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Gene: Twsg1 MGI:2137520

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
twisted gastrulation BMP signaling modulator 1
Synonyms:
Tsg,  D17Ertd403e,  1810013J15Rik,  9030422N06Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

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 Twsg1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Twsg1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Decreased response to growth ho... OMIM:147250
Microphthalmia, Syndromic 12
Anophthalmia, Intestinal malrotation, Micrognathia, Broad nasal tip, Cryptorchidism, Wide nasal b... OMIM:615524
Holoprosencephaly 3
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... OMIM:142945
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Failure of eruption of permanent teeth, Cryptorchidism, Submucous cleft hard palate... ORPHA:2250
Holoprosencephaly 9
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... OMIM:610829
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Exaggerated cupid's bow, Depressed nasal bridge, Micrognathia,... ORPHA:261120
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Autoimmune thromb... OMIM:614470
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia involving the nose, Cyclopia, Absent nares,... ORPHA:990
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Death ... OMIM:619644
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Anophthalmia, Choanal atresia, Spina bifida, Hypertelorism, Ab... ORPHA:1104
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Chorioretinal coloboma, Microphthalmia, ... OMIM:611638
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Death in infancy, Depressed nasal bridge, Short neck, Micrognathia, Narrow mouth, Cryptorchidism,... OMIM:618766
Felty Syndrome
Hepatomegaly, Pericarditis, Recurrent respiratory infections, Thrombocytopenia, Splenomegaly, Lim... ORPHA:47612
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infection, Decreased circulating IgG2 lev... OMIM:615897
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi... OMIM:619281
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Recurrent respiratory infections, Failure to thrive in infancy, ... OMIM:619510
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Osteopenia, Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Usual interstitial pneumo... OMIM:614742
Immunodeficiency 15B
Death in infancy, Failure to thrive, Decreased circulating antibody level, Agammaglobulinemia, Mo... OMIM:615592
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia, Recurr... OMIM:615615
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased... OMIM:618986
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Retinal telangiectasia, Tremor, Abnormal pyramidal sign, Intestinal bleeding, Intraut... OMIM:612199
Proboscis Lateralis
Anophthalmia, Single naris, Orofacial cleft, Abnormality of the maxillary sinus, High palate, Cho... ORPHA:141099
Fryns Microphthalmia Syndrome
Anophthalmia, Bilateral cleft lip and palate, Neural tube defect, Abnormality of the vertebral co... OMIM:600776
Holoprosencephaly
Anophthalmia, Short neck, Deep philtrum, Depressed nasal ridge, Abnormal form of the vertebral bo... ORPHA:2162
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Nar... OMIM:614669
Intellectual Developmental Disorder, Autosomal Dominant 26
Prominent nasal tip, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypertelorism, Kypho... OMIM:615834
Whistling Face Syndrome, Recessive Form
Prominent nasal bridge, Kyphoscoliosis, Micrognathia, Short neck, Trismus, Whistling appearance, ... OMIM:277720
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus OMIM:600121
Aspergillosis
Osteomyelitis, Eosinophilia, Pneumonia, Dacryocystitis, Hypersensitivity pneumonitis, Increased c... ORPHA:1163
Congenital Myopathy 16
Lumbar hyperlordosis, Spinal rigidity, Micrognathia, Prominent nasolabial fold, High palate, Scol... OMIM:618524
Cerebrooculonasal Syndrome
Low-set, posteriorly rotated ears, Anophthalmia, Hypertelorism, Abnormal tragus morphology, High ... ORPHA:66625
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia, Finger syndactyly, Radioulnar synostosis, Hip dysplasia, Clinod... ORPHA:71289
Microform Holoprosencephaly
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Choanal atresia, Midnasal sten... ORPHA:280200
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Abnormal form of the vertebral bodies, Thin vermilion border, ... ORPHA:2370
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Paraplegia,... ORPHA:79124
Oculoauriculofrontonasal Syndrome
Encephalocele, Wide nose, Micrognathia, Hypertelorism, Cleft lip, Underdeveloped nasal alae, Bifi... ORPHA:398156
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Abnormal spaced incisors, Anteverted nares, Prominent nasal bridge, Broad nasal tip... ORPHA:411986
Warburg Micro Syndrome 1
Anteverted nares, Kyphoscoliosis, Micrognathia, Cryptorchidism, Wide nasal bridge, Deeply set eye... OMIM:600118
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Short neck, Cleft upper lip, Depressed nasa... OMIM:613885
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Nodular pattern on pulmonary HRCT, Follicular hyperpl... ORPHA:60026
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose ORPHA:1355
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Myoclonus, Intention tremor, Erlen... OMIM:610539
Holoprosencephaly-Postaxial Polydactyly Syndrome
Low-set, posteriorly rotated ears, Encephalocele, Hypoplasia of the premaxilla, Intestinal malrot... ORPHA:2166
Arthrogryposis, Distal, Type 1C
Pursed lips, Short neck, Cleft lip, Cryptorchidism, Increased nuchal translucency, Cleft palate, ... OMIM:619110
Anencephaly 2
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Bifid nose, Median c... OMIM:619452
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Micrognathia, Short ... ORPHA:1703
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Dyskeratosis Congenita, Autosomal Dominant 3
Urethral stricture, Pancytopenia, Aplastic anemia, Short stature, Ataxia, Avascular necrosis of t... OMIM:613990
Thrombocytopenia 2
Leukocytosis, Bruising susceptibility, Thrombocytopenia OMIM:188000
Pierpont Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Wide nasal ridge, Uplifted earlobe, Short nec... ORPHA:487825
Niemann-Pick Disease, Type B
Hepatomegaly, Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Short ... OMIM:607616
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Retrognathia, High palate, Narrow mouth ORPHA:2528
17P13.3 Microduplication Syndrome
Wide nose, Hypertelorism, Short neck, High palate, Low-set ears, Narrow mouth, Short nose ORPHA:217385
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Gait disturbance, Holoprosencephaly, Scoliosis, Thoracic hemivertebrae,... ORPHA:1445
Arthrogryposis, Distal, Type 2E
Absent antihelix, Trismus, Narrow mouth, Micrognathia OMIM:121070
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Short neck, Microg... ORPHA:2015
Multicentric Reticulohistiocytosis
Arthritis, Cachexia, Histiocytosis ORPHA:139436
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Tuberculosis
Weight loss ORPHA:3389
Mixed Connective Tissue Disease
Xerostomia, Leukopenia, Nephropathy, Prolonged bleeding time, Hemolytic anemia, Hepatomegaly, Med... ORPHA:809
Hydrolethalus
Low-set, posteriorly rotated ears, Anophthalmia, Micrognathia, Cryptorchidism, Submucous cleft ha... ORPHA:2189
Charlie M Syndrome
Micrognathia, Hypertelorism, Non-midline cleft lip, Wide nasal bridge, Tooth agenesis, Thin vermi... ORPHA:1406
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Depressed nasal bridge, Clef... ORPHA:261236
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Decreased circula... OMIM:618394
Alazami-Yuan Syndrome
Thin upper lip vermilion, Dental crowding, Prominent nasal bridge, Prominent nose, Underdeveloped... OMIM:617126
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma OMIM:616428
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Pulmonary Blastoma
Weight loss ORPHA:64741
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormal vertebral morphology, Ataxia OMIM:618709
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Claw hand deformity, Scoliosis, Paralysis OMIM:605285
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, Perianal abscess, Cryptorchidism... OMIM:612541
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Decreased response to growth hormone stimulation test, Myocardial infarction, Over... ORPHA:457240
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Congenital Amegakaryocytic Thrombocytopenia
Short stature, Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Anemia, Sc... ORPHA:3319
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinoph... ORPHA:486
Xk Aprosencephaly Syndrome
Abnormal nostril morphology, Hypotelorism, Narrow mouth, Microphthalmia, Anal atresia ORPHA:3469
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, We... ORPHA:133
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Proteinuria, Failure to thrive, Cach... ORPHA:77297
Holoprosencephaly-Caudal Dysgenesis Syndrome
Median cleft lip, Hypertelorism, Cleft palate, Proptosis, Low-set ears, Cyclopia ORPHA:2165
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... OMIM:617241
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Failure to thrive, Joint stiffness, Raynaud phenomenon, Increas... OMIM:615934
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Hepatomegaly, Short stature, Kyphoscol... OMIM:614727
Dyskeratosis Congenita, Autosomal Dominant 2
Urethral stricture, Pancytopenia, Aplastic anemia, Short stature, Dilated cardiomyopathy, Osteopo... OMIM:613989
Otodental Syndrome
Lens coloboma, Periodontitis, Abnormal dental pulp morphology, Iris coloboma, Anteverted nares, A... ORPHA:2791
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Trisomy 18
Microretrognathia, Low-set, posteriorly rotated ears, Choanal atresia, Spina bifida, Hyperteloris... ORPHA:3380
Trisomy 13
Anophthalmia, Median cleft lip, Abnormality of the dentition, High, narrow palate, Kyphosis, Sens... ORPHA:3378
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Thin upper lip vermilion, Hypertelorism, Prominent nose, Micrognathia, Broad nasal tip, Narrow mo... OMIM:617755
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Abnormality of the nose, Whistling appearance, P... ORPHA:1150
Hypophosphatasia, Infantile
Micromelia, Bowing of the legs, Intracranial hemorrhage, Nephrocalcinosis, Unossified vertebral b... OMIM:241500
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Death in infancy, Abnormality of the spleen, Splenomegaly, Flexion co... ORPHA:85212
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Renal insufficiency, Dysuria, Ataxia, Retroperiton... ORPHA:35687
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Micrognathia, Submucous cleft ha... OMIM:301043
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Micrognathia, Hypertelorism, Broad nasal tip, Cleft palate, Abnormality of the v... OMIM:239800
Autism Spectrum Disorder Due To Auts2 Deficiency
Prominent nasal tip, Anteverted nares, Micrognathia, Hypertelorism, Kyphosis, Cryptorchidism, Wid... ORPHA:352490
Eiken Syndrome
Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morphology, Epiph... ORPHA:79106
Pierpont Syndrome
Wide nose, Posteriorly rotated ears, Short neck, Hypertelorism, Cryptorchidism, Broad nasal tip, ... OMIM:602342
Stevenson-Carey Syndrome
Prominent nasal tip, Posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Pierr... OMIM:611961
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Gaucher Disease Type 1
Osteopenia, Osteoarthritis, Leukopenia, Biliary tract obstruction, Hepatomegaly, Increased bone m... ORPHA:77259
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Absent platelet dense granules, Epicanthus, Hepatomegaly, Reduced natura... OMIM:608233
2Q24 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Short neck, Hypertelorism, Cleft palate, Coloboma, Abnormal or... ORPHA:1617
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Immune Thrombocytopenia
Abnormal bleeding, Thrombocytopenia OMIM:188030
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Congestive heart failure, Death in adolescence, Short long bone, Stillb... OMIM:619751
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Micrognathia, Low posterior hairline, Downturned corners of mo... ORPHA:1895
Pseudotrisomy 13 Syndrome
Encephalocele, Posteriorly rotated ears, Cleft upper lip, Cryptorchidism, Hemivertebrae, Hypotelo... OMIM:264480
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis, Scoliosis ORPHA:640
Forsythe-Wakeling Syndrome
Short stature, Osteoporosis, Growth delay, Nephrotic syndrome, Decreased body weight, Thrombocyto... OMIM:613606
Sonoda Syndrome
Depressed nasal bridge, Narrow mouth OMIM:270460
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Abnormal lung morphology, Abnormal femur morphology, Abnormal form of the ve... ORPHA:464329
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Abnormal pinna morphology, Short neck, Hypertelorism, Orofacial cleft, ... OMIM:614583
Mirage Syndrome
Intracranial hemorrhage, Leukopenia, Microphallus, Aspiration pneumonia, Hypospadias, Short statu... OMIM:617053
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Perianal abscess, Splenomegaly, Lym... OMIM:618935
Burn-Mckeown Syndrome
Mandibular prognathia, Choanal atresia, Prominent nasal bridge, Cleft upper lip, Micrognathia, Hy... OMIM:608572
Hamel Cerebro-Palato-Cardiac Syndrome
Death in infancy, Micrognathia, Bulbous nose, Cupped ear, Wide nasal bridge, Cleft palate, Narrow... ORPHA:93946
Bardet-Biedl Syndrome 7
Depressed nasal bridge, Hypertelorism, Deeply set eye, Narrow mouth, Malar flattening OMIM:615984
Meier-Gorlin Syndrome 8
Micrognathia, Bilateral cryptorchidism, Microtia, Thick vermilion border, Low-set ears, Narrow mouth OMIM:617564
Pulmonary Hemosiderosis
Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis OMIM:178550
Auriculocondylar Syndrome 1
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Nar... OMIM:602483
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Metaphyseal chondrodysplasia, Agammaglobulinemia, Hypoplasia of the thymus, Death in childhood, L... OMIM:200900
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Death in infancy, Micrognathia, Protruding ear, Narrow mouth, Short nose, Abnormal palate morphology ORPHA:1495
Primary Myelofibrosis
Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Port... ORPHA:824
Aredyld Syndrome
Craniofacial hyperostosis, Hepatomegaly, Short stature, Cachexia, Splenomegaly, Abnormality of th... ORPHA:1133
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Vertebral fusion, Anteverted nares, Optic nerve hypopla... OMIM:615583
20P12.3 Microdeletion Syndrome
Depressed nasal bridge, Hypertelorism, Hypoplasia of the maxilla, Wide nasal bridge, Microtia, Na... ORPHA:261295
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... ORPHA:1328
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly... ORPHA:100024
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypertelorism, Hypoplasia of the m... ORPHA:1529
Developmental And Epileptic Encephalopathy 70
Hypertelorism, Cryptorchidism, Narrow mouth, Low-set ears, Scoliosis OMIM:618298
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Interstiti... OMIM:127550
Schimke Immunoosseous Dysplasia
Osteopenia, Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Thoracic kyphosis, ... OMIM:242900
Acromicric Dysplasia
Anteverted nares, Ovoid vertebral bodies, Narrow mouth, Deep philtrum, Thick lower lip vermilion,... OMIM:102370
Diffuse Alveolar Hemorrhage
Proteinuria, Thrombocytopenia, Leukocytosis, Weight loss, Hematuria, Pulmonary venous hypertensio... ORPHA:90060
Alazami Syndrome
Wide nose, Depressed nasal bridge, Wide nasal bridge, Wide mouth, Deeply set eye, Retractile test... OMIM:615071
Tetraamelia Syndrome 1
Choanal atresia, Cleft upper lip, Micrognathia, Single naris, Cleft palate, Adrenal gland agenesi... OMIM:273395
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Portal hypertension, Cryptorchidism, Anemia, Pulmonary fibrosis, Emphysema, Lymphopen... OMIM:620365
Orofaciodigital Syndrome Xix
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Underf... OMIM:620107
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... OMIM:619598
Chromosome 4Q21 Deletion Syndrome
Hypertelorism, Narrow mouth, Sensorineural hearing impairment, Downturned corners of mouth, Short... OMIM:613509
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Portal hypertension, Nodular regenerative hyperplasia of liver, Abnormal pleura morphology, Hepat... ORPHA:210136
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Recurrent upper respiratory tract infections, Abnormal pulmonary ... OMIM:613101
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Short neck, Narrow mouth, Hypertelorism, Macrotia, Wide nasal bridge, Narrow palate... OMIM:620250
Oculocerebrocutaneous Syndrome
Anophthalmia, Cleft ala nasi, Cryptorchidism, Orbital encephalocele, Cleft palate, Microphthalmia OMIM:164180
Autism, Susceptibility To, X-Linked 6
Underdeveloped nasal alae, Short philtrum, Narrow mouth OMIM:300872
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrh... ORPHA:3260
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Osteomyelitis, Neutrophilia, Abscess, Failure to thrive in infancy, Spl... OMIM:612852
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Frontonasal Dysplasia 1
Median cleft lip, Hypertelorism, Hypoplasia of the maxilla, Broad nasal tip, Bifid nasal tip, Hyp... OMIM:136760
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... ORPHA:2688
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil coun... ORPHA:3226
Gaucher Disease
Osteopenia, Joint dislocation, Tremor, Osteoarthritis, Cherry red spot of the macula, Abnormal bl... ORPHA:355
Freeman-Sheldon Syndrome
Abnormality of the dentition, Hypertelorism, Narrow mouth, Cryptorchidism, Underdeveloped nasal a... ORPHA:2053
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Short neck, Neutropenia, Nephropathy, Intrauterine growth retardation, ... ORPHA:1830
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Death in infancy, Failure to thrive, Autoimmune thr... OMIM:617514
Lethal Osteosclerotic Bone Dysplasia
Posteriorly rotated ears, Anteverted nares, Micrognathia, Short neck, Depressed nasal ridge, Ging... ORPHA:1832
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Attached earlobe, Sacral dimple, Low-set, posteriorly rotated ears, Anteve... ORPHA:1327
Braddock-Carey Syndrome 2
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory c... OMIM:619981
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Pneumothorax, Clubbing, Bronchiectasis, ... OMIM:612387
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Failure to thrive, Recurrent respiratory infections, Short... ORPHA:229717
Cofs Syndrome
Death in infancy, Short neck, Micrognathia, Abnormal nasal morphology, Sensorineural hearing impa... ORPHA:1466
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia, Hypertelorism, Sensorineural hearing impair... OMIM:615636
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Hip contracture, Epicanthus, Failure to thrive in infancy, Cachexia, Tapered finger, ... OMIM:616801
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Hepatomegaly, Joint dislocation, Recurrent respiratory infection... OMIM:620210
Keppen-Lubinsky Syndrome
Narrow nasal bridge, Tented upper lip vermilion, Abnormally large globe, Micrognathia, Underdevel... OMIM:614098
Cerebrooculofacioskeletal Syndrome 3
Low-set ears, Microphthalmia, Cleft palate, Micrognathia OMIM:616570
Frontoocular Syndrome
Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Narrow philtrum, Hypotelorism, Pr... OMIM:605321
Temtamy Syndrome
Convex nasal ridge, Micrognathia, Hypertelorism, Thick lower lip vermilion, Chorioretinal colobom... ORPHA:1777
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Median cleft lip, Orofacial cleft, Hypotelorism, Vertebral segmentation defec... ORPHA:3186
Myasthenic Syndrome, Congenital, 16
High palate, Periodic paralysis, Gait disturbance, Hyperlordosis OMIM:614198
Distal Deletion 13Q
Encephalocele, Anencephaly, Abnormal form of the vertebral bodies, Hypertonia, Holoprosencephaly,... ORPHA:1590
Weaver-Williams Syndrome
Protruding ear, Cleft palate, Narrow mouth ORPHA:3448
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Foam cells, Decreased circulating... OMIM:619802
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Low posterior hairline, Wide mouth, De... ORPHA:2429
Crisponi Syndrome
Death in infancy, Wide nose, Anteverted nares, Micrognathia, Kyphosis, High palate, Scoliosis, Na... ORPHA:1545
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage,... ORPHA:99931
Microphthalmia, Syndromic 13
Kyphoscoliosis, Anteverted ears, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Widely-sp... OMIM:300915
Keppen-Lubinsky Syndrome
Narrow nasal bridge, Tented upper lip vermilion, Abnormally large globe, Micrognathia, Underdevel... ORPHA:435628
Distal Duplication 6P
Sacral dimple, Prominent nasal bridge, Short neck, Micrognathia, Aplasia/Hypoplasia of the earlob... ORPHA:1745
Babesiosis
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Myocardial infarction, Clinodactyly of the 5... ORPHA:108
Sneddon Syndrome
Cerebral hemorrhage, Tremor, Decreased circulating total IgM, Hypertension, Ischemic stroke, Stro... OMIM:182410
Fibrodysplasia Ossificans Progressiva
Failure to thrive, Spinal rigidity, Limitation of joint mobility, Ectopic ossification in ligamen... ORPHA:337
Congenital Muscular Dystrophy Due To Lmna Mutation
Death in infancy, Cachexia, Hyperlordosis, Spinal rigidity, Congestive heart failure, Flexion con... ORPHA:157973
Semilobar Holoprosencephaly
Median cleft lip, Decreased response to growth hormone stimulation test, Proboscis, Sensorineural... ORPHA:220386
Alobar Holoprosencephaly
Median cleft lip, Decreased response to growth hormone stimulation test, Proboscis, Sensorineural... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Median cleft lip, Decreased response to growth hormone stimulation test, Proboscis, Sensorineural... ORPHA:93926
Lobar Holoprosencephaly
Median cleft lip, Decreased response to growth hormone stimulation test, Proboscis, Sensorineural... ORPHA:93924
Intellectual Developmental Disorder, Autosomal Dominant 21
Sacral dimple, Posteriorly rotated ears, Hypertelorism, Narrow mouth, Cryptorchidism, Cleft palat... OMIM:615502
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... ORPHA:444463
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Fetal Valproate Spectrum Disorder
Narrow mouth, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Long phi... ORPHA:1906
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Rigidity, Dystonia, Loss of ambulation, Int... OMIM:615010
2Q32Q33 Microdeletion Syndrome
Dental crowding, Anteverted nares, Prominent nasal bridge, Micrognathia, Convex nasal ridge, Clef... ORPHA:251019
Flat Face-Microstomia-Ear Anomaly Syndrome
Low-set, posteriorly rotated ears, Abnormal oral mucosa morphology, Micrognathia, Long nose, High... ORPHA:1968
Acromicric Dysplasia
Anteverted nares, Ovoid vertebral bodies, Narrow mouth, Bulbous nose, Thick lower lip vermilion, ... ORPHA:969
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Vertebral c... OMIM:230800
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Hypertonia, Hepatic fibrosis, Ecchymosis, Paralysis, Hepatosplenomegal... ORPHA:2072
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... OMIM:147891
Microphthalmia With Limb Anomalies
Sacral dimple, Anophthalmia, Posteriorly rotated ears, Unilateral cryptorchidism, Depressed nasal... OMIM:206920
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Trisomy 1Q
Microretrognathia, Wide nose, Anophthalmia, Depressed nasal bridge, Hypertelorism, Cryptorchidism... ORPHA:261344
Holoprosencephaly, Semilobar, With Craniosynostosis
Hypoplastic vertebral bodies, Coronal craniosynostosis, Lambdoidal craniosynostosis, Semilobar ho... OMIM:601370
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormal vertebral morphology, Restricted large joint movement ORPHA:163665
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Short neck, Micrognathia, Hypertelorism, Wide nasal bridge, Abnormal antih... ORPHA:1438
Braddock Syndrome
Epicanthus, Short stature, Unilateral renal agenesis, Short neck, Preaxial hand polydactyly, Hemi... ORPHA:52047
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Pulmonary fibros... OMIM:619767
Interstitial Lung Disease 2
Clubbing of fingers, Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fib... OMIM:178500
Mucopolysaccharidosis-Plus Syndrome
Short neck, Metaphyseal widening, Flexion contracture, Synophrys, Leukopenia, Macrovesicular hepa... OMIM:617303
Specific Granule Deficiency 2
Osteopenia, Absent neutrophil specific granules, Death in infancy, Sandal gap, Recurrent pneumoni... OMIM:617475
Cerebrooculonasal Syndrome
Anophthalmia, Downturned corners of mouth, High palate, Conductive hearing impairment, Iris colob... OMIM:605627
Catel-Manzke Syndrome
Cleft upper lip, Micrognathia, Short neck, Hypertelorism, Pierre-Robin sequence, Cryptorchidism, ... OMIM:616145
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Cirrhosis, Pulmonary fibros... OMIM:614743
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Open bite, Vertebral cl... ORPHA:1248
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Arachnodactyly, Short stature, Microcytic anemia, Abnormal pulmonary interstit... OMIM:619013
Osteoarthritis With Mild Chondrodysplasia
Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl... OMIM:604864
Roifman Syndrome
Delayed proximal femoral epiphyseal ossification, Clinodactyly of the 5th finger, Short stature, ... ORPHA:353298
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short neck, Micrognathia, Hypertelorism, Wide nasal bridge, Downturned corners of mouth, Platyspo... ORPHA:93267
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Hearing imp... OMIM:120433
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl... ORPHA:169802
Holoprosencephaly 2
Aplasia of the nasal bone, Aplasia of the premaxilla, Cyclopia, Remnants of the hyaloid vascular ... OMIM:157170
Propionic Acidemia
Hepatomegaly, Pancytopenia, Dystonia, Increased level of hippuric acid in urine, Short stature, T... OMIM:606054
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Subcutaneous hemorrhage, Abnormality of the liver, Intrauterine growth retardation,... ORPHA:1980
Thanatophoric Dysplasia Type 2
Encephalocele, Kyphosis, Hydrocephalus, Limitation of joint mobility, Joint hyperflexibility, Pla... ORPHA:93274
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Growth delay, Pulmonary fibrosis, S... OMIM:615704
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypertelorism, Hypoplasia of the maxilla, Sensorineural hearing impairmen... OMIM:122880
Pontocerebellar Hypoplasia, Type 15
Death in infancy, Chronic neutropenia, Spastic tetraplegia, Anemia, Hypertonia, Dystonia, Thrombo... OMIM:619302
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... OMIM:273800
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... OMIM:615285
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria, Thrombocytopenia, Intrauterine growth retardation OMIM:189800
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Short neck, Tremor, Synophrys, Hyperhidrosis, Short palm, Clinodactyly of th... ORPHA:85293
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Bresek Syndrome
Decreased testicular size, Aganglionic megacolon, Optic nerve hypoplasia, Convex nasal ridge, Cry... ORPHA:85284
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Prominent nasal bridge, Carious teeth, Thick lower lip vermilion, Narrow palate, Deeply set eye, ... ORPHA:457365
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Chronic neutropenia, Spastic tetraplegia, Hypertonia, Dystonia, Thrombocytopenia OMIM:619301
Cockayne Syndrome Type 2
Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Hearing impairment, Kypho... ORPHA:90322
Niemann-Pick Disease, Type C2
Hepatomegaly, Death in infancy, Dystonia, Ataxia, CNS foam cells, Bone-marrow foam cells, Splenom... OMIM:607625
3Q27.3 Microdeletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Slender nose, Dental crowding, Kyphoscoliosis, D... ORPHA:397695
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Sparse eyelashes, Osteoporosis, Nasolacrimal duct obstruction, Hep... OMIM:224230
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Anteverted nares, Cleft upper lip, Short neck, Hypertelorism, Sensorine... OMIM:243310
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... ORPHA:79126
Renpenning Syndrome
Mandibular prognathia, Decreased testicular size, Macrodontia, Prominent nose, High, narrow palat... ORPHA:3242
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Cryptorchidism, Orofacial cleft, Microphthalmia ORPHA:3434
Skin Creases, Congenital Symmetric Circumferential, 1
Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Short neck, Hypertelorism, Cleft ... OMIM:156610
Immunodeficiency 27A
Hypoplasia of the femoral head, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lympha... OMIM:209950
Amyotrophy, Hereditary Neuralgic
Depressed nasal bridge, Cleft palate, Hypotelorism, Deeply set eye, Low-set ears, Narrow mouth, L... OMIM:162100
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Anteverted nares, Hypertelorism, Depressed nasal ridge, Wide nasal ... ORPHA:2412
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia,... ORPHA:169079
Overlap Myositis
Subluxation of the small joints of the hand, Raynaud phenomenon, Abnormal pulmonary interstitial ... ORPHA:206572
Aicardi-Goutieres Syndrome 3
Dystonia, Hepatosplenomegaly, Death in childhood, Spasticity, Thrombocytopenia OMIM:610329
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Telecanthus, Proteinuria, Camptodactyly of finger, Cachexia, Wrist swelling, Limitation of joint ... ORPHA:2774
Crisponi/Cold-Induced Sweating Syndrome 1
Wide nose, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Carious teeth,... OMIM:272430
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Beaking of vertebral bodies, Depressed nasal br... ORPHA:137834
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Ataxia, Myocardial infarction, Cachexia,... ORPHA:3452
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Deep philtrum, Downturned corner... OMIM:619720
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho... OMIM:603909
Facial Clefting, Oblique, 1
Microphthalmia, Coloboma, Cleft palate, Cleft upper lip OMIM:600251
Christianson Syndrome
Death in early adulthood, Dystonia, Cachexia, Gait ataxia, Joint hyperflexibility, Truncal ataxia... ORPHA:85278
Congenital Factor Ii Deficiency
Abnormal bleeding, Prolonged bleeding after dental extraction, Epistaxis, Prolonged bleeding foll... ORPHA:325
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Rhizomelia, Thrombocytopenia OMIM:166990
Ohdo Syndrome
Anteverted nares, Depressed nasal bridge, Hearing impairment, Micrognathia, Cryptorchidism, Wide ... OMIM:249620
Maternal Uniparental Disomy Of Chromosome 9
Kyphoscoliosis, Short neck, Hamstring contractures, Failure to thrive, Abnormal vertebral morphol... ORPHA:96183
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, U... OMIM:257850
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Emphysema, Abnormal salivary gland morphology, Hepatomegaly, Mediast... OMIM:181000
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Metaphyseal dysplasia, Hepatomegaly, Recurrent respiratory infections, Rhizome... ORPHA:1842
Wt Limb-Blood Syndrome
Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Cryptorchidism, Ulnar... OMIM:194350
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Microvesicular hepatic steatosis, Hepatocellular necrosis, Death in childhood, Decr... OMIM:618278
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... ORPHA:137888
Amed Syndrome, Digenic
Acute myeloid leukemia, Telecanthus, Short stature, Anemia, Leukopenia, Bone marrow hypocellulari... OMIM:619151
8Q21.11 Microdeletion Syndrome
Wide nose, Exaggerated cupid's bow, Micrognathia, Abnormality of the dentition, Short neck, Hyper... ORPHA:284160
Periventricular Nodular Heterotopia 7
Microretrognathia, Dental crowding, Anteverted nares, Micrognathia, Hypertelorism, Cryptorchidism... OMIM:617201
Tonne-Kalscheuer Syndrome
Prominent nasal bridge, Convex nasal ridge, Micrognathia, Hypertelorism, Cryptorchidism, Velophar... OMIM:300978
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Bronchitis, Enuresis nocturna, Poor han... ORPHA:420741
46,Xx Gonadal Dysgenesis
Osteopenia, Streak ovary, Arachnodactyly, Short stature, Ataxia, Increased circulating gonadotrop... ORPHA:243
Acute Myelomonocytic Leukemia
Abnormal bleeding, Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Luo-Schoch-Yamamoto Syndrome
Wide nose, Abnormal pinna morphology, Anteverted nares, Depressed nasal bridge, Hypertelorism, Wi... OMIM:619460
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Thin upper lip vermilion, Hypertelorism, Prominent nose, Oligodontia, Hypodontia, Narrow mouth, M... OMIM:618092
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Hypertelorism, Narrow mouth, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Short ph... OMIM:617333
Simosa Craniofacial Syndrome
Posteriorly rotated ears, Abnormal pinna morphology, Underdeveloped nasal alae, Long nose, High, ... OMIM:182150
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Exaggerated cupid's bow, Prominent nasal bridge, Hearing impairment, Micrognathia, Hypertelorism,... OMIM:618659
Clark-Baraitser Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Depressed nasal bridge, Hype... OMIM:617752
Lambotte Syndrome
Hypertelorism, Retrognathia, Atresia of the external auditory canal, Narrow mouth, Macrotia, Conv... OMIM:245552
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocyto... OMIM:619164
Roifman Syndrome
Irregular vertebral endplates, Clinodactyly of the 5th finger, Hepatomegaly, Short metacarpal, Sh... OMIM:616651
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Depressed nasal bridge, Micrognathia, Progressive hearing impairment, ... OMIM:613849
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Esophageal atresia, Hydrocephalus, Hemivertebrae, Tracheoesophageal fistula, Ho... ORPHA:77298
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... ORPHA:906
Triploidy
Low-set, posteriorly rotated ears, Intestinal malrotation, Micrognathia, Short neck, Hyperteloris... ORPHA:3376
Folate Malabsorption, Hereditary
Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Failure to th... OMIM:229050
Immunodeficiency, Common Variable, 8, With Autoimmunity
Generalized lymphadenopathy, Conjunctivitis, Decreased circulating IgG level, Hypothyroidism, Aut... OMIM:614700
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Cardiogenic shock, I... ORPHA:449285
Trisomy 17P
Wide nose, Micrognathia, Short neck, Hypertelorism, Prominent nose, Orofacial cleft, Cleft palate... ORPHA:261290
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Dystonia, Splenomegaly, Anemia, Cardiomyopathy, Choreoathetosi... ORPHA:79312
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Eosinophilia, Pneumonia, Splenomega... OMIM:226990
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Tongue fasciculations, Narrow mouth OMIM:620007
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Joubert Syndrome 37
Wide nose, Lumbar hyperlordosis, Posteriorly rotated ears, Anteverted nares, Hypertelorism, Crypt... OMIM:619185
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Hydrocephalus, Flexion contracture, Vocal cord paralysis, Babinski sign, Hand tr... ORPHA:99947
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia ... ORPHA:75564
Otodental Dysplasia
Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Sensorineural hearing impairme... OMIM:166750
Raine Syndrome
Mandibular prognathia, Micrognathia, Short neck, Protruding ear, High palate, Choanal stenosis, N... OMIM:259775
Split-Hand/Foot Malformation 3
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Cleft palate, High palat... OMIM:246560
Ataxia-Pancytopenia Syndrome
Pancytopenia, Ataxia, Babinski sign, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Ane... OMIM:159550
Idiopathic Achalasia
Weight loss ORPHA:930
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy... OMIM:607078
15Q24 Microdeletion Syndrome
Smooth philtrum, Depressed nasal bridge, Decreased response to growth hormone stimulation test, H... ORPHA:94065
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... ORPHA:98850
Intellectual Developmental Disorder, Autosomal Dominant 43
Attached earlobe, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Hypertelori... OMIM:616977
Lymphoid Interstitial Pneumonia
Hepatomegaly, Multiple pulmonary cysts, Raynaud phenomenon, Mediastinal lymphadenopathy, Respirat... ORPHA:79128
Cronkhite-Canada Syndrome
Hepatomegaly, Cachexia, Tapered finger, Splenomegaly, Anemia, Aplasia/Hypoplasia of the eyebrow ORPHA:2930
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Anteverted nares, Depressed nasal bridge, Hypertelorism, Deep philtrum, Sensorineural hearing imp... ORPHA:1825
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem... OMIM:308240
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Choanal atresia, Hypertelorism, Cleft palate, Abnormality ... ORPHA:1135
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bilateral ptosis, Achilles tendon contracture, Atelectasis, Right bundle branch block, Decreased ... ORPHA:254361
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Spinal canal ... OMIM:618624
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Pursed lips, Slender nose, Micrognathia, Short neck, Narrow mouth, Hypertelorism, Wide nasal brid... ORPHA:562528
Idiopathic Pulmonary Fibrosis
Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Clubbing of fingers, ... ORPHA:2032
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Coloboma OMIM:251505
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Chorea, Leukopenia, Mitral reg... OMIM:301080
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Anemia, Growth delay, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet functio... ORPHA:231393
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Abnormal intervertebral disk morphology, Short neck, Hyperteloris... ORPHA:85194
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, High palate, H... OMIM:609637
Immunodeficiency 19
Recurrent respiratory infections, T lymphocytopenia, Abnormal B cell morphology, Failure to thriv... OMIM:615617
Monosomy 18P
Kyphoscoliosis, Micrognathia, Carious teeth, Short neck, Wide nasal bridge, Cleft palate, Protrud... ORPHA:1598
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Thin upper lip vermilion, Wide nose, Anteverted nares, Kyphoscoliosis, Micrognathia, Short neck, ... ORPHA:391408
Tetrasomy 18P
Low-set, posteriorly rotated ears, Thin vermilion border, Scoliosis, Narrow mouth, Short nose, Lo... ORPHA:3307
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Failure to thrive, Absence of lymph node germinal center, Increased circulating IgE ... ORPHA:277
Arthrogryposis, Distal, Type 2B1
Mandibular prognathia, Micrognathia, Wide nasal bridge, Webbed neck, Prominent nasolabial fold, H... OMIM:601680
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Posteriorly rotated ears, Hypertelorism, Cleft lip, Cleft palate, Downturned corners of mouth, De... OMIM:618089
Spondylosis, Cervical
Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis OMIM:184300
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Hypoplasia of the thymus, Con... ORPHA:861
Acrofacial Dysostosis Syndrome Of Rodriguez
Posteriorly rotated ears, Micrognathia, Hypertelorism, Prominent nose, Wide nasal bridge, Deeply ... OMIM:201170
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad... OMIM:618048
Distal Monosomy 7Q36
Hypertonia, Holoprosencephaly, Cleft palate, Short neck ORPHA:1636
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kyphoscoliosis, Micrognathia, Hyperlordosis, Increased vertebral height, Sensorineural hearing im... OMIM:616817
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Recurrent sinopulmonary infections, Eosinophilia, Subarachnoid hemorrhage, I... OMIM:243700
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Short stature, Diffuse alveolar hemorrhage, Reduced natural kill... OMIM:616050
Marden-Walker Syndrome
Anteverted nares, Micrognathia, Short neck, High, narrow palate, Kyphosis, Hypertelorism, Cryptor... OMIM:248700
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Multiple joint contractures, Camptodactyly of finger, Short neck, Limitation of joint mobility, H... ORPHA:2570
Chromosome 9P Deletion Syndrome
Micrognathia, Short neck, High, narrow palate, Deep philtrum, High palate, Anteverted nares, Depr... OMIM:158170
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Anteverted nares, Ovoid vertebral bodies, Depressed nasal bridge, Micrognathia, Short neck, Hyper... ORPHA:163649
Wolman Disease
Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Growth delay, Adrenal insufficiency... ORPHA:75233
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormal tongue physiology, Anteverted ears, Wide mouth, Deeply set eye, Thin vermilion border, H... ORPHA:544254
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Dental crowding, Anteverted nares, Prominent nasal bridge, Hypertelori... OMIM:618825
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Thoracic scoliosis, Micrognathia, Prominent nose, Proptosis, Lumbar scoliosis, Microphthalmia OMIM:616171
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Wide nasal bridge, Cleft palate, Proptosis, Narrow mouth, Short nose, Intervertebra... OMIM:614078
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Short neck, Hypertelorism, Cleft lip, Deep philtrum, Bulbous nose, Wide nasal ... OMIM:618571
Lambert Syndrome
Wide mouth, Malar flattening, Branchial anomaly ORPHA:1296
Sarcoidosis
Heart block, Increased T cell count, Abnormal lung morphology, Ventricular tachycardia, Nephrocal... ORPHA:797
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Holoprosencephaly, Scoliosis, Anterior encephalocele OMIM:601357
Schwartz-Jampel Syndrome, Type 1
Pursed lips, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Micrognathia, Short neck, H... OMIM:255800
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Trisomy 18P
Abnormal pinna morphology, Micrognathia, Bilateral cryptorchidism, High, narrow palate, Pyloric s... ORPHA:1715
Frontonasal Dysplasia 3
Posteriorly rotated ears, Hypertelorism, Underdeveloped nasal alae, Wide nasal bridge, Cleft pala... OMIM:613456
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Dental crowding, Anteverted nares, Kyphoscoliosis, Hypertelorism, Hypoplas... OMIM:617402
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, O... OMIM:619356
Ring Chromosome 7 Syndrome
Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Prominent crus of helix, Wide na... ORPHA:1449
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemophagocytosis, ... OMIM:603552
Pelger-Huet Anomaly
Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platelets, Upp... OMIM:169400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Failure to thrive sec... OMIM:601457
Schwartz-Jampel Syndrome
Micromelia, Short neck, Coxa vara, Hypertonia, Wrist flexion contracture, Death in infancy, Incre... ORPHA:800
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Hartsfield Syndrome
Low-set, posteriorly rotated ears, Encephalocele, Depressed nasal bridge, Hypertelorism, Non-midl... ORPHA:2117
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Pancytope... OMIM:259700
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Micrognathia, Depressed nasal ridge, Wide mouth, Platyspondyly, Short philtrum,... ORPHA:163966
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal nasal morphology, Hypertelorism, Depressed nasal bridge, Narrow mouth ORPHA:83473
Spinocerebellar Ataxia 48
Ataxia, Urinary incontinence, Cachexia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, G... OMIM:618093
Chromosome 1Q41-Q42 Deletion Syndrome
Tented upper lip vermilion, Deep philtrum, Hypotelorism, Deeply set eye, Vertebral segmentation d... OMIM:612530
Neuralgic Amyotrophy
Cleft palate, Narrow mouth ORPHA:2901
Bone Marrow Failure Syndrome 5
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level,... OMIM:618165
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Posteriorly rotated ears, Anteverted nares, Wide mouth, Delayed eruption... OMIM:618506
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Hepatomegaly, Recurrent fractures, Splenomegaly,... OMIM:611490
Immunodeficiency 95
Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul... OMIM:619773
Limited Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Foot joint contracture, Narrow foramen obturatorium, Pulmonary fibros... ORPHA:220402
Immunodeficiency 102
Leukopenia, Decreased circulating IgG level, Hypothyroidism, Hepatomegaly, Partial absence of spe... OMIM:301082
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture... OMIM:202400
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Ohdo Syndrome, X-Linked
Micrognathia, Prominent nose, High palate, Widely spaced teeth, Microdontia, Depressed nasal brid... OMIM:300895
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Immunodeficiency 13
Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, B... OMIM:615518
Transcobalamin Deficiency
Decreased circulating IgG level, Pancytopenia, Methylmalonic aciduria, Decreased circulating anti... ORPHA:859
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Chorea, Choreoathetosis, Vesicoureteral reflux, Intention tremor, Hypoparathy... ORPHA:209905
Hernández-Aguirre Negrete Syndrome
Wide mouth, Bulbous nose, Deep philtrum, Low-set, posteriorly rotated ears ORPHA:2139
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Recurrent respiratory infections, Neutropenia OMIM:300988
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Abnormal left ventricular function, Leukopenia, Vesicoureteral reflux, Pulmonary artery atresia, ... OMIM:301056
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Thin upper lip vermilion, Macrodontia, Thoracolumbar scoliosis, Anteverted nares, Micrognathia, H... OMIM:618443
Schilbach-Rott Syndrome
Posteriorly rotated ears, Micrognathia, Prominent nose, Long nose, Submucous cleft hard palate, H... OMIM:164220
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Abnormality of the elb... ORPHA:98878
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Failure to thrive in infancy, Cervical lymphadenopathy, Decreas... OMIM:618987
Dyskeratosis Congenita, X-Linked
Hyperhidrosis, Leukopenia, Conjunctivitis, Pterygium, Hypospadias, Short stature, Ataxia, Cryptor... OMIM:305000
Microcephaly-Micromelia Syndrome
Wide nose, Short neck, Micrognathia, Cleft palate, Low-set ears, Narrow mouth, Neonatal death, Mi... OMIM:251230
Juvenile Amyotrophic Lateral Sclerosis
Urinary incontinence, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, Ata... ORPHA:300605
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... ORPHA:464321
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Short stature, Hyperlordosis, Tremor, Cryptorchidism, Limitation of joint mobility, ... ORPHA:1192
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate ORPHA:2432
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Sacral dimple, Redundant neck skin, Dental crowding, Anteverted nares, Depressed nasal bridge, Sh... OMIM:617157
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Wide nasal bridg... OMIM:224410
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati... ORPHA:397596
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Proteinuria, Ataxia, Thrombocytopenia, Macrothrombocytopenia, Aminoaciduria... OMIM:603585
Ataxia-Telangiectasia
Recurrent respiratory infections, Failure to thrive, Telangiectasia of the skin, Short stature, A... ORPHA:100
Developmental And Epileptic Encephalopathy 87
Hypertelorism, Prominent nose, Bulbous nose, Hypotelorism, Wide mouth, High palate, Widely spaced... OMIM:618916
Eosinophilia, Familial
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia OMIM:131400
Wilson Disease
Back pain, Hepatomegaly, Failure to thrive, Acute hepatitis, Splenomegaly, Jaundice, Increased bo... ORPHA:905
Distal Deletion 17Q
Low-set, posteriorly rotated ears, Abnormality of the philtrum, Hypertelorism, Aplasia/Hypoplasia... ORPHA:1597
Tularemia
Brain abscess, Tachycardia, Pneumonia, Mediastinal lymphadenopathy, Leukocytosis, Cervical lympha... ORPHA:3392
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Short stature, Ataxia, Splenomegaly, Myoclonus, Decreased body weight... OMIM:231000
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Cardiac arrest, Tremor, Splenomegal... ORPHA:99745
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Osteomyelitis, Short stature, Abnormality of the tonsils, ... ORPHA:47
Nizon-Isidor Syndrome
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Hyper... OMIM:618872
Spondyloenchondrodysplasia With Immune Dysregulation
Increased intervertebral space, Metaphyseal widening, T lymphocytopenia, Irregular vertebral endp... OMIM:607944
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Cryptorchidism, Pyloric stenos... ORPHA:96184
Neuropathy, Congenital Hypomyelinating, 3
Epicanthus, Limb joint contracture, Cachexia, Flexion contracture, Babinski sign, 2-3 toe syndact... OMIM:618186
Sweeney-Cox Syndrome
Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, High palate, Short philtrum, Median cle... OMIM:617746
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Micrognathia, Short neck, Glossoptosis, Vertebral segmentation defect, High p... OMIM:611209
Isovaleric Acidemia
Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Th... OMIM:243500
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, High palate, Alobar holoprosencephaly OMIM:615433
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Irregular dentition, Depressed nasal bridge, Hypertelorism, Microtia, Narrow mouth, Intestinal ly... OMIM:616006
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Cryptorchidism, Sensorin... ORPHA:1131
Refractory Anemia
Abnormal bleeding, Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, A... ORPHA:98826
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia... OMIM:607594
Shwachman-Diamond Syndrome 1
Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaphyseal irregularity, Co... OMIM:260400
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Myocardial inf... OMIM:155100
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Arachnodactyly, Cachexia, Joint stiffness ORPHA:1144
Leishmaniasis
Abnormal bleeding, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymp... ORPHA:507
Immunodeficiency 62
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Decrea... OMIM:618459
Chronic Hiccup
Weight loss ORPHA:396
Developmental Delay With Variable Neurologic And Brain Abnormalities
Wide nose, Anteverted nares, Micrognathia, Widely spaced teeth, Microdontia, Microphthalmia, Macr... OMIM:619694
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Immunodeficiency 11A
Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased... OMIM:615206
Asbestos Intoxication
Right ventricular failure, Mediastinal lymphadenopathy, Atelectasis, Pleural thickening, Abnormal... ORPHA:2302
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Prominent nasal bridge, Hypertelorism, Bilateral cryptorchidism, Sensorineur... OMIM:618652
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thrombocytopenia,... OMIM:102700
Gray Platelet Syndrome
Abnormal bleeding, Epistaxis, Abnormality of thrombocytes, Splenomegaly, Bruising susceptibility,... ORPHA:721
Multiple Epiphyseal Dysplasia Type 5
Back pain, Abnormal upper limb epiphysis morphology, Delayed proximal femoral epiphyseal ossifica... ORPHA:93311
Mcdonough Syndrome
Short stature, Cachexia, Cryptorchidism, Synophrys, Kyphosis, Scoliosis, Short palpebral fissure,... ORPHA:2471
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Pediatric-Onset Graves Disease
Abnormal eyelid morphology, Tremor, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Increased ... ORPHA:525731
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology, Sensorineural hearing impairment ORPHA:3225
Nance-Horan Syndrome
Mandibular prognathia, Prominent nasal bridge, Abnormality of the dentition, Prominent nose, Supe... ORPHA:627
Nablus Mask-Like Facial Syndrome
Short neck, Hypoplasia of the maxilla, High palate, Small earlobe, Anteverted nares, Depressed na... OMIM:608156
Subaortic Stenosis-Short Stature Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Short neck, Micrognathia, Kyphosis, Scoliosi... ORPHA:3191
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Rhabdoid Tumor
Cerebral palsy, Lymphadenopathy, Hematuria, Hypertension, Anemia, Weight loss, Neoplasm of the li... ORPHA:69077
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Spastic tetraplegia, Growth delay, Hypertonia, Decreased testicular size, T... OMIM:601815
Cog7-Cdg
Narrow mouth, Retrognathia, Short neck, Micrognathia ORPHA:79333
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... ORPHA:331206
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Abnormal pleura morphology, Limitation of joint mobility, Arthritis, Lymphopenia ORPHA:2582
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... ORPHA:331
Hermansky-Pudlak Syndrome 4
Abnormal bleeding, Absent platelet dense granules, Epistaxis, Menorrhagia, Pulmonary fibrosis, Br... OMIM:614073
Xq28 (MECP2) duplication
Depressed nasal bridge, Narrow mouth, Death in childhood, Malar flattening, Macrotia DECIPHER:45
Distal Arthrogryposis Type 1
Narrow mouth ORPHA:1146
Pseudo-Torch Syndrome 3
Death in infancy, Proteinuria, Cerebral hemorrhage, Lymphadenitis, Leukocytosis, Hypertension, Ac... OMIM:618886
Atelis Syndrome 1
Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Lumbar kyphosis, Anem... OMIM:620184
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Brucellosis
Liver abscess, Bronchitis, Chorea, Knee osteoarthritis, Hyperhidrosis, Leukopenia, Increased circ... ORPHA:1304
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Thoracic kyphoscoliosis, Decreased response to growth hormone stimulation test, Sensorineural hea... ORPHA:436174
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Brooke-Spiegler Syndrome
Salivary gland neoplasm, Abnormality of the neck, Abnormality of the sublingual glands, Abnormali... ORPHA:79493
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... OMIM:619846
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin upper lip vermilion, Redundant neck skin, Short lingual frenulum, Posteriorly rotated ears, ... OMIM:617360
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Exaggerated cupid's bow, Depressed nasal bridge, Supernumerary nipple, Hypertelorism, Cleft lip, ... OMIM:620098
Femoral-Facial Syndrome
Short femur, Maternal diabetes, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pel... ORPHA:1988
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Dystonia, Splenomegaly, Hepatosplenomegaly, Death in childhood, Intra... OMIM:610333
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Narrow mouth, Neonatal death, Microglossia, Retrognathia OMIM:227270
Interstitial Lung And Liver Disease
Hepatic steatosis, Hepatomegaly, Clubbing, Intraalveolar phospholipid accumulation, Cholestasis, ... OMIM:615486
Isaacs Syndrome
Weight loss ORPHA:84142
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Tremor, Inability to walk, Flexion contracture, Clumsiness, Hepatosplenomegaly, Ey... ORPHA:2590
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Congenital Disorder Of Glycosylation, Type Iy
Micrognathia, Wide mouth, Deeply set eye, Widely spaced teeth, Scoliosis, Macrotia OMIM:300934
19P13.13 Microdeletion Syndrome
Thin upper lip vermilion, Anteverted nares, Optic nerve hypoplasia, Depressed nasal bridge, Hyper... ORPHA:357001
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cryptorchidism, Sensorineural hearing impairment, High palate, Chorioretinal colobo... ORPHA:139471
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Al-Raqad Syndrome
Thin upper lip vermilion, Deeply set eye, Low-set ears, Narrow mouth, Short nose OMIM:616459
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Abnormally large globe, Hypoplasia of the maxilla, Micrognathia, Abnorm... ORPHA:363417
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Hepatomegaly, Pancytopenia, Epicanthus, Death in infancy, Impaired T cell func... OMIM:614576
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Arachnodactyly, Short stature, Cachexia, Short neck, Small hand, Elbow flexion c... ORPHA:371364
Congenital Rubella Syndrome
Hepatomegaly, Short stature, Splenomegaly, Patent ductus arteriosus, Jaundice, Spastic diplegia, ... ORPHA:290
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Hypertelor... ORPHA:228390
Nemaline Myopathy 2
Hyperlordosis, Spinal rigidity, Narrow mouth, Hypertelorism, Cleft palate, High palate, Scoliosis... OMIM:256030
Gombo Syndrome
Microphthalmia OMIM:233270
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
3-Methylglutaconic Aciduria, Type Viib
Tremor, Flexion contracture, Opisthotonus, Choreoathetosis, Leukopenia, Neutropenia, Hepatic stea... OMIM:616271
Glass Syndrome
Dental crowding, Posteriorly rotated ears, Anteverted nares, Conical tooth, Micrognathia, Long no... OMIM:612313
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Abnormally ossified vertebrae, Aplasia/Hypoplasia involving the nose, Micr... ORPHA:3301
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... ORPHA:231401
Sea-Blue Histiocyte Disease
Splenomegaly, Cirrhosis, Sea-blue histiocytosis, Foam cells, Thrombocytopenia OMIM:269600
Harrod Syndrome
Long nose, Kyphosis, Cryptorchidism, Dental malocclusion, Hypotelorism, Protruding ear, High pala... ORPHA:2115
Monosomy 9P
Micrognathia, Short neck, Anotia, High palate, Long philtrum, Anteverted nares, Depressed nasal b... ORPHA:261112
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth d... OMIM:301078
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Hyperlordosis, Micrognathia, Narrow palate, Low posterior hairline, Vertebral segmentation defect... ORPHA:1323
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... ORPHA:83469
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Renal insufficiency, Dystonia, Hemiplegia/hemiparesis, Chorea, Renal tubular dysfun... ORPHA:289916
Preeclampsia
Increased body mass index, Proteinuria, Small for gestational age, Chronic kidney disease, Elevat... ORPHA:275555
Gaucher Disease Type 3
Hepatomegaly, Increased bone mineral density, Pancytopenia, Proteinuria, Ataxia, Recurrent respir... ORPHA:77261
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulmonary HRCT, Flexion contr... ORPHA:333
Arthrogryposis, Distal, Type 1A
Trismus, Narrow mouth, Sensorineural hearing impairment, Cryptorchidism, Webbed neck, Low-set ear... OMIM:108120
Hypomandibular Faciocranial Dysostosis
Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Optic disc coloboma, Cleft ... ORPHA:1790
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Short stature, Rhizomelia, Decreased circulating antibody level... OMIM:618116
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Anteverted nares, Prominent nasal bridge, Uplifted earlobe, Protruding ear, Wide mouth, Prominent... OMIM:615722
Frontorhiny
Low-set, posteriorly rotated ears, Encephalocele, Lumbar hyperlordosis, Hypertelorism, Hypoplasia... ORPHA:391474
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Short femur, Micrognathia, Abnormal foot morphology, Osteoporosis,... ORPHA:94068
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss, Abnormality of the extraocular muscles, Macrovesicular hepatic steatosis, ... ORPHA:298
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... OMIM:259710
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Micrognathia, Non-... ORPHA:1915
Moderate Hemophilia A
Abnormal bleeding, Hip contracture, Epidural hemorrhage, Gastrointestinal hemorrhage, Arthropathy... ORPHA:169805
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Tubulointerstitial nephritis, Iron deficiency anemia, Neutropenia, Hypothyroidism, Hyperthyroidis... ORPHA:37042
Malan Overgrowth Syndrome
Optic disc hypoplasia, Depressed nasal bridge, Low posterior hairline, Deeply set eye, High palat... ORPHA:420179
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Genu valgum, Hypertension, Aminoaciduria, Pulmonary ... OMIM:618913
Cerebrooculofacioskeletal Syndrome 2
Kyphoscoliosis, Micrognathia, Prominent nose, Deeply set eye, Death in childhood, Microphthalmia,... OMIM:610756
Oculogastrointestinal Neurodevelopmental Syndrome
Sacral dimple, Low hanging columella, Bilateral microphthalmos, Hemivertebrae, Unilateral microph... OMIM:619318
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Intestinal malrotation, Prominent nasal bridge, Abnormality of the den... ORPHA:2712
Pelizaeus-Merzbacher Disease
Recurrent respiratory infections, Failure to thrive in infancy, Short stature, Cachexia, Joint st... ORPHA:702
Microphthalmia, Isolated 4
Microphthalmia, Absent testis, Coloboma OMIM:613094
Hunter-Mcalpine Craniosynostosis Syndrome
Downturned corners of mouth, Narrow mouth OMIM:601379
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... OMIM:614753
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Ptosis, Ataxia, Megaloblastic anemia, Trem... OMIM:222300
Thakker-Donnai Syndrome
Posteriorly rotated ears, Anteverted nares, Short neck, Hypertelorism, Bulbous nose, Hemivertebra... ORPHA:1780
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Difficulty walking, Paralysis OMIM:608634
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Femoral bowing, S... OMIM:602080
Holoprosencephaly 14
Median cleft lip, Anteverted nares, Proboscis, Cleft lip, Cleft palate, Low-set ears, Cyclopia, M... OMIM:619895
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Depressed nasal bridge, Micro... ORPHA:404440
Carpenter Syndrome 2
Short neck, Bilateral cryptorchidism, High, narrow palate, Protruding ear, High palate, Long phil... OMIM:614976
Griscelli Syndrome
Abnormal eyebrow morphology, Hepatomegaly, Short stature, Ataxia, Abnormality of neutrophils, Abn... ORPHA:381
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Acute Promyelocytic Leukemia
Abnormal bleeding, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukoc... ORPHA:520
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Temtamy Syndrome
Dental crowding, Convex nasal ridge, Micrognathia, Hypertelorism, Lop ear, Hypoplasia of teeth, C... OMIM:218340
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Small for gestational age, Short neck, Splenomegaly, Wide anterior fo... OMIM:606003
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... OMIM:231095
Riddle Syndrome
Decreased circulating IgG level, Short stature, Pulmonary fibrosis, Ataxia OMIM:611943
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... OMIM:606367
Mulibrey Nanism
Cachexia ORPHA:2576
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Decreased circulating antibody... OMIM:616740
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Anteverted nares, Depressed nasal bridge, Choanal atresia, Hypertelorism, Cryptorchidism, Aplasia... ORPHA:1555
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of the 4th finger... OMIM:616738
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Arteria lusoria, Recurrent aspiration pneumonia, Intention tremor, Ataxia, Hyperlordo... ORPHA:221139
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men... OMIM:616176
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Impaired rist... OMIM:231200
Reticular Dysgenesis
Recurrent respiratory infections, Abnormality of neutrophils, Weight loss, Decreased circulating ... ORPHA:33355
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Anteverted nares, Micrognathia, Short neck, Hyperlordosis, Bulbous nose, Cleft pa... OMIM:615065
Teebi-Shaltout Syndrome
Hypertelorism, Broad nasal tip, High, narrow palate, Underdeveloped nasal alae, Wide nasal bridge... OMIM:272950
Huntington Disease-Like 2
Weight loss ORPHA:98934
Granulomatosis With Polyangiitis
Granulomatosis, Ureteral stenosis, Vasculitis, Pulmonary fibrosis, Prostatitis, Renal insufficien... ORPHA:900
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Head titubation, Dysmetria, Abnormality of the vertebral column, Myoclonus, Truncal ataxi... OMIM:250620
Menkes Disease
Joint laxity, Short stature, Metaphyseal spurs, Metaphyseal widening, Babinski sign, Osteoporosis... OMIM:309400
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Prominent nasal bridge, Kyphoscoliosis, Micrognathia, Carious teeth, C... OMIM:214150
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... OMIM:609166
Vitamin K Antagonist Embryofetopathy
Anteverted nares, Depressed nasal bridge, Choanal atresia, Hypertelorism, Short neck, Myelomening... ORPHA:1914
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Autoimmune hemolytic anemia, Failure to thrive, Ataxia, Impaired T cell func... OMIM:613179
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short femur, Fractured radius, Decreased fibular diameter, Micrognathia, Flared metap... OMIM:616897
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Dental crowding, Micrognathia, Kyphosis, Sensorineural hearing impairment, Cryptorchidism, Propto... OMIM:615381
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... ORPHA:56304
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Clonus, Hypertonia, Hepatomegaly, Increased bone mineral density, S... OMIM:259720
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele, Coloboma, Orofacial cleft ORPHA:324416
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Narrow mouth, Thin vermilion border, Depressed nasal ridge, Micrognathia ORPHA:1046
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen... ORPHA:443811
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Low-set, posteriorly rotated ears, Prominent nasal bridge, Carious teeth, ... ORPHA:1110
Flynn-Aird Syndrome
Ataxia, Cachexia, Joint stiffness, Kyphosis, Bone cyst, Primary adrenal insufficiency, Scoliosis,... ORPHA:2047
19P13.3 Microduplication Syndrome
Posteriorly rotated ears, Unilateral cryptorchidism, Kyphoscoliosis, Micrognathia, Prominent nose... ORPHA:447980
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Malaria
Anemia, Acute kidney injury, Gait imbalance, Thrombocytopenia ORPHA:673
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Macrocytic anemia, Ataxia, Thrombocytopenia, Paraparesis, Chor... ORPHA:27
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spa... OMIM:601349
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic aciduria, Card... OMIM:251000
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia OMIM:615085
Multiple Pterygium-Malignant Hyperthermia Syndrome
Congenital muscular torticollis, Exaggerated cupid's bow, Posteriorly rotated ears, Prominent nas... ORPHA:2215
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Fibrochondrogenesis 1
Abnormal pinna morphology, Anteverted nares, Depressed nasal bridge, Short neck, Narrow mouth, Cl... OMIM:228520
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Benign Samaritan Congenital Myopathy
Hypertelorism, Wide nasal bridge, Narrow mouth ORPHA:324581
Gm1 Gangliosidosis
Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Aspiration pneumonia, Cherry... ORPHA:354
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Broad-based gait, Gait ataxia, Steppage gait, Scoliosis, Difficulty walking, Loss of ambulation, ... OMIM:614895
Temple-Baraitser Syndrome
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Thick nasal a... ORPHA:420561
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Radial deviation of finger, Clinodactyly, Thrombocyto... OMIM:188025
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing... OMIM:612394
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Death in infancy, Eosinophilia, Kypho... OMIM:617425
Hermansky-Pudlak Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Abnormality of th... ORPHA:79430
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Pursed lips, Dental crowding, Kyphoscoliosis, Short neck, Abnormal auditor... OMIM:193700
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Promin... OMIM:200990
Rhombencephalosynapsis
Microretrognathia, Low-set, posteriorly rotated ears, Septo-optic dysplasia, Aganglionic megacolo... ORPHA:59315
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Desquamative interstitia... OMIM:615952
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Tremor, Hypertension, Myoclonus, Ptosis ORPHA:97229
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Dental crowding, Hypertelorism, Narrow mouth, Protruding ear, High palate, Long philtrum, Short nose OMIM:615539
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, Opisthotonus, T l... ORPHA:508533
Gand Syndrome
Thin upper lip vermilion, Hypertelorism, Broad nasal tip, Wide nasal bridge, Wide mouth, Deeply s... OMIM:615074
Agnathia-Otocephaly Complex
Wide nose, Micrognathia, Conductive hearing impairment, Aglossia, Cleft palate, Low-set ears, Nar... OMIM:202650
Sengers Syndrome
Osteopenia, Cardiac arrest, Sudden cardiac death, Growth delay, 3-Methylglutaconic aciduria, Pulm... OMIM:212350
Cockayne Syndrome Type 1
Mandibular prognathia, Absent brainstem auditory responses, Anophthalmia, Delayed eruption of pri... ORPHA:90321
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
8Q12 Microduplication Syndrome
Narrow mouth, Sensorineural hearing impairment, Wide nasal bridge, Everted lower lip vermilion, L... ORPHA:228399
17P11.2 Microduplication Syndrome
Low-set, posteriorly rotated ears, Abnormal dental morphology, Micrognathia, Open bite, Hypertelo... ORPHA:1713
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Hypertelorism, Narrow mouth... ORPHA:83
Lessel-Kubisch Syndrome
Narrow nasal bridge, Narrow mouth OMIM:618681
Kapur-Toriello Syndrome
Posteriorly rotated ears, Intestinal malrotation, Short neck, Bulbous nose, Orofacial cleft, Reti... ORPHA:2328
Sandestig-Stefanova Syndrome
Short neck, Wide nasal bridge, Orofacial cleft, High palate, Low-set ears, Angulated antihelix, M... OMIM:618804
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Insulin-Like Growth Factor I, Resistance To
Thin upper lip vermilion, Rieger anomaly, Micrognathia, Narrow mouth, Wide nasal bridge, Webbed n... OMIM:270450
Treacher Collins Syndrome 1
Cleft soft palate, Choanal atresia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Cleft... OMIM:154500
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Posteriorly rotated ears, High, narrow palate, Cryptorchidism, Increase... OMIM:618494
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Vacterl With Hydrocephalus
Absence of the sacrum, Anophthalmia, Microtia, third degree, Spina bifida, Micrognathia, Cryptorc... ORPHA:3412
Arthrogryposis, Distal, Type 2B3
Scoliosis, Narrow mouth OMIM:618436
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia... OMIM:150550
Roberts-Sc Phocomelia Syndrome
Micrognathia, Short neck, Coloboma, High palate, Shallow orbits, Hyperplasia of the maxilla, Clef... OMIM:268300
Holoprosencephaly-Craniosynostosis Syndrome
Hypoplastic vertebral bodies, Holoprosencephaly, Craniosynostosis ORPHA:2163
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Telangiectasia of... ORPHA:221
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypopl... OMIM:108720
Hypoglossia With Situs Inversus
Micrognathia, High palate, Hypodontia, Low-set ears, Narrow mouth, Microglossia OMIM:612776
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Broad-based gait, Ataxia, Decreased response to growth hormone ... OMIM:610978
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Dental crowding, Micrognathia, Short neck, Deeply set eye, Coloboma, High palate, Short philtrum,... ORPHA:251028
Moyamoya Disease With Early-Onset Achalasia
Abnormal cerebral vascular morphology, Raynaud phenomenon, Abnormal platelet aggregation, Hyperte... ORPHA:401945
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Cerebral palsy, Subarachnoid hemorrhage, Neonatal... ORPHA:853
Fanconi Anemia, Complementation Group C
Ectopic kidney, Flexion contracture, Reticulocytopenia, Anterior wedging of T12, Neutropenia, Int... OMIM:227645
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Abnormal pulmonary interstitial morphology, Hand tremor, Nephrotic syndrom... ORPHA:401835
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Xerostomia, Clubbing, Hematochezia, Clubbing of fingers, Anemia OMIM:175500
Fanconi Anemia, Complementation Group S
Macrodontia, Anteverted nares, Prominent nasal bridge, Hypertelorism, Underdeveloped nasal alae, ... OMIM:617883
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... ORPHA:158057
Chromosome 1P35 Deletion Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Hypertelorism, Micrognathia, Cryptorchidism, ... OMIM:617930
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Pneu... OMIM:300400
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Death in infancy, Short neck, Cryptorchidism, Patent ductus arteriosus, Cholestasis... OMIM:608104
Myopathy With Extrapyramidal Signs
Joint laxity, Hepatomegaly, Epicanthus, Ataxia, Clonus, Short neck, Tremor, Splenomegaly, Leukocy... OMIM:615673
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Leuk... ORPHA:99828
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Cachexia, Abnormal mesentery morphology, Abnormal form of the vertebra... ORPHA:93941
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Lumbar hyperlordosis, Micrognathia, Cryptorchidism, Hypotelorism, Deeply set eye, High palate, At... OMIM:602471
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Miscarriage, Posteriorly rotated ears, Short neck, Micrognathia, Cryptorchidism, W... ORPHA:1865
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Oligodontia, Prominence of the zygomatic bone, Small earlobe, Exagger... ORPHA:364577
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Stromme Syndrome
Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Micrognathia, Hypertelorism, Pro... OMIM:243605
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Micromelia, Abnormal tibia morphology, Osteoarthritis, Flexion con... ORPHA:666
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, De... ORPHA:169154
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Hepatic fibrosis, Intrauterine growth retardation, Decreased circulatin... OMIM:620005
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Spasticity, Holoprosencephaly ORPHA:2523
Alexander Disease Type I
Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Scoliosis, Palatal tremor, Failure to thrive ORPHA:363717
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Telecanthus, Hyperlordosis, Small hand, Spastic diplegia, Growth de... OMIM:619980
Distal Duplication 5Q
Prominent nasal bridge, Micrognathia, Carious teeth, Hypertelorism, Cryptorchidism, Thin vermilio... ORPHA:96097
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Short stature, Duplication of thumb phalanx, Thrombocytopen... OMIM:616435
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Vesicoureteral reflux, Clinod... OMIM:274000
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Splenomegaly, Flexion contracture, Lymphadenopathy, Anemia, Arth... OMIM:617591
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... ORPHA:99147
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Mandibular prognathia, Thin upper lip vermilion, Cryptorchidism, Wide nasal bridge, Protruding ea... OMIM:619595
Alg12-Cdg
Proximal placement of thumb, Abnormal bone ossification, Clinodactyly of the 5th finger, Micropen... ORPHA:79324
Microhydranencephaly, X-Linked
Multiple joint contractures, Holoprosencephaly OMIM:306990
Q Fever
Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Hepatomegaly, Vascul... ORPHA:781
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Failure to thrive, Absent peripheral lymph nodes in presence of infection, Abnormal i... ORPHA:98813
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, 3-Methylglutaconic aciduria, Spasticity, Failure to thrive, Thrombocytopenia ORPHA:67048
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5
Bone marrow hypocellularity, Pulmonary fibrosis OMIM:618674
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Chorioretinal coloboma,... OMIM:234100
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, ... OMIM:610125
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Posteriorly rotated ears, Anterior pituitary hypoplasia, Micro... ORPHA:264200
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Flexion contracture, X... ORPHA:220393
Walker-Warburg Syndrome
Anophthalmia, Posteriorly rotated ears, Cryptorchidism, Submucous cleft hard palate, Cleft palate... ORPHA:899
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Depressed nasal bridge, Short neck, Hypertelorism, Cryptorchidism, Bulbous... ORPHA:369891
Desbuquois Dysplasia 1
Microretrognathia, Depressed nasal bridge, Short neck, Hyperlordosis, Narrow mouth, Kyphosis, Pla... OMIM:251450
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Stiff neck, Hyperhidrosis, Abnormal left ventricular function, Leukopenia, I... ORPHA:99827
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Ververi-Brady Syndrome
Thin upper lip vermilion, Wide nose, Hypertelorism, Prominent nose, Broad nasal tip, Bulbous nose... OMIM:617982
Acropectorovertebral Dysplasia
Capitate-hamate fusion, Spina bifida occulta at S1, Spina bifida occulta at L5, Abnormal vertebra... OMIM:102510
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Renal salt wasting, Precocious atherosclerosis, Microvesicular hepatic st... ORPHA:275761
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Osteoporosis, Incr... ORPHA:98849
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Pancreatic steatosis, Reduced bone mineral density, ... OMIM:617052
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Mandibular prognathia, Thin upper lip vermilion, Hypertelorism, Wide mouth, Short columella, Low-... OMIM:619989
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Jaundice, Lymphadenopathy, Anemia, Intrauterine growt... ORPHA:858
Cutis Laxa, Autosomal Recessive, Type Iid
Kyphoscoliosis, Hypertelorism, Bilateral cryptorchidism, Macrotia, Bulbous nose, Wide nasal bridg... OMIM:617403
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Gait ataxia, Aminoaciduria, Proximal tubulopathy, Failure to thrive OMIM:612075
Juvenile Polyposis Of Infancy
Abnormal bleeding, Gastrointestinal hemorrhage, Refractory anemia, Short stature, Cachexia, Paten... ORPHA:79076
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Prominent nasal bridge, Hypoplasia of the m... ORPHA:1307
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Abnormal mast cell morphology, Hemiparesis ORPHA:398189
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Hypertelorism, Large earlobe, Microphthalmia, Smooth philtrum OMIM:602501
Faciocardiorenal Syndrome
Hypertelorism, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Protruding ear, Hypodo... ORPHA:1973
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Intracranial hemorrhage, Micropenis, Long toe, Absent ga... ORPHA:163979
Thyrocerebrorenal Syndrome
Renal insufficiency, Slurred speech, Euthyroid goiter, Myoclonus, Nonprogressive cerebellar ataxi... ORPHA:3327
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Thickened nuchal skin fold, Redundant neck skin, Posteriorly rotated ears, Supernumerary nipple, ... OMIM:604314
Down Syndrome
Thickened nuchal skin fold, Aganglionic megacolon, Depressed nasal bridge, Protruding tongue, Abn... ORPHA:870
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Alveolar Echinococcosis
Liver abscess, Cholangitis, Renal cyst, Abnormal vertebral morphology, Ataxia, Portal hypertensio... ORPHA:284
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... OMIM:233650
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Chorea, Polyarticular arthritis, Lymphopenia, Thrombocytopenia OMIM:616744
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia ORPHA:2134
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Pleuritis, Nephritis, Thr... OMIM:152700
Fetal Parvovirus Syndrome
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia, Intrauterine growth retardation ORPHA:295
Myopathy, Centronuclear, 5
Micrognathia, High palate, Narrow mouth, Retrognathia, Bifid uvula OMIM:615959
Stormorken Syndrome
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Short stature, Asplen... OMIM:185070
Vissers-Bodmer Syndrome
Holoprosencephaly, Decreased body weight OMIM:619033
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Medial calcification of large arteries, Functional abnormality of the bladder, T lymp... ORPHA:391487
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae, Anal atr... ORPHA:1436
Cat-Eye Syndrome
Hypertelorism, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Anal atresia, Hearing impai... ORPHA:195
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome
Wide mouth, Abnormality of mouth shape, Underdeveloped tragus, Hypertelorism ORPHA:83619
Linear Skin Defects With Multiple Congenital Anomalies 2
Posteriorly rotated ears, Hypertelorism, Long philtrum, Microphthalmia, Short nose OMIM:300887
Subacute Inflammatory Demyelinating Polyneuropathy
Limitation of movement at ankles, Tremor, Leukocytosis, Choreoathetosis, Increased circulating Ig... ORPHA:206594
Idiopathic Bronchiectasis
Cachexia, Myocardial infarction, Respiratory tract infection, Emphysema, Clubbing, Bronchiectasis... ORPHA:60033
Surfactant Metabolism Dysfunction, Pulmonary, 3
Death in infancy, Paraseptal emphysema, Nonspecific interstitial pneumonia, Crazy paving pattern,... OMIM:610921
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to grow... ORPHA:811
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Macrocytic anemia, Autoimmune thrombocytopenia, Xerostomia, Primary adrenal insuffici... ORPHA:227990
Warburg Micro Syndrome 4
Anteverted nares, Prominent nasal bridge, Cryptorchidism, Narrow mouth, Deeply set eye, Long phil... OMIM:615663
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Short metacarpal, Tricuspid regurgitation, Short humerus, Short sta... ORPHA:508542
Ivic Syndrome
Severe short stature, Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Leukocytosis... ORPHA:2307
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Diastema, Bulbous nose, Wide mouth, Hypertelorism OMIM:618470
Branchiootic Syndrome 1
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... OMIM:602588
Sea-Blue Histiocytosis
Abnormal bleeding, Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue h... ORPHA:158029
Microsporidiosis
Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the parathyroid... ORPHA:2552
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Impaired platelet adhesion, Autoimmune th... ORPHA:324636
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive, Failure to thrive in infancy, Short stature, Ky... OMIM:610377
Ritscher-Schinzel Syndrome 3
Thin upper lip vermilion, Death in infancy, Anteverted nares, Micrognathia, Hypertelorism, Crypto... OMIM:619135
Polyrrhinia
Abnormal nasal bone morphology, Hypertelorism, Abnormal external nose morphology, Orofacial cleft... ORPHA:141091
Systemic Sclerosis
Flexion contracture, Intestinal bleeding, Raynaud phenomenon, Finger swelling, Pulmonary fibrosis... ORPHA:90291
Nasopalpebral Lipoma-Coloboma Syndrome
Depressed nasal bridge, Hypertelorism, Hypoplasia of the maxilla, Cupped ear, Wide nasal bridge, ... OMIM:167730
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia, Recurrent respiratory infections, Pulmonary fibrosis ORPHA:2111
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Epicanthus, Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibo... OMIM:614069
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Bronchitis, Chorea, Xerostomia, Tubulointerstitial n... ORPHA:289390
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Short stature, Inability to walk, Hypertonia, Scoliosis, Spasticity, Failure to thrive, Thrombocy... OMIM:616577
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Difficulty walking, Paralysis OMIM:613710
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Congenital hip dislocation, ... ORPHA:217346
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia, Xerost... ORPHA:227982
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Pneumonia, Giant platelets, ... ORPHA:238459
Cockayne Syndrome
Urinary incontinence, Congenital contracture, Progressive gait ataxia, Hypertonia, Retinal arteri... ORPHA:191
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... ORPHA:3002
Cerebral Cavernous Malformations
Intracranial hemorrhage, Hepatic vascular malformations, Cerebral cavernous malformation OMIM:116860
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Short stature, Splenomegaly, Recurrent upper respiratory tract i... OMIM:616005
Musculocontractural Ehlers-Danlos Syndrome
Cervical kyphosis, Protruding ear, High palate, Abnormality of the cervical spine, Microretrognat... ORPHA:2953
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Portal hypertension, Congenital he... ORPHA:974
Leukodystrophy, Hypomyelinating, 24
Severe short stature, Flexion contracture, B lymphocytopenia, Tongue fasciculations, Hypothyroidism OMIM:619851
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Redundant neck skin, Posteriorly rotated ears, Anteverted nares, Depressed nasal bri... OMIM:123790
Fraser Syndrome
Anophthalmia, Dental crowding, Cleft ala nasi, Orofacial cleft, Vertebral segmentation defect, Hi... ORPHA:2052
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of neutrophils, Abnormality of thumb phalanx, Clinod... ORPHA:235
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Cartilage-Hair Hypoplasia
Metaphyseal widening, Coxa vara, Femoral bowing, Short palm, Neutropenia, Neonatal short-limb sho... OMIM:250250
Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Hypertelorism, Bifid nasal tip, Anteriorly placed anus, Microphthalmia ORPHA:2717
Richieri Costa-Da Silva Syndrome
Kyphoscoliosis, Abnormality of the dentition, Short neck, Vertebral wedging, Decreased anteriopos... ORPHA:3101
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Tetrasomy 12P
Telecanthus, Short stature, Cachexia, Short neck, Sparse eyebrow, Hypohidrosis, Upslanted palpebr... ORPHA:884
Non-Involuting Congenital Hemangioma
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... ORPHA:141179
Heart And Brain Malformation Syndrome
Attached earlobe, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Hypertelori... OMIM:616920
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Stroke, Micr... ORPHA:54057
Combined Oxidative Phosphorylation Deficiency 31
Depressed nasal bridge, Anteverted nares, Micrognathia, Bulbous nose, Wide mouth, Deeply set eye OMIM:617228
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Broad ... OMIM:152950
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... OMIM:147750
Hall-Riggs Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Hypertelorism, Pr... ORPHA:2107
Branchiooculofacial Syndrome
Anophthalmia, Micrognathia, Short neck, Conductive hearing impairment, Hypoplastic superior helix... OMIM:113620
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Mixed hearing impairment, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Th... OMIM:608624
Congenital Disorder Of Glycosylation, Type Ie
Short palm, Hepatomegaly, Ataxia, Ankle flexion contracture, Tremor, Splenomegaly, Patent ductus ... OMIM:608799
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Agammaglobulinemia, X-Linked
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... OMIM:300755
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Increased circulating IgE level, Recurrent upper respiratory tra... OMIM:619752
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Thin upper lip vermilion, Slender nose, Micrognathia, Cryptorchidism, Wide mouth, Scoliosis, Low-... OMIM:615419
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Vasculitis, Ost... ORPHA:324964
Microphthalmia, Isolated 8
Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia OMIM:615113
Ataxia-Telangiectasia
Conjunctival telangiectasia, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus... OMIM:208900
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thoracic scoliosis, Micrognathia, Downturned corners of mouth, Choanal stenosis, ... OMIM:620186
Rett Syndrome
Dystonia, Short stature, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Short foot, Scoliosis, Tr... OMIM:312750
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... OMIM:616331
Acalvaria
Cleft palate, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Mesomelia-Synostoses Syndrome
Hearing impairment, Micrognathia, Aplasia/Hypoplasia of the uvula, High, narrow palate, Bulbous n... ORPHA:2496
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocy... ORPHA:100026
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
17Q23.1Q23.2 Microdeletion Syndrome
Sacral dimple, Depressed nasal bridge, Hypertelorism, Bulbous nose, Protruding ear, Widely spaced... ORPHA:261279
Chromosome 6Pter-P24 Deletion Syndrome
Tented upper lip vermilion, Dental crowding, Posteriorly rotated ears, Depressed nasal bridge, Cl... OMIM:612582
Muscle-Eye-Brain Disease
Hemiplegia/hemiparesis, Hydrocephalus, Meningocele, Hypertonia, Gait disturbance, Holoprosencephaly ORPHA:588
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... OMIM:314050
Moebius Syndrome
Decreased testicular size, Abnormal nasopharynx morphology, Abnormal pinna morphology, Depressed ... OMIM:157900
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Posteriorly rotated ears, Prominent nasal bridge, Hype... OMIM:614424
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Al Amyloidosis
Howell-Jolly bodies, Xerostomia, Abnormality of the liver, Abnormal salivary gland morphology, Ab... ORPHA:85443
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circul... OMIM:304790
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Diamond-Blackfan Anemia 21
Aortic regurgitation, Hallux valgus, Unilateral ptosis, Sandal gap, Short stature, Tapered finger... OMIM:620072
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Short stature, Ataxia, Thiamine-responsive megaloblastic anemia, Cryptorchi... OMIM:249270
Frontofacionasal Dysplasia
Encephalocele, Depressed nasal bridge, Choanal atresia, Hypertelorism, Bifid nasal tip, Non-midli... ORPHA:1791
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Br... OMIM:620233
Dk Phocomelia Syndrome
Phocomelia, Thrombocytopenia OMIM:223340
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Micrognathia, Depressed nasal ridge, Protruding ear, Deeply set eye, High ... ORPHA:261337
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Hypertelorism, Narrow... OMIM:601353
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Short neck, High palate, Conductive hearing impairment, Pre... OMIM:102500
Aicardi-Goutieres Syndrome 5
Arthropathy, Spasticity, Flexion contracture, Thrombocytopenia OMIM:612952
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Anemia of inadequate production, Megaloblastic a... OMIM:617780
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the thyroid gland, Abnormal... ORPHA:3344
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Bronchiectasis, Decrea... OMIM:619705
Rapidly Involuting Congenital Hemangioma
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... ORPHA:141184
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Slender build, Cachexia, Weight loss OMIM:613662
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage,... ORPHA:49566
Zika Virus Disease
Subcutaneous hemorrhage, Miscarriage, Ankle swelling, Wrist swelling, Arthritis, Increased circul... ORPHA:448237
Bohring-Opitz Syndrome
Bilateral cleft palate, Sacral dimple, Posteriorly rotated ears, Intestinal malrotation, Supernum... OMIM:605039
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Hypertelorism, Bulbous nose... OMIM:614105
Seckel Syndrome 2
Prominent nose, Micrognathia, Microdontia, Microphthalmia, Microglossia OMIM:606744
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short neck, Flexion contracture, Leukopenia, Conjunctivitis, Thoracic kyphosis, Decreased circula... ORPHA:505248
Sialidosis Type 2
Hepatomegaly, Short stature, Ataxia, Tremor, Splenomegaly, Kyphosis, Flexion contracture, Osteopo... ORPHA:87876
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Fibrochondrogenesis
Anteverted nares, Depressed nasal bridge, Hypertelorism, Short neck, Abnormal form of the vertebr... ORPHA:2021
Fanconi Anemia, Complementation Group F
Sacral dimple, Failure to thrive, Short stature, Decreased response to growth hormone stimulation... OMIM:603467
Manitoba Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Hypertelorism, Broad nasal tip, Bifid nasal tip, Anteriorly placed a... OMIM:248450
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Thin upper lip vermilion, Abnormal pinna morphology, Hypertelorism, Perianal abscess, Cryptorchid... OMIM:614684
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Depressed nasal bridge, Short neck, Hypertelorism, Cryptorchidism, Bulbous nose, Wide mouth, Macr... OMIM:616789
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Micrognathia, Short neck, Long neck, Long nose, Cleft palate, Protruding ear, High palate, Low-se... OMIM:301091
Microphthalmia, Syndromic 2
Anophthalmia, Anteverted ears, Oligodontia, Fused teeth, Iris coloboma, Bifid uvula, Persistence ... OMIM:300166
Silver-Russell Syndrome
Hypospadias, Sandal gap, Cachexia, Failure to thrive in infancy, Short stature, Cryptorchidism, P... ORPHA:813
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Mandibular prognathia, Duodenal polyposis, Optic disc hypoplasia, Micrognathia, Abnormality of ca... ORPHA:261584
Klippel-Feil Syndrome 2, Autosomal Recessive
Abnormal pinna morphology, Short neck, Cleft upper lip, Sensorineural hearing impairment, Cleft p... OMIM:214300
Coffin-Siris Syndrome 3
Wide nose, Anteverted nares, Depressed nasal bridge, Cleft palate, Wide mouth, Macroglossia, Dela... OMIM:614608
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Decreased response to growth hormone stimulat... OMIM:241410
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Posteriorly rotated ears, Anteverted nares, Micrognathia, Hypertelorism, Wide nasal bridge, Wide ... OMIM:602562
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... ORPHA:464343
17Q12 Microduplication Syndrome
Tracheoesophageal fistula, Cleft palate, Deeply set eye, Microphthalmia, Abnormal vertebral morph... ORPHA:261272
Diencephalic Syndrome
Cachexia, Long penis, Hyperhidrosis, Large hands, Decreased body weight ORPHA:1672
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Anteverted nares, Depressed nasal bridge, High, narrow palate, Bulbous nose, Thick lower lip verm... OMIM:617268
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... OMIM:124900
Platelet Signal Processing Defect
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... OMIM:173590
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Cry... OMIM:300260
Liang-Wang Syndrome
Thin upper lip vermilion, Hypertelorism, Diastema, Gingival overgrowth, Wide nasal bridge, Downtu... OMIM:618729
X-Linked Intellectual Disability, Snyder Type
Mandibular prognathia, Dental crowding, High palate, Short philtrum, Thickened helices, Small ear... ORPHA:3063
Microphthalmia, Lenz Type
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Abnorma... ORPHA:568
Micro Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Kyphosis, Cryptorchidism, Wide... ORPHA:2510
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Congenital hip dislocation, Multiple joint contractures, Overlapping fingers, Femu... OMIM:618291
Developmental And Epileptic Encephalopathy 6B
Hypertelorism, Scoliosis, Narrow mouth OMIM:619317
Cerebrooculofacioskeletal Syndrome 4
Posteriorly rotated ears, Prominent nasal bridge, Kyphoscoliosis, Micrognathia, Bilateral microph... OMIM:610758
Digeorge Syndrome
Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t... OMIM:188400
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Wide anterior fontanel, Abno... ORPHA:1860
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Anteverted nares, Micrognathia, Wide nasal bridge, Hydrocele testis, Narrow mouth, Neonatal death OMIM:618810
Skin Creases, Congenital Symmetric Circumferential, 2
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Uplifted earlobe, Mic... OMIM:616734
Chromosome 8Q21.11 Deletion Syndrome
Exaggerated cupid's bow, Micrognathia, Short neck, Hypertelorism, Sensorineural hearing impairmen... OMIM:614230
Cutis Laxa, Autosomal Recessive, Type Iiia
Narrow nasal ridge, Hypertelorism, Narrow mouth, Cryptorchidism, Hypotelorism, Low-set ears, Scol... OMIM:219150
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Syndactyly, Radial bowing, Apl... OMIM:605432
Takenouchi-Kosaki Syndrome
Proximal placement of thumb, Synophrys, Hypospadias, Ataxia, Increased mean platelet volume, Tape... OMIM:616737
Hemorrhagic Fever-Renal Syndrome
Back pain, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitia... ORPHA:340
Methylcobalamin Deficiency Type Cble
Syndactyly, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Postnatal growth retardat... ORPHA:2169
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Ataxia, Cachexia, Di... ORPHA:42
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Sensorineural hearing impairment, Bilateral cleft lip and palate, Chorioretinal coloboma, Microph... ORPHA:1473
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypothyroidis... ORPHA:90065
Porphyria, Acute Hepatic
Failure to thrive, Respiratory paralysis, Paralysis OMIM:612740
Fraser Syndrome 1
Anophthalmia, Dental crowding, Cleft ala nasi, Choanal stenosis, Conductive hearing impairment, H... OMIM:219000
Osteogenesis Imperfecta, Type X
Osteopenia, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia, Tibial b... OMIM:613848
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Steinfeld Syndrome
Missing ribs, Abnormality of the vertebral column, Holoprosencephaly, Abnormal vertebral morpholo... OMIM:184705
Cog4-Cdg
Failure to thrive in infancy, Ataxia, Recurrent upper respiratory tract infections, Hepatosplenom... ORPHA:263501
Holoprosencephaly 1
Proboscis, Hypotelorism, Aplasia of the nose, Microphthalmia, Cyclopia, Median cleft lip and palate OMIM:236100
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Posteriorly rotated ears, Optic nerve hypoplasia, Choanal atresia, Cleft upper lip, High, narrow ... OMIM:607597
Hemochromatosis, Type 3
Arthritis, Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, Anemia, Purpura OMIM:604250
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia OMIM:612126
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Mandibular prognathia, Thick upper lip vermilion, Thick lower lip vermilion, Wide mouth OMIM:309545
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Iris coloboma, Coloboma, Hearing impairment OMIM:610023
Osteoglosphonic Dysplasia
Anteverted nares, Choanal atresia, Micrognathia, Hypertelorism, Cryptorchidism, Abnormal form of ... ORPHA:2645
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Short neck, Narro... ORPHA:77301
Arachnoid Cyst
Back pain, Encephalocele, Paraparesis, Hydrocephalus, Inability to walk, Slurred speech, Hemipare... ORPHA:2356
Boutonneuse Fever
Renal insufficiency, Petechiae, Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Leukopenia... ORPHA:83313
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Ataxia... OMIM:214500
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Osteoporosis, Gait disturbance, Vertebral compression fracture ORPHA:85193
Autosomal Recessive Centronuclear Myopathy
Hyperlordosis, Protruding ear, High palate, Narrow mouth, Retrognathia, Bifid uvula ORPHA:169186
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Immunodeficiency 54
Hepatomegaly, Failure to thrive, Recurrent respiratory infections, Short stature, Postnatal growt... OMIM:609981
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Palpebral edema, Ataxia, Myocarditis, Thrombocytopenia... ORPHA:50918
Cholesteryl Ester Storage Disease
Hepatomegaly, Death in infancy, Portal hypertension, Bone-marrow foam cells, Hypersplenism, Throm... OMIM:278000
Variant Abeta2M Amyloidosis
Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue ORPHA:314652
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Hyperteloris... OMIM:608013
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, Deeply set... OMIM:619148
Hepatoportal Sclerosis
Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperpl... ORPHA:64743
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Short stature, Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Elevat... OMIM:300845
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Decreased response to growth hormone stimulation t... OMIM:616007
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive he... ORPHA:49827
Classic Hodgkin Lymphoma
Hepatomegaly, Ataxia, Splenomegaly, Osteolysis, Lymphadenopathy, Hyperhidrosis, Weight loss, Bone... ORPHA:391
49,Xxxxy Syndrome
Short neck, Tremor, Cleft palate, Joint hyperflexibility, Radioulnar synostosis, Holoprosencephal... ORPHA:96264
Cystic Echinococcosis
Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Peritoneal abscess, B... ORPHA:400
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Parkinsonism, Cerebral hemorrhage, Stress urinary incontinence, Arteri... ORPHA:136
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Giant cell hepatitis, Death in infancy, Small for gestational age, Hepatic mel... OMIM:208085
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Conical incisor, Oligodontia, Protein-losing enteropathy, Conductive hearing imp... OMIM:235510
Lig4 Syndrome
Recurrent respiratory infections, Pancytopenia, Epicanthus, Small for gestational age, Cryptorchi... OMIM:606593
Frontonasal Dysplasia 2
Encephalocele, Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridg... OMIM:613451
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Dental crowding, Narrow nasal ridge, Micrognathia, Hypoplasia of teeth,... OMIM:608612
Noonan Syndrome 4
Abnormal bleeding, Ureteral duplication, Epicanthus, Short stature, Short neck, Sparse eyebrow, C... OMIM:610733
Gray Platelet Syndrome
Myelofibrosis, Prolonged bleeding time, Abnormal bleeding, Impaired thrombin-induced platelet agg... OMIM:139090
Sneddon Syndrome
Tremor, Chorea, Arterial stenosis, Intracranial hemorrhage, Hypertension, Hemiparesis, Nephropathy ORPHA:820
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Purpura ORPHA:529
Kapur-Toriello Syndrome
Intestinal malrotation, Short neck, Cleft upper lip, Cryptorchidism, Bulbous nose, Cleft palate, ... OMIM:244300
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Increas... OMIM:263400
Poems Syndrome
Sclerosis of hand bone, Thrombocytosis, Sclerosis of foot bone, Metaphyseal sclerosis, Hypothyroi... ORPHA:2905
Prolidase Deficiency
Hepatomegaly, Petechiae, Hyperimidodipeptiduria, Thrombocytopenia, Splenomegaly, Recurrent pneumo... OMIM:170100
Proteus Syndrome
Pulmonary embolism, Neoplasm of the thymus, Abnormal finger morphology, Abnormal lung lobation, R... ORPHA:744
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Sacral dimple, Anteverted nares, Depressed nasal... ORPHA:435638
Neonatal Lupus Erythematosus
Abnormal bleeding, Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Hepato... ORPHA:398124
Smith-Kingsmore Syndrome
Rhizomelia, Large for gestational age, Short proximal phalanx of finger, Wide anterior fontanel, ... OMIM:616638
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Wide nose, Abnormal pinna morphology, Anteverted nares, Depressed nasa... OMIM:614607
Charge Syndrome
Anophthalmia, Hemivertebrae, Hypoplasia of the semicircular canal, Chorioretinal coloboma, Iris c... ORPHA:138
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Hypersensitivity p... ORPHA:2902
Temple-Baraitser Syndrome
Wide nose, Depressed nasal bridge, Hypertelorism, Downturned corners of mouth, Wide mouth, Short ... OMIM:611816
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Prolonged bleeding time, Abnormal bleeding, Gastrointestinal hemorrhage, Increased... OMIM:187900
Cutis Laxa, Autosomal Recessive, Type Iia
Anteverted nares, Carious teeth, Narrow mouth, High palate, Scoliosis, Long philtrum, Low-set ear... OMIM:219200
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... OMIM:187800
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Anophthalmia, Hypoplasia of the maxilla, High, narrow palate, Cryptorchidi... ORPHA:1101
Otopalatodigital Syndrome Type 2
Encephalocele, Abnormal pinna morphology, Depressed nasal bridge, Hearing impairment, Micrognathi... ORPHA:90652
Mental retardation, x-linked, syndromic, Turner type
Limited elbow extension, Holoprosencephaly OMIM:300706
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Anteverted nares, Uplifted earlobe, Hypertelorism, Kyphosis, Cleft pa... OMIM:616449
Chromosome 5Q12 Deletion Syndrome
Sacral dimple, Posteriorly rotated ears, Micrognathia, Short neck, Hypertelorism, Increased nucha... OMIM:615668
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Patent ductus arteriosus, Methylmalonic aciduria, Coarctation of aorta, Growth de... OMIM:614857
Coffin-Siris Syndrome 11
Depressed nasal bridge, Cleft soft palate, Uplifted earlobe, Hypertelorism, Esophageal atresia, B... OMIM:618779
Dpagt1-Cdg
Prolonged QT interval, Hepatomegaly, Arachnodactyly, Ataxia, Akinesia, Tremor, Inability to walk,... ORPHA:86309
Rapp-Hodgkin Syndrome
Depressed nasal bridge, Supernumerary nipple, Conical tooth, Hypoplasia of the maxilla, Carious t... OMIM:129400
Ayme-Gripp Syndrome
Mandibular prognathia, Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge... OMIM:601088
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Micrognathia, Duodenal stenosis, Microtia, Microphthalmia, Short nose ORPHA:2547
Zimmermann-Laband Syndrome
Wide nose, Micrognathia, Short neck, Hypertelorism, Supernumerary tooth, Sensorineural hearing im... ORPHA:3473
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Hepatomegaly, Bronchitis, Right ventricular failure, Increased pulmonary... ORPHA:60025
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt... OMIM:616100
Relapsing Fever
Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Jaundice... ORPHA:91547
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Ruvalcaba Syndrome
Dental crowding, Kyphosis, Cryptorchidism, Thin vermilion border, Scoliosis, Narrow mouth, Abnorm... ORPHA:3121
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Increased circulating IgG... ORPHA:284227
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
Pulmonary fibrosis, Usual interstitial pneumonia OMIM:616373
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Branchial cyst, Dental crowding, Cryptorchidism,... ORPHA:435938
3Q29 Microduplication Syndrome
Abnormality of the dentition, Short neck, Deep philtrum, Wide nasal bridge, Cleft palate, Ectopic... ORPHA:251038
Scedosporiosis
Pericarditis, Arthralgia/arthritis, Osteomyelitis, Pneumonia, Bronchitis, Pleural empyema, Pulmon... ORPHA:449280
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sacral dimple, High, narrow palate, Cryptorchidism, Bulbous nose, Wide mouth, Downturned corners ... OMIM:273390
Immunodeficiency 40
Hepatomegaly, Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, Growth de... OMIM:616433
Bleeding Disorder, Platelet-Type, 20
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:616913
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Intestinal malrotation, Velopharyngeal insufficiency, Vertebral clefting, Hemivertebrae, Submucou... OMIM:614701
Von Willebrand Disease, Type 2
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:613554
Takayasu Arteritis
Myocardial infarction, Vascular dilatation, Vasculitis, Arterial stenosis, Hyperhidrosis, Anemia,... ORPHA:3287
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Wide nose, Posteriorly rotated ears, Thick nasal alae, Anteverted nares... OMIM:618027
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Ataxia, Eosinophil... OMIM:615816
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Ataxia, Reduced natural killer cell activity, Splenomegaly, Jaundice,... OMIM:603553
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Iris coloboma OMIM:610092
Macrocephaly/Autism Syndrome
Joint laxity, Hepatomegaly, Epicanthus, Speech apraxia, Dilation of Virchow-Robin spaces, Penile ... OMIM:605309
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-... OMIM:619652
Immunodeficiency 43
Decreased circulating IgG level, Hypoplasia of the ulna, Recurrent respiratory infections, Radial... OMIM:241600
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Underdeveloped nasal alae, Cryptorchidism, Increased nuchal translucency, Wide nasal bridge, Clef... ORPHA:453499
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Thin upper lip vermilion, Everted upper lip vermilion, Optic nerve hypoplasia, Micrognathia, Deep... OMIM:618381
Surfactant Metabolism Dysfunction, Pulmonary, 2
Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Intralobular septal thickening, Des... OMIM:610913
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hemiparesis, Hypertension, Ischemic stroke, Thrombocytopenia, Moyamoya phenom... OMIM:615750
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Everted upper lip vermilion, Wide nose, Anteverted nares, Hypertelorism, Wide mouth, Deeply set e... OMIM:619056
Fryns Syndrome
Tented upper lip vermilion, Micrognathia, Short neck, High palate, Low-set, posteriorly rotated e... ORPHA:2059
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Honeycomb lung, Pulmonary fibrosis OMIM:616371
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Failure to thrive, Perianal abscess, Bronchiectasis, Decreased ... OMIM:618108
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cardiomyopathy, Athetosis, Hypertonia, Dystonia, ... OMIM:617710
Potocki-Lupski Syndrome
Mandibular prognathia, Dental crowding, Micrognathia, Hypertelorism, Dental malocclusion, Wide mo... OMIM:610883
Aicardi-Goutieres Syndrome 9
Hypertonia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hemolytic anemia, He... OMIM:619487
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Raynaud phenomenon, Lymphadenopathy, Hematuria, Art... ORPHA:93552
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Joint stiffness, Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Holoprosencephaly, S... ORPHA:2182
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Radial club hand, Hydrocephalus, Abnormality of the vertebral column, Abnorm... OMIM:276950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Exaggerated startle response, Spinal rigidity, Hydrocephalus, Flexion contracture,... OMIM:253800
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Epicanthus, Aplasia of the thymus, Decreased response to growth hormone stimu... OMIM:618223
Aregenerative Anemia
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone m... ORPHA:101096
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Renpenning Syndrome 1
Mandibular prognathia, Micrognathia, Protruding ear, Coloboma, High palate, Short philtrum, Death... OMIM:309500
Nance-Horan Syndrome
Prominent nasal bridge, Prominent nose, Diastema, Macrotia, Mulberry molar, Supernumerary maxilla... OMIM:302350
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Mixed hearing impairment, Intestinal malrotation, Dilatated in... OMIM:113650
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Otopalatodigital Syndrome, Type I
Selective tooth agenesis, Hypertelorism, Absent frontal sinuses, Wide nasal bridge, Cleft palate,... OMIM:311300
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Abnormal metatarsal morphology, Knee osteoarthritis, Flexion c... ORPHA:85408
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Recurrent respiratory infections, Short stature, Cachexia, Postaxial hand polydactyly, Hypertonia ORPHA:1389
2P15P16.1 Microdeletion Syndrome
Optic nerve hypoplasia, Hearing impairment, Supernumerary nipple, Prominent nasal bridge, Kyphosi... ORPHA:261349
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Broad neck, Anteverted nares, Depressed nasal bridge, Short neck, Cryptorchidism, Narrow philtrum... ORPHA:163654
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Respiratory tract infection, Cervical lymphadenopathy, Peri... ORPHA:2686
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... ORPHA:453504
Marbach-Rustad Progeroid Syndrome
Delayed eruption of primary teeth, Micrognathia, Eruption failure, Shallow orbits, Proptosis, Hyp... OMIM:619322
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... ORPHA:352665
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Overriding aorta, ... OMIM:617021
Developmental And Epileptic Encephalopathy 80
Death in infancy, Tented upper lip vermilion, Posteriorly rotated ears, Abnormal pinna morphology... OMIM:618580
Purine Nucleoside Phosphorylase Deficiency
Recurrent respiratory infections, Autoimmune hemolytic anemia, Abnormal central motor function, A... ORPHA:760
Cog1-Cdg
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Irregularity of vertebral bodies, Ky... ORPHA:263508
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Failure to thrive, Death in infancy, Short stature, Exocrine pan... OMIM:617941
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Ketonuria, Large for gestational age, Anemia, Aminoaciduria, Bone marrow hypocellular... OMIM:614520
Baller-Gerold Syndrome
Narrow nasal bridge, Prominent nasal bridge, Micrognathia, Hypertelorism, Malabsorption, Cleft pa... ORPHA:1225
Bartsocas-Papas Syndrome 2
Accessory oral frenulum, Micrognathia, Bilateral cleft lip and palate, Low-set ears, Microphthalm... OMIM:619339
Alg8-Cdg
Small for gestational age, Ataxia, Anemia, Talipes equinovarus, Camptodactyly, Intrauterine growt... ORPHA:79325
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis, Anal atresia OMIM:309620
Suleiman-El-Hattab Syndrome
Microretrognathia, Thin upper lip vermilion, Hypertelorism, Cryptorchidism, Thick lower lip vermi... OMIM:618950
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Malar prominence, Micrognathia, Kyphosis, Scoliosis, Microphthalmia, Abnormality of the cervical ... ORPHA:48431
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Oligodontia, High palate, Exaggerated median tongue fur... OMIM:608670
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Coloboma OMIM:274270
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Recurrent lower respiratory tract infections, T lymphocytopenia, B lymphocytopenia, Overlapping f... OMIM:615966
Iniencephaly
Encephalocele, Spina bifida, Hyperlordosis, Myelomeningocele, Absent vertebra, Hydrocephalus, Ane... ORPHA:63259
Nanophthalmos
Microphthalmia ORPHA:35612
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal dental morphology, Malar prominence, Hyperlordosis, Short neck, Micrognathia, Kyphosis, ... ORPHA:2522
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Diamond-Blackfan Anemia 1
Short neck, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Triphalangeal thumb, Neutropenia,... OMIM:105650
Microphthalmia, Syndromic 3
Optic nerve aplasia, Vertebral fusion, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary h... OMIM:206900
Branchiootic Syndrome
Branchial fistula, Lip pit, Micrognathia, Sensorineural hearing impairment, Cleft palate, Atresia... ORPHA:52429
X-Linked Intellectual Disability, Pai Type
Prominent nasal bridge, Cryptorchidism, Protruding ear, Hydrocele testis, Narrow mouth ORPHA:85322
Congenital Fibrinogen Deficiency
Abnormal bleeding, Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Internal hem... ORPHA:335
8Q22.1 Microdeletion Syndrome
Underfolded helix, Abnormal pinna morphology, Short neck, Hypoplasia of the maxilla, Abnormality ... ORPHA:178303
Thrombocytopenia 5
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... OMIM:616216
Lysinuric Protein Intolerance
Hepatomegaly, Failure to thrive, Short stature, Recurrent fractures, Thrombocytopenia, Splenomega... OMIM:222700
Moynahan Syndrome
Cachexia ORPHA:2574
Hyperparathyroidism, Transient Neonatal
Osteopenia, Hyperparathyroidism, Short femur, Metaphyseal spurs, Femoral bowing, Subperiosteal bo... OMIM:618188
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... OMIM:618849
Focal Myositis
Weight loss ORPHA:48918
Thyrocerebroretinal Syndrome
Ataxia, Slurred speech, Myoclonus, Nephritis, Thrombocytopenia, Goiter OMIM:274240
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Abnormal bleeding, Glomerulonephritis, Increased circulating IgA level, Hematuria, Thrombocytopenia OMIM:314000
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Microretrognathia, Depressed nasal bridge, Abnormally large globe, Micrognathia, Narrow mouth, Sh... OMIM:245600
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal cyst, Hypertonia, Bilateral superior vena cava with no bridging vein,... OMIM:618460
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... ORPHA:93333
X-Linked Creatine Transporter Deficiency
Short stature, Ataxia, Cachexia, Chorea, Joint hyperflexibility, Athetosis, Hypertonia, Dystonia,... ORPHA:52503
Antisynthetase Syndrome
Aortic regurgitation, Joint dislocation, Recurrent respiratory infections, Telangiectasia of the ... ORPHA:81
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Wide nose, Lumbar hyperlordosis, Dental crowding, Hearing impairment, H... OMIM:616078
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypertelorism, Hypoplasia of the ma... ORPHA:50814
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... OMIM:598500
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Tetraplegia, Lymphadenopathy, Anemia, Leukopenia, P... OMIM:267700
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Wide nose, Hypertelorism, Low posterior hairline, Abnormal columella morphology, Lumbar hemiverte... ORPHA:2463
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Petechiae, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly, Ja... ORPHA:540
Radio-Tartaglia Syndrome
Dental crowding, Micrognathia, High, narrow palate, Deeply set eye, High palate, Short philtrum, ... OMIM:619312
Pseudo-Torch Syndrome 2
Hepatomegaly, Petechiae, Cerebral hemorrhage, Patent ductus arteriosus, Abnormal renal corticomed... OMIM:617397
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Dental crowding, Hearing impa... OMIM:300998
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Joint stiffness, Short neck, Hyperlordosis, Achilles tendon contracture... ORPHA:98863
Aicardi-Goutieres Syndrome 7
Generalized lymphadenopathy, Hypertonia, Hepatic steatosis, Hypothyroidism, Hemolytic anemia, Hep... OMIM:615846
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Increas... ORPHA:169160
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Myoc... ORPHA:182050
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregati... OMIM:619271
Distal 22Q11.2 Microdeletion Syndrome
Thin upper lip vermilion, Branchial fistula, Choanal atresia, Prominent nasal bridge, Hyperlordos... ORPHA:261330
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia With Limb Anomalies
Low-set, posteriorly rotated ears, Death in infancy, Macrodontia, Hypoplasia of the premaxilla, D... ORPHA:1106
Achondroplasia
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m... OMIM:100800
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Prominent nasal bridge, Micrognathia, Cryptorchidism, Orofacial cleft, Wide mouth, Widely-spaced ... ORPHA:502434
Fanconi Anemia
Abnormal eyelid morphology, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, ... ORPHA:84
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Abnormal natural killer cell count, Hepatitis, Lymphadenopathy, Anemi... ORPHA:158061
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Telangiectasia, Coarctation of aorta, Cirrhosis, Thrombocytopenia ORPHA:101028
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment, Narrow mouth OMIM:132450
12Q14 Microdeletion Syndrome
Short stature, Ectopic kidney, Tremor, Abnormality of the spleen, Osteopoikilosis, Synophrys, Ren... ORPHA:94063
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Limb joint contracture, Short stature, Ataxia, Tapered finger, Postural tremor, Spl... OMIM:301072
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Abnormal bleeding, Hepatomegaly, Coronary artery atherosclerosis, Short stature, Atax... ORPHA:77293
Mycophenolate Mofetil Embryopathy
Micrognathia, Hypertelorism, Tracheoesophageal fistula, Orofacial cleft, Bifid thoracic vertebrae... ORPHA:268249
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Thoracic scoliosis, Broad-based gait, Short stature, Ataxia, Tremor, Small hand, Truncal ataxia, ... OMIM:610185
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Transient ischemic attack, Parkinsonism, Ataxia, Paralysis, Paraparesis, Int... ORPHA:140989
Meckel Syndrome
Low-set, posteriorly rotated ears, Encephalocele, Anophthalmia, Pancreatic fibrosis, Aplasia/Hypo... ORPHA:564
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Wide mouth, Wide nose OMIM:113477
Sitosterolemia 1
Abnormal bleeding, Reticulocytosis, Coronary artery atherosclerosis, Carotid artery stenosis, Thr... OMIM:210250
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Epicanthus, Thick eyebrow, Postnatal growth retardation, Tremor, Synophrys, Prominent protruding ... ORPHA:480907
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Nep... OMIM:301000
Nasal Bones, Absence Of
Short columella, Narrow naris OMIM:161480
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Weight loss, Lymphadenopathy, Arthritis ORPHA:42642
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... ORPHA:93672
Fanconi Anemia, Complementation Group B
Death in infancy, Aplastic anemia, Absent thumb, Short neck, Patent ductus arteriosus, Abnormal l... OMIM:300514
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Sacral dimple, Failure to thrive in infancy, Short stat... ORPHA:261323
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nose, Hypertelorism, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Bi... ORPHA:2399
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Protruding ear, High palate, Wi... ORPHA:192
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Immunodeficiency 22
Pericarditis, Failure to thrive, Abscess, Recurrent upper respiratory tract infections, Capillary... OMIM:615758
Cowden Syndrome 5
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Goiter, Furrowed tongue, ... OMIM:615108
Bor Syndrome
Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... ORPHA:107
Intellectual Developmental Disorder, Autosomal Dominant 61
Thin upper lip vermilion, Prominent nasal bridge, Hypertelorism, Wide nasal bridge, Wide mouth, S... OMIM:618009
Myoclonic-Astatic Epilepsy
Thin upper lip vermilion, Anteverted nares, Thick lower lip vermilion, Wide nasal bridge, Wide mo... ORPHA:1942
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Dystonia, Petechiae, Short stature, Splenomegaly, Inability to walk, Vasculitis, Ca... OMIM:225750
Hellp Syndrome
Back pain, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Ce... ORPHA:244242
Adams-Oliver Syndrome 2
Depressed nasal bridge, Hypertelorism, Micrognathia, Bulbous nose, Protruding ear, Low-set ears, ... OMIM:614219
Oral Submucous Fibrosis
Trismus, Abnormal oral cavity morphology, Cheilitis, Narrow mouth ORPHA:357154
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Reticulocytosis, Tachycardia, Macrocytic anemia, Proteinuria, Pancytopenia, Me... ORPHA:35858
Momo Syndrome
Delayed eruption of teeth, Underfolded helix, Short neck, Hypertelorism, Bilateral microphthalmos... ORPHA:2563
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome
Abnormal pinna morphology, Wide mouth, Macroglossia, Abnormal lumbar spine morphology, High palat... ORPHA:280384
Blepharophimosis-Impaired Intellectual Development Syndrome
Thin upper lip vermilion, Wide nose, Exaggerated cupid's bow, Posteriorly rotated ears, Anteverte... OMIM:619293
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Micrognathia, Hypotelorism, Protruding ear, Deeply set eye, Oligodontia, High palate, Short philt... OMIM:309590
Lathosterolosis
Abnormal thoracic spine morphology, Hypoplasia of penis, Toe syndactyly, Epicanthus, Hepatomegaly... ORPHA:46059
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Death in childhood, Intrauterine growth retardation, Micropenis, Failure to thriv... OMIM:615597
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Stillbirth OMIM:152800
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Hypertelorism, Broad ... ORPHA:466950
Dyskeratosis Congenita
Abnormality of neutrophils, Hyperhidrosis, Intrauterine growth retardation, Hepatomegaly, Short s... ORPHA:1775
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Pneumonia, Increased circulating IgE level, T lymphocytopenia, ... ORPHA:217390
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia, Narrow mouth OMIM:614833
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Abnormal pinna morphology, Ovoid vertebral bodies, Intestinal malrotati... OMIM:244450
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Short stature, Ectopic kidney, Absent thumb, Thrombocyto... OMIM:600901
Chédiak-Higashi Syndrome
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Abnormal bl... ORPHA:167
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Paralysis, Recurre... ORPHA:36382
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Low-set ears... ORPHA:2470
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Decreased circulating parathyroid hormone level, Bo... OMIM:241530
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis, Goiter OMIM:617175
Seckel Syndrome
Sandal gap, Short stature, Craniosynostosis, Cachexia, Cone-shaped epiphysis, Joint hyperflexibil... ORPHA:808
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Ankle swelling, Leukocytosis, Cervical lymphadenopathy, Oliguria, Centr... ORPHA:514
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal bleeding, Lymphopenia, Clinodactyly of the 5th finger, Decreased circulating antibody level ORPHA:1116
Lujo Hemorrhagic Fever
Shock, Lymphopenia, Renal insufficiency, Stiff neck, Resting tremor, Excessive bleeding after a v... ORPHA:319213
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Hepatic fibrosis, Talip... OMIM:616719
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... OMIM:600081
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Glossoptosis, Platyspondyly, Dela... ORPHA:93346
Brain Small Vessel Disease 2
Intracranial hemorrhage, Growth delay, Spastic tetraplegia, Hemiplegia OMIM:614483
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Decreased proportion of naive T ... ORPHA:276
Trichothiodystrophy 3, Photosensitive
Natal tooth, Carious teeth, Bilateral cryptorchidism, Pyloric stenosis, Hypotelorism, Low-set ear... OMIM:616395
Saul-Wilson Syndrome
Enlarged epiphyses, Short metatarsal, Irregular vertebral endplates, Overtubulated long bones, Ne... OMIM:618150
Deeah Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Short neck,... OMIM:619004
2Q31.1 Microdeletion Syndrome
Micrognathia, Short neck, Kyphosis, Deep philtrum, Hypertelorism, Optic disc coloboma, Cryptorchi... ORPHA:251014
Reactive Arthritis
Aortic regurgitation, Pericarditis, Osteomyelitis, Abnormal pleura morphology, Joint stiffness, C... ORPHA:29207
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Stroke, Gait disturbance, Dystonia,... ORPHA:542310
Rere-Related Neurodevelopmental Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Micrognathia, Cryptorchidis... ORPHA:494344
Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, ... ORPHA:98853
Craniotelencephalic Dysplasia
Low-set, posteriorly rotated ears, Microphthalmia, Septo-optic dysplasia, Frontal encephalocele ORPHA:1528
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Short neck, Downturned corners of mouth, Periodontitis, Iri... ORPHA:955
Refractory Anemia With Excess Blasts
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... ORPHA:86839
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Abnormal pinna morphology, Choanal atresia, Absent tragus, Hypertelor... OMIM:603457
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Brain Malformations With Or Without Urinary Tract Defects
Thin upper lip vermilion, Anteverted nares, Low-set ears, Narrow mouth, Overfolded helix, Short nose OMIM:613735
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Cryptorchidism, Wide nasal bridge, Abnormality of primary teeth, Gingivitis, Narr... ORPHA:75496
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Short stature,... ORPHA:647
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo... ORPHA:774
Fusariosis
Brain abscess, Osteomyelitis, Lung abscess, Pneumonia, Abnormality of the spleen, Peritonitis, Hy... ORPHA:228119
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumo... OMIM:242700
Noonan Syndrome 14
Aortic regurgitation, Lymphopenia, Epicanthus, Lacrimal duct stenosis, Short stature, Short neck,... OMIM:619745
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Epicanthus, Small for gestational age, Short stature, Incoordination,... OMIM:277380
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Joint stiffness, Flexion contracture, Weight loss, Reduced bone mineral density, Athero... ORPHA:1979
Mucolipidosis Type Ii
Knee flexion contracture, Abnormal long bone morphology, Shallow orbits, Telangiectases of the ch... ORPHA:576
Alazami Syndrome
Wide nose, Wide mouth, Deeply set eye, Thick vermilion border, Short philtrum, Widely spaced teet... ORPHA:319671
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Depressed nasal bridge, Short neck, Hypertelorism, Low posterior hairline, Downturned corners of ... OMIM:300860
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Crescentic glomerulonephritis, Arthritis, Hemosiderin... OMIM:616414
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia, Hypotelorism OMIM:218670
Microphthalmia, Isolated, With Coloboma 9
Macular coloboma, Hypertelorism, Low-set ears, Long philtrum, Microphthalmia, Macrotia, Iris colo... OMIM:615145
Fanconi Anemia, Complementation Group D2
Ectopic kidney, Reticulocytopenia, Aplasia of the 1st metacarpal, Neutropenia, Micropenis, Pelvic... OMIM:227646
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... OMIM:619463
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Pulmonary artery stenos... OMIM:617237
Arthrogryposis, Distal, Type 2B2
Narrow mouth OMIM:618435
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Ataxia, Cachexia, Methylmalonic aciduria, Aminoaciduria, Ptosis ORPHA:1933
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Bronchiectasis, Weight loss, Pulmonary arterial hypertension, Emp... ORPHA:1164
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Short stature, Kyphoscoliosis, Synophrys, 2-3 toe syndactyly, Scoliosis, Lymphopenia ORPHA:391307
Holoprosencephaly 7
Hypotelorism, Hypoplastic nasal septum, Shallow orbits, Iris coloboma, Median cleft palate, Hypop... OMIM:610828
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Neutropenia, Abnormal pulmonary int... OMIM:617050
Fraser Syndrome 2
Wide nose, Intestinal malrotation, Short neck, Underdeveloped nasal alae, Rectal atresia, Hypopla... OMIM:617666
Cerebrofacioarticular Syndrome
Irregular dentition, Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Hypertelorism, Bilat... ORPHA:314679
Kawasaki Disease
Pericarditis, Proteinuria, Recurrent pharyngitis, Myocarditis, Congestive heart failure, Vasculit... ORPHA:2331
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Fanconi Anemia, Complementation Group A
Pancytopenia, Small for gestational age, Short stature, Ectopic kidney, Absent thumb, Thrombocyto... OMIM:227650
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Short stature, Ataxia, Anemia, Hypertonia, Bone marrow hypocellula... ORPHA:3322
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Autoimmune hemolyti... OMIM:243150
2Q23.1 Microduplication Syndrome
Thin upper lip vermilion, Dental crowding, Abnormality of the dentition, Prominent nose, Bulbous ... ORPHA:313947
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Reduced bone mineral density, Emphysema, Hepatic steatosis, Joint laxity, Short statu... OMIM:613658
Rodrigues Blindness
Narrow nasal bridge, Microphthalmia, Tooth malposition, Protruding ear OMIM:268320
Lethal Congenital Contracture Syndrome 7
Distal arthrogryposis, Paralysis, Knee flexion contracture OMIM:616286
Microphthalmia, Syndromic 9
Anophthalmia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Wide nasal bridge, Low-set ... OMIM:601186
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Short stature, Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Congen... ORPHA:280679
Ramos-Arroyo Syndrome
Aganglionic megacolon, Anteverted nares, Depressed nasal bridge, Hypertelorism, Carious teeth, Na... ORPHA:1051
Short Stature, Microcephaly, And Endocrine Dysfunction
Ectopic kidney, Dysmetria, Micropenis, Hypothyroidism, Short stature, Ataxia, Cryptorchidism, Dil... OMIM:616541
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Wide nose, Micrognathia, Protruding tongue, Short neck, Sensorineural hearing i... OMIM:608779
Tarp Syndrome
Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the radius, Subdural hemorrhage, Tetralo... OMIM:311900
Cowden Syndrome 6
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Goiter, Furrowed tongue, ... OMIM:615109
Deafness, X-Linked 7
Posteriorly rotated ears, Wide nasal bridge, Unilateral microphthalmos, Atresia of the external a... OMIM:301018
Cohen Syndrome
Macrodontia, Aplasia/Hypoplasia of the tongue, Prominent nasal bridge, Micrognathia, Hypoplasia o... ORPHA:193
Autosomal Spastic Paraplegia Type 18
Abnormal pinna morphology, Spinal rigidity, Neck joint contracture, Wide mouth, Macroglossia, Abn... ORPHA:209951
Fetal Hydantoin Syndrome
Low-set, posteriorly rotated ears, Thickened nuchal skin fold, Abnormal pinna morphology, Hyperte... ORPHA:1912
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis ORPHA:66661
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Absent gallbladder, Abnormal pinna morphology, Depressed nasal bridge, Hamartoma of ... OMIM:617925
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Holoprosencephaly OMIM:617967
Acyl-Coa Dehydrogenase 9 Deficiency
Dicarboxylic aciduria, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dil... ORPHA:99901
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Micrognathia, Bulb... OMIM:614114
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Proximal placement of thumb, Synophrys, Flexion contracture, Hypospadias, Increased mean platelet... ORPHA:487796
Avian Influenza
Lymphopenia, Miscarriage, Pneumonia, Congestive heart failure, Pneumothorax, Hepatitis, Leukopeni... ORPHA:454836
Oculodentodigital Dysplasia
Narrow nasal bridge, Abnormal pinna morphology, Selective tooth agenesis, Anteverted nares, Cleft... OMIM:164200
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, An... OMIM:164210
Fetal Akinesia Deformation Sequence 1
Posteriorly rotated ears, Micrognathia, Short neck, High, narrow palate, Hypertelorism, Cryptorch... OMIM:208150
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis du... ORPHA:572
Bartsocas-Papas Syndrome
Median cleft lip, Underdeveloped nasal alae, Micrognathia, Cleft palate, Narrow mouth, Short nose ORPHA:1234
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Esophageal atresia, Deeply set eye, Microphthalmia, Smooth philtrum OMIM:614526
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... ORPHA:101112
Atypical Werner Syndrome
Sclerosis of hand bone, Abnormal cerebral vascular morphology, Reduced bone mineral density, Fing... ORPHA:79474
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Micrognathia, Prominent nose, Hemivertebrae, Depressed nasal ridge, Protru... OMIM:156200
Polycythemia Vera
Myelofibrosis, Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hype... ORPHA:729
Nanophthalmos 4
Microphthalmia OMIM:615972
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Abnormal metacarpophalangeal joint morphology, Hepatomegaly, Cholangiocarcinoma, Por... ORPHA:465508
Immunodeficiency 31C
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anem... OMIM:614162
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Thin upper lip vermilion, Anal stenosis, Depressed nasal bridge, Optic nerve hypoplasia, Microgna... OMIM:620029
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Greenberg Dysplasia
Micromelia, Multiple prenatal fractures, Patchy variation in bone mineral density, Abnormal lung ... OMIM:215140
Primary Intestinal Lymphangiectasia
Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Weight loss, Decreased ci... ORPHA:90362
Van Den Ende-Gupta Syndrome
Sacral dimple, Dental crowding, Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, H... OMIM:600920
Martsolf Syndrome 1
Thoracic scoliosis, Lumbar hyperlordosis, Posteriorly rotated ears, Depressed nasal bridge, Micro... OMIM:212720
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Fontaine Progeroid Syndrome
Mandibular prognathia, Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodontia, Co... OMIM:612289
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Short neck, Reticulocytopenia, Leukopenia, Triphala... ORPHA:124
White-Sutton Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Short neck, Hypertelo... ORPHA:468678
Spastic Paraplegia 52, Autosomal Recessive
Hypertelorism, Prominent nose, Bulbous nose, Wide nasal bridge, Wide mouth, Thick vermilion borde... OMIM:614067
Sézary Syndrome
Hepatomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Tremor, Splenomegaly, Ly... ORPHA:3162
Desmosterolosis
Low-set, posteriorly rotated ears, Depressed nasal bridge, Intestinal malrotation, Micrognathia, ... ORPHA:35107
Intellectual Developmental Disorder, Autosomal Dominant 47
Prominent nasal bridge, Supernumerary nipple, Cryptorchidism, Increased nuchal translucency, Wide... OMIM:617635
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Non-Functioning Paraganglioma
Cerebral hemorrhage, Elevated urinary norepinephrine level, Tremor, Congestive heart failure, Epi... ORPHA:94080
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Abnormal pinna morphology, Depress... ORPHA:35173
Meier-Gorlin Syndrome 4
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Thick lower lip vermilion, Microtia, Low... OMIM:613804
Ebola Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Hepatitis, Melena, Leukopenia... ORPHA:319218
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Encephalocele, Hamartoma of tongue, Hypertelorism, Prominent nose... OMIM:616300
Dentici-Novelli Neurodevelopmental Syndrome
Thin upper lip vermilion, Prominent nasal bridge, Hypertelorism, Wide mouth, Widely spaced teeth,... OMIM:619877
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Megaloblastic anemia, Intraventricular hemorrhage, Methylmalonic acidu... ORPHA:79284
Huntington Disease-Like 2
Weight loss OMIM:606438
Myhre Syndrome
Mandibular prognathia, Thin upper lip vermilion, Vertebral fusion, Prominent nasal bridge, Short ... OMIM:139210
Atelis Syndrome 2
Sacral dimple, Remnants of the hyaloid vascular system, Micrognathia, Diastema, Kyphosis, Promine... OMIM:620185
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ... OMIM:264700
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Short neck, Large fleshy ears, High palate, Prominent superior crus o... ORPHA:280633
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Eyelid coloboma, Long hallux, Broad hallux pha... ORPHA:2308
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ... OMIM:612260
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... ORPHA:88
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Decreased heart rate variability, Highly arched... OMIM:619005
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Neoplasm of the pancreas, Brachydactyly, Multiple joint contractures, Hypospadias, Th... ORPHA:2959
Bainbridge-Ropers Syndrome
Dental crowding, Micrognathia, Deeply set eye, High palate, Choanal stenosis, Death in infancy, A... OMIM:615485
Mogs-Cdg
Hepatomegaly, Thoracic scoliosis, Pulmonary edema, Short palpebral fissure, Hepatosplenomegaly, D... ORPHA:79330
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Epicanthus, Sandal gap, Dysgammaglobuli... OMIM:251260
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Patent ductus arteriosus, Anemia, Thrombocytopenia ORPHA:2123
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Mandibular prognathia, Lip pit, Hypertelorism, Supernumerary nipple, Large earlobe, Hypodontia, S... ORPHA:1236
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Ataxia, Sudden cardiac death, P... OMIM:610198
Nicolaides-Baraitser Syndrome
Narrow nasal bridge, Thick nasal alae, Anteverted nares, High, narrow palate, Cryptorchidism, Wid... ORPHA:3051
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ... OMIM:277440
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Biliary hyperplasia, Micropenis, Pancreatic hypoplasia, Hepatomegaly, A... ORPHA:83617
Shigellosis
Failure to thrive in infancy, Abscess, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Leukocy... ORPHA:810
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Myocardial infarction, Abnormal lung morphology, Parapro... ORPHA:91139
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Microphthalmia, Cryptorchidism, Death in infancy OMIM:613730
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Micrognathia, Abnormal vertebral morphology, Iris col... ORPHA:536471
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Aganglionic megacolon, Prominent nasal bridge, Narrow mouth ORPHA:261222
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Short neck, Tremor, Flexion contracture, Choreoathetosis, Wrist flexion contracture, Ataxia, Park... OMIM:300055
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Tremor, Flexion contracture, Renal cyst, Dysmetria, Hepatic fibrosis, Death in childh... OMIM:212065
Eosinophilic Granulomatosis With Polyangiitis
Renal insufficiency, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Proteinuria,... ORPHA:183
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Uplifted earlobe, High, narrow palate, Pro... OMIM:613406
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Bowing of the legs, Delayed epiphysea... OMIM:300554
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Hypertelorism, Short neck, Kyphosis, Wide mouth, Low-set ears, Long philt... OMIM:608776
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Bronchiecta... OMIM:616576
Pseudo-Torch Syndrome 1
Hepatomegaly, Renal insufficiency, Petechiae, Splenomegaly, Patent ductus arteriosus, Jaundice, D... OMIM:251290
Congenital Enterovirus Infection
Abnormal bleeding, Abnormal macrophage morphology, Myocarditis, Leukocytosis, Thrombocytopenia, H... ORPHA:292
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Depressed nasal bridge, Micrognathia, Spinal rigidity, K... ORPHA:2062
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Talipes... OMIM:607143
Mucopolysaccharidosis, Type Vii
Short neck, Flexion contracture, Narrow greater sciatic notch, Anterior beaking of lumbar vertebr... OMIM:253220
Multiple Pterygium Syndrome, Escobar Variant
Thoracolumbar scoliosis, Micrognathia, Short neck, Kyphosis, Hypertelorism, Cryptorchidism, Denta... OMIM:265000
Holocarboxylase Synthetase Deficiency
Ataxia, Weight loss, Growth delay, Keratoconjunctivitis, Organic aciduria, Thrombocytopenia ORPHA:79242
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Short stature, Ataxia, Postnatal growth retardation, Osteoporosis, Rickets, Th... OMIM:212750
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Ataxia, Portal hypertensi... OMIM:615688
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Eyelid myoclonus, Increased m... OMIM:613839
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Short stature, Hashimoto thyroiditis, Cachexia, Telangiectasia, Intracranial hem... ORPHA:109
Cockayne Syndrome Type 3
Mild postnatal growth retardation, Flexion contracture, Intention tremor, Hepatomegaly, Renal hyp... ORPHA:90324
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Aplasia of the nasal bone, Prominent nasal bridge, Micrognathia, Hypop... OMIM:601812
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Vestibular areflexia, Spastic tetraplegia, Hypochromic microcytic anemia, Growth... ORPHA:3240
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Tufted Angioma
Petechiae, Thrombocytopenia, Hyperhidrosis, Anemia, Purpura ORPHA:1063
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Cleft palate, Fused... OMIM:618469
Legionnaires Disease
Pericarditis, Renal insufficiency, Proteinuria, Ataxia, Abnormal pleura morphology, Myocarditis, ... ORPHA:549
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Persistence of primary teeth, Conical tooth, Dental malocclusion, Wide nasal bridge, Oligodontia,... OMIM:618727
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Thin upper lip vermilion, Hypertelorism, Diastema, Cryptorchidism, Bulbous nose, Protruding ear, ... ORPHA:329224
22Q11.2 Deletion Syndrome
Impaired T cell function, Abnormal eyelid morphology, Short neck, Abnormal lung lobation, Abnorma... ORPHA:567
3Q29 Microdeletion Syndrome
Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Orofacial cleft, High pala... ORPHA:65286
Cataract 9, Multiple Types
Microphthalmia, Iris coloboma OMIM:604219
Stt3B-Cdg
Cryptorchidism, Intrauterine growth retardation, Micropenis, Failure to thrive, Thrombocytopenia ORPHA:370924
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Paralysis, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytop... ORPHA:83601
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Epicanthus, Short stature, Thrombocytopenia, Bilateral ptosis, En... OMIM:619743
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic kidney disease... OMIM:613845
Dural Sinus Malformation
Ataxia, Parkinsonism, Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Poor c... ORPHA:97339
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Vasculitis, Recurrent pneumonia, Decreased mean platelet volume, Lympha... OMIM:617718
Schuurs-Hoeijmakers Syndrome
Thin upper lip vermilion, Hypertelorism, Diastema, Cryptorchidism, Bulbous nose, Downturned corne... OMIM:615009
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... ORPHA:244
Noonan Syndrome 13
Posteriorly rotated ears, Anteverted nares, Micrognathia, Short neck, Hypertelorism, Cryptorchidi... OMIM:619087
Sepsis In Premature Infants
Abnormal bleeding, Hepatomegaly, Tachycardia, Small for gestational age, Thrombocytopenia, Leukoc... ORPHA:90051
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormal lung morphology... ORPHA:54251
Menkes Disease
Venous insufficiency, Chorea, Intracranial hemorrhage, Hypertonia, Osteoporosis, Joint hyperflexi... ORPHA:565
Recon Progeroid Syndrome
Joint laxity, Arachnodactyly, Short stature, Proximal placement of thumb, Absent lower eyelashes,... OMIM:620370
Fryns-Smeets-Thiry Syndrome
Arachnodactyly, Short stature, Cachexia, Patellar aplasia, Hip dislocation, Joint hyperflexibilit... ORPHA:2058
Jacobsen Syndrome
Missing ribs, Short neck, Pyloric stenosis, Hydrocephalus, Flexion contracture, Holoprosencephaly... OMIM:147791
Igg4-Related Aortitis
Low back pain, Thoracic aortic aneurysm, Increased circulating IgG4 level, Increased circulating ... ORPHA:449400
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Microretrognathia, Abnormal pinna morphology, Hypoplastic nipples, Narrow mouth, Malar flattening OMIM:177980
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Knee flexion contractur... ORPHA:3103
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Non-midline cleft lip, Sensorineural hearing impairment, ... ORPHA:2549
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Tremor, Polyminimyoclonus, Impaired tandem gait, Fasciculations, Scoliosis, Vocal... OMIM:619574
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Hypoglossia-Hypodactyly Syndrome
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Wide nasal bri... ORPHA:989
Noonan Syndrome 5
Mandibular prognathia, Depressed nasal bridge, Hypertelorism, Short neck, Cryptorchidism, Wide mo... OMIM:611553
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Patent ductus arteriosus, Spastic diplegia, Downslanted palpebral... OMIM:300048
Eosinophilic Fasciitis
Arthritis, Abnormal eosinophil morphology, Eosinophilia, Weight loss ORPHA:3165
Hallermann-Streiff Syndrome
Natal tooth, Choanal atresia, Micrognathia, Abnormality of the dentition, High, narrow palate, Su... ORPHA:2108
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Abnormal pinna morphology, Spina bifida, Micrognathia, Bilateral microphtha... ORPHA:2839
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Kyphoscoliosis, Hyp... OMIM:620075
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells OMIM:619693
Intellectual Developmental Disorder, X-Linked 103
Wide mouth, Bilateral cryptorchidism, Anteverted nares OMIM:300982
Wilson Disease
Tremor, Osteoarthritis, Hand tremor, Aminoaciduria, Limb dystonia, Hepatic steatosis, Hypoparathy... OMIM:277900
Acute Radiation Syndrome
Abnormal bleeding, Telangiectasia, Interstitial pneumonitis, Granulocytopenia, Hypotension, Lymph... ORPHA:454831
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Ovoid vertebral bodies, Grayish enamel, Carious teeth, Short neck, Hyperlo... OMIM:253000
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... ORPHA:545
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microretrognathia, Low-set, posteriorly rotated ears, Optic nerve hypoplasia, Prominent nasal bri... ORPHA:468631
Atypical Rett Syndrome
Dystonia, Involuntary movements, Tremor, Kyphosis, Inability to walk, Small hand, Limb myoclonus,... ORPHA:3095
Stickler Syndrome
Joint dislocation, Osteoarthritis, Abnormal form of the vertebral bodies, Reduced bone mineral de... ORPHA:828
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Congenital hip dislocation, Synophrys, Knee dislocation, Shoulder dislocation, Antena... ORPHA:536545
Lambert Syndrome
Wide mouth, Malar flattening OMIM:245550
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Depressed nasal bridge, Micrognathia, H... OMIM:613457
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Renal insufficiency, Ketonuria, Ataxia, Pulmonary embolism, Hemolytic-uremic syndrome, Megaloblas... ORPHA:79282
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Short stature, Ataxia, Tremor, Splenomegaly, In... ORPHA:812
Ssr4-Cdg
Abnormality of upper lip vermillion, Wide mouth, Deeply set eye, Widely spaced teeth, Scoliosis, ... ORPHA:370927
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Cerebral hemorrhage, Gait disturbance, Stroke, Myoclonus ORPHA:324708
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Depressed nasal bridge, Hypertelorism, Downturned corners of mouth, Wide mouth, Short philtrum OMIM:619759
Biemond Syndrome Type 2
Microphthalmia, Coloboma ORPHA:141333
Periventricular Nodular Heterotopia 1
Syndactyly, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Short finger, Clinodactyly OMIM:300049
Familial Thrombocytosis
Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Miscarriage... ORPHA:71493
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Castleman Disease
Myelofibrosis, Renal insufficiency, Generalized lymphadenopathy, Follicular hyperplasia, Thromboc... ORPHA:160
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Peripheral arteriovenous fist... ORPHA:90308
Galloway-Mowat Syndrome 3
Micrognathia, Hypertelorism, Hiatus hernia, Deeply set eye, High palate, Low-set ears, Narrow mou... OMIM:617729
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Ectopic kidney, Short neck, Micromelia, Synophrys, Renal cyst, Hyper... OMIM:122470
Nager Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Abnormal nasal morpho... ORPHA:245
Hennekam Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Depressed... ORPHA:2136
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Exaggerated cupid's bow, Posteriorly rotated ears, Narrow nasal ridge, Mic... OMIM:619512
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... OMIM:153670
Focal Dermal Hypoplasia
Anophthalmia, Cleft ala nasi, Anteriorly placed anus, Oligodontia, Chorioretinal coloboma, Spina ... OMIM:305600
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume OMIM:615193
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Exaggerated cupid's bow, Posteriorly rotated ears, Spina bifida, Hypertelorism, Broa... OMIM:619480
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Underdeveloped superior crus of antihelix,... ORPHA:369950
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Severe short stature, Ataxia, Abnormal atrioventricular conduction,... ORPHA:3208
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Macrodontia, Thoracolumbar kyphoscoliosis, Posteriorly rotated ears, Protr... OMIM:212066
Marfan Syndrome
Osteopenia, Limited elbow movement, Emphysema, Arachnodactyly, Osteoporosis, Dilatation of an abd... ORPHA:558
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Coloboma, Long philtrum OMIM:615877
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Epistaxis, Joint hemorrhage, Prolo... ORPHA:465
Fanconi Anemia, Complementation Group V
Short stature, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Spastic Paraplegia 47, Autosomal Recessive
Bulbous nose, Wide nasal bridge, Wide mouth, High palate, Short philtrum OMIM:614066
Neurodevelopmental Disorder With Spasticity And Poor Growth
Tented upper lip vermilion, Anteverted nares, Hypertelorism, Prominent nose, High, narrow palate,... OMIM:618076
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Optic nerve hypoplasia, Micrognathia, Hypertelo... ORPHA:363686
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Mixed hearing impairment, Cleft upper lip, Hypertelorism, Wide nasal bridg... OMIM:201180
Quebec Platelet Disorder
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... OMIM:601709
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Underfolded helix, Depressed nasal bridge, Kyph... OMIM:268400
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Frank-Ter Haar Syndrome
Redundant neck skin, Anterior concavity of thoracic vertebrae, Abnormally large globe, Micrognath... OMIM:249420
Marburg Hemorrhagic Fever
Back pain, Leukopenia, Conjunctival hyperemia, Abnormal lymphocyte morphology, Internal hemorrhag... ORPHA:99826
Cousin Syndrome
Posteriorly rotated ears, Hearing impairment, Micrognathia, Short neck, Hypertelorism, Prominent ... OMIM:260660
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Micrognathia, Hypotelorism, Deeply set eye, Coloboma, High palate, Lumbar hyperlordosis, Antevert... OMIM:616975
Barber-Say Syndrome
Delayed eruption of teeth, Abnormal pinna morphology, Anteverted nares, Hypertelorism, Bulbous no... ORPHA:1231
Lacrimoauriculodentodigital Syndrome
Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal s... ORPHA:2363
Frontofacionasal Dysplasia
Cleft upper lip, Hypertelorism, Underdeveloped nasal alae, Short nose, Orofacial cleft, Midline d... OMIM:229400
Wild Type Attr Amyloidosis
Abnormal EKG, Renal insufficiency, Hepatomegaly, Proteinuria, Myocardial infarction, Congestive h... ORPHA:330001
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decrea... OMIM:616084
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Short neck, Micrognathia, Hypertelorism, Esophageal atresia, Tracheoesophagea... OMIM:614083
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Microglossia, Narrow mouth ORPHA:1972
Charge Syndrome
Anophthalmia, Decreased response to growth hormone stimulation test, Micrognathia, Hemivertebrae,... OMIM:214800
Cowden Syndrome 1
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Goiter, Furrowed tongue, ... OMIM:158350
Holoprosencephaly 11
Holoprosencephaly, Cleft palate OMIM:614226
Fg Syndrome Type 1
Dental crowding, Micrognathia, Prominent nose, Fused teeth, High palate, Hypertelorism, Malrotati... ORPHA:93932
Intellectual Developmental Disorder, Autosomal Dominant 57
Thin upper lip vermilion, Posteriorly rotated ears, Prominent nasal bridge, Hypertelorism, Broad ... OMIM:618050
Thrombocytopenia 6
Myelofibrosis, Spontaneous, recurrent epistaxis, Abnormal bleeding, Osteoporosis, Thrombocytopenia OMIM:616937
Tolchin-Le Caignec Syndrome
Hypertelorism, Micrognathia, Prominent nose, Sensorineural hearing impairment, Submucous cleft ha... OMIM:618971
Thymoma
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte proliferation, Ab... ORPHA:99867
Cerebrofaciothoracic Dysplasia
Low-set, posteriorly rotated ears, Wide nose, Short neck, Cleft upper lip, Hypertelorism, Hemiver... ORPHA:1394
Vertebral Hypersegmentation And Orofacial Anomalies
Submucous cleft hard palate, Supernumerary ribs, Six lumbar vertebrae, Unilateral cleft palate, J... OMIM:619122
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland, Cleft palate, Cleft upper lip OMIM:614402
Meier-Gorlin Syndrome 2
Abnormal pinna morphology, Micrognathia, Underdeveloped nasal alae, Microtia, Narrow mouth, Breas... OMIM:613800
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Prominent nasal tip, Tented upper lip vermilion, Exaggerated cupid's bow, ... ORPHA:464738
Perry Syndrome
Weight loss ORPHA:178509
Immunodeficiency 17
Death in infancy, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... OMIM:615607
Mucopolysaccharidosis Type 4
Anteverted nares, Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth,... ORPHA:582
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Short neck, Hyperlordosis, Delayed epiphyseal ossification, Premature osteoarthriti... ORPHA:93352
Barber-Say Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,... OMIM:209885
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Depressed nasal ridge, Platyspondyly, Low-set ears, Microphthalmia, Short nose OMIM:300863
Maternal Uniparental Disomy Of Chromosome 6
Miscarriage, Hydrocele testis, Slender long bone, Intrauterine growth retardation, Congenital adr... ORPHA:96181
48,Xxyy Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Epicanthus, Ataxia, Blepharophimosis, Trem... ORPHA:10
Vexas Syndrome
Macrocytic anemia, Chondritis of pinna, Nasal chondritis, Arthritis, Arteritis, Thrombocytopenia OMIM:301054
Oculocerebral Hypopigmentation Syndrome, Cross Type
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Sensorineural hearing impairment, Narro... ORPHA:2719
Warburg Micro Syndrome 3
Kyphoscoliosis, Micrognathia, Narrow palate, Downturned corners of mouth, Microphthalmia, Short n... OMIM:614222
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Posteriorly rotated ears, Protruding tongue, Hypertelorism, Broad nasal tip, Sub... OMIM:618106
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mandibular prognathia, Abnormal pinna morphology, Depressed nasal bridge, Kyphosis, Cryptorchidis... OMIM:300354
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Gingival overgrowth, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, N... OMIM:230600
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Horner Syndrome, Congenital
Paralysis OMIM:143000
Common Variable Immunodeficiency
Hemolytic anemia, Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Auto... ORPHA:1572
Ogden Syndrome
Congenital hip dislocation, Abnormal eyelid morphology, Short neck, Microvesicular hepatic steato... OMIM:300855
Double Outlet Right Ventricle
Hypoparathyroidism, Depressed nasal bridge, Intestinal malrotation, Hypertelorism, Abnormality of... ORPHA:3426
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Transient ischemic attack, Proteinuria, Myocardial infarction, Hemolytic-uremic ... OMIM:274150
Fountain Syndrome
Craniofacial hyperostosis, Spina bifida, Hypertelorism, Kyphosis, Sensorineural hearing impairmen... ORPHA:3219
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Aicardi-Goutières Syndrome
Multiple joint contractures, Tremor, Abnormal pyramidal sign, Eyelid coloboma, Hypertonia, Microp... ORPHA:51
Infantile Krabbe Disease
Lower limb spasticity, Cachexia, Spastic diplegia, Opisthotonus, Abnormal heart rate variability,... ORPHA:206436
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Hemivertebrae, Anterio... OMIM:146510
Gaucher Disease, Type Ii
Hepatomegaly, Death in infancy, Double aortic arch, Rigidity, Splenomegaly, Bronchiolitis, Anemia... OMIM:230900
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Micrognathia, Lens coloboma, Cupped ear, Umbilical hernia, Webbed neck, Mi... OMIM:618914
Hereditary Folate Malabsorption
Recurrent respiratory infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased cir... ORPHA:90045
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Absent eyebrow, Hepatomegaly, Short stature, Splenomegaly, Jaundice... OMIM:263700
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Death in infancy, Dyst... OMIM:615512
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Head titubation, Kyphosis, Interstitial emphysema, Bronchiectasis, Dysmetria, Knee flexio... OMIM:619708
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Spinal dysraphism, Holopros... ORPHA:1908
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Osteomyelitis, Renal insufficiency, Glomerulonephritis, Abscess, Pneumonia, R... ORPHA:36234
De Barsy Syndrome
Delayed eruption of teeth, Kyphoscoliosis, Hypertelorism, Narrow mouth, Cryptorchidism, Deeply se... ORPHA:2962
16Q24.3 Microdeletion Syndrome
Proximal placement of thumb, Highly arched eyebrow, Cryptorchidism, Kyphosis, Dilated cardiomyopa... ORPHA:261250
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Supernumerary nipple, Micrognathia, Anteverted ears, Cryptorchidism, De... OMIM:613884
Mitochondrial Complex I Deficiency, Nuclear Type 20
Death in infancy, Dicarboxylic aciduria, Congestive heart failure, Microvesicular hepatic steatos... OMIM:611126
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Anteverted nares, Depressed nasal bridge, Micrognathia, Short neck, Hypertelori... OMIM:300868
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Recurrent respiratory infections, Renal insufficiency, Entropion, Dy... ORPHA:36426
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Abnormal blee... ORPHA:480520
Systemic Capillary Leak Syndrome
Pericarditis, Renal insufficiency, Myocarditis, Leukocytosis, Oliguria, Weight loss, Pleural effu... ORPHA:188
Intellectual Developmental Disorder, X-Linked 12
Joint laxity, Increased body mass index, Small for gestational age, Short stature, Tremor, Crypto... OMIM:300957
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Arachnodactyly, Recurrent fractures, Pulmonary embolis... ORPHA:394
Multiple Benign Circumferential Skin Creases On Limbs
Low-set, posteriorly rotated ears, Micrognathia, External ear malformation, Cryptorchidism, Cleft... ORPHA:2505
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Mend Syndrome
Thickened nuchal skin fold, Sacral dimple, Prominent nasal bridge, Abnormal auditory evoked poten... ORPHA:401973
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Hereditary Mucoepithelial Dysplasia
Hematuria, Recurrent respiratory infections, Pulmonary fibrosis ORPHA:1839
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Renal insufficiency, Epistaxis, Hematochezia, Cardiomyopathy, Gingival b... OMIM:203300
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Cardiac arrest, Eosinophilia, Myocarditis, Thyroiditis, Hepatitis, Lymphaden... ORPHA:139402
Loeys-Dietz Syndrome 6
Carotid artery dissection, Arachnodactyly, Thoracic aortic aneurysm, Knee osteoarthritis, Varicos... OMIM:619656
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Hy... OMIM:607812
Rift Valley Fever
Abnormal bleeding, Back pain, Miscarriage, Paralysis, Hematemesis, Thrombocytopenia, Jaundice, Pa... ORPHA:319251
Mosaic Trisomy 9
Intestinal malrotation, Spina bifida, Short neck, Micrognathia, Hypertelorism, Cryptorchidism, Bu... ORPHA:99776
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell subset distribution, Anemia, He... ORPHA:158048
Meckel Syndrome 14
Occipital encephalocele, Decreased calvarial ossification, Holoprosencephaly, Short neck OMIM:619879
Congenital Disorder Of Glycosylation, Type Iq
Depressed nasal bridge, Hypertelorism, Coloboma, Low-set ears, Microphthalmia OMIM:612379
Kaposi Sarcoma
Generalized lymphadenopathy, Venous insufficiency, Abnormality of the spleen, Abnormal lung morph... ORPHA:33276
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Mediastinal lymphadenopathy, Bro... ORPHA:169105
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Retrognathia, Hypoplasia of teeth, Microphthalmia, Short nose, Macrotia OMIM:234050
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Ataxia, Kyphosis, Vocal cord paralysis, Clumsiness, Ankle clonus, Tongue fascicul... OMIM:211530
Jansen-De Vries Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Hyperlordosis, Wide mouth, ... OMIM:617450
Short-Rib Thoracic Dysplasia 12
Intestinal malrotation, Hamartoma of tongue, Short neck, Hydrocephalus, Anencephaly, Lobulated to... OMIM:269860
Coffin-Siris Syndrome 5
Thin upper lip vermilion, Wide nose, Depressed nasal bridge, Thick lower lip vermilion, Wide mout... OMIM:616938
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Prolonged prothrombin ti... OMIM:277450
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Epistaxis, Bruising su... OMIM:601399
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Hypertelorism, Cryptorchidism, Wide nasal bridge, Downturned corners of... OMIM:618067
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Epicanthus, Failure to thrive, Short stature, Pneumonia, Bronchiectasis, T lymphocytopenia, Incre... OMIM:242860
Halperin-Birk Syndrome
Inability to walk, Flexion contracture, Spastic tetraplegia, Pseudobulbar paralysis, Hypertonia, ... OMIM:618651
Pleural Mesothelioma
Hepatomegaly, Abnormal pleura morphology, Abnormal lung morphology, Abnormal cardiovascular syste... ORPHA:50251
Severe Intellectual Disability And Progressive Spastic Paraplegia
Everted upper lip vermilion, Bulbous nose, Wide mouth, High palate, Short philtrum ORPHA:280763
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Long nose, Downturned... OMIM:618590
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Micrognathia, Short neck, Protruding ear, Deeply set eye, Microdontia... OMIM:613458
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Broad neck, Anteverted nares, Depressed nasal bridge, Short neck, Anterior scalloping of vertebra... OMIM:611717
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Ovarian fibroma, Kyp... OMIM:109400
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Short stature, Recurrent fractures, Thrombocytopenia, Enlarged tonsil... ORPHA:2785
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Flexion contracture, Increased circulating IgG level, Conjunctivitis, Hepatome... OMIM:256040
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, D... OMIM:300990
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Abnormality of the pancreas, Reduced bone mineral density, Agam... ORPHA:935
Distal Duplication 17Q
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Depressed nasal bridge, Micrognathia... ORPHA:3379
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Recurrent respiratory infecti... OMIM:232300
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... ORPHA:699
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Hypertelori... OMIM:227330
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Downturned corners of mout... ORPHA:1507
9Q33.3Q34.11 Microdeletion Syndrome
Wide nose, Abnormal pinna morphology, Epistaxis, Short neck, Cryptorchidism, Bulbous nose, Tented... ORPHA:495818
Microphthalmia, Syndromic 1
Anophthalmia, Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, High palate... OMIM:309800
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Overweight, Splenomegaly, Hypovolemia, Increased mean cor... ORPHA:90041
Ogden Syndrome
Microretrognathia, Everted upper lip vermilion, Torticollis, Underdeveloped nasal alae, High, nar... ORPHA:276432
Osteootohepatoenteric Syndrome
Proteinuria, Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Microvesic... OMIM:619377
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Ataxia, Elevated urinary dopamine level, Horner syndrome, A... OMIM:256700
Mosaic Trisomy 1
Microretrognathia, Thoracic scoliosis, Abnormal pinna morphology, Depressed nasal bridge, Increas... ORPHA:1692
Zaki Syndrome
Sacral dimple, Wide nose, Anteverted nares, Micrognathia, Cupped ear, Wide nasal bridge, Wide mou... OMIM:619648
8P Inverted Duplication/Deletion Syndrome
Anteverted nares, Micrognathia, Short neck, High, narrow palate, Hypertelorism, Macrotia, Abnorma... ORPHA:96092
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Cerebral palsy, Epistaxis, Spastic paraplegia, Nephrolithiasis, Intracranial... ORPHA:369929
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Bifid nasal tip, Unilateral microphthalmos, Bilateral cleft lip and pal... OMIM:618874
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Elevated circulatin... ORPHA:97287
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Ritscher-Schinzel Syndrome 4
Hypertelorism, Cryptorchidism, Wide nasal bridge, Narrow palate, Hypotelorism, Wide mouth, Deeply... OMIM:619435
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Ataxia, Hypothyroidism, Cryptorchidism, Stage 5 chronic... OMIM:617575
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... OMIM:617443
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Tremor, Methylmalonic aciduria, Dysmetria, Intrauterine growth retardation, Hy... OMIM:615578
Microphthalmia, Syndromic 6
Anophthalmia, Posteriorly rotated ears, Uplifted earlobe, Micrognathia, Cryptorchidism, Macrotia,... OMIM:607932
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Congenital hip dislocation, Microvesicular hepatic steatosis, Chorea, Reduced bone mineral densit... ORPHA:404454
Chromosome 18Q Deletion Syndrome
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Short neck, T... OMIM:601808
Chitayat Syndrome
Hallux valgus, Recurrent respiratory infections, Short stature, Abnormal pulmonary interstitial m... OMIM:617180
Combined Oxidative Phosphorylation Deficiency 14
Death in infancy, Copper accumulation in liver, Anemia, Growth delay, Aminoaciduria, Death in chi... OMIM:614946
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Osteomalacia, Hepatitis, Br... OMIM:619381
Developmental Delay With Or Without Dysmorphic Facies And Autism
Micrognathia, Hypotelorism, Deeply set eye, Short philtrum, Anteverted nares, Depressed nasal bri... OMIM:618454
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Cleft palate, Hypoplasia of teeth, Microtia, Widely spaced teeth, Microdontia, Mi... ORPHA:2728
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Decreased response to growth hormone stimulation test, Calcaneovalgus deformit... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Decreased response to growth hormone stimulation test, Calcaneovalgus deformit... ORPHA:363958
Congenital Erythropoietic Porphyria
Osteopenia, Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Los... ORPHA:79277
Liposarcoma
Weight loss ORPHA:69078
Lysinuric Protein Intolerance
Osteopenia, Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, ... ORPHA:470
Necrotizing Enterocolitis
Shock, Small for gestational age, Leukocytosis, Peritonitis, Bradycardia, Hypotension, Neutropeni... ORPHA:391673
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Ventricular arrhythmia OMIM:141000
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Renal insufficiency, Entropion, Dy... ORPHA:537
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ... ORPHA:289157
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Abnormal s... ORPHA:157941
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Coronary artery calcification, Kyphosis, Elevated u... OMIM:203500
Dubowitz Syndrome
Delayed eruption of teeth, Sacral dimple, Prominent nasal bridge, Micrognathia, Carious teeth, Cr... OMIM:223370
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Micrognathia, Abnormality of the dentition, Cryptorchidism, Sensorineural hearing impairment, Thi... ORPHA:85321
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... ORPHA:75566
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Broad-based gait, Short stature, Parkinsonism, Kyphoscolio... ORPHA:3077
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Failure to thrive, Decreased resp... ORPHA:293978
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Hypertelorism, Hypoplasia of the maxilla, Underdeveloped nasal... ORPHA:306542
Meier-Gorlin Syndrome 7
Anal stenosis, Choanal atresia, Cryptorchidism, Sensorineural hearing impairment, Cleft palate, D... OMIM:617063
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Hypertelorism, Underdeveloped nasal alae, Hypoplasia of t... ORPHA:1134
Hypoglossia-Hypodactylia
Micrognathia, Aglossia, Narrow mouth, Microglossia, Retrognathia OMIM:103300
Lissencephaly 6 With Microcephaly
Thin upper lip vermilion, Anteverted nares, Bulbous nose, Wide mouth, Widely spaced teeth, Macrotia OMIM:616212
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Microphthalmia With Linear Skin Defects Syndrome
Sacral dimple, Anophthalmia, Wide nose, Abnormal dental enamel morphology, Micrognathia, Abnormal... ORPHA:2556
Aymé-Gripp Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Hypertelorism, Narrow... ORPHA:1272
Ear-Patella-Short Stature Syndrome
Microtia, third degree, Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, High, ... ORPHA:2554
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Micrognathia, Hyperlordosis, Hypertelorism, Underdeveloped nasal alae, Hypotelorism, Wide mouth, ... OMIM:300986
Zttk Syndrome
Absent gallbladder, Depressed nasal bridge, Abnormality of the dentition, Hypoplasia of the maxil... OMIM:617140
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Renal insufficiency, Proteinuria, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Nep... OMIM:254900
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Branchiootic Syndrome 3
Branchial cyst, Commissural lip pit, Sensorineural hearing impairment OMIM:608389
Meckel Syndrome, Type 2
Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Bile duct prolifer... OMIM:603194
Fryns Syndrome
Tented upper lip vermilion, Ectopic pancreatic tissue, Short neck, Microretrognathia, Anteverted ... OMIM:229850
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Os odontoideum, Irregular dentition, Depressed nasal bridge, Macular coloboma, Abnormal auditory ... OMIM:619260
7Q31 Microdeletion Syndrome
Torticollis, Wide nasal ridge, Hypertelorism, Hypoplasia of the maxilla, Prominent nose, Hypoplas... ORPHA:251061
Immunodeficiency 10
Autoimmune hemolytic anemia, Lymphadenopathy, Thrombocytopenia, Hypohidrosis OMIM:612783
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Restrictive Dermopathy 1
Natal tooth, Depressed nasal bridge, Choanal atresia, Kyphoscoliosis, Micrognathia, Hypertelorism... OMIM:275210
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Multiple Myeloma
Osteopenia, Increased circulating IgA level, Splenomegaly, Nephropathy, Decreased circulating ant... ORPHA:29073
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Posteriorly rotated ears, Micrognathia, Congenital sensorineural hearing impairment, Coloboma, Sh... OMIM:617306
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Short neck, Deep philtrum, Hypoplasia of the iris, Microdontia, Hypertelorism, ... OMIM:619194
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Short stature, Intraventricular... OMIM:616507
Pelvis-Shoulder Dysplasia
Back pain, Lumbar hyperlordosis, Optic disc coloboma, Microphthalmia, Spina bifida occulta, Iris ... OMIM:169550
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormality of the dentition, Micrognathia, Proptosis, Narrow mouth, Short nose, Convex nasal ridge ORPHA:90154
Spastic Paraplegia 50, Autosomal Recessive
Mandibular prognathia, Wide nasal ridge, Bulbous nose, Wide mouth, High palate, Short philtrum OMIM:612936
Meckel Syndrome, Type 5
Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Bile duct proliferation, Mic... OMIM:611561
Variegate Porphyria
Paralysis OMIM:176200
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Sha... ORPHA:740
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Ureteral duplication, Renal insufficiency, Hepatomegaly, Tapered toe, Death in infancy,... OMIM:608836
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Generalized joint laxity, Increased circulating ... OMIM:619472
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Microretrognathia, Hypertelorism, High palate, Narrow mouth OMIM:616866
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Wide nose, Anophthalmia, Anteverted nares, Wide nasal bridge, Protruding ear, Thick vermilion bor... ORPHA:2526
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Ketonuria, Ataxia, Cardiac arrest, Spastic hemiparesis, Leukocy... ORPHA:20
Huntington Disease
Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, We... ORPHA:399
Giant Cell Arteritis
Hyperhidrosis, Abdominal aortic aneurysm, Ataxia, Sudden cardiac death, Mediastinal lymphadenopat... ORPHA:397
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Weight loss, Hematochezia, Anemia ORPHA:2070
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Narrow nasal ridge... ORPHA:363528
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Cryptorchidism, Subm... ORPHA:2588
Listeriosis
Back pain, Stiff neck, Liver abscess, Tremor, Abnormal cellular immune system morphology, Granulo... ORPHA:533
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Microphthalmia OMIM:613155
Arnold-Chiari Malformation Type I
Stiff neck, Myelopathy, Babinski sign, Vocal cord paralysis, Gait ataxia, Fused cervical vertebra... ORPHA:268882
Monosomy 13Q14
Prominent nasal bridge, Hypertelorism, Short neck, Micrognathia, Wide nasal bridge, Protruding ea... ORPHA:1587
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Micrognathia, Delayed epiphyseal ossification, Preaxial polydactyly, Knee flexion con... OMIM:210710
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Joint hemorrhage, Prolonged bleeding a... ORPHA:98879
Drug-Induced Lupus Erythematosus
Pericarditis, Petechiae, Thrombocytopenia, Hematuria, Prolonged QTc interval, Anemia ORPHA:231111
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, High, narrow pal... ORPHA:485405
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine ... ORPHA:276621
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Decreased res... OMIM:129900
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Hemiparesis, Arteriovenous mal... ORPHA:624
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Posteriorly rotated ears, Anteverted nares, Micrognathia, Hypertelorism, Hiatus hernia... OMIM:614756
Icf Syndrome
Recurrent respiratory infections, Epicanthus, Short stature, Abnormality of neutrophils, Decrease... ORPHA:2268
Juvenile Huntington Disease
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Bradykinesia, Progressive c... ORPHA:248111
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cardiomyopathy, Athetosis, Difficulty walking, Li... ORPHA:572798
Dent Disease 1
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Bowing of the legs, Delayed epiphysea... OMIM:300009
Trichohepatoenteric Syndrome 1
Villous atrophy, Wide nose, Anteverted nares, Hypertelorism, Narrow mouth, Large placenta, Depres... OMIM:222470
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Joint hemorrhage, Prolonged blee... ORPHA:328
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure ORPHA:83451
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Bowing of the long bones, Recurrent respiratory infections, Recurrent fractures, Cr... ORPHA:667
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Joint laxity, Arachnodactyly, Art... ORPHA:284984
Meier-Gorlin Syndrome 3
Microretrognathia, Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Hypoplasia of ... OMIM:613803
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Micrognathia, Hypertelorism, Rectal fistula, Rectal atresi... OMIM:115470
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Orthostatic hypotension, Macrocytic anemia, Decreased circ... ORPHA:199299
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Increased bone mineral density, Hyperparathyroidism, Cortical scl... OMIM:620366
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Tremor, Thro... OMIM:251100
48,Xxxy Syndrome
Hypoplasia of penis, Pulmonary embolism, Short neck, Tremor, Clinodactyly of the 5th finger, Cryp... ORPHA:96263
Cap Polyposis
Weight loss ORPHA:160148
Campomelic Dysplasia
Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Micrognathia, Depressed nasal ridge, ... OMIM:114290
Arboleda-Tham Syndrome
Mandibular prognathia, Anteverted ears, Bilateral cryptorchidism, Downturned corners of mouth, De... OMIM:616268
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Epicanthus, Failure to thrive, Recurrent respirator... OMIM:242840
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Clonus, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Death in infanc... ORPHA:534
Autosomal Recessive Faciodigitogenital Syndrome
Posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Micrognathia, Open bite, Hype... ORPHA:1974
Robin Sequence With Cleft Mandible And Limb Anomalies
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Prominent nose, Pierre-R... OMIM:268305
Xfe Progeroid Syndrome
Renal insufficiency, Severe short stature, Proteinuria, Cachexia, Poor coordination, Death in ado... OMIM:610965
Baraitser-Winter Cerebrofrontofacial Syndrome
Wide nose, Micrognathia, Short neck, Hypertelorism, Prominent nose, Optic disc coloboma, Long nos... ORPHA:2995
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Thoracic he... OMIM:268310
Beemer-Ertbruggen Syndrome
Cryptorchidism, Increased bone mineral density, Thrombocytopenia ORPHA:1237
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Anteriorly placed anu... OMIM:211380
Galloway-Mowat Syndrome 6
Anteverted nares, Decreased response to growth hormone stimulation test, Downturned corners of mo... OMIM:618347
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Pyruvate Dehydrogenase Deficiency
Epicanthus, Cerebral palsy, Ataxia, Tremor, Osteolytic defects of the middle phalanx of the 4th t... ORPHA:765
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m... OMIM:251880
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Small for gestational age, Clonus, Intraventricular hemorrhage, Spastic tetrapl... OMIM:619055
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Bullous Pemphigoid
Weight loss ORPHA:703
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... OMIM:300367
Ctcf-Related Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Sacral dimple, Anteverted nares, Abn... ORPHA:363611
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti... ORPHA:85450
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Hypertelorism, Thick lower lip vermilion, Wide nasal bridge, Wide mouth, Open mouth, Thick upper ... OMIM:611087
Pneumocystosis
Multiple pulmonary cysts, Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Int... ORPHA:723
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Wide mouth, Overfolded helix, Supernumerary nipple, Hypertelorism OMIM:616083
Rubinstein-Taybi Syndrome 1
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Bilateral cryptorc... OMIM:180849
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Highly arched eyebrow, Thrombocytopenia, Inability to walk, Scoliosis, Limb dystonia, Spasticity,... ORPHA:457351
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Coloboma, Death in childhood OMIM:613153
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis ORPHA:54028
Charcot-Marie-Tooth Disease Type 4B2
Tongue atrophy, Kyphoscoliosis, Tremor, Inability to walk, Vocal cord paralysis, Poor fine motor ... ORPHA:99956
Ectodermal Dysplasia-Blindness Syndrome
Narrow nasal bridge, Abnormality of the dentition, Protruding ear, Microphthalmia, Hearing impair... ORPHA:1806
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Short ear, Wide nose, Anteverted nares, Narrow mouth, Bulbous nose, Thick lower lip vermilion, Me... ORPHA:314647
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Proteinuria, Abnormality of body weight, Pneumonia, Increased circulating IgA l... ORPHA:2298
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Short neck, Abnormal bleeding, Juvenile myelomonocytic leukemia... OMIM:163950
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Microphtha... ORPHA:231736
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Small for gestational age, Normochromic anemia, Bradycardia, Cholel... OMIM:618775
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Cryptogenic Organizing Pneumonia
Pneumothorax, Leukocytosis, Neutrophilia, Weight loss ORPHA:1302
Igg4-Related Submandibular Gland Disease
Xerostomia, Enlarged lacrimal glands, Abnormal pancreas morphology, Enlargement of parotid gland,... ORPHA:449432
Tick-Borne Encephalitis
Back pain, Speech apraxia, Stiff neck, Incoordination, Paralysis, Tremor, Leukocytosis, Leukopeni... ORPHA:297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Duplication Of The Pituitary Gland
Encephalocele, Thoracic scoliosis, Abnormal odontoid process morphology, Short neck, Hyperteloris... ORPHA:314621
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Meier-Gorlin Syndrome 1
Death in infancy, Incomplete partition of the cochlea type II, Micrognathia, Hypoplasia of the ma... OMIM:224690
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Hypoplastic sacrum, Absence of Stensen duct, Selective tooth agenesis, Decreased r... OMIM:604292
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Micrognathia, Cupped ear, Wide nasal bridge, Anteriorly placed anus, Microtia, Microphthalmia, An... ORPHA:1352
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Growth delay, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocy... OMIM:613987
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... ORPHA:91387
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, High palate, Hypotelorism OMIM:619053
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Neoplasm of the ... ORPHA:171
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Hematuria, Abnormal umbilical stump bleeding, Gingiva... ORPHA:79
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti... OMIM:601495
Primary Fanconi Renotubular Syndrome
Osteomalacia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Depressed nasal bridge, Short neck, Abnormality of the dentition, Low posterior hairline, Wide mo... OMIM:615802
Neuroleptic Malignant Syndrome
Tachycardia, Extrapyramidal muscular rigidity, Proteinuria, Urinary incontinence, Oculogyric cris... ORPHA:94093
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Lumbar hyperlordosis, Optic nerve hypoplasia, Macroglossia, Coloboma, Mi... ORPHA:370959
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal bleeding, Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Aceruloplasminemia
Refractory anemia, Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Akinesia, ... ORPHA:48818
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage, Paralysis OMIM:603285
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Joint... OMIM:613795
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Short neck, Hypotelorism, Downturned corners of mouth, Deeply set eye, Hypoplasia o... OMIM:264090
Hypermanganesemia With Dystonia 2
Tremor, Scissor gait, Hyperhidrosis, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Gait ... OMIM:617013
Hypermanganesemia With Dystonia 1
Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordinatio... OMIM:613280
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Micrognathi... ORPHA:177907
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent upper respiratory tract infections, Recurrent pneumonia, B... OMIM:614868
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Ovoid vertebral bodies, Grayish enamel, Carious teeth, Hyperlordosis, Hypo... OMIM:253010
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Anhidrosis, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Thrombocyto... ORPHA:169090
Oculopharyngodistal Myopathy
Paraplegia, Weight loss, Difficulty walking, Loss of ambulation, Vocal cord paresis, Recurrent as... ORPHA:98897
Turnpenny-Fry Syndrome
Mandibular prognathia, Thin upper lip vermilion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, D... OMIM:618371
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Prominent nasal bridge, Micrognathia, Wide mouth, Death in childhood, Retrognathia OMIM:604273
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Ataxia, Leukocytosis, Weight loss, Hypertension, Hypotension, Extrapyram... ORPHA:134
8P23.1 Microdeletion Syndrome
Proximal placement of thumb, Short neck, Broad hallux phalanx, Hypospadias, Short stature, Tapere... ORPHA:251071
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... OMIM:223800
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis OMIM:300857
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Thin upper lip vermilion, Posteriorly rotated ears, Intestinal malrotation, He... OMIM:601776
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Pemphigus Vulgaris
Weight loss ORPHA:704
Trichothiodystrophy 1, Photosensitive
Death in infancy, Intestinal obstruction, Malabsorption, Macrotia, Protruding ear, Microphthalmia... OMIM:601675
Wyburn-Mason Syndrome
Cerebral palsy, Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Cerebral he... ORPHA:53719
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Pilonidal sinus, Anteverted nares, Depressed nasal bridge, Short neck, Hypert... OMIM:252940
Kinsship Syndrome
Mandibular prognathia, Thin upper lip vermilion, Sacral dimple, Death in infancy, Micrognathia, S... OMIM:619297
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Dental crowding, Decreased response to growth hormone stimulation test, Micrognathia, High, narro... ORPHA:96182
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Postnatal growth re... ORPHA:79303
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Retinal coloboma, Cryptorchidism OMIM:601794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Retinal coloboma, Cryptorchidism ORPHA:363741
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Torticollis, Anteverted nares, Depressed nasal bridge, Short neck, Micrognathia, Cryptorchidism, ... OMIM:620224
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Ataxia, Portal hypertension, Hig... ORPHA:1454
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Micrognathia, Hypertelorism, Absent earlobe, Wide nasal bridge, Cleft palate, Proptosis, Scoliosi... OMIM:130070
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pinna morphology, Kyphoscoliosis, Short neck, Hemivertebrae, Punctate vertebral calcific... OMIM:302960
Joubert Syndrome 22
Microphthalmia, Coloboma OMIM:615665
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Narrow nasal bridge, Dental crowding, Kyphoscoliosis, Prominent nose, High, narrow palate, Kyphos... OMIM:300967
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Short neck, Kyphosis, Pyloric stenosis, Abnormal rib morphology, Abnormal ... ORPHA:818
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Narrow mouth, Deat... OMIM:619147
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Joint laxity, Juvenile myelomonocytic leukemia, Epicanthus, Short stature, Highly arched eyebrow,... OMIM:613563
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... OMIM:614074
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine ... ORPHA:29072
Glutaryl-Coa Dehydrogenase Deficiency
Joint dislocation, Dystonia, Ataxia, Poor motor coordination, Tremor, Glutaric aciduria, Chorea, ... ORPHA:25
Thymic Neuroendocrine Tumor
Osteopenia, Calcium nephrolithiasis, Pancreatic islet cell adenoma, Chronic noninfectious lymphad... ORPHA:97289
Pitt-Hopkins Syndrome
Aganglionic megacolon, Anteverted nares, Supernumerary nipple, Short neck, Hiatus hernia, Cryptor... ORPHA:2896
Shprintzen Omphalocele Syndrome
Lumbar hyperlordosis, Kyphosis, Hypoplasia of the pharynx, Scoliosis, Decreased body weight, Anal... OMIM:182210
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Short stature, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepa... OMIM:307200
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Sensorineural hearing impairment, Bulbous nose, Wide nasal bridge, Deeply set eye... ORPHA:250989
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Tay-Sachs Disease
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Aspiration pneumonia, Cherry red... ORPHA:845
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Pr... ORPHA:274
Warburg Micro Syndrome 2
Prominent nasal bridge, Asymmetry of the ears, Cryptorchidism, Deeply set eye, Microphthalmia, Sh... OMIM:614225
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Sacral dimple, Short stature, Unsteady gait, Fetal intraventricular hemorrhage, Clinodactyly of t... OMIM:618480
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Redundant neck skin, Micrognathia, Hypoplasia ... ORPHA:96334
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Methylmalonic aciduria, Neutropenia, Fai... OMIM:251110
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Intrauterine growth retardation, Re... OMIM:620133
Syndromic Diarrhea
Abnormality of the liver, Hypoplasia of the thymus, Hepatic fibrosis, Hepatoblastoma, Hypothyroid... ORPHA:84064
Hamamy Syndrome
Hypoparathyroidism, Thin upper lip vermilion, Anteverted nares, Micrognathia, Hypertelorism, Cryp... OMIM:611174
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide mouth, Wide nasal base, Wide nasal bridge OMIM:616521
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hypertelorism, Broad nasal tip, Bifid nasal tip, Wide mouth, Median pseudocleft lip, Low-set ears... OMIM:619758
Baller-Gerold Syndrome
Micrognathia, Anteriorly placed anus, High palate, Choanal stenosis, Conductive hearing impairmen... OMIM:218600
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Incoordination, Ataxia, Jaundice, Slurred ... ORPHA:90062
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Holoprosencephaly, Cleft palate ORPHA:250999
Neu-Laxova Syndrome 1
Swollen lip, Micrognathia, Short neck, Depressed nasal ridge, Neonatal death, Spina bifida, Cleft... OMIM:256520
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Death in infancy, Remnants of the hyaloid vascular system, Optic nerve hypoplasia,... OMIM:614643
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Chorea, Lymphadenopat... ORPHA:536
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Clubbing, Bronchiectasis, Weight loss,... ORPHA:79127
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Sensorineural hearing impairment, Coloboma, Scoliosis, Microphthalmia OMIM:615249
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur... OMIM:277400
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Anteverted nares, Depressed nasal bridge, Protruding tongue, Gingival overgrowth, Wide mouth, Dee... OMIM:618797
Japanese Encephalitis
Stiff neck, Genu recurvatum, Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Respiratory paral... ORPHA:79139
Osteosarcoma
Weight loss ORPHA:668
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Hyperhidrosis, Anemia, Leukopenia, Prolonged prothrombin time,... ORPHA:2330
C Syndrome
Posteriorly rotated ears, Anteverted nares, Accessory oral frenulum, Micrognathia, Cryptorchidism... OMIM:211750
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Mandibular prognathia, Prominent nasal bridge, Prominent nose, Wide mouth, Thick vermilion border... OMIM:619576
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Failure to thrive, Pancreatic fibrosis, Small for gestational... OMIM:557000
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Recurrent respiratory infections, Perianal abscess, Weight loss, Arthritis, Iron deficiency anemi... OMIM:301074
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Sacral dimple, Wide nasal rid... ORPHA:459070
Familial Afibrinogenemia
Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival bleeding ORPHA:98880
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Mandibular prognathia, Depressed nasal bridge, Prominent nasal bridge, Abnormality of the dentiti... OMIM:618505
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Death in infancy, Abnormality of the dentition, Malabsorption, Underde... ORPHA:2315
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Opitz-Kaveggia Syndrome
Dental crowding, Micrognathia, Short neck, Prominent nose, Anteriorly placed anus, Simple ear, Lu... OMIM:305450
Galloway-Mowat Syndrome 1
Narrow nasal ridge, Micrognathia, Hypertelorism, Hiatus hernia, Prominent nose, Hypoplasia of the... OMIM:251300
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Thin upper lip vermilion, Hypertelorism, Anosmia, Hypoplasia of the zygomatic bone, Abnormal nost... ORPHA:1295
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia OMIM:246400
Focal Dermal Hypoplasia
Narrow nasal bridge, Abnormal dental morphology, Abnormal dental enamel morphology, Spina bifida,... ORPHA:2092
Coenzyme Q10 Deficiency, Primary, 1
Right hemiplegia, Pancytopenia, Proteinuria, Recurrent myoglobinuria, Ataxia, Tremor, Nephrotic s... OMIM:607426
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Anophthalmia, Intestinal malrotation, Hiatus hernia, Esophageal ... ORPHA:2538
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Hemiparesis, Hypertension, Mi... OMIM:235400
Duane-Radial Ray Syndrome
Anal stenosis, Abnormal nasopharynx morphology, Optic disc hypoplasia, Aganglionic megacolon, Cho... OMIM:607323
Pitt-Hopkins Syndrome
Sacral dimple, Fetal nuchal edema, Supernumerary nipple, Short neck, Cryptorchidism, Deep philtru... OMIM:610954
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Thoracic scoliosis, Cervical ... ORPHA:508498
Whim Syndrome
Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectasis, Recurrent upper respiratory t... ORPHA:51636
Fibronectin Glomerulopathy
Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic syndrome, Microsco... ORPHA:84090
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Micrognathia, Short neck, Prominent nose, Hypotelorism, Protruding ear, De... OMIM:612474
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Adrenal hyperplasia, High, narrow palate, Anteriorly placed anus, Abnormal ovarian morphology, Ch... ORPHA:95699
Mandibuloacral Dysplasia Progeroid Syndrome
Depressed nasal bridge, Narrow nasal ridge, Micrognathia, Underdeveloped nasal alae, Intra-oral h... OMIM:619127
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
3Mc Syndrome 1
Conjunctival telangiectasia, Synophrys, Coronal craniosynostosis, Clinodactyly of the 5th finger,... OMIM:257920
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Metaphyseal chondrodysplasia, Enlargement of the wrists, Spastic paraplegia, Babinski sig... ORPHA:83629
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Congestive heart failure, Leukocytosis, Weight loss, Pleural empyema... ORPHA:67
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Pettigrew Syndrome
Mandibular prognathia, Prominent nose, Sensorineural hearing impairment, Wide mouth, Deeply set e... OMIM:304340
Congenital Myopathy 15
Osteopenia, Waddling gait, Vocal cord paralysis, Camptodactyly, Joint hypermobility OMIM:620161
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Short femur, Talipes equinovarus OMIM:620306
Gabriele-De Vries Syndrome
Hallux valgus, Waddling gait, Telecanthus, Sandal gap, Aortopulmonary collateral arteries, Sparse... OMIM:617557
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Death in infancy, Cleft upper lip, Spinal rigidity, Cleft palate, Buphthalmos, Mac... OMIM:613150
Acromelic Frontonasal Dysplasia
Encephalocele, Median cleft lip, Anterior pituitary hypoplasia, Hypertelorism, Broad nasal tip, C... ORPHA:1827
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Wide nose, Short lingual frenulum, Supernumerary nipple, Vertical orbital dystopia, Hypertelorism... ORPHA:1521
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Anuria, Pneumonia, Respiratory tract infection, Myocarditis, Leu... ORPHA:544482
Thymic Carcinoma
Weight loss ORPHA:99868
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Hiatus hern... ORPHA:50
Lissencephaly 8
Microphthalmia, Occipital encephalocele OMIM:617255
Oculoauricular Syndrome
Short mandibular rami, Absent earlobe, Phthisis bulbi, Macular hypoplasia, Retinal coloboma, Micr... OMIM:612109
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Short neck, Tibial bowing, Opisthotonus, Shallow orbits, Hepatob... OMIM:269150
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology, Anal atresia, Persisten... OMIM:615709
Marden-Walker Syndrome
Posteriorly rotated ears, Micrognathia, Kyphosis, Pyloric stenosis, Submucous cleft hard palate, ... ORPHA:2461
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Short stature, Cachexia, Kyphosis, Genu varum, Scoliosis, Ptosis ORPHA:1969
Hereditary Acrokeratotic Poikiloderma
Premature loss of primary teeth, Abnormality of the dentition, Open bite, Trismus, Xerostomia, Gi... ORPHA:2907
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Behçet Disease
Myocardial infarction, Pulmonary embolism, Abnormal pyramidal sign, Ataxia, Vasculitis, Lymphaden... ORPHA:117
Acute Lung Injury
Shock, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Abnormal pulmonary interstitia... ORPHA:178320
Generalized Pustular Psoriasis
Renal insufficiency, Overweight, Congestive heart failure, Leukocytosis, Obesity, Arthritis, Lymp... ORPHA:247353
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Lethal Congenital Contracture Syndrome 5
Death in infancy, Small for gestational age, Flexion contracture, Subdural hemorrhage, Retinal he... OMIM:615368
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Kyp... OMIM:617988
Igg4-Related Kidney Disease
Lymphadenitis, Abnormal lung morphology, Sterile pyuria, Tubulointerstitial nephritis, Increased ... ORPHA:449395
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Hypertelorism, Broad nasal tip,... OMIM:614207
Blue Rubber Bleb Nevus
Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Pathologic fracture, Throm... OMIM:112200
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Cryptorchidism, Wide mouth, Short philtrum, Low-set ears, Retrognathia ORPHA:1194
Martin-Probst Syndrome
Micrognathia, Hypertelorism, Cryptorchidism, Sensorineural hearing impairment, Thick lower lip ve... OMIM:300519
Yellow Fever
Anuria, Internal hemorrhage, Abnormal bleeding, Neutrophilia, Excessive bleeding after a venipunc... ORPHA:99829
Short Stature And Microcephaly With Genital Anomalies
Prominent nose, Convex nasal ridge, Scoliosis, Narrow mouth OMIM:618702
Joubert Syndrome 2
Encephalocele, Depressed nasal bridge, Hypertelorism, Optic disc coloboma, High palate, Chorioret... OMIM:608091
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Cleft palate OMIM:257910
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Stage 5 chronic kidney disease,... OMIM:612925
Neurofibroma
Kyphoscoliosis, Spinal canal stenosis, Enlargement of parotid gland, Multiple intestinal neurofib... ORPHA:252183
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
8Q24.3 Microdeletion Syndrome
Microretrognathia, Thin upper lip vermilion, Thoracic scoliosis, Ectopic posterior pituitary, Pos... ORPHA:508488
Kilquist Syndrome
Mandibular prognathia, Intestinal malrotation, Choanal atresia, Midgut malrotation, Xerostomia, H... OMIM:619080
Cantú Syndrome
Anteverted nares, Ovoid vertebral bodies, Short neck, Cuboid-shaped vertebral bodies, Wide nasal ... ORPHA:1517
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Curry-Jones Syndrome
Intestinal malrotation, Hypertelorism, Optic disc coloboma, Microphthalmia, Iris coloboma ORPHA:1553
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Intralobular septal thickening, Clubbing, Elevated bronchoalv... OMIM:619611
Cockayne Syndrome B
Tremor, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac wing,... OMIM:133540
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Enlarged lacrimal glands, Enlargement of parotid gland, Proptosis, Nodular goiter, Ab... ORPHA:79078
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Hypertension, Microa... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Hypertension, Microa... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Hypertension, Microa... OMIM:612926
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Ankyloglossia, Death in infancy OMIM:602361
Parkes Weber Syndrome
Abnormal bleeding, Abnormal femoral metaphysis morphology, Back pain, Peripheral arteriovenous fi... ORPHA:90307
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Cleft upper lip, Micrognathia, Cryptorchidism, M... OMIM:236670
Postaxial Acrofacial Dysostosis
Midgut malrotation, Pyloric stenosis, Cleft palate, Radioulnar synostosis, Supernumerary vertebrae OMIM:263750
O'Sullivan-Mcleod Syndrome
Tremor, Increased circulating antibody level, Eosinophilia, Fasciculations ORPHA:99965
Peripheral Primitive Neuroectodermal Tumor
Abnormal bleeding, Neoplasm of the pancreas, Back pain, Abnormal thoracic spine morphology, Torti... ORPHA:370348
Thrombocytopenia 1
Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased mean plate... OMIM:313900
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Oral mucosal blisters, Esophageal stricture, Narrow mouth, En... OMIM:226600
Severe Oculo-Renal-Cerebellar Syndrome
Mandibular prognathia, Malar prominence, Wide mouth, Large earlobe, Hypoplasia of the zygomatic b... ORPHA:2715
Meckel Syndrome, Type 4
Encephalocele, Meningocele, Anencephaly, Cleft palate, Bile duct proliferation, Microphthalmia OMIM:611134
Fanconi Anemia, Complementation Group R
Microphthalmia, Anal atresia, Scoliosis, Agenesis of permanent teeth OMIM:617244
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Abnormal dental morphology, Abnormal nasal morphology, Deep philtrum, Aplasia/Hypoplasia of the e... ORPHA:2878
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Weight loss, Gra... OMIM:608710
Meckel Syndrome, Type 1
Occipital encephalocele, Micrognathia, Short neck, Hypotelorism, Lobulated tongue, Iris coloboma,... OMIM:249000
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Ataxi... ORPHA:713
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Cocaine Intoxication
Prolonged QRS complex, Myocardial infarction, Tremor, Hyperhidrosis, Tubulointerstitial nephritis... ORPHA:90068
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracrani... ORPHA:404
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Portal hypertension, Micronodul... ORPHA:309854
Blepharophimosis, Ptosis, And Epicanthus Inversus
Depressed nasal bridge, Increased circulating gonadotropin level, Cupped ear, Wide nasal bridge, ... OMIM:110100
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Weight loss, Opisthotonus, Increased susceptibility to f... ORPHA:216866
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Genu valgum OMIM:617798
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Hypertension, Dexamethasone-suppressible... ORPHA:403
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Paralysis, Osteoporosis, Hypertonia, Myoclonus, Scoliosis, Tetraparesis, Tracheomalacia, ... OMIM:203700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Hypertension, Microa... OMIM:612924
Den Hoed-De Boer-Voisin Syndrome
Tremor, Ataxia, Overweight, 2-3 toe syndactyly, Obesity, Upper limb spasticity, Myoclonus, Scolio... OMIM:619229
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Er... ORPHA:447
Genitourinary And/Or Brain Malformation Syndrome
Jejunal atresia, Ileal atresia, Kyphoscoliosis, Joint stiffness, Holoprosencephaly OMIM:618820
Nephroblastoma
Weight loss ORPHA:654
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Brachydactyly, Cachexia, Short palm, Hemiplegia, Ptosis ORPHA:3217
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Thick lower lip verm... OMIM:619103
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Short neck, Tremor, Synophrys, Prominent protruding coccyx, Ataxia, Talipes cavus equ... OMIM:300966
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Liver Disease, Severe Congenital
Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Aminoaciduria, Lymphocytosis... OMIM:619991
Aica-Ribosuria Due To Atic Deficiency
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Wide mouth, Low-set ears OMIM:608688
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Superficial Siderosis
Abnormal bleeding, Back pain, Ataxia, Subarachnoid hemorrhage, Functional abnormality of the blad... ORPHA:247245
Restrictive Dermopathy
Natal tooth, Thoracic kyphoscoliosis, Aplasia/Hypoplasia involving the nose, Choanal atresia, Mic... ORPHA:1662
Aica-Ribosiduria
Wide mouth, Thin upper lip vermilion, Low-set ears ORPHA:250977
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Failure to thrive, Membranoproliferative glomerulonephritis, Microcytic anemia, Mod... OMIM:619525
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Otopalatodigital Syndrome, Type Ii
Posteriorly rotated ears, Depressed nasal bridge, Kyphoscoliosis, Short neck, Micrognathia, Hyper... OMIM:304120
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Medulloblastoma
Back pain, Ataxia, Delayed cranial suture closure, Cerebellar hemorrhage, Dysmetria, Neoplasm of ... ORPHA:616
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Stenosis of the medullary cavity of the long bones, Short stature, Del... ORPHA:93325
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Bone marrow hypoc... OMIM:615190
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Short neck, Prominent nose, High, narrow palate, Deep philtrum, Downturned... OMIM:619950
Andersen-Tawil Syndrome
Joint laxity, Periodic hyperkalemic paralysis, Periodic paralysis, High palate, Scoliosis, Period... ORPHA:37553
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Delayed eruption of teeth, Posteriorly rotated ears, Broad nasal tip, Ging... OMIM:135500
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Short neck, Fused ... OMIM:609053
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, High, narrow palate, Cleft palate, Thickened helices, Mi... ORPHA:2714
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... ORPHA:43
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in infancy, Thoracic scoliosis, Cerebral hemorrhage, Knee contracture, Subdural hemorrhage,... OMIM:620278
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Scrub Typhus
Abnormal bleeding, Renal insufficiency, Tremor, Myocarditis, Splenomegaly, Hyperhidrosis, Lymphad... ORPHA:83317
Primrose Syndrome
Hypoplasia of the maxilla, Bilateral cryptorchidism, Downturned corners of mouth, Irregular verte... OMIM:259050
Immunodeficiency 55
Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro... OMIM:617827
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Downturned corners ... ORPHA:3455
Cushing Disease
Increased urinary cortisol level, Lymphopenia, Adrenal hyperplasia, Myocardial infarction, Pituit... ORPHA:96253
Adenylosuccinase Deficiency
Thin upper lip vermilion, Anteverted nares, Wide mouth, Low-set ears, Long philtrum, Short nose, ... OMIM:103050
Cockayne Syndrome A
Tremor, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac wing,... OMIM:216400
Incontinentia Pigmenti
Delayed eruption of teeth, Hypoplasia of the fovea, Kyphoscoliosis, Conical tooth, Supernumerary ... OMIM:308300
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Wide nose, Prominent nasal bridge, Convex nasal ridge, Prominent nose, Dental malocclusion, High ... OMIM:601552
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Low back pain, Renal insufficiency, Dysuria, Hashimoto thyroiditis, Large vess... ORPHA:49041
Cardiofaciocutaneous Syndrome 3
Wide mouth, Webbed neck, Scoliosis, Short neck OMIM:615279
Angelman Syndrome
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, De... OMIM:105830
Isotretinoin-Like Syndrome
Postnatal growth retardation, Patent ductus arteriosus, Abnormal aortic arch morphology, Conotrun... ORPHA:2306
Ehlers-Danlos Syndrome, Vascular Type
Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Finger joint h... OMIM:130050
Oculocerebrofacial Syndrome, Kaufman Type
Micrognathia, High, narrow palate, Wide mouth, Abnormal upper lip morphology, Abnormal lip morpho... ORPHA:2707
Monosomy 18Q
Mandibular prognathia, Depressed nasal bridge, Kyphoscoliosis, Prominent nose, Bilateral cryptorc... ORPHA:1600
Lymphedema-Distichiasis Syndrome
Cleft upper lip, Micrognathia, Kyphosis, Cleft palate, Webbed neck, Microphthalmia, Cystic hygroma OMIM:153400
Pmm2-Cdg
Osteopenia, Multiple joint contractures, Intracranial hemorrhage, Hepatic fibrosis, Aspiration pn... ORPHA:79318
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Desquamative interstitial pneumonitis, Clubbing, Intraalveolar phospholipid acc... OMIM:265120
Smith-Lemli-Opitz Syndrome
Sacral dimple, Aganglionic megacolon, Intestinal malrotation, Pyloric stenosis, Hydrocephalus, Cl... OMIM:270400
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Peritonitis, Hemogl... ORPHA:90038
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Anteverted nares, Spina bifida, Cleft upper lip, H... OMIM:304050
Choreoacanthocytosis
Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Hepatomegaly, Self-mut... ORPHA:2388
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensit... ORPHA:171876
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida, Supernumerary ribs, Supernumerary vertebrae OMIM:193500
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Spasticity, Vocal cord paralysis, Myoclonus, Scoliosis ORPHA:500144
Orofaciodigital Syndrome Type 1
Tremor, Reduced bone mineral density, Clinodactyly of the 5th finger, Finger syndactyly, Multicys... ORPHA:2750
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Glossopharyngeal Neuralgia
Vocal cord paralysis, Abnormality of the cervical spine, Weight loss ORPHA:221098
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... ORPHA:100075
Van Esch-O'Driscoll Syndrome
Sacral dimple, Depressed nasal bridge, Esophageal atresia, Retrognathia, Tracheoesophageal fistul... OMIM:301030
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... OMIM:177850
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Gait ataxia, Abnormality of the liver, Hypertonia, Hypothyroidism, Hyperthyroidism, Ataxi... ORPHA:254892
Tenorio Syndrome
Mandibular prognathia, Wide nose, Anteverted nares, Wide mouth, Macroglossia, Recurrent aphthous ... OMIM:616260
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Short stature, Impaired T cell function, Ataxia, Tremor, Splenomegaly, Failure to t... OMIM:201100
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Metaph... ORPHA:221008
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Micromelia, Sh... ORPHA:3003
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Mandibular prognathia, Wide mouth ORPHA:411515
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Hyperlordosis, Tr... OMIM:128100
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated ... OMIM:620300
Bartsocas-Papas Syndrome 1
Anal atresia, Anal stenosis, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Short neck... OMIM:263650
Kabuki Syndrome 1
Joint dislocation, Congenital hip dislocation, Prominent fingertip pads, Micropenis, Abnormal ver... OMIM:147920
Cerebral Visual Impairment
Cerebral palsy, Clumsiness, Intracranial hemorrhage, Ischemic stroke, Oculomotor apraxia ORPHA:447788
Alg9-Cdg
Villous atrophy, Micrognathia, Short neck, Large fleshy ears, Shallow orbits, Bifid uvula, Micror... ORPHA:79328
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyram... ORPHA:397946
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Anal atresia, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Kyphos... ORPHA:85199
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Abnormal pituitary gland morphology, Euthyroid goiter, Nodular goiter, Siala... ORPHA:64744
Coffin-Siris Syndrome 4
Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Wide nose, Anteverted... OMIM:614609
Cystinosis, Nephropathic
Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hy... OMIM:219800
Lynch Syndrome
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Death in infanc... ORPHA:144
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Dystonia, Clonus, Tremor, Patent ductus arteriosus, Jaundice, Growth delay, 3-M... OMIM:617248
Addison Disease
Normocytic anemia, Hypoparathyroidism, Orthostatic hypotension, Decreased circulating cortisol le... ORPHA:85138
Acute Adrenal Insufficiency
Normocytic anemia, Orthostatic hypotension, Renal insufficiency, Decreased circulating cortisol l... ORPHA:95409
Rat-Bite Fever
Back pain, Pericarditis, Parotitis, Myocarditis, Lymphadenitis, Oligoarthritis, Weight loss, Arth... ORPHA:31205
Oculogastrointestinal Muscular Dystrophy
Cachexia, Ptosis ORPHA:1876
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Decreased cervical spine mobility, Holoprosencephaly, Osteoporosis of vertebrae, Medi... ORPHA:95494
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Pancreatoblasto... ORPHA:99889
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Epicanthus, Sacral dimple, Tapered finger, Intraventricular hemorrhage, Hydrocele testis, Narrow ... OMIM:613603
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Death in infancy, Hemiparesis ORPHA:2481
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Overlapping toe, Proteinuria, Cerebral hemorrhage, Cryptorchidism, Patent ductus arteriosus, Unst... OMIM:616682
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Thick vermilion border, Wide... ORPHA:324540
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Spastic tetraparesis, Cleft palate, Hypertonia, Scoliosis, Camptodactyly, Contracture of the prox... OMIM:301044
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonit... ORPHA:131
Tangier Disease
Accelerated atherosclerosis, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Ca... ORPHA:31150
Trichothiodystrophy 5, Nonphotosensitive
Mandibular prognathia, Optic nerve hypoplasia, Wide mouth, Widely spaced primary teeth, Panhypopi... OMIM:300953
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:212550
White-Kernohan Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, U... OMIM:619426
Polyarteritis Nodosa
Weight loss ORPHA:767
Pancreatic Agenesis-Holoprosencephaly Syndrome
Small for gestational age, High palate, Holoprosencephaly, Semilobar holoprosencephaly ORPHA:556955
Lacrimoauriculodentodigital Syndrome 1
Lacrimal gland aplasia, Mixed hearing impairment, Absence of Stensen duct, Delayed eruption of pr... OMIM:149730
Ménétrier Disease
Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Weight loss ORPHA:2494
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Short stature, Cachexia, Arteriosclerosis, Spasticity ORPHA:220295
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Depressed nasal bridge, Hypertelorism, Cryptorchidism, Wide mouth, Long phil... ORPHA:457485
Hydrolethalus Syndrome 1
Median cleft lip, Abnormal pinna morphology, Micrognathia, Anencephaly, Cleft palate, Stillbirth,... OMIM:236680
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Epicanthus, Urinary incontinence, Tapered finger, Unilateral radial aplasia, Partial absence of t... ORPHA:476126
Niemann-Pick Disease Type C
Bone-marrow foam cells, Tremor, Chorea, Abnormal lung morphology, Abnormal pyramidal sign, Abnorm... ORPHA:646
Leukocyte Adhesion Deficiency
Conjunctivitis, Polycythemia, Abnormal bleeding, Short stature, Hemolytic-uremic syndrome, Perian... ORPHA:2968
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recurrent upper respirator... OMIM:263000
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Kyphosis, Narrow mouth, Sensorineural ... ORPHA:1606
Andersen Cardiodysrhythmic Periodic Paralysis
Joint laxity, Periodic paralysis, Cleft palate, High palate, Scoliosis, Periodic hypokalemic paresis OMIM:170390
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma, Hypoplastic iris stroma, Macular hyp... ORPHA:2334
Immune-Mediated Necrotizing Myopathy
Raynaud phenomenon, Congestive heart failure, Myocarditis, Abnormal pulmonary interstitial morpho... ORPHA:206569
Congenital Myopathy 21 With Early Respiratory Failure
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Lipoid pneumonia, Spinal rigidity OMIM:620326
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Mi... OMIM:619503
Warsaw Breakage Syndrome
Hypoplasia of the cochlea, Optic disc coloboma, Cupped ear, Wide mouth, High palate, Hearing impa... OMIM:613398
Degcags Syndrome
Micrognathia, Prominent nose, Hypotelorism, High palate, Anteverted nares, Hypertelorism, Hiatus ... OMIM:619488
Acro-Renal-Ocular Syndrome
Vertebral fusion, Optic disc hypoplasia, Aganglionic megacolon, Hypertelorism, Sensorineural hear... ORPHA:959
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171420
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Polydactyly ORPHA:17
Nicolaides-Baraitser Syndrome
Short lingual frenulum, High, narrow palate, Widely spaced teeth, Anteverted nares, Cryptorchidis... OMIM:601358
Yunis-Varon Syndrome
Redundant neck skin, Micrognathia, High, narrow palate, Broad secondary alveolar ridge, Glossopto... ORPHA:3472
Scleromyxedema
Abnormality of the neck, Narrow mouth ORPHA:167635
Rheumatoid Arthritis
Swan neck-like deformities of the fingers, Joint stiffness, Vasculitis, Weight loss, Joint swelli... OMIM:180300
Spastic Paraplegia 51, Autosomal Recessive
Long nose, Bulbous nose, Wide nasal bridge, Wide mouth, Prominent antihelix, Short philtrum OMIM:613744
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Short stature, Intraventricular hemorrhage, Aspiration pneumonia, Failure to thrive OMIM:616430
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Tented upper lip vermilion, Micrognathia, Short neck, Widely-spaced maxillary central incisors, H... OMIM:309580
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis,... ORPHA:99750
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Cryptorchidism, Sensorineural hearing impairment, Hypotelorism, Wide mout... OMIM:300661
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Inability to walk, Vocal cord paralysis, Knee flexion contracture, Tracheomalacia OMIM:615490
Malt Lymphoma
Recurrent respiratory infections, Abnormal nasolacrimal system morphology, Mediastinal lymphadeno... ORPHA:52417
Williams Syndrome
Osteopenia, Hypoplasia of penis, Myocardial infarction, Abnormal cerebral vascular morphology, Tr... ORPHA:904
Ulbright-Hodes Syndrome
Abnormal pinna morphology, Depressed nasal bridge, Micrognathia, Short neck, Cryptorchidism, Ovoi... ORPHA:3404
Alexander Disease
Osteopenia, Ataxia, Clonus, Sudden cardiac death, Short neck, Hyperlordosis, Kyphosis, Tremor, Ch... ORPHA:58
Holocarboxylase Synthetase Deficiency
Hypertonia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisovaleric... OMIM:253270
Benign Schwannoma
Intestinal polyposis, Nasal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morp... ORPHA:252164
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Tremor, Babinski sign, 2-3 toe syndactyly, Spasticity, Renal tubular dys... OMIM:616539
X-Linked Intellectual Disability, Wilson Type
Mandibular prognathia, Wide mouth, Thick vermilion border, Hydrocele testis ORPHA:85290
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Death in early adulthood, Cachexia, Weight loss, Slender build, Ptosis OMIM:603041
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Muir-Torre Syndrome
Adenoma sebaceum, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm ORPHA:587
Acute Transverse Myelitis
Back pain, Orthostatic hypotension, Urinary incontinence, Subarachnoid hemorrhage, Abscess, Parap... ORPHA:139417
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets, Weight loss, Growth delay, Iron deficiency anemia, Keratocon... ORPHA:309031
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Anteverted nares, Hypertelorism, Esophageal varix, Wide m... OMIM:216360
Klatskin Tumor
Weight loss ORPHA:99978
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,... ORPHA:99027
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... OMIM:120200
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Aplasi... ORPHA:221016
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... ORPHA:288
Yao Syndrome
Weight loss OMIM:617321
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertensio... OMIM:301050
Mowat-Wilson Syndrome
Delayed eruption of teeth, Prominent nasal tip, Aganglionic megacolon, Uplifted earlobe, Hypertel... OMIM:235730
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Schinzel-Giedion Syndrome
Micrognathia, Short neck, Abnormality of the gingiva, Anteriorly placed anus, Short philtrum, Hig... ORPHA:798
Neuroocular Syndrome
Hypoplasia of the fovea, Sacral dimple, Remnants of the hyaloid vascular system, Unilateral deafn... OMIM:619539
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Holoprosencephaly, Median cleft palate OMIM:612651
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Hepatomegaly, Waddling gait, Dystonia, Short stature, Ataxia, Hyperlordosis, Trem... OMIM:615356
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Osteolysis, Cleft palate, Colon cancer, Holoprosencephaly, Stomach cancer, ... ORPHA:1052
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... OMIM:615873
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Narrow mouth, Ankylogloss... ORPHA:89842
1P21.3 Microdeletion Syndrome
Broad nasal tip, Micrognathia, Wide mouth, Deeply set eye, Long ear, Short nose ORPHA:293948
Donohue Syndrome
Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Ovarian cyst, Proptosis, Low-set ears... OMIM:246200
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Craniosynostosis, Moyamoya phenomenon ORPHA:401986
Curry-Jones Syndrome
Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Intestinal malrotation, Lip ... OMIM:601707
Mucolipidosis Ii Alpha/Beta
Anteverted nares, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Micrognathia, Hypertelori... OMIM:252500
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Hemiparesis, Hypertension, Arteriosclerosis, Cerebral ischem... ORPHA:494424
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Extrahepatic cholestasis, Lymp... ORPHA:100078
Hyperlysinemia
Neck hypertonia, Short stature, Poor motor coordination, Craniosynostosis, Spastic tetraparesis, ... ORPHA:2203
Isolated Permanent Neonatal Diabetes Mellitus
Apraxia, Failure to thrive, Ketonuria, Ataxia, Prominent metopic ridge, Bilateral ptosis, Hypovol... ORPHA:99885
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Proteinuria, Vulval varicose vein, Weight loss, Hematuria, ... ORPHA:71273
Anterior Segment Dysgenesis 2
Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia OMIM:610256
Melioidosis
Abnormal parotid gland morphology, Parotitis ORPHA:31202
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Congestive heart failure, Emphysema, Intracranial hemorrhage, H... ORPHA:363618
Leptospirosis
Hepatomegaly, Pericarditis, First degree atrioventricular block, Conjunctival hyperemia, Cellular... ORPHA:509
Meningioma
Back pain, Enlarged pituitary gland, Decreased circulating cortisol level, Hemifacial spasm, Abno... ORPHA:2495
Omphalocele Syndrome, Shprintzen-Goldberg Type
Anal atresia, Hypoplasia of the pharynx, Scoliosis ORPHA:3164
Microtia With Meatal Atresia And Conductive Deafness
Wide mouth, Aplasia/Hypoplasia of the middle ear, Microtia, Anotia, Conductive hearing impairment OMIM:251800
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Short neck, High, narrow palate, Vertebral segmentation defect, Low-set, p... ORPHA:373
Fatal Familial Insomnia
Weight loss OMIM:600072
Oculocerebrocutaneous Syndrome
Hypertelorism, External ear malformation, Cryptorchidism, Orofacial cleft, Wide mouth, Iris colob... ORPHA:1647
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Supernu... ORPHA:464
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Pyomyositis
Recurrent cutaneous abscess formation, Renal insufficiency, Sudden cardiac death, Leukocytosis, W... ORPHA:764
Oromandibular Dystonia
Weight loss ORPHA:93958
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Uplifted earlobe, Short philtrum, Widely spaced teeth, Chorioretinal coloboma, Conductive hearing... OMIM:280000
Kallmann Syndrome
Hypoplasia of penis, Ataxia, Recurrent fractures, Tremor, Cryptorchidism, Breast hypoplasia, Obes... ORPHA:478
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Faciocardiomelic Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Cuboid-shaped vertebral bodies, Dental ma... OMIM:612731
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Hypertonia, Gait disturbanc... ORPHA:682
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, In... ORPHA:231625
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Hamartoma of tongue, Aplasia of the epiglottis, Cleft palate, Anteriorly... OMIM:615948
Perry Syndrome
Weight loss OMIM:168605
African Trypanosomiasis
Urinary incontinence, Tremor, Choreoathetosis, Conjunctivitis, Abnormal EKG, Hepatomegaly, Abnorm... ORPHA:3385
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Dystonia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteri... OMIM:175780
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Br... ORPHA:1465
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Deeply set eye OMIM:305390
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Short stature, Renal salt wasting, Long penis, Testicular a... ORPHA:90795
Tsh-Secreting Pituitary Adenoma
Osteopenia, Tremor, Hyperhidrosis, Periodic hypokalemic paresis, Hyperthyroidism, Osteoporosis, H... ORPHA:91347
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Plantar hyperkeratosis, ... ORPHA:2909
Norrie Disease
Narrow nasal bridge, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Cry... ORPHA:649
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Hemiplegia/hemi... ORPHA:440437
Microtia-Anotia
Holoprosencephaly OMIM:600674
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Prominent nose, Wide nasal bridge, Wide mouth, Umbilical hernia, Long philtrum, Malar flattening ORPHA:1292
Hydranencephaly
Stiff neck, Postnatal growth retardation, Abnormal internal carotid artery morphology, Dilatation... ORPHA:2177
Machado-Joseph Disease Type 1
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276238
Machado-Joseph Disease Type 2
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276241
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia, Iris coloboma OMIM:269400
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Pallister-Hall Syndrome
Hemivertebrae, Gonadotropin deficiency, Depressed nasal ridge, Bifid uvula, Microretrognathia, Lo... ORPHA:672
Oligomeganephronia
Branchial cyst, Optic disc coloboma, Hearing impairment, Micrognathia ORPHA:2260
Microtia
Holoprosencephaly ORPHA:83463
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Wide mouth, Open mouth, Tented upper lip vermilion ORPHA:500533
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Cryptococcosis
Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Mediastinal lymph... ORPHA:1546
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Bowing of the leg... ORPHA:1652
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Broad jaw, Exaggerated cupid's bow, Micrognathia, Bulbous nose, Wide mouth, Macroglossia, High pa... OMIM:614501
Acrofacial Dysostosis 1, Nager Type
Posteriorly rotated ears, Aganglionic megacolon, Prominent nasal bridge, Micrognathia, Cleft uppe... OMIM:154400
Poliomyelitis
Stiff neck, Paralysis, Paraparesis, Inability to walk, Paralytic ileus, Hyperkinetic movements, F... ORPHA:2912
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Ablepharon Macrostomia Syndrome
Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, W... ORPHA:920
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Mandibular prognathia, Wide mouth, Widely spaced teeth, Protruding tongue ORPHA:98795
Floating-Harbor Syndrome
Short neck, Prominent nose, Downturned corners of mouth, Deeply set eye, Short philtrum, Conducti... OMIM:136140
Trichohepatoneurodevelopmental Syndrome
Dental crowding, Hypertelorism, Bulbous nose, Steatorrhea, Downturned corners of mouth, Macroglos... OMIM:618268
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Abnormal dental enamel morphology, Choanal atresia, Hypertelorism, High, n... ORPHA:2658
Chronic Graft Versus Host Disease
Pancytopenia, Phimosis, Urinary bladder inflammation, Flexion contracture, Xerostomia, Bronchiect... ORPHA:99921
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Right ventricular failure, Decreased circulating antibody level... ORPHA:90363
Familial Pancreatic Carcinoma
Back pain, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepato... ORPHA:1333
Trichothiodystrophy
Hypoplasia of mandible relative to maxilla, Carious teeth, High, narrow palate, Hypertelorism, Bi... ORPHA:33364
Thrombocytopenia 3
Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume OMIM:273900
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Hypertelorism, Broad ... ORPHA:466943
Nocardiosis
Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Lymphadenitis, Dacryocystit... ORPHA:31204
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Urinary incontinence, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Aki... OMIM:234200
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Septo-optic dysplasia, Anterior pituitary hypoplasia, Uplifted earlobe, Mi... OMIM:619841
Intellectual Developmental Disorder, Autosomal Dominant 68
Posteriorly rotated ears, Bulbous nose, Wide mouth, Deeply set eye, High palate, Retrognathia, Ab... OMIM:619934
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Renal Tubular Acidosis Iii
Rickets, Osteomalacia, Periodic paralysis OMIM:267200
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Refsum Disease
Microphthalmia, Sensorineural hearing impairment, Anosmia ORPHA:773
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Small for gestational age, Lobar holoprosencephaly, High palate, Spasticity, Semilobar holoprosen... OMIM:618500
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Thyroid C cell hyperplasia, Delayed eruption of primary teeth OMIM:300952
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... ORPHA:2636
Foodborne Botulism
Cerebral palsy, Xerostomia, Diaphragmatic paralysis, Paralysis ORPHA:228371
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Wide mouth, Deeply set eye, Depressed nasal bridge ORPHA:60040
Somatostatinoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth ... ORPHA:97283
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Short stature, Osteoarthritis, Subdural hemorrhage, Hypertonia, Intrauterine growth retardation, ... OMIM:619714
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Tremor, Finger joint hypermobility, Hypoth... ORPHA:506358
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ovoid vertebral bodies, Coloboma, Platyspondyly, Scoliosis, Microphthalmia ORPHA:85167
Scheie Syndrome
Sensorineural hearing impairment, Wide mouth, Rhinitis, Thick vermilion border, Everted lower lip... ORPHA:93474
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Machado-Joseph Disease Type 3
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276244
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Tapered finger OMIM:618367
Short Syndrome
Telecanthus, Severe short stature, Weight loss, Joint hyperflexibility, Short palm, Brachydactyly ORPHA:3163
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Coffin-Siris Syndrome 1
Conical tooth, Hypotelorism, Short philtrum, High palate, Microdontia, Spina bifida occulta, Depr... OMIM:135900
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97282
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Mandibular prognathia, Protruding tongue, Wide mouth, Widely spaced teeth, Scoliosis ORPHA:98794
Linear Nevus Sebaceus Syndrome
Microphthalmia, Vertebral segmentation defect, Adenoma sebaceum, Iris coloboma ORPHA:2612
Angelman Syndrome Due To A Point Mutation
Mandibular prognathia, Wide mouth, Widely spaced teeth, Protruding tongue ORPHA:411511
Glucagonoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth ... ORPHA:97280
Cardiospondylocarpofacial Syndrome
Decreased testicular size, Posteriorly rotated ears, Anteverted nares, Hypertelorism, Congenital ... OMIM:157800
Igg4-Related Ophthalmic Disease
Sinusitis, Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Abnormality... ORPHA:449563
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... ORPHA:100080
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Raynaud phenomenon, Splenomegaly, Jaundice, Lip telang... OMIM:613471
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... ORPHA:100082
Postinfectious Vasculitis
Cerebral vasculitis, Viral hepatitis, Palpable purpura, Membranoproliferative glomerulonephritis,... ORPHA:48435
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Wide mouth, Esophagitis, Micrognathia ORPHA:79350
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Sponta... ORPHA:2929
X-Linked Intellectual Disability, Nascimento Type
Depressed nasal bridge, Hypertelorism, Underdeveloped nasal alae, Cryptorchidism, Deep philtrum, ... ORPHA:163956
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis OMIM:612301
Amyotrophic Lateral Sclerosis
Spasticity, Xerostomia, Paralysis ORPHA:803
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis, Pneumonia ORPHA:1303
Exercise-Induced Malignant Hyperthermia
Abnormal bleeding, Prolonged QT interval, Acute kidney injury, Anhidrosis, Ataxia, Oliguria, ST s... ORPHA:466650
Pheochromocytoma
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171300
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Low back pain, Weight loss, Neoplasm of the lung, Neoplasm of the... ORPHA:2126
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Papillorenal Syndrome
Sensorineural hearing impairment, Optic disc coloboma, Retinal coloboma, Scoliosis, Microphthalmia OMIM:120330
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Posteriorly rotated ears, Depressed nasal bridge, Accessory oral frenulum, Micrognathia, Short ne... OMIM:266920
Peters Plus Syndrome
Micrognathia, Short neck, Widely spaced teeth, Conductive hearing impairment, Spina bifida occult... ORPHA:709
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... ORPHA:199244
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Abnormality of the gingiva, Gingivitis, Protruding ear, Deeply set eye, Peri... ORPHA:286
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Bifid femur, Aplasia/hypoplasia of the femur, Clinodactyly of th... ORPHA:2769
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Phthisis bulbi, Platyspondyly, Scoliosis, Biconcave vertebral bodies, M... OMIM:259770
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Bradykinesia, Myoclonus, T... OMIM:137440
Parathyroid Carcinoma
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Shortened Q... ORPHA:143
Holoprosencephaly 4
Median cleft lip and palate, Semilobar holoprosencephaly OMIM:142946
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Micrognathia, Buphthalmos, Coloboma, Hypoplasia of the retina, Everted lower lip vermilion, Micro... OMIM:253280
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Deep philtrum, W... OMIM:617260
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Scoliosis, Protruding tongue OMIM:614325
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Intraalveolar phospholipid accumulation, Abnormal pulmonary in... ORPHA:217563
Glioblastoma
Paralysis ORPHA:360
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Weig... ORPHA:679
Autosomal Recessive Spastic Paraplegia Type 20
Prominent nose, Hypertelorism, Low-set ears, Increased overbite, Abnormal nostril morphology ORPHA:101000
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Paralysis, Rigidity, Bone cyst, Osteolysis, Tetraplegia, Hemiparesis, ... ORPHA:2396
Pancreatoblastoma
Weight loss ORPHA:677
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Reduced bone mineral d... ORPHA:652
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Pituitary hypothyroidism, Intracranial hemorrhage, Adr... ORPHA:91350
X-Linked Intellectual Disability, Armfield Type
Mandibular prognathia, Depressed nasal bridge, Micrognathia, Cryptorchidism, Cleft palate, Downtu... ORPHA:85276
Hartsfield Syndrome
Craniosynostosis, Alobar holoprosencephaly, Cleft palate, Lobar holoprosencephaly, Semilobar holo... OMIM:615465
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Spastic/hyperactive bladder, Weight loss, Brady... ORPHA:411602
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypertelorism, Macrotia, Prominent nose, Narrow mouth OMIM:614748
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Familial Exudative Vitreoretinopathy
Microphthalmia, Hearing impairment ORPHA:891
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Linear Skin Defects With Multiple Congenital Anomalies 1
Cleft palate, Anteriorly placed anus, Colonic atresia, Microphthalmia, Iris coloboma, Anal atresi... OMIM:309801
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Floating-Harbor Syndrome
Narrow nasal bridge, Broad nasal tip, Kyphoscoliosis, Persistence of primary teeth, Hypoplasia of... ORPHA:2044
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Ataxia, Dilated cardiomyopathy, Babinski sign, Dysmetria, Weight loss, Gait ata... OMIM:607459
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Aspartylglucosaminuria
Anteverted nares, Depressed nasal bridge, Kyphosis, Thick lower lip vermilion, Hypoplastic fronta... OMIM:208400
Mosaic Trisomy 16
Abnormality of the nose, Large placenta, Wide mouth, Anteriorly placed anus, Craniofacial asymmet... ORPHA:1708
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Narrow nasal bridge, Thin upper lip vermilion, Dental crowding, Anterior pituitary hypoplasia, Ky... ORPHA:466791
Ablepharon-Macrostomia Syndrome
Microtia, third degree, Hypertelorism, Abnormal nasal morphology, Microtia, first degree, Short u... OMIM:200110
Grfoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth ... ORPHA:97261
Inhalational Botulism
Xerostomia, Paralysis ORPHA:254504
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Deeply set eye, Wide... ORPHA:2152
Familial Glucocorticoid Deficiency
Decreased circulating cortisol level, Renal salt wasting, Cryptorchidism, Testicular adrenal rest... ORPHA:361
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Nodular pattern on pulmonary H... OMIM:233450
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system, Hypoplas... OMIM:609049
Distal Renal Tubular Acidosis
Osteomalacia, Paralysis, Rickets, Increased susceptibility to fractures, Reduced bone mineral den... ORPHA:18
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... ORPHA:79102
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Deeply set eye, Shor... ORPHA:261537
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Microphthalmia, Iris coloboma OMIM:221900
Porphyria, Acute Intermittent
Paralytic ileus, Respiratory paralysis, Paralysis OMIM:176000
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Tropical Pancreatitis
Weight loss ORPHA:103918
Sotos Syndrome
Ureteral duplication, Tremor, Flexion contracture, Vesicoureteral reflux, Hypothyroidism, Abnorma... ORPHA:821
Bilateral Polymicrogyria
Micrognathia, Sensorineural hearing impairment, Wide mouth, Low-set ears, Difficulty in tongue mo... ORPHA:268940
Townes-Brocks Syndrome
Rectoperineal fistula, External ear malformation, Cryptorchidism, Wide mouth, Anteriorly placed a... ORPHA:857
Angelman Syndrome
Mandibular prognathia, Protruding tongue, Wide mouth, Widely spaced teeth, Scoliosis ORPHA:72
Townes-Brocks Syndrome 1
Anal stenosis, Rectoperineal fistula, Small for gestational age, Hydrocephalus, Tracheoesophageal... OMIM:107480
Diets-Jongmans Syndrome
Thin upper lip vermilion, Broad nasal tip, Cryptorchidism, Low hanging columella, Wide mouth, Duo... OMIM:618846
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Congenital hip dislocation, Recurrent respiratory infections,... ORPHA:2020
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Cryptorchidism OMIM:613001
Scorpion Envenomation
Bundle branch block, Tremor, Hyperhidrosis, Prominent U wave, Hemifacial spasm, Ketonuria, Ataxia... ORPHA:466677
Tuberous Sclerosis Complex
Renal insufficiency, Retinal astrocytic hamartoma, Retinal hamartoma, Respiratory tract infection... ORPHA:805
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Vertebral segmentation defect, Posterior helix pit, Exaggerated median ton... OMIM:312870
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Sensorineural hearing impairment, Buphthalmos OMIM:310600
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Blau Syndrome
Abnormal salivary gland morphology, Xerostomia ORPHA:90340
Geleophysic Dysplasia 1
Anteverted nares, Wide mouth, Long philtrum, Thickened helices, Short nose, Smooth philtrum OMIM:231050
Gitelman Syndrome
Failure to thrive, Ataxia, Paralysis OMIM:263800
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia, Failure to thrive in infancy, Crazy paving pattern, Acute infectious pneumonia, Foam... ORPHA:264675
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Deeply set eye, Shor... ORPHA:261552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Erosion of oral mucosa, Esophageal ulceration, Anal fissure, Oral mucosal blisters, Carious teeth... ORPHA:79408
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Lipodystrophy, Familial Partial, Type 7
Narrow nasal ridge, Low-set ears, Narrow mouth, Short nose, Tinnitus OMIM:606721
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Sterile pyuria, Renal tubular epithelial necrosis, Beta 2-microglobulinuria, V... ORPHA:91500
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Isolated Exencephaly
Holoprosencephaly ORPHA:563612
Ppoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth ... ORPHA:97278
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Sensorineural hearing impairment OMIM:610651
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Gastrointestinal hemorrhage, Hyperparathyroidism, Pituitary nul... ORPHA:913
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia, Sensorineural hearing impairment OMIM:278730
Pallister-Killian Syndrome
Tented upper lip vermilion, Micrognathia, Short neck, Webbed neck, Anteriorly placed anus, Bifid ... OMIM:601803
Phace Association
Microphthalmia, Optic nerve hypoplasia, Lingual thyroid OMIM:606519
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Ataxia, Tremor, Bilateral ptosis, Dilated cardiomyopathy, Weight ... OMIM:164310
Histiocytoid Cardiomyopathy
Microphthalmia, Cleft palate, Congenital aphakia, Polycystic ovaries ORPHA:137675
Abeta Amyloidosis, Dutch Type
Death in early adulthood, Stroke, Cerebral hemorrhage ORPHA:100006
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Decreased circulating cortisol level, Short stature, Miscarriage, Renal salt wasting, Long... ORPHA:90794
Inhalational Anthrax
Internal hemorrhage, Hypotension, Abnormal sweat gland morphology ORPHA:247257
Adams-Oliver Syndrome 1
Encephalocele, Supernumerary nipple, Cleft upper lip, Cleft palate, Microphthalmia OMIM:100300
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Ectopic thyroid, Microphthalmia, Iris coloboma ORPHA:42775
Lowe Oculocerebrorenal Syndrome
Kyphosis, Cryptorchidism, Platyspondyly, Scoliosis, Microphthalmia, Enamel hypoplasia OMIM:309000
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis OMIM:259730
Acys Amyloidosis
Death in early adulthood, Stroke, Cerebral hemorrhage ORPHA:100008
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Otosclerosis, Cryptorchidism, Large placenta, Abnormal pancreas morphology... ORPHA:116
Tyrosinemia, Type I
Hypophosphatemic rickets, Failure to thrive, Paralytic ileus, Periodic paralysis OMIM:276700
Williams-Beuren Syndrome
Osteopenia, Joint laxity, Colonic diverticula, Incoordination, Failure to thrive in infancy, Kyph... OMIM:194050
Gitelman Syndrome
Failure to thrive, Gout, Paralysis ORPHA:358
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Microphthalmia OMIM:127000
Knobloch Syndrome 2
Recurrent respiratory infections, Patent ductus arteriosus, Abnormal pulmonary interstitial morph... OMIM:618458
Arima Syndrome
Wide mouth, Occipital meningocele, Esophageal varix, Chorioretinal coloboma OMIM:243910
Familial Cerebral Cavernous Malformation
Venous malformation, Scoliosis, Cerebral hemorrhage ORPHA:221061
Pineoblastoma
Paralysis ORPHA:251909

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 Twsg1

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 Twsg1.

No publications found that use IMPC mice or data for Twsg1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Twsg1tm383203(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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