| Gombo Syndrome |
|
Radial deviation of finger, Clinodactyly, Microcephaly, Brachydactyly, Microphthalmia |
OMIM:233270 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Syndactyly Type 2 |
|
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... |
ORPHA:93403 |
| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... |
OMIM:174500 |
| Synpolydactyly 1 |
|
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... |
OMIM:186000 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Polymicrogyria, Hydrocephalus, Macrocephaly, Postaxial hand polydactyly, Thick corpus callosum, M... |
OMIM:615938 |
| Syndactyly, Type Iv |
|
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... |
OMIM:186200 |
| Syndactyly Type 1 |
|
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... |
ORPHA:93402 |
| Syndactyly, Type Iii |
|
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... |
OMIM:186100 |
| Triphalangeal Thumb With Polysyndactyly |
|
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... |
OMIM:190605 |
| Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... |
OMIM:214450 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... |
ORPHA:3246 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Spinal Muscular Atrophy With Impaired Intellectual Development |
|
Microcephaly, Syndactyly |
OMIM:271109 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly |
OMIM:234280 |
| Polydactyly, Postaxial, Type A1 |
|
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... |
OMIM:174200 |
| Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
| Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
| Sea-Blue Histiocytosis |
|
Hypopigmentation of the skin, Sea-blue histiocytosis, Splenomegaly, Hyperpigmentation of the skin... |
ORPHA:158029 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:300946 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Clouston Syndrome |
|
Cataract, Sparse eyebrow, Alopecia, Small nail, Fine hair, Alopecia totalis, Nail dystrophy, Spar... |
OMIM:129500 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... |
ORPHA:3269 |
| Brachydactyly, Type C |
|
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... |
OMIM:113100 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... |
ORPHA:1891 |
| Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... |
ORPHA:42665 |
| Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly |
OMIM:607539 |
| Nevus Comedonicus Syndrome |
|
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Microcephaly, Spina bifida, Spina bifida... |
ORPHA:64754 |
| Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... |
OMIM:174700 |
| Microphthalmia/Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microcephaly, Microphthalmia |
OMIM:616335 |
| Flotch Syndrome |
|
Sparse eyelashes, Abnormal eyelid morphology, Inflammatory abnormality of the eye, Abnormal eyela... |
ORPHA:2045 |
| Uncombable Hair Syndrome |
|
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
| Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
| Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly |
OMIM:263450 |
| Diamond-Blackfan Anemia 17 |
|
Anemia, Hyperpigmentation of the skin |
OMIM:617409 |
| Brachydactyly, Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ... |
OMIM:112600 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Megaloblastic anemia, Thrombocytopenia, Developmental cataract, Growth... |
OMIM:601815 |
| Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
| Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Intrauterine growth retar... |
OMIM:620501 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly, Microphthalmia |
OMIM:613094 |
| Brachydactyly Type A7 |
|
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... |
ORPHA:93397 |
| Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
| Poikiloderma With Neutropenia |
|
Sparse eyebrow, Recurrent pneumonia, Sparse lateral eyebrow, Recurrent otitis media, Leukopenia, ... |
OMIM:604173 |
| Meckel Syndrome, Type 8 |
|
Occipital encephalocele, Anophthalmia, Encephalocele, Polydactyly, Talipes equinovarus, Microceph... |
OMIM:613885 |
| Jawad Syndrome |
|
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Primary microcephaly, Single interphala... |
OMIM:251255 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Small nail, Persistence of hemoglobin F, Pancytopenia, Cryptorchidism, Hypomelan... |
OMIM:617052 |
| Wolfram Syndrome 1 |
|
Cataract, Pigmentary retinopathy, Growth delay, Sideroblastic anemia, Ptosis, Megaloblastic anemi... |
OMIM:222300 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Microcephaly, 2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Melanocytic nevus, Abnormal hemoglobin, Thrombocytopenia, Anemia, Short stature |
ORPHA:3319 |
| Refractory Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
| Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... |
ORPHA:957 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia... |
OMIM:603552 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Telecanthus, Leukopenia, Attention deficit hyperactivity disorder, A... |
OMIM:619151 |
| Mmep Syndrome |
|
Microcephaly, Triphalangeal thumb, Split foot, Microphthalmia |
ORPHA:3434 |
| Congenital Laryngomalacia |
|
Non-midline cleft of the upper lip, Cleft palate |
ORPHA:2373 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis |
ORPHA:1074 |
| Birk-Aharoni Syndrome |
|
Micropenis, Thick eyebrow, Cryptorchidism, Macrocytic anemia |
OMIM:620071 |
| Acropectoral Syndrome |
|
Finger syndactyly, Preaxial hand polydactyly |
ORPHA:85203 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
| Syndactyly Type 5 |
|
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... |
ORPHA:93406 |
| Syndactyly Type 3 |
|
Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
| Congenital Varicella Syndrome |
|
Cerebral cortical atrophy, Microcephaly, Micromelia, Microphthalmia |
ORPHA:291 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia of toe, Microcep... |
OMIM:600384 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Abnormality of skin pigmentation, Infertility |
OMIM:300719 |
| Wahab Syndrome |
|
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... |
OMIM:615170 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Talipes equinovarus, Microcephaly, Microphtha... |
OMIM:616570 |
| Microphthalmia/Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Immunodeficiency 46 |
|
Neutropenia, Chronic oral candidiasis, Anemia, Conjunctivitis, Intermittent thrombocytopenia |
OMIM:616740 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Cleft palate |
OMIM:106250 |
| Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Anophthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus c... |
OMIM:164180 |
| Dyskeratosis Congenita, X-Linked |
|
Premature graying of hair, Pancytopenia, Cryptorchidism, Sparse eyelashes, Acute myeloid leukemia... |
OMIM:305000 |
| Dyskeratosis Congenita |
|
Periodontitis, Hypopigmented skin patches, White hair, Premature graying of hair, Displacement of... |
ORPHA:1775 |
| Syndactyly Type 4 |
|
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... |
ORPHA:93405 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... |
ORPHA:86841 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hypochromia, Poikilo... |
OMIM:615234 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Bone marrow hypocellularity, Alopecia, Aplastic anemia, Growth delay, Fine hair, Premature grayin... |
OMIM:613990 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ... |
OMIM:617780 |
| X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Alopecia, Hepatitis, Hypopigmented skin patches, Osteomyelitis, Skin rash, A... |
ORPHA:47 |
| Acropectorovertebral Dysplasia |
|
Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Spina bi... |
OMIM:102510 |
| Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bifida, Postaxial hand polydactyly, Ho... |
ORPHA:945 |
| Deafness, Congenital, With Total Albinism |
|
Albinism, Hypogonadism |
OMIM:220900 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... |
OMIM:618167 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia |
ORPHA:71289 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227990 |
| Piebaldism |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... |
ORPHA:2884 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Short stature, Growth delay |
OMIM:612563 |
| Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production |
OMIM:153550 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Hypoplasia o... |
OMIM:615771 |
| Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... |
ORPHA:93320 |
| Frontal Encephalocele |
|
Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Encephalocele, Hydrocephalus, ... |
ORPHA:1931 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Small hypothenar eminence, Talipes equinovarus, Small thenar emine... |
OMIM:211960 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... |
ORPHA:1892 |
| Santos Syndrome |
|
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... |
OMIM:613005 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyebrow, Folliculitis, Keratitis, Sparse eyelashes, Ectropion, Conjunctivitis, Blepharitis |
OMIM:308800 |
| Tularemia |
|
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Leukocytosis, Otitis media... |
ORPHA:3392 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Rheumatoid arthritis, Autoimmune hypoparathyroidism, Iridocyclitis, Tubulointerstitial nephritis,... |
ORPHA:227982 |
| Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... |
OMIM:609432 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... |
ORPHA:157801 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Sparse eyebrow, Folliculitis, Keratitis, Alopecia, Nail dystrophy, Sparse eyelashes, Na... |
OMIM:612843 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... |
OMIM:605289 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Pierre Robin Syndrome And Oligodactyly |
|
Cleft palate, Pierre-Robin sequence |
OMIM:172880 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... |
OMIM:614700 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
| Bifid Uvula |
|
Bifid uvula, Cleft lip, Submucous cleft soft palate |
ORPHA:99771 |
| Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Alopecia, Aplastic anemia, Increased mean corpuscular volume, Premat... |
OMIM:127550 |
| Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
| Microphthalmia With Brain And Digit Anomalies |
|
Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyly, Finger syndactyly, Anophthalmi... |
ORPHA:139471 |
| Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... |
OMIM:261000 |
| Liebenberg Syndrome |
|
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... |
OMIM:186550 |
| Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... |
ORPHA:998 |
| Lichen Planus Pemphigoides |
|
Conjunctivitis, Hypopigmented streaks, Blepharitis, Abnormality of the nail |
ORPHA:254478 |
| Juvenile Temporal Arteritis |
|
Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis |
ORPHA:26137 |
| Crossed Polysyndactyly |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly |
ORPHA:2935 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Recurrent otitis media, Abnormal B cell count, Recurrent sinusitis, Decrea... |
OMIM:613493 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Sparse eyebrow, Downslanted palpebral fissures, Macrocytic anemia, Low posterior hairline, Epican... |
OMIM:606164 |
| Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly |
OMIM:185900 |
| Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... |
OMIM:206920 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Short stature, Psoriasiform dermatitis, Delayed puberty, Blepharitis |
OMIM:616834 |
| Piebald Trait |
|
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... |
OMIM:172800 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair, Short stature, Neutropenia |
ORPHA:90023 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly, S... |
OMIM:610140 |
| Humero-Radial Synostosis |
|
Elbow dislocation, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Microcephaly, Elbow... |
ORPHA:3265 |
| Atelis Syndrome 1 |
|
Cataract, Irregular hyperpigmentation, Eczematoid dermatitis, Downslanted palpebral fissures, Leu... |
OMIM:620184 |
| Cartilage-Hair Hypoplasia |
|
Sparse eyebrow, Absent pubertal growth spurt, Neonatal short-limb short stature, Fair hair, Fine ... |
OMIM:250250 |
| Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... |
OMIM:619947 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase activity |
OMIM:615909 |
| Microcephaly-Cardiomyopathy |
|
Clinodactyly of the 5th finger, Microcephaly, Dilated cardiomyopathy, Sandal gap |
OMIM:251220 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyebrow, Abnormality of the nail, Sparse body hair, Curly eyelashes, Brittle hair, Curly h... |
OMIM:602400 |
| Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... |
ORPHA:488232 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
White forelock, Macular hyperpigmented dermopathy |
ORPHA:2779 |
| Olmsted Syndrome, X-Linked |
|
Posterior blepharitis, Blepharitis |
OMIM:300918 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia, Growth delay |
OMIM:243320 |
| Fibular Hemimelia |
|
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip... |
ORPHA:93323 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Woolly Hair |
|
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... |
ORPHA:170 |
| Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... |
OMIM:615297 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Radioulnar synostosis, Microcephaly, Clinodactyly of the 5th finger, Abnormali... |
ORPHA:3268 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Agitation, Ptosis, Splenomegaly, Macrocytic anemia |
OMIM:619046 |
| Craniotelencephalic Dysplasia |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, Frontal encephal... |
ORPHA:1528 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Thrombocytopenia, Anorexia, Short stature, Diabetes mellitus |
ORPHA:49827 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... |
ORPHA:380 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly, Agenesis of cerebellar vermis, Occipital encephalocele |
OMIM:213010 |
| Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Macrocephaly |
ORPHA:238446 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Folate-unresponsive megaloblastic anemia, Glandular hypospadias, Telecanthus, Abnormal erythrocyt... |
ORPHA:2575 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing... |
ORPHA:1113 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly |
ORPHA:294975 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Cataract, Hypogonadism, Macrocytic anemia, Hypothyroidism, Ptosis, Dysphagia, Diabetes mellitus |
ORPHA:98673 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
| Candidiasis, Familial, 8 |
|
Cheilitis, Seborrheic dermatitis, Blepharitis, Chronic oral candidiasis |
OMIM:615527 |
| Hidrotic Ectodermal Dysplasia |
|
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... |
ORPHA:189 |
| Immunodeficiency 114, Folate-Responsive |
|
Atopic dermatitis, Lymphopenia, Postnatal growth retardation, Splenomegaly, Megaloblastic anemia,... |
OMIM:620603 |
| Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... |
ORPHA:232 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Death in infancy, Cleft palate |
OMIM:258320 |
| Van Der Woude Syndrome 1 |
|
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate |
OMIM:119300 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Intrauteri... |
ORPHA:2133 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Brachydactyly, Clinodactyly, Syndactyly |
OMIM:610023 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Multiple cafe-au-lait spots, Neutropenia, Thrombocytopenia, Leukemia, Growth delay |
OMIM:614082 |
| Split-Hand/Foot Malformation 6 |
|
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot |
OMIM:225300 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
| Syndactyly, Type V |
|
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... |
OMIM:186300 |
| Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia, Microcytic a... |
ORPHA:906 |
| Glutamate Formiminotransferase Deficiency |
|
Growth delay, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:229100 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... |
OMIM:610713 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Splenomegaly, Recu... |
OMIM:607594 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
| Albinism-Deafness Syndrome |
|
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism |
OMIM:300700 |
| Diamond-Blackfan Anemia 5 |
|
Leukopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Short stature, Hypospadias |
OMIM:612528 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... |
OMIM:620044 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Eczematoid dermatitis, Sparse body hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Blepha... |
OMIM:618535 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopenia, Conjunctivitis, T lymph... |
OMIM:601457 |
| Split-Hand/Foot Malformation 1 |
|
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... |
OMIM:183600 |
| Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ... |
OMIM:607624 |
| Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Gingival overgrowth, Cleft palate, Increased overbite |
OMIM:119540 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ankyloblepharon, Vaginal dryness, Lacrimal duct atresia, Sparse body hair, Supernumerary nipple, ... |
OMIM:106260 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Microphthalmia,... |
OMIM:603194 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Macrocytic anemia, Pancreatitis, Thrombocytopenia, Anemia |
ORPHA:27 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabetes insipidus, Di... |
OMIM:598500 |
| Xeroderma Pigmentosum |
|
Cataract, Alopecia, Ankyloblepharon, Keratitis, Hypopigmented skin patches, Hypermelanotic macule... |
ORPHA:910 |
| Atopic Keratoconjunctivitis |
|
Keratitis, Allergic conjunctivitis, Loss of eyelashes, Chemosis, Conjunctival hyperemia, Keratoco... |
ORPHA:163934 |
| Joubert Syndrome 22 |
|
Temporal cortical atrophy, Postaxial foot polydactyly, Hypoplasia of the corpus callosum, 2-3 toe... |
OMIM:615665 |
| Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Type I diabetes mellitus, Eczematoid dermatitis, Postnatal growth retardation, Recurren... |
OMIM:212750 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Premature graying of hair, Splenomegaly, Cholecystitis, Thromb... |
OMIM:620367 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hypoplasia of the corpus callosum, Bowing of the long bones, Microcephaly, Meningo... |
OMIM:611134 |
| 16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Increased mean corpuscular volume, Astigmatism, Upslanted palpebral fissur... |
ORPHA:261250 |
| Acrodermatitis Enteropathica |
|
Abnormality of the nail, Alopecia, Ridged fingernail, Abnormal eyebrow morphology, Ridged nail, P... |
ORPHA:37 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Type I diabetes mellitus, Pituitary adenoma, Hepatitis, Graves disease, Adreno... |
ORPHA:199299 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Narrow mouth, Everted lower lip vermilion, Cleft palate |
ORPHA:2016 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Hypogonadism, Hepatosplenomegaly, Azoospermia, Adrenal insufficiency, Reticulocytop... |
ORPHA:300298 |
| Meckel Syndrome, Type 5 |
|
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Microphthalmia, Po... |
OMIM:611561 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Cleft Palate, Deafness, And Oligodontia |
|
Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth |
OMIM:216300 |
| Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephaloce... |
OMIM:218670 |
| Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
| Orofacial Cleft 13 |
|
Cleft soft palate, Oligodontia |
OMIM:613857 |
| Revesz Syndrome |
|
Bone marrow hypocellularity, Ridged fingernail, Aplastic anemia, Fine hair, Megalocornea, Intraut... |
OMIM:268130 |
| Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Short stature, Growth delay |
OMIM:612527 |
| Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Zika Virus Disease |
|
Myelitis, Retinal pigment epithelial mottling, Intrauterine growth retardation, Skin rash, Infect... |
ORPHA:448237 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Microcytic anemia, Osteomyelitis, Hepatosplenomegaly, Eryth... |
OMIM:609628 |
| Seckel Syndrome 2 |
|
Basal ganglia calcification, Clinodactyly of the 5th finger, Cerebellar hypoplasia, Microcephaly,... |
OMIM:606744 |
| Muckle-Wells Syndrome |
|
Recurrent aphthous stomatitis, Leukocytosis, Conjunctival hyperemia, Short stature, Conjunctiviti... |
OMIM:191900 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Splenomegaly, Recurrent sinus... |
OMIM:240500 |
| Chromosome 15Q25 Deletion Syndrome |
|
Polysplenia, Downslanted palpebral fissures, Intrauterine growth retardation, Cryptorchidism, Mac... |
OMIM:614294 |
| Anophthalmia Plus Syndrome |
|
Deviation of finger, Anophthalmia, Spina bifida |
ORPHA:1104 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... |
OMIM:617021 |
| Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos |
OMIM:613703 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Abnormal T cell morphology, Chronic sinusitis, B lym... |
OMIM:612692 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Keratoconjunctivitis, Iridocyclitis, Hypoparathyroidism, Female hypogonadism, Premature ovarian i... |
OMIM:240300 |
| Muckle-Wells Syndrome |
|
Recurrent aphthous stomatitis, Episcleritis, Skin rash, Splenomegaly, Delayed puberty, Arthritis,... |
ORPHA:575 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Focal cortical dysplasia, Cardiomyopathy, Hypoplasia of the brainst... |
OMIM:613155 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Cryptorchidism, Thiamine-responsive megaloblastic anemia, Thrombocytopenia,... |
OMIM:249270 |
| Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Bilateral microphthalmos, Camptodactyl... |
ORPHA:2839 |
| Down Syndrome |
|
Keratoconus, Cataract, Polycythemia, Decreased fertility, Upslanted palpebral fissure, Acute mega... |
ORPHA:870 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... |
OMIM:300751 |
| Lissencephaly 8 |
|
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Hypo... |
OMIM:617255 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
| Ifap Syndrome 2 |
|
Cataract, Atrichia, Posterior blepharitis, Keratitis, Nail dystrophy, Angular cheilitis, Keratoco... |
OMIM:619016 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polymicrogyria, Polydactyly, Progressive macrocephaly, Hydrocephalus, Cavum septum pellucidum, Mi... |
OMIM:602501 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Cataract, Alopecia, Growth delay, Corneal scarring, Nail dystrophy, Nail dysplasia, Anemia, Conju... |
OMIM:226600 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Congenital Erythropoietic Porphyria |
|
Seborrhoeic blepharitis, Facial hypertrichosis, Hypopigmentation of the skin, Hemolytic anemia, L... |
ORPHA:79277 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Small nail, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, A... |
OMIM:615631 |
| Vernal Keratoconjunctivitis |
|
Allergic conjunctivitis, Conjunctival hyperemia, Keratoconjunctivitis, Punctate keratitis, Blepha... |
ORPHA:70476 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic dyserythropoietic anemia, Macrocytic anemia |
OMIM:619789 |
| Brachydactyly Type B |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... |
ORPHA:93383 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Clinodactyly, Cerebral atrophy, Macrocephaly, Genu valgum, Hypop... |
ORPHA:166024 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
| Porphyria, Congenital Erythropoietic |
|
Alopecia, Hypopigmentation of the skin, Cholelithiasis, Hypertrichosis, Corneal scarring, Splenom... |
OMIM:263700 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Short thumb, Microcephaly, Brachydactyly, Short middle phalanx of finger |
ORPHA:391646 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... |
ORPHA:67044 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida |
ORPHA:2476 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Bifid uvula, Ankyloglossia, Cleft palate |
OMIM:303400 |
| Eec Syndrome |
|
Sparse eyebrow, Coarse hair, Keratitis, Fine hair, Decreased response to growth hormone stimulati... |
ORPHA:1896 |
| Hepatoerythropoietic Porphyria |
|
Seborrhoeic blepharitis, Facial hypertrichosis, Hypopigmentation of the skin, Hemolytic anemia, E... |
ORPHA:95159 |
| Hydrolethalus |
|
Micromelia, Absent septum pellucidum, Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, P... |
ORPHA:2189 |
| Septooptic Dysplasia |
|
Optic disc hypoplasia, Short finger, Absent septum pellucidum, Polydactyly, Agenesis of corpus ca... |
OMIM:182230 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... |
ORPHA:35858 |
| Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613265 |
| Microphthalmia/Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Alopecia, Eczematoid dermatitis, Keratoconjunctivitis, Thrombocytopenia, Anorexi... |
ORPHA:79242 |
| Diamond-Blackfan Anemia 6 |
|
Growth delay, Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Microcornea, Tiger tail banding, Mild intrauterine growth retardation, Slow-growing hair, Brittle... |
OMIM:616943 |
| Schisis Association |
|
Micromelia, Encephalocele, Microcephaly, Spina bifida, Anencephaly |
ORPHA:63862 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Eczematoid dermat... |
OMIM:619774 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Growth delay, Persistence... |
ORPHA:124 |
| Bone Marrow Failure Syndrome 5 |
|
Growth delay, Hypogonadism, Reticular hyperpigmentation, Nail dystrophy, Erythroid hypoplasia, An... |
OMIM:618165 |
| Limb-Mammary Syndrome |
|
Sparse eyebrow, Alopecia, Absent nipple, Lacrimal duct atresia, Breast aplasia, Psoriasiform derm... |
ORPHA:69085 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ... |
OMIM:603546 |
| Brachydactyly Type B2 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... |
ORPHA:140908 |
| Bardet-Biedl Syndrome 22 |
|
Microcephaly, Postaxial foot polydactyly, Macrocephaly, Polydactyly |
OMIM:617119 |
| 2Q24 Microdeletion Syndrome |
|
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... |
ORPHA:1617 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Postnatal growth retardation, Pancytopenia, Intrauterine growt... |
ORPHA:2169 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot |
OMIM:313350 |
| Aplasia Cutis Congenita |
|
Toe syndactyly, Finger syndactyly, Spinal dysraphism |
ORPHA:1114 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Short distal phalanx of finger, Toe syndactyly, Short toe, Camptodactyly of finger, Cubitus valgu... |
ORPHA:1327 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Intrauterine growth retardation, Macrocytic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:615578 |
| Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Central adrenal insufficiency, Anemia of inadequate production, Decreased fertil... |
ORPHA:91349 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Hypoplasia of the pons, Cerebral atrophy, Cerebellar hypoplasia, Talipes equinovarus, Microcephal... |
OMIM:616171 |
| Czeizel-Losonci Syndrome |
|
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Single transverse palmar... |
ORPHA:2437 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia, Abnormality of skin pigm... |
ORPHA:79402 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Intrauterine growth retardation, Recurrent hand flapping, Agitation, ... |
OMIM:309548 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia, Microphthalmia |
OMIM:614830 |
| Acropectoral Syndrome |
|
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly |
OMIM:605967 |
| Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
| Griscelli Syndrome |
|
Iris hypopigmentation, Silver-gray hair, Bone marrow hypocellularity, Hypopigmented skin patches,... |
ORPHA:381 |
| Synpolydactyly 2 |
|
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Leukocytosis, Skin rash, Arthritis, Conjunctivitis, Uveitis |
OMIM:120100 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
| Kid Syndrome |
|
Trichilemmoma, Posterior blepharitis, Aplastic/hypoplastic lacrimal glands, Postnatal growth reta... |
ORPHA:477 |
| Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly |
OMIM:615984 |
| Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Eczematoid dermatitis, Hypertrichosis, Long eyelashes, Thick eyebrow, Cr... |
OMIM:618362 |
| Ermine Phenotype |
|
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... |
OMIM:227010 |
| Curry-Jones Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Agenesis of corpus cal... |
ORPHA:1553 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Intrauterine growth retardation, Recurrent hand flapping, Agitation, ... |
ORPHA:100973 |
| Alazami-Yuan Syndrome |
|
Highly arched eyebrow, Long eyelashes, Thick eyebrow, Cryptorchidism, Low anterior hairline, Hirs... |
OMIM:617126 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Increased serum serotonin, Cataract, Hirsutism, Epicanthus, Hyperactivity, Short stature |
ORPHA:85288 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu... |
ORPHA:811 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Mild postnatal growth retardation, Re... |
OMIM:224120 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia |
ORPHA:51208 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
| Juvenile Xanthogranuloma |
|
Asymmetry of iris pigmentation, Multiple cafe-au-lait spots, Iritis, Myeloproliferative disorder,... |
ORPHA:158000 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... |
ORPHA:93409 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:615113 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Blepharophimosis, Dacryocystitis, Spar... |
OMIM:604292 |
| Infantile Liver Failure Syndrome 1 |
|
Anemia, Macrocytic anemia |
OMIM:615438 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia, Microcephaly, Abnormal morphology of the radius |
ORPHA:3469 |
| Hemochromatosis, Type 3 |
|
Lymphopenia, Hypogonadotropic hypogonadism, Amenorrhea, Hyperpigmentation of the skin, Neutropeni... |
OMIM:604250 |
| Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Thrombocytopenia |
OMIM:209970 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, External genital hypoplasia, Hypogonadotropi... |
ORPHA:177910 |
| Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Split... |
ORPHA:2117 |
| Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Erythroderma, Blepharitis |
OMIM:614328 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac... |
OMIM:300835 |
| Onychotrichodysplasia And Neutropenia |
|
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C... |
OMIM:258360 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Abnormal T cell count, Recurrent otitis media, Pyoderma, Decreased response to growth ... |
OMIM:307200 |
| Moebius Syndrome |
|
Breast aplasia, Epicanthus, Hypogonadotropic hypogonadism, Ptosis, Multiple cafe-au-lait spots, C... |
ORPHA:570 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Dominant Beta-Thalassemia |
|
Growth delay, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hy... |
ORPHA:231226 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Atrophic gastritis, Cleft upper lip, Stomach cancer, Cleft palate |
OMIM:137215 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Highly arched eyebrow, Long eyelashes, Intrauterine growth retardation, Epicanthus, Shawl scrotum... |
ORPHA:261279 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Conjunctivitis, Lymphadenopathy, Arthritis |
OMIM:617772 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Multiple unerupted teeth, Crowded maxillary incisors, Stillbirth |
OMIM:183300 |
| Diamond-Blackfan Anemia 12 |
|
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... |
OMIM:615550 |
| Cockayne Syndrome Type 2 |
|
Male hypogonadism, Intrauterine growth retardation, Cryptorchidism, Developmental cataract, Conju... |
ORPHA:90322 |
| Oslam Syndrome |
|
Short stature, Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... |
ORPHA:98870 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia, Menorrhagia |
OMIM:616176 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Macrocephaly, Syndactyly, Tapered finger |
OMIM:618725 |
| Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
| Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
| Autosomal Agammaglobulinemia |
|
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Epicanthus, Arthritis, Sinusitis, Neutropeni... |
ORPHA:33110 |
| Temtamy Syndrome |
|
Short toe, Aplasia/Hypoplasia of the corpus callosum, Brachydactyly, Macrocephaly, Microphthalmia... |
ORPHA:1777 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Bone marrow hypocellularity, Pancytopenia, Nail dystrophy, Thrombocytopenia, Testicular atrophy, ... |
OMIM:613987 |
| Trichothiodystrophy |
|
Cryptorchidism, Epicanthus, Neutropenia, Brittle hair, Split nail, Microcornea, Eczematoid dermat... |
ORPHA:33364 |
| Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Thrombocytopenia, Corneal opacity |
ORPHA:1980 |
| Cockayne Syndrome Type 1 |
|
Cataract, Pigmentary retinopathy, Male hypogonadism, Postnatal growth retardation, Cryptorchidism... |
ORPHA:90321 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ... |
OMIM:300863 |
| Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic dermal infiltra... |
ORPHA:293173 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Blepharophimosis, Sparse hair, Rectova... |
OMIM:129900 |
| Proteus Syndrome |
|
Downslanted palpebral fissures, Splenomegaly, Ptosis, Depigmentation/hyperpigmentation of skin, L... |
OMIM:176920 |
| Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... |
OMIM:193510 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Joint contracture of the hand, Clinodactyly, Radial deviation of finger... |
OMIM:136760 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Type II lissencephaly, Macrocephaly at birth, Hydrocephalus, Microphthalmia |
ORPHA:324416 |
| Systemic Lupus Erythematosus 17 |
|
Myelitis, Alopecia, Lymphopenia, Leukopenia, Malar rash, Optic neuritis, Thrombocytopenia, Autoim... |
OMIM:301080 |
| Dermatopathia Pigmentosa Reticularis |
|
Nail dystrophy, Alopecia of scalp, Reticular hyperpigmentation, Abnormal conjunctiva morphology |
OMIM:125595 |
| Carpenter Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... |
ORPHA:65759 |
| Lesch-Nyhan Syndrome |
|
Self-injurious behavior, Podagra, Megaloblastic anemia, Short stature, Testicular atrophy, Dysphagia |
OMIM:300322 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Tricuspid regurgitation, ... |
ORPHA:1120 |
| Beta-Thalassemia Major |
|
Growth delay, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hy... |
ORPHA:231214 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Anorexia, Cheilitis |
ORPHA:90045 |
| Refractory Celiac Disease |
|
Normocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, Abnormal spleen physi... |
ORPHA:398063 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Abnormal hair morphology, Attention deficit hyperactivity disorde... |
ORPHA:3000 |
| Femur-Fibula-Ulna Complex |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... |
ORPHA:2019 |
| Vexas Syndrome |
|
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti... |
OMIM:301054 |
| Addison Disease |
|
Adrenal calcification, Anorexia, Hypoparathyroidism, Premature ovarian insufficiency, Thymoma, An... |
ORPHA:85138 |
| Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Megaloblastic anemia |
OMIM:236270 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microcephaly, Microphthalmia |
OMIM:278780 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Hypoplasia of the corpus ... |
OMIM:175700 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Micromelia, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Ence... |
ORPHA:1908 |
| Ring Dermoid Of Cornea |
|
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... |
OMIM:180550 |
| Hypocomplementemic Urticarial Vasculitis |
|
Irregular hyperpigmentation, Episcleritis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis, I... |
ORPHA:36412 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Downslanted palpebral fissures, Microcytic anemia, Cryptorchidism, Epicanthus, Ap... |
ORPHA:98791 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... |
ORPHA:370010 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Skin rash, Splenomegaly, Myositis, Lymphadenopathy, Arthritis, Sinusitis, Anemia, Co... |
OMIM:617591 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Recurrent otitis media, Intrauterine growth retardation, Esoph... |
OMIM:612562 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microcornea, Small nail, Trichorrhexis nodosa, Decreased fertility, Concave nail, Nail dystrophy,... |
OMIM:234050 |
| Microphthalmia, Syndromic 8 |
|
Microcephaly, Split foot, Microphthalmia |
OMIM:601349 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| Crouzon Syndrome |
|
Hypopigmented skin patches, Melanocytic nevus, Ptosis, Conjunctivitis, Iris coloboma |
ORPHA:207 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ... |
OMIM:225280 |
| Braddock-Carey Syndrome 2 |
|
Microcephaly, Clinodactyly, Microphthalmia |
OMIM:619981 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Preeclampsia/Eclampsia 1 |
|
Intrauterine growth retardation, Thrombocytopenia |
OMIM:189800 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Hypogonadism, Intrauterine growth retardation, Esophagitis, Megaloblastic anemia, Developmental c... |
ORPHA:79351 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic... |
ORPHA:848 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Highly arched eyebrow, Insulin-resistant diabetes mellitus, Microcytic anemia, Decreased testicul... |
ORPHA:293967 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Dermatitis, Atopic |
|
Allergic rhinitis, Keratoconus, Atopic dermatitis, Cataract, Eczematoid dermatitis, Conjunctiviti... |
OMIM:603165 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Microcephaly, Cerebral atrophy, Agenesis of corpus callosum |
OMIM:274270 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly |
OMIM:615397 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcephaly, Microphthalmia |
ORPHA:2528 |
| Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Recurrent pneumonia, Abnormal male external genitalia ... |
OMIM:301101 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Short stature, Megaloblastic anemia, Neutropenia, Growth delay |
OMIM:250940 |
| Hoyeraal-Hreidarsson Syndrome |
|
Bone marrow hypocellularity, Generalized hypopigmentation of hair, Premature graying of hair, Int... |
ORPHA:3322 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Ptosis, Thrombocytopenia, Anemia |
OMIM:610539 |
| Hypotrichosis 8 |
|
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... |
OMIM:278150 |
| Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Microphthalmia, Absent septum pellucidum, Metatarsus ... |
ORPHA:899 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Inflammation of the large intestine, Recurrent pneumonia, Cervica... |
OMIM:617718 |
| Cofs Syndrome |
|
Cerebral cortical atrophy, Camptodactyly of finger, Cerebral calcification, Microcephaly, Aplasia... |
ORPHA:1466 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Oligodactyly, Aniridia, Absent hand, Split hand |
ORPHA:2440 |
| Partial Chromosome Y Deletion |
|
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
| Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism, Leukopenia, Abnormal platelet aggregation, Thrombo... |
OMIM:614171 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Ptosis, Dysphagia, Growth delay |
OMIM:613561 |
| Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy, Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer... |
OMIM:600462 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Thrombocytopenia |
OMIM:166990 |
| 17Q12 Microduplication Syndrome |
|
Cortical dysplasia, Toe syndactyly, Finger syndactyly, Microphthalmia |
ORPHA:261272 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... |
ORPHA:895 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... |
OMIM:203200 |
| Cronkhite-Canada Syndrome |
|
Cataract, Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Anorexi... |
ORPHA:2930 |
| H Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Psoriasiform dermatitis, Micropenis, Histiocytosis, Alopec... |
ORPHA:168569 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Highly arched eyebrow, Short palpebral fissure, Eczematoid dermatitis, Bilateral ptosis, Upslante... |
ORPHA:352490 |
| Tumoral Calcinosis, Normophosphatemic, Familial |
|
Conjunctivitis, Decreased circulating parathyroid hormone level |
OMIM:610455 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia, Aggressive behavior, Hyperactivity, Short stature, Premature ovarian insufficiency, ... |
ORPHA:391307 |
| Hypomelanosis Of Ito |
|
Radial deviation of finger, Clinodactyly, Cerebral atrophy, Microcephaly, Hand polydactyly, Macro... |
OMIM:300337 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate |
ORPHA:2736 |
| Transketolase Deficiency |
|
Self-injurious behavior, Cataract, Type I diabetes mellitus, Proportionate short stature, Attenti... |
ORPHA:488618 |
| Trisomy 1Q |
|
Toe syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Anophthalmia, Agenesis of cor... |
ORPHA:261344 |
| Adams-Oliver Syndrome 3 |
|
Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Microcephaly, Short metatarsal... |
OMIM:614814 |
| Proximal Symphalangism |
|
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... |
ORPHA:3250 |
| Pelvis-Shoulder Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Short... |
OMIM:169550 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Skin rash, Epicanthus, Megaloblastic anemia, Short stature, Neutropenia, Thrombocyt... |
OMIM:277380 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Downslanted palpebral fissures, Recurrent otitis media, Thick eyebrow, Long palpebral ... |
OMIM:602562 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Short stature, Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias |
ORPHA:1355 |
| Autism, Susceptibility To, X-Linked 3 |
|
Increased serum serotonin, Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Increased serum serotonin, Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300425 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... |
OMIM:611377 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis |
OMIM:237800 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Self-injurious behavior, Short palpebral fissure, Small nail, Downslanted palpebral fissures, Rec... |
ORPHA:261323 |
| Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Uveitis, Erysipelas, Fasciitis, Leukocytosis, Skin rash, Splenomegaly, Orchitis, Myositis, Perito... |
ORPHA:32960 |
| Microphthalmia/Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Sandal gap, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Pulmona... |
OMIM:300887 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Short stature, Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Bruxism, Hirsutism, Epicanthus, Hyperactivity, Short stature |
OMIM:300434 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Microcephaly, Broad palm, Spina bifida, Macrocephaly |
OMIM:620439 |
| Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Microphthalmia |
OMIM:600251 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Genital ulcers, Lymphopenia, Skin rash, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uve... |
OMIM:616744 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
| Lig4 Syndrome |
|
Pancytopenia, Psoriasiform dermatitis, Type II diabetes mellitus, Upslanted palpebral fissure, As... |
OMIM:606593 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Arthritis, Thrombocytosis, Sterile abscess, ... |
OMIM:604416 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... |
ORPHA:2378 |
| Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
| Isolated Agammaglobulinemia |
|
Pneumonia, Abnormal lymphocyte morphology, Otitis media, Skin rash, Anemia, Arthritis, Sinusitis,... |
ORPHA:229717 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate |
OMIM:606713 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Smith-Magenis syndrome |
|
Short stature, Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Elbow disloc... |
ORPHA:1106 |
| Felty Syndrome |
|
Bone marrow hypocellularity, Recurrent pneumonia, Irregular hyperpigmentation, Abnormal lymphocyt... |
ORPHA:47612 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Clinodactyly, Hypoplasia of the corpus callosum, Microcephaly, Cerebral white matter hypoplasia, ... |
OMIM:619091 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Occipital cortical atrophy, Anophthalmia, Hypoplasia of the pons, Hypoplasia of the corpus callosum |
ORPHA:411986 |
| Lipoma Of The Conjunctiva |
|
Conjunctival lipoma |
OMIM:151700 |
| Autism |
|
Increased serum serotonin, Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Increased serum serotonin, Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:607373 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Growth delay, Downslanted palpebral fissures, Hypogonadism, Gonadal dysgenesi... |
ORPHA:3306 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia, Growth delay |
ORPHA:169079 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Intrauterine growth retardation, Reticulocytosis, Macrocytic ... |
ORPHA:71275 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Bifid uvula, Cleft palate, Submucous cleft hard palate |
ORPHA:2521 |
| Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Fountain Syndrome |
|
Short distal phalanx of finger, Coarse metaphyseal trabecularization, Macrocephaly, Abnormal meta... |
ORPHA:3219 |
| Agammaglobulinemia, X-Linked |
|
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Lymph node hypoplasia, Rec... |
OMIM:300755 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Eczematoid dermatitis, Hypertrichosis, Microcytic anemia, Abnormality of skin pigmentat... |
OMIM:612379 |
| Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Rhizomelia, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Ane... |
OMIM:618116 |
| Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Cerebral atrophy, Overlapping toe, Hypoplasia of the corpus callosu... |
OMIM:600118 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypospadias, Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, R... |
OMIM:613673 |
| Acatalasemia |
|
Type I diabetes mellitus, Microcytic anemia, Vitiligo, Type II diabetes mellitus, Severe periodon... |
ORPHA:926 |
| Aicardi-Goutieres Syndrome 6 |
|
Intrauterine growth retardation, Splenomegaly, Chilblains, Thrombocytopenia, Hemolytic anemia |
OMIM:615010 |
| Adult Syndrome |
|
Absent nipple, Fair hair, Eczematoid dermatitis, Breast hypoplasia, Alopecia of scalp, Sparse axi... |
OMIM:103285 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... |
ORPHA:2919 |
| Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:256710 |
| Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
| Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
| Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Eczematoid dermatitis, Psoriasiform dermatitis, Impaired ADP-induced platelet aggregati... |
OMIM:617443 |
| Leukonychia Totalis |
|
Abnormal eyelash morphology, Blepharitis |
ORPHA:2387 |
| Isochromosomy Yp |
|
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... |
ORPHA:98797 |
| Srd5A3-Cdg |
|
Cataract, Spotty hyperpigmentation, Hypertrichosis, Microcytic anemia, Decreased response to grow... |
ORPHA:324737 |
| Microphthalmia/Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Oculocutaneous Albinism Type 3 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... |
ORPHA:79433 |
| Trichothiodystrophy 1, Photosensitive |
|
Cataract, Microcornea, Small nail, Fine hair, Hypogonadism, Trichorrhexis nodosa, Tiger tail band... |
OMIM:601675 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Recurrent pneumonia, Hypertrichosis, Microcytic anemia, Downslanted palpebral fissures, Hepatospl... |
OMIM:619750 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615982 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells, Short sta... |
OMIM:607616 |
| Woolly Hair Nevus |
|
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... |
ORPHA:79414 |
| Hemochromatosis, Type 2B |
|
Hypogonadism, Splenomegaly, Hyperpigmentation of the skin, Anemia, Secondary amenorrhea |
OMIM:613313 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Fanconi Anemia, Complementation Group J |
|
Short thumb, Microphthalmia |
OMIM:609054 |
| Fanconi Anemia, Complementation Group R |
|
Absent thumb, Radial dysplasia, Microcephaly, Hydrocephalus, Microphthalmia, Tethered cord |
OMIM:617244 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Rhizomelia, Anophthalmia, 2-3 toe syndactyly, Macrocephaly, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia |
OMIM:133180 |
| Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
| Isochromosomy Yq |
|
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... |
ORPHA:98798 |
| Congenital Rubella Syndrome |
|
Cataract, Type I diabetes mellitus, Intrauterine growth retardation, Abnormality of retinal pigme... |
ORPHA:290 |
| Curry-Jones Syndrome |
|
Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot polydactyly, Polymicrog... |
OMIM:601707 |
| Recon Progeroid Syndrome |
|
Red eye, Growth delay, Hyperconvex thumb nails, Hirsutism, Keratoconjunctivitis sicca, Thrombocyt... |
OMIM:620370 |
| Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Aminopterin Syndrome Sine Aminopterin |
|
Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Arachnodactyly, Micro... |
OMIM:600325 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia |
OMIM:619689 |
| 2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Highly arched eyebrow, Growth delay, Cryptorchidism, Generalized hirsuti... |
ORPHA:228402 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... |
ORPHA:2885 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatosp... |
ORPHA:231222 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Type I diabetes mellitus, Premature graying of hair, Lymphopenia, Nail dystrophy, Cryptorchidism,... |
OMIM:620365 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Joubert Syndrome 40 |
|
Postaxial polydactyly, Optic nerve hypoplasia |
OMIM:619582 |
| Solitary Median Maxillary Central Incisor |
|
Microcephaly, Holoprosencephaly, Anophthalmia, Microphthalmia |
OMIM:147250 |
| Forsythe-Wakeling Syndrome |
|
Short stature, Growth delay, Thrombocytopenia |
OMIM:613606 |
| Heme Oxygenase 1 Deficiency |
|
Nephritis, Growth delay, Cervical lymphadenopathy, Chemosis, Coombs-positive hemolytic anemia, Ly... |
OMIM:614034 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Xq25 Microduplication Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Epicanthus, Hyperactivity, Short stature, Abnormality of t... |
ORPHA:521258 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... |
ORPHA:1350 |
| Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... |
OMIM:617927 |
| Hemochromatosis, Type 4 |
|
Cataract, Hyperpigmentation of the skin, Osteoarthritis, Anemia, Impotence, Diabetes mellitus |
OMIM:606069 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Pachygyria, Simplified gyr... |
OMIM:251270 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Reticulocytosis, Anorexia, Short stature, Decreased mean corpuscular volume, ... |
OMIM:611590 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:615285 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
| Neu-Laxova Syndrome 2 |
|
Toe syndactyly, Finger syndactyly, Cerebellar hypoplasia, Microcephaly, Spina bifida, Rocker bott... |
OMIM:616038 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Downslanted palpebral fissures, E... |
OMIM:105650 |
| Sea-Blue Histiocyte Disease |
|
Absent axillary hair, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608631 |
| Fetal Parvovirus Syndrome |
|
Anemia, Intrauterine growth retardation, Thrombocytopenia |
ORPHA:295 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Menorrhagia, Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| Stevens-Johnson Syndrome |
|
Entropion, Pancreatitis, Dyspareunia, Thrombocytopenia, Anemia, Conjunctivitis, Abnormality of ne... |
ORPHA:36426 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Leukopenia, Attenuation of retinal blood vessels, Elliptocytosis, Anisocytosis, Bone spicule pigm... |
OMIM:616959 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Cholelithiasis, Cholecystitis, Macrocytic anemia, Splenomegaly, Hemolytic anem... |
OMIM:615512 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Premature graying of hair, Recurrent otitis media, Microcytic anemia, Erythema nodosum, Epididymi... |
OMIM:256040 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Leukoencephalopathy, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Hypoplasia of... |
OMIM:615181 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Split hand, Split foot |
DECIPHER:46 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
| Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Postaxial hand p... |
OMIM:607361 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal hair morphology, Cryptorchidism, Abnormal nasolacrimal system morphology, Scleritis, Abs... |
ORPHA:2273 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... |
ORPHA:2141 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Inflexible adherence to routines, Downslanted palpebral fissures, Aggres... |
OMIM:613670 |
| Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
| Cleft Velum |
|
Cleft soft palate, Velopharyngeal insufficiency |
ORPHA:99772 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Inflammatory abnormality of the skin, Oral-pharyngeal dysphagia, Neutropenia, Anorexia, Corneal e... |
ORPHA:95455 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Syringomyelia, Hydrocephalus,... |
OMIM:207950 |
| Ataxia-Telangiectasia |
|
Aplasia/Hypoplasia of the thymus, Premature graying of hair, Lymphopenia, Type II diabetes mellit... |
ORPHA:100 |
| Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Ectropion, Conjunctivitis, Dysphagia |
ORPHA:411777 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Short stature, Hypergonadotropic hypogon... |
OMIM:227650 |
| Kindler Epidermolysis Bullosa |
|
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Phimosis, Abnormal to... |
ORPHA:2908 |
| Chediak-Higashi Syndrome |
|
Iris hypopigmentation, Silver-gray hair, Hypopigmentation of the skin, Periodontitis, Hemophagocy... |
OMIM:214500 |
| Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Conjunctival hyperemia, Epicanthus, Aggressive behavior |
OMIM:619548 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplastic iliac w... |
ORPHA:163966 |
| Coffin-Siris Syndrome 11 |
|
Bifid uvula, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, High palate, Wid... |
OMIM:618779 |
| Diaphragmatic Hernia 5, X-Linked |
|
Neonatal death |
OMIM:306950 |
| Cogan Syndrome |
|
Keratitis, Episcleritis, Leukocytosis, Scleritis, Anemia, Thrombocytosis, Inflammatory abnormalit... |
ORPHA:1467 |
| Xeroderma Pigmentosum, Variant Type |
|
Keratitis, Freckles in sun-exposed areas, Entropion, Ectropion, Conjunctivitis, Growth delay |
OMIM:278750 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Sparse pubic hair, Decreased serum testosterone con... |
ORPHA:52901 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Short stature, Hypopigmentation of the skin, Neutropenia |
OMIM:610798 |
| Pierpont Syndrome |
|
Abnormal cortical gyration, Short toe, Prominent fingertip pads, Short finger, Excessive wrinklin... |
ORPHA:487825 |
| Craniorachischisis |
|
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
| Shigellosis |
|
Pneumonia, Microangiopathic hemolytic anemia, Ulcerative colitis, Anorexia, Leukocytosis, Abscess... |
ORPHA:810 |
| Avian Influenza |
|
Pneumonia, Myelitis, Hepatitis, Lymphopenia, Leukopenia, Infectious encephalitis, Thrombocytopeni... |
ORPHA:454836 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Abnormally large globe, Polymicrogyria, Macrocephaly, Mitral regurgitation, Hypoplasia of the cor... |
OMIM:603387 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Cataract, Alopecia, Band keratopathy, Decreased serum estradiol, Insulin-resistant diabetes melli... |
ORPHA:2959 |
| Fanconi Anemia, Complementation Group C |
|
Bone marrow hypocellularity, Pancytopenia, Intrauterine growth retardation, Cryptorchidism, Epica... |
OMIM:227645 |
| Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Chilblains, Thrombocytopenia |
OMIM:610329 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hyperpigmented/hypopigmented macules, Fair hair, Hypoplastic fingernail, Upslanted palpebral fiss... |
ORPHA:280633 |
| Hermansky-Pudlak Syndrome 2 |
|
Recurrent pneumonia, Reduced natural killer cell count, Periodontitis, Fair hair, Enlarged platel... |
OMIM:608233 |
| Periventricular Nodular Heterotopia 1 |
|
Clinodactyly, Short finger, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebral he... |
OMIM:300049 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
| Hermansky-Pudlak Syndrome 5 |
|
Albinism, Ocular albinism, Impaired ADP-induced platelet aggregation, Metrorrhagia, Thrombocytope... |
OMIM:614074 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Type I diabetes mellitus, Hepatitis, Eczematoid dermatitis, Decreased FOXP3-expressing ... |
OMIM:304790 |
| Microphthalmia, Syndromic 13 |
|
Microcephaly, Microphthalmia |
OMIM:300915 |
| Trisomy 13 |
|
Abnormal pelvic girdle bone morphology, Ectrodactyly, Anophthalmia, Bilateral single transverse p... |
ORPHA:3378 |
| Chromosome Xq13 Duplication Syndrome |
|
Highly arched eyebrow, Short palpebral fissure, Sparse lateral eyebrow, Recurrent otitis media, I... |
OMIM:301069 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185000 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Albinism, Oculocutaneous, Type Vi |
|
Fair hair, Generalized hypopigmentation |
OMIM:113750 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation |
OMIM:601706 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... |
ORPHA:2585 |
| Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Developmental And Epileptic Encephalopathy 66 |
|
Downslanted palpebral fissures, Astigmatism, Cryptorchidism, Neutropenia, Anemia, Motor stereotyp... |
OMIM:618067 |
| Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Bone marrow hypocellularity, Aplastic anemia, Small nail, Pterygium, Pterygium of nails, Pancytop... |
OMIM:224230 |
| Joubert Syndrome 16 |
|
Encephalocele, Dandy-Walker malformation, Polydactyly |
OMIM:614465 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Short toe, Syndactyly |
OMIM:612581 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Cubitus valgus, Microcephaly, Microphthalmia, Camptodactyly, Thin corpus ... |
OMIM:619694 |
| Cornelia De Lange Syndrome |
|
Cryptorchidism, Generalized hirsutism, Low posterior hairline, Hypoplastic labia majora, Primary ... |
ORPHA:199 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:617787 |
| Congenital Toxoplasmosis |
|
Intrauterine growth retardation, Abnormality of retinal pigmentation, Lymphadenopathy, Thrombocyt... |
ORPHA:858 |
| Fatco Syndrome |
|
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... |
ORPHA:2492 |
| Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Recurrent otitis media, Hirsutism, Absent neutrophil specific granules, Nail... |
OMIM:617475 |
| Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca... |
OMIM:613153 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Abnormal number of dense granules, Impaired platelet aggregation, A... |
OMIM:614072 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... |
ORPHA:86839 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Toxic Epidermal Necrolysis |
|
Polydipsia, Abnormal vagina morphology, Entropion, Pancreatitis, Neutropenia, Thrombocytopenia, A... |
ORPHA:537 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:277410 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Vitiligo, Follicular hyperplas... |
OMIM:619846 |
| Transcobalamin Ii Deficiency |
|
Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Anemia |
OMIM:275350 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
| Phenylketonuria |
|
Cataract, Fair hair, Eczematoid dermatitis, Self-mutilation, Aggressive behavior, Attention defic... |
OMIM:261600 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... |
OMIM:155100 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Mac... |
ORPHA:3210 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
| Moebius Syndrome |
|
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... |
OMIM:157900 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Bone marrow hypocellularity, Hypertrichosis, Long eyelashes, Telecanthus, Hepatosplenomegaly, Abn... |
ORPHA:505248 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Hemochromatosis, Type 2A |
|
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Hyperpigmentation of the sk... |
OMIM:602390 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft upper lip, Cleft palate |
OMIM:179400 |
| Adams-Oliver Syndrome 2 |
|
Cerebral atrophy, Polymicrogyria, Absent distal phalanges, Single transverse palmar crease, Cereb... |
OMIM:614219 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia, Postaxial hand polydactyly |
ORPHA:66625 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Corneal neovascularization, Autoimmune hemolytic anemia, Splenomegaly, Punctat... |
OMIM:617388 |
| Laurin-Sandrow Syndrome |
|
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... |
OMIM:135750 |
| Familial Cold Urticaria |
|
Conjunctivitis, Polydipsia, Arthritis |
ORPHA:47045 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent pneumonia, Alopecia, Autoimmune hemolytic anemia, Recurrent sinusit... |
OMIM:616576 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence |
OMIM:192445 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,... |
OMIM:616860 |
| Gordon Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger |
ORPHA:376 |
| Pierpont Syndrome |
|
Short toe, Prominent fingertip pads, Short finger, Microcephaly, Deep palmar crease, Broad palm, ... |
OMIM:602342 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Iris hypopigmentation, Cataract, Hypochromic anemia, White hair, Ocular albinism, Generalized hyp... |
ORPHA:2720 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Alopecia, Band keratopathy, Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Prim... |
OMIM:269200 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Hyperinsulin... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Hyperinsulin... |
ORPHA:71526 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Holoprosencephaly |
ORPHA:77298 |
| Diamond-Blackfan Anemia 10 |
|
Growth delay, Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia, Short stature |
OMIM:613309 |
| Nijmegen Breakage Syndrome |
|
Recurrent pneumonia, Progressive vitiligo, Retinal pigment epithelial mottling, Recurrent otitis ... |
OMIM:251260 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Hypopigmentation of the skin, Keratitis, Entropion, Freckling, Ectropion, Conjunctivitis |
OMIM:278720 |
| Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Agenesis of corpus cal... |
ORPHA:93267 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Umbilical hernia, Joint contracture of the 5th finger, Joint contracture of the 4th f... |
OMIM:618914 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
| Leishmaniasis |
|
Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Thromboc... |
ORPHA:507 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... |
OMIM:620084 |
| Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... |
OMIM:619585 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent sinusitis, Lymphadenopathy, Thrombo... |
OMIM:613101 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Broad hallux, Umbilical hernia, Elbow flexion contracture, Long hallux, Arachnodactyly, Diffuse c... |
OMIM:613776 |
| Nail-Patella Syndrome |
|
Triceps aplasia, Elongated radius, Patellar hypoplasia, Hypoplastic radial head, Biceps aplasia, ... |
OMIM:161200 |
| Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... |
ORPHA:199306 |
| Dyskeratosis Congenita, Digenic |
|
Alopecia, Bilateral ptosis, Decreased testicular size, Intrauterine growth retardation, Nail dyst... |
OMIM:620040 |
| Gaucher Disease Type 1 |
|
Splenic infarction, Cholelithiasis, Growth delay, Anorexia, Hepatosplenomegaly, Pancytopenia, Hyp... |
ORPHA:77259 |
| Nephronophthisis 15 |
|
Cerebellar vermis hypoplasia, Polydactyly |
OMIM:614845 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Microcornea, Fine hair, Abnormal fingernail morphology, Keratoconjunctivitis sicca, Abn... |
ORPHA:1806 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Cryptorchidism, Anemia, Hyperpigmentation of the skin, Reticulocytopenia, Short sta... |
OMIM:600901 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia |
OMIM:206100 |
| Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis |
OMIM:224100 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract, Thrombocytopenia |
ORPHA:67048 |
| Smith-Kingsmore Syndrome |
|
Rhizomelia, Downslanted palpebral fissures, Cryptorchidism, Thrombocytopenia, Curly hair, Cafe-au... |
OMIM:616638 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... |
ORPHA:3329 |
| Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... |
OMIM:246570 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... |
OMIM:616738 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Corneal arcus, Normochromic anemia |
OMIM:245900 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Alopecia, Erythroderma, Short stature, Conjunctivitis, Sparse hair, Fragile nails |
OMIM:242150 |
| Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... |
ORPHA:79477 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypogonadism, Congenital bilateral ptosis, Postnatal growth retardation, Intrauterine growth reta... |
ORPHA:73272 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
| Mixed Connective Tissue Disease |
|
Alopecia, Mediastinal lymphadenopathy, Leukopenia, Skin rash, Splenomegaly, Myositis, Gastritis, ... |
ORPHA:809 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia |
OMIM:600546 |
| Camptobrachydactyly |
|
Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy... |
ORPHA:1319 |
| Spermatogenic Failure 39 |
|
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... |
OMIM:618643 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Thin eyebrow, Motor stereotypy, Low anterior hairline |
OMIM:619690 |
| Grange Syndrome |
|
Aortic regurgitation, Hypertension, Short palm, Syndactyly |
ORPHA:79094 |
| Mannosidosis, Beta A, Lysosomal |
|
Tortuosity of conjunctival vessels, Aggressive behavior, Hyperactivity |
OMIM:248510 |
| Hermansky-Pudlak Syndrome 11 |
|
Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Iris tr... |
OMIM:619172 |
| Pancreatic Colipase Deficiency |
|
Cholelithiasis, Megaloblastic anemia |
ORPHA:309108 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Growth delay, Intrauterine growth retardation, Skin rash, Megaloblastic anemia, Neutropenia, Stom... |
ORPHA:79284 |
| Waardenburg Syndrome, Type 4A |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:277580 |
| Hypohidrotic Ectodermal Dysplasia |
|
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Eczematoid dermatitis, Breast ... |
ORPHA:238468 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Growth delay, Intrauterine growth retardation, Splenomegaly, Epican... |
OMIM:618541 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Low posterior hairline, Epicanthu... |
OMIM:611881 |
| Hatipoglu Immunodeficiency Syndrome |
|
Hyperpigmented/hypopigmented macules, Atopic dermatitis, Eczematoid dermatitis, Fair hair, Downsl... |
OMIM:620331 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
| Hypertrichosis Lanuginosa Congenita |
|
Generalized hirsutism, Thick eyebrow, Abnormality of skin pigmentation |
ORPHA:2222 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Slender long bone, Flared metaphysis, Camptodactyly of finger, Elbow flexion contracture, Polymic... |
OMIM:610758 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
| Stuve-Wiedemann Syndrome 2 |
|
Intrauterine growth retardation, Dysphagia, Eczematoid dermatitis, Thrombocytopenia |
OMIM:619751 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Pancytopenia, Leukopenia... |
OMIM:613989 |
| Focal Dermal Hypoplasia |
|
Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph... |
ORPHA:2092 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... |
ORPHA:33445 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Clinodactyly, Macrocephaly, Genu valgum, Hypoplasia of the corpus callosum,... |
OMIM:607131 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Aggressive behavior, Hyperactivity, Short stature, Motor stereotypy, Synophrys |
OMIM:615541 |
| Schimke Immunoosseous Dysplasia |
|
Coarse hair, Elevated circulating thyroid-stimulating hormone concentration, Hypermelanotic macul... |
OMIM:242900 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca... |
OMIM:615249 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ... |
ORPHA:2633 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Aplastic clavicle, Abnormal cortical gyration, Elbow dislocation, Short thumb, Ectrodactyly, Olig... |
ORPHA:2538 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... |
OMIM:274000 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Increased serum serotonin, Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608636 |
| Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Shor... |
OMIM:616435 |
| Idiopathic Trachyonychia |
|
Atopic dermatitis, Toenail dysplasia, Fingernail dysplasia, Vitiligo, Ridged nail, Nail dystrophy... |
ORPHA:79153 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Impotence, Dysphagia, Thrombocytopenia |
OMIM:615750 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Short 5th finger, Broad thumb, Broad hallux, Preaxial hand polydactyly, Ove... |
ORPHA:508498 |
| Mosaic Trisomy 9 |
|
Elbow dislocation, Finger clinodactyly, Camptodactyly of finger, Micromelia, Talipes equinovarus,... |
ORPHA:99776 |
| Waardenburg-Shah Syndrome |
|
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... |
ORPHA:897 |
| Wilson Disease |
|
Hepatitis, Kayser-Fleischer ring, Abnormality of the menstrual cycle, Splenomegaly, Aggressive be... |
ORPHA:905 |
| Omenn Syndrome |
|
Pneumonia, Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, ... |
OMIM:603554 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Trident pelvis, Agenesis of corpus callosum, Bowing of the long bones, T... |
OMIM:614815 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Bone marrow hypocellularity, Microphallus, Decreased response to growth hormone stimul... |
OMIM:603467 |
| Meckel Syndrome |
|
Postaxial foot polydactyly, Aplasia/Hypoplasia of the corpus callosum, Preaxial hand polydactyly,... |
ORPHA:564 |
| Hemochromatosis, Type 1 |
|
Alopecia, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Hyperpigmentation... |
OMIM:235200 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Menorrhagia, Thrombocytopenia |
OMIM:616913 |
| Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Short distal phalanx of the thumb, Calcification of falx cerebri, Microphthalmia, Po... |
OMIM:109400 |
| Von Willebrand Disease, Type 2 |
|
Menorrhagia, Thrombocytopenia |
OMIM:613554 |
| Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
| Monosomy 5P |
|
Microcephaly, Small hand, Finger syndactyly |
ORPHA:281 |
| De Sanctis-Cacchione Syndrome |
|
Severe short stature, Keratitis, Bilateral cryptorchidism, Entropion, Gonadal hypoplasia, Ectropi... |
OMIM:278800 |
| Sclerosteosis |
|
Curved distal phalanges of the hand, Finger syndactyly, Diaphyseal undertubulation, 2-3 finger sy... |
ORPHA:3152 |
| Acute Promyelocytic Leukemia |
|
Anorexia, Pancytopenia, Leukopenia, Leukocytosis, Metrorrhagia, Addictive alcohol use, Lymphadeno... |
ORPHA:520 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... |
ORPHA:98793 |
| Babesiosis |
|
Leukopenia, Splenomegaly, Thrombocytopenia, Anorexia, Hemolytic anemia |
ORPHA:108 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Classic Galactosemia |
|
Cataract, Cryptorchidism, Attention deficit hyperactivity disorder, Abnormal erythrocyte enzyme c... |
ORPHA:79239 |
| Cerebrooculonasal Syndrome |
|
Cerebellar vermis hypoplasia, Anophthalmia, Hypoplasia of the corpus callosum, Encephalocele, Pos... |
OMIM:605627 |
| Bardet-Biedl Syndrome 9 |
|
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... |
OMIM:615986 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... |
ORPHA:98754 |
| Mirage Syndrome |
|
Hypospadias, Microphallus, Aspiration pneumonia, Lymphopenia, Leukopenia, Decreased testicular si... |
OMIM:617053 |
| Nasolacrimal Duct Cyst |
|
Red eye, Chronic irritative conjunctivitis, Dacryocystocele, Corneal astigmatism, Narrow palpebra... |
ORPHA:141083 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Small scrotum, Absence of pubertal development, Type II diabetes mellitus, ... |
ORPHA:398079 |
| Fanconi Anemia, Complementation Group D2 |
|
Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Cryptorchidism, Anemia, Reticulocyto... |
OMIM:227646 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Conjunctival icterus, Increased mean corpuscular hemoglobin concentration, Hepati... |
OMIM:194380 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... |
OMIM:617102 |
| Caudal Duplication |
|
Myelomeningocele, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Gand Syndrome |
|
Inappropriate laughter, Blepharophimosis, Narrow palpebral fissure, Hyperactivity, Tics, Sparse hair |
OMIM:615074 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Cataract, Recurrent pneumonia, Sparse hair, Alopecia, Chronic mucocutaneous candidiasi... |
OMIM:158310 |
| Lacrimal Duct Defect |
|
Lacrimal duct atresia, Dacryocystocele, Sinusitis, Conjunctivitis, Dacryocystitis |
OMIM:149700 |
| Dubowitz Syndrome |
|
Abnormal female external genitalia morphology, Postnatal growth retardation, Cryptorchidism, Epic... |
ORPHA:235 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Sh... |
OMIM:113000 |
| Noonan Syndrome 4 |
|
Sparse eyebrow, High anterior hairline, Bilateral ptosis, Downslanted palpebral fissures, Cryptor... |
OMIM:610733 |
| Chromosome Xq25 Duplication Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Thick eyebrow, Epicanthus, Hyperactivity, Short stature |
OMIM:300979 |
| Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Gastrointestinal hemorrhage, Finger syndactyly, Absent hand, Port... |
ORPHA:974 |
| Fanconi Anemia, Complementation Group P |
|
Short palpebral fissure, Growth delay, Pancytopenia, Vitiligo, Cryptorchidism, Short stature, Ble... |
OMIM:613951 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... |
ORPHA:177904 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Cataract, Alopecia, Atrichia, Decreased testicular size, External genital hypoplasia, ... |
ORPHA:1867 |
| Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
| Meckel Syndrome, Type 10 |
|
Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Cerebellar hypoplasia... |
OMIM:614175 |
| Leukocyte Adhesion Deficiency |
|
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... |
ORPHA:2968 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
| Joubert Syndrome 14 |
|
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Encepha... |
OMIM:614424 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anorexia, Splenomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:79312 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... |
OMIM:619802 |
| Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Episodic hemolytic anemia, Schistocytosis, Hypersegmentat... |
OMIM:601775 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... |
ORPHA:177901 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
| Prolidase Deficiency |
|
Recurrent pneumonia, Eczematoid dermatitis, Facial hirsutism, Splenomegaly, Crusting erythematous... |
OMIM:170100 |
| Cousin Syndrome |
|
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis... |
OMIM:260660 |
| Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Pancytopenia, Skin rash, Splenomegaly, Enterocolitis, Thromboc... |
OMIM:616050 |
| Roifman Syndrome |
|
Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Recurrent otitis media, Postnata... |
ORPHA:353298 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Atopic dermatitis, Parotitis, Hepatosplenomegaly, Intrauterine growth retardation, Leukocytosis, ... |
OMIM:620376 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Erysipelas, Cervical lymphadenopathy, Skin rash, Myositis, Conjunctival hyperemia, Oligoarthritis... |
OMIM:142680 |
| Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Lip pit, Non-midline cleft of the upper lip, Cleft palate |
ORPHA:1072 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
| Terminal Osseous Dysplasia |
|
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Cam... |
OMIM:300244 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
| Camptobrachydactyly |
|
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly |
OMIM:114150 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Postnatal growth retardation, Adrenal insufficiency, Intrauter... |
OMIM:609981 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Spina bifida |
ORPHA:2345 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephritis, Malar rash, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Spleno... |
OMIM:603909 |
| Sengers Syndrome |
|
Cataract, Thrombocytopenia, Developmental cataract, Premature ovarian insufficiency, Growth delay |
OMIM:212350 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Aplasia/Hypoplasia of... |
ORPHA:1926 |
| 14Q22Q23 Microdeletion Syndrome |
|
Toe syndactyly, Finger syndactyly, Optic nerve aplasia, Short 5th metacarpal, Bilateral single tr... |
ORPHA:264200 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Recurrent pneumonia, Long eyelashes, Thick eyebrow, Crypto... |
OMIM:619293 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
| Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Short palpebral fissure, Growth delay, Telecanthus, Gener... |
ORPHA:3339 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Hypochromic anemia, Ptosis, Microcytic anemia |
OMIM:618451 |
| Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation |
ORPHA:315 |
| Abcd Syndrome |
|
Albinism, Polycythemia, White eyebrow, White eyelashes |
OMIM:600501 |
| Microcephaly-Micromelia Syndrome |
|
Absent thumb, Short tibia, Micromelia, Aplasia/Hypoplasia of the corpus callosum, Oligodactyly, H... |
OMIM:251230 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Clinodactyly, Mitral regurgitation, Brachydactyly, Osteolysis involvi... |
ORPHA:88630 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia, Hypertrichosis |
ORPHA:1063 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Congenital hypothyroidism, Intrauterine growth retardation, Cryptorchidism, Blue iride... |
OMIM:614613 |
| Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia, Membranoproliferative glomerulonephritis |
OMIM:615008 |
| Kearns-Sayre Syndrome |
|
Pigmentary retinopathy, Sideroblastic anemia, Primary adrenal insufficiency, Ptosis, Short statur... |
OMIM:530000 |
| Immunodeficiency 32B |
|
Pneumonia, Impaired oxidative burst, Splenomegaly, Sinusitis, Eosinophilia, Monocytopenia, Thromb... |
OMIM:226990 |
| Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Myelomeningocele, Cerebral calcification, Microcephaly, Spina bifida, Meningocel... |
ORPHA:1393 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Cerebral atrophy, Postaxial polydactyly,... |
OMIM:258860 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
| Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Decrea... |
ORPHA:95513 |
| Bernard-Soulier Syndrome |
|
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... |
OMIM:231200 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Eczematoid dermatitis, Thrombocytopenia |
OMIM:614493 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
| Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... |
OMIM:601859 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Self-injurious behavior, Persistence of hemoglobin F, Downslanted palpebral fissures, Recurrent h... |
OMIM:617101 |
| 48,Xxyy Syndrome |
|
Decreased testicular size, Azoospermia, Type II diabetes mellitus, Upslanted palpebral fissure, C... |
ORPHA:10 |
| Trisomy 18 |
|
Deviation of finger, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Abnormal... |
ORPHA:3380 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Ulnar deviation of finger, Camptodactyly of finger, Tricuspid regurgitation, Umbilical hernia, An... |
ORPHA:1101 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Inappropriate laughter, Polyphagia, Hyperact... |
ORPHA:411515 |
| Hermansky-Pudlak Syndrome 4 |
|
Albinism, Menorrhagia, Absent platelet dense granules, Ocular albinism |
OMIM:614073 |
| Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Highly arched eyebrow, Eczematoid dermatitis, Upslanted palpebral fissur... |
OMIM:600430 |
| Thrombocytopenia 9 |
|
Abnormal platelet aggregation, Thrombocytopenia, Decreased circulating thrombopoietin concentration |
OMIM:620478 |
| Biotinidase Deficiency |
|
Alopecia, Skin rash, Splenomegaly, Seborrheic dermatitis, Conjunctivitis, Recurrent skin infections |
OMIM:253260 |
| Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
| 3-Methylglutaconic Aciduria, Type V |
|
Normochromic microcytic anemia, Postnatal growth retardation, Decreased testicular size, Intraute... |
OMIM:610198 |
| Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:613011 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Recurrent hand flapping, Motor stereotypy, Dysphagia, Short stature |
OMIM:617862 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Symphalangism affecting the phalanges of the hand, Camptodactyly of finger |
ORPHA:2547 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Toe syndactyly, Finger syndactyly, Polymicrogyria, Cerebral ischemia, Arrhythmia, Telangiectasia ... |
ORPHA:60040 |
| Iniencephaly |
|
Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Syringomyelia, Talipes equinovaru... |
ORPHA:63259 |
| Pediatric-Onset Graves Disease |
|
Keratitis, Graves disease, Polydipsia, Goiter, Puberty and gonadal disorders, Intrauterine growth... |
ORPHA:525731 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg... |
ORPHA:824 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Male infertility, Oligozoospermia |
OMIM:258150 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... |
OMIM:235700 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Microcephaly, Rocker bottom foot, Camptodactyly of finger |
OMIM:610756 |
| Imerslund-Grasbeck Syndrome 2 |
|
Anemia, Megaloblastic anemia, Growth delay |
OMIM:618882 |
| Albinism, Ocular, With Late-Onset Sensorineural Deafness |
|
Albinism, Giant melanosomes in melanocytes |
OMIM:300650 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Aggressive behavior, Motor stereotypy, Agitation |
OMIM:617171 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Acute Radiation Syndrome |
|
Cataract, Inflammatory abnormality of the skin, Hypopigmentation of the skin, Lymphopenia, Inters... |
ORPHA:454831 |
| Bresek Syndrome |
|
Microcephaly, Hydrocephalus, Microphthalmia, Postaxial hand polydactyly, Optic nerve hypoplasia |
ORPHA:85284 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Hypoplasia of the radius, Hydrocephalus, Microphthalmia, Spina bifida, Aqueductal s... |
ORPHA:3412 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Recurrent pneumonia, Downslanted palpebral fissures, Splenomegaly, Motor... |
OMIM:615637 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618709 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cerebral cortical atrophy, Hyperintensity of cerebral white matter on MRI, Finger joint contractu... |
ORPHA:48431 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, Small hand, Absent distal phalanges, 2-5 finger cutaneous syndactyly |
OMIM:619339 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... |
OMIM:150550 |
| Lassa Fever |
|
Menometrorrhagia, Conjunctivitis, Dysphagia |
ORPHA:99824 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Highly arched eyebrow, Short palpebral fissure, Long eyelashes, Intrauterine growth retardation, ... |
OMIM:619005 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Hyperpigmentation of the skin, Splenomegaly |
ORPHA:75563 |
| Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Eyelid coloboma, Anemia of inadequate production, Neutropenia, Short... |
OMIM:614900 |
| Orofaciodigital Syndrome Xix |
|
Carious teeth, Downturned corners of mouth, Cleft soft palate, Narrow mouth, Accessory oral frenu... |
OMIM:620107 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... |
OMIM:620135 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L... |
ORPHA:514 |
| Systemic Lupus Erythematosus |
|
Nephritis, Leukopenia, Malar rash, Lupus nephritis, Arthritis, Thrombocytopenia, Hemolytic anemia... |
OMIM:152700 |
| Thyrocerebrorenal Syndrome |
|
Nephritis, Euthyroid goiter, Thrombocytopenia |
ORPHA:3327 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Disproportionate short stature, Lymphopenia, Long eyelashes, Leukopenia, Neutropenia, Schistocyto... |
OMIM:301110 |
| Boomerang Dysplasia |
|
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... |
ORPHA:1263 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Microcytic anemia, Splenomegaly, Lymphadenopathy |
OMIM:618852 |
| Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Hypoplasia of the corpus callosum, Ag... |
OMIM:618142 |
| Stt3B-Cdg |
|
Small scrotum, Intrauterine growth retardation, Cryptorchidism, Thrombocytopenia, Micropenis |
ORPHA:370924 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Keratitis, Entropion, Ectropion, Conjunctivitis, Hypermelanotic macule |
OMIM:278700 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Microcephaly, Hypoplastic ischia, Polydactyly |
OMIM:616910 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Downslanted palpebral fissures, Telecanthus, Almond-shaped palpebral fissure, Epicanthus, Attenti... |
OMIM:620292 |
| Good Syndrome |
|
Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Ptosis, Dysphagia, Thro... |
ORPHA:169105 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Relative macrocephaly, Upper limb asymmetry, Polydactyly |
ORPHA:231140 |
| Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Skin rash, Autoimmune hemolyt... |
ORPHA:100026 |
| Braddock-Carey Syndrome 1 |
|
Downslanted palpebral fissures, Telecanthus, Thrombocytopenia, Curly hair, Sparse hair, Growth delay |
OMIM:619980 |
| Primary Sjögren Syndrome |
|
Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, L... |
ORPHA:289390 |
| Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... |
OMIM:258900 |
| Immunodeficiency 7 |
|
Recurrent otitis media, Vitiligo, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, P... |
OMIM:615387 |
| Temtamy Syndrome |
|
Aortic regurgitation, Microphthalmia, Agenesis of corpus callosum, Talipes equinovarus, Brachydac... |
OMIM:218340 |
| Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly, Spina bifida, Lissencephaly |
ORPHA:99742 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Aggressive behavior, Short stature, Pica, Motor stereotypy |
OMIM:617270 |
| Neu-Laxova Syndrome 1 |
|
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Agenesis of corpu... |
OMIM:256520 |
| Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test, Atopic dermatitis, Lymphopenia, Thrombocyt... |
OMIM:618624 |
| Charlie M Syndrome |
|
Finger syndactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Brachydactyly |
ORPHA:1406 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Motor stereotypy, Small nail, Hyperactivity |
OMIM:619470 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Small scrotum, Intrauterine growth retardation, Cryptorchidism, Thrombocytopenia, Micropenis |
OMIM:615597 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
| Lead Poisoning |
|
Decreased male libido, Imbalanced hemoglobin synthesis, Reduced sperm motility, Abnormality of th... |
ORPHA:330015 |
| Shukla-Vernon Syndrome |
|
Downslanted palpebral fissures, Aggressive behavior, Attention deficit hyperactivity disorder, Sp... |
OMIM:301029 |
| Pili Torti-Onychodysplasia Syndrome |
|
Alopecia universalis, Alopecia, Eczematoid dermatitis, Sparse body hair, Congenital onychodystrop... |
ORPHA:2890 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syringomyelia, Congenital bilateral hip dislocation, Cerebral cortical atrophy, Syndactyly |
ORPHA:404451 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Rectal abscess, Recurrent otitis media, Recurrent sinusitis, Neutropenia, B ... |
OMIM:601495 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, Growth delay |
ORPHA:289916 |
| Proteus-Like Syndrome |
|
Cataract, Irregular hyperpigmentation, Thymus hyperplasia, Abnormality of the parathyroid gland, ... |
ORPHA:2969 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Microcephaly, Brachydactyly, Macrocephaly |
ORPHA:313781 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Recurre... |
OMIM:301078 |
| Hamamy Syndrome |
|
Sparse eyebrow, Hypochromic anemia, Sparse lateral eyebrow, Neck pterygia, Microcytic anemia, Abn... |
OMIM:611174 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tibial deviation of the 2nd toe, Abnormally large globe, Clinodactyly of the 2nd finger, Radial d... |
ORPHA:363417 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of finger, Triphalangeal ... |
ORPHA:2251 |
| Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... |
ORPHA:79435 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Prostate c... |
ORPHA:158057 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Thrombocytopenia, Neutropenia, Growth delay, Normochromic anemia |
OMIM:614857 |
| Transaldolase Deficiency |
|
Anemia, Abnormal clitoris morphology, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:101028 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Ptosis, Corneal opacity, Hypopigmentation of ... |
ORPHA:1067 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Horizontal eyebrow, Chapped lip, Chronic monilial nail infection, Psoriasiform dermatitis, Pustul... |
ORPHA:294023 |
| Pseudohypoparathyroidism Type 1B |
|
Cataract, Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level... |
ORPHA:94089 |
| Vogt-Koyanagi-Harada Disease |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn... |
ORPHA:3437 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Cataract, Upslanted palpebral fissure, Epicanthus, Iron deficiency anemia, Hypothyroidism, Short ... |
OMIM:607906 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Highly arched eyebrow, Downslanted palpebral fissures, Bruxism, Epicanthus, Attention deficit hyp... |
OMIM:618342 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Joint contracture of the hand, Elbow flexion contracture, Basal ganglia calcification, Second met... |
OMIM:214150 |
| Bardet-Biedl Syndrome 19 |
|
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Hypoplasia of the corpus callosum, Postax... |
OMIM:615996 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Short stature, Growth delay, Thrombocytopenia |
OMIM:614727 |
| Wiedemann-Steiner Syndrome |
|
Recurrent otitis media, Postnatal growth retardation, Cryptorchidism, Low posterior hairline, Epi... |
OMIM:605130 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy |
OMIM:606053 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
| Aggressive Systemic Mastocytosis |
|
Anorexia, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of ... |
ORPHA:98850 |
| Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Horizontal eyebrow, Long eyelashes, Telecanthus, Upslanted palpebral fissu... |
OMIM:620475 |
| Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Polydactyly |
OMIM:616490 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Sandestig-Stefanova Syndrome |
|
Clinodactyly, Bilateral single transverse palmar creases, Hypoplasia of the corpus callosum, Prim... |
OMIM:618804 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Increased serum estradiol, Primary amenorrhea, Ab... |
ORPHA:99429 |
| Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... |
ORPHA:2552 |
| Cri-Du-Chat Syndrome |
|
Cataract, Growth delay, Premature graying of hair, Downslanted palpebral fissures, Oppositional d... |
OMIM:123450 |
| Cat-Eye Syndrome |
|
Microphthalmia, Hip dysplasia |
ORPHA:195 |
| Focal Dermal Hypoplasia |
|
Toe syndactyly, Anophthalmia, Agenesis of corpus callosum, Telangiectasia, Microphthalmia, Foot p... |
OMIM:305600 |
| Myh9-Related Disease |
|
Nephritis, Giant platelets, Presenile cataracts, Congenital thrombocytopenia, Neutrophil inclusio... |
ORPHA:182050 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Intrauteri... |
OMIM:301310 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Nephritis, Recurrent pneumonia, Bone marrow hypocellularity, Coarse hair, Long eyelashes, Telecan... |
OMIM:617303 |
| Holoprosencephaly |
|
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Branchial anomaly, Anophthalmia, En... |
ORPHA:2162 |
| Schimke Immuno-Osseous Dysplasia |
|
Minimal change glomerulonephritis, Bone marrow hypocellularity, Growth delay, Abnormal proportion... |
ORPHA:1830 |
| Neuralgic Amyotrophy |
|
Upper limb amyotrophy, Scapular winging, Syndactyly |
ORPHA:2901 |
| Orofaciodigital Syndrome Xvii |
|
Clinodactyly, Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polyd... |
OMIM:617926 |
| Silver-Russell Syndrome 3 |
|
Postnatal growth retardation, Melanocytic nevus, Ambiguous genitalia, Penoscrotal hypospadias, An... |
OMIM:616489 |
| Mosaic Trisomy 1 |
|
Hand clenching, Toe syndactyly, Broad 2nd toe, Agenesis of corpus callosum, Arachnodactyly, 2-3 f... |
ORPHA:1692 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Microphtha... |
OMIM:614833 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Ptosis, Thrombocytopenia |
OMIM:188025 |
| Atransferrinemia |
|
Hypochromic anemia |
OMIM:209300 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Diffuse white matter abnormalities, Occipital encephalocele, Hypoplasia of the pons, Cardiomyopat... |
ORPHA:370959 |
| 3P25.3 Microdeletion Syndrome |
|
Broad thumb, Broad hallux, Overlapping toe, Postaxial polydactyly, Cerebral white matter atrophy,... |
ORPHA:435638 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Secondary microcephaly, Cerebellar hypoplasia, Microphthalmia |
OMIM:613730 |
| Lymphedema-Distichiasis Syndrome |
|
Cataract, Ectropion, Distichiasis, Ptosis, Tubulointerstitial nephritis, Conjunctivitis, Recurren... |
ORPHA:33001 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Clinodactyly, Narrow palm, Microcephaly, Holoprosencephaly, Syndactyly |
ORPHA:1445 |
| Transaldolase Deficiency |
|
Clitoral hypertrophy, Hepatosplenomegaly, Pancytopenia, Intrauterine growth retardation, Splenome... |
OMIM:606003 |
| Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Aniridia, Camptodactyly of toe, Microcephaly, Macrocephaly, Microphth... |
ORPHA:251038 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, Absence of pubertal development, Type II diabetes mellitus, Cryptorchidism, Polyph... |
ORPHA:398069 |
| Martsolf Syndrome 1 |
|
Broad femoral neck, Short toe, Cardiomyopathy, Congestive heart failure, Slender ulna, Avascular ... |
OMIM:212720 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... |
OMIM:308240 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Small nail, Downslanted palpebral fissures, Leukopenia, Telecanthus, Intrauterine growth retardat... |
OMIM:301056 |
| Diffuse Neonatal Hemangiomatosis |
|
Anemia, Abnormal vagina morphology, Thrombocytopenia |
ORPHA:2123 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Intrauterine growth retardation, Motor stereotypy |
OMIM:615282 |
| Classic Phenylketonuria |
|
Self-injurious behavior, Cataract, Hypopigmentation of the skin, Eczematoid dermatitis, Attention... |
ORPHA:79254 |
| Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Self-injurious behavior, Sparse eyebrow, Downslanted palpebral fissures, Epicanthus, Aggressive b... |
OMIM:620075 |
| Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Pfeiffer Syndrome Type 1 |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hallux varus, Sh... |
ORPHA:93258 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Polydactyly, Hydrocephalus, Macrocephaly, Agenesis of cerebellar vermis, Short... |
ORPHA:59315 |
| Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Recurrent otitis media, Decreased response to growth hormone stimulation test, Telecanthus, Upsla... |
OMIM:615286 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... |
OMIM:619696 |
| Sheehan Syndrome |
|
Central adrenal insufficiency, Decreased serum estradiol, Sparse pubic hair, Breast hypoplasia, D... |
ORPHA:91355 |
| Aicardi-Goutieres Syndrome 4 |
|
Intrauterine growth retardation, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia |
OMIM:610333 |
| Prader-Willi Syndrome |
|
Premature adrenarche, Small scrotum, Periodontitis, Central adrenal insufficiency, Cryptorchidism... |
ORPHA:739 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Decreased libido, Splenomegaly, Hypogonadotropic hypo... |
ORPHA:465508 |
| Adenohypophysitis |
|
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... |
ORPHA:95512 |
| Myotonic Dystrophy 1 |
|
Cataract, Cholelithiasis, Frontal balding, Hypogonadism, Obsessive-compulsive trait, Testicular a... |
OMIM:160900 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
| Monosomy 18P |
|
Microcephaly, Brachydactyly, Microphthalmia, Holoprosencephaly, Hypertension |
ORPHA:1598 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Secondary microcephaly, Microphthalmia, Abnormality of the palmar creases |
OMIM:618652 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Microcephaly, Hypoplasia of the ulna, Absent radius, Microphthal... |
ORPHA:1352 |
| Fanconi Anemia |
|
Hypopigmented skin patches, Cryptorchidism, Epicanthus, Hypospadias, Decreased fertility in males... |
ORPHA:84 |
| Joubert Syndrome 7 |
|
Abnormal corpus callosum morphology, Hypoplasia of the brainstem, Genu valgum, Encephalocele, Pos... |
OMIM:611560 |
| Diamond-Blackfan Anemia 21 |
|
Coarse hair, Horizontal eyebrow, Downslanted palpebral fissures, Erythroid hypoplasia, Thrombocyt... |
OMIM:620072 |
| Pituitary Apoplexy |
|
Mydriasis, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolact... |
ORPHA:95613 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Auriculocondylar Syndrome 2B |
|
Long penis, Postnatal growth retardation, Telecanthus, Sparse hair, Limbal dermoid, Synophrys |
OMIM:620458 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Hypoplasia of the corpus callosum, Down-s... |
ORPHA:1520 |
| Coffin-Siris Syndrome 2 |
|
Small nail, Long eyelashes, Thick eyebrow, Intrauterine growth retardation, Absent fifth fingerna... |
OMIM:614607 |
| Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Abnormal eyelid morphology, Lympha... |
ORPHA:2221 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... |
ORPHA:894 |
| Houge-Janssens Syndrome 2 |
|
Broad hallux, Deviation of the 5th finger, Hypoplasia of the corpus callosum, Agenesis of corpus ... |
OMIM:616362 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:618462 |
| Sarcoidosis |
|
Abnormal lymph node morphology, Abnormal reproductive system morphology, Erythema nodosum, Tubulo... |
ORPHA:797 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Microcytic anemia, Hypopituitarism, Hepatosplenomegaly, Hypothyroidism, Short stature |
OMIM:619013 |
| Warburg Micro Syndrome 2 |
|
Global brain atrophy, Polymicrogyria, Secondary microcephaly, Overlapping toe, Hypoplasia of the ... |
OMIM:614225 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cerebellar hypoplasia, Dilated cardiomyopathy, Reduced systolic function, Microphthalmia |
OMIM:618805 |
| Reynolds Syndrome |
|
Irregular hyperpigmentation, Skin rash, Infectious encephalitis, Keratoconjunctivitis sicca, Arth... |
ORPHA:779 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Telecanthus, Astigmatism, Attention deficit hyperactivity disorder, Hypothyroidism, Motor tics, H... |
OMIM:619927 |
| N-Acetylaspartate Deficiency |
|
Short stature, Motor stereotypy, Self-mutilation |
OMIM:614063 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis |
OMIM:300367 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Upslanted palpebral fissure, Hyperactivity, Macroorchidism, Impulsivity, Synophrys |
OMIM:300143 |
| Pilarowski-Bjornsson Syndrome |
|
Downslanted palpebral fissures, Postnatal growth retardation, Long eyelashes, Almond-shaped palpe... |
OMIM:617682 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Bilateral microphthalmos |
ORPHA:77299 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Holt-Oram Syndrome |
|
Atrioventricular block, Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent ... |
ORPHA:392 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse eyebrow, Telecanthus, Cryptorchidism, Sparse eyelashes, Epicanthus, Abnormality of skin pi... |
ORPHA:75496 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Downslanted palpebral fissures, Postnatal growth retardation, Thick eyebrow, Almond-shaped palpeb... |
ORPHA:529965 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Androgen insufficiency, Increased circulating ACTH level, Vitiligo, Primary ad... |
ORPHA:95409 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pigmentary retinopathy, Growth delay, Intrauterine growth retardation, Megaloblastic anemia, Thro... |
ORPHA:79282 |
| Limb Body Wall Complex |
|
Broad hallux, Myelomeningocele, Aplasia of the proximal phalanges of the hand, Cutaneous finger s... |
ORPHA:2369 |
| Joubert Syndrome 33 |
|
Macrocephaly, Syndactyly |
OMIM:617767 |
| Radio-Tartaglia Syndrome |
|
Precocious puberty, Highly arched eyebrow, High anterior hairline, Small nail, Downslanted palpeb... |
OMIM:619312 |
| Rotor Syndrome |
|
Conjunctival icterus |
ORPHA:3111 |
| Granulomatosis With Polyangiitis |
|
Keratitis, Episcleritis, Granulomatosis, Sinusitis, Conjunctivitis, Chronic otitis media, Uveitis |
OMIM:608710 |
| Baraitser-Winter Syndrome 2 |
|
Secondary microcephaly, Agenesis of corpus callosum, Microphthalmia, Pachygyria, Lissencephaly |
OMIM:614583 |
| Alazami Syndrome |
|
Short palpebral fissure, Sparse eyebrow, Postnatal growth retardation, Abnormal eating behavior, ... |
ORPHA:319671 |
| Reni Syndrome |
|
Hypogonadism, Lymphopenia, Adrenal insufficiency, Cryptorchidism, Ptosis, Hyperpigmentation of th... |
OMIM:617575 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Birk-Barel Syndrome |
|
Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate, High palate, Short philtrum |
OMIM:612292 |
| Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Hypochromic microcytic anemia, Concave nail, Cheilitis, Dysphagia, Geophagia |
ORPHA:54028 |
| Kawasaki Disease |
|
Hepatitis, Abnormality of nail color, Cervical lymphadenopathy, Leukocytosis, Skin rash, Cholecys... |
ORPHA:2331 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Microphthalmia, Encephalocele... |
OMIM:614643 |
| Joubert Syndrome 20 |
|
Postaxial polydactyly, 4-5 toe syndactyly |
OMIM:614970 |
| Mitochondrial Dna Depletion Syndrome 19 |
|
Microcytic anemia, Hydrocele testis, Hypospadias |
OMIM:618972 |
| Frontorhiny |
|
Cranium bifidum occultum, Finger clinodactyly, Aplasia/Hypoplasia of the corpus callosum, Camptod... |
ORPHA:391474 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ... |
ORPHA:85167 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
| Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor... |
OMIM:619217 |
| Sirenomelia |
|
Sirenomelia, Aplasia/Hypoplasia of the radius, Spina bifida |
ORPHA:3169 |
| Frontofacionasal Dysplasia |
|
Cataract, Microcornea, Telecanthus, Limbal dermoid, Absent inner eyelashes, Upper eyelid coloboma... |
ORPHA:1791 |
| Meckel Syndrome 14 |
|
Postaxial foot polydactyly, Occipital encephalocele, Tricuspid regurgitation, Mitral regurgitatio... |
OMIM:619879 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Short distal phalanx of finger, Finger syndactyly, Camptodactyly of finger, Arachnodactyly, Micro... |
ORPHA:2994 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Microcytic anemia, Cherry red spot of the macula, Splenomegaly, Lymphaden... |
OMIM:257200 |
| Autosomal Erythropoietic Protoporphyria |
|
Microcytic anemia, Cholelithiasis, Eczematoid dermatitis |
ORPHA:79278 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Coarse hair, Bilateral ptosis, Bruxism, Upslanted palpebral fissure, Epicanthus, Curly hair, Moto... |
OMIM:616351 |
| Farber Disease |
|
Cherry red spot of the macula, Hepatosplenomegaly, Lymphadenopathy, Arthritis, Corneal opacity, A... |
ORPHA:333 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Allergic rhinitis, Splenomegaly, Skin rash, Anemia of inadequate production |
OMIM:612714 |
| Gracile Bone Dysplasia |
|
Slender long bone, Flared metaphysis, Aniridia, Brachydactyly, Hydrocephalus, Microphthalmia |
OMIM:602361 |
| Ritscher-Schinzel Syndrome 3 |
|
Cerebellar vermis hypoplasia, Short 1st metacarpal, Relative macrocephaly, Short first metatarsal... |
OMIM:619135 |
| Galloway-Mowat Syndrome 6 |
|
Growth delay, Decreased response to growth hormone stimulation test, Intrauterine growth retardat... |
OMIM:618347 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Talipes equinovar... |
OMIM:609945 |
| Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Hyperpigmentation of the skin, Thrombocytopenia, Anemia |
OMIM:230800 |
| Autoimmune Hypoparathyroidism |
|
Conjunctivitis, Cataract, Autoimmune hypoparathyroidism, Chronic mucocutaneous candidiasis |
ORPHA:36913 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Orofaciodigital Syndrome Ii |
|
Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty... |
OMIM:252100 |
| Garg-Mishra Progeroid Syndrome |
|
Slender long bone, Slender metacarpals, Secondary microcephaly, Microphthalmia, Broad palm, Coxa ... |
OMIM:620601 |
| Mevalonic Aciduria |
|
Cataract, Nuclear cataract, Fluctuating splenomegaly, Downslanted palpebral fissures, Morbillifor... |
OMIM:610377 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Microcephaly, Syndactyly |
OMIM:615284 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Small cerebral cortex, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Agenesis of cor... |
OMIM:617914 |
| Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Broad thumb, Prominent fingertip pads, Genu valgum, Arachnodactyly, Postaxial polydactyly, Microc... |
OMIM:619721 |
| Mogs-Cdg |
|
Short palpebral fissure, Alopecia, Fair hair, Long eyelashes, Hepatosplenomegaly, External genita... |
ORPHA:79330 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Ectopic lacrimal punctum, Telecanthus, Lower eyelid coloboma, Absent lacrimal pun... |
OMIM:167730 |
| Pseudohypoparathyroidism Type 1C |
|
Cataract, Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level... |
ORPHA:79444 |
| Breath-Holding Spells |
|
Iron deficiency anemia |
OMIM:607578 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Xanthelasma, Reticulocytosis, Splenomegaly, Episodic hemolytic a... |
OMIM:210250 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Crimean-Congo Hemorrhagic Fever |
|
Parotitis, Anorexia, Morbilliform rash, Pancytopenia, Leukopenia, Leukocytosis, Cholecystitis, Sp... |
ORPHA:99827 |
| Spermatogenic Failure 44 |
|
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... |
OMIM:619044 |
| Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy |
OMIM:617830 |
| Weaver Syndrome |
|
Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Talipes equinovarus, Large h... |
ORPHA:3447 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Downslanted palpebral fissures, Bilateral cryptor... |
OMIM:305400 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Oral mucosal blisters, Esophageal stenosis, Neonatal death |
OMIM:619817 |
| Albinism, Oculocutaneous, Type V |
|
Albinism |
OMIM:615312 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Abnormality of the wrist, Abnormal thumb morphology, Finger syndactyly, Proximal placement of thumb |
ORPHA:1825 |
| Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
| Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia, Goiter |
OMIM:274240 |
| Arboleda-Tham Syndrome |
|
Highly arched eyebrow, Growth delay, Sparse medial eyebrow, Recurrent otitis media, Thin eyebrow,... |
OMIM:616268 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty, Aggressive behavior, Hyperactivity, Abnormality of skin pigmentation |
ORPHA:457260 |
| Fanconi Anemia, Complementation Group S |
|
Microcephaly, Proximal placement of thumb, Clinodactyly, Microphthalmia |
OMIM:617883 |
| Hallermann-Streiff Syndrome |
|
Slender long bone, Telangiectasia, Microcephaly, Abnormality of the hand, Pulmonary arterial hype... |
OMIM:234100 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Short thumb, Overlapping toe, Distally placed thumb, Encephalocele, Single transverse palmar crea... |
OMIM:619148 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Highly arched eyebrow, Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Intrau... |
OMIM:617751 |
| Agel Amyloidosis |
|
Cataract, Bilateral ptosis, Blepharochalasis, Nail dystrophy, Keratoconjunctivitis sicca, Abnorma... |
ORPHA:85448 |
| Rubinstein-Taybi Syndrome 2 |
|
Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Short first metatarsal, Micro... |
OMIM:613684 |
| Cartilage-Hair Hypoplasia |
|
Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Short pa... |
ORPHA:175 |
| 1Q21.1 Microdeletion Syndrome |
|
Broad thumb, Toe syndactyly, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Talipes... |
ORPHA:250989 |
| Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Hand clenching, 2-3 toe cutaneous syndactyly, Sandal gap, Broad hallux, Um... |
OMIM:300166 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Arachnodactyly, Microcephaly, Clinodactyly, Syndactyly |
OMIM:619092 |
| Listeriosis |
|
Pneumonia, Abnormal cellular immune system morphology, Arteritis, Brain abscess, Liver abscess, O... |
ORPHA:533 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Alopecia totalis, Intrauterine growth retardation, Thrombocytopenia, Normochromic... |
OMIM:618775 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Fine hair, Inappropriate laughter, Intrauterine growth retardation, Astigmatism, Upslanted palpeb... |
ORPHA:363686 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Broad proximal phalanges of the hand, Bilateral microphthalmos, Ethmoidal encephalocele, Short fo... |
OMIM:607597 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Trichiasis, Sparse eyebrow, Keratitis, Corneal scarring, Nail dystrophy, Sparse eyelashes, Recurr... |
OMIM:148210 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Iron deficiency anemia |
OMIM:300752 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,... |
ORPHA:2788 |
| Limb-Mammary Syndrome |
|
Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Split foot, Syndactyly |
OMIM:603543 |
| Chronic Bilirubin Encephalopathy |
|
Conjunctival icterus, Hemolytic anemia, Abnormal conjunctiva morphology |
ORPHA:529808 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Acute Bilirubin Encephalopathy |
|
Conjunctival icterus, Hemolytic anemia, Abnormal conjunctiva morphology |
ORPHA:529799 |
| Hyperprolinemia, Type I |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:239500 |
| Pelger-Huet Anomaly |
|
Giant platelets, Eczematoid dermatitis, Recurrent otitis media, Hyposegmentation of neutrophil nu... |
OMIM:169400 |
| Nijmegen Breakage Syndrome |
|
Recurrent pneumonia, Acute leukemia, Abnormal hair morphology, Upslanted palpebral fissure, Autoi... |
ORPHA:647 |
| Isolated Congenital Alacrima |
|
Keratitis, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Ptosis, Conjunctivi... |
ORPHA:91416 |
| 2Q31.1 Microdeletion Syndrome |
|
Cerebral cortical atrophy, Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger... |
ORPHA:251014 |
| Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Hypoplastic scapulae, Shortening of all phalanges of fingers, Hy... |
OMIM:114290 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pigmentary retinopathy, Megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:277400 |
| Joubert Syndrome 15 |
|
Exencephaly, Preaxial polydactyly |
OMIM:614464 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Brachydactyly, Short long bone, Polydactyly |
OMIM:613819 |
| Chromomycosis |
|
Keratitis, Hypopigmented skin patches, Eyelid retraction, Keratoconjunctivitis sicca, Ectropion |
ORPHA:182 |
| Bloom Syndrome |
|
Abscess, Sparse eyelashes, Abnormal proportion of CD8-positive T cells, Acute myeloid leukemia, O... |
ORPHA:125 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Ciliary Dyskinesia, Primary, 50 |
|
Chronic sinusitis, Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motili... |
OMIM:620356 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microcephaly, Global brain atrophy, Microphthalmia |
OMIM:308350 |
| Chédiak-Higashi Syndrome |
|
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Hypopigmentation ... |
ORPHA:167 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Bloom Syndrome |
|
Hypopigmentation of the skin, Growth delay, Hypertrichosis, Postnatal growth retardation, Azoospe... |
OMIM:210900 |
| Thrombotic Thrombocytopenic Purpura |
|
Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
ORPHA:54057 |
| Microphthalmia, Syndromic 6 |
|
Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Toe syndactyly, Finger syndacty... |
OMIM:607932 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Brittle hair, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemi... |
OMIM:616084 |
| Fanconi Anemia, Complementation Group V |
|
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Short stature |
OMIM:617243 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Duane-Radial Ray Syndrome |
|
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi... |
OMIM:607323 |
| Pseudotrisomy 13 Syndrome |
|
Postaxial foot polydactyly, Polymicrogyria, Encephalocele, Agenesis of corpus callosum, 2-3 toe s... |
OMIM:264480 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cataract, Elevated circulating luteinizing hormone level, Premature graying of hair, Decreased re... |
OMIM:300845 |
| Pseudohypoparathyroidism Type 1A |
|
Cataract, Pituitary resistance to thyroid hormone, Band keratopathy, Elevated circulating parathy... |
ORPHA:79443 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Broad hallux, Hypoplasia of the corpus callosum, Single transverse palmar crease, Microcephaly, M... |
OMIM:614105 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cavum septum pellucidum, Macrocephaly, Microphthalmia, Clinodactyly of the 5th finger, Relative m... |
OMIM:617306 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik... |
OMIM:605282 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Congenital hypoplastic anemia, Anemia of inadequate production |
OMIM:105600 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... |
OMIM:619827 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Bone marrow hypocellularity, Fine hair, Premature graying of hair, Postnatal growth retardation, ... |
OMIM:612199 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Abnormal T cell count, Type I diabetes mellitus, Hepatic hemophagocytosis, Recurrent otitis media... |
OMIM:620430 |
| Cyclic Neutropenia |
|
Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Otitis media, Peritonit... |
ORPHA:2686 |
| 4Q21 Microdeletion Syndrome |
|
Self-injurious behavior, Growth delay, Long eyelashes, Intrauterine growth retardation, Generaliz... |
ORPHA:238750 |
| Cog4-Cdg |
|
Hepatosplenomegaly, Thick hair, Thrombocytopenia, Growth delay |
ORPHA:263501 |
| Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
| Coffin-Siris Syndrome 7 |
|
Downslanted palpebral fissures, Recurrent otitis media, Thick eyebrow, Epicanthus, Short stature,... |
OMIM:618027 |
| Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Anemia, Sideroblastic anemia, Leukopenia, Bilateral ptosis |
OMIM:255125 |
| Joubert Syndrome 17 |
|
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly |
OMIM:614615 |
| Crouzon Syndrome |
|
Conjunctivitis, Keratitis, Shallow orbits, Dysgerminoma |
OMIM:123500 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Slender finger, Hemiatrophy of upper limb, Abnormal femoral neck/head morphology, Flattened epiph... |
ORPHA:163649 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Highly arched eyebrow, Downslanted palpebral fissures, Obsessive-compulsive trait, Aggressive beh... |
OMIM:618825 |
| Hermansky-Pudlak Syndrome |
|
Iris hypopigmentation, Cataract, Menometrorrhagia, Hypopigmentation of the skin, Abnormality of t... |
ORPHA:79430 |
| Von Willebrand Disease, Platelet-Type |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
| Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Umbilical hernia, Abnormal... |
ORPHA:261318 |
| Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Micromelia, Polymicrogyria, Cerebral calcification, Absent septum pel... |
ORPHA:2671 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased circulating T4 concentration, Intrauterine growth retardation, Cryptorchidism, Hypothyr... |
OMIM:608104 |
| Heart And Brain Malformation Syndrome |
|
Hand clenching, Cerebellar vermis hypoplasia, Global brain atrophy, Cerebral atrophy, Camptodacty... |
OMIM:616920 |
| Vascular Malformation, Primary Intraosseous |
|
Hypochromic anemia |
OMIM:606893 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Thrombocytopenia, Anemia, Growth delay |
OMIM:611490 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Abnormality of the male genitalia, Telecanthus, Abnormal hemoglobin, Cry... |
ORPHA:847 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Self-injurious behavior, Short palpebral fissure, Recurrent hand flapping, Almond-shaped palpebra... |
OMIM:300986 |
| Stevenson-Carey Syndrome |
|
Joint contracture of the hand, Microphthalmia, Hypoplasia of the corpus callosum, Cerebellar hypo... |
OMIM:611961 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Bifid uvula, Thick lower lip vermilion, Open mouth, Submucous cleft hard palate, Thin vermilion b... |
OMIM:617412 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Short 5th finger, Ectrodactyly, Small placenta, Polydactyly, Clinodactyly of the 5th finger, Rela... |
ORPHA:397590 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Cleft soft pal... |
OMIM:616331 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Bruxism, Inappropriate laughter, Motor stereotypy, Aggressive behavior |
OMIM:619150 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Sparse eyebrow, Decreased serum testosterone concentration, Long eyelashes, Absent scrotum, Hypop... |
ORPHA:495875 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Eczematoid dermatitis, Congenital adrenal hyperplasia, Intrauterine growth ... |
ORPHA:96181 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
| Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Nephritis, Alopecia, Microangiopathic hemolytic anemia, Lymphopenia, Leukopen... |
ORPHA:93552 |
| Dilated Cardiomyopathy With Ataxia |
|
Bilateral cryptorchidism, Normochromic microcytic anemia, Intrauterine growth retardation, Hypoth... |
ORPHA:66634 |
| Gaucher Disease, Type Iii |
|
Short stature, Pancytopenia, Splenomegaly, Thrombocytopenia |
OMIM:231000 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Pancytopenia, Malar rash, Skin rash, Splenomegaly, Neutropenia, Thrombocytopenia... |
ORPHA:398124 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... |
ORPHA:3226 |
| Baker-Gordon Syndrome |
|
Self-injurious behavior, Epicanthus, Motor stereotypy |
OMIM:618218 |
| Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis |
OMIM:148200 |
| Chromosome 17Q12 Duplication Syndrome |
|
Smooth philtrum, Cleft soft palate, Esophageal atresia |
OMIM:614526 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Sandal gap, Tapered finger |
ORPHA:1438 |
| Blue Rubber Bleb Nevus |
|
Microcytic anemia, Skin rash |
ORPHA:1059 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hydrocephalus, Microphthalmia |
OMIM:601794 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Microcephaly, Unilateral microphthalmos, Bilateral microphthalmos |
OMIM:619318 |
| Joubert Syndrome 37 |
|
Postaxial polydactyly, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Microphth... |
OMIM:619185 |
| Hereditary Acrokeratotic Poikiloderma |
|
Irregular hyperpigmentation, Eczematoid dermatitis, Hypopigmented skin patches, Dystrophic toenai... |
ORPHA:2907 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Self-injurious behavior, Downslanted palpebral fissures, Thick eyebrow, Frontal upsweep of hair, ... |
OMIM:617061 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Pericarditis |
ORPHA:163596 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
| Oculofaciocardiodental Syndrome |
|
Short thumb, Genu valgum, Flexion contracture of the 4th toe, 2-3 toe syndactyly, Radioulnar syno... |
ORPHA:2712 |
| Rothmund-Thomson Syndrome Type 1 |
|
Hypopigmentation of the skin, Aplastic anemia, Leukemia, Growth delay, Hypogonadism, Alopecia tot... |
ORPHA:221008 |
| Incontinentia Pigmenti |
|
Supernumerary nipple, Sparse hair, Onychogryposis, Cataract, Alopecia, Breast aplasia, Breast hyp... |
OMIM:308300 |
| Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial ... |
OMIM:277170 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... |
ORPHA:37042 |
| Femoral-Facial Syndrome |
|
Short fifth metatarsal, Toe syndactyly, Hypoplastic acetabulae, Short femur, Preaxial hand polyda... |
OMIM:134780 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplenomegaly, Pancyt... |
OMIM:259710 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Rhizomelia, Giant platelets, Downslanted palpebral fissures, Postnatal growth retardation, Intrau... |
OMIM:611209 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Motor stereotypy |
OMIM:617820 |
| Chromosome 5P13 Duplication Syndrome |
|
Self-injurious behavior, Short palpebral fissure, Astigmatism, Upslanted palpebral fissure, Low p... |
OMIM:613174 |
| Bardet-Biedl Syndrome 17 |
|
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, Postaxial han... |
OMIM:615994 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Fetal Gaucher Disease |
|
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Ectropion |
ORPHA:85212 |
| Filippi Syndrome |
|
2-4 toe syndactyly, Finger clinodactyly, Single transverse palmar crease, Microcephaly, Cutaneous... |
OMIM:272440 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Cerebral calcification, Hypoplasia of the corpus ca... |
OMIM:616538 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Neutrophilic infiltration of the skin, Skin rash, Lymphad... |
OMIM:618048 |
| Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Microphthalmia, Microcephaly, Spina bifida, Cavum s... |
OMIM:304050 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Deviation of the 2nd finger, Finger syndactyly, Clinodactyly, Cerebral atrophy, Overlapping toe, ... |
ORPHA:464738 |
| Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Recurrent pneumonia, Downslanted palpebral fissures, Hepatosplenomegaly,... |
ORPHA:397612 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
| Neovascular Glaucoma |
|
Retinal vein occlusion, Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Retinal vascula... |
ORPHA:94058 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Short palpebral fissure, Telecanthus, Upslanted palpebral fissure, Cryptorchi... |
OMIM:620073 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Cataract, Growth delay, Ocular albinism, Cryptorchidism, Anemia, Corneal o... |
ORPHA:2719 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Impotence, Conjunctival icterus, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis... |
ORPHA:447 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Hypoplasia of the brainstem, Single transverse palmar crease, 2-3 toe syndactyly... |
OMIM:236500 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Proportionate short stature, Attention deficit hyperactivity disorder, D... |
OMIM:617044 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia, Tachycardia, Internal hemorrhage, Clubbing of fingers |
ORPHA:335 |
| Ciliary Dyskinesia, Primary, 51 |
|
Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Reduced progressive sperm m... |
OMIM:620438 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis |
OMIM:617948 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... |
OMIM:153670 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Arrhythmia, Synostosis of carpal bones, Bilateral single transverse palmar creases, Microphthalmia |
ORPHA:3191 |
| Acro-Renal-Ocular Syndrome |
|
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... |
ORPHA:959 |
| Marden-Walker Syndrome |
|
Joint contracture of the hand, Inferior cerebellar vermis hypoplasia, Hypoplasia of the brainstem... |
OMIM:248700 |
| Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Finger syndactyly |
ORPHA:1514 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
| Ivic Syndrome |
|
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... |
OMIM:147750 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Microcytic anemia |
OMIM:618811 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short thumb, Short 1st metacarpal, Absent septum pellucidum, Agenesis of corpus cal... |
OMIM:609053 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Cataract, Bone marrow hypocellularity, Eczematoid dermatitis, Rhizomelic arm shortening, Lymphope... |
ORPHA:508542 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Corneal neovascularization, Entropion, Keratoconjunctivitis sicca, Ectropion... |
OMIM:278730 |
| Lacrimoauriculodentodigital Syndrome 2 |
|
Conjunctivitis, Lacrimal duct aplasia, Absent lacrimal punctum, Lacrimal duct atresia |
OMIM:620192 |
| Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... |
OMIM:611783 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Dysphagia |
OMIM:313200 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Smith-Magenis Syndrome |
|
Head-banging, Abnormality of the thyroid gland, Onychotillomania, Self-mutilation, Hyperactivity,... |
OMIM:182290 |
| Hypogonadism, Male |
|
Testicular atrophy, Hypospadias, Male hypogonadism, Micropenis |
OMIM:241100 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Toe clinodactyly, Toe syndactyly, Finger syndactyly, Short toe, Cerebral a... |
ORPHA:2308 |
| Waardenburg Syndrome |
|
Hypopigmented skin patches, Abnormal vagina morphology, Premature graying of hair, Abnormality of... |
ORPHA:3440 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho... |
OMIM:615503 |
| Baraitser-Winter Syndrome 1 |
|
Aortic valve stenosis, Agenesis of corpus callosum, Microcephaly, Duplication of phalanx of hallu... |
OMIM:243310 |
| Von Willebrand Disease |
|
Abnormality of thrombocytes, Microcytic anemia, Thrombocytopenia, Abnormal platelet function, Men... |
ORPHA:903 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Microcytic anemia, Ptosis, Short stature |
OMIM:612073 |
| Lichen Planopilaris |
|
Alopecia, Hypopigmented skin patches, Hepatitis, Pterygium, Abnormal fingernail morphology, Onych... |
ORPHA:525 |
| Relapsing Polychondritis |
|
Cataract, Uveitis, Alopecia, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Epi... |
ORPHA:728 |
| Foxg1 Syndrome |
|
Bruxism, Stereotypical hand wringing, Severe postnatal growth retardation, Motor stereotypy, Shor... |
ORPHA:561854 |
| Propionic Acidemia |
|
Eczematoid dermatitis, Pancytopenia, Pancreatitis, Neutropenia, Thrombocytopenia, Anemia, Short s... |
OMIM:606054 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Micromelia, Postaxial polydactyly, Brachydactyly, Hypoplasia of the radius, Rel... |
OMIM:617895 |
| Developmental And Epileptic Encephalopathy 64 |
|
Self-injurious behavior, Highly arched eyebrow, Sparse eyebrow, Bruxism, Long eyelashes, Thick ey... |
OMIM:618004 |
| Cryoglobulinemic Vasculitis |
|
Splenomegaly, Keratoconjunctivitis sicca, Arthritis, Mediastinal lymphadenopathy, Viral hepatitis |
ORPHA:91138 |
| African Trypanosomiasis |
|
Myelitis, Alopecia, Keratitis, Abnormality of the menstrual cycle, Infertility, Hepatosplenomegal... |
ORPHA:3385 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Cerebellar vermis hypoplasia, Prominent fingertip pads, Cerebral atrophy, Polymicrogyria, Overlap... |
OMIM:618494 |
| Pearson Marrow-Pancreas Syndrome |
|
Type I diabetes mellitus, Anorexia, Sideroblastic anemia, Pancytopenia, Punctate keratitis, Refra... |
OMIM:557000 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus, Finger syndactyly, Clinodactyly |
ORPHA:251046 |
| Aicardi-Goutieres Syndrome 5 |
|
Chilblains, Thrombocytopenia |
OMIM:612952 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Goiter, Leukocytosis, Hashimoto thyroiditis, Hypothyroidism, Thrombocytopenia |
ORPHA:83601 |
| Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
| Chromosome 3Q29 Deletion Syndrome |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:609425 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Microcephaly, Syndactyly |
ORPHA:1942 |
| Methionine Malabsorption Syndrome |
|
Blue irides, White hair |
OMIM:250900 |
| Vici Syndrome |
|
Cataract, Hypopigmentation of the skin, Chronic mucocutaneous candidiasis, Ocular albinism, Lymph... |
OMIM:242840 |
| Mucopolysaccharidosis, Type Iiib |
|
Coarse hair, Splenomegaly, Hirsutism, Aggressive behavior, Hyperactivity, Synophrys |
OMIM:252920 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Matthew-Wood Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2470 |
| Otopalatodigital Syndrome, Type Ii |
|
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... |
OMIM:304120 |
| Autism, Susceptibility To, X-Linked 2 |
|
Increased serum serotonin, Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300495 |
| Mucopolysaccharidosis, Type Ix |
|
Bifid uvula, Submucous cleft hard palate |
OMIM:601492 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Axillary pterygium, Small scrotum, Popliteal pterygium, Downslanted palpebral fissures, Pterygium... |
ORPHA:2990 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Highly arched eyebrow, Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Crypto... |
ORPHA:500159 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Postaxial polydactyly type A, Broad hallux, 2-3 toe syndactyly, 2-3 finger syndactyly, Postaxial ... |
OMIM:217085 |
| Tenorio Syndrome |
|
Recurrent pneumonia, Hypertrichosis, Recurrent aphthous stomatitis, Telecanthus, Thick eyebrow, K... |
OMIM:616260 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Abnormality of the nail |
ORPHA:621 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myopic astigmatism, Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivit... |
OMIM:620141 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Ritscher-Schinzel Syndrome 4 |
|
Downslanted palpebral fissures, Cryptorchidism, Aggressive behavior, Short stature, Dysphagia, Cu... |
OMIM:619435 |
| Angelman Syndrome |
|
Iris hypopigmentation, Keratoconus, Self-injurious behavior, Hypopigmentation of the skin, Precoc... |
ORPHA:72 |
| Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... |
OMIM:617907 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Bilateral cryptorchidism, Astigmatism, Cryptorchidism, Low anterior hairline, Obsessive-compulsiv... |
OMIM:617796 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... |
OMIM:250790 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Sparse pubic hair, Decreased serum testosterone concentration, Decreased testicula... |
OMIM:308700 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Hypodontia, Glossoptosis, Submucous cleft hard palate |
ORPHA:3201 |
| Holoprosencephaly 9 |
|
Abnormal cortical gyration, Alobar holoprosencephaly, Holoprosencephaly, Anophthalmia, Microcepha... |
OMIM:610829 |
| Rhabdoid Tumor |
|
Anemia, Lymphadenopathy, Thrombocytopenia |
ORPHA:69077 |
| Takenouchi-Kosaki Syndrome |
|
Eversion of lateral third of lower eyelids, Highly arched eyebrow, Sparse eyebrow, Downslanted pa... |
OMIM:616737 |
| Angelman Syndrome Due To A Point Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Inappropriate laughter, Abnormal eating beha... |
ORPHA:411511 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Abnormality of the dentition, Long philtrum, Cleft soft palate, Gingival overgrowth, Absent uvula... |
OMIM:618529 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Highly arched eyebrow, Broad eyebrow, Thrombocytopenia, Motor stereotypy... |
ORPHA:457351 |
| Pearson Syndrome |
|
Postnatal growth retardation, Pancytopenia, Neutropenia, Hypoparathyroidism, Hypoplastic spleen, ... |
ORPHA:699 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Cataract, Short palpebral fissure, Sparse eyebrow, Downslanted palpebral fissures, Recurrent otit... |
OMIM:620654 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Y-shaped metatarsals, Preaxial hand polydactyly, Dist... |
OMIM:146510 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Aortic valve stenosis, Spinal dysraphism, Mitral stenosis, Microcephaly, Tethered cord |
OMIM:617660 |
| Coffin-Siris Syndrome 6 |
|
Downslanted palpebral fissures, Epicanthus, Attention deficit hyperactivity disorder, Narrow palp... |
OMIM:617808 |
| Acrofrontofacionasal Dysostosis 2 |
|
Broad thumb, Broad hallux, Microcephaly, Hand polydactyly, Syndactyly |
OMIM:239710 |
| Bcard Syndrome |
|
Cataract, Coarse hair, Postnatal growth retardation, Intrauterine growth retardation, Nail dyspla... |
OMIM:612394 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Bifid uvula, Submucous cleft hard palate |
OMIM:619239 |
| Blue Rubber Bleb Nevus |
|
Thrombocytopenia, Hypermelanotic macule, Iron deficiency anemia |
OMIM:112200 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Leukopenia, Otitis media, Splenomegaly, Cryptorchidism, Erythroi... |
OMIM:612541 |
| Rauch-Steindl Syndrome |
|
Highly arched eyebrow, Postnatal growth retardation, Telecanthus, Intrauterine growth retardation... |
OMIM:619695 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Jacobsen Syndrome |
|
Hypospadias, Microcornea, Annular pancreas, Telecanthus, Intrauterine growth retardation, Eyelid ... |
OMIM:147791 |
| Cloacal Exstrophy |
|
Abnormal tibia morphology, Myelomeningocele, Talipes equinovarus, Spina bifida, Abnormal fibula m... |
ORPHA:93929 |
| Pfeiffer Syndrome |
|
Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin... |
OMIM:101600 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly |
ORPHA:615 |
| Macrophage Activation Syndrome |
|
Hemophagocytosis, Hepatitis, Splenomegaly, Increased inflammatory response, Anemia, Lymphadenopat... |
ORPHA:158061 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD... |
ORPHA:331206 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hypospadias, Hypopigmented skin patches, Downslanted palpebral fissures, Cryptorchidism, Hyperact... |
ORPHA:457485 |
| Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Micromelia, Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2... |
OMIM:617866 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Brachydactyly, Short long bone |
OMIM:615633 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent pneumonia, Keratitis, Recurrent otitis media, Microcytic anemia, Long eyelashes, Intrau... |
ORPHA:99843 |
| Oculopalatocerebral Syndrome |
|
Microcephaly, Microphthalmia |
OMIM:257910 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Growth delay, HbH hemoglobin, Postnatal growth retardation, Cryptorchidism, Epicanthus, Motor ste... |
OMIM:301040 |
| 16P12.1P12.3 Triplication Syndrome |
|
Short palpebral fissure, Bilateral cryptorchidism, Decreased response to growth hormone stimulati... |
ORPHA:485405 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Highly arched eyebrow, Growth delay, Conjunctival hyperemia, Aggressive behavior, Attention defic... |
OMIM:619121 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Anonychia, Nail dystrophy, Abnormality of skin pigmentation, Abnormality of the subungual region |
ORPHA:79411 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina... |
OMIM:605432 |
| Oculocutaneous Albinism Type 2 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... |
ORPHA:79432 |
| Oculo-Palato-Cerebral Syndrome |
|
Small hand, Global brain atrophy, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Fronta... |
ORPHA:2714 |
| Poland Syndrome |
|
Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Syndactyly |
OMIM:173800 |
| Waardenburg Syndrome, Type 4C |
|
Hypopigmented skin patches, Lacrimal gland hypoplasia, Premature graying of hair, Hypogonadism, W... |
OMIM:613266 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Foot oligodactyly, Portal hypertension, Brachydactyly, Syndactyly |
OMIM:616589 |
| Immunodeficiency 91 And Hyperinflammation |
|
Recurrent pneumonia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Lymphadenopathy, Membrano... |
OMIM:619644 |
| Roberts Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Sandal gap, Radial deviation of finger, Proximal p... |
ORPHA:3103 |
| Deeah Syndrome |
|
Short palpebral fissure, Decreased response to growth hormone stimulation test, Panhypopituitaris... |
OMIM:619004 |
| Laurence-Moon Syndrome |
|
Abnormality of the hand, Polydactyly |
OMIM:245800 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Head-banging, Sparse lateral eyebrow, Downslanted palpebral fissures, Frequent temper tantrums, C... |
OMIM:619103 |
| Triploidy |
|
Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Macrocephaly, Mening... |
ORPHA:3376 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Thrombocytopenia, Downslanted palpebral fissures |
OMIM:300048 |
| Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... |
OMIM:186500 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Cataract, Motor stereotypy |
OMIM:617393 |
| Porphyria Cutanea Tarda |
|
Hypopigmentation of the skin, Cutaneous abscess, Hypertrichosis, Corneal scarring, Hirsutism, Add... |
ORPHA:101330 |
| Isovaleric Acidemia |
|
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia |
OMIM:243500 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Synovitis, Pustu... |
ORPHA:77297 |
| Incontinentia Pigmenti |
|
Hypopigmented skin patches, Supernumerary nipple, Abnormal hair morphology, Abnormal toenail morp... |
ORPHA:464 |
| Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
| Nocardiosis |
|
Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Liver abscess, Brain abscess, Osteomyelit... |
ORPHA:31204 |
| Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Anorexia... |
ORPHA:1304 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence |
OMIM:620183 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Bone marrow hypocellularity, Small nail, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614520 |
| Legius Syndrome |
|
Cataract, Inguinal freckling, Acute monocytic leukemia, Male urethral meatus stenosis, Xanthelasm... |
ORPHA:137605 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Finger aplasia, Absent toe, Clinodactyly of the 2nd finger, Tricuspid regurgitation, Clinodactyly... |
OMIM:620663 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Macrodactyly, Spinal dysraphism, Tethered cord, Sandal gap |
OMIM:612918 |
| Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Toe syndactyly, Polymicrogyria, Periventricular leukomalacia, Encephalocel... |
OMIM:100300 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Overlapping toe, Postaxial polydactyly, Microcephaly, Macular hypoplasia, Tapered finger |
OMIM:613792 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Rhizomelia, Metaphyseal cupping, Flared metaphysis, Short finger, Femoral bowing, Tibial bowing, ... |
OMIM:608940 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum... |
OMIM:206900 |
| 47,Xyy Syndrome |
|
Varicocele, Azoospermia, Cryptorchidism, Impulsivity, Attention deficit hyperactivity disorder, M... |
ORPHA:8 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret... |
OMIM:616113 |
| Oculoectodermal Syndrome |
|
Hyperpigmented streaks, Microcornea, Growth delay, Supernumerary nipple, Astigmatism, Eyelid colo... |
OMIM:600268 |
| Cohen Syndrome |
|
Downslanted palpebral fissures, Long eyelashes, Thick eyebrow, Intrauterine growth retardation, A... |
ORPHA:193 |
| Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Hypoplasia of the iris, Linear hyperpigmentation, Eyelid coloboma, Cryptorchidism, Scle... |
OMIM:613001 |
| Oculocutaneous Albinism Type 1 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue... |
ORPHA:352731 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Self-injurious behavior, Cryptorchidism, Stereotypical hand wringing, Compulsive behaviors, Motor... |
OMIM:618917 |
| Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Self-injurious behavior, Small nail, Intrauterine growth retardation, Frontal upsweep of hair, As... |
OMIM:620494 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Heart murmur, Abnormal palmar dermatoglyphics, Microcephaly, Microphthalmia |
ORPHA:2728 |
| Lymphedema-Distichiasis Syndrome |
|
Yellow nails, Recurrent corneal erosions, Distichiasis, Ptosis, Ectropion, Conjunctivitis, Cornea... |
OMIM:153400 |
| Oculocutaneous Albinism Type 1B |
|
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... |
ORPHA:79434 |
| Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters... |
OMIM:616433 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatitis, Intrauterine growth retardation, Splenomegaly, Thrombocytopenia, Anemia |
ORPHA:294 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Sparse pubic hair, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogo... |
OMIM:308750 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cerebral atrophy, Single transverse palmar crease, Agenesis of corpus callosum, 2-3 toe syndactyl... |
OMIM:616449 |
| Malignant Atrophic Papulosis |
|
Constrictive pericarditis, Abnormal conjunctiva morphology |
OMIM:602248 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Growth delay, Fine hair, Glomerulonephritis, Motor stereotypy, Synophrys |
OMIM:619428 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Deep palmar crease, Brachydactyly, Genu varum, Clinodactyly of the 5th finger, Hip dislocation, S... |
OMIM:619451 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Sparse eyebrow, Primary hypothyroidism, Nail dysplasia, Abnormality of skin pigmentation, Sparse ... |
OMIM:225050 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Intrauterine growth retardation, Upslanted palpebral fissure, Cryptorchidism, Epicanthus, Aggress... |
OMIM:615824 |
| Laurence-Moon Syndrome |
|
Hand polydactyly, Brachydactyly, Finger syndactyly, Bilateral single transverse palmar creases |
ORPHA:2377 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
| Kapur-Toriello Syndrome |
|
Joint contracture of the hand, Short thumb, Camptodactyly of finger, Polymicrogyria, Overlapping ... |
OMIM:244300 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, Cerebellar hypoplasia, Talipes equinovarus, Microcephaly, Microphthalmia, Holoprosenc... |
OMIM:612530 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Umbilical hernia, Congestive heart failure, Microcephaly, Microphthalmia, Upper limb asymmetry |
ORPHA:2505 |
| Chronic Graft Versus Host Disease |
|
Alopecia, Abnormal vagina morphology, Urinary bladder inflammation, Fasciitis, Anorexia, Pancytop... |
ORPHA:99921 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Warburg Micro Syndrome 3 |
|
Cerebral cortical atrophy, Polymicrogyria, Secondary microcephaly, Hypoplasia of the corpus callo... |
OMIM:614222 |
| Hyperlysinemia, Type I |
|
Anemia, Ectopia lentis, Hyperactivity |
OMIM:238700 |
| Prader-Willi Syndrome Due To Translocation |
|
Iris hypopigmentation, Abnormal temper tantrums, Hypopigmentation of the skin, Head-banging, Decr... |
ORPHA:177907 |
| Endocrine-Cerebroosteodysplasia |
|
Sandal gap, Micromelia, Preaxial polydactyly, Focal polymicrogyria, Fibular bowing, Absent septum... |
OMIM:612651 |
| Klippel-Trénaunay Syndrome |
|
Microcytic anemia, Abnormality of the menstrual cycle |
ORPHA:90308 |
| Atelis Syndrome 2 |
|
Short palpebral fissure, Elevated circulating thyroid-stimulating hormone concentration, Hyperins... |
OMIM:620185 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tapered distal ... |
OMIM:609638 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Cataract, Severe B lymphocytopenia, Lymphopenia, Intrauterine growth retardatio... |
OMIM:620005 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Sparse eyebrow, Hamartoma of the orbital region, Lacrimal punctal atresia, Telecanthus,... |
ORPHA:2399 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Short tibia, Preaxial polydactyly, Relative macrocephaly, Hypoplastic pelvis, Encepha... |
OMIM:616300 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly, Microcephaly |
ORPHA:544254 |
| Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... |
OMIM:620103 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long... |
OMIM:614091 |
| Wiedemann-Steiner Syndrome |
|
Short palpebral fissure, Rhizomelia, Decreased response to growth hormone stimulation test, Postn... |
ORPHA:319182 |
| Lathosterolosis |
|
Cataract, Microcornea, Downslanted palpebral fissures, Intrauterine growth retardation, Epicanthu... |
ORPHA:46059 |
| Refsum Disease |
|
Abnormal epiphysis morphology, Cardiomyopathy, Short metacarpal, Microphthalmia, Hammertoe, Heart... |
ORPHA:773 |
| Congenital Enterovirus Infection |
|
Hepatitis, Leukopenia, Leukocytosis, Skin rash, Abnormal macrophage morphology, Infectious enceph... |
ORPHA:292 |
| Monosomy 13Q14 |
|
Finger syndactyly, Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the thumb, Microcepha... |
ORPHA:1587 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620065 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Ectropion, Conjunctivitis, Entropion, Keratitis |
OMIM:278740 |
| 9P13 Microdeletion Syndrome |
|
Precocious puberty, Highly arched eyebrow, Recurrent otitis media, Bruxism, External genital hypo... |
ORPHA:324313 |
| Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Long eyelashes, Absent scrotum, Low anterior hairline, Hirsutism, Aggressive behavior, Keratoconj... |
OMIM:618479 |
| Barth Syndrome |
|
Fair hair, Cyclic neutropenia, Hypochromic microcytic anemia, Neutropenia, Granulocytopenia, Grow... |
OMIM:302060 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level... |
ORPHA:90795 |
| Boutonneuse Fever |
|
Cervical lymphadenopathy, Leukopenia, Skin rash, Lymphadenopathy, Thrombocytopenia, Maculopapular... |
ORPHA:83313 |
| Squalene Synthase Deficiency |
|
Bilateral cryptorchidism, Intrauterine growth retardation, Abnormality of hair pigmentation, Epic... |
OMIM:618156 |
| Drug-Induced Lupus Erythematosus |
|
Malar rash, Serositis, Thrombocytopenia, Anemia, Pericarditis |
ORPHA:231111 |
| Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... |
OMIM:139090 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Small nail, Hypogonadism, Hypoplastic nipples, Nasolacrimal duct obstruction, Sparse hair |
OMIM:273400 |
| Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Bra... |
ORPHA:1515 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Downslanted palpebral fissures, Astigmatism, Iron deficiency anemia, Pineal cyst, Short stature |
OMIM:618885 |
| Fg Syndrome 3 |
|
Fine hair, Frontal upsweep of hair, Cryptorchidism, Hyperactivity, Sparse hair |
OMIM:300406 |
| Kikuchi-Fujimoto Disease |
|
Alopecia, Abnormal lymph node morphology, Cervical lymphadenopathy, Anorexia, Leukopenia, Malar r... |
ORPHA:50918 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Single transverse palmar crease, Microphthalmia |
OMIM:619053 |
| Castleman Disease |
|
Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy, Thrombocytopenia, Anemia, D... |
ORPHA:160 |
| Nance-Horan Syndrome |
|
Short metacarpal, Microphthalmia |
ORPHA:627 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Varicocele, Rheumatoid arthritis, Psoriasiform dermatitis, Hashimoto thyroidit... |
ORPHA:49041 |
| Christianson Syndrome |
|
Inappropriate laughter, Thick eyebrow, Motor stereotypy, Dysphagia |
ORPHA:85278 |
| Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Toe clinodactyly, Broad thumb, Relative macrocephaly, Monkey wrench femoral... |
OMIM:615777 |
| Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Aplasia/Hypoplasia of t... |
ORPHA:568 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia |
OMIM:231095 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ... |
ORPHA:1788 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 5th finger, Broad thumb, Sandal gap, Broad hallux, 2-3 toe syndactyly, Microcephaly, Cutane... |
OMIM:600987 |
| Phakomatosis Pigmentokeratotica |
|
Arrhythmia, Hemiatrophy, Raynaud phenomenon, Spina bifida |
ORPHA:2874 |
| Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Ankyloblepharon, Alopecia totalis, Aplasia/Hypoplasia of the eyebrow, Sparse... |
ORPHA:1234 |
| Congenital Sialidosis Type 2 |
|
Abnormal EKG, Umbilical hernia, Polydactyly, Telangiectasia, Hypoplasia of the fovea, Hydrocephal... |
ORPHA:93400 |
| Syndromic Diarrhea |
|
Trichorrhexis nodosa, Lymphopenia, Intrauterine growth retardation, Brittle hair, Splenomegaly, H... |
ORPHA:84064 |
| Fraser Syndrome 1 |
|
Abnormal cortical gyration, Bilateral microphthalmos, Myelomeningocele, Cutaneous finger syndacty... |
OMIM:219000 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Prominent fingertip pads, Joint contracture of the 5th finger, Single transverse palmar crease, 2... |
OMIM:620098 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargement of parot... |
ORPHA:79078 |
| Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Caudal appendage, Single transverse palmar crease, Talipes equinovarus, Mi... |
OMIM:272950 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Growth delay, Bruxism, Upslanted palpebral fissure, Cryptorchidism, Epicanthus, Motor stereotypy,... |
OMIM:300260 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Hyperpigmentation of the skin, Mu... |
ORPHA:3214 |
| 5Q14.3 Microdeletion Syndrome |
|
Thick eyebrow, Motor stereotypy, Upslanted palpebral fissure |
ORPHA:228384 |
| Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Premature graying of hair, Hepatosplenomegaly, Pancytopenia, Cryptorch... |
OMIM:619488 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... |
ORPHA:101096 |
| Hoxha-Aliu Syndrome |
|
Short fifth metatarsal, Short distal phalanx of finger, Abnormal epiphysis morphology, Short 4th ... |
OMIM:620662 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly, Brachydactyly, Microphthalmia |
OMIM:618727 |
| 22Q11.2 Duplication Syndrome |
|
Growth delay, Aplasia/Hypoplasia of the thymus, Downslanted palpebral fissures, Displacement of t... |
ORPHA:1727 |
| Cenani-Lenz Syndactyly Syndrome |
|
Broad hallux, Radioulnar synostosis, Pulmonic stenosis, Hypoplasia of the radius, Hypoplasia of t... |
OMIM:212780 |
| Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ... |
OMIM:300963 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Toe syndactyly, Syndactyly |
OMIM:601163 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Aggressive behavior, Intrauterine growth retardation, Severe temper tantrums, Thrombocytopenia |
OMIM:617710 |
| Paroxysmal Hemicrania |
|
Restless legs, Conjunctival hyperemia, Ptosis, Palpebral edema, Rhinitis, Diabetes mellitus |
ORPHA:157835 |
| 9Q21.13 Microdeletion Syndrome |
|
Syringomyelia, Hip dysplasia, Aplasia/Hypoplasia of the corpus callosum, Polydactyly |
ORPHA:531151 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Downslanted palpebral fissures, Hypogonadism, Decreased testicular size, Epicanthus, Abnormal hai... |
ORPHA:85293 |
| Pterygium Of Conjunctiva And Cornea |
|
Pterygium, Abnormal conjunctiva morphology |
OMIM:178000 |
| Mucopolysaccharidosis, Type Iiic |
|
Coarse hair, Hypertrichosis, Splenomegaly, Hirsutism, Hyperactivity, Dysphagia, Synophrys |
OMIM:252930 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Lissencephaly, Dilated cardiomyopathy, Polymicrogyria, Type II lissencephaly, Hypoplasia of the b... |
OMIM:253800 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
| Letterer-Siwe Disease |
|
Hepatosplenomegaly, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, Anemia, Stomatitis |
OMIM:246400 |
| Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Preaxial polydactyly, Agenesis of corpus callosum, Cerebellar hypop... |
OMIM:243605 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Small hand, Hypoplasia of the corpus callosum, Microcephaly, Microphthalmia, Short foot, Short palm |
OMIM:241410 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Absence of lymph node ... |
ORPHA:79124 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent pneumonia, Polysplenia, Otitis media, Chronic sinusitis, Immotile sperm, Reduced sperm ... |
OMIM:613807 |
| White Forelock With Malformations |
|
Spina bifida occulta, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:2475 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... |
ORPHA:90797 |
| Lamb-Shaffer Syndrome |
|
Abnormal temper tantrums, Mild postnatal growth retardation, Epicanthus, Hyperactivity, Motor ste... |
ORPHA:530983 |
| Mucopolysaccharidosis, Type Iiia |
|
Coarse hair, Splenomegaly, Hirsutism, Hyperactivity, Synophrys |
OMIM:252900 |
| Potocki-Lupski Syndrome |
|
Oral-pharyngeal dysphagia, Downslanted palpebral fissures, Hypothyroidism, Hyperactivity, Short s... |
OMIM:610883 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Ectopia lentis, Downslanted palpebral fissures, Intrauterine growth retardation, Melanocytic nevu... |
OMIM:616914 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Toe syndactyly, Finger syndactyly, Cerebral calcification, Arachnodactyly, Microcephaly, Short palm |
ORPHA:73246 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Finger syndactyly, Branchial cyst, Single transverse palmar crease, Microcephaly, Camptodactyly, ... |
ORPHA:435938 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Hypogonadism, Intrauterine growth retardation, Thrombocytopenia, Micropenis, Gro... |
OMIM:300514 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Pancytopenia, Intrauterine growth retardation, Splenomegaly,... |
OMIM:614576 |
| Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy |
OMIM:616341 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Eczematoid dermatitis, Sparse body hair, Abnormal fingernail morphology, Abnormality of skin pigm... |
ORPHA:1810 |
| Alkuraya-Kucinskas Syndrome |
|
Hand clenching, Clinodactyly, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the brains... |
OMIM:617822 |
| Suleiman-El-Hattab Syndrome |
|
Clinodactyly, Single transverse palmar crease, Polydactyly, Microcephaly, Brachydactyly |
OMIM:618950 |
| Familial Exudative Vitreoretinopathy |
|
Microcephaly, Vitreous hemorrhage, Retinal neovascularization, Macular telangiectasia, Microphtha... |
ORPHA:891 |
| Seckel Syndrome 1 |
|
Clitoral hypertrophy, Downslanted palpebral fissures, Postnatal growth retardation, Pancytopenia,... |
OMIM:210600 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... |
ORPHA:90791 |
| Dermatitis Herpetiformis |
|
Microcytic anemia, Abnormality of the thyroid gland, Eczematoid dermatitis |
ORPHA:1656 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmented skin patches, Premature graying of hair, Hypogonadism, Abnormal eyebrow morphology,... |
ORPHA:163746 |
| Immune Thrombocytopenia |
|
Abnormal vaginal bleeding, Thrombocytopenia |
ORPHA:3002 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia |
OMIM:603585 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Conjunctivitis, Periorbital dermoid cyst, Lacrimal duct stenosis |
OMIM:615560 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... |
OMIM:613091 |
| Branchiogenic-Deafness Syndrome |
|
Branchial fistula, Branchial cyst, Submucous cleft hard palate |
OMIM:609166 |
| Relapsing Fever |
|
Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia |
ORPHA:91547 |
| Abetalipoproteinemia |
|
Acanthocytosis, Abnormality of retinal pigmentation, Reticulocytosis, Ptosis, Keratoconjunctiviti... |
ORPHA:14 |
| Biotinidase Deficiency |
|
Skin rash, Conjunctivitis, Alopecia, Eczematoid dermatitis |
ORPHA:79241 |
| Rothmund-Thomson Syndrome |
|
Sparse eyebrow, Hypopigmentation of the skin, Aplastic anemia, Small nail, Alopecia totalis, Mala... |
ORPHA:2909 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Recurrent otitis media, Asplenia, Male infertility |
OMIM:618948 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Broad distal phalanx of finger, Postaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydac... |
ORPHA:404440 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Hypothyroidism, Ptosis, Neutropenia |
OMIM:251900 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Hypoplasia of the brainstem, Type II lissencephaly, Microphthalmia, Encephalocele, Agenesis of co... |
OMIM:613150 |
| Idiopathic Aplastic Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
| Caroli Disease |
|
Cholelithiasis, Conjunctival icterus, Leukocytosis, Splenomegaly, Anorexia, Cholangitis, Liver ab... |
ORPHA:53035 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter |
OMIM:618718 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of the skin, Inappropriate laughter, Abnormal eating beha... |
ORPHA:98794 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Postnatal growth retardation, Epicanthus, Attention deficit hyperactivity disorder, Aggressive be... |
OMIM:620242 |
| Progeroid Short Stature With Pigmented Nevi |
|
Allergic rhinitis, Cataract, Allergic conjunctivitis, Chordee, Delayed puberty, Short stature, Pr... |
OMIM:176690 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Atopic dermatitis, Thrombocytopenia, Growth delay, Hypochromic microcytic anemia |
ORPHA:3240 |
| Schizophrenia 1 |
|
Short proximal phalanx of the 4th toe, Syndactyly |
OMIM:181510 |
| Blepharocheilodontic Syndrome 1 |
|
Cutaneous syndactyly, Clinodactyly, Neural tube defect |
OMIM:119580 |
| Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... |
OMIM:300200 |
| Yao Syndrome |
|
Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, ... |
OMIM:617321 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Galloway-Mowat Syndrome 3 |
|
Cerebral atrophy, Pachygyria, Hypoplasia of the corpus callosum, Arachnodactyly, Microcephaly, Mi... |
OMIM:617729 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Short thumb, Preaxial polydactyly, Radioulnar synostosis, Triphalangeal ... |
OMIM:192350 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Isolated Sedoheptulokinase Deficiency |
|
Hepatitis, Severe postnatal growth retardation, Shallow orbits, Hypochromic microcytic anemia, An... |
ORPHA:440713 |
| Bainbridge-Ropers Syndrome |
|
Precocious puberty, Highly arched eyebrow, Self-injurious behavior, Growth delay, Downslanted pal... |
OMIM:615485 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Abnormal corpus callosum morphology, Cerebral cortical atrophy, Toe syndactyly, Finger syndactyly... |
ORPHA:3224 |
| Behçet Disease |
|
Cataract, Anorexia, Recurrent aphthous stomatitis, Splenomegaly, Infectious encephalitis, Increas... |
ORPHA:117 |
| Acrofacial Dysostosis, Catania Type |
|
Small hand, Finger syndactyly, Bilateral single transverse palmar creases, Spina bifida occulta, ... |
ORPHA:1786 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty, Cataract, Motor stereotypy, Upslanted palpebral fissure |
OMIM:619877 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Short stature, Thrombocytopenia |
OMIM:616577 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Cornelia De Lange Syndrome 1 |
|
Pneumonia, Highly arched eyebrow, Microcornea, Self-injurious behavior, Hypoplastic male external... |
OMIM:122470 |
| Mend Syndrome |
|
Aortic valve stenosis, Broad hallux, Overlapping toe, Overlapping fingers, Hypoplasia of the corp... |
ORPHA:401973 |
| Monosomy 22 |
|
Hepatosplenomegaly, Epicanthus, Aplasia of the thymus, Seborrheic dermatitis, Narrow palpebral fi... |
ORPHA:96123 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Skin rash, Splenomegaly, Infectious encephalitis, Erythroderma, Lymphadenopathy... |
ORPHA:540 |
| Infant Botulism |
|
Mydriasis, Ptosis, Keratoconjunctivitis sicca, Anorexia, Dysphagia, Chronic otitis media |
ORPHA:178478 |
| Quebec Platelet Disorder |
|
Menorrhagia, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap |
OMIM:615761 |
| Aarskog-Scott Syndrome |
|
Small hand, Finger syndactyly, Congestive heart failure, Camptodactyly of finger, Umbilical herni... |
ORPHA:915 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Foot polydactyly, Aplasia/Hypoplasia of the thumb, Microcephaly, Hypoplasia of the radius, Hypopl... |
ORPHA:3186 |
| Dubowitz Syndrome |
|
Hypospadias, Short palpebral fissure, Aplastic anemia, Eczematoid dermatitis, Sparse lateral eyeb... |
OMIM:223370 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
| Joubert Syndrome 2 |
|
Abnormal corpus callosum morphology, Postaxial foot polydactyly, Hypoplasia of the brainstem, Enc... |
OMIM:608091 |
| Acrootoocular Syndrome |
|
Small hypothenar eminence, Short toe, Sandal gap, Short finger, Decreased palmar creases, Microce... |
ORPHA:2980 |
| Congenital Syphilis |
|
Pneumonia, Cataract, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Intrauterine gr... |
ORPHA:499009 |
| Trichinellosis |
|
Central retinal artery occlusion, Skin rash, Conjunctival hyperemia, Conjunctivitis, Anisocoria, ... |
ORPHA:863 |
| Nephronophthisis 9 |
|
Anemia, Postnatal growth retardation, Polydipsia |
OMIM:613824 |
| Reactive Arthritis |
|
Inflammation of the large intestine, Osteomyelitis, Recurrent aphthous stomatitis, Pustule, Dystr... |
ORPHA:29207 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Inappropriate behavior, Disinhibition, Aggressive behavior, Collectionism, ... |
ORPHA:275864 |
| Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells, Abscess, Retinal vasculitis, Thrombocytopeni... |
OMIM:615758 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Cataract, Decreased response to growth hormone stimulation test, Thick eyebrow, Central adrenal i... |
OMIM:616007 |
| Joubert Syndrome 21 |
|
Occipital encephalocele, Hypoplasia of the brainstem, Encephalocele, Anophthalmia, Hypoplasia of ... |
OMIM:615636 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
| Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
| Rubinstein-Taybi Syndrome 1 |
|
Broad thumb, Hypoplastic iliac wing, Agenesis of corpus callosum, Talipes equinovarus, Dislocated... |
OMIM:180849 |
| Rubinstein-Taybi Syndrome |
|
Highly arched eyebrow, Downslanted palpebral fissures, Telecanthus, Cryptorchidism, Generalized h... |
ORPHA:783 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Hypoplasia of the iris, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hemolytic ane... |
ORPHA:169090 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Postnatal growth retardation, Leukopenia, Intrauterine growth retard... |
OMIM:615190 |
| Koolen-De Vries Syndrome |
|
Cataract, Upslanted palpebral fissure, Cryptorchidism, Overfriendliness, Epicanthus, Ptosis, Hypo... |
ORPHA:96169 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Aplasia/Hypoplasia of the nails, Bilateral ptosis, Downslanted palpebral fissures, Absent gallbla... |
ORPHA:163979 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... |
OMIM:618278 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Intrauterine growth retardation, Inappropriate laughter, Stereotypical hand wringing, Birth lengt... |
OMIM:614104 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen |
OMIM:185070 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Loose anagen hair, Eczematoid dermatitis, Downslanted palpebral fissures, Multiple lentigines, Lo... |
OMIM:607721 |
| Bardet-Biedl Syndrome 6 |
|
Postaxial polydactyly, Syndactyly |
OMIM:605231 |
| Spermatogenic Failure 15 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... |
OMIM:616950 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Leukopenia, Thrombocytopenia, Anemia, Diabetes mellitus |
OMIM:613845 |
| Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
| Noonan Syndrome 1 |
|
Hypospadias, Juvenile myelomonocytic leukemia, Downslanted palpebral fissures, Hypogonadism, Post... |
OMIM:163950 |
| 3Q29 Microdeletion Syndrome |
|
Microcephaly, Pulmonary arterial hypertension, Macrocephaly, Microphthalmia, Clinodactyly of the ... |
ORPHA:65286 |
| Stolerman Neurodevelopmental Syndrome |
|
Telecanthus, Cryptorchidism, Epicanthus, Hypoplastic nipples, Hyperactivity, Hypermelanotic macul... |
OMIM:618505 |
| Night Blindness, Congenital Stationary, Type 1C |
|
Abnormality of skin pigmentation |
OMIM:613216 |
| Alg8-Cdg |
|
Anemia, Cataract, Intrauterine growth retardation, Thrombocytopenia |
ORPHA:79325 |
| Ermine Phenotype |
|
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... |
ORPHA:999 |
| Ebola Hemorrhagic Fever |
|
Hepatitis, Lymphopenia, Leukopenia, Dysphagia, Thrombocytopenia, Maculopapular exanthema, Acute p... |
ORPHA:319218 |
| Spermatogenic Failure 2 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... |
OMIM:108420 |
| Epithelial Recurrent Erosion Dystrophy |
|
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... |
ORPHA:293381 |
| Snakebite Envenomation |
|
Hypopituitarism, Neuromuscular dysphagia, Thrombocytopenia, Pseudobulbar paralysis |
ORPHA:449285 |
| Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:269920 |
| Preeclampsia |
|
Intrauterine growth retardation, Type I diabetes mellitus, Thrombocytopenia, Polycystic ovaries |
ORPHA:275555 |
| Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Hypoplastic female external genitalia, Pterygium, Multiple pterygia, Epicanthus, Hypoplastic nipp... |
OMIM:177980 |
| Hermansky-Pudlak Syndrome 6 |
|
Albinism, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Impaired arachidonic a... |
OMIM:614075 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Aplasia/hypoplasia of the humeru... |
ORPHA:3320 |
| Fraser Syndrome |
|
Toe syndactyly, Finger syndactyly, Umbilical hernia, Myelomeningocele, Wide pubic symphysis, Anop... |
ORPHA:2052 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Type I diabetes mellitus, Histiocytosis, Pancreatic hypoplasia, Downslanted palpebral fissures, D... |
OMIM:602782 |
| Pseudo-Torch Syndrome 3 |
|
Anemia, Lymphadenitis, Congenital thrombocytopenia, Leukocytosis |
OMIM:618886 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Clinodactyly, Bilateral microphthalmos, Umbilical hernia, Abnormality of the hand, Camptodactyly,... |
ORPHA:369891 |
| Craniosynostosis 2 |
|
Cleft soft palate, Supernumerary tooth |
OMIM:604757 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-3 toe cutaneous syndactyly, Cutaneous finger syndactyly, 2-4 finger syndactyly, 4-5 toe syndact... |
OMIM:613573 |
| Pagod Syndrome |
|
Encephalocele, Microcephaly, Arrhythmia, Spina bifida, Meningocele, Sudden cardiac death |
ORPHA:991 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Cerebellar hypoplasia, Microcephaly, Clinodactyly, Syndactyly |
OMIM:618087 |
| Cholesteryl Ester Storage Disease |
|
Adrenal calcification, Hepatosplenomegaly, Leukopenia, Hypersplenism, Splenomegaly, Adrenal insuf... |
OMIM:278000 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Tongue thrusting, Hypopigmentation of hair, ... |
ORPHA:98795 |
| Free Sialic Acid Storage Disease |
|
Iris hypopigmentation, Splenomegaly, Abnormality of skin pigmentation |
ORPHA:834 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Lentiglobus, Periodontitis, Cryptorchidism, Motor stereotypy, Chronic otitis media, Self-injuriou... |
ORPHA:534 |
| Von Willebrand Disease, Type 3 |
|
Menorrhagia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:277480 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone ossification, Abnormal... |
ORPHA:166119 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Colitis, Keratoconjunctivitis sicca, Growth delay, Iron deficiency anemia |
ORPHA:309031 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate |
ORPHA:166016 |
| Pick Disease Of Brain |
|
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition |
OMIM:172700 |
| Autosomal Dominant Keratitis |
|
Bilateral microphthalmos, Aniridia, Corneal neovascularization, Hypoplasia of the fovea, Macular ... |
ORPHA:2334 |
| 2Q37 Microdeletion Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Eczematoid dermatitis, Supernumerary nipple, Upslanted pal... |
ORPHA:1001 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Hypoplasia of the corpus callosum, Microcephaly, Long fingers, Microphthalmia, Dandy-Walker malfo... |
OMIM:156610 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hemophagocytosis, Pancytopenia, Hepatosplenomegaly, Leukopenia, Skin rash, Splenomegaly, Infectio... |
OMIM:603553 |
| Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Hypochromic anemia, Metrorrhagia, Refractory anemia, Menorrhagia |
ORPHA:99147 |
| Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
| Antisynthetase Syndrome |
|
Skin rash, Myositis, Keratoconjunctivitis sicca, Arthritis, Myocarditis, Dysphagia |
ORPHA:81 |
| Oculodentodigital Dysplasia |
|
Clinodactyly, 3-4 toe syndactyly, Basal ganglia calcification, Joint contracture of the 5th finge... |
OMIM:164200 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Fifth finger distal phalanx clinodactyly, Small hand, 2-4 toe cutaneous syndactyly, Broad long bo... |
OMIM:257850 |
| Nance-Horan Syndrome |
|
Short phalanx of finger, Broad finger, Microphthalmia |
OMIM:302350 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal reproductive system morphology, Hypopigmentation of hair, Dysphagia |
ORPHA:70472 |
| 22Q11.2 Deletion Syndrome |
|
Hypertensive crisis, Gastrointestinal hemorrhage, Umbilical hernia, Corneal neovascularization, A... |
ORPHA:567 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypothyroidism, Iron deficiency anemia, Thrombocytosis, Anemia, Growth delay |
OMIM:226300 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Multinodular goiter, Conjuncti... |
OMIM:618373 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
| Oculocutaneous Albinism Type 1A |
|
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... |
ORPHA:79431 |
| ERI1-related disease |
|
Tricuspid regurgitation, Slender metacarpals, Oligodactyly, Clinodactyly of the 5th finger, Limit... |
OMIM:608739 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... |
OMIM:300280 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanx of the hallux, Agenesis of corpus callosum, Aplasia of the distal p... |
ORPHA:3472 |
| Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... |
OMIM:263400 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitatio... |
ORPHA:2556 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Abnormal me... |
ORPHA:3429 |
| Neurofibromatosis, Type I |
|
Tibial pseudarthrosis, Genu valgum, Hydrocephalus, Spina bifida, Macrocephaly, Aqueductal stenosi... |
OMIM:162200 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Charge Syndrome |
|
Bifid femur, Umbilical hernia, Abnormal tibia morphology, Anophthalmia, Polydactyly, Microcephaly... |
ORPHA:138 |
| Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid g... |
ORPHA:99867 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Self-mutilation... |
ORPHA:457240 |
| Buratti-Harel Syndrome |
|
Bifid uvula, High palate, Velopharyngeal insufficiency, Submucous cleft hard palate |
OMIM:619314 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Inflammation of the large intestine, Reduced natural kill... |
OMIM:301074 |
| Pfeiffer Syndrome Type 2 |
|
Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus,... |
ORPHA:93259 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Abnormal pelvic girdle bone morphology, Rhizomelia, Hemiatrophy, Stippled calcification in carpal... |
OMIM:302960 |
| Caroli Syndrome |
|
Conjunctival icterus, Hypersplenism, Leukopenia, Leukocytosis, Pancreatitis, Thrombocytopenia, Ab... |
ORPHA:480520 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Recurrent otitis media, Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Low posterior ... |
ORPHA:1772 |
| Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Agenesis of cerebellar vermis, Encephalocele, Agenesis of corpus callosum |
ORPHA:228390 |
| Insulin-Like Growth Factor I Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation, Ptosis, Decreased serum insulin-li... |
OMIM:608747 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Dural ectasia, Prominent fingertip pads, Cardiomyopathy, Hand muscle atrophy, Agenesis of corpus ... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Dural ectasia, Prominent fingertip pads, Cardiomyopathy, Hand muscle atrophy, Agenesis of corpus ... |
ORPHA:363958 |
| Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Chilblains, Self-mutilation, Hypothyroidism, Thrombocytopenia, Short stature, Diabe... |
OMIM:225750 |
| Cockayne Syndrome |
|
Lentiglobus, Dry hair, Absence of pubertal development, Postnatal growth retardation, Cryptorchid... |
ORPHA:191 |
| Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Subdural hemorrhage, Clinodactyly, Single transverse palmar crease,... |
OMIM:311900 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Peutz-Jeghers Syndrome |
|
Uterine neoplasm, Ovarian cyst, Iron deficiency anemia, Hypermelanotic macule, Neoplasm of the pa... |
OMIM:175200 |
| Spermatogenic Failure 38 |
|
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... |
OMIM:618433 |
| Overlap Myositis |
|
Rheumatoid arthritis, Leukopenia, Dysphagia, Thrombocytopenia, Arthritis, Diabetes mellitus |
ORPHA:206572 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatitis, Absence of lymph node germinal center, Hemolytic anemia, Enteroviral encephalitis, Scl... |
OMIM:308230 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Toe clinodactyly, Finger syndactyly, Sandal gap, Mitral regurgitation, Hypo... |
ORPHA:254346 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Cataract, Recurrent pneumonia, Rhizomelia, Leukopenia, Intrauterine growth retardation, Neutropen... |
OMIM:616271 |
| Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Bone marrow hypocellularity, Pancytopenia, Nail dystrophy, Abnormality of skin pigmentation |
OMIM:613988 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hemophagocytosis, Leukopenia, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Thrombocyto... |
OMIM:267700 |
| Cockayne Syndrome Type 3 |
|
Lentiglobus, Cataract, Microcornea, Dry hair, Premature graying of hair, Mild postnatal growth re... |
ORPHA:90324 |
| Smith-Magenis Syndrome |
|
Precocious puberty, Self-injurious behavior, Microcornea, Upslanted palpebral fissure, Attention ... |
ORPHA:819 |
| Pfeiffer Syndrome |
|
Broad thumb, Synostosis of carpal bones, Finger syndactyly, Brachydactyly, Hip dysplasia, Clinoda... |
ORPHA:710 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Preaxial polydacty... |
ORPHA:90652 |
| Diffuse Alveolar Hemorrhage |
|
Anemia, Leukocytosis, Thrombocytopenia |
ORPHA:90060 |
| Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... |
OMIM:618086 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Eczematoid dermatitis, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
| Ciliary Dyskinesia, Primary, 9 |
|
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... |
OMIM:612444 |
| Carney Complex, Type 1 |
|
Pituitary adenoma, Multiple lentigines, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular h... |
OMIM:160980 |
| Insulin-Resistance Syndrome Type B |
|
Pneumonia, Nephritis, Alopecia, Abnormal circulating leptin concentration, Insulin-resistant diab... |
ORPHA:2298 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Osteomyelitis, Hypochromic microcytic anemia, Arthritis, Septic arthritis, Short stature |
OMIM:619423 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Iron deficiency anemia, Splenomegaly |
OMIM:616278 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Thick vermilion border, High pal... |
OMIM:618106 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Cholelithiasis, Hypopigmentation of the skin, Myopic astigmatism, Downslanted... |
OMIM:301066 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of the olfactory bulb, Anophthalmia, Microphthalmia |
ORPHA:2250 |
| Galloway-Mowat Syndrome 1 |
|
Hand clenching, Joint contracture of the hand, Slender finger, Cerebral atrophy, Pachygyria, Seco... |
OMIM:251300 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, 2-3 toe syndactyly, Radioulnar synostosis, Microcephaly, Brachyd... |
OMIM:614701 |
| Muenke Syndrome |
|
Hypopigmentation of hair, Ptosis, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Bronchiectasis, Chronic otitis media, Recurrent sinusitis, Male infertility |
OMIM:300991 |
| Albinism, Oculocutaneous, Type Ia |
|
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... |
OMIM:203100 |
| Rothmund-Thomson Syndrome, Type 3 |
|
Short distal phalanx of finger, Hypoplasia of the corpus callosum, Talipes equinovarus, Microceph... |
OMIM:615789 |
| Sunct Syndrome |
|
Conjunctival hyperemia, Ptosis, Palpebral edema, Restlessness, Agitation |
ORPHA:57145 |
| Lacrimoauriculodentodigital Syndrome |
|
Abnormal lacrimal duct morphology, Lacrimal duct aplasia, Hypoplasia of the lacrimal punctum, Cor... |
ORPHA:2363 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Finger syndactyly, Aplasia of the proximal phalanges of the hand, Hypoplasia of the ulna, Short l... |
ORPHA:2256 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris |
OMIM:604229 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Autoimmune thrombocytopeni... |
ORPHA:391487 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, Microcephaly, Brac... |
ORPHA:1005 |
| Schilbach-Rott Syndrome |
|
Bifid uvula, Narrow mouth, Submucous cleft hard palate |
OMIM:164220 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Downslanted palpebral fissures, Postnatal growth retardation, Long eyelashes, Thick eyebrow, Self... |
OMIM:212066 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Fine hair, Leukopenia, Splenomegaly, Pancreatitis, Thrombocytopenia, Anemia, Sp... |
OMIM:222700 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Osteomyelitis, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:259700 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Bone marrow hypocellularity, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:210136 |
| Tangier Disease |
|
Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Nail dystrophy, Anemia, Thrombocytopen... |
ORPHA:31150 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Highly arched eyebrow, Juvenile myelomonocytic leukemia, Fine hair, Downslanted palpebral fissure... |
OMIM:613563 |
| Q Fever |
|
Pneumonia, Granuloma, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Cholecystitis, Splenomegaly, ... |
ORPHA:781 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypochromic anemia, Elevated circulating parathyroid hormone level, Postnatal growth retardation,... |
ORPHA:289157 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Polymicrogyria, Unilateral microphthalmos, Microcephaly, Adducted thumb, Macrocephaly |
OMIM:618874 |
| Hermansky-Pudlak Syndrome 7 |
|
Albinism, Impaired platelet aggregation, Menorrhagia, Ocular albinism |
OMIM:614076 |
| Hepatoportal Sclerosis |
|
Hypersplenism, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia |
ORPHA:64743 |
| Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Finger clinodactyly, Preaxial polydactyly, Aplasia/Hypoplasia of th... |
ORPHA:2754 |
| Cenani-Lenz Syndrome |
|
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Short thumb, Ol... |
ORPHA:3258 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Short stature, Moto... |
OMIM:617695 |
| Conotruncal Heart Malformations |
|
Postaxial polydactyly, Broad hallux |
OMIM:217095 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Umbilical hernia, Encephalocele, Cerebellar hypoplasia... |
ORPHA:2166 |
| Mend Syndrome |
|
Aortic valve stenosis, Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe s... |
OMIM:300960 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Broad thumb, Camptodactyly of finger, Bilateral single transverse palmar creases, Microcephaly, M... |
ORPHA:1236 |
| Bartsocas-Papas Syndrome 1 |
|
Small nail, Alopecia totalis, Absent eyelashes, Cicatricial lagophthalmos, Hypoplastic labia majo... |
OMIM:263650 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Splenomegaly, Abnormal retinal vascular morphology, Lymphadenopathy, Anorexia,... |
ORPHA:33226 |
| Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Aplasia/Hypoplasia... |
ORPHA:1647 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Growth delay, Polycythemia |
OMIM:250800 |
| Kleefstra Syndrome 1 |
|
Upslanted palpebral fissure, Cryptorchidism, Compulsive behaviors, Motor stereotypy, Aggressive b... |
OMIM:610253 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Mydriasis, Growth delay, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocyt... |
OMIM:259720 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Pneumonia, Normocytic anemia, Skin rash, Abnormal retinal vascular morphology, Retinal neovascula... |
ORPHA:247691 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hyperechogenic pancreas, Thrombocytopenia, Neutropenia, Short stature |
OMIM:617941 |
| Klippel-Trenaunay-Weber Syndrome |
|
Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly |
OMIM:149000 |
| Hijazi-Reis Syndrome |
|
Motor stereotypy, Iris coloboma, Astigmatism, Postnatal growth retardation |
OMIM:301094 |
| Adult Syndrome |
|
Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Melanocytic nevus, Fing... |
ORPHA:978 |
| Primary Dystonia, Dyt13 Type |
|
Motor stereotypy |
ORPHA:98807 |
| Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Atrioventricular dissociat... |
OMIM:142900 |
| Microphthalmia, Syndromic 9 |
|
Bilateral microphthalmos, Anophthalmia, Pulmonic stenosis |
OMIM:601186 |
| Axial Mesodermal Dysplasia Spectrum |
|
Short stature, Abnormality of the spleen, Limbal dermoid, Abnormal morphology of female internal ... |
ORPHA:1834 |
| Zygomycosis |
|
Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Peritonitis, Enterocolitis, Sinus... |
ORPHA:73263 |
| Oliver Syndrome |
|
Postaxial foot polydactyly, Short toe, Prominent fingertip pads, Camptodactyly of finger, Elbow f... |
ORPHA:2920 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Short stature, Motor stereotypy |
ORPHA:280763 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Alopecia, Periodontitis, Bilateral ptosis, Astigmatism, Cryptorchidism, Keratoconjunctivitis sicc... |
ORPHA:536532 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... |
OMIM:187900 |
| Polysyndactyly With Cardiac Malformation |
|
Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly |
OMIM:263630 |
| Tafro Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Elevat... |
ORPHA:457077 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion |
OMIM:614702 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Hypogonadism, Hepatosplenomegaly, Anemia, Lymphadenopathy, Oligoz... |
ORPHA:85450 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Inappropriate behavior, Disinhibition, Aggressive behavior, Restlessness, Motor stereotypy |
OMIM:600795 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Tricuspid regurgitation, Arachnodactyly, Bowing of the long bones, Microcephaly, Pulmonary arteri... |
OMIM:614437 |
| Joubert Syndrome 39 |
|
Postaxial polydactyly, Cerebellar vermis hypoplasia, Occipital encephalocele, Joint contracture o... |
OMIM:619562 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia |
ORPHA:79096 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of finger, Abnormal m... |
ORPHA:284160 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Pachygyria, Microcephaly, Finger syndactyly, Hypoplasia of the corpus callosum |
ORPHA:66629 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Hyperactivity, Abnormal T cell morphology, Decreased pr... |
ORPHA:760 |
| Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Hypertrichosis, Leukopenia, Reticulocytosis, Neutropenia, Thro... |
ORPHA:2330 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Cone-shaped epiphysis, Open op... |
ORPHA:397715 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis |
OMIM:253250 |
| Limited Cutaneous Systemic Sclerosis |
|
Dysphagia, Hypopigmented skin patches, Abnormality of skin pigmentation |
ORPHA:220402 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Eversion of lateral third of lower eyelids, Highly arched eyebrow, Sparse eyebrow, Downslanted pa... |
ORPHA:487796 |
| Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Intrauterine growth retardation, Acanthocytosis, Upslanted palpebral fissure, ... |
OMIM:618947 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Microcephaly, Simplified gyral pattern |
OMIM:152950 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Tortuosity of conjunctival vessels |
OMIM:613728 |
| Hermansky-Pudlak Syndrome 8 |
|
Silver-gray hair, Albinism, Myopic astigmatism, Ocular albinism, Astigmatism, Blue irides, Genera... |
OMIM:614077 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Systemic Lupus Erythematosus |
|
Discoid lupus rash, Alopecia, Anorexia, Leukopenia, Malar rash, Lupus nephritis, Lymphadenopathy,... |
ORPHA:536 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Pulmonic stenosis, Hydrocephalus, Dandy-Walker malformation, Syndactyly |
OMIM:220210 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Microcephaly, Macrocephaly, Spina b... |
ORPHA:2311 |
| Plasminogen Deficiency, Type I |
|
Conjunctivitis, Nephritis, Periodontitis |
OMIM:217090 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Bilateral ptosis, Epicanthus, Thrombocytopenia, Anemia, Short stature |
OMIM:619743 |
| Alg12-Cdg |
|
Recurrent pneumonia, Small nail, Intrauterine growth retardation, Cryptorchidism, Chronic rhiniti... |
ORPHA:79324 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Cerebellar vermis hypoplasia, Micromelia, Preaxial polydactyly, Polymicrogyria... |
OMIM:616546 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Large placenta, Sma... |
ORPHA:96334 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Central hypothyroidism, Bulimia, Downslanted palpebral fissures, Bruxism, Stereotypical body rock... |
OMIM:300912 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Red eye, Cataract, Posterior uveitis, Nongranulomatous uveitis, Posterior synechiae of the anteri... |
ORPHA:91500 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Supernumerary lacrimal punctum, Elevated circulating luteinizing hormone level, Lacrimal gland hy... |
ORPHA:572333 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Pancreatitis, Thrombocytopenia, Neutropenia, Tubulointerstitial nephritis |
OMIM:251000 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Hepatomegaly |
OMIM:212140 |
| Hermansky-Pudlak Syndrome 1 |
|
Inflammation of the large intestine, Hypopigmentation of the skin, Ocular albinism, Melanocytic n... |
OMIM:203300 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Supernumerary nipple, Upslanted palpebral fissure, Overfriendliness, Epicanthus, Motor stereotypy |
OMIM:616579 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Micromelia, Brachydactyly, Split hand, Finger syndactyly |
ORPHA:2145 |
| Eisenmenger Syndrome |
|
Bacterial endocarditis, Increased mean corpuscular volume, Brain abscess, Iron deficiency anemia,... |
ORPHA:97214 |
| Warburg Micro Syndrome 4 |
|
Cerebral cortical atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Microphthal... |
OMIM:615663 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Hypo... |
OMIM:236670 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Decreased growth ho... |
OMIM:609734 |
| Brittle Cornea Syndrome 1 |
|
Keratoconus, Abnormal cornea morphology, Epicanthus, Decreased corneal thickness, Red hair, Kerat... |
OMIM:229200 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Uveitis, Anorexia, Lymphopenia, Abnormal lymphocyte morpho... |
ORPHA:99826 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, A... |
ORPHA:158048 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Agenesis of corpus callosum, Ventricular tac... |
OMIM:300952 |
| Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Hypoplastic iris stroma, Spina bifida |
OMIM:193500 |
| Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
| Gaucher Disease |
|
Splenic infarction, Cholelithiasis, Hepatitis, Cherry red spot of the macula, Osteomyelitis, Panc... |
ORPHA:355 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Unilateral cleft palate, Unilateral cleft lip, Submucous cleft hard palate |
OMIM:619122 |
| Sacral Defect With Anterior Meningocele |
|
Dermal sinus tract, Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Bilateral talipes... |
OMIM:600145 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
| Catastrophic Antiphospholipid Syndrome |
|
Microangiopathic hemolytic anemia, Retinal arterial occlusion, Coombs-positive hemolytic anemia, ... |
ORPHA:464343 |
| Ogden Syndrome |
|
Palpebral thickening, Recurrent otitis media, Postnatal growth retardation, Cryptorchidism, Epica... |
OMIM:300855 |
| Fanconi Anemia, Complementation Group N |
|
Absent thumb, Short thumb, Microcephaly, Hypoplasia of the radius, Microphthalmia |
OMIM:610832 |
| Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
| Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Lymphocytosis, Hypothyroidi... |
ORPHA:1667 |
| Kleefstra Syndrome |
|
Self-injurious behavior, Highly arched eyebrow, Supernumerary nipple, Upslanted palpebral fissure... |
ORPHA:261494 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Motor stereotypy, Upslanted palpebral fissure |
OMIM:613443 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia |
ORPHA:90647 |
| Aceruloplasminemia |
|
Blepharospasm, Abnormal pancreas morphology, Abnormality of retinal pigmentation, Hypochromic mic... |
ORPHA:48818 |
| Dengue Fever |
|
Leukopenia, Skin rash, Thrombocytopenia |
ORPHA:99828 |
| Filippi Syndrome |
|
Finger syndactyly, Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Micro... |
ORPHA:3255 |
| Arthrogryposis, Distal, Type 3 |
|
Bifid uvula, High palate, Cleft palate, Submucous cleft hard palate |
OMIM:114300 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Clinodactyly, Cardiomyopathy, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, B... |
OMIM:217980 |
| Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Clinodactyly, Radial deviation of finger, Cerebral atrophy, Myelomeni... |
OMIM:311200 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Metrorrhagia, Abnormal spleen morphology, Thrombocytopenia, Ane... |
ORPHA:464329 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Hypoplasia of the corpus callosum, Syndactyly, Microphthalmia, Camptodactyly, Short metacarpal, A... |
OMIM:614230 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:260400 |
| Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Hip dysplasia |
ORPHA:494344 |
| Cree Impaired Intellectual Development Syndrome |
|
Cleft soft palate |
OMIM:606851 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Attention deficit hyperactivity disorder, Motor stereotypy, Cryptorchidism |
OMIM:618504 |
| Neuroblastoma |
|
Elevated circulating catecholamine level, Horner syndrome, Thrombocytopenia, Lymphadenopathy, Anemia |
ORPHA:635 |
| Kindler Syndrome |
|
Symblepharon, Periodontitis, Spotty hyperpigmentation, Ridged nail, Phimosis, Spotty hypopigmenta... |
OMIM:173650 |
| Oculoauriculofrontonasal Syndrome |
|
Upper eyelid coloboma, Limbal dermoid |
ORPHA:398156 |
| Lopes-Maciel-Rodan Syndrome |
|
Motor stereotypy, Bruxism, Dysphagia, Agitation |
OMIM:617435 |
| Kbg Syndrome |
|
Microcephaly, Cutaneous syndactyly, Single transverse palmar crease, Finger clinodactyly |
ORPHA:2332 |
| Distal Duplication 17Q |
|
Accessory spleen, Severe short stature, Rhizomelia, Cryptorchidism, Low posterior hairline, Epica... |
ORPHA:3379 |
| W Syndrome |
|
Agenesis of maxillary central incisor, Upper lip pit, Broad uvula, Submucous cleft hard palate |
ORPHA:2804 |
| Lethal Acantholytic Erosive Disorder |
|
Hypovolemic shock, Cardiomyopathy, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndac... |
ORPHA:158687 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Epicanthus, Aggressive behavior, Hyperactivity, Compulsive behaviors, Motor stereotypy |
OMIM:618430 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, 2-5 finge... |
ORPHA:468631 |
| Hermansky-Pudlak Syndrome 10 |
|
Albinism, Splenomegaly, Neutropenia, Ocular albinism |
OMIM:617050 |
| Erythermalgia, Primary |
|
Keratoconjunctivitis sicca |
OMIM:133020 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,... |
ORPHA:1071 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia |
OMIM:619463 |
| Alkaptonuria |
|
Irregular hyperpigmentation, Black pigment gallstones, Methemoglobinemia, Prostatitis, Corneal as... |
ORPHA:56 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol... |
ORPHA:1323 |
| Glucagonoma |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:97280 |
| Miller-Dieker Lissencephaly Syndrome |
|
Joint contracture of the hand, Midline brain calcifications, Pachygyria, Single transverse palmar... |
OMIM:247200 |
| Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal neovascularization, Microphthalmia |
OMIM:193220 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Skin rash, Thrombocytopenia |
OMIM:253270 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Cataract, Ptosis, Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Dyspha... |
OMIM:157640 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the pelvis, Agenesis of corpus callosum, Hydrocephalus, Microphthalm... |
ORPHA:3301 |
| Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Genu valgum, Limb undergrowth |
OMIM:619142 |
| 1Q41Q42 Microdeletion Syndrome |
|
Cleft palate, Submucous cleft hard palate, Thick vermilion border |
ORPHA:250999 |
| Acrocardiofacial Syndrome |
|
Cerebral cortical atrophy, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Mitral ste... |
ORPHA:2008 |
| Fetal Alcohol Syndrome |
|
Microcephaly, Biparietal narrowing, Microphthalmia |
ORPHA:1915 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent pneumonia, Absent natural killer cells, Rectovaginal fistula, Lymphopenia, Hepatospleno... |
ORPHA:35078 |
| White-Sutton Syndrome |
|
Self-injurious behavior, Downslanted palpebral fissures, Intrauterine growth retardation, Astigma... |
OMIM:616364 |
| 7Q11.23 Microduplication Syndrome |
|
Self-injurious behavior, Hypospadias, Horizontal eyebrow, Growth delay, Aplasia/hypoplasia of the... |
ORPHA:96121 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Nail dystrophy |
OMIM:620502 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Iron deficiency anemia, Glomerulonephritis |
ORPHA:99931 |
| Charge Syndrome |
|
Bifid femur, Short thumb, Umbilical hernia, Unilateral microphthalmos, Microphthalmia, Anophthalm... |
OMIM:214800 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
| Apert Syndrome |
|
Delayed epiphyseal ossification, Broad distal phalanx of the thumb, Broad thumb, Synostosis of ca... |
OMIM:101200 |
| Bacterial Toxic-Shock Syndrome |
|
Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Skin rash, Abscess, Infectious encephalitis, Myos... |
ORPHA:36234 |
| Loeys-Dietz Syndrome 5 |
|
Bifid uvula, Cleft soft palate, Tented upper lip vermilion, Hiatus hernia, Eosinophilic infiltrat... |
OMIM:615582 |
| Tukel Syndrome |
|
Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly |
OMIM:609428 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... |
ORPHA:137675 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Premature adrenarche, Recurrent otitis media, Cryptorchidism, Epiblepharon, Narrow palpebral fiss... |
OMIM:620450 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Tooth abscess, Iron deficiency anemia, Growth delay |
ORPHA:89937 |
| Meckel Syndrome, Type 1 |
|
Cerebral hypoplasia, Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Radial de... |
OMIM:249000 |
| Timothy Syndrome |
|
Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Cutaneous synda... |
OMIM:601005 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Bacterial endocarditis, Cholelithiasis, Abnormal temper tantrums, Abnormality of the spleen, Hepa... |
ORPHA:2072 |
| Hennekam-Beemer Syndrome |
|
Pneumonia, Mastocytosis, Irregular hyperpigmentation, Generalized hyperpigmentation, Upslanted pa... |
ORPHA:2135 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Highly arched eyebrow, Inappropriate laughter, Upslanted palpebral fissure, Low anterior hairline... |
OMIM:615802 |
| Rift Valley Fever |
|
Hepatitis, Skin rash, Infectious encephalitis, Retinal vasculitis, Thrombocytopenia, Anorexia, An... |
ORPHA:319251 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Dysphagia, Disinhibition |
OMIM:612069 |
| Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia... |
OMIM:184705 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Camptodactyly, Syndactyly |
OMIM:616006 |
| Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
| Ciliary Dyskinesia, Primary, 45 |
|
Bronchiectasis, Male infertility, Chronic rhinitis |
OMIM:618801 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Bone marrow hypocellularity, Alopecia, Intrauterine growth retardation, Nail dystrophy, Abnormali... |
OMIM:616353 |
| Congenital Primary Aphakia |
|
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... |
ORPHA:83461 |
| Fumarase Deficiency |
|
Polycythemia, Conjunctival icterus, Necrotizing enterocolitis |
OMIM:606812 |
| Igg4-Related Ophthalmic Disease |
|
Prostatitis, Abnormality of the anterior pituitary, Abnormal lacrimal gland morphology, Abnormali... |
ORPHA:449563 |
| Darier Disease |
|
Abnormal hair morphology, Subungual hyperkeratotic fragments, Abnormality of skin pigmentation, H... |
ORPHA:218 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Growth delay, Thrombocytopenia |
OMIM:614946 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Pigmentary retinopathy, Dysphagia, Aspiration pneumonia |
ORPHA:79264 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Growth delay, Downslanted palpebral fissures, Epicanthus, Blepharophimosis, Palpebral edema, Moto... |
ORPHA:261144 |
| Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Megalocornea, Epicanthus, Attention deficit hyperactivity disorder, Moto... |
OMIM:618354 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Aplasia/Hypoplasia involving... |
OMIM:308050 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612926 |
| Pseudo-Torch Syndrome 1 |
|
Cataract, Opacification of the corneal stroma, Splenomegaly, Thrombocytopenia |
OMIM:251290 |
| Bohring-Opitz Syndrome |
|
Short toe, Hypoplasia of the brainstem, Overlapping toe, Mesomelic/rhizomelic limb shortening, Hy... |
OMIM:605039 |
| Johanson-Blizzard Syndrome |
|
Clitoral hypertrophy, Frontal upsweep of hair, Cryptorchidism, Micropenis, Rectovaginal fistula, ... |
OMIM:243800 |
| Ménétrier Disease |
|
Anorexia, Hypochromic microcytic anemia, Giant hypertrophic gastritis |
ORPHA:2494 |
| Gaucher Disease, Type Ii |
|
Splenomegaly, Thrombocytopenia, Anemia, Recurrent aspiration pneumonia, Dysphagia |
OMIM:230900 |
| Branchio-Oculo-Facial Syndrome |
|
Cataract, Microcornea, Premature graying of hair, Fingernail dysplasia, Intrauterine growth retar... |
ORPHA:1297 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Rheumatoid arthritis, Keratoconjunctivitis sicca |
OMIM:270150 |
| Mycophenolate Mofetil Embryopathy |
|
Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Foot polydactyly, Short palm |
ORPHA:268249 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Cerebral cortical atrophy, Abnormal cortical gyration, Cessation of head growth, Single transvers... |
OMIM:617527 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly |
OMIM:619736 |
| Acquired Purpura Fulminans |
|
Skin rash, Thrombocytopenia |
ORPHA:49566 |
| Micro Syndrome |
|
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosu... |
ORPHA:2510 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia, Menorrhagia |
OMIM:620484 |
| Coffin-Siris Syndrome |
|
Prominent eyelashes, Small nail, Growth delay, Aspiration pneumonia, Hypertrichosis, Postnatal gr... |
ORPHA:1465 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Myhre Syndrome |
|
Aortic valve stenosis, Cone-shaped epiphysis, Clinodactyly, Short toe, Short finger, Radial devia... |
OMIM:139210 |
| Adams-Oliver Syndrome 5 |
|
Umbilical hernia, Pulmonary arterial hypertension, Brachydactyly, Pulmonic stenosis, Syndactyly |
OMIM:616028 |
| Kenny-Caffey Syndrome, Type 2 |
|
Basal ganglia calcification, Macrocephaly, Abnormality of the medullary cavity of the long bones,... |
OMIM:127000 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Pectoral muscle hypoplasi... |
ORPHA:306542 |
| Monosomy 9Q22.3 |
|
Palmar pits, Umbilical hernia, Macrocephaly, Calcification of falx cerebri, Polydactyly, Hydrocep... |
ORPHA:77301 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Anoperineal fistula, Leukocytosis, Pancolitis, Eosinophilic infiltration of t... |
OMIM:618213 |
| Pitt-Hopkins Syndrome |
|
Self-injurious behavior, Supernumerary nipple, Sparse medial eyebrow, Frontal upsweep of hair, Up... |
OMIM:610954 |
| Ciliary Dyskinesia, Primary, 34 |
|
Recurrent sinusitis, Chronic rhinitis, Immotile sperm, Bronchiectasis, Male infertility |
OMIM:617091 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612924 |
| Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Growth delay, Oral-pharyngeal dysphagia, Short stature, Motor stereotypy |
ORPHA:208447 |
| Platelet Disorder, Undefined |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
| Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Cervical lymphadenopat... |
ORPHA:3260 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612925 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Long eyelashes, Motor stereotypy, Dysphagia, Myopic astigmatism |
OMIM:617802 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Blepharospasm, Phonic tics, Pigmentary retinopathy, Acanthocytosis, Obsessive-compulsive trait, H... |
OMIM:234200 |
| Digeorge Syndrome |
|
Acne, Recurrent otitis media, Ovarian cyst, Posterior embryotoxon, Blepharophimosis, Short palpeb... |
OMIM:188400 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Bitot spots of the conjunctiva |
OMIM:277350 |
| Snijders Blok-Campeau Syndrome |
|
Epicanthus, Attention deficit hyperactivity disorder, Motor stereotypy, Astigmatism |
OMIM:618205 |
| Premature Aging Syndrome, Penttinen Type |
|
Short distal phalanx of finger, Slender long bone, Tibial bowing, Flexion contracture of finger, ... |
OMIM:601812 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Intrauterine growth retardation, Splenomegaly, Thrombocytopenia, Anemia, Dysp... |
OMIM:608013 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion |
OMIM:239850 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Anemia, Hypothyroidism, Growth delay, Hypochromic microcytic anemia |
OMIM:619147 |
| Kabuki Syndrome 1 |
|
Anoperineal fistula, Recurrent otitis media, Postnatal growth retardation, Cryptorchidism, Microp... |
OMIM:147920 |
| Silver-Russell Syndrome 1 |
|
Clinodactyly of the 5th finger, Short distal phalanx of the 5th finger, Short middle phalanx of t... |
OMIM:180860 |
| Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615842 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia, Dysphagia, Normochromic anemia |
OMIM:254900 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Absent septum pellucidum, Single transverse palmar crease, Histio... |
OMIM:309801 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Recurrent pneumonia, Astigmatism, Persistence of hemoglobin F |
OMIM:619769 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Velopharyngeal insufficiency, Hamartoma of tongue, Peg-shaped maxillary lateral inci... |
ORPHA:2751 |
| Bardet-Biedl Syndrome 1 |
|
Postaxial foot polydactyly, Radial deviation of finger, Macrocephaly, Postaxial polydactyly, Brac... |
OMIM:209900 |
| Acrofacial Dysostosis, Palagonia Type |
|
Spina bifida occulta, Short 4th metacarpal, Small hand, Finger syndactyly |
ORPHA:1787 |
| Lymphoid Interstitial Pneumonia |
|
Rheumatoid arthritis, Eczematoid dermatitis, Skin rash, Keratoconjunctivitis sicca, Mediastinal l... |
ORPHA:79128 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida, Partial agenesis of the corpus callosum, Thin corpus callosum, Tethered cord, Taper... |
OMIM:619480 |
| Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Postnatal growth retardation, Abnormal erythrocyte morphology, Co... |
ORPHA:288 |
| Vipoma |
|
Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ... |
ORPHA:97282 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, 2-4 toe syndactyly, Sandal gap, Postaxial polydactyly, 2-3 toe syndactyly, Brachydact... |
OMIM:614099 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Self-mutilation, Epicanthus, Attention deficit hyperactivity disorder, Aggressive behavior, Conge... |
ORPHA:476126 |
| Crane-Heise Syndrome |
|
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... |
ORPHA:1512 |
| Lujo Hemorrhagic Fever |
|
Lymphopenia, Leukopenia, Leukocytosis, Skin rash, Maculopapular exanthema, Thrombocytopenia, Myoc... |
ORPHA:319213 |
| Cantú Syndrome |
|
Short distal phalanx of finger, Finger syndactyly, Umbilical hernia, Hypertrophic cardiomyopathy,... |
ORPHA:1517 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microcephaly, Anophthalmia, Microphthalmia |
ORPHA:2526 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Recurrent otitis media, Recurrent hand flappin... |
ORPHA:449291 |
| Aromatase Deficiency |
|
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... |
ORPHA:91 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Small scrotum, Popliteal pterygium, Ankyloblepharon, Bifid scrotum, Cryptorchidism, Generalized h... |
ORPHA:1300 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Cerebral cortical atrophy, Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the h... |
OMIM:151050 |
| Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Microphthalmia |
ORPHA:85194 |
| Achalasia, Familial Esophageal |
|
Rheumatoid arthritis, Keratoconjunctivitis sicca |
OMIM:200400 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Type I diabetes mellitus, Pterygium, Hirsutism, Polycystic ovaries, Nodular goiter, Premature the... |
ORPHA:371428 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, Anteriorly placed anus, Long philtrum, Submucous cleft hard palate, Thin upp... |
OMIM:612863 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Motor stereotypy, Shawl scrotum |
ORPHA:85277 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Overlapping toe, Overlapping fingers, Long toe, Cutaneous syndactyly, Long fingers, Macrocephaly |
OMIM:618316 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... |
OMIM:620642 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Overlapping toe, Inferior cerebellar vermis hypoplasia, Microphthalmia |
OMIM:618571 |
| Alport Syndrome 1, X-Linked |
|
Nephritis, Anterior lenticonus, Lenticonus, Developmental cataract, Thrombocytopenia, Hypoparathy... |
OMIM:301050 |
| Craniofrontonasal Syndrome |
|
Axillary pterygium, Downslanted palpebral fissures, Breast hypoplasia, Telecanthus, Ridged nail, ... |
OMIM:304110 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Otoonychoperoneal Syndrome |
|
Abnormality of the nail, Popliteal pterygium, Upslanted palpebral fissure |
ORPHA:2793 |
| Autosomal Recessive Omodysplasia |
|
Pterygium, Rhizomelia, Short stature, Cryptorchidism |
ORPHA:93329 |
| X-Linked Intellectual Disability, Snyder Type |
|
Sparse eyebrow, Abnormality of the Leydig cells, Upslanted palpebral fissure, Cryptorchidism, Sho... |
ORPHA:3063 |
| 19Q13.11 Microdeletion Syndrome |
|
Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Microcephaly, Cl... |
ORPHA:217346 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Talipes equinovarus, Brachydactyly, Hip dysplasia, Rocker bottom foot, Proxima... |
OMIM:619762 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Inflammation of the large intestine, Recurrent pneumonia, Eczemat... |
OMIM:301000 |
| Adnp Syndrome |
|
Broad thumb, Sandal gap, Broad hallux, Cerebral atrophy, Umbilical hernia, Single transverse palm... |
ORPHA:404448 |
| Fg Syndrome Type 1 |
|
Clinodactyly of the 2nd finger, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Umb... |
ORPHA:93932 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Limbal Stem Cell Deficiency |
|
Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s... |
ORPHA:171673 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Axillary pterygium, Intercrural pterygium, Popliteal pterygium, Neck pterygia, Downslanted palpeb... |
OMIM:265000 |
| Long-Olsen-Distelmaier Syndrome |
|
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect |
OMIM:620609 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Motor stereotypy |
OMIM:613886 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
High, narrow palate, Bifid uvula, Delayed eruption of teeth, Submucous cleft hard palate, Cleft p... |
ORPHA:2780 |
| Ring Chromosome 12 Syndrome |
|
Symphalangism of the thumb, Clinodactyly, Abnormal 5th finger morphology, Microcephaly, Syndactyly |
ORPHA:1439 |
| Pfeiffer Syndrome Type 3 |
|
Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus, Short hallux, Aqueducta... |
ORPHA:93260 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Self-injurious behavior, Short palpebral fissure, Downslanted palpebral fissures, Frequent temper... |
OMIM:616078 |
| Proboscis Lateralis |
|
Abnormal corpus callosum morphology, Macrocephaly, Anophthalmia, Microphthalmia, Holoprosencephal... |
ORPHA:141099 |
| 3C Syndrome |
|
Aortic valve stenosis, Finger syndactyly, Abnormal hip bone morphology, Hand polydactyly, Aplasia... |
ORPHA:7 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Osteomyelitis, Corneal scarring, Nail dystrophy, Self-mutilation, Recurrent corneal er... |
OMIM:256800 |
| Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Abnormality of skin pigmentation |
ORPHA:1414 |
| Methylmalonic Aciduria, Cblb Type |
|
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:251110 |
| Branchiooculofacial Syndrome |
|
Short thumb, Preaxial hand polydactyly, Elbow flexion contracture, Branchial anomaly, Anophthalmi... |
OMIM:113620 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Lissencephaly, Abnormal cortical gyration, Broad thumb, Finger syndactyly, Polymicrogyria, Preaxi... |
ORPHA:2211 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Small scrotum, Microphallus, Cryptorchidism, Self-mutilation, Hyperactivity, Micropenis, Motor st... |
OMIM:300486 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Self-injurious behavior, High anterior hairline, Bilateral ptosis, Downslanted palpebral fissures... |
OMIM:619512 |
| Oculodentodigital Dysplasia |
|
Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Clinodactyly, Preaxial hand polydact... |
ORPHA:2710 |
| Ivic Syndrome |
|
Severe short stature, Rectovaginal fistula, Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate |
ORPHA:93316 |
| Chromosome 13Q14 Deletion Syndrome |
|
Umbilical hernia, Overlapping toe, Absent septum pellucidum, Hypoplasia of the corpus callosum, S... |
OMIM:613884 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal neovascularization, Microphthalmia |
OMIM:305390 |
| Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Hip contracture, Agenesi... |
OMIM:210710 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Recurrent hand flapping, Skin rash, Attention deficit hyperactivity disorder, Hyperactivity, Moto... |
OMIM:617600 |
| Bardet-Biedl Syndrome 12 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly |
OMIM:615989 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Smooth philtrum, Short philtrum, Cleft soft palate |
ORPHA:293725 |
| Sepsis In Premature Infants |
|
Leukocytosis, Splenomegaly, Enterocolitis, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:90051 |
| Acitretin/Etretinate Embryopathy |
|
Antecubital pterygium, Epicanthus, Hypoplasia of the thymus |
ORPHA:40366 |
| Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Caudal appendage, Hypoplasia of the corpus callosum, Agenesis of co... |
ORPHA:314679 |
| Anterior Segment Dysgenesis 2 |
|
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia |
OMIM:610256 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Pancytopenia, Intrauterine growth re... |
OMIM:615846 |
| Cerebrocostomandibular Syndrome |
|
Anal stenosis, Carious teeth, Cleft lip, Anteriorly placed anus, Long philtrum, Cleft soft palate... |
OMIM:117650 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microglossia, Exaggerated median tongue furrow, Long philtrum, Tented upper lip vermilion, Submuc... |
OMIM:608670 |
| White Sponge Nevus 1 |
|
Abnormal conjunctiva morphology |
OMIM:193900 |
| Stickler Syndrome, Type I |
|
Bifid uvula, Cleft palate, Submucous cleft hard palate, Pierre-Robin sequence |
OMIM:108300 |
| Phelan-Mcdermid Syndrome |
|
Toenail dysplasia, Bruxism, Long eyelashes, Thick eyebrow, Hypoplastic toenails, Epicanthus, Aggr... |
OMIM:606232 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618906 |
| Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Microphthalmia, Pachygyria, Polymicrogyria |
ORPHA:2328 |
| Megalocornea-Intellectual Disability Syndrome |
|
Downslanted palpebral fissures, Hypoplasia of the iris, Megalocornea, Astigmatism, Epicanthus, Ir... |
ORPHA:2479 |
| 8Q22.1 Microdeletion Syndrome |
|
Sandal gap, Microcephaly, Finger syndactyly, Camptodactyly of finger |
ORPHA:178303 |
| Helsmoortel-Van Der Aa Syndrome |
|
Cryptorchidism, Epicanthus, Polyphagia, Narrow palpebral fissure, Dysphagia, Motor stereotypy, Sh... |
OMIM:615873 |
| Frontonasal Dysplasia 2 |
|
Cerebellar vermis hypoplasia, Encephalocele, Hypoplasia of the corpus callosum, Microcephaly, Mic... |
OMIM:613451 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Broad toe, Rig... |
OMIM:268310 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Abnormal cornea morphology, Chronic sinusitis, Chronic rhinitis, Asplenia, Chronic oti... |
OMIM:244400 |
| Adrenomyeloneuropathy |
|
Frontal balding, Male sexual dysfunction, Female sexual dysfunction, Lip hyperpigmentation, Fine ... |
ORPHA:139399 |
| Acromelic Frontonasal Dysostosis |
|
Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foo... |
OMIM:603671 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Linear Nevus Sebaceus Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Aplasia/Hypoplasia of the cere... |
ORPHA:2612 |
| Methylmalonic Aciduria, Cbla Type |
|
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:251100 |
| Ciliary Dyskinesia, Primary, 18 |
|
Recurrent otitis media, Recurrent sinusitis, Immotile sperm, Rhinitis, Male infertility |
OMIM:614874 |
| Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Preaxial hand polydactyly, Upper limb undergrowth, Absent septum pell... |
OMIM:236680 |
| Opitz-Kaveggia Syndrome |
|
Joint contracture of the hand, Broad thumb, Prominent fingertip pads, Clinodactyly, Radial deviat... |
OMIM:305450 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent sinusitis, Short sperm flagella, Bronchiectasis, Male infertility, Coiled sperm flagella |
OMIM:620197 |
| Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Female infertility, Polysplenia, Recurrent otitis media, Chronic sinusit... |
ORPHA:244 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
OMIM:274150 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Cerebral cortical atrophy, Toe syndactyly, Hypoplasi... |
ORPHA:464306 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Aplasia of the distal phalanx of the 5th toe, Microcephaly, Brachydactyly, Microphthalmia, Aplasi... |
ORPHA:364577 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Postaxial polydacty... |
ORPHA:457284 |
| Poland Syndrome |
|
Small hand, Aplasia/Hypoplasia of the radius, Cone-shaped epiphysis, Finger syndactyly, Absent ha... |
ORPHA:2911 |
| Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Bronchiectasis, Hypochromic microcytic anemia, Crohn's disease |
OMIM:619632 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Downslanted palpebral fissures, Vaginal neoplasm, Intrauterine growth retardation, Epic... |
ORPHA:1052 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ... |
OMIM:601399 |
| Orofaciodigital Syndrome V |
|
Postaxial foot polydactyly, Sandal gap, Agenesis of corpus callosum, Postaxial polydactyly, Micro... |
OMIM:174300 |
| Khan-Khan-Katsanis Syndrome |
|
Cerebellar vermis hypoplasia, Clinodactyly, Tricuspid regurgitation, Postaxial polydactyly, Micro... |
OMIM:618460 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Motor stereotypy, Upslanted palpebral fissure |
OMIM:617807 |
| Ablepharon Macrostomia Syndrome |
|
Fine hair, Abnormal female external genitalia morphology, Cryptophthalmos, Breast hypoplasia, Abs... |
ORPHA:920 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Severe short stature, Cataract, Disproportionate short-limb short stature, Pterygium, Cryptorchidism |
OMIM:224410 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Corneal perforation, Lacrimal gland hypoplasia, Downslanted palpebral fissures, Hypoplasia of the... |
OMIM:149730 |
| White-Sutton Syndrome |
|
Self-injurious behavior, Iris coloboma, Vitiligo, Astigmatism, Aggressive behavior, Short stature... |
ORPHA:468678 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Severe short stature, Pterygium, Cryptorchidism, Hirsutism, Developmental cataract |
ORPHA:1865 |
| Amoebiasis Due To Free-Living Amoebae |
|
Pneumonia, Corneal perforation, Increased red blood cell count, Granuloma, Infectious encephaliti... |
ORPHA:68 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Bilateral microphthalmos, Hypoplasia of th... |
OMIM:610828 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Epiphyseal stippling, Talipes equinovarus, Neonatal epiphyseal stippling, Microphthalmia, Hip dis... |
ORPHA:35173 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Motor ste... |
ORPHA:313892 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
OMIM:235400 |
| Pierson Syndrome |
|
Hypoplasia of the iris, Rieger anomaly, Microcephaly, Hypoplasia of the ciliary body, Progressive... |
OMIM:609049 |
| Necrotizing Enterocolitis |
|
Peritonitis, Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Posterior polar cataract, Downslanted palpebral fissures, Low posterior hairline, Iron deficiency... |
ORPHA:261584 |
| Neuroendocrine Tumor Of Stomach |
|
Increased serum serotonin, Increased circulating ACTH level, Chronic noninfectious lymphadenopath... |
ORPHA:100075 |
| Van Esch-O'Driscoll Syndrome |
|
Short palpebral fissure, Growth delay, Intrauterine growth retardation, Upslanted palpebral fissu... |
OMIM:301030 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Sandal gap, Micromelia, Broad hallux, Single transverse palmar crease, Brachydactyly, Syndactyly |
OMIM:614800 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
| Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy |
OMIM:619317 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
| Cystinosis, Nephropathic |
|
Pigmentary retinopathy, Hypopigmentation of the skin, Corneal crystals, Retinal pigment epithelia... |
OMIM:219800 |
| Ohdo Syndrome, X-Linked |
|
Short thumb, Clinodactyly, Overlapping toe, Long thumb, Ulnar deviation of the hand, Hip dysplasi... |
OMIM:300895 |
| Spermatogenic Failure 13 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615841 |
| Microphthalmia, Syndromic 1 |
|
Joint contracture of the hand, Prominent fingertip pads, Clinodactyly, Radial deviation of finger... |
OMIM:309800 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Hypoplasia of the pons, Cerebral atrophy, Syndactyly |
OMIM:616430 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Aggressive behavior, Intrauterine growth retardation, Dysphagia, Thrombocytopenia |
ORPHA:572798 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cataract, Ptosis, Tortuosity of conjunctival vessels |
ORPHA:284289 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High, narrow palate, Eclabion, Downturned corners of mouth, Widely spaced teeth, Ankyloglossia, C... |
OMIM:619950 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger |
ORPHA:246 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Bifid uvula, Dental crowding, Delayed eruption of teeth, Narrow mouth, Submucous cleft hard palat... |
OMIM:300990 |
| Spermatogenic Failure, X-Linked, 4 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... |
OMIM:301077 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
2-3 toe cutaneous syndactyly, Talipes equinovarus, Pulmonary arterial hypertension, Cutaneous syn... |
OMIM:620029 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal hair morphology, Type I diabetes mellitus, Abnormality of skin pigmentation, Premature g... |
ORPHA:1979 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Tics, Hypospadias, Iris coloboma, Motor stereotypy, Cataract, Hypopigmentation of the skin, Osteo... |
OMIM:619475 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Symblepharon, Recurrent loss of toenails and fingernails, Nail dystrophy, Corneal pterygium |
OMIM:245660 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... |
ORPHA:90041 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Basal ganglia calcification, Microcephaly, Microphthalmia |
OMIM:610651 |
| Autism, Susceptibility To, 3 |
|
Increased serum serotonin, Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608049 |
| Herpes Simplex Virus Stromal Keratitis |
|
Corneal perforation, Keratitis, Conjunctival hyperemia, Corneal stromal edema, Herpetiform cornea... |
ORPHA:137599 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Cockayne Syndrome A |
|
Irregular menstruation, Cataract, Pigmentary retinopathy, Dry hair, Sparse hair, Retinal pigment ... |
OMIM:216400 |
| Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Thrombocytopenia |
OMIM:300972 |
| 1P36 Deletion Syndrome |
|
Self-injurious behavior, Cataract, Horizontal eyebrow, Annular pancreas, Ocular albinism, Hypogon... |
ORPHA:1606 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hyperi... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hyperi... |
ORPHA:99228 |
| Monosomy X |
|
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hyperi... |
ORPHA:99226 |
| Turner Syndrome |
|
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hyperi... |
ORPHA:881 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Nephrogenic diabetes insipidus, Thrombocytopenia |
OMIM:208085 |
| Cystinosis |
|
Type I diabetes mellitus, Polydipsia, Hypothyroidism, Delayed puberty, Nephrogenic diabetes insip... |
ORPHA:213 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal temper tantrums, Supernumerary nipple, Downslanted palpebral fissures, Astigmatism, Aggr... |
ORPHA:457279 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Neuromuscular dysphagia, Conjunctival hyperemia, Impulsivity |
ORPHA:240071 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Microphthalmia |
OMIM:301108 |
| Pseudoaminopterin Syndrome |
|
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th... |
ORPHA:221120 |
| Native American Myopathy |
|
Bifid uvula, Downturned corners of mouth, Submucous cleft soft palate, High palate, Cleft palate |
ORPHA:168572 |
| Grange Syndrome |
|
Renovascular hypertension, Brachydactyly, Finger clinodactyly, Syndactyly |
OMIM:602531 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Telecanthus, Upslanted palpebral fissure, Long palpebral fissure, Shawl sc... |
ORPHA:1974 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Peritonitis, Pancreatitis, Schi... |
ORPHA:90038 |
| Hallermann-Streiff Syndrome |
|
Small hand, Congestive heart failure, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Clinod... |
ORPHA:2108 |
| Ring Chromosome 7 Syndrome |
|
Highly arched eyebrow, Hypospadias, Bilateral ptosis, Downslanted palpebral fissures, Hypogonadis... |
ORPHA:1449 |
| Fetal Akinesia Deformation Sequence |
|
Pterygium, Intrauterine growth retardation, Cryptorchidism |
ORPHA:994 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
| Cirrhotic Cardiomyopathy |
|
Addictive alcohol use, Conjunctival icterus |
ORPHA:57777 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Downturned corners of mouth, Submucous cleft hard palate |
OMIM:619680 |
| Acrofrontofacionasal Dysostosis 1 |
|
Short distal phalanx of finger, Broad thumb, Acetabular dysplasia, Microphthalmia, Short metacarpal |
OMIM:201180 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Hypoplasia of the corpus callosum, 2-3 toe syndactyly, Microcephaly, Long fingers, Microphthalmia... |
OMIM:616734 |
| Double Outlet Right Ventricle |
|
Intestinal malrotation, Cleft palate, Narrow mouth, Submucous cleft hard palate |
ORPHA:3426 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Sparse eyebrow, Recurrent pneumonia, Growth delay, Upslanted palpebral fissure, Hirsutism, Dyspha... |
ORPHA:496641 |
| Momo Syndrome |
|
Bilateral microphthalmos, Femoral bowing, Short sternum, Large hands, Macrocephaly, Congenital ps... |
ORPHA:2563 |
| Lambert-Eaton Myasthenic Syndrome |
|
Abnormality of the orbital region, Keratoconjunctivitis sicca, Impotence |
ORPHA:43393 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... |
ORPHA:1112 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Horizontal eyebrow, Downslanted palpebral fissures, Thick eyebrow, Astigmatism, Upslanted palpebr... |
OMIM:617330 |
| Xq28 (MECP2) duplication |
|
Motor stereotypy, Dysphagia |
DECIPHER:45 |
| Pterygium, Antecubital |
|
Antecubital pterygium |
OMIM:178200 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Small hand, Abnormal cortical gyration, Hypoplasia of the corpus callosum, Postaxial polydactyly,... |
OMIM:300968 |
| Fucosidosis |
|
Cherry red spot of the macula, Tortuosity of conjunctival vessels, Thick eyebrow, Splenomegaly, S... |
OMIM:230000 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Blepharospasm, Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacit... |
ORPHA:98957 |
| Hurler Syndrome |
|
Thick eyebrow, Splenomegaly, Generalized hirsutism, Abnormality of skin pigmentation, Corneal opa... |
ORPHA:93473 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| X Small Rings |
|
Toe syndactyly, Upper limb undergrowth, Mitral stenosis, Lower limb undergrowth, 2-3 toe syndacty... |
ORPHA:96201 |
| Kinsship Syndrome |
|
Single transverse palmar crease, Polydactyly, Fibular hypoplasia, Microcephaly, Coxa valga, Prima... |
OMIM:619297 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Growth delay, Cervical lymphadenopathy, Lymphopenia, Decreased CD4:CD8 ratio,... |
OMIM:619573 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Attention deficit hyperactivity disorder, Short stature, Blepharophimosis, Juvenile rheumatoid ar... |
OMIM:615656 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Growth delay, Nail dystrophy, Iron deficiency anemia, Anonychia, Glomerulonephritis, Gastrointest... |
ORPHA:79408 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect |
OMIM:616897 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Downslanted palpebral fissures, Intrauterine growth retardation, Thick eyebrow, Stereotypical han... |
OMIM:619229 |
| Larsen Syndrome |
|
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m... |
ORPHA:503 |
| Apert Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Micromelia, Absent septum pellucidum, Agenesis of... |
ORPHA:87 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
| Fryns Syndrome |
|
Short distal phalanx of finger, Cerebral cortical atrophy, Agenesis of corpus callosum, Microphth... |
ORPHA:2059 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Agitation, Impulsivity, Hyperactivity, Thrombocytopenia |
OMIM:620423 |
| Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia |
OMIM:617397 |
| Mandibuloacral Dysplasia |
|
Alopecia, Insulin-resistant diabetes mellitus, Hypoplastic fingernail, Postnatal growth retardati... |
ORPHA:2457 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Short palpebral fissure, Small nail, Downslanted palpebral fissures, Upslanted palpebral fissure,... |
OMIM:309590 |
| Steinert Myotonic Dystrophy |
|
Oral-pharyngeal dysphagia, Hyperinsulinemia, Decreased fertility, Obsessive-compulsive trait, Sec... |
ORPHA:273 |
| Neurocardiofaciodigital Syndrome |
|
Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Polydactyly, Microcephaly, Cavum... |
OMIM:619869 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Preaxial polydactyly, Fibular hypoplasia, Postaxial polydactyly, Narrow greater scia... |
OMIM:617925 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Hypoplastic anterior commissure, Hypoplasia of the pons, Macrocepha... |
OMIM:616975 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Axillary pterygium, Nail dystrophy, Nail dysplasia, Anonychia, Ectropion |
OMIM:226730 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Narrow mouth, Wide mouth, Abnormal parotid gland morphology, Cleft palate |
OMIM:154500 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
| Constricting Bands, Congenital |
|
Talipes equinovarus, Hand polydactyly, Encephalocele, Syndactyly |
OMIM:217100 |
| Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Delayed puberty, Thrombocytopenia, Anemia, Growth delay |
ORPHA:77261 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Ptosis, Short stature, Motor stere... |
OMIM:300352 |
| Myhre Syndrome |
|
Bifid uvula, Gingival cleft, Unilateral cleft lip, Abnormal lip morphology, Narrow mouth, Submuco... |
ORPHA:2588 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
High palate, Submucous cleft hard palate |
OMIM:222765 |
| Cockayne Syndrome B |
|
Square pelvis bone, Cerebral atrophy, Hypoplasia of the iris, Hypoplastic iliac wing, Basal gangl... |
OMIM:133540 |
| Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... |
ORPHA:3427 |
| Fanconi Anemia, Complementation Group L |
|
Absent thumb, Absent radius, Cerebellar hypoplasia, Hydrocephalus, Microphthalmia, Bilateral tali... |
OMIM:614083 |
| Tarp Syndrome |
|
Abnormal corpus callosum morphology, Finger syndactyly, Clinodactyly, Hypoplasia of proximal radi... |
ORPHA:2886 |
| Large Congenital Melanocytic Nevus |
|
Generalized hirsutism, Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormalit... |
ORPHA:626 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Cherry red spot of the macula, Hypersplenism, Interstitial pneumonitis, Splenomeg... |
ORPHA:77293 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Recurrent hand flapping, Aggressive behavior, Attention deficit hyperactivity disorder, Tongue th... |
OMIM:619580 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Bilateral ptosis, Congenital fibrosis of extraocular muscles, Downslanted palpebral fissures, Pos... |
ORPHA:300570 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Obsessive-compulsive trait, Astigmatism, Aggressive behavior, Hyperactivity, Motor stereotypy |
ORPHA:168491 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Self-injurious behavior, Small scrotum, Recurrent pneumonia, Fixated interests, Eczematoid dermat... |
OMIM:620330 |
| Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye, Phthisis bulbi, Macular hypoplasia, Microphthalmia, Buphthalmos |
ORPHA:91495 |
| Popliteal Pterygium Syndrome |
|
Small scrotum, Intercrural pterygium, Popliteal pterygium, Ankyloblepharon, Bifid scrotum, Crypto... |
OMIM:119500 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Postaxial polydactyly, Hydrocephalus |
OMIM:219730 |
| Otodental Syndrome |
|
Lens coloboma, Microphthalmia |
ORPHA:2791 |
| Bernard-Soulier Syndrome |
|
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet ag... |
ORPHA:274 |
| Cowden Syndrome |
|
Abnormal penis morphology, Cataract, Follicular thyroid carcinoma, Hypopigmented skin patches, Ab... |
ORPHA:201 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Ulnar deviation of finger, Clinodactyly, Sandal gap, Radial deviation of f... |
OMIM:618164 |
| Argininemia |
|
Postnatal growth retardation, Reduced erythrocyte arginase activity, Hyperactivity, Anorexia |
OMIM:207800 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Phthisis bulbi, Buphthalmos, Hyphema, Microphthalmia |
OMIM:221900 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Horizontal eyebrow, Almond-shaped palpebral fissure, Self-mutilation, Epicanthus, Repetitive comp... |
ORPHA:522077 |
| Hellp Syndrome |
|
Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang... |
ORPHA:244242 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Growth delay, Fasciitis, Osteomyelitis, Corneal scarring, Abscess, Self-mutilation, Anemia, Tooth... |
ORPHA:642 |
| Ciliary Dyskinesia, Primary, 19 |
|
Recurrent otitis media, Recurrent sinusitis, Rhinitis, Bronchiectasis, Male infertility |
OMIM:614935 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Epicanthus, Narrow palpebral fissure... |
OMIM:618653 |
| Primrose Syndrome |
|
Sparse body hair, Cryptorchidism, Epicanthus, Absent axillary hair, Tics, Restlessness, Motor ste... |
OMIM:259050 |
| Radial Heads, Posterior Dislocation Of |
|
Antecubital pterygium |
OMIM:179200 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperparathyroidism, Conjunctival whitish salt-like deposits |
OMIM:211900 |
| Dural Sinus Malformation |
|
Chemosis |
ORPHA:97339 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
| Aicardi Syndrome |
|
Small hand, Polymicrogyria, Microphthalmia, Microcephaly, Aplasia/Hypoplasia of the cerebellum, H... |
ORPHA:50 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Rudimentary to absent tibiae, Split ... |
ORPHA:958 |
| Tick-Borne Encephalitis |
|
Myelitis, Leukopenia, Leukocytosis, Thrombocytopenia, Anorexia, Dysphagia |
ORPHA:297 |
| Liver Disease, Severe Congenital |
|
Pneumonia, Dry hair, Eczematoid dermatitis, Pancreatic hypoplasia, Recurrent otitis media, Chroni... |
OMIM:619991 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly |
ORPHA:1252 |
| Pallister-Hall Syndrome |
|
Broad thumb, Toe syndactyly, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe... |
ORPHA:672 |
| Kbg Syndrome |
|
Radial deviation of finger, Ulnar deviation of the 2nd finger, Single transverse palmar crease, M... |
OMIM:148050 |
| Somatostatinoma |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:97283 |
| Acrocallosal Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydactyly, Aplasia... |
OMIM:200990 |
| Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Adrenal hypoplasia, Abnormality of skin pigmentation |
OMIM:240200 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Cleft soft palate, Submucous cleft soft palate |
ORPHA:2282 |
| Hardikar Syndrome |
|
Pigmentary retinopathy, Pyelonephritis, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Impaired... |
OMIM:301068 |
| Desmosterolosis |
|
Bifid uvula, Intestinal malrotation, Narrow mouth, Submucous cleft hard palate, Cleft palate |
ORPHA:35107 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Tracheoesophageal fistula, Esophageal atresia, Duodenal atresia, Submucous cleft hard palate |
OMIM:619227 |
| Microphthalmia/Coloboma 12 |
|
Optic nerve aplasia, Microphthalmia |
OMIM:120200 |
| Craniolenticulosutural Dysplasia |
|
Posterior Y-sutural cataract, Coarse hair, Hyperpigmentation of the skin, Abnormality of skin pig... |
ORPHA:50814 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Highly arched eyebrow, Hypospadias, Precocious puberty, Growth delay, Ectopia p... |
OMIM:194190 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Adactyly, Upper... |
ORPHA:989 |
| Traboulsi Syndrome |
|
Cataract, Ectopia lentis, Phakodonesis, Downslanted palpebral fissures, Iris atrophy, Spherophaki... |
OMIM:601552 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Niemann-Pick Disease, Type C2 |
|
Sea-blue histiocytosis, Splenomegaly, Dysphagia, Bone-marrow foam cells, Motor stereotypy |
OMIM:607625 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:363705 |
| Pulmonary Arteriovenous Malformation |
|
Bacterial endocarditis, Iron deficiency anemia, Brain abscess, Liver abscess |
ORPHA:2038 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Broad thumb, Clinodactyly, Tricuspid regurgitation, Brachydactyly, Macrocephaly, Camptodactyly, S... |
OMIM:616894 |
| Wilson Disease |
|
Sunflower cataract, Kayser-Fleischer ring, Splenomegaly, Hypoparathyroidism, Atypical or prolonge... |
OMIM:277900 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Small hand, Short thumb, Telangiectasia, Talipes equinovarus, Forearm... |
OMIM:268400 |
| Velocardiofacial Syndrome |
|
Velopharyngeal insufficiency, Open mouth, Submucous cleft hard palate, Cleft palate, Pierre-Robin... |
OMIM:192430 |
| Sacral Agenesis With Vertebral Anomalies |
|
Anal atresia, Persistent cloaca, Neonatal death |
OMIM:615709 |
| Neuroleptic Malignant Syndrome |
|
Aspiration pneumonia, Leukocytosis, Thrombocytopenia, Thrombocytosis, Dysphagia, Agitation |
ORPHA:94093 |
| Smith-Lemli-Opitz Syndrome |
|
Self-injurious behavior, Cataract, Hypospadias, Clitoral hypertrophy, Rhizomelia, Growth delay, D... |
ORPHA:818 |
| Bardet-Biedl Syndrome 20 |
|
2-3 toe syndactyly, Preaxial foot polydactyly, Postaxial polydactyly, Postaxial hand polydactyly |
OMIM:619471 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Hemiatrophy, Long palm, Ar... |
ORPHA:2215 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Congenital hip dislocation, Umbilical hernia, Cubitus valgus, Hydrocephalus, Syndactyly |
OMIM:104350 |
| Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia, Elliptocytosis, Anemia, ... |
ORPHA:2785 |
| Microphthalmia/Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Phaver Syndrome |
|
Pterygium, Epicanthus, Intrauterine growth retardation, Downslanted palpebral fissures |
ORPHA:2876 |
| Orofaciodigital Syndrome Type 4 |
|
High, narrow palate, Bifid uvula, Abnormal oral mucosa morphology, Oral synechia, Perineal fistul... |
ORPHA:2753 |
| Rett Syndrome |
|
Growth delay, Increased serum leptin, Bruxism, Cholecystitis, Stereotypical hand wringing, Motor ... |
ORPHA:778 |
| Leptospirosis |
|
Hepatitis, Skin rash, Conjunctival hyperemia, Optic neuritis, Lymphadenopathy, Thrombocytopenia, ... |
ORPHA:509 |
| Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Decreased response to growth hormone stimulation test, Hepatosplenomegaly, Leuk... |
ORPHA:470 |
| Monosomy 9P |
|
Abnormality of the tarsal bones, Bilateral single transverse palmar creases, Agenesis of corpus c... |
ORPHA:261112 |
| Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, 2-3 toe syndactyly, Talipes equinovarus, Pulmonary arterial hypertension, Macr... |
OMIM:620025 |
| Mucopolysaccharidosis Type 2 |
|
Hip osteoarthritis, Abnormal temper tantrums, Growth delay, Oppositional defiant disorder, Abnorm... |
ORPHA:580 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Recurrent pneumonia, Disproportionate short stature, Decreased proportion of CD8-positive T cells... |
ORPHA:508533 |
| Hartsfield Syndrome |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Ectrodactyly, Agenesis of corpus callosum,... |
OMIM:615465 |
| Townes-Brocks Syndrome 1 |
|
Broad thumb, Tethered cord, Preaxial hand polydactyly, 3-4 toe syndactyly, Umbilical hernia, Pseu... |
OMIM:107480 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Thrombocytopenia |
ORPHA:99901 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
| Vacterl/Vater Association |
|
Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd... |
ORPHA:887 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... |
OMIM:300257 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Motor stereotypy, Agitation |
ORPHA:927 |
| Tuberous Sclerosis Complex |
|
Self-injurious behavior, Pituitary adenoma, Ungual fibroma, Pheochromocytoma, Retinal astrocytic ... |
ORPHA:805 |
| Orofaciodigital Syndrome Type 1 |
|
Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand polydacty... |
ORPHA:2750 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Type I diabetes mellitus, Recurrent otitis media, Microcytic anemia, Splenomegaly, Membranoprolif... |
OMIM:619525 |
| Witteveen-Kolk Syndrome |
|
Small hand, Toe syndactyly, Clinodactyly, Overlapping toe, Hypoplasia of the corpus callosum, Ara... |
OMIM:613406 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chilblains, Eyelid coloboma, Myositis, ... |
ORPHA:51 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Leukoencephalopathy, Cerebral atrophy, Hypertrophic cardiomyopathy, Short humerus, Polydactyly, M... |
ORPHA:17 |
| Gitelman Syndrome |
|
Type I diabetes mellitus, Graves disease, Polydipsia, Gout, Type II diabetes mellitus, Hashimoto ... |
ORPHA:358 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Imperforate hymen, Hematocolpos, Growth delay, Downslanted palpebral fissures, Telecanthus, Intra... |
OMIM:619522 |
| Fryns Syndrome |
|
Short distal phalanx of finger, Joint contracture of the hand, Short thumb, Prominent fingertip p... |
OMIM:229850 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Growth delay, Splenomegaly, Thrombocytopenia |
OMIM:251880 |
| Bruck Syndrome |
|
Pterygium, Short stature |
ORPHA:2771 |
| Phace Association |
|
Cerebellar hypoplasia, Microphthalmia, Dandy-Walker malformation, Optic nerve hypoplasia |
OMIM:606519 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Secondary microcephaly, Hypoplasia of the corpus callosum, Short hallux, Short 5t... |
ORPHA:508488 |
| Branchioskeletogenital Syndrome |
|
Bifid uvula, Abnormality of the dentition, Carious teeth, Downturned corners of mouth, Anteriorly... |
ORPHA:1299 |
| Meier-Gorlin Syndrome 5 |
|
Long philtrum, Submucous cleft hard palate, Thick vermilion border |
OMIM:613805 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Brain abscess, Leukocytosis, Pancreatitis, Thrombocytopenia, Myocarditis, Septic arthr... |
ORPHA:544482 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microcephaly, Microphthalmia |
OMIM:110100 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Cardiofaciocutaneous Syndrome 1 |
|
Abnormality of the dentition, Dental malocclusion, Open bite, Open mouth, Submucous cleft hard pa... |
OMIM:115150 |
| Bruck Syndrome 2 |
|
Pterygium, Short stature |
OMIM:609220 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Tibial bowing, Phthisis bulbi, Microcephaly, Metaphyseal widening, Microphthalmia |
OMIM:259770 |
| Ring Chromosome 13 Syndrome |
|
Alopecia, Growth delay, Bifid scrotum, Primary hypothyroidism, Epicanthus, Ambiguous genitalia, U... |
ORPHA:96176 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Self-injurious behavior, Downslanted palpebral fissures, Bruxism, Hair-pulling, Epicanthus, Aggre... |
OMIM:616393 |
| Coffin-Siris Syndrome 12 |
|
Highly arched eyebrow, High anterior hairline, Small nail, Downslanted palpebral fissures, Long e... |
OMIM:619325 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Congenital thrombocytopenia, Eczematoid dermatitis, Intermittent ... |
OMIM:313900 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos, Postnatal macrocephaly, Basal ganglia calcification, Stenosis of the me... |
ORPHA:93325 |
| Sclerosteosis 1 |
|
Abnormal pelvic girdle bone morphology, Deviation of finger, 2-3 finger syndactyly, Cortically de... |
OMIM:269500 |
| Hemorrhagic Fever-Renal Syndrome |
|
Pneumonia, Leukocytosis, Anemia, Glomerulonephritis, Thrombocytopenia, Tubulointerstitial nephrit... |
ORPHA:340 |
| Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Syringomyelia, Deep palmar crease, Lipomyelomeningocele, ... |
OMIM:616580 |
| Bruck Syndrome 1 |
|
Pterygium, Short stature |
OMIM:259450 |
| Norrie Disease |
|
Hypoplasia of the iris, Buphthalmos, Microphthalmia |
OMIM:310600 |
| Brittle Cornea Syndrome |
|
Corneal scarring, Abnormality of hair pigmentation, Decreased corneal thickness, Corneal dystroph... |
ORPHA:90354 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension, Absent septum pellucidum, Agenesis of corpus callosum, Abnormal digit morphology, Po... |
ORPHA:95494 |
| Cat Eye Syndrome |
|
Microphthalmia, Umbilical hernia, Pulmonic stenosis, Absent radius |
OMIM:115470 |
| Autosomal Recessive Robinow Syndrome |
|
Short distal phalanx of finger, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, El... |
ORPHA:1507 |
| Oculoauricular Syndrome |
|
Spina bifida occulta, Macular hypoplasia, Phthisis bulbi, Microphthalmia, Microphakia |
OMIM:612109 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Aspiration pneumonia, Splenomegaly, Seborrheic dermatitis, Thrombocytopenia, Short stature |
OMIM:301072 |
| Multiple Pterygium Syndrome, X-Linked |
|
Epicanthus, Intrauterine growth retardation, Multiple pterygia |
OMIM:312150 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Genu valgum, Branchial anomaly, Partial duplication of thumb phalanx, An... |
OMIM:164210 |
| Spondylospinal Thoracic Dysostosis |
|
Multiple pterygia |
OMIM:601809 |
| Okamoto Syndrome |
|
Aortic valve stenosis, Abnormally large globe, Hypoplasia of the corpus callosum, Polydactyly, Sy... |
ORPHA:2729 |
| Saethre-Chotzen Syndrome |
|
Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe... |
OMIM:101400 |
| Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Ethmo... |
OMIM:236100 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Postnatal growth retardation, Cryptorchidism, Motor stereotypy, Hypospadias, Self-injurious behav... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Postnatal growth retardation, Cryptorchidism, Motor stereotypy, Hypospadias, Self-injurious behav... |
ORPHA:353277 |
| Fraser Syndrome 2 |
|
Cutaneous syndactyly, Microphthalmia |
OMIM:617666 |
| Meckel Syndrome 12 |
|
Antecubital pterygium, Intrauterine growth retardation, Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Short distal phalanx of finger, Broad thumb, Prominent fingertip pads, Broa... |
OMIM:612474 |
| Tolchin-Le Caignec Syndrome |
|
Precocious puberty, Short palpebral fissure, Hooded eyelid, Thick eyebrow, Hirsutism, Attention d... |
OMIM:618971 |
| Orofaciodigital Syndrome Xiv |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Broad hallux, Preaxial polydactyly, Polymi... |
OMIM:615948 |
| Roberts-Sc Phocomelia Syndrome |
|
Finger aplasia, Absent thumb, Clinodactyly, Radial deviation of finger, Elbow flexion contracture... |
OMIM:268300 |
| Faciocardiomelic Syndrome |
|
Microcephaly, Hypoplastic pelvis, Slender long bone, Polydactyly |
OMIM:612731 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Aplastic clavicle, Finger syndactyly, Absent septum pellucidum, Agenesis of corpus callosum, Abno... |
ORPHA:2658 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility |
ORPHA:2239 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity |
OMIM:610042 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Polymicrogyria, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of t... |
OMIM:253280 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly |
ORPHA:314655 |
| Neuroocular Syndrome 1 |
|
Hooded upper eyelid, Small nail, Brittle hair, Lens coloboma, Brushfield spots, Iris coloboma, Ca... |
OMIM:619539 |
| Holoprosencephaly 13, X-Linked |
|
Median cleft palate, Submucous cleft hard palate, Median cleft upper lip, Solitary median maxilla... |
OMIM:301043 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Motor tics, Motor stereotypy |
OMIM:619725 |
| Postaxial Acrofacial Dysostosis |
|
Congenital hip dislocation, Short thumb, Radioulnar synostosis, Hypoplasia of the radius, Hypopla... |
OMIM:263750 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Intrauterine growth retardation, Astigmatism, Cryptorchidism, Motor stereotypy, Attention deficit... |
ORPHA:464311 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Conjunctival hamartoma, Erythroderma |
ORPHA:312 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Saethre-Chotzen Syndrome |
|
Broad thumb, Finger syndactyly, Bilateral single transverse palmar creases, Triphalangeal thumb, ... |
ORPHA:794 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Aortic regurgitation, Cerebral cortical atrophy, Short 5th toe, 2-4 toe cu... |
ORPHA:268261 |
| Cranioectodermal Dysplasia 2 |
|
Rhizomelia, Clinodactyly, Macrocephaly, Polydactyly, Brachydactyly, Postaxial hand polydactyly, H... |
OMIM:613610 |
| Carpenter Syndrome 2 |
|
Broad thumb, Preaxial polydactyly, Tricuspid regurgitation, Umbilical hernia, Cutaneous finger sy... |
OMIM:614976 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
| Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Toe syndactyly, Broad thumb, Finger syndactyly, Cardiomyopathy, Short... |
ORPHA:373 |
| Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Popliteal pterygium, Downslanted palpebral fissures, Multiple pterygia, Ptosis, Antecubital ptery... |
OMIM:178110 |
| Mckusick-Kaufman Syndrome |
|
Postaxial foot polydactyly, Finger syndactyly, Abnormal metacarpal morphology, Brachydactyly, Pos... |
ORPHA:2473 |
| Phace Syndrome |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Lens coloboma, ... |
ORPHA:42775 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Periventricular leukomalacia, Preaxial polydactyly |
ORPHA:163681 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Phacoanaphylactic Uveitis |
|
Red eye, Posterior uveitis, Panuveitis, Posterior synechiae of the anterior chamber, Keratitis, A... |
ORPHA:209959 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Self-injurious behavior, Head-banging, Recurrent otitis media, Frequent temper tantrums, Anterior... |
OMIM:619575 |
| Plague |
|
Inflammation of the large intestine, Mydriasis, Lymphadenitis, Chapped lip, Anorexia, Skin rash, ... |
ORPHA:707 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Mullegama-Klein-Martinez Syndrome |
|
Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Long philtrum, Thin upper lip ve... |
OMIM:301022 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Epicanthus, Intrauterine growth retardation, Multiple pterygia |
OMIM:253290 |
| Fontaine Progeroid Syndrome |
|
Short distal phalanx of finger, Cerebellar vermis hypoplasia, Umbilical hernia, Tricuspid regurgi... |
OMIM:612289 |
| Yunis-Varon Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Bilateral single transverse palmar creases, H... |
OMIM:216340 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility |
ORPHA:48 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Disproportionate short-trunk short stature, Iron deficiency anemia, Abnormal circulating osteocal... |
ORPHA:93315 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Clinodactyly, Syndactyly, Brachydactyly, Clinodactyly of the 5th finger, Relative macrocephaly, N... |
ORPHA:96182 |
| Prader-Willi Syndrome |
|
Small hand, Radial deviation of finger, Clinodactyly, Genu valgum, Narrow palm, Hip dysplasia, Ac... |
OMIM:176270 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... |
OMIM:261740 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent pneumonia, Polydipsia, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Biliary hyperpl... |
ORPHA:731 |
| Familial Cutaneous Collagenoma |
|
Abnormality of skin pigmentation |
ORPHA:53296 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Enlarged kidney, Dilated cardiomyopathy |
OMIM:608836 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Sickle Cell Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:603903 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Recurrent otitis media, Chronic sinusitis, Male infertility |
OMIM:619607 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Symblepharon, Telecanthus, Thick eyebrow, Micropenis |
ORPHA:488434 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... |
OMIM:245600 |
| Hydroxykynureninuria |
|
Motor stereotypy, Stomatitis |
ORPHA:79155 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Menometrorrhagia, Keratoconus, Cystocele, Decreased fertility, Epicanthus, Ptosis, Keratoconjunct... |
ORPHA:285 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Highly arched eyebrow, Growth delay, Downslanted palpebral fissures, Intrauterine growth retardat... |
OMIM:301044 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:308552 |
| Childhood Disintegrative Disorder |
|
Motor stereotypy |
ORPHA:168782 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Smooth philtrum, Cleft soft palate, Downturned corners of mouth |
OMIM:619321 |
| Townes-Brocks Syndrome |
|
Toe clinodactyly, Ulnar deviation of finger, Broad thumb, Toe syndactyly, Preaxial hand polydacty... |
ORPHA:857 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Ventricular septal defect |
OMIM:614921 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Pneumonia, Cataract, Self-injurious behavior, Growth delay, Abnormal fear-induced behavior, Crypt... |
ORPHA:353281 |
| Idiopathic Panuveitis |
|
Red eye, Cataract, Posterior synechiae of the anterior chamber, Conjunctival hyperemia |
ORPHA:280921 |
| Ear-Patella-Short Stature Syndrome |
|
High, narrow palate, Bifid uvula, Narrow mouth, Submucous cleft hard palate, Thick vermilion bord... |
ORPHA:2554 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hair-pulling, Dysphagia, Hyperactivity, Motor stereotypy, Synophrys |
ORPHA:447997 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Antecubital pterygium |
OMIM:618469 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Leukoencephalopathy, Focal cortical dysplasia, Hypoplasia of the iris, Ischemic stroke, Microphth... |
OMIM:175780 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Cleft soft palate |
OMIM:614557 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Pterygium, Intrauterine growth retardation |
OMIM:225790 |
| 3Mc Syndrome 3 |
|
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly |
OMIM:248340 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Submucous cleft hard palate, Microdontia, Thin upper lip vermilion, Deep philtrum, Thin lower lip... |
OMIM:619194 |
| Proteus Syndrome |
|
Generalized hirsutism, Abnormality of the nail, Cataract, Downslanted palpebral fissures, Enlarge... |
ORPHA:744 |
| Papillorenal Syndrome |
|
Hypertension, Microphthalmia |
OMIM:120330 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
| Renpenning Syndrome 1 |
|
Joint contracture of the hand, Synostosis of the proximal phalanx of the thumb with the 1st metac... |
OMIM:309500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
High, narrow palate, Dental crowding, Widely spaced teeth, Open mouth, Narrow mouth, Submucous cl... |
OMIM:300967 |
| Alkaptonuria |
|
Brown pigmentation of the conjunctiva, Arthritis |
OMIM:203500 |
| Mosaic Trisomy 16 |
|
Short forearm, Short thumb, Clinodactyly, Large placenta, Single transverse palmar crease, Short ... |
ORPHA:1708 |
| Norrie Disease |
|
Self-injurious behavior, Cataract, Ectopia lentis, Uterine rupture, Hypoplasia of the iris, Abnor... |
ORPHA:649 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Motor stereotypy, Dysphagia |
ORPHA:572013 |
| Exstrophy-Epispadias Complex |
|
Microcephaly, Hydrocephalus, Spina bifida |
ORPHA:322 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Impaired platelet aggregation |
OMIM:618372 |
| Ileal Neuroendocrine Tumor |
|
Increased serum serotonin, Small intestine carcinoid, Iron deficiency anemia, Lymphadenopathy |
ORPHA:100078 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Branchial anomaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Postaxial poly... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Branchial anomaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Postaxial poly... |
ORPHA:352665 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Toe syndactyly, Palmoplantar hyperkeratosis, Finger syndactyly, Bilateral single transverse palma... |
ORPHA:3253 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Short stature, Popliteal pterygium, Downslanted palpebral fissures |
OMIM:119800 |
| Culler-Jones Syndrome |
|
Postaxial polydactyly |
OMIM:615849 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Broad thumb, Agenesis of corpus callosum, Talipes equinovarus, Arrhythmia, 2-3 finger syndactyly,... |
OMIM:312870 |
| Developmental And Epileptic Encephalopathy 100 |
|
Short palpebral fissure, Hypoplastic fingernail, Dysphagia, Motor stereotypy, Synophrys |
OMIM:619777 |
| Cardiofaciocutaneous Syndrome |
|
High palate, Long philtrum, Submucous cleft hard palate |
ORPHA:1340 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Downslanted palpebral fissures, Long eyelashes, Frontal upsweep of hair, Astigmatism, Aggressive ... |
OMIM:614756 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Down-sloping shoulders, Broad palm, Metatarsus adductus, Camptodactyly, Clinodactyly of the 5th f... |
OMIM:227330 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy... |
OMIM:618820 |
| Nail-Patella Syndrome |
|
Nephritis, High anterior hairline, Toenail dysplasia, Fingernail dysplasia, Abnormal iris pigment... |
ORPHA:2614 |
| Robinow Syndrome |
|
Mesomelia, Short distal phalanx of finger, Radioulnar dislocation, Umbilical hernia, Bifid distal... |
ORPHA:97360 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy |
ORPHA:228308 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:277180 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dental crowding, Delayed eruption of teeth, Downturned corners of mouth, Agenesis of permanent te... |
OMIM:619503 |
| Zttk Syndrome |
|
Bifid uvula, Abnormality of the dentition, Downturned corners of mouth, Narrow mouth, Submucous c... |
OMIM:617140 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Slender finger, Small hand, Congenital hip dislocation, Abnormal cortical gyration, Cerebellar ve... |
ORPHA:480880 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Broad hallux, Clinodactyly, Branchial cyst, Single transverse palmar crease, Pulmonary arterial h... |
OMIM:620186 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
| Mckusick-Kaufman Syndrome |
|
Congenital hip dislocation, Syndactyly, Mesoaxial hand polydactyly, Postaxial hand polydactyly |
OMIM:236700 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Downslanted palpebral fissures, Recurrent otitis media, Pterygium, Bilateral cryptorchidism, Lowe... |
OMIM:616462 |
| Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Elbow dislocation, Camptodactyly of finger, Micromelia, Macrocephaly, Avascula... |
ORPHA:3107 |
| Omodysplasia 1 |
|
Axillary pterygium, Rhizomelia, Popliteal pterygium, Disproportionate short-limb short stature, C... |
OMIM:258315 |
| Joubert Syndrome 6 |
|
Motor stereotypy, Bile duct proliferation |
OMIM:610688 |
| Lowe Oculocerebrorenal Syndrome |
|
Joint contracture of the hand, Finger swelling, Wrist swelling, Camptodactyly of finger, Perivent... |
OMIM:309000 |
| Marden-Walker Syndrome |
|
Bifid uvula, Narrow mouth, Submucous cleft hard palate, Cleft palate, Pyloric stenosis |
ORPHA:2461 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urinary bladder inflammation, Pterygium, Nail dystrophy, Ectropion, Recurrent skin infections |
ORPHA:79403 |
| Warburg-Cinotti Syndrome |
|
Symblepharon, Corneal neovascularization, Epicanthus, Blepharophimosis, Narrow palpebral fissure,... |
OMIM:618175 |
| Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... |
ORPHA:95430 |
| Viss Syndrome |
|
High, narrow palate, Bifid uvula, Broad uvula, Celiac disease, Intestinal malrotation, Chronic ga... |
OMIM:619472 |
| Alstrom Syndrome |
|
Polydactyly, Dilated cardiomyopathy, Hypertension, Congestive heart failure |
OMIM:203800 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
ORPHA:98784 |
| Peters-Plus Syndrome |
|
Square pelvis bone, Limited elbow movement, Agenesis of corpus callosum, Short foot, Short metaca... |
OMIM:261540 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
ORPHA:261197 |
| Rapp-Hodgkin Syndrome |
|
2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Syndactyly |
OMIM:129400 |
| Rabson-Mendenhall Syndrome |
|
Cardiomyopathy, Polydactyly |
ORPHA:769 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... |
ORPHA:1677 |
| Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Symblepharon, Telecanthus, Micropenis |
OMIM:611929 |
| Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... |
ORPHA:980 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aortic valve stenosis, Secondary microcephaly, Long hallux, Genu valgum, Hypoplasia of the corpus... |
ORPHA:261537 |
| Fraser Syndrome 3 |
|
Hydrocephalus, Cutaneous syndactyly, Short toe |
OMIM:617667 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thrombocytopenia |
ORPHA:464321 |
| Holoprosencephaly 2 |
|
Bifid uvula, Median cleft palate, Submucous cleft hard palate, Bilateral cleft palate, Median cle... |
OMIM:157170 |
| Loeys-Dietz Syndrome 2 |
|
Joint contracture of the hand, Dural ectasia, Umbilical hernia, Absent distal phalanges, Arachnod... |
OMIM:610168 |
| Truncus Arteriosus |
|
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... |
ORPHA:3384 |
| Mucopolysaccharidosis Type 3 |
|
Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve morphology, Cardiomegaly, A... |
ORPHA:581 |
| Osteogenesis Imperfecta |
|
Rhizomelia, Growth delay, Intrauterine growth retardation, Corneal opacity, Thrombocytopenia, Ost... |
ORPHA:666 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Tetraamelia Syndrome 1 |
|
Hypoplastic pelvis, Hydrocephalus, Microphthalmia |
OMIM:273395 |
| Rett Syndrome, Congenital Variant |
|
Bruxism, Tongue thrusting, Motor stereotypy |
OMIM:613454 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Cryptorchidism, Nail dysplasia, Sparse hair, Motor stereotypy |
OMIM:616682 |
| Acute Liver Failure |
|
Hepatitis, Adrenal insufficiency, Skin rash, Thrombocytopenia, Agitation |
ORPHA:90062 |
| Lymphangioleiomyomatosis |
|
Abnormal morphology of female internal genitalia, Ungual fibroma, Lymphadenopathy, Abnormality of... |
ORPHA:538 |
| Scalp-Ear-Nipple Syndrome |
|
Broad thumb, Finger syndactyly, Congestive heart failure, Supraventricular tachycardia, 2-3 toe s... |
OMIM:181270 |
| Cutis Marmorata Telangiectatica Congenita |
|
Toe syndactyly, Finger syndactyly, Telangiectasia of the skin, Short lower limbs, Abnormality of ... |
ORPHA:1556 |
| Mucolipidosis Ii Alpha/Beta |
|
Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged kidney |
OMIM:252500 |
| Yellow Fever |
|
Pancreatic hyperplasia, Leukocytosis, Skin rash, Thrombocytopenia, Neutrophilia, Acute pancreatitis |
ORPHA:99829 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Sparse lateral eyebrow, Recurrent otitis media, Stereotypical body rocking, Repetitive compulsive... |
ORPHA:513456 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Hypoplastic anterior commissure, Hyphema, Secondary microcephaly, Long hal... |
ORPHA:261552 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Treacher-Collins Syndrome |
|
Branchial fistula, Encephalocele, Microphthalmia |
ORPHA:861 |
| Mowat-Wilson Syndrome |
|
Recurrent otitis media, Cryptorchidism, Chordee, Hypospadias, Motor stereotypy, Dysphagia, Iris c... |
ORPHA:2152 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Bidirectional shunt, Broad thumb, Frontotemporal cerebral atrophy, Tricuspi... |
OMIM:619534 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
| Gardner Syndrome |
|
Adrenocortical adenoma, Prostate cancer, Pilomatrixoma, Adrenocortical carcinoma, Abnormality of ... |
ORPHA:79665 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate |
OMIM:618891 |
| Doors Syndrome |
|
Short 5th finger, Short distal phalanx of finger, Polymicrogyria, Sirenomelia, Aplasia/Hypoplasia... |
ORPHA:79500 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Cone-shaped epiphysis, Postaxial polydactyly, Short clavicles, Brachydactyly, Short long bone, Po... |
OMIM:617088 |
| Cystic Fibrosis |
|
Recurrent pneumonia, Hepatosplenomegaly, Chronic sinusitis, Pancreatitis, Bronchiectasis, Male in... |
OMIM:219700 |
| Menkes Disease |
|
Osteomyelitis, Intrauterine growth retardation, Woolly hair, Hypopigmentation of hair, Sparse hair |
ORPHA:565 |
| Restrictive Dermopathy 1 |
|
Natal tooth, Narrow mouth, Submucous cleft hard palate, Neonatal death, Stillbirth |
OMIM:275210 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Aplasia/Hypoplasia involving the shoulder musculature, Unilateral brachydactyly, Syndactyly |
ORPHA:1521 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
2-4 toe syndactyly, Cone-shaped epiphyses of the phalanges of the hand, Avascular necrosis of the... |
OMIM:150230 |
| Specc1L-Related Hypertelorism Syndrome |
|
Short toe, Finger syndactyly, Umbilical hernia, Arrhythmia, Brachydactyly, Clinodactyly of the 5t... |
ORPHA:1519 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Alopecia, Periodontitis, Uterine rupture, Telecanthus, Hypoplastic lacrimal duct, Ab... |
ORPHA:286 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cardiomegaly, Patent foramen ovale |
OMIM:620371 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Cardiomegaly, Ventricular septal defect |
ORPHA:96191 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Bifid uvula, Downturned corners of mouth, Submucous cleft soft palate, Smooth philtrum, Thin verm... |
ORPHA:500150 |
| Loeys-Dietz Syndrome 1 |
|
Dural ectasia, Arachnodactyly, Talipes equinovarus, Postaxial polydactyly, Hydrocephalus, Postaxi... |
OMIM:609192 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:365 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Genu varum |
ORPHA:1969 |
| Bardet-Biedl Syndrome |
|
Fifth finger distal phalanx clinodactyly, Finger syndactyly, Cardiomyopathy, Postaxial polydactyl... |
ORPHA:110 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatomegaly, Enlarged kidney |
OMIM:130650 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology |
ORPHA:97297 |
| Developmental And Epileptic Encephalopathy 2 |
|
Motor stereotypy |
OMIM:300672 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Bifid uvula, Neoplasm of the tongue, Submucous cleft hard palate |
ORPHA:3047 |
| Mowat-Wilson Syndrome |
|
Abnormal corpus callosum morphology, Aplasia/Hypoplasia of the cerebral white matter, Hypoplasia ... |
OMIM:235730 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Bifid uvula, Cleft palate, Submucous cleft hard palate, Thick vermilion border |
ORPHA:2636 |
| Wiedemann-Rautenstrauch Syndrome |
|
Abnormality of the dentition, Natal tooth, Downturned corners of mouth, Narrow mouth, Submucous c... |
ORPHA:3455 |
| Kyphomelic Dysplasia |
|
Pterygium, Disproportionate short stature |
OMIM:211350 |
| Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... |
ORPHA:75565 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Bifid uvula, Cleft upper lip, Long philtrum, Submucous cleft hard palate, Orofacial cleft, Abnorm... |
OMIM:607872 |
| Exercise-Induced Malignant Hyperthermia |
|
Thrombocytopenia |
ORPHA:466650 |
| Hennekam Syndrome |
|
Pachygyria, Finger syndactyly, Camptodactyly of finger |
ORPHA:2136 |
| Lethal Congenital Contracture Syndrome 9 |
|
Antecubital pterygium, Intrauterine growth retardation, Axillary pterygium |
OMIM:616503 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Recurrent otitis media, Disproportionate short-limb short stature, Antecubital pterygium |
ORPHA:2502 |
| Restrictive Dermopathy |
|
Microcolon, Natal tooth, Narrow mouth, Submucous cleft hard palate |
ORPHA:1662 |
| Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged ki... |
ORPHA:116 |
| Williams Syndrome |
|
Hypertrophic cardiomyopathy, Tetralogy of Fallot, Mitral valve prolapse, Ventricular septal defec... |
ORPHA:904 |
| Nmda Receptor Encephalitis |
|
Testicular teratoma, Ovarian teratoma, Neoplasm of the thymus, Motor stereotypy, Agitation, Hyper... |
ORPHA:217253 |
| Kanzaki Disease |
|
Tortuosity of conjunctival vessels |
OMIM:609242 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... |
OMIM:182250 |
| Generalized Arterial Calcification Of Infancy |
|
Cardiomegaly, Ventricular hypertrophy, Pericardial effusion, Myocardial calcification |
ORPHA:51608 |
