:2152
Genitopatellar Syndrome	Hypothyroidism, Pulmonary hypoplasia	OMIM:606170
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Widely spaced teeth, Delayed eruption of teeth, Conical tooth, Abnormal dental enamel morphology,...	ORPHA:1071
Ring Chromosome 12 Syndrome	Abnormal 5th finger morphology, Microcephaly, Symphalangism of the thumb, Syndactyly, Clinodactyly	ORPHA:1439
Vertebral Hypersegmentation And Orofacial Anomalies	Submucous cleft hard palate, Unilateral cleft lip, Unilateral cleft palate	OMIM:619122
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Pulmonary hypoplasia, Disproportionate short-limb short stature	ORPHA:93271
Oculo-Palato-Cerebral Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:2714
X-Linked Dominant Chondrodysplasia Punctata	Short stature, Microphthalmia, Severe postnatal growth retardation	ORPHA:35173
Ehlers-Danlos Syndrome, Vascular Type	Pneumothorax, Emphysema, Pulmonary bulla, Repeated pneumothoraces, Spontaneous pneumothorax, Shor...	OMIM:130050
Orofaciodigital Syndrome Type 1	Tarsal synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Dandy-Walker malformation, ...	ORPHA:2750
Liver Disease, Severe Congenital	Left atrial enlargement, Lymphocytosis, Ascites, Biliary hyperplasia, Leukopenia, Splenomegaly, C...	OMIM:619991
Acquired Purpura Fulminans	Macular purpura, Acrocyanosis	ORPHA:49566
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Cerebral atrophy, Radial deviation of finger, Sandal gap, Microcephaly, Long hallux, Syndactyly, ...	OMIM:618164
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Multiple Pterygium-Malignant Hyperthermia Syndrome	Talipes equinovarus, Finger syndactyly, Hemiatrophy, Metatarsus adductus, Arachnodactyly, Camptod...	ORPHA:2215
Papillorenal Syndrome	Short stature, Microphthalmia, Edema	OMIM:120330
Larsen Syndrome	Broad distal phalanx of finger, Finger syndactyly, Abnormal epiphysis morphology, Broad thumb, Br...	ORPHA:503
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Synostosis of carpal bones, Abnormal hip bone morphology	ORPHA:1323
Frontorhiny	Cranium bifidum occultum, Microphthalmia, Basal encephalocele, Encephalocele	ORPHA:391474
Menkes Disease	Intrauterine growth retardation, Spontaneous hematomas, Bladder diverticulum, Prolonged neonatal ...	ORPHA:565
Hyperparathyroidism, Transient Neonatal	Short long bone, Femoral bowing, Metaphyseal spurs, Fractured rib, Communicating hydrocephalus, V...	OMIM:618188
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Agyria, ...	OMIM:236670
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short stature, Microphthalmia	OMIM:618571
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hypoplasia of the corpus callosum, Rhizomelia, Short metatarsal, Clinodactyly of the 2nd finger, ...	OMIM:266920
Cerebellar-Facial-Dental Syndrome	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Slender long bone, Single transv...	ORPHA:444072
Sarcoidosis	Pneumothorax, Abnormality of the adrenal glands, Emphysema, Diabetes insipidus, Chylothorax, Abno...	ORPHA:797
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Intrauterine growth retardation, Microphthalmia, Oligohydramnios	ORPHA:364577
Postinfectious Vasculitis	Anorexia, Palpable purpura, Hematuria, Vasculitis in the skin, Recurrent streptococcus pneumoniae...	ORPHA:48435
Microphthalmia, Lenz Type	Abnormal shoulder morphology, Clinodactyly of the 5th finger, Finger syndactyly, Microcephaly, Ca...	ORPHA:568
Kinsship Syndrome	Polydactyly, Fibular hypoplasia, Dislocated radial head, Dandy-Walker malformation, Single transv...	OMIM:619297
Holocarboxylase Synthetase Deficiency	Tachypnea, Hyperventilation	OMIM:253270
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,...	OMIM:245600
Xeroderma Pigmentosum, Complementation Group B	Microcephaly, Ventriculomegaly, Basal ganglia calcification	OMIM:610651
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Acrocallosal Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Postaxial hand polydactyly, Tapered finger, Du...	OMIM:200990
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Mucopolysacchariduria, Splenomegaly, ...	OMIM:252500
Trisomy 18	Microphthalmia, Anencephaly, Spina bifida, Short stature, Growth delay, Intrauterine growth retar...	ORPHA:3380
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Intellectual Developmental Disorder, X-Linked, Syndromic 34	High, narrow palate, Widely spaced teeth, Short philtrum, Dental crowding, Tremor, Narrow mouth, ...	OMIM:300967
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple...	ORPHA:567983
Cerebrooculonasal Syndrome	Hypoplasia of the corpus callosum, Hydrocephalus, Dandy-Walker malformation, Postaxial hand polyd...	OMIM:605627
Viss Syndrome	Pneumothorax, Pulmonary artery aneurysm, High, narrow palate, Emphysema, Cleft soft palate, Chron...	OMIM:619472
Warburg Micro Syndrome 2	Postnatal growth retardation, Microphthalmia	OMIM:614225
Pallister-Killian Syndrome	Stillbirth, Rhizomelia, Mesomelic/rhizomelic limb shortening, Growth delay, Pulmonary hypoplasia,...	OMIM:601803
Scorpion Envenomation	Pulmonary edema, Tachypnea	ORPHA:466677
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypoplasia of the corpus callosum, Proximal placement of thumb, Dandy-Walker malformation, Tapere...	ORPHA:487796
Moebius Syndrome	Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the...	ORPHA:570
Vascular Ehlers-Danlos Syndrome	Pneumothorax, Thin vermilion border, Pulmonary artery aneurysm, High, narrow palate, Hypospadias,...	ORPHA:286
Aymé-Gripp Syndrome	Hypoplasia of the corpus callosum, Rocker bottom foot, Clinodactyly of the 5th finger, Hydrocepha...	ORPHA:1272
Dermatomyositis	Abnormal pulmonary interstitial morphology, Facial erythema, V-sign, Cutaneous photosensitivity, ...	ORPHA:221
Refsum Disease	Microphthalmia	ORPHA:773
Blepharonasofacial Malformation Syndrome	Finger syndactyly	ORPHA:1252
Teebi-Shaltout Syndrome	Rocker bottom foot, Caudal appendage, Single transverse palmar crease, Camptodactyly, Microcephal...	OMIM:272950
X Small Rings	Clinodactyly of the 5th finger, Upper limb undergrowth, 2-3 toe syndactyly, Lower limb undergrowt...	ORPHA:96201
Joubert Syndrome 5	Central apnea, Episodic tachypnea	OMIM:610188
Hamamy Syndrome	Clinodactyly of the 5th finger, Short 2nd finger, Long fingers, Down-sloping shoulders, Syndactyl...	OMIM:611174
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Ureteral duplication, Abnormal pancreas morphology, Congenital meg...	ORPHA:116
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Hypoplastic anterior commissur...	OMIM:616975
Diethylstilbestrol Syndrome	Central apnea	ORPHA:1916
Limb-Mammary Syndrome	Cleft hard palate, Bifid uvula, Submucous cleft soft palate, Cleft palate, Hypodontia, Cleft lip	ORPHA:69085
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Pyruvate Carboxylase Deficiency	Subependymal cysts, Cerebral white matter atrophy, Basal ganglia gliosis, Agenesis of corpus call...	ORPHA:3008
Microphthalmia, Syndromic 6	Polydactyly, Abnormality of the hand, Clinodactyly of the 5th finger, Anterior hypopituitarism, F...	OMIM:607932
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Cardiomyopathy, Coronary artery stenosis, Spl...	ORPHA:565612
Joubert Syndrome 8	Occipital encephalocele, Ataxia, Prolonged neonatal jaundice, Hyperventilation	OMIM:612291
Skin Creases, Congenital Symmetric Circumferential, 2	Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Microcepha...	OMIM:616734
Distal Deletion 3P	Microcephaly, Ventriculomegaly, Postaxial hand polydactyly, Clinodactyly of the 5th finger	ORPHA:1620
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly	OMIM:618143
Holoprosencephaly	Anterior hypopituitarism, Diabetes insipidus, Panhypopituitarism, Diabetes mellitus, Aplasia/Hypo...	ORPHA:2162
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Nail bed telangiectasia, Cyanosis, Gastrointestinal arteriovenous malforma...	OMIM:187300
Schinzel-Giedion Midface Retraction Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Short 1st metacarpal, Wide distal femoral me...	OMIM:269150
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia, Chylothorax, Lymphedema, Pleural effusion, Severe short stature, Edema	ORPHA:2526
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Chromosome 8Q21.11 Deletion Syndrome	Hypoplasia of the corpus callosum, Short metacarpal, Camptodactyly, Syndactyly, Absent palmar crease	OMIM:614230
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Short 4th metacarpal, Small hand	ORPHA:1787
Coffin-Lowry Syndrome	Narrow palate, Short nose, Rectal prolapse, Wide nose, Anteverted nares, Thick nasal alae, High p...	OMIM:303600
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Intestinal malrotation, Renal hypoplasia, Downturned corners of mouth, Smooth ...	OMIM:619321
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypoplasia of the corpus callosum, Posterior pituitary hypoplasia, Short foot, Microcephaly, Cere...	ORPHA:464311
De Sanctis-Cacchione Syndrome	Cerebral atrophy, Bilateral coxa valga, Microcephaly, Basal ganglia calcification, Ventriculomegaly	OMIM:278800
Wolf-Hirschhorn Syndrome	Intrauterine growth retardation, Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs	ORPHA:280
Mullegama-Klein-Martinez Syndrome	Long philtrum, Short philtrum, Submucous cleft of soft and hard palate, Bifid uvula, Unsteady gai...	OMIM:301022
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Polymicrogyria, Syndactyly	OMIM:614520
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, Split hand, Upper limb phocomelia, Br...	ORPHA:989
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Sclerosteosis 1	Abnormal pelvic girdle bone morphology, Deviation of finger, Cortically dense long tubular bones,...	OMIM:269500
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Death in childhood, Emphysema, Neonatal death, Pulmonary artery dilata...	OMIM:614437
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Cutaneous syndactyly	ORPHA:2890
Kbg Syndrome	Radial deviation of finger, Clinodactyly of the 5th finger, Single transverse palmar crease, Ulna...	OMIM:148050
Primary Hyperoxaluria	Hematuria, Aciduria, Calcium oxalate nephrolithiasis, Hypercalciuria, Hyperoxaluria, Cutis marmor...	ORPHA:416
Serotonin Syndrome	Tachypnea	ORPHA:43116
Beta-Ketothiolase Deficiency	Tachypnea	ORPHA:134
Encephalocraniocutaneous Lipomatosis	Cerebral atrophy, Cerebral calcification, Subcortical cerebral atrophy, Cerebral cortical atrophy...	ORPHA:2396
Oculodentodigital Dysplasia, Autosomal Recessive	Short stature, Microphthalmia	OMIM:257850
Bardet-Biedl Syndrome 1	Radial deviation of finger, Postaxial hand polydactyly, Foot polydactyly, Postaxial polydactyly, ...	OMIM:209900
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Rhizomelia, Anophthalmia	OMIM:615877
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hydroureter, Unilateral renal agenesis, Thin lower lip vermilion, Bilateral renal agenesis, Micro...	OMIM:619194
Microphthalmia, Syndromic 3	Postnatal growth retardation, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Short stature...	OMIM:206900
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Hypospadias, Abnormal dental enamel morphology, Abnormal rectum morphology, Abnormali...	ORPHA:2556
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia	ORPHA:251038
1Q21.1 Microdeletion Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:250989
Branchiogenic-Deafness Syndrome	Submucous cleft hard palate	OMIM:609166
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosu...	OMIM:619418
Saethre-Chotzen Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Triphalangeal thumb, ...	ORPHA:794
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia	ORPHA:91495
Holoprosencephaly 13, X-Linked	Microcephaly, Agenesis of corpus callosum, Colpocephaly, Septo-optic dysplasia	OMIM:301043
Classical Ehlers-Danlos Syndrome	Rectal prolapse, Prematurely aged appearance, Fragile skin, Ecchymosis, Bladder diverticulum, Acr...	ORPHA:287
Fanconi Anemia	Hypoplasia of the ulna, Abnormal thumb morphology, Aplasia/Hypoplasia of fingers, Abnormal femur ...	ORPHA:84
Monosomy 9Q22.3	Polydactyly, Palmar pits, Hydrocephalus, Calcification of falx cerebri, Ventriculomegaly	ORPHA:77301
Meier-Gorlin Syndrome 5	Long philtrum, Submucous cleft hard palate, Micropenis, Thick vermilion border	OMIM:613805
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Action tremor, Ataxia, Hepatic steatosis, Hypospadias, Short philtrum, Trun...	ORPHA:3455
Wolf-Hirschhorn Syndrome	Talipes equinovarus, Cavum septum pellucidum, Hydrocephalus, Short hallux, Single transverse palm...	OMIM:194190
Trichothiodystrophy 1, Photosensitive	Short stature, Microphthalmia	OMIM:601675
Aicardi Syndrome	Polymicrogyria, Microcephaly, Pachygyria, Hip dysplasia, Ventriculomegaly, Partial agenesis of th...	ORPHA:50
Poland Syndrome	Finger symphalangism, Abnormality of the hand, Aplasia of the pectoralis major muscle, Aplasia/Hy...	ORPHA:2911
Cardiogenic Shock	Oliguria, Hypoxemia, Cyanosis	ORPHA:97292
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Triphalangeal thumb, Short metatarsal, Hydrocephalus, Pseudoepiphyse...	OMIM:107480
8Q21.11 Microdeletion Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Camptodactyly of finger, Absent palmar crease,...	ORPHA:284160
Poems Syndrome	Plethora, Pleural effusion, Acrocyanosis	ORPHA:2905
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Stolerman Neurodevelopmental Syndrome	Broad palm, Clinodactyly of the 5th finger, Syndactyly	OMIM:618505
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Finger syndactyly, Polymicrogyria, Broad thumb, Broad hallux phalanx,...	ORPHA:2211
Cardiac Valvular Dysplasia 2	Central cyanosis, Pulmonary artery dilatation	OMIM:620067
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Pulmonary edema, Tachypnea, Death in infancy	OMIM:220111
Oculoauricular Syndrome	Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia	OMIM:612109
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Megalencephaly, Communicating hydrocephalus, Cerebral cortical atrophy, Arachnodactyly, Diffuse w...	ORPHA:457359
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Cerebral atrophy, Hypoplasia of the corpus callosum, Tapered finger, Short foot, Camptodactyly, M...	OMIM:309590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Encephalocele	OMIM:253800
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Tooth malposition, Hypoplasia of penis, Failure of eruption of permanent teeth, Bifid uvula, Clef...	ORPHA:2250
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Hypoplasia of the iris	OMIM:613001
Hartsfield Syndrome	Ectrodactyly, Microcephaly, Gonadotropin deficiency, Syndactyly, Agenesis of corpus callosum	OMIM:615465
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Congenital hip dislocation, Syndactyly, Short t...	OMIM:263750
Autosomal Recessive Robinow Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor...	ORPHA:1507
Fanconi Anemia, Complementation Group N	Postnatal growth retardation, Microphthalmia	OMIM:610832
Joubert Syndrome 17	Abnormal renal morphology, Ataxia, Hyperventilation	OMIM:614615
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Oral cavity telangiectasia, Nail bed telangiectasia, Gastrointestinal arte...	OMIM:600376
Simpson-Golabi-Behmel Syndrome	Clinodactyly of the 5th finger, Short 2nd finger, Finger syndactyly, Dandy-Walker malformation, P...	ORPHA:373
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Microphthalmia, Short stature	OMIM:227645
Aicardi-Goutières Syndrome	Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Pr...	ORPHA:51
Hyperoxaluria, Primary, Type I	Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Cutis marmorata, Nephrocalcinosis, Acr...	OMIM:259900
Lowe Oculocerebrorenal Syndrome	Wrist swelling, Joint contracture of the hand, Genu valgum, Camptodactyly of finger, Finger swell...	OMIM:309000
Cardiofaciocutaneous Syndrome	Long philtrum, Submucous cleft hard palate, Hydronephrosis, High palate	ORPHA:1340
Mycophenolate Mofetil Embryopathy	Microphthalmia, Hydrops fetalis	ORPHA:268249
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Cardiac Valvular Dysplasia 1	Hydroureter, Pulmonary artery atresia, Urethral diverticulum, Hydronephrosis, Cyanosis	OMIM:212093
Malignant Hyperthermia Of Anesthesia	Hypercapnia, Tachypnea	ORPHA:423
Peters-Plus Syndrome	Cerebral atrophy, Limited elbow movement, Square pelvis bone, Rhizomelia, Proximal placement of t...	OMIM:261540
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short stature, Microphthalmia, Postnatal growth retardation, Rhizomelia	OMIM:608940
Ring Chromosome 7 Syndrome	Genu valgum, Clinodactyly of the 5th finger, Single transverse palmar crease, Short 5th finger, S...	ORPHA:1449
Otopalatodigital Syndrome, Type Ii	Stillbirth, Hypospadias, Respiratory insufficiency, Narrow mouth, Cleft palate, Hydronephrosis, R...	OMIM:304120
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Anomalous pulmonary venous return, Cyanosis	ORPHA:99104
Pseudotrisomy 13 Syndrome	Microphthalmia, Encephalocele	OMIM:264480
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Lip telangiectasia, Spontaneous, recurrent epistaxis, Nasal mucosa telangi...	OMIM:610655
Robinow Syndrome, Autosomal Dominant 3	Camptodactyly, Broad thumb, Short phalanx of finger, Mesomelia, Syndactyly, Brachydactyly, Clinod...	OMIM:616894
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Polyhydramnios, Encephalocele, Umbilical hernia	ORPHA:2166
Vater/Vacterl Association	Postnatal growth retardation, Occipital encephalocele, Esophageal atresia, Ectopic kidney, Hyposp...	OMIM:192350
Rubinstein-Taybi Syndrome 1	Polydactyly, Radial deviation of thumb terminal phalanx, Broad distal phalanx of finger, Clinodac...	OMIM:180849
Bartsocas-Papas Syndrome 1	Ulnar bowing, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Short phalanx of finger, Ab...	OMIM:263650
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Rhizomelia, Microphthalmia, Severe short stature	ORPHA:85167
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia	OMIM:601812
Cat Eye Syndrome	Microphthalmia, Umbilical hernia	OMIM:115470
Criss-Cross Heart	Cyanosis	ORPHA:1461
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Tachypnea	OMIM:615751
Autosomal Recessive Spondylocostal Dysostosis	Microcephaly, Camptodactyly of finger, Finger syndactyly	ORPHA:2311
Treacher Collins Syndrome 1	Cleft soft palate, Narrow mouth, Cleft palate, Wide mouth, Abnormal parotid gland morphology	OMIM:154500
Marfan Syndrome	Pneumothorax, Pulmonary artery dilatation, Emphysema	OMIM:154700
Cousin Syndrome	Disproportionate short stature, Microphthalmia, Rhizomelia, Hydranencephaly	OMIM:260660
Eec Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Anterior hypo...	ORPHA:1896
Gabriele-De Vries Syndrome	Hypoplasia of the corpus callosum, Decreased response to growth hormone stimulation test, Sandal ...	ORPHA:506358
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	2-3 toe cutaneous syndactyly, Camptodactyly, 3-4 finger cutaneous syndactyly, Cutaneous syndactyl...	OMIM:620029
Yunis-Varon Syndrome	Bilateral single transverse palmar creases, Flat acetabular roof, Microcephaly, Absent thumb, Sho...	OMIM:216340
Hypermobile Ehlers-Danlos Syndrome	Apnea, Acrocyanosis	ORPHA:285
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Short stature, Unilateral microphthalmos	OMIM:618874
Fanconi Anemia, Complementation Group L	Intrauterine growth retardation, Microphthalmia, Growth delay	OMIM:614083
Fanconi Anemia, Complementation Group E	Short stature, Microphthalmia	OMIM:600901
Incontinentia Pigmenti	Microphthalmia, Spina bifida occulta, Umbilical hernia	ORPHA:464
Meester-Loeys Syndrome	Broad distal phalanx of finger, Camptodactyly, Arachnodactyly, Brachydactyly, Ventriculomegaly	OMIM:300989
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal chondromatosis of femur, Metaphyseal chondromatosis of tibia, Abnormal septum pelluci...	ORPHA:99646
Trisomy 20P	Abnormal hip bone morphology, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Preaxial...	ORPHA:261318
Jacobsen Syndrome	Intrauterine growth retardation, Microphthalmia, Macular hypoplasia	OMIM:147791
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Hepatomegaly, Ventricular septal defect	ORPHA:96191
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Bilateral single transverse palmar creases, Toe syndactyly, Finger syndactyly, Palmoplantar hyper...	ORPHA:3253
Momo Syndrome	Short stature, Bilateral microphthalmos	ORPHA:2563
Meckel Syndrome	Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris, Oligohy...	ORPHA:564
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Fanconi Anemia, Complementation Group A	Short stature, Microphthalmia	OMIM:227650
Holoprosencephaly 3	Microcephaly, Ventriculomegaly	OMIM:142945
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Pancreatic endocrine tumor, Pheochromocytoma, Increased urinary cortis...	ORPHA:99889
Hallermann-Streiff Syndrome	Microphthalmia, Spina bifida, Proportionate short stature	OMIM:234100
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Grange Syndrome	Finger clinodactyly, Syndactyly, Brachydactyly	OMIM:602531
Degcags Syndrome	Polydactyly, Genu valgum, Microcephaly, Toe syndactyly, Syndactyly, Agenesis of corpus callosum, ...	OMIM:619488
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Faciodigitogenital Syndrome, Autosomal Recessive	Clinodactyly of the 5th finger, Short foot, Camptodactyly, Metatarsus adductus, Syndactyly, Broad...	OMIM:227330
Acrofrontofacionasal Dysostosis 1	Short stature, Microphthalmia	OMIM:201180
Microphthalmia, Syndromic 1	Growth delay, Pulmonary hypoplasia	OMIM:309800
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hypoplasia of the corpus callosum, Abnormal cortical gyration, Dandy-Walker malformation, Short f...	ORPHA:480880
Roberts-Sc Phocomelia Syndrome	Hypoplasia of the ulna, Stillbirth, Aplasia of the ulna, Radial deviation of finger, Abnormal met...	OMIM:268300
Arima Syndrome	Growth delay, Tachypnea, Dyspnea	OMIM:243910
Marfan Syndrome	Pulmonary artery dilatation, Emphysema, Spontaneous pneumothorax	ORPHA:558
Autosomal Dominant Kenny-Caffey Syndrome	Postnatal growth retardation, Bilateral microphthalmos, Short stature, Growth delay, Intrauterine...	ORPHA:93325
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Clinodactyly of the 5th finger, An...	ORPHA:466791
Atrial Septal Defect, Ostium Secundum Type	Pneumonia, Cyanosis	ORPHA:99103
Mckusick-Kaufman Syndrome	Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly,...	ORPHA:2473
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Monosomy 13Q14	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:1587
Incontinentia Pigmenti	Short stature, Microphthalmia, Hypoplasia of the fovea	OMIM:308300
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia	OMIM:243605
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Severe short stature	OMIM:127000
Rapp-Hodgkin Syndrome	Palmoplantar keratoderma, 2-3 toe cutaneous syndactyly, Syndactyly	OMIM:129400
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Ctcf-Related Neurodevelopmental Disorder	Clinodactyly of the 5th finger, Sandal gap, Joint contracture of the 5th finger, Single transvers...	ORPHA:363611
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Osteopathia striata, Microcephaly, Metatarsus adductus, Pachyg...	ORPHA:513456
Cornelia De Lange Syndrome	Bilateral single transverse palmar creases, Short 1st metacarpal, Proximal placement of thumb, Cl...	ORPHA:199
White-Kernohan Syndrome	Dysplastic corpus callosum, Hip dysplasia	OMIM:619426
Cockayne Syndrome B	Postnatal growth retardation, Microphthalmia, Hypoplasia of the iris, Severe short stature, Intra...	OMIM:133540
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Split hand	ORPHA:1300
Coffin-Siris Syndrome 12	Elevated circulating hepatic transaminase concentration, Hypospadias, High palate, Velopharyngeal...	OMIM:619325
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Cardiomegaly, Microcytic anemia	OMIM:256040
Basal Cell Nevus Syndrome 1	Microphthalmia, Spina bifida	OMIM:109400
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Hypoventilation, Head-banging, Anteverted nares, Phimosis, Impulsivity, Short stature, Chordee, D...	OMIM:620455
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Polyhydramnios, Short stature, Intrauterine growth retardation, Branchial cyst	OMIM:620186
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Intrauterine growth retardation, Microphthalmia, Severe postnatal growth retardation	OMIM:620005
Bloom Syndrome	Microcephaly, Hand polydactyly, Clinodactyly of the 5th finger, Syndactyly	OMIM:210900
Craniofacial Microsomia 1	Pulmonary hypoplasia	OMIM:164210
Eisenmenger Syndrome	Aortopulmonary window, Hypoxemia, Cyanosis, Renal insufficiency, Lethargy	ORPHA:97214
Monosomy 22	Clinodactyly of the 5th finger, Finger syndactyly, Single transverse palmar crease, Clubbing, Mic...	ORPHA:96123
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Loeys-Dietz Syndrome 2	Hydrocephalus, Absent distal phalanges, Camptodactyly, Postaxial polydactyly, Arachnodactyly, Pro...	OMIM:610168
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Microgastria-Limb Reduction Defect Syndrome	Growth delay, Microphthalmia, Anophthalmia	ORPHA:2538
Peters Plus Syndrome	Rhizomelia, Clinodactyly of the 5th finger, Anterior hypopituitarism, Hydrocephalus, Micromelia, ...	ORPHA:709
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Charge Syndrome	Postnatal growth retardation, Delayed puberty, Microphthalmia, Polyhydramnios, Anophthalmia, Shor...	ORPHA:138
Adult Syndrome	Split foot, Toe syndactyly, Finger syndactyly	ORPHA:978
Microphthalmia, Syndromic 2	Supernumerary tooth, Radiculomegaly, Hypospadias, Dental malocclusion, Delayed eruption of teeth,...	OMIM:300166
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Saethre-Chotzen Syndrome	Clinodactyly of the 5th finger, Absent first metatarsal, Abnormal pelvic girdle bone morphology, ...	OMIM:101400
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Tachypnea	ORPHA:415
Hallermann-Streiff Syndrome	Microphthalmia, Proportionate short stature	ORPHA:2108
Autosomal Dominant Robinow Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Micromelia, Coxa vara, Short palm, Camptodacty...	ORPHA:3107
Treacher-Collins Syndrome	Microphthalmia, Branchial fistula, Encephalocele	ORPHA:861
Trichothiodystrophy	Intrauterine growth retardation, Bilateral microphthalmos, Umbilical hernia	ORPHA:33364
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Medullary nephrocalcinosis, Ascites, Hyperphosphaturia, Pericardial effu...	ORPHA:51608
Rothmund-Thomson Syndrome, Type 2	Short stature, Microphthalmia	OMIM:268400
Lacrimoauriculodentodigital Syndrome	Hypoplasia of the radius, Abnormal thumb morphology, Finger syndactyly, Abnormal digit morphology...	ORPHA:2363
Fanconi Anemia, Complementation Group D2	Short stature, Microphthalmia	OMIM:227646
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Submucous cleft hard palate, Neoplasm of the tongue, Recurrent respiratory infections, Bifid uvula	ORPHA:3047
Tolchin-Le Caignec Syndrome	Attention deficit hyperactivity disorder, Submucous cleft hard palate, Narrow mouth, High palate	OMIM:618971
Mowat-Wilson Syndrome	Abnormality of the kidney, Aganglionic megacolon, Widely spaced teeth, Hypospadias, Tooth malposi...	OMIM:235730
Cranioectodermal Dysplasia 2	Polydactyly, Rhizomelia, Postaxial hand polydactyly, Mesomelia, Syndactyly, Brachydactyly, Clinod...	OMIM:613610
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia, Occipital meningocele	OMIM:610828
Osteoporosis-Pseudoglioma Syndrome	Short stature, Phthisis bulbi, Microphthalmia	OMIM:259770
Constricting Bands, Congenital	Hand polydactyly, Syndactyly, Talipes equinovarus	OMIM:217100
Autosomal Recessive Faciodigitogenital Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Short foot, Brachydactyly, Down-sloping shoulders	ORPHA:1974
Robinow Syndrome	Mesomelic arm shortening, Mesomelia, Bifid distal phalanx of the thumb, Syndactyly, Brachydactyly...	ORPHA:97360
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sirenomelia, Clinodactyly of the 5th finger, ...	ORPHA:79500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Polymicrogyria, Type II lissencephaly, Microcephaly, Pachygyria, Ventriculomegaly,...	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	Microphthalmia, Umbilical hernia	OMIM:613884
Cockayne Syndrome	Postnatal growth retardation, Delayed puberty, Microphthalmia, Growth delay, Severe short stature	ORPHA:191
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Hydrolethalus Syndrome 1	Intrauterine growth retardation, Microphthalmia, Polyhydramnios, Anencephaly	OMIM:236680
Acute Liver Failure	Acute kidney injury, Agitation, Jaundice, Ataxia, Bruising susceptibility, Hypocapnia, Hyperventi...	ORPHA:90062
Hereditary Acrokeratotic Poikiloderma	Abnormal hip bone morphology, Abnormal metacarpal morphology, Finger syndactyly, Camptodactyly of...	ORPHA:2907
Proteus Syndrome	Abnormal lung lobation, Bronchogenic cyst, Pulmonary bulla, Diabetes insipidus, Neoplasm of the l...	ORPHA:744
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Exercise-Induced Malignant Hyperthermia	Tachypnea, Hypocapnia	ORPHA:466650
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Short stature, Occipital meningocele	OMIM:610829
Neuroocular Syndrome	Widely spaced teeth, Short uvula, Increased overbite, Ankyloglossia, Downturned corners of mouth,...	OMIM:619539
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Incr...	ORPHA:96253
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature, Syndactyly	ORPHA:1521
Phace Syndrome	Optic nerve hypoplasia, Microphthalmia, Lens coloboma	ORPHA:42775
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Toe syndactyly, Abnormality of the upper limb, Short lower limbs	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	Solitary median maxillary central incisor, Bilateral cleft palate, Median cleft palate, Bifid uvu...	OMIM:157170
Bardet-Biedl Syndrome	Hypertriglyceridemia, Finger syndactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Talipe...	ORPHA:110
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Spina bifida occulta, Anophthalmia, Myelomeningocele, Umbilical hernia	OMIM:305600
Trichorhinophalangeal Syndrome, Type Ii	Hip subluxation, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the ha...	OMIM:150230
Monosomy 9P	Microphthalmia	ORPHA:261112
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis, Pulmonary artery atresia	ORPHA:216694
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Spina bifida occulta, Optic nerve hypoplasia, Short stature, Infancy on...	ORPHA:508488
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
African Trypanosomiasis	Abnormality of renin-angiotensin system, Abnormality of the endocrine system, Miscarriage, Abnorm...	ORPHA:3385
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Renpenning Syndrome 1	Short stature, Microphthalmia	OMIM:309500
Charge Syndrome	Postnatal growth retardation, Delayed puberty, Microphthalmia, Polyhydramnios, Anophthalmia, Unil...	OMIM:214800
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Genu varum	ORPHA:1969
Proboscis Lateralis	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	ORPHA:141099
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Pachygyria	ORPHA:2136
Pallister-Hall Syndrome	Microphthalmia, Short stature, Umbilical hernia, Intrauterine growth retardation, Oligohydramnios	ORPHA:672
Kindler Epidermolysis Bullosa	Short 4th metacarpal, Finger syndactyly, Camptodactyly of finger, Palmoplantar keratoderma, Short...	ORPHA:2908
Holoprosencephaly 1	Short stature, Microphthalmia	OMIM:236100
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Short toe, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:1519
Branchiooculofacial Syndrome	Postnatal growth retardation, Microphthalmia, Anophthalmia, Branchial anomaly, Intrauterine growt...	OMIM:113620
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250
Norrie Disease	Delayed puberty, Microphthalmia, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens	ORPHA:649
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Sandal gap, Microcephaly, Toe clinodactyly, Long fingers, Cutaneous syndactyly	OMIM:620330
Sotos Syndrome	Hypothyroidism, Small cell lung carcinoma, Pulmonary bleb	ORPHA:821
Townes-Brocks Syndrome	Delayed puberty, Microphthalmia, Short stature	ORPHA:857
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Hypoplasia of the iris	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

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Gross Morphology Embryo E14.5-E15.5

MicroCT E14.5-E15.5

Human diseases caused by Dhcr7 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data