| Thyroid Hormone Metabolism, Abnormal, 3 |
|
Abnormal circulating free T3 concentration, Abnormal circulating free T4 concentration, Abnormal ... |
OMIM:620198 |
| Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hypothalamic lute... |
ORPHA:231720 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Delayed puberty, Central adrenal insufficiency, Small pituitary gland, Hypogonadotropic hypogonadism |
OMIM:612079 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Genu valgum |
OMIM:614880 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Hip dysplasia, Primary amenorrhea, Central hypothyroidism, Small pituitary gland, Hypothalamic lu... |
ORPHA:398079 |
| Panhypophysitis |
|
Decreased male libido, Adrenocorticotropic hormone deficiency, Abnormal size of pituitary gland, ... |
ORPHA:95513 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Anterior pituitary hypoplasia, Truncal obesity, Decreased response to growth hormone stimulation ... |
OMIM:618160 |
| Adenohypophysitis |
|
Abnormal thalamic MRI signal intensity, Decreased serum testosterone concentration, Adrenocortico... |
ORPHA:95512 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Delayed puberty, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Hypogonadotropic hypo... |
OMIM:612702 |
| Isolated Growth Hormone Deficiency, Type Iv |
|
Impaired growth-hormone response to insulin stimulation test, Decreased response to growth hormon... |
OMIM:618157 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Reduced circulating growth hormone concentration, Hypopituitarism, Impaired growth-hormone respon... |
OMIM:613038 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Delayed puberty, Primary amenorrhea, Abnormal eyebrow morphology, Contracture of the proximal int... |
ORPHA:2232 |
| Thyroid Hormone Metabolism, Abnormal, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
OMIM:609698 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Decreased testicular size, Cryptorchidism, Hip dysplasia, Hypogonadism, Central hypothyroidism, P... |
ORPHA:398069 |
| Pituitary Carcinoma |
|
Hypopituitarism, Hyperpituitarism, Elevated circulating growth hormone concentration, Pituitary p... |
ORPHA:300385 |
| Potocki-Shaffer Syndrome |
|
Delayed puberty, Epicanthus, Brachycephaly, Anemia, Hypothyroidism, Parietal foramina |
ORPHA:52022 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Epicanthus, Brachycephaly, Upslanted palpebral fissure, Hypogonadism |
ORPHA:2528 |
| Sheehan Syndrome |
|
Central adrenal insufficiency, Adrenocorticotropic hormone deficiency, Abnormal size of pituitary... |
ORPHA:91355 |
| Prader-Willi Syndrome |
|
Hip dysplasia, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Central adrenal ins... |
ORPHA:739 |
| Septooptic Dysplasia |
|
Short finger, Polydactyly, Diabetes insipidus, Decreased response to growth hormone stimulation t... |
OMIM:182230 |
| Pituicytoma |
|
Hypopituitarism, Abnormal circulating adrenocorticotropin concentration, Increased circulating pr... |
ORPHA:251623 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Epicanthus, Brachycephaly, Synophrys, Obesity, Tapered finger, Horizontal eyebrow, Congenital hyp... |
ORPHA:352530 |
| Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Decreased s... |
OMIM:173100 |
| Pituitary Hormone Deficiency, Combined, 3 |
|
Anterior hypopituitarism, Decreased response to growth hormone stimulation test, Anterior pituita... |
OMIM:221750 |
| Cohen Syndrome |
|
Delayed puberty, Small for gestational age, Leukopenia, Downslanted palpebral fissures, Short met... |
OMIM:216550 |
| X-Linked Acrogigantism |
|
Delayed puberty, Hypopituitarism, Elevated circulating growth hormone concentration, Abnormality ... |
ORPHA:300373 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Neutropenia |
OMIM:616022 |
| Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Oligomenorrhea, Hyperpituitarism, Increased circulating prolactin concentration, Hypogonadism, Ne... |
ORPHA:91351 |
| Pierpont Syndrome |
|
Short finger, Narrow palpebral fissure, Cryptorchidism, Brachycephaly, Unilateral narrow palpebra... |
OMIM:602342 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Hypothyroidism |
OMIM:275120 |
| Tsh-Secreting Pituitary Adenoma |
|
Delayed puberty, Abnormality of the pituitary gland, Central adrenal insufficiency, Elevated circ... |
ORPHA:91347 |
| Culler-Jones Syndrome |
|
Hypopituitarism, Cryptorchidism, Hypogonadism, Postaxial polydactyly, Diabetes insipidus, Midface... |
OMIM:615849 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia |
OMIM:618310 |
| Neutropenia, Chronic Familial |
|
Clubbing of fingers, Clubbing, Neutropenia |
OMIM:162700 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal thyroi... |
OMIM:616113 |
| Lig4 Syndrome |
|
Small for gestational age, Cryptorchidism, Epicanthus, Brachycephaly, Acute lymphoblastic leukemi... |
OMIM:606593 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Delayed puberty, Hip dysplasia, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Ce... |
ORPHA:98754 |
| Joubert Syndrome 38 |
|
Epicanthus, Small pituitary gland, Decreased response to growth hormone stimulation test, Ectopic... |
OMIM:619476 |
| Meningioma |
|
Focal T2 hypointense thalamic lesion, Increased circulating prolactin concentration, Obesity, Neo... |
ORPHA:2495 |
| Ane Syndrome |
|
Delayed puberty, Adrenocorticotropin deficient adrenal insufficiency, Abnormal response to ACTH s... |
ORPHA:157954 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Prader-Willi-Like Syndrome |
|
Delayed puberty, Epicanthus, Hip dysplasia, Primary amenorrhea, Central hypothyroidism, Diabetes ... |
ORPHA:398073 |
| Hemochromatosis, Type 3 |
|
Anemia, Lymphopenia, Impotence, Amenorrhea, Hypogonadotropic hypogonadism, Neutropenia |
OMIM:604250 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Delayed puberty, Hip dysplasia, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Ce... |
ORPHA:98793 |
| Fg Syndrome Type 1 |
|
Craniosynostosis, Plagiocephaly, Cryptorchidism, Slender build, Clinodactyly of the 2nd finger, D... |
ORPHA:93932 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
| Cornelia De Lange Syndrome 5 |
|
Decreased testicular size, Cryptorchidism, Long eyelashes, Brachycephaly, Hypogonadism, Proximal ... |
OMIM:300882 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Delayed puberty, Hip dysplasia, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Ce... |
ORPHA:177904 |
| Acromelic Frontonasal Dysplasia |
|
Hypopituitarism, Telecanthus, Cryptorchidism, Brachycephaly, Patellar hypoplasia, Preaxial foot p... |
ORPHA:1827 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Delayed puberty, Hip dysplasia, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Ce... |
ORPHA:177901 |
| Cog2-Cdg |
|
Small pituitary gland |
ORPHA:435934 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland |
OMIM:617395 |
| Potocki-Shaffer Syndrome |
|
Epicanthus, Brachycephaly, Turricephaly, Downslanted palpebral fissures, Sparse lateral eyebrow, ... |
OMIM:601224 |
| Non-Distal Duplication 10Q |
|
Cryptorchidism, Brachycephaly, Downslanted palpebral fissures, Frontal bossing, Blepharophimosis |
ORPHA:1695 |
| Chromosome 2Q37 Deletion Syndrome |
|
Type E brachydactyly, Narrow palpebral fissure, Brachycephaly, Short fourth metatarsal, Short met... |
OMIM:600430 |
| Craniopharyngioma |
|
Delayed puberty, Hypopituitarism, Hypogonadism, Abnormal hypothalamus morphology, Increased circu... |
ORPHA:54595 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Central hypothyroidism, Decreased circulating follicle stimulating hor... |
ORPHA:453533 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Calvarial hyperostosis, Epicanthus, Elevated circulating parathyroid hormone level, Short metatar... |
OMIM:101800 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone level, Decreased circula... |
OMIM:301033 |
| Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Synophrys, Long eyelashes, Anterior pituitary hypoplasia, Pituitary hypothyroidism |
OMIM:619983 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Death in childhood, Metaphyseal chondrodysplasia, Lymphopenia |
OMIM:200900 |
| Lig4 Syndrome |
|
Biparietal narrowing, Cryptorchidism, Leukocytosis, Epicanthus, Brachycephaly, Hypothyroidism, Up... |
ORPHA:99812 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypopituitarism, Delayed proximal femoral epiphyseal ossification, Anterior pituitary hypoplasia,... |
ORPHA:226307 |
| Aminopterin Syndrome Sine Aminopterin |
|
Narrow palpebral fissure, Rudimentary postaxial polydactyly of hands, Cryptorchidism, Brachycepha... |
OMIM:600325 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Small for gestational age, Epicanthus, Brachycephaly, Downslanted palpebral fissures, Thick eyebr... |
OMIM:615834 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Pierpont Syndrome |
|
Short finger, Narrow palpebral fissure, Small for gestational age, Cryptorchidism, Brachycephaly,... |
ORPHA:487825 |
| Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Abnormality of the pituitary gland, Central adrenal insufficiency, Abnormality o... |
ORPHA:91349 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Delayed puberty, Hypoplasia of the ovary, Primary amenorrhea, Breast hypoplasia, Obesity, Decreas... |
ORPHA:2235 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Anemia, Failure to thrive, Thrombocytopenia, Splenomega... |
OMIM:615285 |
| Congenital Myopathy 13 |
|
Cryptorchidism, Brachycephaly, Downslanted palpebral fissures, Short palpebral fissure, Midface r... |
OMIM:255995 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Death in infancy, Anemia |
OMIM:619302 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia, Death in infancy |
OMIM:619301 |
| Immunodeficiency 53 |
|
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive |
OMIM:617585 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Brachycephaly, Hypogonadism, Supernumerary nipple, Decreased fertility, Abnormality of the hypoth... |
ORPHA:1173 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Failure to thrive, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Gomez-Lopez-Hernandez Syndrome |
|
Craniosynostosis, Brachycephaly, Wide anterior fontanel, Downslanted palpebral fissures, Decrease... |
OMIM:601853 |
| Gómez-López-Hernández Syndrome |
|
Midface retrusion, Brachycephaly, Telecanthus, Turricephaly |
ORPHA:1532 |
| Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Long eyelashes, Cryptorchidism, Brachycephaly, Decreased response to g... |
OMIM:609757 |
| Laurence-Moon Syndrome |
|
Epicanthus, Hand polydactyly, Cryptorchidism, Brachycephaly, Obesity, Finger syndactyly, Type II ... |
ORPHA:2377 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Small for gestational age, Cryptorchidism, Epicanthus, Brachycephaly, Postaxial polydactyly, Syno... |
OMIM:613792 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia, Neonatal death |
OMIM:257100 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating cortisol level, Autoim... |
ORPHA:293978 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Plagiocephaly, Decreased testicular size, Cryptorchidism, Epicanthus, Brachycephaly, Proximal pla... |
OMIM:615433 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Midface retrusion, Brachycephaly, Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
| Muenke Syndrome |
|
Clinodactyly, Plagiocephaly, Coronal craniosynostosis, Brachycephaly, Thimble-shaped middle phala... |
OMIM:602849 |
| Cornelia De Lange Syndrome 2 |
|
Long eyelashes, Brachycephaly, Proximal placement of thumb, Synophrys, Downslanted palpebral fiss... |
OMIM:300590 |
| Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Polydactyly, Abnormality of neutrophils, Short 4th metacar... |
OMIM:169400 |
| Bardet-Biedl Syndrome 8 |
|
Obesity, Brachycephaly, Hypogonadism, Postaxial polydactyly |
OMIM:615985 |
| Specific Granule Deficiency 2 |
|
Death in childhood, Absent neutrophil specific granules, Anemia, Death in infancy, Failure to thr... |
OMIM:617475 |
| Webb-Dattani Syndrome |
|
Cryptorchidism, Hip dislocation, Diabetes insipidus, Decreased response to growth hormone stimula... |
OMIM:615926 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Increased circulating prola... |
ORPHA:91350 |
| Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Anemia, Failure to thrive, Conjunctivitis, Neutropenia |
OMIM:616740 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Deeah Syndrome |
|
Death in childhood, Cryptorchidism, Epicanthus, Decreased circulating free T4 concentration, Deat... |
OMIM:619004 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Decreased testicular size, Small for gestational age, Brachycephaly, Upslanted palpebral fissure,... |
ORPHA:93950 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Absent circulating B cells, Neutropenia, Failure to thrive, Abnormal T cell morphology |
OMIM:613501 |
| Non-Acquired Panhypopituitarism |
|
Delayed puberty, Hypopituitarism, Decreased testicular size, Decreased response to growth hormone... |
ORPHA:90695 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Cryptorchidism, Epicanthus, Brachycephaly, Hypogonadism, Synophrys, Downslanted palpebral fissure... |
ORPHA:3306 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Leukemia, Thrombocytopenia, Abnormal thumb morphology, Neutropenia |
OMIM:614082 |
| Trimethylaminuria |
|
Neutropenia, Splenomegaly, Anemia |
OMIM:602079 |
| Fanconi Anemia, Complementation Group I |
|
Short 1st metacarpal, Short thumb, Decreased response to growth hormone stimulation test, Hypothy... |
OMIM:609053 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Brachydactyly, Downslanted palpebral fissures, Abnormal epiphysis morphology, Neutropenia |
ORPHA:2643 |
| Acrodysostosis |
|
Cryptorchidism, Epicanthus, Brachycephaly, Hypogonadism, Abnormal morphology of ulna, Short metat... |
ORPHA:950 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Hypothyroidi... |
OMIM:618849 |
| Clark-Baraitser Syndrome |
|
Narrow palpebral fissure, Epicanthus, Brachycephaly, Upslanted palpebral fissure, Dolichocephaly,... |
OMIM:617752 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Anemia, Thrombocytopenia, Conjunctivitis, Splenomegaly, Neutropenia |
OMIM:603552 |
| Shwachman-Diamond Syndrome |
|
Hypopituitarism, Metaphyseal chondrodysplasia, Diabetes mellitus, Macrocytic anemia, Proximal fem... |
ORPHA:811 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Craniosynostosis, Cryptorchidism, Brachycephaly, Obesity, Toe syndactyly, Radioulnar synostosis, ... |
ORPHA:171839 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Cryptorchidism, Long eyelashes, Brachycephaly, Midface retrusion, Clinodactyly, Un... |
OMIM:618577 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... |
ORPHA:75564 |
| Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... |
OMIM:301082 |
| Pde4D Haploinsufficiency Syndrome |
|
Elevated circulating parathyroid hormone level, Short metatarsal, Short toe, Cone-shaped epiphysi... |
ORPHA:439822 |
| Septo-Optic Dysplasia Spectrum |
|
Maternal diabetes, Cryptorchidism, Hypohidrosis, Diabetes insipidus, Abnormality of the hypothala... |
ORPHA:3157 |
| Carpenter Syndrome 1 |
|
Epicanthus, Polysplenia, Preaxial foot polydactyly, Aplasia/Hypoplasia of the middle phalanges of... |
OMIM:201000 |
| Developmental And Epileptic Encephalopathy 66 |
|
Cryptorchidism, Anemia, Synophrys, Downslanted palpebral fissures, Clinodactyly of the 5th finger... |
OMIM:618067 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal distal phalanx morphology of finger, Cryptorchidism, Ulnar deviation of finger, Brachyce... |
ORPHA:1387 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Anterior pituitary hypoplasia, Decreased response t... |
ORPHA:67045 |
| 14Q22Q23 Microdeletion Syndrome |
|
Adrenal hypoplasia, Cryptorchidism, Epicanthus, Brachycephaly, Diabetes insipidus, Downslanted pa... |
ORPHA:264200 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... |
OMIM:202700 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Short middle phalanx of the 4th finger, Overlapping fingers, Anemia, Congenital thrombocytopenia,... |
OMIM:616738 |
| Ritscher-Schinzel Syndrome 1 |
|
Adrenal hypoplasia, Brachycephaly, Downslanted palpebral fissures, Syndactyly, Decreased response... |
OMIM:220210 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Plagiocephaly, Cryptorchidism, Epicanthus, Short palpebral fissure, Elevated circulating thyroid-... |
OMIM:613457 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Goiter, Small for gestational age, Diabetes mellitus, Compensated hypothyroidism, Impaired sensit... |
OMIM:274300 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Pancreatitis, Failure to thrive, Thrombocytopenia, Splenomegaly, Neutropenia |
ORPHA:79312 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Elevated circulating thyroid-stimulating hormone concentration, Hypergonadotro... |
OMIM:617872 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Pancytopenia, Lymphocytosis, Monocytosis... |
OMIM:614470 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachycephaly, Flat occiput, Abnormal finger morphology, Large iliac wing, Abnormal metacarpal mo... |
ORPHA:2511 |
| Craniofrontonasal Dysplasia |
|
Congenital pseudoarthrosis of the clavicle, Down-sloping shoulders, Camptodactyly of finger, Hand... |
ORPHA:1520 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Delayed puberty, Hypopituitarism, Decreased testicular size, Anterior pituitary agenesis, Polydac... |
ORPHA:95494 |
| Schimke Immunoosseous Dysplasia |
|
Small for gestational age, Anemia, Neutropenia, Lymphopenia, Elevated circulating thyroid-stimula... |
OMIM:242900 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Down-sloping shoulders, Cryptorchidism, Long eyelashes, Brachycephaly, Overlapping toe, Flat occi... |
OMIM:617452 |
| Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Cryptorchidism, Long eyelashes, Brachycephaly, Overlapping toe, Flat occiput, Downslanted palpebr... |
ORPHA:505237 |
| Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Diabetes mellitus, Diabetes insipidus, Sideroblastic anemia, Thrombocytopen... |
OMIM:598500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Slender build, Brachycephaly |
OMIM:300699 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Adenylosuccinate Lyase Deficiency |
|
Flat occiput, Brachycephaly |
ORPHA:46 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Small pituitary gland, Bowed humerus, Short long bone, Frontal bos... |
OMIM:619479 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Plagiocephaly, Epicanthus, Brachycephaly, Downslanted palpebral fissures, Failure to thrive in in... |
OMIM:616801 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Autoimmune thrombocytopenia, Neutropenia, Eosinophilia, Failure to thrive, Thrombocytopen... |
OMIM:304790 |
| Congenital Disorder Of Glycosylation, Type Iiy |
|
Brachycephaly, Hip subluxation |
OMIM:620200 |
| Trichothiodystrophy 3, Photosensitive |
|
Trigonocephaly, Ectropion, Lymphopenia, Failure to thrive, Bilateral cryptorchidism, Neutropenia |
OMIM:616395 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Absent circulating B cells, Transient neutropenia, Type I diabetes mellitus |
OMIM:619707 |
| Transcobalamin Deficiency |
|
Thrombocytopenia, Pancytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
| 48,Xxxy Syndrome |
|
Down-sloping shoulders, Decreased testicular size, Cryptorchidism, Epicanthus, Hip dislocation, H... |
ORPHA:96263 |
| Ataxia-Pancytopenia Syndrome |
|
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... |
OMIM:159550 |
| Cebalid Syndrome |
|
Plagiocephaly, Brachycephaly, Downslanted palpebral fissures, Platystencephaly, Thick eyebrow, Mi... |
OMIM:618774 |
| Gorlin Syndrome |
|
Cryptorchidism, Epicanthus, Brachycephaly, Frontal bossing, Hypogonadotropic hypogonadism, Arachn... |
ORPHA:377 |
| Shwachman-Diamond Syndrome 2 |
|
Death in childhood, Exocrine pancreatic insufficiency, Normocytic anemia, Genu varum, Metaphyseal... |
OMIM:617941 |
| 8Q12 Microduplication Syndrome |
|
Telecanthus, Epicanthus, Brachycephaly, Highly arched eyebrow, Long palpebral fissure, Short foot |
ORPHA:228399 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Overweight, Hypothyroidi... |
OMIM:300888 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Cryptorchidism, Hip dysplasia, Clinodactyly of the 2nd finger, Brachycephaly, Coxa valga, Upslant... |
OMIM:620073 |
| Prolactinoma |
|
Delayed puberty, Abnormality of the pituitary gland, Central adrenal insufficiency, Abnormality o... |
ORPHA:2965 |
| Bone Marrow Failure Syndrome 3 |
|
Exocrine pancreatic insufficiency, Cryptorchidism, Epicanthus, Congenital hip dislocation, Aplast... |
OMIM:617052 |
| Immunodeficiency 21 |
|
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... |
OMIM:614172 |
| Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Small for gestational age, Wide capital femoral epiphy... |
ORPHA:1830 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial foot polydactyly, Cryptorchidism, Brachycephaly, Bilateral ptosis, Postaxial polydactyl... |
ORPHA:404440 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Brachycephaly, Postaxial polydactyly, Synophrys, Downslanted palpebral fissures, Upslanted palpeb... |
OMIM:615761 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Small pituitary gland |
OMIM:614195 |
| Semilobar Holoprosencephaly |
|
Hip dislocation, Central hypothyroidism, Diabetes insipidus, Decreased response to growth hormone... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Hip dislocation, Central hypothyroidism, Diabetes insipidus, Decreased response to growth hormone... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hip dislocation, Central hypothyroidism, Diabetes insipidus, Decreased response to growth hormone... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Hip dislocation, Central hypothyroidism, Diabetes insipidus, Decreased response to growth hormone... |
ORPHA:93924 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Plagiocephaly, Hip dysplasia, Brachycephaly, Upslanted palpebral fissure, Tapered finger, Promine... |
OMIM:618672 |
| Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia, Decreased response to growth hormone stimulation test, Proximal pl... |
OMIM:618624 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... |
ORPHA:169154 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal sclerosis, Metaphyseal widening, Autoimmune thrombocytopenia, Turricephaly, Neutropen... |
OMIM:607944 |
| Kallmann Syndrome |
|
Delayed puberty, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Breast hypoplasia... |
ORPHA:478 |
| Hamamy Syndrome |
|
Craniosynostosis, Down-sloping shoulders, Cryptorchidism, Hip dysplasia, Brachycephaly, Sparse ey... |
OMIM:611174 |
| Down Syndrome |
|
Epicanthus, Acute megakaryocytic leukemia, Brachycephaly, Obesity, Upslanted palpebral fissure, C... |
ORPHA:870 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Short distal phalanx of finger, Epicanthus, Camptodactyly of finger, Hallux valgus, Brachycephaly... |
ORPHA:1327 |
| Shwachman-Diamond Syndrome 1 |
|
Exocrine pancreatic insufficiency, Metaphyseal chondrodysplasia, Small for gestational age, Metap... |
OMIM:260400 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Calvarial skull defect, Cryptorchidism, Coronal craniosynostosis, Brachycephaly, Hypogonadism, Up... |
ORPHA:228390 |
| German Syndrome |
|
Camptodactyly of finger, Cryptorchidism, Brachycephaly, Abnormal eyebrow morphology, Synophrys, D... |
ORPHA:2077 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Brachycephaly, Anemia, Metaphyseal cu... |
OMIM:250250 |
| Prader-Willi Syndrome Due To Translocation |
|
Anterior pituitary hypoplasia, Overlapping toe, Obesity, Flat occiput, Decreased response to grow... |
ORPHA:177907 |
| Fanconi Anemia, Complementation Group A |
|
Small for gestational age, Cryptorchidism, Absent radius, Short thumb, Anemia, Leukemia, Reticulo... |
OMIM:227650 |
| Post-Traumatic Pituitary Deficiency |
|
Delayed puberty, Decreased testicular size, Decreased response to growth hormone stimulation test... |
ORPHA:95619 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Cryptorchidism, Lacrimal duct stenosis, Hyperextensibility of the finger joints, Syndactyly, Prox... |
OMIM:151050 |
| Wolcott-Rallison Syndrome |
|
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Central hypothyr... |
ORPHA:1667 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Thickened calvaria, Brachycephaly |
ORPHA:178377 |
| Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Downslanted palpebral fissures, Brachycephaly, Bilateral ptosis |
OMIM:618859 |
| Craniosynostosis 6 |
|
Craniosynostosis, Bicoronal synostosis, Plagiocephaly, Brachycephaly, Turricephaly, Right unilamb... |
OMIM:616602 |
| Rothmund-Thomson Syndrome Type 1 |
|
Premature ovarian insufficiency, Cryptorchidism, Patellar aplasia, Metaphyseal sclerosis, Aplasti... |
ORPHA:221008 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased proportion of class-switched memory B cells, Chronic neutropenia, Autoimmune thrombocyt... |
OMIM:614700 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Upslanted palpebral fissure, Highly arched eyebrow, Broad finger, Sparse eyebrow, Dolichocephaly,... |
OMIM:619841 |
| 3P25.3 Microdeletion Syndrome |
|
Congenital pseudoarthrosis of the clavicle, Epicanthus, 2-3 finger syndactyly, Brachycephaly, Pro... |
ORPHA:435638 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Oligomenorrhea, Hypopituitarism, Increased circulating prolactin concentration, Decreased respons... |
ORPHA:91354 |
| 19P13.12 Microdeletion Syndrome |
|
Craniosynostosis, Cryptorchidism, Epicanthus, Brachycephaly, Synophrys, Obesity, Finger syndactyl... |
ORPHA:254346 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Plagiocephaly, Brachycephaly, Postaxial polydactyly, Tapered finger, Failure to thrive, Broad thu... |
OMIM:619721 |
| 2Q32Q33 Microdeletion Syndrome |
|
Decreased testicular size, Brachycephaly, Downslanted palpebral fissures, Clinodactyly of the 5th... |
ORPHA:251019 |
| Cohen Syndrome |
|
Delayed puberty, Long eyelashes, Cryptorchidism, Abnormal eyelash morphology, Obesity, Downslante... |
ORPHA:193 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Chromosome 5P13 Duplication Syndrome |
|
Craniosynostosis, Small for gestational age, Epicanthus, Brachycephaly, Upslanted palpebral fissu... |
OMIM:613174 |
| Immunodeficiency 52 |
|
Death in childhood, Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Dea... |
OMIM:617514 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
| Functioning Gonadotropic Adenoma |
|
Delayed puberty, Isosexual precocious puberty, Abnormality of the menstrual cycle, Adrenocorticot... |
ORPHA:91348 |
| Smith-Magenis Syndrome |
|
Delayed puberty, Hand polydactyly, Brachycephaly, Synophrys, Obesity, Failure to thrive in infanc... |
ORPHA:819 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Frontal bossing, Brachycephaly |
OMIM:264470 |
| 49,Xxxxy Syndrome |
|
Down-sloping shoulders, Decreased testicular size, Cryptorchidism, Epicanthus, Hip dislocation, H... |
ORPHA:96264 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Narrow palpebral fissure, Epicanthus, Long eyelashes, Brachycephaly, Synophrys, Downslanted palpe... |
OMIM:618828 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Plagiocephaly, Camptodactyly, Cryptorchidism, Epicanthus, Brachycephaly, Syndactyly, Upslanted pa... |
ORPHA:369891 |
| Fanconi Anemia, Complementation Group E |
|
Small for gestational age, Cryptorchidism, Absent radius, Short thumb, Anemia, Leukemia, Reticulo... |
OMIM:600901 |
| Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Thrombocytopenia, Normochr... |
ORPHA:98826 |
| 2Q23.1 Microdeletion Syndrome |
|
Cryptorchidism, Hip dysplasia, Brachycephaly, Synophrys, Highly arched eyebrow, Short palm, Sanda... |
ORPHA:228402 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... |
OMIM:619041 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Acute lymphoblastic leukemia, Neutropenia, Reduced ... |
ORPHA:158057 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Decreased testicular size, Cryptorchidism, Epicanthus, Camptodactyly, Hypogonadism, Brachycephaly... |
OMIM:612513 |
| Monosomy 18P |
|
Epicanthus, Brachycephaly, Hypothyroidism, Ptosis, Brachydactyly |
ORPHA:1598 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Camptodactyly, Clinodac... |
ORPHA:228426 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Epicanthus, Brachycephaly, Flattened epiphysis, Flat acetabular roof, Wide anterior fontanel, Cox... |
ORPHA:163649 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Delayed puberty, Abnormal metacarpophalangeal joint morphology, Primary amenorrhea, Metatarsal sy... |
ORPHA:95699 |
| Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Cryptorchidism, Epicanthus, Absent radius, Short thumb, Anemia, Leukem... |
OMIM:227645 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Epicanthus, Brachycephaly, Upslanted palpebral fissure, Horizontal eyebrow, Prominent fingertip p... |
OMIM:615828 |
| Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Brachycephaly, Downslanted palpebral fissures, Small hand, Iron deficiency anemia, Sandal gap, Pi... |
OMIM:618885 |
| Pontocerebellar Hypoplasia, Type 3 |
|
Long palpebral fissure, Decreased body weight, Brachycephaly |
OMIM:608027 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hemolytic anemia, Small pituitary gland, Thick eyebrow, Upslanted palpebral fissure, Dolichocepha... |
OMIM:619503 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Cryptorchidism, Testicular atrophy, Eunuchoid habitus, Decreased circulating follicle stimulating... |
OMIM:308750 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Brachycephaly, Supernumerary nipple, Synophrys, Upslanted palpebral fissure, Ptosis |
OMIM:616083 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Cryptorchidism, Primary amenorrhea, Decreased serum estradiol, Hypothala... |
OMIM:618841 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Craniosynostosis, Brachycephaly, Downslanted palpebral fissures, Bilateral cryptorchidism, Fronta... |
ORPHA:314575 |
| Pediatric-Onset Graves Disease |
|
Graves disease, Goiter, Neutropenia in presence of anti-neutropil antibodies, Craniosynostosis, P... |
ORPHA:525731 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Bicoronal synostosis, Brachycephaly, Flat occiput, Downslanted palpebral fissures, Lambdoidal cra... |
OMIM:618736 |
| Trichohepatoneurodevelopmental Syndrome |
|
Epicanthus, Hip dislocation, Hip dysplasia, Hypoplastic nipples, Hypothyroidism, Cholelithiasis, ... |
OMIM:618268 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Genu varum, Metaphyseal widening, Delayed ossification of carpal bones, Metaphyseal striations, M... |
OMIM:271510 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Epicanthus, Brachycephaly, Hashimoto thyroiditis, Hypoparathyroidism, Decreased response to growt... |
OMIM:618223 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Flat occiput, Thrombocytopenia, Clinodactyly, Neutropenia |
OMIM:603585 |
| Hypogonadism-Cataract Syndrome |
|
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... |
OMIM:240950 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Failure to thrive, Thrombocytopenia, Normochromic anemia, Neutropenia |
OMIM:614857 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Neutropenia, Acute myeloid leukemia |
OMIM:607847 |
| Propionic Acidemia |
|
Anemia, Pancreatitis, Failure to thrive, Thrombocytopenia, Pancytopenia, Neutropenia |
OMIM:606054 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Death in childhood, Telecanthus, Epicanthus, Long eyelashes, Leukopenia, Clubbing, Anemia, Synoph... |
OMIM:617303 |
| Pgm3-Cdg |
|
Neutropenia in presence of anti-neutropil antibodies, Narrow palpebral fissure, Leukopenia, Hemol... |
ORPHA:443811 |
| Pseudodiastrophic Dysplasia |
|
Camptodactyly, Brachycephaly, Failure to thrive, Midface retrusion, Frontal bossing, Phalangeal d... |
OMIM:264180 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Brachycephaly |
ORPHA:2898 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Camptodactyly, Brachycephaly, Downslanted palpebral fissures, Midface retrusion, Adducted thumb, ... |
OMIM:615539 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
| Graves Disease, Susceptibility To, 1 |
|
Graves disease, Goiter, Increased circulating free T3, Decreased thyroid-stimulating hormone leve... |
OMIM:275000 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abscess, Neutropenia, B lymphocytopenia, Splenomegaly, Abnormal CD... |
OMIM:150550 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Plagiocephaly, Cryptorchidism, Brachycephaly, Upslanted palpebral fissure, Clinodactyly, Frontal ... |
OMIM:616789 |
| Poikiloderma With Neutropenia |
|
Leukopenia, Blepharitis, Midface retrusion, Sparse lateral eyebrow, Sparse eyebrow, Nasolacrimal ... |
OMIM:604173 |
| Acrofrontofacionasal Dysostosis |
|
Short distal phalanx of finger, Camptodactyly of finger, Brachycephaly, Eyelid coloboma, Downslan... |
ORPHA:1784 |
| Acute Promyelocytic Leukemia |
|
Leukocytosis, Leukopenia, Anemia, Metrorrhagia, Thrombocytopenia, Pancytopenia, Weight loss, Neut... |
ORPHA:520 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Pancreatitis, Failure to thrive, Thrombocytopenia, Neutropenia |
OMIM:251000 |
| 2P15P16.1 Microdeletion Syndrome |
|
Decreased testicular size, Epicanthus, Long eyelashes, Camptodactyly of finger, Hypogonadism, Bra... |
ORPHA:261349 |
| Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Brachycephaly, Synophrys, Midface retrusion, Short palm, Increa... |
OMIM:182290 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Narrow palpebral fissure, Plagiocephaly, Epicanthus, Hallux valgus, Hip dysplasia, Brachycephaly,... |
OMIM:613776 |
| Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Leukemia, Abnormal mast cell morphology, Thrombocytopen... |
ORPHA:98850 |
| Bdv Syndrome |
|
Delayed puberty, Cryptorchidism, Reduced TSH response to thyrotrophin-releasing hormone stimulati... |
OMIM:619326 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Testicular atrophy, Eunuchoid habitus, Decreased circu... |
OMIM:308700 |
| Frontonasal Dysplasia 2 |
|
Craniosynostosis, Calvarial skull defect, Hypohidrosis, Brachycephaly, Sparse eyelashes, Upslante... |
OMIM:613451 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Epicanthus, Brachycephaly, Flat occiput, Arachnodactyly, Upslanted palpebral fissure, Short palpe... |
ORPHA:2707 |
| Diamond-Blackfan Anemia 11 |
|
Unilateral radial aplasia, Eyelid coloboma, Anemia of inadequate production, Radioulnar synostosi... |
OMIM:614900 |
| Prolactin Deficiency, Isolated |
|
Infertility, Reduced circulating prolactin concentration, Irregular menstruation |
OMIM:264110 |
| Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Hepatosplenomegaly, Leukopenia, Lymphopenia, Impaired neutrophil chemotaxis, T lymphocytopenia, B... |
OMIM:618986 |
| Gangliocytoma |
|
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Abnormality ... |
ORPHA:251937 |
| Even-Plus Syndrome |
|
Brachycephaly, Synophrys, Dysplasia of the femoral head, Midface retrusion, Highly arched eyebrow... |
OMIM:616854 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Plagiocephaly, Epicanthus, Brachycephaly, Tapered finger, Clinodactyly of the 5th finger, Midface... |
OMIM:618430 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Delayed puberty, Exocrine pancreatic insufficiency, Ulnar deviation of the 3rd finger, Congenital... |
ORPHA:456312 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
2-3 toe cutaneous syndactyly, Cryptorchidism, Epicanthus, Brachycephaly, Upslanted palpebral fiss... |
OMIM:300260 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Brachycephaly, Broad thumb, Frontal bossing, Medial flaring of the eyebrow, 2-3 toe cutaneous syn... |
OMIM:617364 |
| Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Maternal diabetes, Miscarriage |
ORPHA:464370 |
| Craniodigital-Intellectual Disability Syndrome |
|
Long eyelashes, Brachycephaly, Finger syndactyly, Thick eyebrow, Spina bifida occulta |
ORPHA:1514 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Neutropenia |
OMIM:618752 |
| Ulnar-Mammary Syndrome |
|
Delayed puberty, Hypoplastic nipples, Short 5th finger, Hypoplasia of the radius, Anterior pituit... |
OMIM:181450 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Leukemia, Acute lymphoblastic leukemia, Neutropenia, Lymphopenia, Eosinophilia, ... |
ORPHA:486 |
| Martsolf Syndrome 1 |
|
Osteopathia striata, Slender ulna, Cryptorchidism, Epicanthus, Finger joint hypermobility, Brachy... |
OMIM:212720 |
| Acromelic Frontonasal Dysostosis |
|
Hypopituitarism, Cryptorchidism, Brachycephaly, Polydactyly, Preaxial polydactyly, Downslanted pa... |
OMIM:603671 |
| Sponastrime Dysplasia |
|
Epicanthus, Hip dislocation, Metaphyseal irregularity, Flattened humeral epiphyses, Hypothyroidis... |
ORPHA:93357 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Plagiocephaly, Small for gestational age, Epicanthus, Downslanted palpebral fissures, Thick eyebr... |
OMIM:615471 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Thrombocytopenia, Pancytopenia, Lymphocytosis, Splenomegaly, N... |
OMIM:308240 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Anemia, Failure to thrive, Thrombocytopenia, Conjunctiviti... |
ORPHA:47 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Brachycephaly |
OMIM:309545 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Metaphyseal chondrodysplasia, Brachycephaly, Metaphyseal cupping, Hypoparathyroidism, Clinodactyl... |
OMIM:156400 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Brachycephaly, Failure to thrive |
OMIM:309541 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
| Fanconi Anemia, Complementation Group D2 |
|
Small for gestational age, Cryptorchidism, Absent radius, Short thumb, Anemia, Leukemia, Reticulo... |
OMIM:227646 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Ptosis, Neutropenia, Microcytic anemia, Hypothyroidism |
OMIM:251900 |
| Autosomal Agammaglobulinemia |
|
Epicanthus, Failure to thrive, Conjunctivitis, Neutropenia |
ORPHA:33110 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Brachycephaly, Abnormal metacarpal morphology, Turricephaly, Frontal bossing, Ptosis, Brachydactyly |
ORPHA:93262 |
| Crouzon Syndrome |
|
Multiple suture craniosynostosis, Brachycephaly, Midface retrusion, Turricephaly, Frontal bossing... |
ORPHA:207 |
| Intellectual Developmental Disorder, X-Linked 1 |
|
Brachycephaly |
OMIM:309530 |
| Isolated Exencephaly |
|
Maternal diabetes, Abnormal calvaria morphology, Hypoplasia of the frontal bone, Posterior pituit... |
ORPHA:563612 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Plagiocephaly, Cryptorchidism, Overweight, Hip dysplasia, Hypogonadism, Brachycephaly, Failure to... |
ORPHA:500055 |
| Muenke Syndrome |
|
Plagiocephaly, Coronal craniosynostosis, Brachycephaly, Carpal synostosis, Short palm, Short foot... |
ORPHA:53271 |
| Desanto-Shinawi Syndrome |
|
Synophrys, Brachycephaly, Thick eyebrow, Midface retrusion |
OMIM:616708 |
| Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Brachycephaly, Brachyturricephaly, Abnormal shape of the occiput, Midface retrusi... |
OMIM:218350 |
| Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Plagiocephaly, Brachycephaly, Upslanted palpebral fissure, Unilateral cryptorchidism |
OMIM:618862 |
| Recombinant Chromosome 8 Syndrome |
|
Camptodactyly, Cryptorchidism, Brachycephaly, Midface retrusion, Clinodactyly of the 5th finger |
OMIM:179613 |
| Al Kaissi Syndrome |
|
Epicanthus, Brachycephaly, Synophrys, Downslanted palpebral fissures, Small hand, Clinodactyly, D... |
OMIM:617694 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
ORPHA:572 |
| Apert Syndrome |
|
Brachyturricephaly, Shallow orbits, Broad thumb, Preaxial hand polydactyly, Sagittal craniosynost... |
OMIM:101200 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Abnormality of fibula morphology, Brachycephaly, Genu varum, Finger synd... |
ORPHA:2633 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia, Hip dislocation, Failure to thrive, Hypothyroidism |
OMIM:618005 |
| Momo Syndrome |
|
Congenital pseudoarthrosis of the clavicle, Epicanthus, Abnormality of the thyroid gland, Brachyc... |
ORPHA:2563 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Reduced circulating growth hormone concentration, Abnormal circulating adrenocorticotropin concen... |
OMIM:262600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Decreased body weight, Brachycephaly, Precocious puberty |
OMIM:300958 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Hypoplasia of proximal fibula, Short distal phalanx of finger, Short metatars... |
OMIM:618150 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu... |
OMIM:229070 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Leukopenia, Anemia, Trigonocephaly, Short metacarpal, Lymphopenia, Reticulocytopen... |
ORPHA:508542 |
| Grant Syndrome |
|
Brachycephaly, Bowing of the long bones, Abnormality of the glenoid fossa, Frontal bossing, Abnor... |
ORPHA:2097 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Cryptorchidism, Brachycephaly |
OMIM:615419 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Plagiocephaly, Brachycephaly, Failure to thrive |
OMIM:618603 |
| Kury-Isidor Syndrome |
|
Hip dysplasia, Brachycephaly, Proximal placement of thumb, Downslanted palpebral fissures, Finger... |
OMIM:619762 |
| Pearson Marrow-Pancreas Syndrome |
|
Death in childhood, Refractory sideroblastic anemia, Exocrine pancreatic insufficiency, Small for... |
OMIM:557000 |
| Imerslund-Gräsbeck Syndrome |
|
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... |
ORPHA:35858 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Epicanthus, Brachycephaly, Downslanted palpebral fissures, Fifth finger distal phalanx clinodacty... |
OMIM:257850 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Neutropenia |
OMIM:615387 |
| Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Macrocytic anemia, Failure to thrive, Increased mean corpuscular volume, Pancytopenia... |
ORPHA:2169 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Craniosynostosis, Plagiocephaly, Short distal phalanx of finger, Epicanthus, Brachycephaly, Coxa ... |
ORPHA:2163 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Death in childhood, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytop... |
OMIM:619220 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Plagiocephaly, Brachycephaly, Tapered finger, Failure to thrive, Midface retrusion, Abnormal shap... |
ORPHA:261652 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Brachycephaly, Upper eyelid coloboma, Midface retrusion, Limbal dermoid, Blepharophi... |
ORPHA:1791 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Brachycephaly, Preaxial polydactyly, Overlapping toe, Postaxial polydactyly, Upslanted palpebral ... |
OMIM:618142 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hooded eyelid, Plagiocephaly, Cryptorchidism, Long eyelashes, Brachycephaly, Proximal placement o... |
OMIM:610759 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Epicanthus, Brachycephaly, Metaphyseal widening, Wide anterior fontanel, Short long bone, Narrow ... |
OMIM:263210 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Neutropenia, Infection associated neutropenia, Hypothyroidism |
ORPHA:445038 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatosplenomegaly, Hip dislocation, Brachycephaly, Failure to thrive, Frontal bossing |
OMIM:608776 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia |
OMIM:619523 |
| Fetal Trimethadione Syndrome |
|
Epicanthus, Brachycephaly, Synophrys, Midface retrusion, Ptosis |
ORPHA:1913 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Craniosynostosis, Brachycephaly, Finger syndactyly, Turricephaly, Split hand, Brachydactyly |
ORPHA:2145 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hypoplasia of the thymus, Hepatosplenomegaly, Cryptorchidism, Intermittent thrombocytopenia, Leuk... |
OMIM:612541 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Leukocytosis, Hip dislocation, Short thumb, Carpal synostosis, Fibular aplasia, Broad thumb, Abno... |
OMIM:274000 |
| Cartilage-Hair Hypoplasia |
|
Abnormal distal phalanx morphology of finger, Metaphyseal chondrodysplasia, Epicanthus, Abnormal ... |
ORPHA:175 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Autoimmune hemolytic anemia, Splenomegaly, Thrombocytopenia, B lymphocytopenia,... |
OMIM:301078 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Plagiocephaly, Camptodactyly of finger, Dolichocephaly, Brachycephaly |
ORPHA:272 |
| Trisomy 20P |
|
Plagiocephaly, Camptodactyly of finger, Cryptorchidism, Epicanthus, Brachycephaly, Downslanted pa... |
ORPHA:261318 |
| Xq28 (MECP2) duplication |
|
Death in childhood, Brachycephaly, Failure to thrive |
DECIPHER:45 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Hyperthyroidism, Decreased thyroid-stimulating hormone level, Increased circulating T4 co... |
OMIM:613239 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... |
OMIM:616216 |
| Immunodeficiency 105 |
|
Death in childhood, Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutini... |
OMIM:619924 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Craniosynostosis, Oligodactyly, Brachycephaly, Humeroradial synostosis, Arachnodactyly |
OMIM:614416 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Epicanthus, Hip dysplasia, Brachycephaly, Downslanted palpebral fissures, Broad toe, Rocker botto... |
OMIM:612582 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Delayed puberty, Plagiocephaly, Cryptorchidism, Epicanthus, Hallux valgus, Slender build, Supernu... |
ORPHA:466791 |
| Hydranencephaly |
|
Dysgenesis of the thalamus, Thalamic edema, Atrophic pituitary gland |
ORPHA:2177 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Cryptorchidism, Hip dislocation, Congenital hip dislocation, Brachycephaly, Failure to thrive, Ad... |
OMIM:219150 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Syndactyly, Failure to thrive, Thrombocytopenia, Large for gestational age, Neutropenia |
OMIM:614520 |
| Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Brachycephaly, Proximal placement of thumb, Upslanted palpebral fissure, Abnormality of the epiph... |
ORPHA:2988 |
| Chopra-Amiel-Gordon Syndrome |
|
Brachycephaly, Almond-shaped palpebral fissure, Upslanted palpebral fissure, Midface retrusion |
OMIM:619504 |
| Cdags Syndrome |
|
Coronal craniosynostosis, Brachycephaly, Sagittal craniosynostosis, Ectropion, Short clavicles, M... |
OMIM:603116 |
| Lujan-Fryns Syndrome |
|
Camptodactyly of finger, Brachycephaly, Arachnodactyly, Macroorchidism, Brachydactyly |
ORPHA:776 |
| Acrofrontofacionasal Dysostosis 2 |
|
Hand polydactyly, Brachycephaly, Wide anterior fontanel, Downslanted palpebral fissures, Syndacty... |
OMIM:239710 |
| Thyroid Hormone Resistance, Selective Pituitary |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... |
OMIM:145650 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Absent circulating B cells, Decreased proportion of class-switched memory B cells, B lymphocytope... |
OMIM:619705 |
| Hyperparathyroidism, Transient Neonatal |
|
Metaphyseal spurs, Brachycephaly, Hyperparathyroidism, Short femur, Short long bone, Ovarian cyst... |
OMIM:618188 |
| Holoprosencephaly 9 |
|
Cryptorchidism, Anterior pituitary agenesis, Decreased response to growth hormone stimulation tes... |
OMIM:610829 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Brachycephaly, Nodular goiter, Polycystic ovaries, Osteolysis involving bones of the lower limbs,... |
ORPHA:371428 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Epicanthus, Brachycephaly, Syndactyly, Thick eyebrow, Broa... |
OMIM:614800 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Brachycephaly, Failure to thrive |
ORPHA:70472 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Neutropenia |
OMIM:618253 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Iron deficiency anemia, Autoimmune thromboc... |
ORPHA:37042 |
| 20Q11.2 Microduplication Syndrome |
|
Cryptorchidism, Epicanthus, Brachycephaly, Trigonocephaly, Downslanted palpebral fissures, Palpeb... |
ORPHA:363659 |
| Distal Deletion 10Q |
|
Craniosynostosis, Epicanthus, Hip dislocation, Hip dysplasia, Brachycephaly, Downslanted palpebra... |
ORPHA:96148 |
| Sweeney-Cox Syndrome |
|
Short distal phalanx of finger, Brachycephaly, Upper eyelid coloboma, Asplenia, Flat occiput, Wid... |
OMIM:617746 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Brachycephaly, Ptosis |
OMIM:619972 |
| Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Lymphopenia, Neutropenia, Cutaneous abscess, Reduced natural killer cell count |
OMIM:619752 |
| Rothmund-Thomson Syndrome |
|
Small for gestational age, Broad ulna, Aplastic anemia, Anemia, Short thumb, Leukemia, Aplasia/Hy... |
ORPHA:2909 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Narrow palpebral fissure, Camptodactyly, Hypohidrosis, Brachycephaly, Diabetes mellitus, Entropio... |
OMIM:601701 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Brachycephaly, Eyelid coloboma, Downslanted palpebral fissures, Spina bifida occulta, Abnormal di... |
OMIM:268850 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Craniosynostosis, Epicanthus, Long eyelashes, Large for gestational age, Brachycephaly, Supernume... |
OMIM:213980 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Brachycephaly, Tapered finger, Long fingers, 2-3 toe syndactyly, Ptosis |
OMIM:218000 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Craniosynostosis, Brachycephaly, Midface retrusion |
OMIM:612247 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Delayed puberty, Ulnar deviation of the 3rd finger, Hip dislocation, Brachycephaly, Proximal plac... |
OMIM:616263 |
| Ritscher-Schinzel Syndrome 4 |
|
Plagiocephaly, Cryptorchidism, Hip dislocation, Hip dysplasia, Brachycephaly, Downslanted palpebr... |
OMIM:619435 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Fractured radius, Brachycephaly, Decreased fibular diameter, Short fem... |
OMIM:616897 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Brachycephaly |
ORPHA:320385 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Brachycephaly, Bilateral ptosis, Synophrys, Syndactyly, Thick eyebrow, Upslanted palpebral fissur... |
OMIM:614701 |
| Microphthalmia, Syndromic 3 |
|
Cryptorchidism, Anterior pituitary hypoplasia, Hypothalamic hamartoma, Frontal bossing, Hypogonad... |
OMIM:206900 |
| Saethre-Chotzen Syndrome |
|
Craniosynostosis, Plagiocephaly, Proximal radio-ulnar synostosis, Cryptorchidism, Epicanthus, Hal... |
ORPHA:794 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Brachycephaly |
OMIM:615031 |
| Rothmund-Thomson Syndrome Type 2 |
|
Patellar aplasia, Cryptorchidism, Aplasia/hypoplasia involving bones of the upper limbs, Metaphys... |
ORPHA:221016 |
| Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Small for gestational age, Reticulocytosis, Hypoplastic spleen... |
ORPHA:699 |
| Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating T4 concentration |
OMIM:603373 |
| Cerebrooculonasal Syndrome |
|
Epicanthus, Brachycephaly, Upslanted palpebral fissure, Sparse eyebrow, Postaxial hand polydactyl... |
ORPHA:66625 |
| Aspergillosis |
|
Neutropenia, Dacryocystitis, Abnormal long bone morphology, Eosinophilia |
ORPHA:1163 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Plagiocephaly, Epicanthus, Hip dysplasia, Brachycephaly, Supernumerary nipple, Upslanted palpebra... |
ORPHA:247262 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Small for gestational age, Cryptorchidism, Hallux valgus, Polydactyly, Breast hypoplasia, Failure... |
ORPHA:464306 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Camptodactyly, Epicanthus, Brachycephaly, Trigonocephaly, Downslanted palpebral fissures, Scaphoc... |
ORPHA:459061 |
| Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... |
OMIM:619802 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Goiter, Overweight, Increased circulating prolactin concentration, Decreased circulating T4 conce... |
ORPHA:99832 |
| Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Cryptorchidism, Brachycephaly, Short thumb, Supernumerary nipple, Synophrys, Downslanted palpebra... |
OMIM:616728 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Small for gestational age, Epicanthus, Megaloblastic anemia, Anemia, Failure to thrive, Thrombocy... |
OMIM:277380 |
| Alagille Syndrome |
|
Delayed puberty, Short distal phalanx of finger, Cryptorchidism, Brachycephaly, Downslanted palpe... |
ORPHA:52 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Epicanthus, Abnormal metaphysis morphology, Brachycephaly, Flat occiput, Facial hyperostosis, Lar... |
ORPHA:2780 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Cryptorchidism, Slender build, Brachycephaly, Eversion of lateral third of lower eyelids, Ptosis |
ORPHA:364028 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hip dislocation, Hip dysplasia, Brachycephaly, Postaxial polydactyly, Short palpebral fissure, Ta... |
OMIM:300968 |
| Slc35A1-Cdg |
|
Giant platelets, Thrombocytopenia, Abnormal platelet granules, Neutropenia |
ORPHA:238459 |
| Felty Syndrome |
|
Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomegaly, Weight loss, Neutropenia |
ORPHA:47612 |
| Fucosidosis |
|
Brachycephaly, Hyperhidrosis, Failure to thrive, Hypothyroidism |
ORPHA:349 |
| Crouzon Syndrome |
|
Dysgerminoma, Coronal craniosynostosis, Brachycephaly, Shallow orbits, Midface retrusion, Lambdoi... |
OMIM:123500 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hepatosplenomegaly, Delayed puberty, Neutropenia in presence of anti-neutropil antibodies, Autoim... |
OMIM:615952 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Cryptorchidism, Neutropenia |
OMIM:620012 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Flat occiput, Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Khan-Khan-Katsanis Syndrome |
|
Anemia, Postaxial polydactyly, Lymphopenia, Failure to thrive, Highly arched eyebrow, Epiblepharo... |
OMIM:618460 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatosplenomegaly, Epicanthus, Decreased CD4:CD8 ratio, Reduced natural killer cell count, Upsla... |
OMIM:608233 |
| Diamond-Blackfan Anemia 1 |
|
Parietal foramina, Epicanthus, Hypoplastic ilia, Absent thumb, Short thumb, Downslanted palpebral... |
OMIM:105650 |
| Griscelli Syndrome Type 2 |
|
Neutropenia, Pancytopenia, Hemophagocytosis, Splenomegaly |
ORPHA:79477 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 concentra... |
OMIM:301035 |
| Immunodeficiency 76 |
|
Death in childhood, Lymphopenia, B lymphocytopenia, Splenomegaly, T lymphocytopenia |
OMIM:619164 |
| Kleefstra Syndrome 1 |
|
Cryptorchidism, Brachycephaly, Synophrys, Upslanted palpebral fissure, Midface retrusion, Brachyd... |
OMIM:610253 |
| Wiskott-Aldrich Syndrome |
|
Hypoplasia of the thymus, Hemolytic anemia, Anemia, Blepharitis, Lymphopenia, Microcytic anemia, ... |
ORPHA:906 |
| Craniosynostosis 2 |
|
Craniosynostosis, Bicoronal synostosis, Brachycephaly, Trigonocephaly, Unicoronal synostosis, Tur... |
OMIM:604757 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Cryptorchidism, Brachycephaly, Synophrys, Flat occiput, Failure to thrive, Midface retrusion, Hig... |
ORPHA:96147 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Hemolytic anemia, Anemia, Thrombocytopenia, Pancytopenia, Splenomegaly, Neutropenia |
ORPHA:398124 |
| Ataxia-Telangiectasia |
|
Delayed puberty, Aplasia/Hypoplasia of the thymus, Diabetes mellitus, Polycystic ovaries, Lymphop... |
ORPHA:100 |
| Momo Syndrome |
|
Epicanthus, Brachycephaly, Eyelid coloboma, Downslanted palpebral fissures, Frontal bossing, Shor... |
OMIM:157980 |
| Macrocephaly/Autism Syndrome |
|
Biparietal narrowing, Epicanthus, Lymphopenia, Splenomegaly, Midface retrusion, Hydrocele testis,... |
OMIM:605309 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Absent extraocular muscles, Hip dislocation, Brachycephaly, Coxa valga, Telecanthus |
OMIM:109120 |
| Barth Syndrome |
|
Failure to thrive, Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia |
OMIM:302060 |
| Frontonasal Dysplasia 3 |
|
Absent eyebrow, Brachycephaly, Upper eyelid coloboma, Sparse eyelashes |
OMIM:613456 |
| Pfeiffer Syndrome Type 1 |
|
Bicoronal synostosis, Brachycephaly, Hallux varus, Finger syndactyly, Aplasia/Hypoplasia of the t... |
ORPHA:93258 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Brachycephaly, Microcytic anemia, Failure to thrive |
OMIM:612379 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Cryptorchidism, Brachycephaly, Broad eyebrow, Highly arched eyebrow, Dilated third ventricle |
OMIM:619244 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Plagiocephaly, Brachycephaly, Frontal bossing, Dilated third ventricle, Obesity |
OMIM:617296 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Neutropenia, Anemia |
OMIM:617056 |
| 9P13 Microdeletion Syndrome |
|
Epicanthus, Abnormality of cartilage of external ear, Brachycephaly, Thick eyebrow, Clinodactyly ... |
ORPHA:324313 |
| Antley-Bixler Syndrome |
|
Craniosynostosis, Camptodactyly of finger, Brachycephaly, Downslanted palpebral fissures, Frontal... |
ORPHA:83 |
| Cree Mental Retardation Syndrome |
|
Cryptorchidism, Brachycephaly, Downslanted palpebral fissures, Rocker bottom foot, Cutaneous fing... |
OMIM:606851 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Camptodactyly of toe, Camptodactyly, Hallux valgus, Congenital hip dislocation, Synophrys, Brachy... |
OMIM:300280 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Brachycephaly, Failure to thrive |
OMIM:620240 |
| Nephrotic Syndrome, Type 14 |
|
Cryptorchidism, Hypogonadism, Lymphopenia, Adrenal insufficiency, Hypothyroidism, Ptosis |
OMIM:617575 |
| Achondrogenesis, Type Ii |
|
Brachycephaly, Broad long bones, Stillbirth, Short tubular bones of the hand, Short long bone, Fr... |
OMIM:200610 |
| Cleidocranial Dysplasia |
|
Down-sloping shoulders, Brachycephaly, Hypoplastic inferior ilia, Hypoplastic scapulae, Abnormal ... |
ORPHA:1452 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Neutropenia |
ORPHA:292 |
| Vici Syndrome |
|
Epicanthus, Leukopenia, Neutropenia, Lymphopenia, Failure to thrive, Abnormality of the thymus, D... |
OMIM:242840 |
| Hallermann-Streiff Syndrome |
|
Small for gestational age, Cryptorchidism, Platybasia, Brachycephaly, Metaphyseal widening, Thin ... |
OMIM:234100 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Aplastic anemia, Failure to thrive, Thrombocytopenia, Pancytopenia, Neutropenia |
OMIM:613989 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Camptodactyly, Cryptorchidism, Epicanthus, Small for gestational age, Short thumb, Brachycephaly,... |
OMIM:619148 |
| Craniofrontonasal Syndrome |
|
Congenital pseudoarthrosis of the clavicle, Down-sloping shoulders, Coronal craniosynostosis, Cry... |
OMIM:304110 |
| Leigh Syndrome |
|
Abnormal thalamic MRI signal intensity, Anemia, Failure to thrive, Ptosis, Neutropenia |
ORPHA:506 |
| Mirage Syndrome |
|
Adrenal hypoplasia, Cryptorchidism, Decreased testicular size, Leukopenia, Hypoplastic spleen, An... |
OMIM:617053 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Biparietal narrowing, Epicanthus, Brachycephaly, Thick eyebrow, Brachydactyly, Short distal phala... |
ORPHA:1292 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
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Epicanthus, Brachycephaly, Hypoplastic nipples, Upslanted palpebral fissure, Short palpebral fiss... |
OMIM:156610 |
| Distal Deletion 12Q |
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Telecanthus, Brachycephaly, Diabetes mellitus, Overlapping toe, Downslanted palpebral fissures, W... |
ORPHA:96149 |
| Autoimmune Lymphoproliferative Syndrome |
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Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:601859 |
| Microphthalmia, Syndromic 6 |
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Plagiocephaly, Adrenal hypoplasia, Cryptorchidism, Brachycephaly, Polydactyly, Finger syndactyly,... |
OMIM:607932 |
| Immunodeficiency, Common Variable, 1 |
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Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
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Camptodactyly, Coronal craniosynostosis, Brachycephaly, Wide anterior fontanel, Rocker bottom foo... |
OMIM:207410 |
| Immunodeficiency 23 |
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Hemolytic anemia, Abscess, Lymphopenia, Eosinophilia, Failure to thrive, Neutropenia |
OMIM:615816 |
| Glycogen Storage Disease Ib |
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Delayed puberty, Pancreatitis, Xanthelasma, Pancreatic fibrosis, Splenomegaly, Neutropenia |
OMIM:232220 |
| Distal Deletion 3P |
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Cryptorchidism, Epicanthus, Brachycephaly, Abnormal vestibulo-ocular reflex, Postaxial hand polyd... |
ORPHA:1620 |
| Kohlschutter-Tonz Syndrome-Like |
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Overweight, Death in adolescence, Brachycephaly, Downslanted palpebral fissures, Thick eyebrow, M... |
OMIM:619229 |
| Giant Axonal Neuropathy |
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Genu valgum, Abnormality of the pituitary gland |
ORPHA:643 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
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Small for gestational age, Cryptorchidism, Epicanthus, Brachycephaly, Leukemia, Upslanted palpebr... |
OMIM:257300 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Plagiocephaly, Cryptorchidism, Epicanthus, Congenital hip dislocation, Bilateral ptosis, Brachyce... |
OMIM:619512 |
| Cyclic Neutropenia |
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Decreased eosinophil count, Lymphopenia, Thrombocytopenia, Perianal abscess, Cyclic neutropenia, ... |
ORPHA:2686 |
| Wieacker-Wolff Syndrome, Female-Restricted |
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Hip dislocation, Brachycephaly, Rocker bottom foot, Hip contracture, Ptosis |
OMIM:301041 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
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Cryptorchidism, Hip dysplasia, Brachycephaly, Synophrys, Downslanted palpebral fissures, Short pa... |
OMIM:616078 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Craniosynostosis, Broad distal phalanges of all fingers, Hip dislocation, Hallux valgus, Spatulat... |
OMIM:245600 |
| Macrophage Activation Syndrome |
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Hemophagocytosis, Anemia, Abnormal natural killer cell count, Thrombocytopenia, Splenomegaly, Neu... |
ORPHA:158061 |
| Igg4-Related Ophthalmic Disease |
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Orchitis, Abnormal morphology of bony orbit of skull, Abnormality of the anterior pituitary, Abno... |
ORPHA:449563 |
| Diamond-Blackfan Anemia 4 |
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Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia, Neutropenia |
OMIM:612527 |
| Treacher-Collins Syndrome |
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Hypoplasia of the thymus, Cryptorchidism, Brachycephaly, Blepharospasm, Eyelid coloboma, Downslan... |
ORPHA:861 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Camptodactyly, Epicanthus, Abnormal femoral torsion, Chronic neutropenia, Downslanted palpebral f... |
ORPHA:500095 |
| Aregenerative Anemia |
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Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thrombocytopenia, Erythroid hypop... |
ORPHA:101096 |
| Menkes Disease |
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Death in childhood, Metaphyseal spurs, Brachycephaly, Metaphyseal widening |
OMIM:309400 |
| Diamond-Blackfan Anemia |
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Small for gestational age, Epicanthus, Leukopenia, Short thumb, Pure red cell aplasia, Absent thu... |
ORPHA:124 |
| Baller-Gerold Syndrome |
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Epicanthus, Brachycephaly, Bowing of the long bones, Failure to thrive in infancy, Brachyturricep... |
ORPHA:1225 |
| Igg4-Related Thyroid Disease |
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Graves disease, Goiter, Abnormality of the pituitary gland, Nodular goiter, Hashimoto thyroiditis... |
ORPHA:64744 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
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Cryptorchidism, Epicanthus, Brachycephaly, Posterior plagiocephaly, Downslanted palpebral fissure... |
OMIM:617798 |
| Hypomandibular Faciocranial Dysostosis |
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Craniosynostosis, Brachycephaly, Trigonocephaly, Downslanted palpebral fissures, Death in infancy... |
ORPHA:1790 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
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Brachycephaly, Calcaneovalgus deformity, Tapered finger, Long fingers, Congenital hypothyroidism,... |
ORPHA:521445 |
| Larsen-Like Syndrome |
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Brachycephaly, Radial deviation of the 4th finger, Wide anterior fontanel, Frontal bossing, Bipar... |
OMIM:608545 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
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Long eyelashes, Hip dysplasia, Brachycephaly, Thick eyebrow, Midface retrusion, Short middle phal... |
OMIM:156200 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Abnormal myeloid leukocyte morphology, Delayed puberty, Anemia, Chronic neutropenia, Polycystic o... |
ORPHA:79259 |
| Necrotizing Enterocolitis |
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Small for gestational age, Thrombocytopenia, Leukocytosis, Neutropenia |
ORPHA:391673 |
| Kbg Syndrome |
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Cryptorchidism, Brachycephaly, Synophrys, Downslanted palpebral fissures, Syndactyly, Thick eyebr... |
OMIM:148050 |
| Chediak-Higashi Syndrome |
|
Giant neutrophil granules, Leukopenia, Hemophagocytosis, Anemia, Impaired neutrophil bactericidal... |
OMIM:214500 |
| Warburg Micro Syndrome 4 |
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Decreased testicular size, Cryptorchidism, Brachycephaly, Ptosis |
OMIM:615663 |
| Contractural Arachnodactyly, Congenital |
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Camptodactyly, Ulnar deviation of finger, Brachycephaly, Scaphocephaly, Dolichocephaly, Adducted ... |
OMIM:121050 |
| Fanconi Anemia, Complementation Group V |
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Thrombocytopenia, Neutropenia, Anemia |
OMIM:617243 |
| Duplication Of The Pituitary Gland |
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Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Brachyturricephaly, Midface... |
ORPHA:314621 |
| Osteopetrosis With Renal Tubular Acidosis |
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Secondary hyperparathyroidism, Plagiocephaly, Elliptocytosis, Leukopenia, Brachycephaly, Anemia, ... |
ORPHA:2785 |
| Marshall Syndrome |
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Hypohidrosis, Brachycephaly, Sparse eyebrow, Frontal bossing, Thickened calvaria, Sparse eyelashe... |
ORPHA:560 |
| Trichothiodystrophy |
|
Craniosynostosis, Epicanthus, Cryptorchidism, Clubbing, Increased mean corpuscular hemoglobin con... |
ORPHA:33364 |
| Transcobalamin Ii Deficiency |
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Reticulocytopenia, Macrocytic anemia, Failure to thrive, Erythroid hypoplasia, Pancytopenia, Neut... |
OMIM:275350 |
| Onychotrichodysplasia And Neutropenia |
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Curly eyelashes, Chronic neutropenia, Short eyelashes, Lymphocytosis, Chronic irritative conjunct... |
OMIM:258360 |
| Warburg Micro Syndrome 3 |
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Blepharophimosis, Decreased testicular size, Brachycephaly, Clinodactyly of the 5th finger |
OMIM:614222 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
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Broad metatarsal, Camptodactyly of toe, Metatarsal osteolysis, Finger swelling, Metacarpal osteol... |
OMIM:259600 |
| Neurofaciodigitorenal Syndrome |
|
Abnormal distal phalanx morphology of finger, Plagiocephaly, Cryptorchidism, Epicanthus, Brachyce... |
ORPHA:2673 |
| Pfeiffer Syndrome |
|
Cloverleaf skull, Coronal craniosynostosis, Brachyturricephaly, Downslanted palpebral fissures, F... |
OMIM:101600 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
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Camptodactyly, Cryptorchidism, Long eyelashes, Brachycephaly, Breast hypoplasia, Downslanted palp... |
OMIM:601353 |
| Down Syndrome |
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Epicanthus, Myeloproliferative disorder, Acute megakaryocytic leukemia, Brachycephaly, Upslanted ... |
OMIM:190685 |
| Hyperthyroidism, Nonautoimmune |
|
Goiter, Small for gestational age, Thyroid hyperplasia, Hyperthyroidism, Increased circulating fr... |
OMIM:609152 |
| Stevenson-Carey Syndrome |
|
Downslanted palpebral fissures, Brachycephaly, Camptodactyly, Hip dysplasia |
OMIM:611961 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Brachycephaly, Bilateral cryptorchidism, Clinodactyly of the 5th finger, Neonatal death |
OMIM:619859 |
| Cernunnos-Xlf Deficiency |
|
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia |
ORPHA:169079 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Thyroid hypoplasia, Hypot... |
OMIM:275200 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Telecanthus, Eyelid coloboma, Brachyturricephaly, Broad proximal phalanges of the hand, Frontal b... |
OMIM:607597 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Craniosynostosis, Brachycephaly, Hypoparathyroidism, Obesity, Upslanted palpebral fissure, Slende... |
ORPHA:369837 |
| Cornelia De Lange Syndrome 1 |
|
Cryptorchidism, Curly eyelashes, Long eyelashes, Brachycephaly, Hypoplastic radial head, Synophry... |
OMIM:122470 |
| Carpenter Syndrome 2 |
|
Epicanthus, Trigonocephaly, Hypoplastic nipples, Upslanted palpebral fissure, Highly arched eyebr... |
OMIM:614976 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Long eyelashes, Brachycephaly, Proximal placement of thumb, Downslanted palpebral fissures, Coxa ... |
OMIM:212066 |
| Methylmalonic Aciduria, Cblb Type |
|
Anemia, Failure to thrive, Thrombocytopenia, Pancytopenia, Neutropenia |
OMIM:251110 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Brachycephaly, Proximal placement of thumb, Abnormal hip bone morphology... |
ORPHA:1488 |
