Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 84 |
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Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
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T lymphocytopenia |
ORPHA:169095 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
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Oral mucosal blisters, Carious teeth, Skin erosion, Localized skin lesion, Erythematous papule, A... |
ORPHA:79410 |
Agammaglobulinemia 8A, Autosomal Dominant |
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B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 76 |
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Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Darier Disease |
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Macule, Acrokeratosis, Hypermelanotic macule, Abnormal hair morphology, Plantar pits, Anal mucosa... |
ORPHA:218 |
Cernunnos-Xlf Deficiency |
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Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Immunodeficiency 13 |
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Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Immunodeficiency, Common Variable, 13 |
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Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Wells Syndrome |
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Skin vesicle, Eosinophilia |
ORPHA:901 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Pyoderma gangrenosum, Neutropenia, B lymphocytopen... |
OMIM:150550 |
Erythema Elevatum Diutinum |
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Skin vesicle, Skin nodule |
ORPHA:90000 |
Pemphigoid Gestationis |
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Skin vesicle |
ORPHA:63275 |
Immunodeficiency 62 |
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Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... |
OMIM:618459 |
Immunodeficiency 21 |
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Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Familial Benign Chronic Pemphigus |
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Skin vesicle, Skin erosion, Erythema |
ORPHA:2841 |
Agammaglobulinemia 3, Autosomal Recessive |
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Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Pierre Robin Sequence With Facial And Digital Anomalies |
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Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... |
OMIM:311895 |
Dowling-Degos Disease |
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Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Abnormality of the hand, Palmar pit... |
ORPHA:79145 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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T lymphocytopenia |
DECIPHER:16 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
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Parakeratosis, Oral mucosal blisters, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migra... |
ORPHA:158681 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Urticarial plaque, Facial erythema, Erythematous plaque, Skin vesicle, Palmoplantar erythema, Ery... |
ORPHA:64745 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
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T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Dermatitis Herpetiformis |
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Macule, Skin vesicle, Erythema, Microcytic anemia |
ORPHA:1656 |
Immunodeficiency 68 |
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T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Pyoderma Gangrenosum |
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Skin ulcer, Atrophic scars, Skin vesicle, Myeloid leukemia, Papule |
ORPHA:48104 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Hypotrichosis And Recurrent Skin Vesicles |
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Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu... |
OMIM:613102 |
Agammaglobulinemia 2, Autosomal Recessive |
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Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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T lymphocytopenia, B lymphocytopenia, Skin ulcer |
ORPHA:217390 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Omenn Syndrome |
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Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
Agammaglobulinemia 10, Autosomal Dominant |
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Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Immunodeficiency 57 With Autoinflammation |
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Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia |
OMIM:618108 |
Immunodeficiency 19 |
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T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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T lymphocytopenia, Lymphopenia, B lymphocytopenia |
ORPHA:277 |
Iga Pemphigus |
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Eosinophilia, Annular cutaneous lesion, Skin vesicle, Skin erosion, Skin plaque, Cutaneous abscess |
ORPHA:555905 |
Pemphigus Foliaceus |
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Abnormal oral mucosa morphology, Acantholysis, Erythema, Oral ulcer, Erythematous plaque, Serpigi... |
ORPHA:79481 |
Immunodeficiency 15A |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Catel-Manzke Syndrome |
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Short stature, Camptodactyly of finger, Highly arched eyebrow, Metatarsus valgus, Radial deviatio... |
ORPHA:1388 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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Increased CD4:CD8 ratio, Subcutaneous nodule, B lymphocytopenia, Annular cutaneous lesion, Decrea... |
OMIM:618048 |
Lichen Planus Pemphigoides |
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Skin vesicle, Hyperkeratosis, Abnormal oral mucosa morphology |
ORPHA:254478 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Agammaglobulinemia 6, Autosomal Recessive |
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B lymphocytopenia, Abnormal T cell morphology |
OMIM:612692 |
Immunodeficiency 70 |
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Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... |
OMIM:619705 |
Immunodeficiency 109 With Lymphoproliferation |
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Splenomegaly, Pancytopenia, Absent circulating B cells |
OMIM:620282 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
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Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule |
ORPHA:257 |
Immunodeficiency 43 |
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Subcutaneous nodule, B lymphocytopenia, Reduced natural killer cell count, Lung abscess |
OMIM:241600 |
Robin Sequence-Oligodactyly Syndrome |
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Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... |
ORPHA:3104 |
Dyskeratosis Congenita |
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White hair, Premature graying of hair, Periodontitis, Sparse hair, Skin vesicle, Macule, Alopecia... |
ORPHA:1775 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Immunodeficiency 36 With Lymphoproliferation |
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Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... |
OMIM:616005 |
Immunodeficiency, Common Variable, 1 |
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Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Osteopenia, Craniosynostosis, Abnormality of the dentition, Abnormal h... |
ORPHA:2314 |
Acute Generalized Exanthematous Pustulosis |
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Neutrophilia, Eosinophilia, Leukocytosis, Scaling skin, Neutropenia, Skin vesicle, Purpura |
ORPHA:293173 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... |
OMIM:102700 |
Agammaglobulinemia 9, Autosomal Recessive |
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Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Sweet Syndrome |
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Acute myeloid leukemia, Neutrophilia, Skin nodule, Leukocytosis, Pyoderma gangrenosum, Chronic ly... |
ORPHA:3243 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Increased proportion of transitional B cells, T lymphocytopenia, Decreased proporti... |
OMIM:615513 |
Hennekam-Beemer Syndrome |
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Macule, Short stature, Camptodactyly of finger, Subcutaneous nodule, Erythema, Thick lower lip ve... |
ORPHA:2135 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... |
OMIM:620133 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Aplasia of the thymus, Eosinophilia, Splenomegaly, Erythematous papule, B lymphocytopenia, Abnorm... |
OMIM:602450 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
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T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Leukocyte Adhesion Deficiency Type Ii |
|
Overlapping toe, Severe periodontitis, Short stature, Protruding tongue, Long upper lip, Small fo... |
ORPHA:99843 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
Combined Immunodeficiency, X-Linked |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bone marrow hypoc... |
OMIM:301078 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Isolated Congenital Hypoglossia/Aglossia |
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Microglossia, Aplasia/Hypoplasia of fingers, Cleft palate, Weight loss |
ORPHA:141152 |
Pierre Robin Syndrome |
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Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Faciocardiomelic Dysplasia, Lethal |
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Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Single transvers... |
OMIM:227270 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
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Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, T... |
ORPHA:2928 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Immunodeficiency 104 |
|
Splenomegaly, T lymphocytopenia |
OMIM:608971 |
Activated Pi3K-Delta Syndrome |
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Splenomegaly, B lymphocytopenia |
ORPHA:397596 |
Porphyria Variegata |
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Localized skin lesion, Skin vesicle, Skin erosion, Milia, Anemia |
ORPHA:79473 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
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Short stature, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of car... |
OMIM:620269 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia |
OMIM:614069 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Lymphopenia, Thrombocytopenia, Subcutaneous nodule, Reticulocytopenia, Leukopenia, B lymphocytope... |
ORPHA:508542 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
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Short stature, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, T... |
ORPHA:3201 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Subcutaneous nodule, Abnormality of the elbow, Hyperkeratosis, Atrophic scars, Dermal atrophy, Na... |
ORPHA:89843 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short stature, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongu... |
OMIM:258860 |
Epidermolysis Bullosa, Lethal Acantholytic |
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Syndactyly, Natal tooth, Sandal gap, Alopecia totalis, Acantholysis, Aplasia cutis congenita, Wid... |
OMIM:609638 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia of the radius, Fibu... |
ORPHA:1972 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal lymphocyte morphology, Severe B lymphocytopenia, Autoimmune thrombocytopenia |
ORPHA:293978 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Psoriasiform lesion, Chronic neutropenia, Autoimmune t... |
OMIM:614700 |
Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Subcutaneous nodule, Thick lower lip... |
ORPHA:530 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal distal phalanx morphology of finger, Short stature, Abnormality of the hand, Low posteri... |
ORPHA:1387 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Mohr Syndrome |
|
Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Short stat... |
OMIM:252100 |
Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-posit... |
ORPHA:169154 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:620005 |
Cleidocranial Dysplasia |
|
High, narrow palate, Coxa vara, Glossoptosis, Hypoplastic inferior ilia, Clinodactyly of the 5th ... |
ORPHA:1452 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, Narrow mouth, Whistling appearance, Elbow flexion contracture, Ulna... |
OMIM:277720 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Glossoptosis |
OMIM:614876 |
Odontoonychodermal Dysplasia |
|
Dry hair, Palmoplantar hyperkeratosis, Conical incisor, Widely spaced primary teeth, Smooth tongu... |
OMIM:257980 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormal hair quantity, Brachydactyly, Rhizomelia, Short stature, Abnormality of the humerus, Pre... |
ORPHA:3098 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Short stature, Single transverse palmar crease, Pierre-Robin sequence, ... |
OMIM:613604 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Alopecia, Cachexia, Tapered finger, Malabsorption, Hypogeusia, Furrowed ton... |
ORPHA:2930 |
Orofaciodigital Syndrome Xv |
|
Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe... |
OMIM:617127 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Broad palm, Obesity,... |
OMIM:300602 |
Cohen Syndrome |
|
High, narrow palate, Low anterior hairline, Short philtrum, Clinodactyly of the 5th finger, Finge... |
ORPHA:193 |
Hereditary Acrokeratotic Poikiloderma |
|
Xerostomia, Palmoplantar hyperkeratosis, Gingivitis, Dystrophic fingernails, Papule, Finger synda... |
ORPHA:2907 |
Joubert Syndrome 18 |
|
Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft palate, Lobulated tongue, ... |
OMIM:614815 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormally o... |
ORPHA:1427 |
Seckel Syndrome 2 |
|
Few cafe-au-lait spots, Small for gestational age, Short stature, Growth delay, Clinodactyly of t... |
OMIM:606744 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Long philtrum, Cleft palate, Abnormal metacarpal morphology |
ORPHA:166100 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Cutis laxa, T lymphocyt... |
OMIM:617237 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Congenital hip dislocation, Short stature, Limited elbow movement, Highly arched ... |
OMIM:615065 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Talipes equinovarus, Upper limb amyotrophy |
ORPHA:496689 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Abnormali... |
ORPHA:659 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Short stature... |
OMIM:613091 |
Epilepsy, Progressive Myoclonic, 9 |
|
Short thumb, Microglossia |
OMIM:616540 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia |
OMIM:616084 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Carious teeth, Flared metaphysis, Hypoplastic pubic bone, Glossopt... |
ORPHA:93346 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Micromelia, Metaphyseal... |
ORPHA:440354 |
Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Single transverse palmar crease, Glossoptosis, High palate, Rhizomelia, Short stature... |
OMIM:611209 |
Hartnup Disorder |
|
Glossitis, Short stature |
OMIM:234500 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Rectal abscess, Neutropenia |
OMIM:601495 |
Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory oral frenulum, C... |
OMIM:620107 |
Mulibrey Nanism |
|
Dental crowding, Single transverse palmar crease, Short stature, Enamel hypoplasia, Dental malocc... |
OMIM:253250 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short stature, Abnormal morphology of ulna, Tarsal synostosis, N... |
ORPHA:1307 |
Orofaciodigital Syndrome Type 2 |
|
Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tibia, Finger syn... |
ORPHA:2751 |
Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Reduced bone mineral density, Lobulated tongue, Coarse hair, High palate, Sparse ha... |
ORPHA:2750 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:614669 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine... |
OMIM:200990 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly, Downturned corners... |
OMIM:613443 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Tibial bowing, Femoral bowing, Smooth tongue, Sparse hair, Short... |
OMIM:601559 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Protruding tongue, Gingival overgrowth, Reduced bone ... |
ORPHA:561 |
Orofaciodigital Syndrome Vi |
|
Tibial bowing, Lobulated tongue, High palate, Short stature, Accessory oral frenulum, Cleft upper... |
OMIM:277170 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, B lymphocytopenia |
ORPHA:83617 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
Tarp Syndrome |
|
Failure to thrive, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy... |
OMIM:311900 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Postnatal growth retardation, Abnormal tongue morphology, Downturned corners of... |
ORPHA:531151 |
Mandibuloacral Dysplasia |
|
Alopecia, Dental crowding, Postnatal growth retardation, Abnormal tongue morphology, Hypoplasia o... |
ORPHA:2457 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, B lymphoc... |
ORPHA:221139 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... |
OMIM:300400 |
Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Median cleft lip, Short stature, Micromelia, Postaxial hand polydactyly, Hip disl... |
OMIM:241800 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Patchy alopecia, Short ... |
OMIM:141300 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Osteoporosis, Upper limb unde... |
ORPHA:94068 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Cle... |
ORPHA:2167 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Nail ... |
OMIM:615726 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Short stature, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mes... |
ORPHA:2839 |
Chikungunya |
|
Macule, Periostitis, Erythema, Osteolysis, Gingival bleeding, Skin vesicle, Petechiae |
ORPHA:324625 |
Lelis Syndrome |
|
Yellow nails, Carious teeth, Absent lower eyelashes, Palmoplantar hyperkeratosis, Furrowed tongue... |
ORPHA:140936 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Short philtrum, Clinoda... |
ORPHA:1507 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal... |
OMIM:300963 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Failure to thrive, Short stature, Highly arched eyebrow, Hamar... |
ORPHA:2754 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, T lymphocytopenia, B lymphocytopenia, Cafe-au-lait spot, Thrombocyto... |
OMIM:251260 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Short stature, Abnormality of the dentition, Carious tee... |
ORPHA:158668 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn... |
OMIM:616300 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cachexia, Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Clubbing of fin... |
OMIM:175500 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:391487 |
Cousin Syndrome |
|
Prominent protruding coccyx, Low anterior hairline, Hypoplastic iliac wing, Clinodactyly of the 5... |
OMIM:260660 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Osteopenia, Thick eyebrow, Macrodontia, Short stature, Proximal placement of thumb, Coxa valga, D... |
OMIM:212066 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, B lymphocytopenia, Anemia, Neutropenia |
OMIM:300755 |
Psoriasis 14, Pustular |
|
Parakeratosis, Erythema, Furrowed tongue, Nail dystrophy, Geographic tongue |
OMIM:614204 |
Transient Bullous Dermolysis Of The Newborn |
|
Atrophic scars, Milia |
OMIM:131705 |
Carey-Fineman-Ziter Syndrome |
|
Short stature, Aplasia/Hypoplasia of the tongue, Aplasia of the pectoralis major muscle, Pierre-R... |
ORPHA:1358 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Smooth philtrum, Thin upper lip vermilion, Short stature, Diastema, Furrowed tongue, Short foot, ... |
OMIM:300534 |
Trisomy 8Q |
|
Camptodactyly of finger, Non-midline cleft lip, Bone cyst, Orofacial cleft, Cleft palate, Deep pa... |
ORPHA:1752 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Areflexia of upper limbs, Tongue atrophy, Talipes equinovarus |
OMIM:616155 |
Epidermolysis Bullosa Dystrophica, Pretibial |
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Hyperkeratosis, Atrophic scars, Nail dystrophy |
OMIM:131850 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact... |
OMIM:174300 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Gingival overgrowth, Tracheoesophageal fistula, Fine hair, Furrowed tongue, Hyperkerato... |
ORPHA:1839 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Failure to thrive, Sparse eyelashes, Short stature, Sparse eyebrow, Bil... |
OMIM:618874 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Short palm, Duplication of the distal phalanx of han... |
OMIM:268310 |
Orofaciodigital Syndrome I |
|
Dry hair, Lobulated tongue, High palate, Sparse hair, Syndactyly, Alopecia, Short stature, Hamart... |
OMIM:311200 |
Alg12-Cdg |
|
B lymphocytopenia, Redundant skin, Thrombocytopenia |
ORPHA:79324 |
Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa |
|
Erosion of oral mucosa, Oral mucosal blisters, Atypical scarring of skin, Atrophic scars, Nail dy... |
ORPHA:231568 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Synostosis of carpal bone... |
ORPHA:90652 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Orofacial cleft, Downturned corners of mouth, High palat... |
OMIM:180700 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Orofaciodigital Syndrome Iii |
|
Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Shor... |
OMIM:258850 |
Chronic Graft Versus Host Disease |
|
Alopecia, Esophageal stricture, Erythema, Xerostomia, Intermittent generalized erythematous papul... |
ORPHA:99921 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... |
ORPHA:989 |
Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Alopecia, Failure to thrive, Short stature, Malabsorption, Erythema,... |
ORPHA:37 |
Down Syndrome |
|
Sandal gap, Bilateral single transverse palmar creases, Aganglionic megacolon, Protruding tongue,... |
ORPHA:870 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Scapular winging, Shoulder girdle muscle weakness, Tongue atrophy |
OMIM:158900 |
Epidermolysis Bullosa Dystrophica, Autosomal Dominant |
|
Atrophic scars, Milia |
OMIM:131750 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... |
OMIM:192445 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Overlapping toe, Metatarsus adductus, Short thumb, High, narrow palate, Abnormal ... |
ORPHA:436003 |
Bazex-Dupre-Christol Syndrome |
|
Nevus, Furrowed tongue, Coarse hair, Pili torti, Sparse hair, Milia, Trichorrhexis nodosa |
OMIM:301845 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Failure to thrive, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Ap... |
ORPHA:364577 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Weight loss, Macroglossia, Glos... |
ORPHA:2221 |
Gracile Bone Dysplasia |
|
Failure to thrive, Short stature, Flared metaphysis, Slender long bone, Decreased skull ossificat... |
OMIM:602361 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... |
OMIM:602483 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Hyperextensibility of the finger joints, Glossoptosis, Failure to thrive, Cleft palate |
OMIM:618356 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Bone marrow hypocellularity, Neutr... |
ORPHA:101096 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Micromelia, Bowing of the legs, Pro... |
OMIM:200600 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Synophrys, Aplasia of the distal phalanx of the 5th finger, Oligodont... |
OMIM:608670 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:611926 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Hammertoe, Talipes equinovarus, Tongue fasciculations, Tongue atrophy |
OMIM:601596 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Sparse scalp hair, Tented upper lip vermilion, Overlapping toe, Single transve... |
ORPHA:464738 |
Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Long palm, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Abnormality of the philtrum, Abnorma... |
ORPHA:2759 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... |
ORPHA:958 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Aplasia cutis congenita on trunk or limbs, Alopecia, Craniosynostosis, Oral mucosal blisters, Ery... |
ORPHA:79396 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Short stature, Cleft lip, Dental malocclusion, Gingival overgrowth, Cl... |
OMIM:616894 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Single transverse palmar crease, Tapered finger, Protruding tongue, Synophrys, Widow's peak, Broa... |
OMIM:617804 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Absent circulating B cells |
OMIM:307200 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Drumstick terminal phalanges, Thin ve... |
OMIM:612938 |
Cowden Syndrome |
|
Macule, Short stature, Subcutaneous nodule, Bone cyst, Hypopigmented skin patches, Melanocytic ne... |
ORPHA:201 |
Auriculocondylar Syndrome |
|
Dental crowding, Hamartoma of tongue, Narrow mouth, Periauricular skin pits, Microglossia, Dental... |
ORPHA:137888 |
Mandibulofacial Dysostosis With Alopecia |
|
Preauricular pit, Alopecia, Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth,... |
OMIM:616367 |
Developmental And Epileptic Encephalopathy 80 |
|
Tented upper lip vermilion, Tapered finger, Protruding tongue, Wide mouth, Growth delay, High pal... |
OMIM:618580 |
Pontocerebellar Hypoplasia, Type 1B |
|
Growth delay, Tongue atrophy, Hip dislocation, Tongue fasciculations |
OMIM:614678 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Skin erosion, Growth delay, Atrophic scars, Palmoplantar ke... |
ORPHA:79411 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease... |
ORPHA:3472 |
Kinsship Syndrome |
|
Osteopenia, Single transverse palmar crease, Synophrys, Downturned corners of mouth, Short philtr... |
OMIM:619297 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Sandal gap, Broad hallux, Dental crowding, Synophrys, Obesity, Narrow p... |
OMIM:616078 |
Autosomal Dominant Robinow Syndrome |
|
Micromelia, High, narrow palate, Abnormality of the gingiva, Naevus flammeus of the eyelid, Coxa ... |
ORPHA:3107 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of hair texture, Abnormality of the dentiti... |
ORPHA:2752 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Sparse eyebrow, Elbow flexion contracture, Absent pubic hair, Furro... |
OMIM:148210 |
Tarp Syndrome |
|
Finger syndactyly, Failure to thrive, Single transverse palmar crease, Rocker bottom foot, Postax... |
ORPHA:2886 |
Catel-Manzke Syndrome |
|
Single transverse palmar crease, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid... |
OMIM:616145 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Splenomegaly, Postauricular pit, T lymphocytopenia, B lymp... |
OMIM:619381 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture... |
ORPHA:2108 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Hypoplastic scapulae, Median cleft lip, Intestinal malrotation, Hamartoma of tongue,... |
OMIM:269860 |
Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Esophageal stenosis, Anal fissure, Carious teeth, Skin erosion, Narrow mouth, ... |
ORPHA:89842 |
X-Linked Agammaglobulinemia |
|
Alopecia, Short stature, Malabsorption, Hypopigmented skin patches, Skin ulcer, Weight loss, Glos... |
ORPHA:47 |
Rabson-Mendenhall Syndrome |
|
Dental crowding, Thick hair, Short stature, Abnormality of the dentition, Low anterior hairline, ... |
ORPHA:769 |
Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... |
OMIM:615607 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Anteriorly placed anus, Cutaneous finger syndactyly, Spa... |
OMIM:151050 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Bowing of the long bones, Sacral dimple, Short stature, Camptodactyly of finger, Micr... |
ORPHA:3206 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy |
ORPHA:216873 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Pallor, Narrow mouth, Gl... |
ORPHA:54028 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Few cafe-au-lait spots, Dental crowding, Single transverse palmar crease, Short stature, Protrudi... |
OMIM:618106 |
Marshall-Smith Syndrome |
|
Irregular dentition, Brittle hair, Large sternal ossification centers, Synophrys, Distal widening... |
OMIM:602535 |
Raine Syndrome |
|
Natal tooth, Bowing of the long bones, Increased bone mineral density, Short stature, Micromelia,... |
OMIM:259775 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly, Cleft palate, Fu... |
OMIM:616449 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... |
OMIM:600802 |
Au-Kline Syndrome |
|
Sacral dimple, Failure to thrive, Overlapping toe, Postaxial polydactyly, Coxa valga, Supernumera... |
OMIM:616580 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Arachnodactyly, Short stature, H... |
ORPHA:261330 |
Distal Deletion 15Q |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Finger clinodactyly, Short philtru... |
ORPHA:1596 |
Frontorhiny |
|
Camptodactyly of finger, Widow's peak, Dermoid cyst, Cleft palate, Finger clinodactyly, Preauricu... |
ORPHA:391474 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Short stature, Tapered finge... |
ORPHA:488642 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Bilateral cleft lip and palate, Clinodactyly of the 5th finger, Bifid ton... |
ORPHA:2001 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
Kleefstra Syndrome 1 |
|
Natal tooth, Single transverse palmar crease, Persistence of primary teeth, Protruding tongue, Sy... |
OMIM:610253 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations |
OMIM:613435 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short stature, Short foot, Hand polydactyly, High palate, F... |
ORPHA:250989 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Dental crowding, 2-3 toe syndactyly, Narrow palate |
ORPHA:313892 |
Hypoglossia-Hypodactylia |
|
Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia |
OMIM:103300 |
Ring Chromosome 22 Syndrome |
|
Protruding tongue, 2-3 toe syndactyly, Growth delay, Large hands, Thick vermilion border, Thick e... |
ORPHA:1446 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture, Erythema, Abnormality of the elbow, Palmoplantar hyperkeratosis, Erythemato... |
ORPHA:158673 |
Cowden Syndrome 5 |
|
Skin tags, Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyp... |
OMIM:615108 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Abnormal palate morphology, Short philtrum,... |
ORPHA:3241 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral densi... |
ORPHA:50945 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Tongue fasciculations, Intrinsic hand muscle atrophy, Tongue atrophy |
OMIM:620285 |
Robinow Syndrome |
|
Dental crowding, Orofacial cleft, Syndactyly, Short stature, Persistence of primary teeth, Mesome... |
ORPHA:97360 |
Pallister-Hall Syndrome |
|
Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Syndactyly, Mesoaxial foot po... |
OMIM:146510 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifi... |
ORPHA:453504 |
Solar Urticaria |
|
Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifi... |
ORPHA:352665 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Short stature, Protruding tongue, Adducted thumb, Low anterior hairline, Growth delay, Excessive ... |
OMIM:608779 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue |
OMIM:618732 |
Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Coxa valga, Gingival overgrowth, Narrow mouth, Limb undergrowth, Failure to th... |
OMIM:230600 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Localized skin lesion, Esophageal stricture, Growth delay, ... |
ORPHA:79409 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count |
OMIM:242860 |
Immunodeficiency 40 |
|
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia |
OMIM:616433 |
Cowden Syndrome 6 |
|
Skin tags, Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyp... |
OMIM:615109 |
Chand Syndrome |
|
Curly hair, Short fifth metatarsal, Bifid tongue, Cleft palate, Agenesis of permanent teeth, Abno... |
ORPHA:1401 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Preauricular pit, Osteopenia, Craniosynostosis, Cleft palate, Furrowed tongue, Downturned corners... |
ORPHA:453499 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... |
ORPHA:79124 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
U-Shaped upper lip vermilion, Coxa valga, Tapered finger, Diastema, Protruding tongue, Thick lowe... |
OMIM:301040 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,... |
OMIM:615873 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ulnar deviation of the hand, Redundant neck skin, Rocker bottom foot, Single transverse palmar cr... |
OMIM:214100 |
Hartnup Disease |
|
Short stature, Malabsorption, Hypopigmented skin patches, Gingivitis, Glossitis |
ORPHA:2116 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High, narrow palate, Deep philtrum, Low anterior hairline, Downturned corners of mouth, Short phi... |
OMIM:619950 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Short stature, Small for gestational age, Tracheoesophageal fistula, Hi... |
OMIM:277380 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Advanced eruption of teeth, Finger syndactyly, Rhizomelia, Abnormal ... |
ORPHA:818 |
Cowden Syndrome 1 |
|
Skin tags, Colonic diverticula, Acrokeratosis, Palmoplantar hyperkeratosis, Furrowed tongue, Hama... |
OMIM:158350 |
Cerebrocostomandibular Syndrome |
|
Short humerus, Anal stenosis, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft s... |
OMIM:117650 |
Ramos-Arroyo Syndrome |
|
Sparse scalp hair, Severe short stature, Aganglionic megacolon, Shoulder dimple, Carious teeth, X... |
ORPHA:1051 |
Carey-Fineman-Ziter Syndrome 1 |
|
Tapered finger, Pierre-Robin sequence, Cleft palate, Growth delay, Glossoptosis, Pectoralis hypop... |
OMIM:254940 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Protruding tongue, Low anterior hairline, Gingival overgrowth, Wide mouth, Horizontal eyebrow, Hi... |
OMIM:618797 |
Treacher-Collins Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Absent eyelashes,... |
ORPHA:861 |
Distal Deletion 12Q |
|
Single transverse palmar crease, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of... |
ORPHA:96149 |
Epidermolysis Bullosa Pruriginosa |
|
Milia |
OMIM:604129 |
Fontaine Progeroid Syndrome |
|
Redundant skin, High, narrow palate, Synophrys, Low anterior hairline, Anteriorly placed anus, Co... |
OMIM:612289 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Narrow mo... |
ORPHA:79408 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Glossoptosis, Short stature |
ORPHA:2031 |
Hereditary Folate Malabsorption |
|
Cheilitis, Failure to thrive, Glossitis, Pallor |
ORPHA:90045 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Erythematous oral mucosa, Furrowed tongue, Coarse hair, Nail dystrophy, Follicular hype... |
OMIM:158310 |
Hypoglossia With Situs Inversus |
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Microglossia, High palate, Hypodontia, Narrow mouth |
OMIM:612776 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Hypermelanotic macule, Autoimmune thrombocytopenia, Hypopigmented skin patches on arms, T lymphoc... |
OMIM:607944 |
Myopathy, Myofibrillar, 7 |
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Shoulder flexion contracture, Elbow flexion contracture, Talipes equinovarus, Tongue atrophy |
OMIM:617114 |
Stickler Syndrome |
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Arachnodactyly, Protrusio acetabuli, Abnormal dental enamel morphology, Cleft upper lip, Open bit... |
ORPHA:828 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi... |
OMIM:263520 |
Charcot-Marie-Tooth Disease Type 4B2 |
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Proximal muscle weakness in upper limbs, Tongue atrophy, Hand muscle weakness, Areflexia of upper... |
ORPHA:99956 |
Congenital Sialidosis Type 2 |
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Protruding tongue, Gingival overgrowth, Polydactyly, Generalized hypertrichosis, Petechiae |
ORPHA:93400 |
Charcot-Marie-Tooth Disease Type 1F |
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Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Tongue atrophy, A... |
ORPHA:101085 |
Agel Amyloidosis |
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Tongue atrophy, Xerostomia, Cutis laxa, Nail dystrophy, Sparse hair, Dry skin, Diffuse skin atrophy |
ORPHA:85448 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Abnormal thumb morphology, Everted lower lip vermilion, Smooth philtrum, Protruding tongue |
ORPHA:324410 |
Hutchinson-Gilford Progeria Syndrome |
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Dental crowding, Short lingual frenulum, Reduced bone mineral density, High palate, Dystrophic fi... |
ORPHA:740 |
Down Syndrome |
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Redundant neck skin, Sandal gap, Single transverse palmar crease, Aganglionic megacolon, Protrudi... |
OMIM:190685 |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
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Nail dystrophy, Congenital localized absence of skin, Oral mucosal blisters |
OMIM:132000 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Smooth philtrum, Syndactyly, Short stature, Cleft lip, Widow's peak, Multiple cafe-au-lait spots,... |
OMIM:616975 |
Ataxia-Telangiectasia |
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Lymphopenia, Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplasia of the thymus, Decreased... |
OMIM:208900 |
Angelman Syndrome Due To A Point Mutation |
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Hypopigmentation of hair, Protruding tongue, Obesity, Wide mouth, Widely spaced teeth |
ORPHA:411511 |
Imerslund-Gräsbeck Syndrome |
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Angular cheilitis, Weight loss, Pallor, Failure to thrive, Glossitis |
ORPHA:35858 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
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Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Microcephaly 26, Primary, Autosomal Dominant |
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Short stature, Protruding tongue, Prominent eyelashes, Gingival overgrowth, Long philtrum, Failur... |
OMIM:619179 |
Okur-Chung Neurodevelopmental Syndrome |
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Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Highly arched eyebrow, P... |
OMIM:617062 |
Tetraamelia Syndrome 2 |
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Absent nipple, Bilateral cleft lip, Cleft palate, Glossoptosis, Ankyloglossia |
OMIM:618021 |
Charcot-Marie-Tooth Disease Type 4C |
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Tongue atrophy, Hammertoe, Hip dysplasia, Tongue fasciculations, Difficulty in tongue movements, ... |
ORPHA:99949 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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Hyperpigmented nevi, T lymphocytopenia, Microcytic anemia |
ORPHA:2959 |
Angelman Syndrome |
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Protruding tongue, Obesity, Wide mouth, Macroglossia, Widely spaced teeth, Fair hair |
OMIM:105830 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
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Highly arched eyebrow, Protruding tongue, Synophrys, Obesity, Downturned corners of mouth, Macrog... |
ORPHA:96147 |
Meckel Syndrome, Type 1 |
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Syndactyly, Bowing of the long bones, Thin upper lip vermilion, Natal tooth, Camptodactyly of fin... |
OMIM:249000 |
Degcags Syndrome |
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Osteopenia, Synophrys, Low anterior hairline, Premature graying of hair, High palate, Pallor, Syn... |
OMIM:619488 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Curly hair, Thin upper lip vermilion, Short stature, Thick hair, Highly arched eyebrow, Synophrys... |
ORPHA:444077 |
9q subtelomeric deletion syndrome |
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Synophrys, Protruding tongue |
DECIPHER:52 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Postauricular pit, Narrow greater sciatic notch, Short palm, Preauricular pit, Exaggerated median... |
OMIM:312870 |
Hypomandibular Faciocranial Dysostosis |
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Pursed lips, Coronal craniosynostosis, Aglossia |
OMIM:241310 |
Agnathia-Otocephaly Complex |
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Microglossia, Aglossia, Cleft palate, Narrow mouth |
OMIM:202650 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
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Cleft palate, Growth delay, Stomatitis, Intrauterine growth retardation, Failure to thrive, Gloss... |
ORPHA:79284 |
Smith-Lemli-Opitz Syndrome |
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Dental crowding, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Bifid uvu... |
OMIM:270400 |
Generalized Pustular Psoriasis |
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Overweight, Cheilitis, Obesity, Erythematous plaque, Geographic tongue |
ORPHA:247353 |
Hypomandibular Faciocranial Dysostosis |
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Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Narrow mouth, Bifid uvula |
ORPHA:1790 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Wide mouth, Hypopigmentation of hair, Widely spaced teeth, Protruding tongue |
ORPHA:98795 |
Developmental And Epileptic Encephalopathy 100 |
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Tented upper lip vermilion, Single transverse palmar crease, Protruding tongue, Bilateral camptod... |
OMIM:619777 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Preauricular pit, Thin upper lip vermilion, Natal tooth, Absent nipple, Broad hallux, Single tran... |
OMIM:620186 |
Joubert Syndrome 1 |
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Highly arched eyebrow, Protruding tongue, Postaxial hand polydactyly, Postaxial foot polydactyly,... |
OMIM:213300 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Sacral dimple, Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia... |
ORPHA:508533 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
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Tented upper lip vermilion, Widely-spaced maxillary central incisors, High palate, Short stature,... |
OMIM:309580 |
Giant Cell Arteritis |
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Alopecia, Glossitis, Skin ulcer, Weight loss |
ORPHA:397 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Hypopigmentation of hair, Protruding tongue, Obesity, Wide mouth, Widely spaced teeth |
ORPHA:98794 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Short fourth metatarsal, Single transverse palmar crease, Synophrys, Low anterior hairline, Short... |
OMIM:619841 |
Melkersson-Rosenthal Syndrome |
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Macroglossia, Cheilitis, Furrowed tongue |
ORPHA:2483 |
T-Cell Immunodeficiency With Thymic Aplasia |
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T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, Aplas... |
ORPHA:83471 |
Orofaciodigital Syndrome Type 14 |
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Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of tongue, Postaxial ha... |
ORPHA:434179 |
Brown-Vialetto-Van Laere Syndrome 1 |
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Hand muscle atrophy, Tongue atrophy, Tongue fasciculations |
OMIM:211530 |
Cerebrocostomandibular Syndrome |
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Short stature, Cleft palate, Glossoptosis, Clinodactyly of the 5th finger, Intrauterine growth re... |
ORPHA:1393 |
Spinocerebellar Ataxia 36 |
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Tongue atrophy, Tongue fasciculations |
OMIM:614153 |
Spinocerebellar Ataxia Type 36 |
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Tongue atrophy, Tongue fasciculations |
ORPHA:276198 |
Neuroocular Syndrome |
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Hyperextensibility of the finger joints, Brittle hair, Synophrys, Downturned corners of mouth, Wi... |
OMIM:619539 |
Icf Syndrome |
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Macroglossia, Malabsorption, Short stature, Protruding tongue |
ORPHA:2268 |
Opitz Gbbb Syndrome |
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Preauricular pit, Natal tooth, Short stature, Craniosynostosis, Cleft lip, Widow's peak, Tracheoe... |
ORPHA:2745 |
Developmental And Epileptic Encephalopathy 31B |
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Failure to thrive, Gingival overgrowth, Protruding tongue |
OMIM:620352 |
Okamoto Syndrome |
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Exaggerated median tongue furrow, Anal stenosis, Redundant neck skin, Tented upper lip vermilion,... |
ORPHA:2729 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Micromelia, Cleft upper lip, Preaxial hand polydactyly, Postaxial hand polydactyly, Abnormal pelv... |
ORPHA:93271 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
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Proximal muscle weakness in upper limbs, Flexion contracture of finger, Tongue atrophy, Hand musc... |
ORPHA:466768 |
Vici Syndrome |
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Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:242840 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus |
OMIM:618223 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Single transverse palmar crease, High, narrow palate, Synophrys, Short philtrum, High palate, Ove... |
OMIM:619475 |
Juvenile Sialidosis Type 2 |
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Protruding tongue, Gingival overgrowth, Generalized hypertrichosis |
ORPHA:93399 |
Angelman Syndrome |
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Protruding tongue, Obesity, Wide mouth, Widely spaced teeth, Delayed menarche, Fair hair |
ORPHA:72 |
Pallister-Hall Syndrome |
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Large for gestational age, Bifid uvula, Mesoaxial polydactyly, Radial bowing, Short stature, Acce... |
ORPHA:672 |
Ankyloglossia With Or Without Tooth Anomalies |
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Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
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Hand clenching, Protruding tongue |
OMIM:619580 |
Microphthalmia, Syndromic 6 |
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Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
Orofaciodigital Syndrome Xiv |
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Natal tooth, Broad hallux, Hamartoma of tongue, Cleft lip, Postaxial hand polydactyly, Supernumer... |
OMIM:615948 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
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Spontaneous esophageal perforation, Alopecia, Oral mucosal blisters, Narrow mouth, Esophageal str... |
OMIM:226600 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
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Microglossia, Aplasia/Hypoplasia of the eyebrow, Narrow mouth |
ORPHA:990 |
Viss Syndrome |
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Chronic gastritis, High, narrow palate, High palate, Broad uvula, Bifid uvula, Long toe, Alopecia... |
OMIM:619472 |
Meckel Syndrome |
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Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Preaxial hand polydactyly, Postaxial ... |
ORPHA:564 |
Fraser Syndrome |
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Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Abnormal hair pattern, Cleft u... |
ORPHA:2052 |
Pitt-Hopkins-Like Syndrome 2 |
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Wide mouth, Protruding tongue |
OMIM:614325 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Growth delay, Stomatitis, Intrauterine growth retardation, Failure to thrive, Glossitis, Smooth p... |
ORPHA:79282 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
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Ankyloglossia |
OMIM:619352 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Macroglossia, Open mouth, Decreased body weight, Protruding tongue |
ORPHA:258 |
X-Linked Dystonia-Parkinsonism |
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Protruding tongue |
ORPHA:53351 |
Multiple Endocrine Neoplasia Type 2 |
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Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Pallor, Ganglioneuroma... |
ORPHA:653 |
Localized Dystrophic Epidermolysis Bullosa, Nails Only |
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Dystrophic fingernails, Nail dystrophy, Dystrophic toenail |
ORPHA:158676 |
Glucagonoma |
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Intestinal obstruction, Necrolytic migratory erythema, Weight loss, Steatorrhea, Stomatitis, Glos... |
ORPHA:97280 |
Carney Complex |
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Atypical nevi in non-sun exposed areas, Neoplasm of the stomach, Esophageal neoplasm, Hirsutism, ... |
ORPHA:1359 |
Kawasaki Disease |
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Palmoplantar erythema, Abnormality of nail color, Glossitis, Cheilitis |
ORPHA:2331 |
Microsporidiosis |
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Skin nodule, Glossitis, Cachexia, Weight loss |
ORPHA:2552 |
Plague |
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Chapped lip, Localized skin lesion, Abnormality of the elbow, Enterocolitis, Skin ulcer, Inflamma... |
ORPHA:707 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Supernumerary tooth, Failure to thrive, Ankyloglossia, Osteoporosis |
OMIM:619525 |
Bilateral Perisylvian Polymicrogyria |
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Intrauterine growth retardation, Protruding tongue |
ORPHA:98889 |
Nail Disorder, Nonsyndromic Congenital, 8 |
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Dystrophic toenail |
OMIM:607523 |
Choreoacanthocytosis |
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Weight loss, Protruding tongue |
ORPHA:2388 |