Gene: Ehmt1 MGI:1924933

Gene Summary

Name:

euchromatic histone methyltransferase 1

Synonyms:

KMT1D, 9230102N17Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	P Value
increased circulating cholesterol level	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.70×10^-05
decreased circulating serum albumin level	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	9.75×10^-06
increased circulating LDL cholesterol level	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	7.82×10^-08
decreased circulating creatinine level	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	4.09×10^-05
increased lean body mass	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	5.75×10^-06
decreased locomotor activity	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.30×10^-09
increased mean platelet volume	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.84×10^-06
increased anxiety-related response	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.39×10^-05
increased neutrophil cell number	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.75×10^-05
decreased blood urea nitrogen level	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.96×10^-07
preweaning lethality, complete penetrance	Ehmt1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
corneal opacity	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.09×10^-05
decreased exploration in new environment	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.70×10^-05
increased thigmotaxis	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	6.88×10^-05
increased grip strength	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.89×10^-06
abnormal behavior	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	6.32×10^-05

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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.

Phenotype associated images not available

Human diseases caused by Ehmt1 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 Ehmt1 (3 diseases)
Human diseases predicted to be associated with Ehmt1 (1078 diseases)

The table below shows human diseases associated to Ehmt1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Kleefstra Syndrome 1	Natal tooth, Persistence of primary teeth, Anteverted nares, Protruding tongue, Malar flattening,...	OMIM:610253
Kleefstra Syndrome Due To A Point Mutation	Self-injurious behavior, Abnormality of the dentition, Natal tooth, Tracheomalacia, Thick lower l...	ORPHA:261652
Kleefstra Syndrome Due To 9Q34 Microdeletion	Depression, Agenesis of corpus callosum, Irritability	ORPHA:96147

The table below shows human diseases predicted to be associated to Ehmt1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Autism, Susceptibility To, 20	Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity	OMIM:618830
Intellectual Developmental Disorder, Autosomal Recessive 66	Aggressive behavior, Attention deficit hyperactivity disorder, Gait ataxia, Excessive shyness	OMIM:618221
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Abnormal trabecular bone morphology, Mandibular osteomyelitis, Dent...	ORPHA:83451
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile...	OMIM:619868
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Craniosynostosis 3	Dental malocclusion, Bicoronal synostosis, Sagittal craniosynostosis, Right unicoronal synostosis...	OMIM:615314
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Short stepped shuffling gait, Shuffling gait, Memory impairment, Falls, Inappropriate behavior, S...	ORPHA:412066
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion, Prominent nose, Aggressive behavior, Hyperactivity, Short stature, Motor ste...	OMIM:615541
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia	ORPHA:94124
Hypothyroidism, Congenital, Nongoitrous, 8	Diminished ability to concentrate, Attention deficit hyperactivity disorder, Hypercholesterolemia	OMIM:301033
Intellectual Developmental Disorder, X-Linked 109	Intrauterine growth retardation, Prominent nasal bridge, Recurrent hand flapping, Stereotypical b...	OMIM:309548
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Hyperlipoproteinemia, Type Ii, And Deafness	Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Citrullinemia Type Ii	Hypoalbuminemia, Mania, Memory impairment, Decreased body mass index, Decreased HDL cholesterol c...	ORPHA:247585
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia	OMIM:607250
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Reduc...	OMIM:210250
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Mental deterioration, Limb ataxia, Gait ataxia, Elevated circulating creatine ki...	OMIM:208920
Primary Condylar Hyperplasia	Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno...	ORPHA:477781
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Ataxia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin conc...	OMIM:267700
Fraxe Intellectual Disability	Intrauterine growth retardation, Prominent nasal bridge, Stereotypical body rocking, Agitation, R...	ORPHA:100973
Rubinstein-Taybi Syndrome 2	Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Prominent nose, Micrognathia, In...	OMIM:613684
Glycogen Storage Disease Vi	Failure to thrive in infancy, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia	OMIM:232700
Cleft Palate, Isolated	Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate	OMIM:119540
Mulibrey Nanism	Wide nasal bridge, Depressed nasal bridge, Microglossia, Dental malocclusion, Dental crowding, In...	OMIM:253250
Lethal Osteosclerotic Bone Dysplasia	Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Anteverted nares, Micrognath...	ORPHA:1832
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Immunodeficiency 27A	Hypoalbuminemia, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Thrombocy...	OMIM:209950
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy...	OMIM:155100
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Chromosome 15Q11-Q13 Duplication Syndrome	Impaired ability to form peer relationships, Restrictive behavior, Inflexible adherence to routin...	OMIM:608636
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Hypercholesterolemia	OMIM:608320
Pycnodysostosis	Carious teeth, Delayed cranial suture closure, Micrognathia, Delayed eruption of primary teeth, H...	ORPHA:763
Camptodactyly Syndrome, Guadalajara Type 1	Depressed nasal bridge, Dental malocclusion, Downturned corners of mouth, Camptodactyly of finger...	ORPHA:1327
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Myh9-Related Disease	Giant platelets, Presenile cataracts, Congenital thrombocytopenia, Neutrophil inclusion bodies, I...	ORPHA:182050
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Motor stereotypy, Reduced social reciprocity	OMIM:606053
Mcdonough Syndrome	Dental malocclusion, Underdeveloped nasal alae, Open bite, Prominent nose, Micrognathia, Abnormal...	ORPHA:2471
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Cognitive impairment, Ataxia, Elevated circulatin...	OMIM:616267
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular...	OMIM:614669
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Dental malocclusion, Underdeveloped nasal alae, Widely spaced teeth, Malar flattening, Short stature	OMIM:616108
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Ataxia, Progressive cerebellar ataxia, Corneal dystrophy, Corneal opacity	ORPHA:3177
Potocki-Lupski Syndrome	Dental malocclusion, Dental crowding, Oral-pharyngeal dysphagia, Micrognathia, Wide mouth, Motor ...	OMIM:610883
Immunodeficiency 32B	Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocyt...	OMIM:226990
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Dental malocclusion, Anteverted nares, High palate, Mandibular prognathia, Mild short stature	OMIM:618292
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia	OMIM:615008
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Weight l...	ORPHA:507
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat...	OMIM:616000
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Cataract, Broad-based gait, Failure to thrive in infancy, Microcytic anemia	OMIM:618805
Childhood Disintegrative Disorder	Mental deterioration, Abnormal emotion, Reduced social reciprocity, Social and occupational deter...	ORPHA:168782
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ...	OMIM:620632
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, Dental malocclusion, Dysphagia, High palate, Arthrogryposis multiplex cong...	OMIM:608931
Seckel Syndrome 1	Dental malocclusion, Dental crowding, Selective tooth agenesis, Dislocated radial head, Elbow fle...	OMIM:210600
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Oral-pharyngeal dys...	ORPHA:199306
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Short columella, Dental malocclusion, Short nose	OMIM:155050
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole...	OMIM:246700
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia, Failure to...	OMIM:613752
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr...	OMIM:616050
Hyperinsulinemic Hypoglycemia, Familial, 8	Attention deficit hyperactivity disorder, Increased C-peptide level, Hypercholesterolemia, Hypera...	OMIM:620211
Intellectual Developmental Disorder, Autosomal Recessive 64	Aggressive behavior, Reduced social reciprocity	OMIM:618103
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Ataxia, Hemophagocytosis, Failure to thrive, Increased total bilirubin, Increase...	OMIM:603553
Hsd10 Disease	Short attention span, Tremor, Gait disturbance, Ataxia, Dysphagia, Choreoathetosis, Abnormal soci...	ORPHA:391417
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Hyperc...	OMIM:615703
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Eosinophilic Gastroenteritis	Hypoalbuminemia, Leukocytosis, Anemia, Eosinophilia, Weight loss, Elevated circulating C-reactive...	ORPHA:2070
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Anemia, Hyperlipidemia	OMIM:603278
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholest...	ORPHA:64753
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus...	OMIM:125500
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Abnormal social behavior, Hyperactivity	ORPHA:436151
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Diarrhea 13	Hypoalbuminemia, Failure to thrive	OMIM:620357
Intermediate Osteopetrosis	Abnormality of the dentition, Dental malocclusion, Cortical sclerosis, Osteomyelitis, Abnormal de...	ORPHA:210110
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Depressed nasal bridge, Joint contracture of the hand, Osteopenia, Dental malocclusion, Delayed e...	OMIM:612350
Muenke Syndrome	Coronal craniosynostosis, Dental malocclusion, Malar flattening, Attention deficit hyperactivity ...	OMIM:602849
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Dental malocclusion, Hyperostosis, Thickened cortex of...	OMIM:144750
Lowry-Maclean Syndrome	Delayed eruption of teeth, Intrauterine growth retardation, Convex nasal ridge, Craniosynostosis,...	OMIM:600252
Cog4-Cdg	Failure to thrive in infancy, Hepatosplenomegaly, Irritability, Hypercholesterolemia, Thrombocyto...	ORPHA:263501
Intellectual Disability And Myopathy Syndrome	Congenital hip dislocation, Broad nasal tip, Dental malocclusion, Limited elbow extension, Thin u...	OMIM:619719
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity	ORPHA:88643
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short stature, Abnormality of the dentition, Mandibular prognathia, Dental malocclusion	ORPHA:1858
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob...	ORPHA:66624
Lessel-Kreienkamp Syndrome	Wide nasal bridge, Dental malocclusion, Open mouth, Thin upper lip vermilion, Aggressive behavior...	OMIM:619149
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Inability to walk, Reduced social reciprocity, Dystonia, Motor stereotypy	OMIM:617820
Erythroderma, Lethal Congenital	Hypoalbuminemia, Failure to thrive	OMIM:227090
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Postnatal growth retardation, Micrognathia, Narrow mouth, Polyphagia, Abnormality of the knee, Hi...	ORPHA:251028
Alpha-Mannosidosis	Synostosis of joints, Depressed nasal bridge, Craniofacial hyperostosis, Dental malocclusion, Wid...	ORPHA:61
Congenital Enterovirus Infection	Hypoalbuminemia, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage morphology, Irrita...	ORPHA:292
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal...	ORPHA:247598
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Man...	OMIM:602483
Foxg1 Syndrome	Difficulty walking, Inability to walk, Bruxism, Reduced social reciprocity, Stereotypical hand wr...	ORPHA:561854
Blepharophimosis-Impaired Intellectual Development Syndrome	Wide nasal bridge, Dental malocclusion, Underdeveloped nasal alae, Widely spaced teeth, Anteverte...	OMIM:619293
Intellectual Developmental Disorder, X-Linked 58	Short philtrum, Dental malocclusion	OMIM:300210
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Paroxysmal bursts of laughter, Motor stereotypy, Decreased body weight	OMIM:618347
Pelger-Huet Anomaly	Giant platelets, Failure to thrive, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neut...	OMIM:169400
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo...	OMIM:231200
Three M Syndrome 2	Severe short stature, Depressed nasal bridge, Dental malocclusion, Delayed eruption of teeth, Lon...	OMIM:612921
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Depression, Resting tremor, Limb ataxia, Gait ataxia, Dysmetria, Reduced social reciprocity, Dyst...	OMIM:615157
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i...	OMIM:204700
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Hemifacial Atrophy, Progressive	Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami	OMIM:141300
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment, Exaggerated startle...	ORPHA:309246
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion, Joint hypermobility	OMIM:619692
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Oculodentodigital Dysplasia, Autosomal Recessive	Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio...	OMIM:257850
Galactokinase Deficiency	Cataract, Nuclear cataract, Small for gestational age, Failure to thrive, Hepatosplenomegaly, Hyp...	ORPHA:79237
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules	ORPHA:238459
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration, Failure to thrive, Ataxia	ORPHA:79320
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia, Corneal opacity	ORPHA:1980
Morgagni-Stewart-Morel Syndrome	Memory impairment, Depression, Obesity, Hyperuricemia, Hypercholesterolemia, Cognitive impairment	ORPHA:77296
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An...	ORPHA:158061
Larsen-Like Syndrome	Dental malocclusion, Joint dislocation, Malar flattening, Joint hypermobility, Absent nasal bridg...	OMIM:608545
Fish-Eye Disease	Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Progressive Supranuclear Palsy	Blepharospasm, Depression, Memory impairment, Falls, Emotional lability, Tremor, Irritability, Dy...	ORPHA:683
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Dental malocclusion, Broad columella, Underdeveloped nasal alae, Diastema, Micrognathia, Malar fl...	ORPHA:436245
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Large for gestational age, Corneal opacity	ORPHA:2432
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Attention deficit hyperactivity disorder, Intention tremor, Reduced social reciprocity, Ataxia	ORPHA:137831
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Confusion, Reticulocytosis, Thrombocytopenia, Decreased serum ...	ORPHA:54057
Intellectual Developmental Disorder, Autosomal Recessive 54	Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response	OMIM:617028
Amelogenesis Imperfecta, Type Ic	Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp...	OMIM:204650
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta, Intrauterine growth retardation, Wormian bones, Thin bony cortex, Mult...	OMIM:619795
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo...	OMIM:616221
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Hao-Fountain Syndrome	Aggressive behavior, Large fontanelles, Delayed cranial suture closure	OMIM:616863
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Myopathy, Myofibrillar, 8	Dental malocclusion, Micrognathia, Joint contracture of the 5th finger, High palate, Joint hyperm...	OMIM:617258
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomegaly, Elevated circulating c...	OMIM:616828
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Incre...	OMIM:617443
Hepatic Lipase Deficiency	Corneal arcus, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia	OMIM:619013
Robinow Syndrome, Autosomal Dominant 2	Depressed nasal bridge, Abnormality of the dentition, Dental malocclusion, Dental crowding, Long ...	OMIM:616331
Young-Onset Parkinson Disease	Depression, Frontal lobe dementia, Gait imbalance, Short attention span, Restless legs, Reduced s...	ORPHA:2828
Refractory Celiac Disease	Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Aggressive behavior, Decreased serum cre...	OMIM:612736
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
11Q22.2Q22.3 Microdeletion Syndrome	Compulsive behaviors, Attention deficit hyperactivity disorder, Short attention span, Abnormal so...	ORPHA:444002
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Dental malocclusion, Growth delay, Dental crowding, Pathologic fracture, Joint...	OMIM:614008
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Failure to thrive, Elevated circulating creatinine concentration, Thrombocytopen...	OMIM:608104
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a...	OMIM:617021
Congenital Lethal Erythroderma	Hypoalbuminemia, Failure to thrive	ORPHA:1954
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta, Limitation of joint mobility, Pathologic fracture, Abnormal cortical b...	ORPHA:166277
Gómez-López-Hernández Syndrome	Ataxia, Cognitive impairment, Corneal opacity	ORPHA:1532
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Wide nasal bridge, Multiple suture craniosynostosis, Broad secondary alveolar ridge, Postnatal gr...	ORPHA:3369
Kabuki Syndrome 2	Broad nasal tip, Dental malocclusion, Natal tooth, Postnatal growth retardation, Depressed nasal ...	OMIM:300867
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Intellectual Developmental Disorder, Autosomal Dominant 56	Broad-based gait, Lateral ventricle dilatation, Inability to walk, Short attention span, Reduced ...	OMIM:617854
Acrootoocular Syndrome	Wide nasal base, High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Grayish ena...	ORPHA:2980
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Irritability, Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decre...	OMIM:300539
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta, Osteopenia, Anterior radial head dislocation, Joint hypermobility, Lim...	OMIM:610967
Acrodysostosis 1 With Or Without Hormone Resistance	Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Dental malocclusion, Delayed ...	OMIM:101800
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Splenomegaly, Hyperuricemia, Hypertriglyceridemia	OMIM:306000
Reni Syndrome	Hypoalbuminemia, Mental deterioration, Lymphopenia, Hypertriglyceridemia, Ataxia	OMIM:617575
Grant Syndrome	Depressed nasal bridge, Joint dislocation, Open bite, Micrognathia, Abnormal cortical bone morpho...	ORPHA:2097
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Pancytopenia, Increased blood urea nitrogen, Failu...	OMIM:617872
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ...	ORPHA:103910
Intellectual Disability, Buenos-Aires Type	Wide nasal bridge, Dental malocclusion, Umbilical hernia, Open bite, Abnormal dental morphology, ...	ORPHA:3079
Ménétrier Disease	Hypoalbuminemia, Weight loss, Hypochromic microcytic anemia, Anorexia, Hypoproteinemia	ORPHA:2494
Wolcott-Rallison Syndrome	Hypoalbuminemia, Difficulty walking, Hyperbilirubinemia, Hyperammonemia, Decreased body weight, H...	ORPHA:1667
Frontometaphyseal Dysplasia 1	Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited elbow movement, Absent frontal...	OMIM:305620
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Early-Onset Autosomal Dominant Alzheimer Disease	Memory impairment, Confusion, Disinhibition, Ataxia, Dementia, Semantic dementia, Abnormal social...	ORPHA:1020
Immunodeficiency 43	Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le...	OMIM:241600
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Carious teeth, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Ivory e...	OMIM:190350
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Dental crowding, Long philtrum, Anteverted nares, Thin upper lip vermilion, Everted l...	OMIM:617877
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Tremor, Irritab...	ORPHA:3077
Hepatoportal Sclerosis	Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Cognitive impairmen...	ORPHA:64743
Short Stature-Wormian Bones-Dextrocardia Syndrome	Wide nasal bridge, Delayed eruption of teeth, Camptodactyly of finger, Tooth agenesis, Depressed ...	ORPHA:2863
Osteogenesis Imperfecta, Type Xii	Generalized osteoporosis, Depressed nasal bridge, Dentinogenesis imperfecta, Hypermobility of int...	OMIM:613849
Cri-Du-Chat Syndrome	Wide nasal bridge, Bifid uvula, Microretrognathia, Downturned corners of mouth, Thick lower lip v...	OMIM:123450
Ataxia With Vitamin E Deficiency	Short term memory impairment, Ataxia, Xanthelasma, Increased LDL cholesterol concentration, Dysme...	OMIM:277460
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Keratoconus, Failure to thrive, Increased serum bile acid concentration, Conjunc...	OMIM:242150
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Small for gestatio...	OMIM:222470
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia	OMIM:617585
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Fanconi Anemia, Complementation Group S	Dental malocclusion, Underdeveloped nasal alae, Thick upper lip vermilion, Macrodontia, Anteverte...	OMIM:617883
Harrod Syndrome	Dental malocclusion, Intrauterine growth retardation, Narrow mouth, Joint hypermobility, Long nos...	ORPHA:2115
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen...	ORPHA:89842
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia	OMIM:612526
Van Maldergem Syndrome 1	Wide nasal bridge, Osteopenia, Hypoplasia of the maxilla, Dental malocclusion, Tracheomalacia, Do...	OMIM:601390
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Mental deterioration, Gait ataxia, Thrombocytopenia, Unsteady gait, Dysphagia, N...	OMIM:254900
Smith-Magenis Syndrome	Head-banging, Onychotillomania, Self-mutilation, Increased body weight, Hypercholesterolemia, Hyp...	OMIM:182290
Autosomal Recessive Kenny-Caffey Syndrome	Carious teeth, Delayed cranial suture closure, Postnatal growth retardation, Intrauterine growth ...	ORPHA:93324
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Small for gestat...	ORPHA:86816
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Galactosialidosis	Corneal opacity	ORPHA:351
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Narrow mouth, Everted lower lip vermilion, High palate, High, narrow p...	OMIM:234100
Intellectual Developmental Disorder, Autosomal Recessive 6	Kinetic tremor, Postural tremor, Reduced social reciprocity, Torticollis	OMIM:611092
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Abetalipoproteinemia	Hypoalbuminemia, Ataxia, Broad-based gait, Hypotriglyceridemia, Failure to thrive, Hypocholestero...	ORPHA:14
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Splenomegaly, Hypertriglyceridemia	ORPHA:75234
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Zimmermann-Laband Syndrome	Bifid uvula, Bulbous nose, Micrognathia, Wide mouth, Joint hypermobility, Gingival fibromatosis, ...	ORPHA:3473
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ne...	ORPHA:540
Hypercholesterolemia, Familial, 3	Corneal arcus, Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Failure to thrive, Hypocystinemia	OMIM:617744
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Wide nasal bridge, Abnormality of the dentition, Dental malocclusion, Thick lower lip vermilion, ...	ORPHA:85321
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Lattice Corneal Dystrophy Type I	Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur...	ORPHA:98964
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hypocholesterolemia, Splenomegaly, Failure to thrive	OMIM:608776
Potocki-Shaffer syndrome	Delayed cranial suture closure	DECIPHER:34
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Porphyria Due To Ala Dehydratase Deficiency	Depression, Restlessness, Abnormal fear-induced behavior, Difficulty walking, Confusion, Abnormal...	ORPHA:100924
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Small for gestational age	OMIM:256300
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Irritability	ORPHA:656
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia, Irritability	OMIM:613070
Parkinsonism-Dystonia 3, Childhood-Onset	Depression, Action tremor, Reduced social reciprocity, Tremor, Aggressive behavior, Ataxia, Dysto...	OMIM:619738
Short Syndrome	Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Underdeveloped nasal alae, Dow...	OMIM:269880
Coffin-Siris Syndrome 6	High, narrow palate, Depressed nasal bridge, Broad nasal tip, Retrognathia, Micrognathia, Wormian...	OMIM:617808
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume	OMIM:620475
Momo Syndrome	Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip v...	ORPHA:2563
Pycnodysostosis	Narrow palate, Carious teeth, Persistent open anterior fontanelle, Prominent nose, Micrognathia, ...	OMIM:265800
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Synostosis of carpal bones, Delayed...	OMIM:101200
Van Maldergem Syndrome 2	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Osteopenia, Dental malocclu...	OMIM:615546
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid...	ORPHA:567548
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ...	ORPHA:49042
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula...	ORPHA:86839
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Elevated circulating creatinine concentration, Neutropenia, Hyperuricemia	OMIM:617056
Craniometadiaphyseal Dysplasia	Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Sclerosis of s...	OMIM:269300
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Abnormal circulating homocysteine concent...	ORPHA:88618
Hypercholesterolemia, Familial, 2	Corneal arcus, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Odontotrichoungual-Digital-Palmar Syndrome	Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border	OMIM:601957
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Winchester Syndrome	Corneal opacity	OMIM:277950
Avian Influenza	Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr...	ORPHA:454836
Lcat Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased circulating apolipoprote...	ORPHA:650
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m...	ORPHA:90362
Megalocornea-Intellectual Disability Syndrome	Hypoplasia of the iris, Megalocornea, Astigmatism, Iridodonesis, Hypercholesterolemia, Abnormal a...	ORPHA:2479
Cholesteryl Ester Storage Disease	Failure to thrive, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Hy...	OMIM:278000
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hemolytic anemia, Hypernatrem...	ORPHA:529808
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Lowry-Maclean Syndrome	High, narrow palate, Choanal atresia, Hypoplasia of the maxilla, Osteopenia, Growth delay, Retrog...	ORPHA:2409
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hemolytic anemia, Hypernatrem...	ORPHA:529799
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Micrognathia, Dysplastic patella, Narrow mouth, Patellar aplasia, Dislocat...	OMIM:265000
Atypical Rett Syndrome	Restrictive behavior, Pill-rolling tremor, Inability to walk, Bruxism, Inappropriate laughter, Ga...	ORPHA:3095
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Hypoproteinemia	OMIM:226300
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta, Disproportionate short-limb short stature, Bowing of limbs due to mult...	OMIM:259440
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
7Q11.23 Microduplication Syndrome	Micrognathia, Short lingual frenulum, Polyphagia, High palate, Motor stereotypy, Self-injurious b...	ORPHA:96121
Hajdu-Cheney Syndrome	Micrognathia, Narrow mouth, Genu valgum, Absent frontal sinuses, Crowded carpal bones, Dislocated...	OMIM:102500
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Lysinuric Protein Intolerance	Hemophagocytosis, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, O...	ORPHA:470
Oliver Syndrome	Dental malocclusion, Camptodactyly of finger, Elbow flexion contracture, Intrauterine growth reta...	ORPHA:2920
Smith-Magenis Syndrome	Self-injurious behavior, Microcornea, Failure to thrive in infancy, Obesity, Attention deficit hy...	ORPHA:819
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi...	OMIM:605814
Thiel-Behnke Corneal Dystrophy	Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn...	ORPHA:98960
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,...	OMIM:235400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Open bite, Open mouth, High, narro...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Open bite, Open mouth, High, narro...	ORPHA:352665
Hamamy Syndrome	Wide nasal bridge, Osteopenia, Dental malocclusion, Long philtrum, Neck pterygia, Anteverted nare...	OMIM:611174
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Elevated circulating creatinine concentration, Confusion, Hypocalcemia, Abscess,...	ORPHA:36234
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy, Ataxia	OMIM:271310
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Acquired Aneurysmal Subarachnoid Hemorrhage	Memory impairment, Leukocytosis, Addictive alcohol use, Hypercholesterolemia, Cognitive impairmen...	ORPHA:90065
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Disproportionate short-limb short stature, Bowing of limbs due to multiple fractures, Decreased c...	OMIM:259410
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Beaulieu-Boycott-Innes Syndrome	Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Long nose, Low ha...	OMIM:613680
Generalized Pustular Psoriasis	Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circula...	ORPHA:247353
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Recurrent fractures	ORPHA:2773
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Oral-pharyngeal dysphagia, Misalignment of incisors, Postnatal growth retardatio...	OMIM:619184
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul...	OMIM:610202
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Dental malocclusion, Contractures of the large joints, Micrognathia, Thin upper lip v...	ORPHA:329178
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing	ORPHA:397933
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi...	ORPHA:91547
Metachromatic Leukodystrophy, Juvenile Form	Progressive psychomotor deterioration, Short attention span, Emotional lability, Intention tremor...	ORPHA:309263
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Obesity, Hypercholesterolemia	ORPHA:254531
Metachromatic Leukodystrophy, Adult Form	Memory impairment, Depression, Progressive psychomotor deterioration, Difficulty walking, Short a...	ORPHA:309271
Marbach-Rustad Progeroid Syndrome	Growth delay, Eruption failure, Intrauterine growth retardation, Micrognathia, Narrow mouth, Dela...	OMIM:619322
Au-Kline Syndrome	Bifid nasal tip, Bifid uvula, Dental malocclusion, Retrognathia, Underdeveloped nasal alae, Downt...	OMIM:616580
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Failure to thrive, Hepatosplenomegaly, Self-mutilation, Irritability, Weight los...	OMIM:619487
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Corneal arcus, N...	OMIM:245900
Temple Syndrome	Obesity, Hypercholesterolemia, Truncal obesity, Hypertriglyceridemia, Overweight, Small for gesta...	OMIM:616222
Acalvaria	Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
Gomez-Lopez-Hernandez Syndrome	Self-injurious behavior, Anteverted nares, Thin vermilion border, Malar flattening, Smooth philtr...	OMIM:601853
Myoclonic-Astatic Epilepsy	Abnormal emotion, Reduced social reciprocity, Tremor, Attention deficit hyperactivity disorder, H...	ORPHA:1942
Frank-Ter Haar Syndrome	Depressed nasal bridge, Osteopenia, Broad nasal tip, Dental malocclusion, Delayed cranial suture ...	OMIM:249420
Mucolipidosis Type Iii	Cognitive impairment, Corneal opacity	ORPHA:577
Phelan-Mcdermid Syndrome	Wide nasal bridge, Dental malocclusion, Long philtrum, Widely spaced teeth, Bulbous nose, Bruxism...	OMIM:606232
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Takenouchi-Kosaki Syndrome	Ataxia, Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Inability to walk, Leukopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia	OMIM:617303
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the dentition, Carious teeth, Dental malocclusion, Retrognathia, Velopharyngeal in...	ORPHA:363444
Neuhauser Syndrome	Corneal arcus, Hypoplasia of the iris, Megalocornea, Iridodonesis, Hypercholesterolemia, Ataxia, ...	OMIM:249310
Insulin-Like Growth Factor I Deficiency	Osteopenia, Postnatal growth retardation, Intrauterine growth retardation, Micrognathia, Hyperact...	OMIM:608747
Cardiofaciocutaneous Syndrome 1	Depressed nasal bridge, Osteopenia, Abnormality of the dentition, Dental malocclusion, Open bite,...	OMIM:115150
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Dentinogenesis imperfecta, Osteopenia, Microretrognathia, Coronal cr...	OMIM:616294
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Bifid uvula, Dental malocclusion, Selective tooth agenesis, Micrognathia, Multiple jo...	ORPHA:2959
Cole-Carpenter Syndrome 1	Dentinogenesis imperfecta, Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Microg...	OMIM:112240
Dysostosis, Stanescu Type	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Macroglossia, Hypoplasia ...	ORPHA:1798
Auriculocondylar Syndrome	Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno...	ORPHA:137888
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Wormian bones, Joint hypermobility	ORPHA:2787
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Self-injurious behavior, Abnormal temper tantrums, Depression, Short attention span, Recurrent ha...	ORPHA:449291
Pitt-Hopkins-Like Syndrome 1	Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera...	OMIM:610042
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Natal tooth, Micrognathia, Large fontanelles, High palate, Pierre-...	OMIM:300373
Congenital Disorder Of Glycosylation, Type Iig	Anemia, Failure to thrive in infancy, Giant platelets, Thrombocytopenia	OMIM:611209
Schwartz-Jampel Syndrome	Elbow dislocation, Pursed lips, Micrognathia, Narrow mouth, Genu valgum, Hip contracture, Everted...	ORPHA:800
Mpi-Cdg	Hypoalbuminemia, Failure to thrive	ORPHA:79319
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Polydipsia	OMIM:619468
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Anteverted nares, Micrognathi...	ORPHA:163649
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Microcornea, Myopic astigmatism, Astigmatism, Aggressive behavior, Attention deficit hy...	OMIM:152950
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Small placenta, Postnatal growth retardation, Intrauterine growth reta...	ORPHA:73272
Chromosome 16Q22 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Postnatal growth retardation, Micrognathia, Wormian bo...	OMIM:614541
Alpha-Mannosidosis, Adult Form	Ataxia, Cataract, Depression, Confusion, Hepatosplenomegaly, Pancytopenia, Corneal opacity	ORPHA:309288
Wilson Disease	Depression, Failure to thrive, Kayser-Fleischer ring, Difficulty walking, Splenomegaly, Increased...	ORPHA:905
Marburg Hemorrhagic Fever	Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra...	ORPHA:99826
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Depressed nasal bridge, Osteopenia, Postnatal growth retardation, Intrauterine growth retardation...	OMIM:614732
Female Restricted Epilepsy With Intellectual Disability	Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci...	ORPHA:101039
Cystinosis	Aminoaciduria, Polydipsia, Failure to thrive, Hypokalemia, Hypophosphatemia, Gait disturbance, Co...	ORPHA:213
Shprintzen-Goldberg Craniosynostosis Syndrome	Genu recurvatum, Osteopenia, Hypoplasia of the maxilla, Joint contracture of the hand, Dental mal...	OMIM:182212
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612926
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Generalized aminoaciduria, Failure to thrive, Hyperbilirubinemia, Splenomegaly, ...	OMIM:251880
Syngap1-Related Developmental And Epileptic Encephalopathy	Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Reduced social rec...	ORPHA:544254
Morquio Syndrome C	Corneal opacity	OMIM:252300
Momo Syndrome	Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip...	OMIM:157980
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Wide nasal bridge, Conical tooth, Dental malocclusion, Thick nasal alae, Persistence of primary t...	OMIM:618727
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Leukocytosis, Weight loss, Lung abscess, Anemia, Liver abscess	ORPHA:67
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612924
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Hypomagnesemia, Failure to thrive in infancy, Hypocalcemia, Autoimmune hemolytic...	ORPHA:37042
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Inability to walk, Short attention span, Exaggerated startle response, Irritability	OMIM:617864
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Ataxia, Failure to thrive, Hypocholesterolemia, Dysmetria, Thrombocytosis, Steat...	OMIM:212065
Osteogenesis Imperfecta	Carious teeth, Micrognathia, Large fontanelles, Genu valgum, Decreased skull ossification, Abnorm...	ORPHA:666
Mucolipidosis Iv	Progressive neurologic deterioration, Opacification of the corneal stroma, Corneal opacity	OMIM:252650
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Neonatal short-limb short stature, Wide anterior fontanel, Disproporti...	OMIM:259420
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Depressed nasal bridge, Hypoplasia of the maxilla, Coronal craniosyn...	OMIM:614188
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Confusion, Elevated circulating creatinine concentration, Reti...	OMIM:274150
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Failure to thrive, Steatorrhea	OMIM:602579
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Dental malocclusion, Genu valgum, Taurodontia...	OMIM:616202
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612925
Potocki-Shaffer Syndrome	Wide nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Wormian bones, Short p...	OMIM:601224
Hypothyroidism, Congenital, Nongoitrous, 6	Congenital hip dislocation, Delayed eruption of teeth, Wormian bones, Macroglossia, Growth delay	OMIM:614450
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci...	OMIM:207750
Chondrodysplasia Punctata, Autosomal Dominant	Moderate postnatal growth retardation, Epiphyseal stippling, Knee flexion contracture, Hip contra...	OMIM:118650
Wagro Syndrome	Cataract, Aniridia, Obesity, Emotional lability, Low frustration tolerance, Polyphagia, Aggressiv...	OMIM:612469
Sclerosteosis 1	Wide nasal bridge, Depressed nasal bridge, Tooth malposition, Dental malocclusion, Facial palsy s...	OMIM:269500
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Severe short stature, Unilateral cleft lip, Delayed cranial suture closure, Narrow nasal bridge, ...	ORPHA:2511
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Laron Syndrome	Hypercholesterolemia, Truncal obesity	ORPHA:633
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Wilson Disease	Hypouricemia, Hypoalbuminemia, Aminoaciduria, Sunflower cataract, Kayser-Fleischer ring, Hemolyti...	OMIM:277900
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Depression, Failure to thrive, Abnormal circulating thyroglobulin co...	ORPHA:90674
Noonan Syndrome 4	Depressed nasal bridge, Dental malocclusion, Cubitus valgus, Thick vermilion border, Short statur...	OMIM:610733
Robinow Syndrome	Flared nostrils, Tooth malposition, Ankyloglossia, Micrognathia, Marked delay in eruption of perm...	ORPHA:97360
Robinow Syndrome, Autosomal Dominant 3	Wide nasal bridge, Depressed nasal bridge, Cleft lip, Dental malocclusion, Downturned corners of ...	OMIM:616894
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Failure to thrive, Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirub...	OMIM:617093
Turnpenny-Fry Syndrome	Abnormality of the dentition, Dental malocclusion, Downturned corners of mouth, Dental crowding, ...	OMIM:618371
Cleidocranial Dysplasia	Carious teeth, Open bite, Micrognathia, Large fontanelles, Genu valgum, Decreased skull ossificat...	ORPHA:1452
Elsahy-Waters Syndrome	High palate, Wide nose, Hypoplasia of the maxilla, Impacted tooth, Bulbous nose, Thin upper lip v...	OMIM:211380
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity	ORPHA:1473
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level...	OMIM:301110
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Increased circulating NT-proBNP concentration, Weight loss,...	ORPHA:85443
Syndromic Diarrhea	Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Abnormality of iron homeosta...	ORPHA:84064
Fish-Eye Disease	Corneal opacity, Splenomegaly, Decreased HDL cholesterol concentration	ORPHA:79292
Stiff Person Spectrum Disorder	Difficulty walking, Falls, Emotional lability, Exaggerated startle response	ORPHA:3198
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Intrauterine growth retardation, Mi...	ORPHA:2050
Autosomal Recessive Cutis Laxa Type 2A	Congenital hip dislocation, Long philtrum, Delayed cranial suture closure, Persistent open anteri...	ORPHA:357058
Congenital Disorder Of Glycosylation, Type Iit	Hypotriglyceridemia, Astigmatism, Iron deficiency anemia, Decreased HDL cholesterol concentration...	OMIM:618885
Rubinstein-Taybi Syndrome 1	Delayed cranial suture closure, Postnatal growth retardation, Micrognathia, Narrow mouth, Patella...	OMIM:180849
Six2-Related Frontonasal Dysplasia	Depressed nasal bridge, Broad nasal tip, Absent/hypoplastic paranasal sinuses, Prominent palatine...	ORPHA:488437
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatosplenomegaly, Failure to thrive	ORPHA:367
Localized Scleroderma	Abnormality of the dentition, Abnormal facial skeleton morphology, Dental malocclusion, Abnormali...	ORPHA:90289
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormality of the ankle, Abnormal cortical bone morphology, Wormian bones, ...	ORPHA:970
Syndromic Recessive X-Linked Ichthyosis	Attention deficit hyperactivity disorder, Corneal opacity, Acute leukemia	ORPHA:281090
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Depressed nasal bridge, Postnatal growth retardation, Anteverted...	OMIM:613320
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Emotional lability, Recurrent corneal erosions, In...	OMIM:223900
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Dental malocclusion, Anteverted nares, Prominent nasal bridge, Proportionate short...	OMIM:227330
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hyperbilirubinemia, Lethargy, Hypertyrosi...	OMIM:617156
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Ataxia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Macroth...	OMIM:603585
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Hip contracture, Protrusio acetabuli, Osteopenia, Hypoplasia of the maxilla, Ankle ...	OMIM:259600
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Leukocytosis, Weight loss, Thrombocytopenia, Anemia	ORPHA:90060
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Joint contracture of the hand, Dental malocclusion, Micrognathia, Malar flattening, Camptodactyly	OMIM:608257
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Congenital Rubella Syndrome	Cataract, Splenomegaly, Aplasia/Hypoplasia of the iris, Thrombocytopenia, Corneal opacity, Anemia	ORPHA:290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Elevated circulating creatine kinase concentration	OMIM:613153
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas...	ORPHA:274
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Myopathy, Centronuclear, X-Linked	Flexion contracture, Dental malocclusion, High palate	OMIM:310400
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
Sialidosis Type 2	Ataxia, Splenomegaly, Corneal opacity	ORPHA:87876
Childhood Absence Epilepsy	Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior	ORPHA:64280
Dysbetalipoproteinemia	Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Hypercholest...	ORPHA:412
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Cerebellar-Facial-Dental Syndrome	Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Infancy onset short-trunk ...	ORPHA:444072
Harel-Yoon Syndrome	Ataxia, Inability to walk, Developmental cataract, Corneal opacity	OMIM:617183
Osteopetrosis, Autosomal Recessive 3	Dental malocclusion, Cranial hyperostosis, Osteopetrosis, Short stature, Diaphyseal sclerosis	OMIM:259730
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity	OMIM:608470
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Wide nasal bridge, Osteopenia, Abnormal temper tantrums, Dental malocclusion, Long philtrum, Micr...	ORPHA:73223
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Wide nasal bridge, Osteopenia, Fractured radius, Unilateral cleft lip, Intrauterine growth retard...	OMIM:616897
Osteopathia Striata-Cranial Sclerosis Syndrome	Wide nasal bridge, Severe short stature, High, narrow palate, Bifid uvula, Coarse metaphyseal tra...	ORPHA:2780
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Osteogenesis Imperfecta, Type Xx	Narrow palate, Disproportionate short-limb short stature, Retrognathia, Bulbous nose, Intrauterin...	OMIM:618644
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Obesity, Hypercholesterolemia, Small for gestational age, Truncal obesity	ORPHA:96184
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Cockayne Syndrome A	Carious teeth, Dental malocclusion, Limitation of joint mobility, Prominent nose, Intrauterine gr...	OMIM:216400
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Congenital hip dislocation, Long philtrum, Bulbous nose, Intrauterine growth retardat...	OMIM:612940
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Lethargy, Tong...	OMIM:608643
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Progressive neurologic deterioration, Hyperalaninemia, Failure to thrive	OMIM:618329
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Small for gestational age	OMIM:616733
Erythrokeratodermia Variabilis	Cataract, Weight loss, Corneal opacity	ORPHA:317
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Polyphagia, Reduced social reciprocity	ORPHA:329249
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Memory impairment, Depression, Elevated circulating creatinine concentration, ...	ORPHA:247691
Idiopathic Congenital Hypothyroidism	Depressed nasal bridge, Large posterior fontanelle, Delayed cranial suture closure, Umbilical her...	ORPHA:95717
Xfe Progeroid Syndrome	Hypoalbuminemia, Corneal scarring, Cachexia, Failure to thrive	OMIM:610965
Mandibuloacral Dysplasia With Type B Lipodystrophy	Growth delay, Dental crowding, Delayed cranial suture closure, Progressive clavicular acroosteoly...	OMIM:608612
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Umbilical hernia, Intrauterine growth retardation, Narrow mouth, Larg...	OMIM:219150
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Cataract, Hypoplasia of the iris, Ataxia, Opacification of the corneal stroma, S...	OMIM:251300
Holoprosencephaly 9	Hypoplasia of the premaxilla, Bilateral cleft palate, Short hard palate, Short nose, Choanal atre...	OMIM:610829
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Cornea Plana 2, Autosomal Recessive	Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Carious teeth, Natal tooth, Patellar dislocation, Motor stereotypy, Self-injurious behavior, Hypo...	ORPHA:353281
Martin-Probst Syndrome	Wide nasal bridge, Dental malocclusion, Thick lower lip vermilion, Umbilical hernia, Micrognathia...	OMIM:300519
Barber-Say Syndrome	Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Underdeveloped nasal a...	OMIM:209885
Cockayne Syndrome B	Severe short stature, Carious teeth, Dental malocclusion, Limitation of joint mobility, Postnatal...	OMIM:133540
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Subependymal Nodular Heterotopia	Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele	ORPHA:101030
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Aggressive behavior, Leuko...	OMIM:310600
Alg12-Cdg	Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Hyponatremia, Thrombocytopenia, B lympho...	ORPHA:79324
Osteogenesis Imperfecta, Type Xiii	Dentinogenesis imperfecta, Long philtrum, Increased bone mineral density, Umbilical hernia, Joint...	OMIM:614856
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Flared nostrils, Wide nasal bridge, Dental malocclusion, Downturned corners of mouth, Long philtr...	ORPHA:487796
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Craniosynostosis 2	Unicoronal synostosis, Cleft soft palate, Bicoronal synostosis, Wormian bones, Metopic synostosis...	OMIM:604757
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Increased C-peptide level, Failure to thrive, Hypertriglyceridemia	ORPHA:528
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Aplasia of the nasal bon...	ORPHA:93357
Brittle Cornea Syndrome 2	Keratoconus, Corneal perforation, Megalocornea, Gait disturbance, Keratoglobus, Sclerocornea, Fla...	OMIM:614170

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