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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Pyriform aperture stenosis, Hypotelorism, Solitary median maxillary central incisor, Cleft upper ... OMIM:147250
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Micrognathia, Microphthalmia, Vertebral fusion, Macrotia, Vertebral segmentation de... OMIM:221950
Holoprosencephaly 3
Central diabetes insipidus, Single naris, Hypotelorism, Bifid uvula, Solitary median maxillary ce... OMIM:142945
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Single naris, Absent nares, Bifid uvula, Anosmia, Anophthalmia, Cryptorchidism, Failure of erupti... ORPHA:2250
Holoprosencephaly 9
Hypoplasia of the premaxilla, Cryptorchidism, Panhypopituitarism, Optic nerve hypoplasia, Decreas... OMIM:610829
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
14Q11.2 Microdeletion Syndrome
Narrow mouth, High palate, Deeply set eye, Long philtrum, Everted lower lip vermilion, Deep philt... ORPHA:261120
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Hepatosplenomegaly, Monocytosis, Hemolytic-uremic syndrome, Hemophagocytosis... OMIM:619644
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Oral cleft, Bilateral microphthalmos, Iris ... OMIM:611638
Anophthalmia Plus Syndrome
Vertebral segmentation defect, Anophthalmia, Non-midline cleft lip, Iris coloboma, Choanal atresi... ORPHA:1104
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Absent nares, Aplasia/Hypoplasia involving the nose, Mandibular aplasia, Microgloss... ORPHA:990
Meckel Syndrome, Type 8
Anophthalmia, Short neck, Cleft upper lip, Depressed nasal ridge, Low-set ears, Microphthalmia, S... OMIM:613885
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Reduced proportio... OMIM:615897
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Leukocytos... OMIM:619281
Felty Syndrome
Abnormal lymphocyte morphology, Recurrent pneumonia, Pericarditis, Bone marrow hypocellularity, A... ORPHA:47612
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Narrow mouth, Short neck, Bulbous nose, Low-set ears, Cryptorchidism, Micrognathia, Death in chil... OMIM:618766
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Absent ossification of calv... OMIM:601376
Auriculocondylar Syndrome 2
Narrow mouth, Cleft at the superior portion of the pinna, Low-set ears, Overfolding of the superi... OMIM:614669
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Clinodactyly, Cryptorchidism, Hydronephrosis, Anemia, Mitral regurgitation, Hypoplasia of the thy... OMIM:612541
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased proportion of memory B cells, Decre... OMIM:619510
Immunodeficiency 18
Recurrent respiratory infections, Decreased proportion of CD3-positive T cells, Lymphopenia, Defe... OMIM:615615
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circle lev... OMIM:618986
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Proboscis Lateralis
Long philtrum, Abnormal paranasal sinus morphology, Optic nerve hypoplasia, High palate, Anophtha... ORPHA:141099
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Pancytopenia, Osteopenia, Bone marrow hypocellularity, Reticular pattern on pulmonary HRCT, Usual... OMIM:614742
Fryns Microphthalmia Syndrome
Abnormality of the vertebral column, Anophthalmia, Neural tube defect, Microphthalmia, Bilateral ... OMIM:600776
Ring Chromosome 21 Syndrome
Holoprosencephaly, Fused thoracic vertebrae, Scoliosis, Spasticity, Gait disturbance, Thoracic he... ORPHA:1445
Microphthalmia, Syndromic 12
Broad nasal tip, Anophthalmia, Cryptorchidism, Wide nasal bridge, Micrognathia, Microphthalmia, R... OMIM:615524
Holoprosencephaly
Cryptorchidism, Panhypopituitarism, Scoliosis, Intestinal atresia, Median cleft lip and palate, H... ORPHA:2162
Whistling Face Syndrome, Recessive Form
Narrow mouth, High palate, Short neck, Long philtrum, Trismus, Underdeveloped nasal alae, Microgn... OMIM:277720
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short femur, Short humerus OMIM:600121
Intellectual Developmental Disorder, Autosomal Dominant 26
Narrow mouth, Short philtrum, Thick vermilion border, Anteverted nares, Hypertelorism, Kyphosis, ... OMIM:615834
Myopathy, Congenital, With Tremor
Narrow mouth, High palate, Prominent nasolabial fold, Micrognathia, Lumbar hyperlordosis, Scolios... OMIM:618524
Holoprosencephaly, Recurrent Infections, And Monocytosis
Brachydactyly, Monocytosis, Cryptorchidism, Micropenis, Tapered finger, Failure to thrive, Short ... OMIM:610680
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Amegakaryocytic thrombocytopenia, Clinodactyly of the 5th finger, Radioulnar s... ORPHA:71289
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Abnormal form of the vertebral bodies, Low-set, posteriorly rotated ears, Scoliosis... ORPHA:2370
Microform Holoprosencephaly
Short philtrum, Hypotelorism, Solitary median maxillary central incisor, Panhypopituitarism, Iris... ORPHA:280200
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Failure to thrive in infancy, Paraparesis, Anemia, Thrombocytopenia, Jaundice, Pulm... ORPHA:79124
Oculoauriculofrontonasal Syndrome
Narrow mouth, Underdeveloped nasal alae, Conductive hearing impairment, Microtia, Micrognathia, C... ORPHA:398156
Aspergillosis
Eosinophilia, Hypersensitivity pneumonitis, Pneumonia, Stroke, Abnormality of long bone morpholog... ORPHA:1163
Thrombocytopenia 2
Bruising susceptibility, Leukocytosis, Thrombocytopenia OMIM:188000
Cerebrooculonasal Syndrome
High palate, Solitary median maxillary central incisor, Anophthalmia, Long philtrum, Microdontia,... ORPHA:66625
Warburg Micro Syndrome 1
Narrow mouth, Deeply set eye, Anteverted nares, Low-set ears, Cryptorchidism, Wide nasal bridge, ... OMIM:600118
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Sho... OMIM:200700
Charlie M Syndrome
Narrow mouth, Short philtrum, Non-midline cleft lip, Wide nasal bridge, Micrognathia, Macrotia, T... ORPHA:1406
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Anteverted nares, Short nose ORPHA:1355
Neuropathy, Hereditary Motor And Sensory, Russe Type
Scoliosis, Paralysis, Difficulty walking OMIM:605285
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Cryptorchidism, Wide nasal bridge, Micrognathia, Anisospondyly, Malar flattening, P... OMIM:224410
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacyt... ORPHA:60026
17P13.3 Microduplication Syndrome
Narrow mouth, High palate, Short neck, Low-set ears, Wide nose, Hypertelorism, Short nose ORPHA:217385
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Intention tremor, Splenomegaly, Hepatomegaly, Ptosis, Anemia, Hypersplenism, Thromboc... OMIM:610539
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Incre... OMIM:202700
Mosaic Trisomy 14
High palate, Ectopic anus, Short neck, Cryptorchidism, Wide nasal bridge, Aplasia/Hypoplasia affe... ORPHA:1703
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Micrognathia, Oral synechia, Cleft palate ORPHA:2016
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Dilated cardiomyopathy, Leukopenia, Bone marrow hypocellularity, Osteoporosis, Fail... OMIM:613989
Anencephaly 2
Cleft of alveolar ridge of maxilla, Anophthalmia, Median cleft palate, Anencephaly, Bifid nose, M... OMIM:619452
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Narrow mouth, Short philtrum, Deeply set eye, Kyphosis, Long philtrum, Low-set ears, Abnormality ... OMIM:618443
Microcephaly-Microcornea Syndrome, Seemanova Type
Narrow mouth, High palate, Microphthalmia, Retrognathia ORPHA:2528
Alazami Syndrome
Deeply set eye, Short philtrum, Thick vermilion border, Low-set ears, Wide nasal bridge, Depresse... OMIM:615071
Immunodeficiency 8
Recurrent respiratory infections, Lymphopenia OMIM:615401
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal spaced incisors, Short philtrum, Broad nasal tip, Anophthalmia, Large earlobe, Bulbous n... ORPHA:411986
Chromosome 1P35 Deletion Syndrome
Narrow mouth, High palate, Cryptorchidism, Wide nasal bridge, Micrognathia, Thin upper lip vermil... OMIM:617930
Pierpont Syndrome
Deeply set eye, Uplifted earlobe, Short neck, Hypertelorism, Cryptorchidism, Hearing impairment, ... ORPHA:487825
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased circulating total IgM, Decreased proportion of ... OMIM:618394
Osteogenesis Imperfecta, Type Xii
Narrow mouth, High palate, Progressive hearing impairment, Delayed eruption of teeth, Micrognathi... OMIM:613849
16P13.11 Microdeletion Syndrome
Cleft upper lip, Low-set ears, Cryptorchidism, Sensorineural hearing impairment, Atresia of the e... ORPHA:261236
Tuberculosis
Weight loss ORPHA:3389
Multicentric Reticulohistiocytosis
Cachexia, Arthritis, Histiocytosis ORPHA:139436
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Abnormal pulmonary interstitial morphology, Leukopenia, Myocarditis,... ORPHA:809
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormal vertebral morphology, Hydrocephalus OMIM:618709
Arthrogryposis, Distal, Type 2E
Narrow mouth, Absent antihelix, Trismus, Micrognathia OMIM:121070
Hydrolethalus
Deeply set eye, Bifid uvula, Anophthalmia, Low-set ears, Cryptorchidism, Unilateral cleft lip, An... ORPHA:2189
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Recurrent respiratory infections, Bone-marrow foam cells, Sho... OMIM:607616
Distal Monosomy 13Q
Abnormal form of the vertebral bodies, Anencephaly, Anal atresia, Holoprosencephaly, Encephalocel... ORPHA:1590
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cranial hyperostosis, Motor stereotypy, Micropenis, Upper limb spasticity, Myocardial infarction,... ORPHA:457240
Chromosome 1Q41-Q42 Deletion Syndrome
Holoprosencephaly, Vertebral segmentation defect, Cleft palate OMIM:612530
Burn-Mckeown Syndrome
Narrow mouth, Short philtrum, Bifid uvula, Cleft upper lip, Underdeveloped nasal alae, Bilateral ... OMIM:608572
Sting-Associated Vasculopathy, Infantile-Onset
Raynaud phenomenon, Paratracheal lymphadenopathy, Leukopenia, Joint stiffness, Increased circulat... OMIM:615934
Holoprosencephaly-Postaxial Polydactyly Syndrome
Narrow mouth, Hypotelorism, Absent nares, Hypoplasia of the premaxilla, Cryptorchidism, Intestina... ORPHA:2166
Primary Basilar Invagination
Short neck, Abnormal vertebral morphology, Abnormality of the cervical spine ORPHA:2285
Pulmonary Blastoma
Weight loss ORPHA:64741
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Low-set ears, Cleft palate, Micrognathia OMIM:616570
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Chorioretinal coloboma, Anophthalmia, Iris coloboma OMIM:616428
Macrosomia With Microphthalmia, Lethal
Microphthalmia, Median cleft palate OMIM:248110
Alazami-Yuan Syndrome
Narrow mouth, High palate, Long philtrum, Underdeveloped nasal alae, Cryptorchidism, Dental crowd... OMIM:617126
Hypertelorism, Microtia, Facial Clefting Syndrome
Narrow mouth, Broad nasal tip, Abnormality of the vertebral column, Cleft upper lip, Conductive h... OMIM:239800
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short neck, Abnormal vertebral morphology, Micrognathia, Low-set, posteriorly rotated ears, Thin ... ORPHA:2015
Holoprosencephaly 13, X-Linked
Solitary median maxillary central incisor, Median cleft palate, Septo-optic dysplasia, Low-set ea... OMIM:301043
Fibular Hemimelia
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Short tibia, Incr... ORPHA:93323
Chronic Beryllium Disease
Hypersensitivity pneumonitis, Reticulonodular pattern on pulmonary HRCT, Abnormal proportion of C... ORPHA:133
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Small for gestational age, Failure to thrive in in... OMIM:617241
Hypophosphatasia, Infantile
Decreased calvarial ossification, Vertebral clefting, Micromelia, Anemia, Unossified vertebral bo... OMIM:241500
Otodental Syndrome
Long philtrum, High-frequency sensorineural hearing impairment, Pulp calcification, Retinal colob... ORPHA:2791
Arthrogryposis, Distal, Type 1C
Narrow mouth, High palate, Bifid uvula, Short neck, Cryptorchidism, Limited neck range of motion,... OMIM:619110
Trisomy 13
Deeply set eye, Hypotelorism, Anophthalmia, Kyphosis, Long philtrum, Cystic hygroma, Low-set ears... ORPHA:3378
Holoprosencephaly-Caudal Dysgenesis Syndrome
Low-set ears, Cyclopia, Hypertelorism, Proptosis, Cleft palate, Median cleft lip ORPHA:2165
Hermansky-Pudlak Syndrome 2
Upslanted palpebral fissure, Recurrent pneumonia, Impaired ADP-induced platelet aggregation, Hepa... OMIM:608233
Majeed Syndrome
Metaphyseal irregularity, Leukocytosis, Flexion contracture, Congenital hypoplastic anemia, Incre... ORPHA:77297
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Narrow mouth, Pierre-Robin sequence, Abnormal palate morphology, Abnormality of the nose, Microgn... ORPHA:1150
Trisomy 18
Narrow mouth, Webbed neck, Non-midline cleft lip, Cryptorchidism, Iris coloboma, Anencephaly, Ana... ORPHA:3380
Faciothoracogenital Syndrome
Long philtrum, Micrognathia, Microphthalmia, Smooth philtrum, Thin upper lip vermilion, Anteverte... OMIM:227320
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Narrow mouth, Broad nasal tip, Micrognathia, Thin upper lip vermilion, Hypertelorism, Prominent n... OMIM:617755
Pierpont Syndrome
Deeply set eye, Broad nasal tip, Short neck, Cryptorchidism, Hearing impairment, Widely spaced te... OMIM:602342
Fetal Gaucher Disease
Pancytopenia, Flexion contracture, Splenomegaly, Hepatomegaly, Intracranial hemorrhage, Abnormali... ORPHA:85212
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Delayed epiphyseal ossificat... ORPHA:79106
Auriculocondylar Syndrome 1
Narrow mouth, Cupped ear, Cleft at the superior portion of the pinna, Low-set ears, Overfolding o... OMIM:602483
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Osteoporosis, Hepatomegaly, Growth delay, Failure to thrive, Short stature, Metaphy... OMIM:614727
Immunodeficiency 19
Recurrent respiratory infections, Failure to thrive, Lymphopenia OMIM:615617
Autism Spectrum Disorder Due To Auts2 Deficiency
Narrow mouth, Short philtrum, Anteverted nares, Hypertelorism, Kyphosis, Low-set ears, Cryptorchi... ORPHA:352490
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia, Abnormal bleeding OMIM:188030
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Acute myeloid leukemia, Refractory anemia OMIM:616871
2Q24 Microdeletion Syndrome
Short philtrum, Short neck, Microphthalmia, Low-set, posteriorly rotated ears, Coloboma, Abnormal... ORPHA:1617
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Metaphyseal chondrodysplasia, Death in childhood, Hypoplasia of the thymus, L... OMIM:200900
Stevenson-Carey Syndrome
Narrow mouth, Pierre-Robin sequence, Anteverted nares, Underdeveloped nasal alae, Low-set ears, M... OMIM:611961
Erdheim-Chester Disease
Increased bone mineral density, Abnormality of epiphysis morphology, Congestive heart failure, Dy... ORPHA:35687
Xk Aprosencephaly Syndrome
Narrow mouth, Hypotelorism, Anal atresia, Microphthalmia, Abnormality of the nares ORPHA:3469
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Osteopenia, Pneumonia, Acute myeloid leukemia, Neutropenia, ... ORPHA:486
Congenital Amegakaryocytic Thrombocytopenia
Abnormal form of the vertebral bodies, Decreased skull ossification, Anemia, Scoliosis, Short sta... ORPHA:3319
Immunodeficiency 40
Lymphopenia OMIM:616433
Edinburgh Malformation Syndrome
Narrow mouth, Anteverted nares, Low-set ears, Aplasia/Hypoplasia affecting the eye, Micrognathia,... ORPHA:1895
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4-positiv... ORPHA:3261
Gaucher Disease Type 1
Pancytopenia, Proteinuria, Anemia, Hypersplenism, Thrombocytopenia, Abnormal pulmonary interstiti... ORPHA:77259
Osteomesopyknosis
Kyphosis, Abnormal form of the vertebral bodies, Increased bone mineral density, Sclerotic verteb... ORPHA:2777
Sonoda Syndrome
Narrow mouth, Depressed nasal bridge OMIM:270460
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenitis, Nephrotic syndrome, S... OMIM:618935
Pseudotrisomy 13 Syndrome
Hypotelorism, Cleft upper lip, Low-set ears, Cryptorchidism, Anal atresia, Microphthalmia, Poster... OMIM:264480
Primary Myelofibrosis
Pancytopenia, Petechiae, Hepatosplenomegaly, Leukocytosis, Portal hypertension, Ecchymosis, Throm... ORPHA:824
Forsythe-Wakeling Syndrome
Decreased body weight, Nephrotic syndrome, Osteoporosis, Growth delay, Short stature, Thrombocyto... OMIM:613606
Bardet-Biedl Syndrome 7
Narrow mouth, Deeply set eye, Depressed nasal bridge, Malar flattening, Hypertelorism OMIM:615984
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly,... OMIM:613101
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplastic v... OMIM:601370
Acromicric Dysplasia
Narrow mouth, Ovoid vertebral bodies, Long philtrum, Bulbous nose, Thick lower lip vermilion, Dee... OMIM:102370
Schimke Immunoosseous Dysplasia
Proteinuria, Abnormal immunoglobulin level, Disproportionate short-trunk short stature, Anemia, H... OMIM:242900
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Cupped ear, Bulbous nose, Wide nasal bridge, Micrognathia, Malar flattening, Death ... ORPHA:93946
Mirage Syndrome
Radial club hand, Cryptorchidism, Anemia, Scoliosis, Intracranial hemorrhage, Lymphopenia, Thromb... OMIM:617053
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Abnormality of the thymus, Decr... OMIM:611926
20P12.3 Microdeletion Syndrome
Narrow mouth, Hypertelorism, Long philtrum, Wide nasal bridge, Microtia, Hypoplasia of the maxill... ORPHA:261295
Pulmonary Hemosiderosis
Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis OMIM:178550
Holoprosencephaly 2
Hypotelorism, Bifid uvula, Solitary median maxillary central incisor, Aplasia of the nose, Submuc... OMIM:157170
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Depressed nasal ridge, Sensorineural hearing impairment, Aplasia/Hypoplasia involvi... ORPHA:1529
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Rhizomelia, S... OMIM:619598
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Narrow mouth, Abnormal palate morphology, Micrognathia, Protruding ear, Death in infancy, Short nose ORPHA:1495
Cerebrooculonasal Syndrome
High palate, Solitary median maxillary central incisor, Anteverted nares, Anophthalmia, Low-set e... OMIM:605627
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Osteoporosis, Abnormal B cell count, Anemia, Bence Jones Proteinuria,... ORPHA:100024
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Bone marrow hypocellularity, Portal hypertension, Abnormal pleura morphology,... ORPHA:210136
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Microphthalmia With Limb Anomalies
High palate, Anophthalmia, Cleft upper lip, Low-set ears, Flared nostrils, Deep philtrum, Microph... OMIM:206920
Diffuse Alveolar Hemorrhage
Leukocytosis, Hematuria, Proteinuria, Anemia, Pulmonary venous hypertension, Pulmonary fibrosis, ... ORPHA:90060
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... OMIM:601560
Tetraamelia Syndrome 1
Single naris, Cleft upper lip, Adrenal gland agenesis, Low-set ears, Anal atresia, Micrognathia, ... OMIM:273395
Frontonasal Dysplasia 1
Broad nasal tip, Hypoplastic frontal sinuses, Median cleft palate, Low-set ears, Cranium bifidum ... OMIM:136760
Skin Creases, Congenital Symmetric Circumferential, 2
Narrow mouth, Short neck, Low-set ears, Cryptorchidism, Microdontia, Carious teeth, Microtia, Mic... OMIM:616734
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, My... ORPHA:3226
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Intrauterine growth retardation, Cryptorch... OMIM:613990
Aredyld Syndrome
Brachydactyly, Upslanted palpebral fissure, Abnormality of pelvic girdle bone morphology, Abnorma... ORPHA:1133
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Decreased circulating antibody level, Growth delay, Anemia, ... ORPHA:169079
Camurati-Engelmann Disease
Abnormality of the ulna, Slender build, Craniofacial osteosclerosis, Anemia, Scoliosis, Abnormali... ORPHA:1328
Developmental And Epileptic Encephalopathy 70
Narrow mouth, Low-set ears, Cryptorchidism, Scoliosis, Hypertelorism OMIM:618298
Thanatophoric Dysplasia Type 2
Kyphosis, Joint hyperflexibility, Platyspondyly, Hydrocephalus, Holoprosencephaly, Limitation of ... ORPHA:93274
Baraitser-Winter Syndrome 2
Webbed neck, Short neck, Long philtrum, Microphthalmia, Coloboma, Retrognathia, Oral cleft, Thin ... OMIM:614583
Camptodactyly Syndrome, Guadalajara Type 1
Narrow mouth, High palate, Sacral dimple, Abnormal form of the vertebral bodies, Open bite, Abnor... ORPHA:1327
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypotelorism, Absent gallbladder, Hearing impairment, Atresia of the external auditory canal, Apl... ORPHA:3186
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Portal fibrosis, Pancreatitis, Thrombocytopenia, Intracra... ORPHA:3260
Gaucher Disease
Pancytopenia, Proteinuria, Anemia, Hepatitis, Arthrogryposis multiplex congenita, Death in infanc... ORPHA:355
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Short neck, Multiple joint contractures, Hydranencephaly, Camptodactyly of finger, Holoprosenceph... ORPHA:2570
Kaposiform Lymphangiomatosis
Fractures of the long bones, Subconjunctival hemorrhage, Abnormal pelvis bone morphology, Lymphan... ORPHA:464329
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Sparse bone tr... OMIM:600785
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Recurrent cutaneous abscess formation, Pneumonia, Abnormality of ... ORPHA:229717
Sarcoidosis, Susceptibility To, 2
Emphysema, Clubbing, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Splenomegaly, H... OMIM:612387
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Stroke, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Respiratory tract... ORPHA:444463
Cofs Syndrome
Short neck, Sensorineural hearing impairment, Everted lower lip vermilion, Wide nasal bridge, Mic... ORPHA:1466
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia, Abnormal bleeding OMIM:188020
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Failure to thrive, Increased circula... OMIM:615285
Babesiosis
Leukopenia, Congestive heart failure, Splenomegaly, Hepatomegaly, Jaundice, Myocardial infarction... ORPHA:108
Adult Idiopathic Neutropenia
Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Hereditary Neuropathy With Liability To Pressure Palsies
Scoliosis, Vocal cord paralysis ORPHA:640
Frontoocular Syndrome
Narrow mouth, High palate, Narrow philtrum, Hypotelorism, Low-set ears, Micrognathia, Prominent n... OMIM:605321
Chondrodysplasia With Joint Dislocations, Gpapp Type
Narrow mouth, Hearing impairment, Wide nasal bridge, Micrognathia, Proptosis, Cleft palate, Short... OMIM:614078
Oculocerebrocutaneous Syndrome
Anophthalmia, Cleft ala nasi, Cryptorchidism, Microphthalmia, Orbital encephalocele, Cleft palate OMIM:164180
Crisponi Syndrome
Narrow mouth, High palate, Kyphosis, Long philtrum, Micrognathia, Scoliosis, Wide nose, Death in ... ORPHA:1545
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Interstitial pneumonitis, Osteoporosis, Thrombocytopenia, Ataxia, An... OMIM:127550
Distal Trisomy 6P
Narrow mouth, Short neck, Sacral dimple, Low-set ears, Aplasia/Hypoplasia affecting the eye, Micr... ORPHA:1745
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Freeman-Sheldon Syndrome
Narrow mouth, Deeply set eye, Long philtrum, Underdeveloped nasal alae, Depressed nasal ridge, Cr... ORPHA:2053
Microphthalmia, Syndromic 13
Anteverted ears, Microphthalmia, Coloboma, Kyphoscoliosis, Diastema OMIM:300915
Fetal Valproate Spectrum Disorder
Narrow mouth, Long philtrum, Depressed nasal ridge, Thin vermilion border, Downturned corners of ... ORPHA:1906
Scleroderma
Hypohidrosis, Gastrointestinal telangiectasia, Abnormal pulmonary interstitial morphology, Flexio... ORPHA:801
Weaver-Williams Syndrome
Narrow mouth, Cleft palate, Protruding ear ORPHA:3448
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Glomerulone... ORPHA:99931
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Failure to thrive in infancy, Periostitis, Neutrophilia, Splenomegaly, Hepatomegaly, ... OMIM:612852
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Deeply set eye, Short philtrum, Kyphosis, Everted lower lip vermilion, Scoliosis, Short nose, Man... ORPHA:2429
Sneddon Syndrome
Decreased circulating total IgM, Stroke, Hypertension, Hemiplegia, Cerebral hemorrhage, Lymphopen... OMIM:182410
Schimke Immuno-Osseous Dysplasia
Proteinuria, Disproportionate short-trunk short stature, Anemia, Hypertension, Microscopic hematu... ORPHA:1830
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Thrombocytopenia, Hypertension, Proteinuria OMIM:189800
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Flat capital femoral epiphysis, Wide capital femoral epiphyses, Patellar hypoplasia, Pes planus, ... OMIM:147891
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Intellectual Developmental Disorder, Autosomal Dominant 57
Narrow mouth, High palate, Broad nasal tip, Kyphosis, Scoliosis, Prominent nasal bridge, Posterio... OMIM:618050
Ring Chromosome 10 Syndrome
Large earlobe, Short neck, Long philtrum, Low-set ears, Aganglionic megacolon, Wide nasal bridge,... ORPHA:1438
Temtamy Syndrome
Chorioretinal coloboma, Abnormal palate morphology, Low-set ears, Thick lower lip vermilion, Conv... ORPHA:1777
Acromicric Dysplasia
Narrow mouth, Ovoid vertebral bodies, Long philtrum, Bulbous nose, Thick lower lip vermilion, Ant... ORPHA:969
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal vertebral morphology, Platyspondyly, Restricted large joint movement ORPHA:163665
+173470 integrin, beta-3
Bruising susceptibility, Gastrointestinal hemorrhage, Impaired platelet aggregation, Purpura, Men... OMIM:173470
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Tracheoesophageal fistula, Abnormal vertebral morphology, Esophageal atresia, H... ORPHA:77298
Joubert Syndrome 21
Occipital encephalocele, Anophthalmia, Single naris, Sensorineural hearing impairment OMIM:615636
Flat Face-Microstomia-Ear Anomaly Syndrome
Narrow mouth, Long nose, Long philtrum, Underdeveloped nasal alae, Abnormal oral mucosa morpholog... ORPHA:1968
Severe Hemophilia A
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhage... ORPHA:169802
Congenital Disorder Of Glycosylation, Type Iig
Upslanted palpebral fissure, Butterfly vertebrae, Vertebral segmentation defect, Osteopenia, Intr... OMIM:611209
Trisomy 1Q
Narrow mouth, Hypotelorism, Anophthalmia, Cystic hygroma, Low-set ears, Cryptorchidism, Anal atre... ORPHA:261344
Meier-Gorlin Syndrome 8
Narrow mouth, Low-set ears, Microtia, Micrognathia, Bilateral cryptorchidism, Thick vermilion border OMIM:617564
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumonia, Pulmon... OMIM:178500
Holoprosencephaly 5
Semilobar holoprosencephaly, High palate, Lobar holoprosencephaly, Syntelencephaly, Hydrocephalus... OMIM:609637
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Mmep Syndrome
Cryptorchidism, Microphthalmia, Mandibular prognathia, Oral cleft, Median cleft lip ORPHA:3434
Distal Monosomy 7Q36
Holoprosencephaly, Short neck, Cleft palate, Hypertonia ORPHA:1636
Semilobar Holoprosencephaly
Single naris, High palate, Hypotelorism, Bifid uvula, Solitary median maxillary central incisor, ... ORPHA:220386
Alobar Holoprosencephaly
Single naris, High palate, Hypotelorism, Bifid uvula, Solitary median maxillary central incisor, ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Single naris, High palate, Hypotelorism, Bifid uvula, Solitary median maxillary central incisor, ... ORPHA:93926
Lobar Holoprosencephaly
Single naris, High palate, Hypotelorism, Bifid uvula, Solitary median maxillary central incisor, ... ORPHA:93924
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Short neck, Low-set ears, Wide nasal bridge, Micrognathia, Platyspondyly, Microph... ORPHA:93267
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Intrauterine growth retardation, Thrombocytopenia, Hepatomegaly, Subcut... ORPHA:1980
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Anemia, Epicanthus, Metaphyseal widening, Telecanthus, Thrombocytopenia, Recurrent p... OMIM:617303
Specific Granule Deficiency 2
Brachydactyly, Recurrent pneumonia, Osteopenia, Sandal gap, Death in childhood, Neutropenia, Anem... OMIM:617475
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Pancytopenia, Bone marrow hypocellularity, Leukemia, Pulmonary fibrosis, Myeloid leukemia, Aplast... OMIM:614743
Cerebrooculofacioskeletal Syndrome 1
Deeply set eye, Long philtrum, Sensorineural hearing impairment, Micrognathia, Death in childhood... OMIM:214150
Keppen-Lubinsky Syndrome
Short philtrum, High palate, Shallow orbits, Underdeveloped nasal alae, Open mouth, Abnormally la... ORPHA:435628
Gaucher Disease, Type I
Pancytopenia, Epistaxis, Aortic valve stenosis, Vertebral compression fracture, Splenomegaly, Hep... OMIM:230800
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Holoprosencephaly, Scoliosis, Bilateral cleft lip and palate OMIM:601357
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Spastic paraplegia, Ptosis, Anemia, Scoliosis, Hallux valgus, Thrombocytopenia, Abn... ORPHA:2072
Ohdo Syndrome, X-Linked
Narrow mouth, Long philtrum, Bulbous nose, Cryptorchidism, Hearing impairment, Wide nasal bridge,... OMIM:300895
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Arrhythmia, Congestive heart failure, Hyperlordosis, Cachexia, Gait disturba... ORPHA:157973
2Q32Q33 Microdeletion Syndrome
Narrow mouth, High palate, Anteverted nares, Long philtrum, Low-set ears, Oligodontia, Convex nas... ORPHA:251019
Al-Raqad Syndrome
Narrow mouth, Deeply set eye, Low-set ears, Thin upper lip vermilion, Short nose OMIM:616459
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Cleft upper lip, Long philtrum, Short neck, Low-set ears, Cryptorchidism,... OMIM:243310
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hepatic steatosis, Hypothyroidism, Hepatosplenomegaly, Hypopituitarism, Joint ... OMIM:619013
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Pulmonary i... ORPHA:277
3Q27.3 Microdeletion Syndrome
Narrow mouth, Short philtrum, Deeply set eye, Small earlobe, Low-set ears, Slender nose, Convex n... ORPHA:397695
Cockayne Syndrome Type 2
Anophthalmia, Kyphosis, Widely spaced primary teeth, Enamel hypoplasia, Cryptorchidism, Delayed e... ORPHA:90322
Osteoarthritis With Mild Chondrodysplasia
Joint stiffness, Hip osteoarthritis, Knee osteoarthritis, Beaking of vertebral bodies, Platyspond... OMIM:604864
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Hemophagocyt... OMIM:308240
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Intrauterine growth retardation, Failure to thrive in infancy, Tapered finger, Inabil... OMIM:616801
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Failure to thrive in infancy, C... OMIM:618987
Congenital Factor Ii Deficiency
Abnormal umbilical stump bleeding, Epistaxis, Prolonged bleeding following procedure, Oral cavity... ORPHA:325
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Gastrointestinal hemorrhage, Increased hematocrit, Thrombocyt... OMIM:263300
Christianson Syndrome
Dystonia, Motor stereotypy, Thick eyebrow, Gait ataxia, Adducted thumb, Cachexia, Arthrogryposis ... ORPHA:85278
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Sacral dimple, Long philtrum, Cryptorchidism, Low-set, posteriorly rotated ears, Cl... OMIM:615502
Amyotrophy, Hereditary Neuralgic
Narrow mouth, Hypotelorism, Deeply set eye, Low-set ears, Depressed nasal bridge, Cleft palate, L... OMIM:162100
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Narrow mouth, Deeply set eye, Broad columella, Carious teeth, Thick lower lip vermilion, Prominen... ORPHA:457365
Overlap Myositis
Tetraparesis, Leukopenia, Arthritis, Abnormal pulmonary interstitial morphology, Rheumatoid arthr... ORPHA:206572
Braddock Syndrome
Unilateral renal agenesis, Intrauterine growth retardation, Pulmonary arterial hypertension, Fail... ORPHA:52047
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Anemia, Abnormal bleeding, Thrombocytopenia, Weight loss ORPHA:517
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Growth delay, Death in childhood, Lymphaden... OMIM:619164
Roifman Syndrome
Brachydactyly, Eosinophilia, Prominent eyelashes, Recurrent pneumonia, Hepatosplenomegaly, Irregu... ORPHA:353298
Oculodentodigital Dysplasia, Autosomal Recessive
Narrow mouth, Long nose, Large earlobe, Delayed eruption of teeth, Long philtrum, Underdeveloped ... OMIM:257850
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Hypoplasia of the femoral head, Thrombocytosis, ... OMIM:209950
Bresek Syndrome
Low-set ears, Cryptorchidism, Iris coloboma, Optic nerve hypoplasia, Convex nasal ridge, Aganglio... ORPHA:85284
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Iron deficiency anemia, Elevated propor... OMIM:603909
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
Renpenning Syndrome
Narrow mouth, Short philtrum, Broad columella, Sensorineural hearing impairment, Iris coloboma, H... ORPHA:3242
Nablus Mask-Like Facial Syndrome
Narrow mouth, High palate, Short neck, Long philtrum, Low-set ears, Abnormality of the dentition,... OMIM:608156
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Dystonia, Death in childhood, Spasticity, Thrombocytopenia OMIM:610329
Ohdo Syndrome
Narrow mouth, Anteverted nares, Long philtrum, Cryptorchidism, Hearing impairment, Widely spaced ... OMIM:249620
Frank-Ter Haar Syndrome
Deeply set eye, Short philtrum, Hypertelorism, Delayed eruption of teeth, Kyphosis, Beaking of ve... ORPHA:137834
Raine Syndrome
Microdontia, Micrognathia, Mandibular prognathia, Protruding ear, Cleft palate, Short nose, Narro... OMIM:259775
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Sandal gap, Clinodactyly of the 5th finger, Scoliosis, Small hand, Epica... ORPHA:85293
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Decreased circulating IgG level, Hepatosplenomegaly, Leukocytos... OMIM:618278
Skin Creases, Congenital Symmetric Circumferential, 1
Narrow mouth, High palate, Short neck, Low-set ears, Micrognathia, Microphthalmia, Hypoplastic ni... OMIM:156610
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Thrombocytopenia, Hypertension OMIM:166990
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Narrow mouth, Long philtrum, Oligodontia, Hypodontia, Microdontia, Thin upper lip vermilion, Hype... OMIM:618092
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Pleural effusion, Bronchiectasis, Interlobular septal ... ORPHA:79126
Whipple Disease
Hypothyroidism, Abnormal pyramidal sign, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly,... ORPHA:3452
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Abnormality of T cell physiology, Bone cyst, Abnormal pulmonary interstitial morpho... OMIM:181000
Wt Limb-Blood Syndrome
Pancytopenia, Absent thumb, Leukemia, Hypoplastic anemia, Cryptorchidism, Clinodactyly of the 5th... OMIM:194350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Arthritis, Failure to thrive, Panhypogammaglobulinemia, B lymphocyt... OMIM:601457
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Abnormality of epiphysis morphology, Proteinuria, Carpal osteolysis, Telecanthus, Metacarpal oste... ORPHA:2774
Crisponi/Cold-Induced Sweating Syndrome 1
Narrow mouth, High palate, Short neck, Long philtrum, Trismus, Low-set ears, Carious teeth, Micro... OMIM:272430
Oral And Digital Anomalies With Ichthyosis
Narrow mouth, Thin upper lip vermilion OMIM:258840
Maternal Uniparental Disomy Of Chromosome 9
Hamstring contractures, Short neck, Abnormal vertebral morphology, Failure to thrive, Kyphoscolio... ORPHA:96183
8Q21.11 Microdeletion Syndrome
Narrow mouth, High palate, Short philtrum, Short neck, Underdeveloped nasal alae, Low-set ears, C... ORPHA:284160
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Coffin-Siris Syndrome 10
Low-set ears, Persistence of primary teeth, Posteriorly rotated ears, Anteverted nares, Wide mouth OMIM:618506
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Propionic Acidemia
Pancytopenia, Dystonia, Cerebellar hemorrhage, Osteoporosis, Hepatomegaly, Limb hypertonia, Neutr... OMIM:606054
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Hypothyroidism, Chronic neutropenia, Autoimmune he... OMIM:614700
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal bleeding, Abnormal hemoglobin, Thrombo... ORPHA:231393
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Abnormality of epiphysis morphology, Patent ductus arteriosus, Rhizome... ORPHA:1842
Intellectual Developmental Disorder, Autosomal Dominant 43
Narrow mouth, Prominent nasal bridge, Wide nasal bridge OMIM:616977
Sweeney-Cox Syndrome
Narrow mouth, High palate, Short philtrum, Cupped ear, Underdeveloped nasal alae, Low-set ears, S... OMIM:617746
Chromosome 9P Deletion Syndrome
Narrow mouth, High palate, Short neck, Long philtrum, Low-set ears, Wide nasal bridge, Micrognath... OMIM:158170
Spondylo-Ocular Syndrome
Webbed neck, Thoracic kyphosis, Short neck, Long philtrum, Low-set ears, Hypertelorism, Aplasia/H... ORPHA:85194
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Leukemia, Growth delay, Neutropenia, Anemia, Thrombocytopenia OMIM:614082
Triploidy
Narrow mouth, Short neck, Non-midline cleft lip, Cryptorchidism, Intestinal malrotation, Iris col... ORPHA:3376
46,Xx Gonadal Dysgenesis
Osteopenia, Ataxia, Arachnodactyly, Short stature, Osteoporosis of vertebrae, Pulmonary fibrosis,... ORPHA:243
Roifman Syndrome
Clinodactyly of the 5th finger, Irregular femoral epiphysis, Short toe, Brachydactyly, Recurrent ... OMIM:616651
Ataxia-Pancytopenia Syndrome
Pancytopenia, Dysmetria, Hypoplastic anemia, Ataxia, Unsteady gait, Neutropenia, Anemia, Babinski... OMIM:159550
Auriculocondylar Syndrome
Bifid uvula, Question mark ear, Micrognathia, Hamartoma of tongue, Mandibular condyle aplasia, Cl... ORPHA:137888
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Metaphyseal irregularity, Delayed ossification of carpal bones, Short femora... OMIM:607078
Monosomy 18P
Short philtrum, Webbed neck, Short neck, Hypodontia, Carious teeth, Wide nasal bridge, Micrognath... ORPHA:1598
Wiskott-Aldrich Syndrome
Microcytic anemia, Blepharitis, Anemia, Hematemesis, Abnormal platelet morphology, Hypoplasia of ... ORPHA:906
Joubert Syndrome 37
Deeply set eye, High palate, Wide nose, Low-set ears, Cryptorchidism, Wide nasal bridge, Micropht... OMIM:619185
Riddle Syndrome
Decreased circulating IgG level, Intraventricular hemorrhage, Abnormal pulmonary interstitial mor... ORPHA:420741
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Narrow mouth, Long philtrum, Low-set ears, Prominent ear helix, Cryptorchidism, Wide nasal bridge... OMIM:618659
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Snakebite Envenomation
Paralysis, Ecchymosis, Stroke, Acute kidney injury, Hypopituitarism, Cardiogenic shock, Gingival ... ORPHA:449285
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Narrow mouth, Short philtrum, Long philtrum, Wide nasal bridge, Hypertelorism, Downturned corners... OMIM:617333
Acrofacial Dysostosis Syndrome Of Rodriguez
Narrow mouth, High palate, Short philtrum, Deeply set eye, Low-set ears, Wide nasal bridge, Micro... OMIM:201170
Lymphoid Interstitial Pneumonia
Clubbing, Enlarged kidney, Subpleural interstitial thickening, Hepatomegaly, Respiratory tract in... ORPHA:79128
Joubert Syndrome 14
Deeply set eye, Short philtrum, Low-set ears, Open mouth, Tented upper lip vermilion, Microphthal... OMIM:614424
Dislocation Of The Hip-Dysmorphism Syndrome
Narrow mouth, Abnormal palate morphology, Depressed nasal ridge, Prominence of the premaxilla, Wi... ORPHA:2412
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Coloboma OMIM:251505
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Honeycomb lung, Pulmonary insufficiency, Bronchiectasis, Pul... ORPHA:2032
Treacher-Collins Syndrome
Abnormality of the vertebral column, Open bite, Cryptorchidism, Micrognathia, Retrognathia, Hypop... ORPHA:861
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Aplasia/Hypoplasia involving the nose, Choanal atresia, Microphthalmia, Abnormality ... ORPHA:1135
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Portal h... ORPHA:98850
Amed Syndrome, Digenic
Leukopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Anemia, Failure to thrive, Short... OMIM:619151
Marden-Walker Syndrome
Narrow mouth, High palate, Short neck, Long philtrum, Low-set ears, Kyphosis, Cryptorchidism, Mic... OMIM:248700
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Recurrent pneumonia, Decreased circulating total IgM, Increased circulating IgG lev... OMIM:243700
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Narrow mouth, Short philtrum, Hypotelorism, Short neck, Long philtrum, Oligodontia, Sensorineural... ORPHA:391408
Lambotte Syndrome
Narrow mouth, Atresia of the external auditory canal, Convex nasal ridge, Macrotia, Retrognathia,... OMIM:245552
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Pneumonia,... OMIM:607594
Simosa Craniofacial Syndrome
Narrow mouth, Long nose, Long philtrum, Underdeveloped nasal alae, Low-set ears, Wide nasal bridg... OMIM:182150
Tetrasomy 18P
Narrow mouth, Long philtrum, Low-set, posteriorly rotated ears, Scoliosis, Thin vermilion border,... ORPHA:3307
Microphthalmia, Isolated, With Coloboma 6
Coloboma, Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Polymyositis
Dilated cardiomyopathy, Gastrointestinal hemorrhage, Arrhythmia, Arthritis, Congestive heart fail... ORPHA:732
Myopathy, Centronuclear, 5
Narrow mouth, High palate, Micrognathia, Retrognathia OMIM:615959
Arthrogryposis, Distal, Type 2B1
Narrow mouth, High palate, Webbed neck, Long philtrum, Wide nasal bridge, Prominent nasolabial fo... OMIM:601680
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Long philtrum, Sensorineural hearing impairment, Deep philtrum, Wide nasal bridge, Depressed nasa... ORPHA:1825
Cronkhite-Canada Syndrome
Aplasia/Hypoplasia of the eyebrow, Tapered finger, Splenomegaly, Hepatomegaly, Anemia, Cachexia ORPHA:2930
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Narrow mouth, Hypotelorism, Increased vertebral height, Cryptorchidism, Oligodontia, Sensorineura... OMIM:616817
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Diffuse alveolar hemorrhage, Reduced natural killer cell activity, Splenomegaly, An... OMIM:616050
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Coloboma OMIM:614497
Spondylosis, Cervical
Spondylolysis, Osteoarthritis, Spondylolisthesis, Spina bifida occulta, Cervical spondylosis OMIM:184300
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Tonne-Kalscheuer Syndrome
Narrow mouth, Hypotelorism, Velopharyngeal insufficiency, Cryptorchidism, Wide nasal bridge, Micr... OMIM:300978
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Stroke, Choreoathetosis, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Failure to th... ORPHA:79312
Nemaline Myopathy 2
Narrow mouth, High palate, Long philtrum, Low-set ears, Hyperlordosis, Scoliosis, Spinal rigidity... OMIM:256030
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Coloboma, Cleft upper lip, Cleft palate OMIM:120433
Chromosome 14Q11-Q22 Deletion Syndrome
Narrow mouth, High palate, Deeply set eye, Long philtrum, Low-set ears, Cryptorchidism, Micrognat... OMIM:613457
Pontocerebellar Hypoplasia, Type 15
Dystonia, Spastic tetraplegia, Chronic neutropenia, Anemia, Death in infancy, Thrombocytopenia, H... OMIM:619302
Syngap1-Related Developmental And Epileptic Encephalopathy
Narrow mouth, High palate, Deeply set eye, Abnormal tongue physiology, Anteverted ears, Macrotia,... ORPHA:544254
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Brain-Lung-Thyroid Syndrome
Dystonia, Congenital hypothyroidism, Abnormal pulmonary interstitial morphology, Incoordination, ... ORPHA:209905
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Recurrent upper respiratory tract infections, Short neck, Low-set ears, U-Shaped upp... OMIM:300209
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Failure to thrive seco... OMIM:608971
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short neck, Long philtrum, Bulbous nose, Low-set ears, Retinal coloboma, Deep philtrum, Wide nasa... OMIM:618571
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:254361
Trisomy 18P
Narrow mouth, Hypotelorism, Underdeveloped nasal alae, Wide nasal bridge, Micrognathia, High, nar... ORPHA:1715
Idiopathic Achalasia
Weight loss ORPHA:930
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Dystonia, Metaphyseal sclerosis, Osteoporosis, Anemia, Scoliosis, Abnormality of extrapyramidal m... OMIM:612199
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Anteverted nares, Delayed eruption of teeth, Long philtrum, Underdeveloped nasal ala... OMIM:618825
Immunodeficiency 50
Neutropenia, Recurrent respiratory infections, Lymphopenia, Decreased circulating antibody level OMIM:300988
Pontocerebellar Hypoplasia, Type 14
Dystonia, Spastic tetraplegia, Chronic neutropenia, Death in infancy, Thrombocytopenia, Hypertonia OMIM:619301
15Q24 Microdeletion Syndrome
Narrow mouth, Wide nasal base, Abnormal palate morphology, Myelomeningocele, Long philtrum, Kypho... ORPHA:94065
Dyskeratosis Congenita, Autosomal Recessive 1
Pterygium, Bone marrow hypocellularity, Osteoporosis, Nasolacrimal duct obstruction, Sparse eyela... OMIM:224230
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Proptosis, Prominent nose, Micrognathia OMIM:616171
Lambert Syndrome
Branchial anomaly, Malar flattening, Wide mouth ORPHA:1296
Immunodeficiency 13
T lymphocytopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiolit... OMIM:615518
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Narrow mouth, Deeply set eye, Long philtrum, Low-set ears, Everted lower lip vermilion, Microtia,... OMIM:618089
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Thoracic kyphosis, Short neck, Long philtrum, Ovoid vertebral bodies, Micrognathia, ... ORPHA:163649
Hartsfield Syndrome
Non-midline cleft lip, Microphthalmia, Low-set, posteriorly rotated ears, Depressed nasal bridge,... ORPHA:2117
Leukoencephalopathy with metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia, Spastic paraplegia, Gait disturbance, Babinski sign, Tremor OMIM:300660
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Methylmalonic aci... ORPHA:859
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Otodental Dysplasia
Tooth ankylosis, Delayed eruption of teeth, Long philtrum, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Distal Monosomy 17Q
Narrow mouth, Abnormal form of the vertebral bodies, Abnormality of the philtrum, Aplasia/Hypopla... ORPHA:1597
Wolman Disease
Adrenal insufficiency, Splenomegaly, Hepatomegaly, Growth delay, Anemia, Bone-marrow foam cells, ... ORPHA:75233
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Hermansky-Pudlak Syndrome 4
Bruising susceptibility, Menorrhagia, Abnormal platelet granules, Pulmonary fibrosis, Abnormal bl... OMIM:614073
Aicardi-Goutieres Syndrome 7
Spastic tetraparesis, Nephrotic syndrome, Intrauterine growth retardation, Dystonia, Splenomegaly... OMIM:615846
Dyskeratosis Congenita, X-Linked
Pancytopenia, Blepharitis, Pterygium, Cryptorchidism, Osteoporosis, Anemia, Thrombocytopenia, Con... OMIM:305000
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Recurrent bronchitis, Anemia, Thrombocytopenia OMIM:131400
Ataxia-Telangiectasia
Mucosal telangiectasiae, Polycystic ovaries, Decreased circulating antibody level, Ataxia, Telang... ORPHA:100
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short philtrum, Depressed nasal ridge, Low-set ears, Micrognathia, Platyspondyly, Microphthalmia,... ORPHA:163966
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Frequent falls, Hand tremor, Flexion contracture, Vocal cord paralysis, Steppage g... ORPHA:99947
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Narrow mouth, Open mouth, Microdontia, Micrognathia, Delayed eruption of permanent teeth, Antever... OMIM:619356
Gray Platelet Syndrome
Bruising susceptibility, Splenomegaly, Abnormality of thrombocytes, Abnormal bleeding, Thrombocyt... ORPHA:721
Trisomy 17P
Narrow mouth, High palate, Wide nose, Short neck, Low-set ears, Hearing impairment, Thick nasal a... ORPHA:261290
Sarcoidosis
Hypothyroidism, Increased T cell count, Dacryocystitis, Anemia, Bone cyst, Thrombocytopenia, Emph... ORPHA:797
Phosphoglycerate Dehydrogenase Deficiency
Hypertonia, Spastic tetraplegia, Megaloblastic anemia, Growth delay, Adducted thumb, Thrombocytop... OMIM:601815
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Craniosynostosis, Increased bone mineral density, Femur fracture, Sandwich appearan... OMIM:259700
Pelger-Huet Anomaly
Short 5th metacarpal, Kyphosis, Short 4th metacarpal, Upper limb undergrowth, Giant platelets, Mi... OMIM:169400
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly, Craniosynostosis, Hypoplastic vertebral bodies ORPHA:2163
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Narrow mouth, Intestinal lymphangiectasia, Microtia, Depressed nasal bridge, Irregular dentition,... OMIM:616006
Typhoid
Epistaxis, Hypertonia, Cardiac arrest, Gastrointestinal hemorrhage, Arrhythmia, Splenomegaly, Hep... ORPHA:99745
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal antibody leve... OMIM:615513
Limited Cutaneous Systemic Sclerosis
Narrow foramen obturatorium, Contractures involving the joints of the feet, Mucosal telangiectasi... ORPHA:220402
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Increased c... ORPHA:507
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Difficulty walking, Tremor OMIM:158580
Osteopetrosis, Autosomal Recessive 4
Petechiae, Hepatosplenomegaly, Recurrent fractures, Splenomegaly, Hepatomegaly, Growth delay, Ane... OMIM:611490
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate ORPHA:2432
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Neutropenia, Abnormal cardiac ventricular functio... ORPHA:98826
Hemophilia A
Splenic rupture, Gastrointestinal hemorrhage, Oral cavity bleeding, Joint hemorrhage, Bleeding wi... ORPHA:98878
Rhabdoid Tumor
Hematuria, Neoplasm of the liver, Cerebral palsy, Anemia, Hypertension, Lymphadenopathy, Hemipleg... ORPHA:69077
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Autoimmune hemolytic anemia, Aplasia of the thymus, Lymphopenia, Rec... OMIM:102700
Neuralgic Amyotrophy
Narrow mouth, Cleft palate ORPHA:2901
Nance-Horan Syndrome
Supernumerary tooth, Microphthalmia, Prominent nasal bridge, Mandibular prognathia, Protruding ea... ORPHA:627
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Nephrotic syndrome, Proteinuria, Intention tremor, Gait ataxia, Nephropathy, Renal... OMIM:254900
Congenital Disorder Of Glycosylation, Type Iif
Clinodactyly, Aortic regurgitation, Macrothrombocytopenia, Proteinuria, Subcutaneous hemorrhage, ... OMIM:603585
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Holoprosencephaly, Multiple joint contractures OMIM:306990
Schilbach-Rott Syndrome
Narrow mouth, Long nose, Hypotelorism, Bifid uvula, Microtia, Micrognathia, Submucous cleft hard ... OMIM:164220
Hernández-Aguirre Negrete Syndrome
Low-set, posteriorly rotated ears, Deep philtrum, Bulbous nose, Wide mouth ORPHA:2139
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia OMIM:612075
X-Linked Agammaglobulinemia
Recurrent pneumonia, Arthritis, Agammaglobulinemia, Thrombocytopenia, Conjunctivitis, Neutropenia... ORPHA:47
Developmental And Epileptic Encephalopathy 87
High palate, Hypotelorism, Bulbous nose, Widely spaced teeth, U-Shaped upper lip vermilion, Scoli... OMIM:618916
Congenital Factor Xiii Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Spontaneous hematomas, Abnormal umbili... ORPHA:331
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Pneumonia, Cutaneous abscess, Cervical ... ORPHA:3392
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Roberts-Sc Phocomelia Syndrome
Shallow orbits, Underdeveloped nasal alae, Cryptorchidism, Micrognathia, Coloboma, Narrow naris, ... OMIM:268300
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Narrow mouth, High palate, Short philtrum, Bifid uvula, Cryptorchidism, Micrognathia, Depressed n... ORPHA:96184
Spinocerebellar Ataxia 48
Dysmetria, Dystonia, Parkinsonism, Ataxia, Gait ataxia, Chorea, Cachexia, Urinary incontinence, B... OMIM:618093
Xq28 (MECP2) duplication
Narrow mouth, Drooling, Death in childhood, Depressed nasal bridge, Malar flattening, Macrotia DECIPHER:45
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly, Spasticity ORPHA:2523
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Membranous nephropathy, Stage 5 chronic kidney disease, Recurrent up... OMIM:615559
Isovaleric Acidemia
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Cerebellar hemorrhage, Thrombocytopenia, H... OMIM:243500
Wilson Disease
Hepatic steatosis, Bruising susceptibility, Cirrhosis, Weight loss, Arthritis, Splenomegaly, Hepa... ORPHA:905
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Dec... ORPHA:331206
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foo... ORPHA:75508
Proteasome-Associated Autoinflammatory Syndrome 2
Brachydactyly, Clinodactyly, Increased circulating antibody level, Failure to thrive, Lymphadenop... OMIM:618048
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Frontonasal Dysplasia 3
Underdeveloped nasal alae, Wide nasal bridge, Microphthalmia, Low-set, posteriorly rotated ears, ... OMIM:613456
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Micrognathia, Microglossia, Retrognathia, Neonatal death OMIM:227270
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Proteinuria, Acute kidney injury, Anemia, Hypertension, Cerebral hem... OMIM:618886
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Depressed nasal bridge, Abnormal nasal morphology, Hypertelorism ORPHA:83473
Nanophthalmos 4
Microphthalmia OMIM:615972
Microcephaly-Micromelia Syndrome
Narrow mouth, Short neck, Cystic hygroma, Low-set ears, Convex nasal ridge, Micrognathia, Microph... OMIM:251230
Subaortic Stenosis-Short Stature Syndrome
Short neck, Kyphosis, Microdontia, Micrognathia, Microphthalmia, Low-set, posteriorly rotated ear... ORPHA:3191
Shwachman-Diamond Syndrome 1
Pancytopenia, Exocrine pancreatic insufficiency, Metaphyseal sclerosis, Proximal femoral metaphys... OMIM:260400
Cog7-Cdg
Narrow mouth, Short neck, Micrognathia, Retrognathia ORPHA:79333
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Ring Chromosome 7 Syndrome
Narrow mouth, Short philtrum, Hypotelorism, Bifid uvula, Median cleft palate, Thin vermilion bord... ORPHA:1449
Spondyloenchondrodysplasia With Immune Dysregulation
Hypothyroidism, Metaphyseal sclerosis, Rheumatoid arthritis, Scoliosis, Metaphyseal widening, Lym... OMIM:607944
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Unilateral renal agenesis, Hypohidrosis, Intrauterine growth retardation, Cholestas... OMIM:614576
Luo-Schoch-Yamamoto Syndrome
Narrow mouth, Short philtrum, Thick vermilion border, Deeply set eye, Hypertelorism, Widely-space... OMIM:619460
Gaucher Disease, Type Iii
Pancytopenia, Decreased body weight, Spastic paraparesis, Splenomegaly, Hepatomegaly, Ataxia, Sho... OMIM:231000
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Intrauterine growth retardation, Dystonia, Splenomegaly, Hepato... OMIM:610333
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Arthritis, Abnormal pleura morphology, Lymphopenia, Limitation of joint mobility ORPHA:2582
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG... OMIM:233650
Schwartz-Jampel Syndrome
Osteoporosis, Ptosis, Protrusio acetabuli, Micromelia, Scoliosis, Arthrogryposis multiplex congen... ORPHA:800
Nizon-Isidor Syndrome
Narrow mouth, Short philtrum, Deeply set eye, Bulbous nose, Open mouth, Everted lower lip vermili... OMIM:618872
X-Linked Mandibulofacial Dysostosis
High palate, Webbed neck, Cryptorchidism, Conductive hearing impairment, Sensorineural hearing im... ORPHA:1131
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Sinus tachycardia, Atrial fibrillation, Hypertension, Thrombo... ORPHA:525731
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Arachnodactyly, Short stature, Joint stiffness, Cachexia ORPHA:1144
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Underdeveloped nasal alae, Conical tooth, Cryptorchidism, Low-set ears, Microphthalmia, Depressed... ORPHA:228390
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Cranial hyperostosis, Hypertonia, Leukocytosis, Increased bone mineral density, Spa... OMIM:259720
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in ligament tissue, Abnormal vertebral morphology, Failure to thrive, Ectopi... ORPHA:337
Distal Arthrogryposis Type 1
Narrow mouth ORPHA:1146
Interstitial Lung And Liver Disease
Clubbing, Hepatic steatosis, Hypothyroidism, Cholestasis, Thrombocytosis, Intraalveolar phospholi... OMIM:615486
Pettigrew Syndrome
High-frequency hearing impairment, Thick vermilion border, Deeply set eye, Sensorineural hearing ... OMIM:304340
Gombo Syndrome
Microphthalmia OMIM:233270
Noonan Syndrome 12
Supravalvular aortic stenosis, Thrombocytopenia, Proximal placement of thumb, Decreased response ... OMIM:618624
Immunodeficiency 31C
Hypothyroidism, Osteopenia, Autoimmune hemolytic anemia, Growth delay, Recurrent respiratory infe... OMIM:614162
Glass Syndrome
Narrow mouth, High palate, Long nose, Bulbous nose, Conical tooth, Low-set ears, Oligodontia, Nar... OMIM:612313
Mcdonough Syndrome
Short palpebral fissure, Kyphosis, Cryptorchidism, Ptosis, Scoliosis, Short stature, Cachexia, Sy... ORPHA:2471
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Hypopl... OMIM:267500
Congenital Rubella Syndrome
Intrauterine growth retardation, Patent ductus arteriosus, Splenomegaly, Hepatomegaly, Jaundice, ... ORPHA:290
Neurooculocardiogenitourinary Syndrome
Low-set ears, Sensorineural hearing impairment, Microphthalmia, Coloboma, Prominent nasal bridge,... OMIM:618652
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Preaxial foot polydactyly, Abnormality of fibula mo... ORPHA:1988
Juvenile Amyotrophic Lateral Sclerosis
Dystonia, Opisthotonus, Scoliosis, Clonus, Axial dystonia, Head titubation, Tip-toe gait, Urinary... ORPHA:300605
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Scoli... OMIM:609813
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Narrow mouth, Thoracic kyphoscoliosis, Cervical spinal canal stenosis, Prelingual sensorineural h... ORPHA:436174
Preeclampsia
Elevated systolic blood pressure, Intrauterine growth retardation, Polycystic ovaries, Small for ... ORPHA:275555
Temtamy Preaxial Brachydactyly Syndrome
Narrow mouth, Abnormal spaced incisors, Severe sensorineural hearing impairment, Low-set ears, Ol... ORPHA:363417
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Bruising susceptibility, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leuk... ORPHA:231401
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Hydronephrosis, Metopic synostosis, Arthrogryposis multiplex congenita, Telecanth... OMIM:301056
Vissers-Bodmer Syndrome
Holoprosencephaly, Decreased body weight OMIM:619033
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Thakker-Donnai Syndrome
Narrow mouth, Webbed neck, Rectovaginal fistula, Cervical C2/C3 vertebral fusion, Short neck, Bul... ORPHA:1780
Microphthalmia, Isolated 4
Microphthalmia, Coloboma, Absent testis OMIM:613094
Bone Marrow Failure Syndrome 4
Leukopenia, Bone marrow hypocellularity, Rhizomelia, Decreased circulating antibody level, Anemia... OMIM:618116
Asbestos Intoxication
Pleural thickening, Lung adenocarcinoma, Mediastinal lymphadenopathy, Interlobular septal thicken... ORPHA:2302
Progeroid Facial Appearance With Hand Anomalies
Narrow mouth, Short philtrum, Conductive hearing impairment, Protruding ear, Thin vermilion borde... OMIM:602249
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microdontia, Widely spaced teeth, Micrognathia, Microphthalmia, Macrotia, Wide nose, Anteverted n... OMIM:619694
Gaucher Disease Type 3
Pancytopenia, Increased bone mineral density, Hematuria, Proteinuria, Splenomegaly, Hepatomegaly,... ORPHA:77261
Gabriele-De Vries Syndrome
Dystonia, Intrauterine growth retardation, Cryptorchidism, Joint laxity, Downslanted palpebral fi... OMIM:617557
Split-Hand/Foot Malformation 3
Narrow mouth, High palate, Hypoplasia of the maxilla, Microretrognathia, Cleft palate OMIM:246560
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Short femoral neck, Abnormal foot morpholo... ORPHA:94068
Harrod Syndrome
Narrow mouth, High palate, Long nose, Hypotelorism, Kyphosis, Cryptorchidism, Scoliosis, Protrudi... ORPHA:2115
Omenn Syndrome
Eosinophilia, Pneumonia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Failure to... OMIM:603554
Wolfram Syndrome 1
Hydroureter, Hypothyroidism, Sideroblastic anemia, Limited mobility of proximal interphalangeal j... OMIM:222300
Fryns Macrocephaly
Short upper lip, Short philtrum, Short neck, Everted lower lip vermilion, Thin upper lip vermilio... OMIM:600302
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Narrow mouth, Hyperlordosis, Micrognathia, Scoliosis, Vertebral segmentation defect, Narrow palat... ORPHA:1323
Brucellosis
Sacroiliac arthritis, Arteritis, Anemia, Liver abscess, Hypersplenism, Thrombocytopenia, Bronchit... ORPHA:1304
Insulin-Like Growth Factor I, Resistance To
Narrow mouth, High palate, Webbed neck, Deeply set eye, Long philtrum, Low-set ears, Wide nasal b... OMIM:270450
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Hepatomegaly, Ovarian neoplasm, Anemia, Neoplasm of the lung, Abnormality of... ORPHA:83469
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Leukopenia, Cerebellar hemorrhage, Tubulointerstitial nephritis, Hepatome... OMIM:251000
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Abnormal palate morphology, Delayed eruption of teeth,... ORPHA:2712
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Nephrotic syndrome, Proteinuria, Cryptorchidism, Cerebral artery atherosclerosis, Hyp... ORPHA:1192
Acalvaria
Holoprosencephaly, Spina bifida, Cleft palate, Hydrocephalus ORPHA:945
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the extraocular muscles, Ptosis, Anemia, Cachexia, Cirrhosis, Macrovesicular hepat... ORPHA:298
Microphthalmia With Brain And Digit Anomalies
High palate, Chorioretinal coloboma, Anophthalmia, Cryptorchidism, Sensorineural hearing impairme... ORPHA:139471
Chronic Hiccup
Weight loss ORPHA:396
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hypothyroidism, Hepatosplenomegaly, Failure to thrive in infancy, Decreased pr... OMIM:606367
Frontorhiny
Congenital conductive hearing impairment, Hypoplastic frontal sinuses, Basal encephalocele, Hypop... ORPHA:391474
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Narrow mouth, High palate, Long philtrum, Dental crowding, Protruding ear, Hypertelorism, Short nose OMIM:615539
Isaacs Syndrome
Weight loss ORPHA:84142
Fetal Alcohol Syndrome
Non-midline cleft lip, Microdontia, Micrognathia, Microphthalmia, Low-set, posteriorly rotated ea... ORPHA:1915
Arthrogryposis, Distal, Type 1A
Narrow mouth, Webbed neck, Trismus, Low-set ears, Cryptorchidism, Sensorineural hearing impairmen... OMIM:108120
Subaortic Stenosis--Short Stature Syndrome
Short upper lip, Narrow mouth, Short neck, Low-set ears, Wide nasal bridge, Hypoplasia of the max... OMIM:271960
Methylmalonate Semialdehyde Dehydrogenase Deficiency
High palate, Long philtrum, Bulbous nose, Tented upper lip vermilion, Microphthalmia, Depressed n... OMIM:614105
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Short tibia, Short femur, Aplasia/Hypop... OMIM:612447
Congenital Disorder Of Glycosylation, Type Iy
Deeply set eye, Widely spaced teeth, Micrognathia, Scoliosis, Macrotia, Wide mouth OMIM:300934
Griscelli Syndrome
Abnormal eyebrow morphology, Leukopenia, Bone marrow hypocellularity, Abnormal eyelash morphology...