Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
GS homeobox 1
Synonyms:
Gsh-1,  Gsh1

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Gsx1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Gsx1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Genu valgum, Small pituitary gland, Primary amenorrhea, Decreased testicular size OMIM:614880
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimuation test OMIM:615925
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Central hypothyroidism, Xerostomia, Type II diabetes mellitus, Decreased testicul... ORPHA:398079
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Gonadotropin deficiency, Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary... ORPHA:231720
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Small pituitary gland, Primary amenorrhea OMIM:612702
Panhypophysitis
Pituitary hypothyroidism, Abnormality of the posterior pituitary, Abnormal size of pituitary glan... ORPHA:95513
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... ORPHA:95512
Congenital Disorder Of Glycosylation, Type Iiq
Hypoplasia of the corpus callosum, Small pituitary gland, Secondary microcephaly, Diffuse cerebra... OMIM:617395
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Delayed puberty, Triphalangeal thumb, Aplasia of the ovary, Hypergonadotropic hyp... ORPHA:2232
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... OMIM:618157
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Horizontal eyebrow, Hypoplasia of the corpus callosum, Epicanthus, Synophrys, Cerebral cortical a... ORPHA:352530
Magel2-Related Prader-Willi-Like Syndrome
Hip dysplasia, Cryptorchidism, Infertility, Almond-shaped palpebral fissure, Premature pubarche, ... ORPHA:398069
Cog2-Cdg
Hypoplasia of the corpus callosum, Small pituitary gland, Secondary microcephaly, Diffuse cerebra... ORPHA:435934
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita... ORPHA:300385
Microcephaly-Microcornea Syndrome, Seemanova Type
Upslanted palpebral fissure, Epicanthus, Brachycephaly, Microcephaly, Hypogonadism ORPHA:2528
Prader-Willi Syndrome
Cryptorchidism, Central hypothyroidism, Decreased circulating gonadotropin concentration, Xerosto... ORPHA:739
Sheehan Syndrome
Pituitary hypothyroidism, Abnormal size of pituitary gland, Obesity, Adrenocorticotropin deficien... ORPHA:91355
Septooptic Dysplasia
Absent septum pellucidum, Polydactyly, Short finger, Anterior pituitary hypoplasia, Diabetes insi... OMIM:182230
Specific Granule Deficiency 2
Absent neutrophil specific granules, Neutropenia, Sandal gap, Thrombocytopenia, Anemia, Failure t... OMIM:617475
Potocki-Shaffer Syndrome
Hypothyroidism, Parietal foramina, Epicanthus, Delayed puberty, Brachycephaly, Anemia ORPHA:52022
Hyperprolactinemia
Infertility, Menorrhagia, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
3-Methylglutaconic Aciduria, Type Vii
Microcephaly, Cerebral atrophy, Neutropenia OMIM:616271
Adenylosuccinate Lyase Deficiency
Hypointensity of cerebral white matter on MRI, Flat occiput, Brachycephaly, Microcephaly, Promine... ORPHA:46
Cohen Syndrome
Genu valgum, Short metatarsal, Neutropenia, Short metacarpal, Thick eyebrow, Delayed puberty, Sma... OMIM:216550
X-Linked Acrogigantism
Increased serum insulin-like growth factor 1, Abnormality of the pituitary gland, Elevated circul... ORPHA:300373
Holoprosencephaly, Recurrent Infections, And Monocytosis
Cryptorchidism, Monocytosis, Short finger, Epicanthus, Brachycephaly, Failure to thrive, Short to... OMIM:610680
Acromelic Frontonasal Dysplasia
Cryptorchidism, Agenesis of corpus callosum, Large fontanelles, Preaxial foot polydactyly, Hypopi... ORPHA:1827
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:98754
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Oligospermia, Amenorrhea, Enlarged pituitary gland, Oligomenorrhea, Hypogonad... ORPHA:91351
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Pituitary hypothyroidism, Hypopituit... ORPHA:251623
Microcephalic Primordial Dwarfism, Toriello Type
Short proximal phalanx of thumb, Short middle phalanx of finger, Short proximal phalanx of hallux... OMIM:251190
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:98793
Culler-Jones Syndrome
Cryptorchidism, Midface retrusion, Postaxial polydactyly, Hypopituitarism, Ectopic posterior pitu... OMIM:615849
Mental Retardation, Autosomal Dominant 26
Highly arched eyebrow, Thick eyebrow, Short palpebral fissure, Small for gestational age, Ptosis,... OMIM:615834
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating growth hormone concentration... ORPHA:91347
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:177904
Pierpont Syndrome
Cryptorchidism, Short toe, Blepharophimosis, Unilateral narrow palpebral fissure, Midface retrusi... OMIM:602342
Prader-Willi-Like Syndrome
Cryptorchidism, Decreased circulating T4 level, Narrow palpebral fissure, Central hypothyroidism,... ORPHA:398073
Pituitary Hormone Deficiency, Combined, 3
Anterior pituitary hypoplasia, Decreased response to growth hormone stimuation test, Anterior hyp... OMIM:221750
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:177901
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia, Failure to thrive OMIM:616022
Aminopterin Syndrome Sine Aminopterin
Highly arched eyebrow, Cryptorchidism, Frontal bossing, Narrow palpebral fissure, Megalencephaly,... OMIM:600325
Fg Syndrome Type 1
Slender build, Cryptorchidism, Craniosynostosis, Abnormal thumb morphology, Aplasia/Hypoplasia of... ORPHA:93932
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Neutropenia, Thrombocytopenia, Anemia, Microcephaly, Leukemia OMIM:614082
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Ane Syndrome
Abnormal response to ACTH stimulation test, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:157954
Neutropenia, Chronic Familial
Clubbing of fingers, Clubbing, Neutropenia OMIM:162700
Hemochromatosis, Type 3
Amenorrhea, Lymphopenia, Impotence, Neutropenia, Anemia, Hypogonadotropic hypogonadism OMIM:604250
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Broad metatarsal, Trigonocephaly, Brachycephaly, Broad phalanx, Prominent metopic ridge OMIM:275595
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Anterior pituitary hypoplas... ORPHA:226307
Non-Distal Trisomy 10Q
Cryptorchidism, Frontal bossing, Blepharophimosis, Brachycephaly, Downslanted palpebral fissures,... ORPHA:1695
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal... ORPHA:293978
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Acromelic Frontonasal Dysostosis
Cryptorchidism, Agenesis of corpus callosum, Polydactyly, Hypoplasia of the corpus callosum, Prea... OMIM:603671
Pontocerebellar Hypoplasia, Type 15
Death in infancy, Chronic neutropenia, Thrombocytopenia, Anemia, Simplified gyral pattern, Agenes... OMIM:619302
Meningioma
Hypogonadotropic hypogonadism, Decreased circulating ACTH level, Decreased circulating follicle s... ORPHA:2495
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Failure to thrive OMIM:613501
Potocki-Shaffer Syndrome
Wormian bones, Parietal foramina, Epicanthus, Sparse lateral eyebrow, Cutaneous syndactyly betwee... OMIM:601224
Cornelia De Lange Syndrome 5
Cryptorchidism, Highly arched eyebrow, Toe syndactyly, Long eyelashes, Synophrys, Truncal obesity... OMIM:300882
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Myopathy, Congenital, Bailey-Bloch
Cryptorchidism, Blepharophimosis, Midface retrusion, Ptosis, Short palpebral fissure, Brachycepha... OMIM:255995
Chromosome 3Pter-P25 Deletion Syndrome
Cryptorchidism, Highly arched eyebrow, Blepharophimosis, Upslanted palpebral fissure, Epicanthus,... OMIM:613792
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Failure to thrive, Splenomegaly, Leu... OMIM:615285
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Chronic neutropenia, Thrombocytopenia, Simplified gyral pattern, Agenesis of co... OMIM:619301
Pierpont Syndrome
Cryptorchidism, Short finger, Narrow palpebral fissure, Primary microcephaly, Abnormal cortical g... ORPHA:487825
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of epiphysis morphology, Neutropenia, Downslanted palpebral fissures, Microcephaly, B... ORPHA:2643
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Long eyelashes, Synophrys, Thick eyebrow, Ptosis, Clinodactyly, Brachyceph... OMIM:300590
3-Methylglutaconic Aciduria, Type Viii
Hypoplasia of the corpus callosum, Cerebral atrophy, Death in infancy, Neutropenia, Secondary mic... OMIM:617248
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Large iliac wing, Abnormal thumb morphology, Abnormality of finger, Large fontanelles, Flat occip... ORPHA:2511
Lig4 Syndrome
Cryptorchidism, Biparietal narrowing, Leukocytosis, Hypothyroidism, Upslanted palpebral fissure, ... ORPHA:99812
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Abnormality of the septum pellucidum, Craniosynostosis, Toe syndactyly, Radioulna... ORPHA:171839
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal cerebral white matter morphology, Neutropenia, Pancytopen... OMIM:159550
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Delayed closure of the anterior fontanelle, Agenesis of corpus callosum, Lambdoidal craniosynosto... OMIM:618736
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hypothyroidism, Ptosis, Neutropenia, Microcytic anemia OMIM:251900
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Epiphyseal stippling, Short metatarsal, Short phalanx of finger, Elevated circula... OMIM:101800
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Brachycephaly, Downslanted palpebra... OMIM:618859
Craniopharyngioma
Abnormal hypothalamus morphology, Enlarged pituitary gland, Pituitary hypothyroidism, Hypopituita... ORPHA:54595
X-Linked Intellectual Disability, Sutherland-Haan Type
Upslanted palpebral fissure, Decreased body weight, Small for gestational age, Brachycephaly, Dec... ORPHA:93950
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia, Death in childhood OMIM:200900
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Craniosynostosis 6
Craniosynostosis, Plagiocephaly, Abnormal corpus callosum morphology, Delayed cranial suture clos... OMIM:616602
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Neutropenia, Synophrys, Anemia, Downslanted palpebral fissures, Clinodactyly of t... OMIM:618067
Immunodeficiency 8
Lymphopenia OMIM:615401
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Agenesis of corpus callosum, Absent septum pellucidum, Hypothyroidism, ... OMIM:609053
Immunodeficiency 40
Lymphopenia OMIM:616433
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Breast hypoplasia, Anterior hypopituitarism, Absence of secondary ... ORPHA:2235
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Cebalid Syndrome
Highly arched eyebrow, Midface retrusion, Platystencephaly, Plagiocephaly, Thick eyebrow, Polymic... OMIM:618774
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Neutropenia, Eosinophilia OMIM:257100
Deeah Syndrome
Overlapping fingers, Cryptorchidism, Panhypopituitarism, Hypohidrosis, Exocrine pancreatic insuff... OMIM:619004
Non-Acquired Panhypopituitarism
Infertility, Decreased circulating ACTH level, Ectopic anterior pituitary gland, Amenorrhea, Abse... ORPHA:90695
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Craniosynostosis, Wide anterior fontanel, Midface retrusion, Skull asymmetry, Brac... OMIM:601853
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Gómez-López-Hernández Syndrome
Midface retrusion, Brachycephaly, Telecanthus, Turricephaly ORPHA:1532
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Hip dysplasia, Hypoplasia of the corpus callosum, Upslanted palpebral fissure, Plagiocephaly, Sma... OMIM:618672
Cerebellar Ataxia-Hypogonadism Syndrome
Hypogonadism, Clinodactyly of the 5th finger, Brachycephaly, Hypogonadotropic hypogonadism, Decre... ORPHA:1173
Pontocerebellar Hypoplasia, Type 3
Hypoplasia of the corpus callosum, Cerebral atrophy, Decreased body weight, Long palpebral fissur... OMIM:608027
Immunodeficiency 19
Lymphopenia, Failure to thrive OMIM:615617
Muenke Syndrome
Broad thumb, Short middle phalanx of toe, Midface retrusion, Short middle phalanx of finger, Plag... OMIM:602849
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Neutropenia, Thrombocytopenia, Basal ganglia calcificatio... OMIM:229050
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Flat occiput, Plagiocephaly, Brachycephaly, Microcephaly, Diffuse cerebral atrophy ORPHA:2898
Laurence-Moon Syndrome
Cryptorchidism, Hand polydactyly, Finger syndactyly, Epicanthus, Brachycephaly, Type II diabetes ... ORPHA:2377
Craniofrontonasal Dysplasia
Camptodactyly of finger, Craniosynostosis, Hand polydactyly, Frontal bossing, Finger syndactyly, ... ORPHA:1520
Isolated Brachycephaly
Midface retrusion, Metacarpal synostosis, Brachydactyly, Brachycephaly ORPHA:35099
Combined Pituitary Hormone Deficiencies, Genetic Forms
Infertility, Decreased circulating ACTH level, Ectopic anterior pituitary gland, Amenorrhea, Abse... ORPHA:95494
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Immunodeficiency 55
Microcephaly, Neutropenia OMIM:617827
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Frontal bossing, Hypoplasia of the corpus callosum, Cerebral atrophy, Epicanthus, Failure to thri... OMIM:616801
Pelger-Huet Anomaly
Short 4th metacarpal, Short 3rd metacarpal, Upper limb undergrowth, Frontal bossing, Abnormality ... OMIM:169400
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Hypohidrosis, Maternal diabetes, Agenesis of corpus callosum, Absent septum pellu... ORPHA:3157
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Midface retrusion, Unilambdoid synostosis, Hypoplasia of the corpus callosum, Lon... OMIM:618577
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cryptorchidism, Midface retrusion, Cerebral cortical atrophy, Brachycephaly, Ulnar deviation of f... ORPHA:1387
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Chromosome 5P13 Duplication Syndrome
Craniosynostosis, Blepharophimosis, Frontal bossing, Upslanted palpebral fissure, Epicanthus, Sho... OMIM:613174
Acrodysostosis
Cryptorchidism, Hypoplasia of the radius, Epiphyseal stippling, Short metatarsal, Short toe, Irre... ORPHA:950
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Hypoplasia of the corpus callosum, Ectopic posterio... ORPHA:67045
14Q22Q23 Microdeletion Syndrome
Cryptorchidism, Short 4th metacarpal, Adrenal hypoplasia, Toe syndactyly, Abnormality of the hypo... ORPHA:264200
Bardet-Biedl Syndrome 8
Polydactyly, Hypogonadism, Brachycephaly, Obesity OMIM:615985
Pituitary Deficiency Due To Rathke Cleft Cysts
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Anterior hypopituitarism... ORPHA:91350
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... OMIM:615897
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Gorlin Syndrome
Cryptorchidism, Frontal bossing, Epicanthus, Brachycephaly, Cerebral calcification, Hypogonadotro... ORPHA:377
Chromosome 3Q13.31 Deletion Syndrome
Cryptorchidism, Epicanthus, Plagiocephaly, Ptosis, Brachycephaly, Decreased testicular size, Doli... OMIM:615433
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Conjunctivitis, Anemia, Splenomegaly OMIM:603552
Chromosome 2P16.1-P15 Deletion Syndrome
Cryptorchidism, Pachygyria, Blepharophimosis, Hypoplasia of the corpus callosum, Camptodactyly, C... OMIM:612513
Camptodactyly Syndrome, Guadalajara Type 1
Highly arched eyebrow, Camptodactyly of finger, Toe syndactyly, Blepharophimosis, Midface retrusi... ORPHA:1327
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Cerebral atrophy, E... OMIM:615471
Schimke Immunoosseous Dysplasia
Lymphopenia, Elevated circulating thyroid-stimulating hormone concentration, Neutropenia, Thrombo... OMIM:242900
Carpenter Syndrome 1
Cryptorchidism, Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Metatarsus adductu... OMIM:201000
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, 2-3 toe syndactyly, Epicanthus, Synophrys, Brachycephaly, Downslanted palpebral f... ORPHA:3306
Shwachman-Diamond Syndrome
Metaphyseal irregularity, Neutropenia, Pancytopenia, Pancreatic hypoplasia, Leukopenia, Anemia, A... ORPHA:811
Pde4D Haploinsufficiency Syndrome
Cryptorchidism, Short metatarsal, Short phalanx of finger, Narrow palpebral fissure, Elevated cir... ORPHA:439822
Nabais Sa-De Vries Syndrome, Type 1
Highly arched eyebrow, Narrow palpebral fissure, Epicanthus, Long eyelashes, Synophrys, Primary m... OMIM:618828
Acrofrontofacionasal Dysostosis
Eyelid coloboma, Camptodactyly of finger, Broad thumb, Abnormality of epiphysis morphology, Midfa... ORPHA:1784
Intellectual Developmental Disorder, X-Linked 1
Secondary microcephaly, Brachycephaly OMIM:309530
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Conjunctivitis, Anemia, Failure to thrive OMIM:616740
Cartilage-Hair Hypoplasia
Sparse eyelashes, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Congen... OMIM:250250
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Thin calvarium, Brachycephaly, Microcephaly, Brachydactyly OMIM:122900
Menkes Disease
Wormian bones, Death in childhood, Brachycephaly, Metaphyseal widening, Microcephaly, Metaphyseal... OMIM:309400
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly, Thickened calvaria OMIM:162830
Microphthalmia, Syndromic 3
Cryptorchidism, Hypothalamic hamartoma, Frontal bossing, Hypoplasia of the corpus callosum, Anter... OMIM:206900
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Mental Retardation, Autosomal Dominant 29
Downslanted palpebral fissures, Ptosis, Brachycephaly, Synophrys OMIM:616078
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Ritscher-Schinzel Syndrome 1
Adrenal hypoplasia, Syndactyly, Prominent occiput, Brachycephaly, Downslanted palpebral fissures,... OMIM:220210
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Slender build, Brachycephaly OMIM:300699
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Hypothyroidism, Lymphopenia, Neutropenia, Anemia, Increased mean cor... OMIM:618849
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Frontal bossing, Midface retrusion, Camptodactyly, Cerebral atrophy, Brachycephaly, Downslanted p... OMIM:615539
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Cryptorchidism, Highly arched eyebrow, Broad thumb, Aplasia/Hypoplasia of the corpus callosum, Ov... ORPHA:505237
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Hypoplasia of the corpus callosum, Plagiocephaly, Brachycephaly, Failure to thrive, Microcephaly,... OMIM:618603
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Diabetes insipidus, Di... OMIM:598500
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Erythroid hypoplasia, Monocytosis, Broad thumb, Lymphopenia, Neutropenia, Hypopla... OMIM:612541
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, Brachycephaly ORPHA:320385
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Metaphyseal sclerosis, Short iliac bones, Autoimmune thrombocytopenia, Frontal... OMIM:607944
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Cryptorchidism, Agenesis of corpus callosum, Frontal bossing, Calvarial skull defect, Upslanted p... ORPHA:228390
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Splenomegaly, Anemia, Failure to thrive, Pancreatitis ORPHA:79312
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Mucopolysaccharidosis-Plus Syndrome
Metaphyseal widening, Flared iliac wing, Epicanthus, Long eyelashes, Synophrys, Neutropenia, Thro... OMIM:617303
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH... OMIM:300888
Semilobar Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Central hypothyroidism, Abnormal hypotha... ORPHA:220386
Alobar Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Central hypothyroidism, Abnormal hypotha... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Central hypothyroidism, Abnormal hypotha... ORPHA:93926
Lobar Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Central hypothyroidism, Abnormal hypotha... ORPHA:93924
Down Syndrome
Acute megakaryocytic leukemia, Hypothyroidism, Upslanted palpebral fissure, Epicanthus, Hypoplast... OMIM:190685
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Hypothyroidism, Neutropenia, Throm... OMIM:304790
Prolactinoma
Male hypogonadism, Elevated circulating growth hormone concentration, Pituitary hypothyroidism, D... ORPHA:2965
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, Brachycephaly OMIM:615031
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Cryptorchidism, Highly arched eyebrow, Broad thumb, Overlapping toe, Hypoplasia of the corpus cal... OMIM:617452
2Q32Q33 Microdeletion Syndrome
Broad thumb, Broad hallux phalanx, Brachycephaly, Toe clinodactyly, Downslanted palpebral fissure... ORPHA:251019
Fanconi Anemia, Complementation Group A
Cryptorchidism, Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thr... OMIM:227650
Prader-Willi Syndrome Due To Translocation
Almond-shaped palpebral fissure, Overlapping toe, Clinodactyly of the 4th finger, Upslanted palpe... ORPHA:177907
Craniosynostosis And Dental Anomalies
Craniosynostosis, Lambdoidal craniosynostosis, Short phalanx of finger, Sagittal craniosynostosis... OMIM:614188
Lichtenstein Syndrome
Epicanthus, Neutropenia, Synophrys, Metacarpophalangeal joint contracture, Ulnar deviation of finger OMIM:246550
Congenital Disorder Of Glycosylation, Type Iif
Flat occiput, Neutropenia, Macrothrombocytopenia, Thrombocytopenia, Clinodactyly, Microcephaly OMIM:603585
Down Syndrome
Acute megakaryocytic leukemia, Hypothyroidism, Upslanted palpebral fissure, Epicanthus, Sandal ga... ORPHA:870
48,Xxxy Syndrome
Cryptorchidism, Infertility, Azoospermia, Radioulnar synostosis, Blepharophimosis, Abnormality of... ORPHA:96263
Hydranencephaly
Dysgenesis of the thalamus, Abnormal corpus striatum morphology, Hypoplastic hippocampus, Cerebra... ORPHA:2177
Agammaglobulinemia 1, Autosomal Recessive
Conjunctivitis, B lymphocytopenia, Neutropenia, Failure to thrive OMIM:601495
Schimke Immuno-Osseous Dysplasia
Hypoplastic pelvis, Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion o... ORPHA:1830
Al Kaissi Syndrome
Hypoplasia of the corpus callosum, Epicanthus, Decreased body weight, Synophrys, Clinodactyly, Sm... OMIM:617694
Oculocerebrofacial Syndrome, Kaufman Type
Blepharophimosis, Upslanted palpebral fissure, Epicanthus, Absent eyebrow, Flat occiput, Short pa... ORPHA:2707
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Abnormal eyelid morphology, Radioulnar synostosis, Abnormal digit morph... OMIM:614900
German Syndrome
Cryptorchidism, Camptodactyly of finger, Abnormal eyebrow morphology, Midface retrusion, Synophry... ORPHA:2077
8Q12 Microduplication Syndrome
Highly arched eyebrow, Epicanthus, Long palpebral fissure, Brachycephaly, Short foot, Telecanthus ORPHA:228399
Saul-Wilson Syndrome
Short metatarsal, Wide anterior fontanel, Neutropenia, Short distal phalanx of finger, Flared met... OMIM:618150
9P13 Microdeletion Syndrome
Abnormality of cartilage of external ear, Highly arched eyebrow, Epicanthus, Thick eyebrow, Brach... ORPHA:324313
Shwachman-Diamond Syndrome 1
Metaphyseal widening, Proximal femoral metaphyseal irregularity, Metaphyseal sclerosis, Metaphyse... OMIM:260400
49,Xxxxy Syndrome
Cryptorchidism, Infertility, Azoospermia, Radioulnar synostosis, Blepharophimosis, Abnormality of... ORPHA:96264
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Overlapping fingers, Hydrocele testis, Radioulnar synostosis, Congenital thrombocytopenia, Neutro... OMIM:616738
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Temporal cortical atrophy, Hypoplasia of the corpus callosum, Upslanted palpebral fissure, Unilat... OMIM:618862
Spinocerebellar Ataxia, Autosomal Recessive 23
Microcephaly, Neutropenia OMIM:616949
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Infertility, Decreased circulating ACTH level, Amenorrhea, Pituitary hypothyr... ORPHA:95619
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Otofacioosseous-Gonadal Syndrome
Short hallux, Cryptorchidism, Wormian bones, Genu valgum, Frontal bossing, Epicanthus, Brachyceph... OMIM:601976
Kallmann Syndrome
Cryptorchidism, Breast hypoplasia, Erectile dysfunction, Primary amenorrhea, Dyspareunia, Delayed... ORPHA:478
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Thickened calvaria, Brachycephaly ORPHA:178377
Hamamy Syndrome
Hip dysplasia, Cryptorchidism, Hypochromic anemia, Craniosynostosis, Microcytic anemia, Down-slop... OMIM:611174
Propionic Acidemia
Cerebral atrophy, Neutropenia, Pancytopenia, Thrombocytopenia, Anemia, Failure to thrive, Pancrea... OMIM:606054
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Chromosome 2Q37 Deletion Syndrome
Highly arched eyebrow, Short metatarsal, Short phalanx of finger, Blepharophimosis, Midface retru... OMIM:600430
19P13.12 Microdeletion Syndrome
Cryptorchidism, Craniosynostosis, Finger syndactyly, Hypoplasia of the corpus callosum, Hypothyro... ORPHA:254346
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, 2-3 finger syndactyly, Broad thumb, Cerebral white matter atr... ORPHA:435638
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Metaphyseal irregularity, Hyperechogenic pancreas, Neutropenia... OMIM:617941
Barth Syndrome
Granulocytopenia, Neutropenia, Failure to thrive OMIM:302060
Holoprosencephaly-Craniosynostosis Syndrome
Craniosynostosis, Upslanted palpebral fissure, Epicanthus, Plagiocephaly, Short distal phalanx of... ORPHA:2163
Mental Retardation, Autosomal Dominant 23
Broad distal phalanx of finger, Upslanted palpebral fissure, Postaxial polydactyly, Synophrys, Sa... OMIM:615761
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Clubbing of fingers, Autoimmune thrombocyt... OMIM:614700
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Highly arched eyebrow, Upslanted palpebral fissure, Preaxial polydactyly, Po... OMIM:618142
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Poikiloderma With Neutropenia
Midface retrusion, Neutropenia, Conjunctivitis, Splenomegaly, Blepharitis OMIM:604173
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Even-Plus Syndrome
Highly arched eyebrow, Midface retrusion, Synophrys, Dysplastic corpus callosum, Epiphyseal dyspl... OMIM:616854
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Midface retrusion, Lymphopenia, Neutropenia, Short humerus, Reticulocytopenia, Thrombocytopenia, ... ORPHA:508542
Monosomy 18P
Hypothyroidism, Epicanthus, Ptosis, Brachycephaly, Microcephaly, Brachydactyly ORPHA:1598
Frontofacionasal Dysplasia
Blepharophimosis, Midface retrusion, Hypoplasia of the corpus callosum, Upper eyelid coloboma, Pt... ORPHA:1791
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Abnormal shape of the occiput, Frontal bossing, Midface retrusion, Hypoplasia of ... OMIM:218350
Fanconi Anemia, Complementation Group E
Cryptorchidism, Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thr... OMIM:600901
Cohen Syndrome
Cryptorchidism, Genu valgum, Abnormal eyelid morphology, Finger syndactyly, Abnormal eyelash morp... ORPHA:193
Methylcobalamin Deficiency Type Cble
Abnormal cerebral white matter morphology, Neutropenia, Pancytopenia, Clinodactyly, Syndactyly, F... ORPHA:2169
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Anterior hypopituitarism, Pit... ORPHA:91348
Rothmund-Thomson Syndrome Type 1
Cryptorchidism, Metaphyseal sclerosis, Short phalanx of finger, Hypothyroidism, Neutropenia, Abno... ORPHA:221008
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Exocrine pancreatic insufficiency, Hypothyroidism, Central... ORPHA:1667
Fanconi Anemia, Complementation Group C
Cryptorchidism, Hypergonadotropic hypogonadism, Epicanthus, Neutropenia, Reticulocytopenia, Pancy... OMIM:227645
Xq28 (MECP2) duplication
Hypoplasia of the corpus callosum, Death in childhood, Brachycephaly, Failure to thrive, Microcep... DECIPHER:45
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia OMIM:613502
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Horizontal eyebrow, Hypoplasia of the corpus callosum, Long eyelashes, Brachyceph... OMIM:609757
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Corpus callosum atrophy, Neutropenia, Leukoencephalopathy, Failure to thrive, Secondary microcephaly OMIM:608809
Desanto-Shinawi Syndrome
Midface retrusion, Hypoplasia of the corpus callosum, Synophrys, Thick eyebrow, Brachycephaly OMIM:616708
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Type II lissencephaly, Plagio... ORPHA:272
Peroxisomal Acyl-Coa Oxidase Deficiency
Brachycephaly, Frontal bossing OMIM:264470
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Craniosynostosis, Goiter, Abnormal eyelid morphology, Increased ci... ORPHA:525731
Osteopathia Striata-Cranial Sclerosis Syndrome
Large iliac wing, Large fontanelles, Frontal bossing, Flat occiput, Epicanthus, Thickened calvari... ORPHA:2780
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Frontal bossing, Midface retrusion, Thyroiditis, Hypothyroidism, Camptodactyly, Failure to thrive... ORPHA:228426
Acrofrontofacionasal Dysostosis 2
Broad thumb, Wide anterior fontanel, Hand polydactyly, Ptosis, Syndactyly, Brachycephaly, Downsla... OMIM:239710
Congenital Disorder Of Glycosylation, Type Il
Frontal bossing, Brachycephaly, Failure to thrive, Microcephaly, Hip dislocation, Hepatosplenomegaly OMIM:608776
Smith-Magenis Syndrome
Hand polydactyly, Aplasia/Hypoplasia of the corpus callosum, Frontal bossing, Toe syndactyly, Mid... ORPHA:819
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in infancy, Anemia, Phocomeli... OMIM:274000
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Cerebral atrophy, Neutropenia, Thrombocytopenia, Anemia OMIM:614857
Fetal Trimethadione Syndrome
Midface retrusion, Epicanthus, Synophrys, Ptosis, Brachycephaly, Microcephaly ORPHA:1913
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Wide anterior fontanel, Frontal bossing, Anterior plagioce... ORPHA:163649
2Q23.1 Microdeletion Syndrome
Hip dysplasia, Cryptorchidism, Highly arched eyebrow, Synophrys, Sandal gap, Brachycephaly, Micro... ORPHA:228402
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology, Cryptorchidism, Highly arched eyebrow, Broad distal phalanx o... ORPHA:404440
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Abnormality of epiphysis morphology, Large post... ORPHA:95717
16P13.2 Microdeletion Syndrome
Hip dysplasia, Cryptorchidism, Overweight, Cerebral white matter atrophy, Hypoplasia of the corpu... ORPHA:500055
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Pancreatitis, Neutropenia, Anemia ORPHA:289916
Isolated Exencephaly
Maternal diabetes, Abnormality of the calvaria, Posterior pituitary agenesis, Anterior pituitary ... ORPHA:563612
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Thrombocytopenia, Polymicrogyria, Syndactyly, Anemia, Failure to thrive, Large for g... OMIM:614520
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Delayed proximal femoral epiphyseal ossification, Ab... ORPHA:95716
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, Ptosis, Brachycephaly, Tapered finger, Agenesis of corpus callosum, Long fingers OMIM:218000
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Neutropenia, Pancytopenia, Partial duplication of thumb phalanx, Absent radius, S... OMIM:227646
Craniosynostosis 2
Unicoronal synostosis, Craniosynostosis, Frontal bossing, Trigonocephaly, Brachycephaly, Brachytu... OMIM:604757
Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome
Down-sloping shoulders, Upslanted palpebral fissure, Brachycephaly ORPHA:91133
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Craniosynostosis, Frontal bossing, Bilateral cryptorchidism, Brachycephaly, Downslanted palpebral... ORPHA:314575
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Death in infancy, Dea... OMIM:617514
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Craniosynostosis, Tarsal synostosis, ... ORPHA:95699
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Midface retrusion, Camptodactyly, Cerebral atrophy, Brachycephaly, Secondary micr... OMIM:179613
Distal Monosomy 10Q
Craniosynostosis, Short metatarsal, Sandal gap, Spina bifida occulta, Downslanted palpebral fissu... ORPHA:96148
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia, Proximal placement of thumb, Decreased response to growth hormone ... OMIM:618624
Martsolf Syndrome 1
Cryptorchidism, Short phalanx of finger, Epicanthus, Slender ulna, Short metacarpal, Metatarsus a... OMIM:212720
2P15P16.1 Microdeletion Syndrome
Camptodactyly of finger, Blepharophimosis, Prominent metopic ridge, Epicanthus, Long eyelashes, S... ORPHA:261349
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Kleefstra Syndrome Due To A Point Mutation
Midface retrusion, Abnormal shape of the palpebral fissure, Hypoplasia of the corpus callosum, Ab... ORPHA:261652
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Brachycephaly, Frontal bossing, Plagiocephaly OMIM:300064
Smith-Magenis Syndrome
Midface retrusion, Synophrys, Abnormality of the thyroid gland, Brachycephaly, Increased body wei... OMIM:182290
Grant Syndrome
Wormian bones, Abnormality of the glenoid fossa, Frontal bossing, Large fontanelles, Bowing of th... ORPHA:2097
Gillessen-Kaesbach-Nishimura Syndrome
Wide anterior fontanel, Epicanthus, Short long bone, Brachycephaly, Narrow greater sciatic notch,... OMIM:263210
Richieri-Costa/Guion-Almeida Syndrome
Abnormal digit morphology, Ptosis, Brachycephaly, Spina bifida occulta, Eyelid coloboma, Downslan... OMIM:268850
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Microcephaly ORPHA:169079
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Oligomenorrhea, Pituitary hypothyroidism, Hypopituitarism, Impotence, Adrenocorticotropic hormone... ORPHA:91354
Prolactin Deficiency, Isolated
Reduced circulating prolactin concentration, Infertility, Irregular menstruation OMIM:264110
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hypoplasia of the corpus callosum, Decreased body weight, Brachycephaly, Microcephaly, Precocious... OMIM:300958
Pseudodiastrophic Dysplasia
Frontal bossing, Midface retrusion, Phalangeal dislocation, Camptodactyly, Brachycephaly, Failure... OMIM:264180
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... ORPHA:443811
Neonatal Lupus Erythematosus
Hemolytic anemia, Abnormal cerebral white matter morphology, Neutropenia, Pancytopenia, Thrombocy... ORPHA:398124
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hypothyroidism, Lymphopenia, Delayed puberty, Diabetes mellitus OMIM:614162
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Cerebral atrophy, Neutropenia, Primary microcephaly, Abnormality of the basal gan... ORPHA:445038
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Pycnodysostosis
Wormian bones, Short toe, Frontal bossing, Abnormality of epiphysis morphology, Midface retrusion... ORPHA:763
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism, Frontal bossing, Upslanted palpebral fissure, Plagiocephaly, Clinodactyly, Brachy... OMIM:616789
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Ulnar-Mammary Syndrome
Hypoplasia of the radius, Postaxial hand polydactyly, Breast hypoplasia, Hypoplastic scapulae, Ax... OMIM:181450
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Amenorrhea... ORPHA:251937
Trichohepatoneurodevelopmental Syndrome
Hip dysplasia, Overlapping toe, Midface retrusion, Cerebral atrophy, Cholelithiasis, Decreased bo... OMIM:618268
Sponastrime Dysplasia
Hip subluxation, Metaphyseal irregularity, Flattened humeral epiphyses, Neutropenia, Small for ge... ORPHA:93357
Lujan-Fryns Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Macroorchidism, Brachycephaly... ORPHA:776
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Long eyelashes, Thick eyebrow, Brachycephaly, Spina bifida occulta ORPHA:1514
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Abnormality of epiphysis morphology, Large posterior fontanelle, Decreased circulating T4... ORPHA:226313
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sparse eyebrow, Agenesis of corpus callosum, Camptodactyly, Epicanthus, Small hand, Trigonocephal... ORPHA:459061
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Epicanthus, Sandal gap, Thick eyebrow, Syndactyly, Brachycephaly, Brachydactyly OMIM:614800
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Highly arched eyebrow, Craniosynostosis, Postaxial hand polydactyly, Sparse eyelashes, Overlappin... OMIM:213980
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Agenesis of corpus callosum, Absent extraocular muscles, Telecanthus, Brachycephaly, Hip dislocat... OMIM:109120
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Frontal bossing, Metaphyseal irregularity, Midface retrusion, Delayed ossification o... OMIM:271510
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Weight loss, Pancytopenia, Thrombocytopenia, Metrorrhagia, Leukopenia,... ORPHA:520
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Elevated circulating follicle stimulating hormone level, Male hypogona... OMIM:240950
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Sp... OMIM:308240
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Horizontal eyebrow, Midface retrusion, Upslanted palpebral fissure, Camptodactyly... ORPHA:369891
Muenke Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Short foot, Plagiocephaly, Carpal synostosis, Ptosis, B... ORPHA:53271
Holoprosencephaly 9
Cryptorchidism, Panhypopituitarism, Postaxial hand polydactyly, Partial agenesis of the corpus ca... OMIM:610829
Kleefstra Syndrome Due To 9Q34 Microdeletion
Cryptorchidism, Highly arched eyebrow, Abnormal testis morphology, Midface retrusion, Absent sept... ORPHA:96147
Cree Mental Retardation Syndrome
Cryptorchidism, Rocker bottom foot, Large fontanelles, Cutaneous finger syndactyly, Ptosis, Brach... OMIM:606851
Congenital Disorder Of Glycosylation, Type Iit
Iron deficiency anemia, Abnormal cerebral white matter morphology, Sandal gap, Small hand, Brachy... OMIM:618885
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Oculodentodigital Dysplasia, Autosomal Recessive
4-5 finger syndactyly, Large fontanelles, Frontal bossing, Broad long bones, Epicanthus, 2-4 toe ... OMIM:257850
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Wide anterior fontanel, Decreased circulating T4 level, Abnormality of thyroid physiology, Reduce... ORPHA:95715
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre... OMIM:618841
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism, Microcephaly, Brachycephaly OMIM:615419
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Congenital hip dislocation, Hyperechogenic pancreas, Hypothyro... ORPHA:456312
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Abnormality of the metacarpal bones, Ptosis, Brachycephaly, Brachydactyly, Turri... ORPHA:93262
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Short femur, Decreased fibular diameter, Fractured radius, Small for gestational a... OMIM:616897
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Cryptorchidism, Delayed closure of the anterior fontanelle, Laterally extended eyebrow, Hooded ey... OMIM:610759
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Weight loss, Pancytopenia, T... ORPHA:98850
Crouzon Disease
Frontal bossing, Midface retrusion, Conjunctivitis, Ptosis, Brachycephaly, Multiple suture cranio... ORPHA:207
Mesomelic Dysplasia, Nievergelt Type
Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostosis, Radioul... ORPHA:2633
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Epicanthus, Hashimoto thyroiditis, Brachycephaly, Abnormal B cell morphology, Hypoparathyroidism,... OMIM:618223
X-Linked Agammaglobulinemia
Neutropenia, Weight loss, Thrombocytopenia, Conjunctivitis, Recurrent cutaneous abscess formation... ORPHA:47
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic anem... ORPHA:572
Cdags Syndrome
Lambdoidal craniosynostosis, Ectropion, Frontal bossing, Midface retrusion, Parietal foramina, Sa... OMIM:603116
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism, Neutropenia, Failure to thrive, Microcephaly, Hip dislocation OMIM:618005
Hermansky-Pudlak Syndrome 2
Upslanted palpebral fissure, Epicanthus, Neutropenia, Thrombocytopenia, Reduced natural killer ce... OMIM:608233
Sweeney-Cox Syndrome
Wide anterior fontanel, Midface retrusion, Upper eyelid coloboma, Bilateral cryptorchidism, Asple... OMIM:617746
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Metaphyseal Chondrodysplasia, Jansen Type
Clubbing of fingers, Metaphyseal chondrodysplasia, Bowing of the long bones, Metaphyseal cupping,... OMIM:156400
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Cryptorchidism, Highly arched eyebrow, Frontal bossing, Chordee, Hypoplasia of the corpus callosu... OMIM:616728
Autosomal Agammaglobulinemia
Conjunctivitis, Epicanthus, Neutropenia, Failure to thrive ORPHA:33110
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Mental Retardation, X-Linked, Syndromic 12
Brachycephaly OMIM:309545
20Q11.2 Microduplication Syndrome
Cryptorchidism, Palpebral edema, Abnormal shape of the palpebral fissure, Epicanthus, Ptosis, Tri... ORPHA:363659
Hallermann-Streiff Syndrome
Metaphyseal widening, Cryptorchidism, Wormian bones, Frontal bossing, Thin calvarium, Platybasia,... OMIM:234100
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Neutropenia OMIM:618752
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Lymphopenia, Abnormal cerebral white matter morphology, 2-3 to... ORPHA:391307
Dyrk1A-Related Intellectual Disability Syndrome
Cryptorchidism, Toe syndactyly, Breast hypoplasia, Polydactyly, Hypoplasia of the corpus callosum... ORPHA:464306
Whim Syndrome 1
Neutropenia OMIM:193670
Warburg Micro Syndrome 3
Blepharophimosis, Hypoplasia of the corpus callosum, Secondary microcephaly, Cerebral cortical at... OMIM:614222
Hyperthyroidism, Familial Gestational
Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Hyperthyroidism OMIM:603373
Arthrogryposis And Ectodermal Dysplasia
Hypohidrosis, Blepharophimosis, Camptodactyly, Narrow palpebral fissure, Trichiasis, Absent eyebr... OMIM:601701
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Frontal bossing, Midface retrusion, Epicanthus, Plagiocephaly, Brachycephaly, Clinodactyly of the... OMIM:618430
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Preaxial hand polydactyly, Pachygyria, Broad thumb, Large fontanelles, Finger syndactyly, Broad h... ORPHA:2211
Congenital Disorder Of Glycosylation, Type Iq
Polymicrogyria, Brachycephaly, Microcytic anemia OMIM:612379
Skin Creases, Congenital Symmetric Circumferential, 1
Blepharophimosis, Hypoplasia of the corpus callosum, Upslanted palpebral fissure, Epicanthus, Hyp... OMIM:156610
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Biparietal narrowing, Frontal bossing, Short distal phalanx of toe, Epicanthus, Symphalangism aff... ORPHA:1292
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Finger syndactyly, Split hand, Brachycephaly, Brachydactyly, Turricephaly ORPHA:2145
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Agenesis of corpus callosum, Overlapping toe, Camptodactyly, Distally placed thum... OMIM:619148
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Brachycephaly, Arachnodactyly OMIM:614416
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Trisomy 20P
Cryptorchidism, Highly arched eyebrow, Preaxial hand polydactyly, Camptodactyly of finger, Blepha... ORPHA:261318
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Microcephaly, Neutropenia, Anemia OMIM:617243
Cartilage-Hair Hypoplasia
Metaphyseal chondrodysplasia, Abnormality of epiphysis morphology, Short palm, Bowing of the long... ORPHA:175
Craniofrontonasal Syndrome
Cryptorchidism, Axillary pterygium, Agenesis of corpus callosum, Toe syndactyly, Frontal bossing,... OMIM:304110
Dysostosis, Stanescu Type
Wormian bones, Massively thickened long bone cortices, Abnormality of epiphysis morphology, Midfa... ORPHA:1798
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Cryptorchidism, Midface retrusion, Upslanted palpebral fissure, Epicanthus, Decreased body weight... OMIM:300260
Stevenson-Carey Syndrome
Hip dysplasia, Hypoplasia of the corpus callosum, Camptodactyly, Brachycephaly, Downslanted palpe... OMIM:611961
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hip dysplasia, Hypoplasia of the corpus callosum, Postaxial polydactyly, Abnormal cortical gyrati... OMIM:300968
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Hypoplasia of the radius, Thrombocytosis, Congenital... OMIM:105650
Saethre-Chotzen Syndrome
Cryptorchidism, Craniosynostosis, Broad thumb, Finger syndactyly, Blepharospasm, Epicanthus, Plag... ORPHA:794
Raine Syndrome
Highly arched eyebrow, Large fontanelles, Midface retrusion, Bowing of the long bones, Plagioceph... OMIM:259775
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Sclerotic cranial sutures, Broad metacarpals, Osteolysis involving bones of the upper limbs, Poly... ORPHA:371428
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Warburg Micro Syndrome 4
Cryptorchidism, Hypoplasia of the corpus callosum, Secondary microcephaly, Cerebral cortical atro... OMIM:615663
Methylmalonic Acidemia And Homocysteinemia, Cblx Type
Microcephaly, Brachycephaly, Failure to thrive OMIM:309541
Cutis Laxa, Autosomal Recessive, Type Iiia
Cryptorchidism, Wormian bones, Congenital hip dislocation, Large fontanelles, Frontal bossing, Wi... OMIM:219150
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Slender build, Cryptorchidism, Frontal bossing, Hypoplasia of the corpus callosum, Upslanted palp... ORPHA:466791
Apert Syndrome
Cryptorchidism, Humeroradial synostosis, Postaxial hand polydactyly, Preaxial hand polydactyly, L... OMIM:101200
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulating hormone concent... OMIM:145650
Nephrotic Syndrome, Type 14
Cryptorchidism, Hypothyroidism, Lymphopenia, Adrenal insufficiency, Ptosis, Microcephaly, Hypogon... OMIM:617575
Chromosome 6Pter-P24 Deletion Syndrome
Hip dysplasia, Rocker bottom foot, Agenesis of corpus callosum, Frontal bossing, Broad toe, Midfa... OMIM:612582
Myxedema
Hypothyroidism, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Hypohidrosis OMIM:255900
Craniosynostosis-Fibular Aplasia Syndrome
Cryptorchidism, Wormian bones, Large fontanelles, Midface retrusion, Ptosis, Brachycephaly, Micro... ORPHA:1533
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Midface retrusion, Hypothyroidism, Pancreatic fibrosis, Delayed puberty, Brachycephaly, Failure t... OMIM:616263
Beck-Fahrner Syndrome
Hip dysplasia, Lacrimal duct stenosis, Ptosis, Periventricular leukomalacia, Brachycephaly, Micro... OMIM:618798
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Abnormal... ORPHA:95613
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Cryptorchidism, Hypoplasia of the corpus callosum, Eversion of lateral third of lo... ORPHA:364028
Leigh Syndrome
Focal T2 hyperintense basal ganglia lesion, Hypoplasia of the corpus callosum, Diffuse spongiform... ORPHA:506
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Blepharophimosis, Cerebral co... ORPHA:2570
Kohlschutter-Tonz Syndrome-Like
Overweight, Midface retrusion, Death in adolescence, 2-3 toe syndactyly, Decreased body weight, S... OMIM:619229
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Rothmund-Thomson Syndrome
Infertility, Sparse eyebrow, Neutropenia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radiu... ORPHA:2909
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Congenital Disorder Of Glycosylation, Type Iic
Cerebral cortical atrophy, Reduction of neutrophil motility, Short foot, Neutrophilia, Microcepha... OMIM:266265
Aymé-Gripp Syndrome
Cryptorchidism, Rocker bottom foot, Craniosynostosis, Radioulnar synostosis, Large fontanelles, B... ORPHA:1272
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Megaloblastic anemia, Epicanthus, Neutropenia, Pancytopenia, Thrombocytopenia, Failure to thrive OMIM:277380
Crouzon Syndrome With Acanthosis Nigricans
Midface retrusion, Craniosynostosis, Brachycephaly OMIM:612247
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Horizontal eyebrow, Hypoplasia of the corpus callosum, Cerebral atrophy, Flat occiput, Thick eyeb... OMIM:618797
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Truncal obesity, Thick eyebrow, Delayed puberty, Brachycephaly, Tapered finger, S... OMIM:309585
Rothmund-Thomson Syndrome Type 2
Cryptorchidism, Aplasia/hypoplasia involving bones of the upper limbs, Metaphyseal sclerosis, Sho... ORPHA:221016
Kleefstra Syndrome 1
Cryptorchidism, Midface retrusion, Upslanted palpebral fissure, Synophrys, Brachycephaly, Microce... OMIM:610253
19P13.13 Microdeletion Syndrome
Corpus callosum atrophy, Epicanthus, Long eyelashes, Sandal gap, Clinodactyly, Brachycephaly, Hyp... ORPHA:357001
Mosaic Variegated Aneuploidy Syndrome 1
Cryptorchidism, Hypodysplasia of the corpus callosum, Midface retrusion, Upslanted palpebral fiss... OMIM:257300
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Highly arched eyebrow, Broad distal phalanx of finger, Abnormality of the epiphysis of the distal... ORPHA:2988
Marshall Syndrome
Hypohidrosis, Genu valgum, Frontal bossing, Thickened calvaria, Sparse and thin eyebrow, Brachyce... ORPHA:560
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Upslanted palpebral fissure, Epicanthus, Sparse and thin eyebrow, Bra... ORPHA:66625
Momo Syndrome
Frontal bossing, Short sternum, Epicanthus, Brachycephaly, Congenital pseudoarthrosis of the clav... ORPHA:2563
Pearson Syndrome
Exocrine pancreatic insufficiency, Reticulocytosis, Hypothyroidism, Neutropenia, Pancreatic fibro... ORPHA:699
Trisomy 9P
Brachycephaly, Downslanted palpebral fissures, Microcephaly, Clinodactyly of the 5th finger, Brac... ORPHA:236
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Pure red cell aplasia, Persistence of hemoglobin F, ... ORPHA:124
Dyggve-Melchior-Clausen Syndrome, X-Linked
Distal ulnar hypoplasia, Genu valgum, Hypoplastic pelvis, Carpal bone hypoplasia, Thickened calva... OMIM:304950
Brachycephaly, Deafness, Cataract, Microstomia, And Mental Retardation
Cryptorchidism, Rocker bottom foot, Breast hypoplasia, Finger clinodactyly, Hypoplasia of the cor... OMIM:601353
Alagille Syndrome
Cryptorchidism, Frontal bossing, Hypoplasia of the ulna, Short distal phalanx of finger, Delayed ... ORPHA:52
Trichothiodystrophy
Cryptorchidism, Craniosynostosis, Increased mean corpuscular hemoglobin concentration, Ectropion,... ORPHA:33364
Wieacker-Wolff Syndrome, Female-Restricted
Rocker bottom foot, Ptosis, Brachycephaly, Microcephaly, Hip dislocation OMIM:301041
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Frontal bossing, Camptodactyly, Cerebral atrophy, Epicanthus, Plagiocephaly, Hypoplastic nipples,... OMIM:280000
Apert Syndrome
Broad thumb, Ovarian neoplasm, Large fontanelles, Frontal bossing, Midface retrusion, Absent sept... ORPHA:87
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Flat occiput, Eosinophilia ORPHA:2582
Congenital Disorder Of Glycosylation, Type Iia
Long eyelashes, Slender long bone, Thick eyebrow, Brachycephaly, Failure to thrive, Downslanted p... OMIM:212066
Cleidocranial Dysplasia
Wormian bones, Genu valgum, Abnormal thumb morphology, Frontal bossing, Large fontanelles, Midfac... ORPHA:1452
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Metaphyseal irregularity, Hypoplasia of the corpus callosum, Carpal bone hypoplasia, Cerebral atr... OMIM:610442
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hypo... OMIM:615952
Osteogenesis Imperfecta, Type Xii
Midface retrusion, Wormian bones, Brachyturricephaly OMIM:613849
Fucosidosis
Hypothyroidism, Hyperhidrosis, Brachycephaly, Failure to thrive ORPHA:349
Aspergillosis
Abnormality of long bone morphology, Neutropenia, Eosinophilia, Dacryocystitis ORPHA:1163
Hyperphosphatasia-Intellectual Disability Syndrome
Hip dysplasia, Highly arched eyebrow, Shortening of all distal phalanges of the fingers, Upslante... ORPHA:247262
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... ORPHA:444463
Antley-Bixler Syndrome
Camptodactyly of finger, Craniosynostosis, Frontal bossing, Delayed cranial suture closure, Brach... ORPHA:83
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Retinal Venous Beading
Saccular conjunctival dilatations, Neutropenia OMIM:180080
Felty Syndrome
Abnormal lymphocyte morphology, Neutropenia, Weight loss, Thrombocytopenia, Anemia, Splenomegaly ORPHA:47612
Hypothyroidism Due To Tsh Receptor Mutations
Compensated hypothyroidism, Increased radioactive iodine uptake, Delayed proximal femoral epiphys... ORPHA:90673
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Dislocation of toes, Camptodactyly of toe, Synophrys, Downslanted pal... OMIM:300280
Distal Monosomy 12Q
Maturity-onset diabetes of the young, Wide anterior fontanel, Frontal bossing, Overlapping toe, S... ORPHA:96149
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Abnormal cerebral white matter morphology, Neutropenia, Thrombocytopenia, Anemi... ORPHA:540
Neonatal Alloimmune Neutropenia
Spontaneous abortion, Maternal diabetes, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Blepharophimosis, Hypoplasia of the corpus callosum, Upslanted palpeb... OMIM:244450
Frontonasal Dysplasia 3
Upper eyelid coloboma, Brachycephaly, Absent eyebrow, Sparse eyelashes OMIM:613456
Ataxia-Telangiectasia
Abnormal testis morphology, Lymphopenia, Aplasia/Hypoplasia of the thymus, Polycystic ovaries, De... ORPHA:100
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly ORPHA:79477
Cerebrofaciothoracic Dysplasia
Midface retrusion, Hypoplasia of the corpus callosum, Epicanthus, Synophrys, Cerebral cortical at... ORPHA:1394
Distal Monosomy 3P
Cryptorchidism, Postaxial hand polydactyly, Blepharophimosis, Abnormal vestibulo-ocular reflex, E... ORPHA:1620
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Congenital hypothyroidism, Calcaneovalgus deformity, Brachycephaly, Thyroid hypoplasia, Microceph... ORPHA:521445
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
White-Sutton Syndrome
Midface retrusion, Hypoplasia of the corpus callosum, Cerebral atrophy, Brachycephaly, Microcepha... OMIM:616364
9Q33.3Q34.11 Microdeletion Syndrome
Highly arched eyebrow, Cryptorchidism, Abnormal periventricular white matter morphology, Prominen... ORPHA:495818
X-Linked Intellectual Disability, Nascimento Type
Cryptorchidism, Hypointensity of cerebral white matter on MRI, Overlapping toe, Midface retrusion... ORPHA:163956
Adnp Syndrome
Cryptorchidism, Abnormality of toe, Broad thumb, Abnormality of finger, Slanting of the palpebral... ORPHA:404448
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Neutropenia, Anemia OMIM:617056
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia, Leukopenia ORPHA:292
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Death in childhood, B lymphocytopenia, Splenomegaly OMIM:619164
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Pfeiffer Syndrome Type 1
Short hallux, Broad thumb, Toe syndactyly, Finger syndactyly, Midface retrusion, Hallux varus, Br... ORPHA:93258
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Delayed proximal femoral ep... ORPHA:90674
Crouzon Syndrome
Lambdoidal craniosynostosis, Frontal bossing, Sagittal craniosynostosis, Dysgerminoma, Conjunctiv... OMIM:123500
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Midface retrusion, Decrease... ORPHA:314621
Hermansky-Pudlak Syndrome 10
Microcephaly, Cerebral atrophy, Neutropenia, Splenomegaly OMIM:617050
Momo Syndrome
Frontal bossing, Short sternum, Epicanthus, Brachycephaly, Eyelid coloboma, Downslanted palpebral... OMIM:157980
Baller-Gerold Syndrome
Large fontanelles, Frontal bossing, Bowing of the long bones, Epicanthus, Failure to thrive in in... ORPHA:1225
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Chime Syndrome
Abnormality of epiphysis morphology, Upslanted palpebral fissure, Epicanthus, Aplasia/Hypoplasia ... ORPHA:3474
Microphthalmia, Syndromic 6
Cryptorchidism, Lambdoidal craniosynostosis, Polydactyly, Cerebral cortical atrophy, Preaxial han... OMIM:607932
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Microcephaly, Brachycephaly, Dilation of lateral ventricles ORPHA:85290
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Large for gestational age, Brachycephaly, Hypoplasia of the ulna, Cerebral atrophy OMIM:615398
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Humeroradial synostosis, Lambdoidal craniosynostosis, Wide anterior fontanel,... OMIM:207410
Mirage Syndrome
Overlapping fingers, Cryptorchidism, Radial club hand, Rocker bottom foot, Hypergonadotropic hypo... OMIM:617053
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Neutropenia, Thrombocytopenia, Cerebral cortical atrophy, Failure to thrive... OMIM:277400
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal femoral torsion, Abnormal thumb morphology, Midface retrusion, Camptodactyly, Epicanthus... ORPHA:500095
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Congenital hypothyroidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:275200
Osteogenesis Imperfecta, Type Xx
Highly arched eyebrow, Wormian bones, Midface retrusion, Plagiocephaly, Sparse lateral eyebrow, B... OMIM:618644
Igg4-Related Ophthalmic Disease
Prostatitis, Enlarged lacrimal glands, Sialadenitis, Abnormality of the extraocular muscles, Abno... ORPHA:449563
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Hallermann-Streiff Syndrome
Cryptorchidism, Frontal bossing, Hypothyroidism, Abnormality of the fontanelles or cranial suture... ORPHA:2108
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metaphyseal widening, Delayed closure of the anterior fontanelle, Sclerotic cranial sutures, Prot... OMIM:259600
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Sepsis In Premature Infants
Abnormality of the anterior fontanelle, Leukocytosis, Neutropenia, Decreased body weight, Thrombo... ORPHA:90051
Cerebrooculonasal Syndrome
Craniosynostosis, Postaxial hand polydactyly, Frontal bossing, Hypoplasia of the corpus callosum,... OMIM:605627
Warburg Micro Syndrome 2
Cryptorchidism, Overlapping toe, Hypoplasia of the corpus callosum, Secondary microcephaly, Polym... OMIM:614225
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Neutropenia, Failure to thrive, Abscess, Eosinophilia OMIM:615816
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Frontal bossing, Midface retrusion, Neutropenia, Decreased body weight, Acute myeloid leukemia, A... OMIM:601347
Methylmalonic Aciduria, Cblb Type
Neutropenia, Pancytopenia, Thrombocytopenia, Anemia, Failure to thrive OMIM:251110
Cyclic Neutropenia
Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, Perianal abscess, Cycli... ORPHA:2686
Treacher-Collins Syndrome
Cryptorchidism, Absent eyelashes, Frontal bossing, Midface retrusion, Blepharospasm, Multiple enc... ORPHA:861
Camptodactyly Syndrome, Guadalajara, Type I
Wormian bones, Short metatarsal, Tubular metacarpal bones, Spina bifida occulta, Short femoral ne... OMIM:211910
Larsen-Like Syndrome
Wide anterior fontanel, Frontal bossing, Radial deviation of the 4th finger, Brachycephaly, Clino... OMIM:608545
Peroxisome Biogenesis Disorder 12A (Zellweger)
Delayed closure of the anterior fontanelle, Wide anterior fontanel, Cerebral atrophy, Epicanthus,... OMIM:614886
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Cryptorchidism, Craniosynostosis, Camptodactyly, Small for gestational age, Trigonocephaly, Downs... OMIM:309590
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Failure to thrive ORPHA:277
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Short eyelashes, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropen... OMIM:258360
Wiskott-Aldrich Syndrome
Abnormality of the menstrual cycle, Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lympho... ORPHA:906
Methylmalonic Aciduria, Cbla Type
Neutropenia, Pancytopenia, Thrombocytopenia, Anemia, Failure to thrive OMIM:251100
Necrotizing Enterocolitis
Thrombocytopenia, Small for gestational age, Neutropenia, Leukocytosis ORPHA:391673
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cryptorchidism, Rocker bottom foot, Epiphyseal stippling, Adrenal hypoplasia, Aplasia/Hypoplasia ... OMIM:214100
Transcobalamin Ii Deficiency
Neutropenia, Reticulocytopenia, Pancytopenia, Failure to thrive, Macrocytic anemia OMIM:275350
De Barsy Syndrome
Cryptorchidism, Delayed closure of the anterior fontanelle, Wormian bones, Congenital hip disloca... ORPHA:2962
Giant Axonal Neuropathy
Genu valgum, Abnormality of the pituitary gland ORPHA:643
Monosomy 9P
Cryptorchidism, Highly arched eyebrow, Postaxial hand polydactyly, Abnormality of the tarsal bone... ORPHA:261112
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia OMIM:600351
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Eyelid coloboma, Frontal bossing, Broad proximal phalanges of the hand, Short foot, Brachyturrice... OMIM:607597
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
1P36 Deletion Syndrome
Cryptorchidism, Cerebral cortical atrophy, Annular pancreas, Obesity, Hip dysplasia, Hypogonadism... ORPHA:1606
Cornelia De Lange Syndrome 1
Cryptorchidism, Highly arched eyebrow, Hypoplasia of the radius, Dislocated radial head, Hypoplas... OMIM:122470
Kleefstra Syndrome
Cryptorchidism, Highly arched eyebrow, Upslanted palpebral fissure, Synophrys, Cerebral cortical ... ORPHA:261494
Angelman Syndrome
Flat occiput, Cerebral cortical atrophy, Brachycephaly, Secondary microcephaly, Obesity OMIM:105830
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Irregular menstruation, Thyroiditis, Hypothyroidism, Chronic neutropenia, Polycystic... ORPHA:79259
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Craniosynostosis, Upper limb undergrowth, Upslanted palpebral fissure, Slender long bone, Brachyc...