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Gene: Gsx1 MGI:95842

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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:
Gsh1,  Gsh-1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
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, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty OMIM:612079
Sim1-Related Prader-Willi-Like Syndrome
Xerostomia, Premature adrenarche, Hypothalamic luteinizing hormone-releasing hormone deficiency, ... ORPHA:398079
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Genu valgum, Small pituitary gland, Decreased testicular size OMIM:614880
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Frontal bossing, Decreased response to growth hormone stimulation test, Anterior pituitary hypopl... OMIM:618160
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:95513
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... OMIM:612702
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... OMIM:618157
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Frontal bossing, Anterior pituitary hypoplasia, Redu... OMIM:613038
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Flat occiput, Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ovary, Streak ovary,... ORPHA:2232
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Precocious puberty, Cryptorchidism, Almond-shaped palpebral fissure, Xerostom... ORPHA:398069
Potocki-Shaffer Syndrome
Epicanthus, Parietal foramina, Brachycephaly, Delayed puberty, Hypothyroidism, Anemia ORPHA:52022
Microcephaly-Microcornea Syndrome, Seemanova Type
Upslanted palpebral fissure, Epicanthus, Hypogonadism, Brachycephaly ORPHA:2528
Prader-Willi Syndrome
Decreased response to growth hormone stimulation test, Xerostomia, Premature adrenarche, Precocio... ORPHA:739
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:91355
Septooptic Dysplasia
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Polydactyly... OMIM:182230
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... OMIM:173100
Pituitary Hormone Deficiency, Combined, 3
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... OMIM:221750
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Epicanthus, Tapered finger, Synophrys, Obesity, Brachycephaly, Congenital hypothyroidism, Horizon... ORPHA:352530
Pierpont Syndrome
Short palm, Prominent fingertip pads, Telecanthus, Cryptorchidism, Short toe, Brachycephaly, Shor... OMIM:602342
Cohen Syndrome
Short metacarpal, Small for gestational age, Decreased response to growth hormone stimulation tes... OMIM:216550
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia OMIM:616022
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Culler-Jones Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Postaxial polydactyly, Cryptorchidism... OMIM:615849
Joubert Syndrome 38
Frontal bossing, Epicanthus, Decreased serum insulin-like growth factor 1, Ectopic posterior pitu... OMIM:619476
Fg Syndrome Type 1
Finger syndactyly, Broad toe, Slender build, Craniosynostosis, Abnormal thumb morphology, Cryptor... ORPHA:93932
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Neutropenia, Chronic Familial
Clubbing of fingers, Clubbing, Neutropenia OMIM:162700
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Hypothyroidism OMIM:275120
Non-Distal Duplication 10Q
Frontal bossing, Cryptorchidism, Brachycephaly, Blepharophimosis, Downslanted palpebral fissures ORPHA:1695
Acromelic Frontonasal Dysplasia
Telecanthus, Anterior pituitary hypoplasia, Cryptorchidism, Brachycephaly, Patellar hypoplasia, P... ORPHA:1827
Lig4 Syndrome
Epicanthus, Pancytopenia, Small for gestational age, Cryptorchidism, Brachycephaly, Upslanted pal... OMIM:606593
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98754
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Cornelia De Lange Syndrome 5
Telecanthus, Toe syndactyly, Highly arched eyebrow, Proximal placement of thumb, Cryptorchidism, ... OMIM:300882
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98793
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Impotence, Neutropenia, Lymphopenia, Anemia, Amenorrhea OMIM:604250
Cog2-Cdg
Small pituitary gland ORPHA:435934
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177904
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177901
Chromosome 2Q37 Deletion Syndrome
Short fourth metatarsal, Short metacarpal, Highly arched eyebrow, Short toe, Obesity, Brachycepha... OMIM:600430
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Central hy... OMIM:616113
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Frontal bossing, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Highly a... OMIM:600325
Potocki-Shaffer Syndrome
Epicanthus, Telecanthus, 2-5 finger cutaneous syndactyly, Turricephaly, Parietal foramina, Brachy... OMIM:601224
Laurence-Moon Syndrome
Finger syndactyly, Epicanthus, Cryptorchidism, Obesity, Brachycephaly, Hand polydactyly, Type II ... ORPHA:2377
Pierpont Syndrome
Telecanthus, Small for gestational age, Cryptorchidism, Short toe, Brachycephaly, Narrow palpebra... ORPHA:487825
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... OMIM:609757
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Lig4 Syndrome
Epicanthus, Telecanthus, Pancytopenia, Cryptorchidism, Leukocytosis, Brachycephaly, Acute leukemi... ORPHA:99812
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Chromosome 3Q13.31 Deletion Syndrome
Epicanthus, Proximal placement of thumb, Cryptorchidism, Brachycephaly, Plagiocephaly, Dolichocep... OMIM:615433
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Synophrys, Long eyelashes, Pituitary hypothyroidism, Anterior pituitary hypoplasia OMIM:619983
Chromosome 3Pter-P25 Deletion Syndrome
Epicanthus, Flat occiput, Small for gestational age, Overlapping toe, Highly arched eyebrow, Tape... OMIM:613792
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus, Death in childhood OMIM:200900
Pontocerebellar Hypoplasia, Type 15
Death in infancy, Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Intellectual Developmental Disorder, Autosomal Dominant 26
Epicanthus, Thick eyebrow, Small for gestational age, Highly arched eyebrow, Brachycephaly, Upsla... OMIM:615834
X-Linked Intellectual Disability, Sutherland-Haan Type
Small for gestational age, Brachycephaly, Upslanted palpebral fissure, Decreased body weight, Dec... ORPHA:93950
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Chronic neutropenia, Thrombocytopenia OMIM:619301
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Failure to... OMIM:615285
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Gomez-Lopez-Hernandez Syndrome
Turricephaly, Decreased response to growth hormone stimulation test, Craniosynostosis, Wide anter... OMIM:601853
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Failure to thrive OMIM:617585
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Gómez-López-Hernández Syndrome
Telecanthus, Brachycephaly, Turricephaly, Midface retrusion ORPHA:1532
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:229050
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
Cerebellar Ataxia-Hypogonadism Syndrome
Hypogonadotropic hypogonadism, Supernumerary nipple, Decreased fertility, Brachycephaly, Hypogona... ORPHA:1173
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Severe B lymp... ORPHA:293978
Muenke Syndrome
Brachydactyly, Broad hallux, Capitate-hamate fusion, Brachycephaly, Cone-shaped epiphyses of the ... OMIM:602849
Deeah Syndrome
Death in infancy, Epicanthus, Decreased hemoglobin concentration, Decreased response to growth ho... OMIM:619004
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Midface retrusion, Brachycephaly, Brachydactyly ORPHA:35099
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating thyroid-stimulating hormone concentration, Neonatal epiphyseal stippling, Sh... OMIM:101800
Cornelia De Lange Syndrome 2
Brachydactyly, Highly arched eyebrow, Proximal placement of thumb, Synophrys, Small hand, Brachyc... OMIM:300590
Pelger-Huet Anomaly
Frontal bossing, Abnormality of neutrophils, Thrombocytopenia, Hyposegmentation of neutrophil nuc... OMIM:169400
Specific Granule Deficiency 2
Death in infancy, Absent neutrophil specific granules, Sandal gap, Thrombocytopenia, Neutropenia,... OMIM:617475
Immunodeficiency 46
Intermittent thrombocytopenia, Conjunctivitis, Neutropenia, Failure to thrive, Anemia OMIM:616740
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Long eyelashes, Clinodactyl... OMIM:618577
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Turricephaly, Craniosynostosis, Cryptorchidism, Obesity... ORPHA:171839
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of the 4th finger... OMIM:616738
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Bardet-Biedl Syndrome 8
Brachycephaly, Hypogonadism, Obesity, Postaxial polydactyly OMIM:615985
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Epicanthus, Toe syndactyly, Anterior pituitary hypoplasia, Adrenal hypoplasia,... ORPHA:264200
Inverted Duplicated Chromosome 15 Syndrome
Frontal bossing, Epicanthus, Precocious puberty, Cryptorchidism, Synophrys, 2-3 toe syndactyly, B... ORPHA:3306
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, Hypothyroidism,... OMIM:609053
Pde4D Haploinsufficiency Syndrome
Short metatarsal, Brachycephaly, Elevated circulating parathyroid hormone level, Bilateral coxa v... ORPHA:439822
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Downslanted palpebral fissures, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Clark-Baraitser Syndrome
Epicanthus, Sandal gap, Obesity, Brachycephaly, Upslanted palpebral fissure, Narrow palpebral fis... OMIM:617752
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Synophrys, Neutropenia, Clinodactyly of the 5th finger, Downslanted palpebral fis... OMIM:618067
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Brachycephaly, Clinodactyly of the 5th finger,... OMIM:201000
Septo-Optic Dysplasia Spectrum
Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, Hypohidrosis, Abnormal... ORPHA:3157
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... ORPHA:67045
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Hypothy... OMIM:618849
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Acrodysostosis
Hypoplasia of the ulna, Epicanthus, Short metacarpal, Abnormal morphology of the radius, Abnormal... ORPHA:950
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Flat occiput, Overlapping toe, Down-sloping shoulders, Highly arched eyebrow, Tapered finger, Cry... OMIM:617452
Chromosome 14Q11-Q22 Deletion Syndrome
Epicanthus, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidism, C... OMIM:613457
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Toe syndactyly, Arachnodactyly, Overlapping toe, Highly ... ORPHA:505237
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Postaxial polydactyly, Cryptorchidism, Bilateral ptosis, 2-3 toe syndactyl... ORPHA:404440
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Immunodeficiency 102
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... OMIM:301082
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Bilateral cryptorchidism, Neutropenia, Trigonocephaly, Failure to thrive, Ectropion OMIM:616395
Ritscher-Schinzel Syndrome 1
Syndactyly, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Brachyceph... OMIM:220210
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Telecanthus, Broad hallux, Clinodactyly of the 2nd toe, Precocious puberty, Cryptorchidism, Coxa ... OMIM:620073
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal distal phalanx morphology of finger, Hypogonadotropic hypogonadism, Cryptorchidism, Brac... ORPHA:1387
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Anemia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocytopenia ORPHA:79312
Craniofrontonasal Dysplasia
Finger syndactyly, Broad hallux phalanx, Frontal bossing, Sandal gap, Camptodactyly of finger, Do... ORPHA:1520
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachydactyly, Flat occiput, Abnormal thumb morphology, Abnormal finger morphology, Brachycephaly... ORPHA:2511
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Slender build, Brachycephaly OMIM:300699
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Epicanthus, Frontal bossing, Failure to thrive in infancy, Cachexia, Tapered fin... OMIM:616801
2Q32Q33 Microdeletion Syndrome
Broad hallux phalanx, Arachnodactyly, Brachycephaly, Broad thumb, Toe clinodactyly, Clinodactyly ... ORPHA:251019
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Frontal bossing, Bowed humerus, Short long bone, Small pituitary g... OMIM:619479
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Diabetes insipidus, T... OMIM:598500
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Adenylosuccinate Lyase Deficiency
Flat occiput, Brachycephaly ORPHA:46
German Syndrome
Abnormal eyebrow morphology, Camptodactyly of finger, Cryptorchidism, Synophrys, Brachycephaly, D... ORPHA:2077
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly, Hip subluxation OMIM:620200
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
48,Xxxy Syndrome
Epicanthus, Down-sloping shoulders, Coxa valga, Cryptorchidism, Hip dislocation, Obesity, Brachyc... ORPHA:96263
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Coombs-positive hemolytic anemia, Ne... OMIM:304790
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Metaphyseal dysplasia, Epicanthus, Congenital hip dislocation, Aplastic a... OMIM:617052
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Shwachman-Diamond Syndrome 2
Normocytic anemia, Death in infancy, Exocrine pancreatic insufficiency, Metaphyseal widening, Thr... OMIM:617941
Cebalid Syndrome
Turricephaly, Highly arched eyebrow, Platystencephaly, Brachycephaly, Plagiocephaly, Dolichocepha... OMIM:618774
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Intellectual Developmental Disorder, Autosomal Dominant 23
Sandal gap, Postaxial polydactyly, Synophrys, Brachycephaly, Upslanted palpebral fissure, Broad d... OMIM:615761
8Q12 Microduplication Syndrome
Epicanthus, Telecanthus, Highly arched eyebrow, Brachycephaly, Short foot, Long palpebral fissure ORPHA:228399
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland OMIM:614195
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Proboscis, Abnormality... ORPHA:220386
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Proboscis, Abnormality... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Proboscis, Abnormality... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Proboscis, Abnormality... ORPHA:93924
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia, Decreased response to growth hormone stimulation test, Proximal pl... OMIM:618624
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Tapered finger, Small hand, Brachycephaly, Upslanted palpebral fissure, Prominent occiput, Hip dy... OMIM:618672
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Wide capital femoral epiphyses, Small for gestational age, Abnormality of thyroid ph... ORPHA:1830
Hamamy Syndrome
Hypoparathyroidism, Syndactyly, Telecanthus, Long toe, Sparse eyelashes, Down-sloping shoulders, ... OMIM:611174
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T ce... ORPHA:169154
Gorlin Syndrome
Frontal bossing, Epicanthus, Telecanthus, Hypogonadotropic hypogonadism, Arachnodactyly, Cryptorc... ORPHA:377
Cohen Syndrome
Finger syndactyly, Failure to thrive in infancy, Arachnodactyly, Sandal gap, Abnormal eyelid morp... ORPHA:193
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
2Q23.1 Microdeletion Syndrome
Sandal gap, Highly arched eyebrow, Cryptorchidism, Synophrys, Brachycephaly, Hip dysplasia, Short... ORPHA:228402
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal dysplasia, Frontal bossing, Turricephaly, Short iliac bones, Metaphyseal sclerosis, A... OMIM:607944
Prader-Willi Syndrome Due To Translocation
Flat occiput, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation tes... ORPHA:177907
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Epicanthus, Telecanthus, Toe syndactyly, Brachydactyly, Highly arched eyebrow, Cam... ORPHA:1327
Down Syndrome
Epicanthus, Sandal gap, Obesity, Decreased fertility, Brachycephaly, Upslanted palpebral fissure,... ORPHA:870
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Metaphyseal sclerosis, Metaphyse... OMIM:260400
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Metaphyseal dysplasia, Macrocytic ane... OMIM:250250
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Frontal bossing, Craniosynostosis, Bilateral cryptorchidism, Brachycephaly, Downslanted palpebral... ORPHA:314575
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Epicanthus, Cryptorchidism, Brachycephaly, Upslanted palpebral fissure, Plagiocephaly... ORPHA:369891
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypogonadotropic hypogonadis... ORPHA:478
19P13.12 Microdeletion Syndrome
Finger syndactyly, Epicanthus, Toe clinodactyly, Sandal gap, Craniosynostosis, Precocious puberty... ORPHA:254346
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Thickened calvaria, Brachycephaly, Craniosynostosis ORPHA:178377
Wolcott-Rallison Syndrome
Metaphyseal dysplasia, Neonatal insulin-dependent diabetes mellitus, Neutropenia, Central hypothy... ORPHA:1667
Chilton-Okur-Chung Neurodevelopmental Syndrome
Short fourth metatarsal, Hooded eyelid, Anterior pituitary hypoplasia, Synophrys, Posterior plagi... OMIM:619841
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Bilateral ptosis, Downslanted palpebral fissures, Brachycephaly OMIM:618859
Craniosynostosis 6
Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi... OMIM:616602
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Syndactyly, Frontal bossing, Lacrimal duct stenosis, Ant... OMIM:151050
3P25.3 Microdeletion Syndrome
Epicanthus, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial... ORPHA:435638
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Frontal bossing, Telecanthus, Cryptorchidism, Brachycephaly, Upslanted palpebral fissure, Hypogon... ORPHA:228390
Chromosome 5P13 Duplication Syndrome
Frontal bossing, Epicanthus, Turricephaly, Small for gestational age, Craniosynostosis, Blepharop... OMIM:613174
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Frontal bossing, Arachnodactyly, Postaxial polydactyly, Tapered finger, Dolichocephaly, Brachycep... OMIM:619721
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Absent... OMIM:227650
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Death in infancy, Lymphopenia, Autoimmune thrombocy... OMIM:617514
Smith-Magenis Syndrome
Frontal bossing, Toe syndactyly, Failure to thrive in infancy, Precocious puberty, Synophrys, Obe... ORPHA:819
Rothmund-Thomson Syndrome Type 1
Short metacarpal, Premature ovarian insufficiency, Small for gestational age, Aplastic anemia, Me... ORPHA:221008
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Peroxisomal Acyl-Coa Oxidase Deficiency
Frontal bossing, Brachycephaly OMIM:264470
49,Xxxxy Syndrome
Epicanthus, Down-sloping shoulders, Coxa valga, Cryptorchidism, Hip dislocation, Brachycephaly, U... ORPHA:96264
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Pancreatitis, Anemia, Neutropenia ORPHA:289916
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Normochromic anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:614857
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Nabais Sa-De Vries Syndrome, Type 1
Epicanthus, Telecanthus, Highly arched eyebrow, Synophrys, Brachycephaly, Narrow palpebral fissur... OMIM:618828
Schimke Immunoosseous Dysplasia
Pancytopenia, Small for gestational age, Bilateral cryptorchidism, Thrombocytopenia, Elevated cir... OMIM:242900
Vulto-Van Silfhout-De Vries Syndrome
Frontal bossing, Epicanthus, 2-3 toe cutaneous syndactyly, Brachycephaly, Upslanted palpebral fis... OMIM:615828
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow... OMIM:619503
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Frontal bossing, Cryptorchidism, Brachycephaly, Upslanted palpebral fissure, Plagiocephaly, Clino... OMIM:616789
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Frontal bossing, Pancytopenia, Failure to thrive in infancy, Dolichocephaly, Hypersplenism, Thyro... ORPHA:228426
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Frontal bossing, Epicanthus, Coxa valga, Wide anterior fontanel, Brachycephaly, Flat acetabular r... ORPHA:163649
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Supernumerary nipple, Synophrys, Brachycephaly, Upslanted palpebral fissure, Ptosis OMIM:616083
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Congenital Disorder Of Glycosylation, Type Iit
Sandal gap, Small hand, Brachycephaly, Pineal cyst, Short foot, Iron deficiency anemia, Downslant... OMIM:618885
Chromosome 2P16.1-P15 Deletion Syndrome
Epicanthus, Telecanthus, Arachnodactyly, Metatarsus adductus, Cryptorchidism, Calcaneovalgus defo... OMIM:612513
Chromosome 17P13.1 Deletion Syndrome
Hallux valgus, Epicanthus, Telecanthus, Arachnodactyly, Broad hallux, Highly arched eyebrow, Prox... OMIM:613776
Monosomy 18P
Ptosis, Epicanthus, Brachycephaly, Hypothyroidism, Brachydactyly ORPHA:1598
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Epicanthus, Cryptorchidism, 2-3 toe cutaneous syndactyly, Brachycephaly, Upslanted palpebral fiss... OMIM:300260
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Absent thumb, Absent rad... OMIM:600901
Pontocerebellar Hypoplasia, Type 3
Long palpebral fissure, Brachycephaly, Decreased body weight OMIM:608027
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Epicanthus, Aplasia of the thymus, Decreased response to growth hormone stimu... OMIM:618223
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Frontal bossing, Brachydactyly, Flat capital femoral epiphysis, Metaphyseal widening, Coxa vara, ... OMIM:271510
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology OMIM:613502
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Synophrys, Increased body weight, Brachycephaly, Short palm, Mi... OMIM:182290
Trichohepatoneurodevelopmental Syndrome
Synophrys, Brachycephaly, Clinodactyly of the 5th finger, Bilateral coxa valga, Hypothyroidism, F... OMIM:618268
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Downslanted palpe... OMIM:618736
Fanconi Anemia, Complementation Group C
Epicanthus, Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Absent thumb... OMIM:227645
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Congenital Disorder Of Glycosylation, Type Iif
Flat occiput, Macrothrombocytopenia, Neutropenia, Clinodactyly, Thrombocytopenia OMIM:603585
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Propionic Acidemia
Pancytopenia, Anemia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocytopenia OMIM:606054
Pediatric-Onset Graves Disease
Craniosynostosis, Abnormal eyelid morphology, Puberty and gonadal disorders, Splenomegaly, Thyrot... ORPHA:525731
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly ORPHA:2898
Craniofacial Dyssynostosis With Short Stature
Frontal bossing, Cryptorchidism, Brachycephaly, Abnormal shape of the occiput, Brachyturricephaly... OMIM:218350
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Hypop... OMIM:618841
Mucopolysaccharidosis-Plus Syndrome
Epicanthus, Telecanthus, Thrombocytopenia, Synophrys, Metaphyseal widening, Clubbing, Neutropenia... OMIM:617303
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Upslanted palpebral fissure, Plagiocephaly, Unilateral cryptorchidism, Brachycephaly OMIM:618862
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Pgm3-Cdg
Hemolytic anemia, Lymphopenia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnorma... ORPHA:443811
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Frontal bossing, Telecanthus, Arachnodactyly, Brachycephaly, Camptodactyly, Downslanted palpebral... OMIM:615539
Pseudodiastrophic Dysplasia
Frontal bossing, Phalangeal dislocation, Brachycephaly, Camptodactyly, Failure to thrive, Midface... OMIM:264180
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Frontal bossing, Epicanthus, Sandal gap, Tapered finger, Obesity, Brachycephaly, Plagiocephaly, C... OMIM:618430
Acrofrontofacionasal Dysostosis
Ptosis, Brachydactyly, Camptodactyly of finger, Brachycephaly, Eyelid coloboma, Abnormal epiphysi... ORPHA:1784
Poikiloderma With Neutropenia
Frontal bossing, Sparse eyebrow, Splenomegaly, Nasolacrimal duct obstruction, Leukopenia, Conjunc... OMIM:604173
Whim Syndrome 1
Neutropenia OMIM:193670
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocytopenia OMIM:251000
2P15P16.1 Microdeletion Syndrome
Epicanthus, Telecanthus, Sandal gap, Camptodactyly of finger, Supernumerary nipple, Tapered finge... ORPHA:261349
Acromelic Frontonasal Dysostosis
Syndactyly, Telecanthus, Parietal foramina, Cryptorchidism, Preaxial polydactyly, Preaxial foot p... OMIM:603671
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Brachycephaly, Camptodactyly, Clinodactyly of the 5th finger, Midface retrusion OMIM:179613
Frontonasal Dysplasia 2
Telecanthus, Sparse eyelashes, Craniosynostosis, Bilateral cryptorchidism, Sparse eyebrow, Pariet... OMIM:613451
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Weight loss, Inc... ORPHA:98850
Even-Plus Syndrome
Epiphyseal dysplasia, Highly arched eyebrow, Synophrys, Brachycephaly, Midface retrusion, Dysplas... OMIM:616854
Oculocerebrofacial Syndrome, Kaufman Type
Absent eyebrow, Epicanthus, Telecanthus, Arachnodactyly, Flat occiput, Brachycephaly, Upslanted p... ORPHA:2707
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Thrombocytopenia, Leukocytosis, Weight loss, Leukopenia, Neutropenia,... ORPHA:520
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Anemia of inadequate production, Absent thumb, Unilateral radial aplasia,... OMIM:614900
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Neonatal Alloimmune Neutropenia
Miscarriage, Neutropenia in presence of anti-neutropil antibodies, Maternal diabetes ORPHA:464370
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Failure to thrive, Diabetes mellitus, Congenital hip dislocation, Ulnar deviation of the 3rd fing... ORPHA:456312
Ulnar-Mammary Syndrome
Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m... OMIM:181450
Congenital Heart Defects And Ectodermal Dysplasia
Medial flaring of the eyebrow, Frontal bossing, 2-3 toe cutaneous syndactyly, Brachycephaly, Broa... OMIM:617364
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Brachycephaly, Long eyelashes, Spina bifida occulta, Thick eyebrow ORPHA:1514
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism, Brachycephaly OMIM:615419
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Brachycephaly OMIM:309545
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia, Exocrine pancreatic insufficiency OMIM:618752
Desanto-Shinawi Syndrome
Synophrys, Brachycephaly, Thick eyebrow, Midface retrusion OMIM:616708
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... OMIM:308240
Martsolf Syndrome 1
Epicanthus, Short metacarpal, Hypogonadotropic hypogonadism, Metatarsus adductus, Cryptorchidism,... OMIM:212720
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Thrombocytopenia, Weight loss, Conjunctivitis, Neutropenia... ORPHA:47
Isolated Exencephaly
Anterior pituitary hypoplasia, Maternal diabetes, Abnormal calvaria morphology, Posterior pituita... ORPHA:563612
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hip contracture, Bowing of the long bones, Metaphyseal chondrodysplasia, Brac... OMIM:156400
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Epicanthus, Small for gestational age, Short foot, Plagiocephaly, Neutropenia, Failure to thrive,... OMIM:615471
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Failure to thrive, Brachycephaly OMIM:309541
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Ptosis, Turricephaly, Brachycephaly, Abnormal metacarpal morphology, Brachydactyly ORPHA:93262
Crouzon Syndrome
Frontal bossing, Turricephaly, Brachycephaly, Multiple suture craniosynostosis, Conjunctivitis, M... ORPHA:207
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hallux valgus, Thickened calvaria, Epicanthus, Frontal bossing, Anterior pituitary hypoplasia, Su... ORPHA:466791
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia, Hypothyroidism, Ptosis OMIM:251900
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Absent thumb, Absent rad... OMIM:227646
Autosomal Agammaglobulinemia
Epicanthus, Failure to thrive, Conjunctivitis, Neutropenia ORPHA:33110
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Cryptorchidism, Dilated third ventricle, Small hand, Brachycephaly, Short foot, Plagi... ORPHA:500055
Sponastrime Dysplasia
Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip... ORPHA:93357
Muenke Syndrome
Tarsal synostosis, Brachycephaly, Cone-shaped epiphysis, Short foot, Plagiocephaly, Short palm, C... ORPHA:53271
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Frontal bossing, Laterally extended eyebrow, Toe syndactyly, Hooded eyelid, Brachydactyly, Highly... OMIM:610759
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... ORPHA:572
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism, Erythroid hypoplasi... OMIM:612541
Al Kaissi Syndrome
Epicanthus, Telecanthus, Synophrys, Small hand, Brachycephaly, Decreased body weight, Clinodactyl... OMIM:617694
Apert Syndrome
Delayed epiphyseal ossification, Brachycephaly, Hyperhidrosis, Cutaneous finger syndactyly, Shall... OMIM:101200
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Tarsal synostosis, Camptodactyly of finger, Abnor... ORPHA:2633
Lujan-Fryns Syndrome
Arachnodactyly, Camptodactyly of finger, Brachycephaly, Macroorchidism, Brachydactyly ORPHA:776
Trisomy 20P
Finger syndactyly, Epicanthus, Frontal bossing, Camptodactyly of finger, Highly arched eyebrow, B... ORPHA:261318
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Plagiocephaly, Failure to thrive, Brachycephaly OMIM:618603
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, Hypothyroidism, Hip dislocation, Neutropenia OMIM:618005
Cutis Laxa, Autosomal Recessive, Type Iiia
Frontal bossing, Congenital hip dislocation, Cryptorchidism, Hip dislocation, Brachycephaly, Fail... OMIM:219150
Momo Syndrome
Frontal bossing, Epicanthus, Large for gestational age, Abnormality of the thyroid gland, Obesity... ORPHA:2563
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Brachycephaly, Decreased body weight OMIM:300958
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Grant Syndrome
Frontal bossing, Bowing of the long bones, Brachycephaly, Abnormal pelvic girdle bone morphology,... ORPHA:2097
Immunodeficiency 7
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Failure to thrive OMIM:615387
Kury-Isidor Syndrome
Finger syndactyly, Ptosis, Frontal bossing, Rocker bottom foot, Proximal placement of thumb, Brac... OMIM:619762
Oculodentodigital Dysplasia, Autosomal Recessive
Frontal bossing, Telecanthus, Epicanthus, Sparse eyelashes, Broad long bones, Fifth finger distal... OMIM:257850
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Wide anteri... OMIM:618150
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Highly arched eyebrow, Postaxial polydactyly, Preaxial polydactyly, Brachycephal... OMIM:618142
Gillessen-Kaesbach-Nishimura Syndrome
Epicanthus, Telecanthus, Wide anterior fontanel, Metaphyseal widening, Brachycephaly, Short long ... OMIM:263210
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:610829
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Small for gestational age, Pancreatic fibrosis, Refractory si... OMIM:557000
Methylcobalamin Deficiency Type Cble
Syndactyly, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia, Clin... ORPHA:2169
Kleefstra Syndrome Due To A Point Mutation
Tapered finger, Precocious puberty, Large for gestational age, Brachycephaly, Plagiocephaly, Abno... ORPHA:261652
Holoprosencephaly-Craniosynostosis Syndrome
Epicanthus, Brachydactyly, Craniosynostosis, Coxa valga, Brachycephaly, Upslanted palpebral fissu... ORPHA:2163
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short humerus, Short metacarpal, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopen... ORPHA:508542
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Infection associated neutropenia, Neutropenia ORPHA:445038
Xq28 (MECP2) duplication
Failure to thrive, Brachycephaly, Death in childhood DECIPHER:45
Frontofacionasal Dysplasia
Telecanthus, Blepharophimosis, Upper eyelid coloboma, Brachycephaly, Limbal dermoid, Absent inner... ORPHA:1791
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Congenital Disorder Of Glycosylation, Type Il
Frontal bossing, Hip dislocation, Brachycephaly, Hepatosplenomegaly, Failure to thrive OMIM:608776
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Fetal Trimethadione Syndrome
Epicanthus, Synophrys, Brachycephaly, Midface retrusion, Ptosis ORPHA:1913
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Thrombocytopenia-Absent Radius Syndrome
Brachycephaly, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoc... OMIM:274000
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Epicanthus, Bowing of the long bones, Abnormal distal phalanx morphology o... ORPHA:175
Congenital Muscular Dystrophy, Fukuyama Type
Plagiocephaly, Brachycephaly, Camptodactyly of finger, Dolichocephaly ORPHA:272
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Agranulocytosis, Hemophagocytosis, ... OMIM:301078
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Turricephaly, Craniosynostosis, Split hand, Brachycephaly, Brachydactyly ORPHA:2145
Sweeney-Cox Syndrome
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Flat occiput, Bilateral cryptorchidism, W... OMIM:617746
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Telecanthus, Epicanthus, Frontal bossing, Rocker bottom foot, Brachycephaly, Short 2nd... OMIM:612582
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, Dea... OMIM:619924
Ritscher-Schinzel Syndrome 4
Tapered finger, Cryptorchidism, Hip dislocation, Brachycephaly, Plagiocephaly, Hip dysplasia, Dow... OMIM:619435
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Epicanthus, Proximal radio-ulnar synostosis, Brachydactyly, Cra... ORPHA:794
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly, Oligodactyly OMIM:614416
20Q11.2 Microduplication Syndrome
Epicanthus, Palpebral edema, Trigonocephaly, Cryptorchidism, Brachycephaly, Short foot, Abnormal ... ORPHA:363659
Developmental Delay, Hypotonia, And Impaired Language
Cryptorchidism, Neutropenia OMIM:620012
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Cryptorchidism, Brachycephaly, Dilated third ventricle, Broad eyebrow OMIM:619244
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Small for gestational age, Anterior pituitary hypoplasia, Arachnod... ORPHA:464306
Alagille Syndrome
Hypoplasia of the ulna, Frontal bossing, Cryptorchidism, Spina bifida occulta, Brachycephaly, Del... ORPHA:52
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Enlarged interphalangeal joints, Highly arched eyebrow, Proximal placement of thumb, Abnormality ... ORPHA:2988
Chopra-Amiel-Gordon Syndrome
Almond-shaped palpebral fissure, Upslanted palpebral fissure, Brachycephaly, Midface retrusion OMIM:619504
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Large for gestational age, Thrombocytopenia, Neutropenia, Failure to thrive, Anemia OMIM:614520
Acrofrontofacionasal Dysostosis 2
Syndactyly, Broad hallux, Wide anterior fontanel, Brachycephaly, Hand polydactyly, Downslanted pa... OMIM:239710
Hydranencephaly
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland ORPHA:2177
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Brachycephaly, Eversion of lateral third of lower eyelids, Slender build, Ptosis ORPHA:364028
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Hyperthyroidism, Failure to thrive in infancy, Cachexia, Autoimmune ... ORPHA:37042
Rothmund-Thomson Syndrome Type 2
Short metacarpal, Small for gestational age, Aplasia/hypoplasia involving bones of the upper limb... ORPHA:221016
Cdags Syndrome
Ptosis, Frontal bossing, Sparse eyelashes, Sagittal craniosynostosis, Sparse eyebrow, Parietal fo... OMIM:603116
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Epicanthus, Broad hallux, Sandal gap, Hyposegmentation of neutrophil nuclei, Brachyce... OMIM:614800
Hyperparathyroidism, Transient Neonatal
Frontal bossing, Hyperparathyroidism, Short femur, Metaphyseal spurs, Brachycephaly, Femoral bowi... OMIM:618188
Distal Deletion 10Q
Frontal bossing, Epicanthus, Sandal gap, Craniosynostosis, Tapered finger, 2-3 toe cutaneous synd... ORPHA:96148
Ataxia-Telangiectasia
Lymphopenia, Failure to thrive, Diabetes mellitus, Polycystic ovaries, Type II diabetes mellitus,... ORPHA:100
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Osteolysis involving bones of the upper limbs, Brachycephaly, Polycystic ova... ORPHA:371428
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Brachycephaly ORPHA:70472
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... OMIM:619705
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Neutropenia OMIM:618253
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Epicanthus, Overlapping toe, Decreased response to growt... OMIM:213980
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Brachycephaly, Ptosis OMIM:619972
Kleefstra Syndrome 1
Cryptorchidism, Synophrys, Obesity, Brachycephaly, Upslanted palpebral fissure, Midface retrusion... OMIM:610253
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia OMIM:619752
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Telecanthus, Short femur, Small for gestational age, Fractured radius, Decreased fibular diameter... OMIM:616897
Richieri-Costa/Guion-Almeida Syndrome
Abnormal digit morphology, Brachycephaly, Eyelid coloboma, Spina bifida occulta, Downslanted palp... OMIM:268850
Arthrogryposis And Ectodermal Dysplasia
Absent eyebrow, Entropion, Diabetes mellitus, Trichiasis, Brachycephaly, Hypohidrosis, Narrow pal... OMIM:601701
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tapered finger, Long fingers, Brachycephaly, 2-3 toe syndactyly, Ptosis OMIM:218000
Kleefstra Syndrome Due To 9Q34 Microdeletion
Flat occiput, Highly arched eyebrow, Cryptorchidism, Synophrys, Obesity, Brachycephaly, Midface r... ORPHA:96147
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Brachycephaly ORPHA:320385
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Craniosynostosis, Midface retrusion OMIM:612247
Rothmund-Thomson Syndrome
Hypoplasia of the ulna, Sparse eyelashes, Small for gestational age, Aplastic anemia, Aplasia/Hyp... ORPHA:2909
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Highly arched eyebrow, Bilateral ptosis, Synophrys, 2-3 toe syndactyly, Coxa vara, Br... OMIM:614701
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Diabetes mellitus, Pancreatic fibrosis, Ulnar deviation of the 3rd finger, Proximal placement of ... OMIM:616263
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Epicanthus, Sagittal craniosynostosis, Sparse eyebrow, Scaphocephaly, Small hand, Brachycephaly, ... ORPHA:459061
Cree Mental Retardation Syndrome
Rocker bottom foot, Cryptorchidism, Brachycephaly, Cutaneous finger syndactyly, Downslanted palpe... OMIM:606851
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Brachycephaly OMIM:615031
Pearson Syndrome
Hypoparathyroidism, Ptosis, Reticulocytosis, Diabetes mellitus, Pancreatic fibrosis, Decreased re... ORPHA:699
Microphthalmia, Syndromic 3
Frontal bossing, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Cryptorchidism, Hy... OMIM:206900
Macrocephaly/Autism Syndrome
Frontal bossing, Epicanthus, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis, ... OMIM:605309
Cerebrooculonasal Syndrome
Epicanthus, Sparse eyelashes, Sparse eyebrow, Postaxial hand polydactyly, Brachycephaly, Upslante... ORPHA:66625
Hyperphosphatasia-Intellectual Disability Syndrome
Epicanthus, Highly arched eyebrow, Supernumerary nipple, Brachycephaly, Shortening of all distal ... ORPHA:247262
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Epicanthus, Pancytopenia, Small for gestational age, Megaloblastic anemia, Thrombocytopenia, Neut... OMIM:277380
Aspergillosis
Abnormal long bone morphology, Dacryocystitis, Eosinophilia, Neutropenia ORPHA:1163
Craniofrontonasal Syndrome
Frontal bossing, Telecanthus, Toe syndactyly, Broad hallux, Brachydactyly, Down-sloping shoulders... OMIM:304110
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Osteopathia Striata-Cranial Sclerosis Syndrome
Frontal bossing, Epicanthus, Flat occiput, Facial hyperostosis, High iliac wing, Brachycephaly, L... ORPHA:2780
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... OMIM:615952
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormality of thyroid physiology, Postaxial polydactyly, Tapered finger, Small hand, Hip disloca... OMIM:300968
Crouzon Syndrome
Frontal bossing, Sagittal craniosynostosis, Brachycephaly, Conjunctivitis, Lambdoidal craniosynos... OMIM:123500
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Frontal bossing, Highly arched eyebrow, Supernumerary nipple, Tapered finger, Cryptorchidism, Syn... OMIM:616728
Fucosidosis
Failure to thrive, Hypothyroidism, Brachycephaly, Hyperhidrosis ORPHA:349
Distal Deletion 12Q
Frontal bossing, Telecanthus, Diabetes mellitus, Unilateral cryptorchidism, Failure to thrive in ... ORPHA:96149
Griscelli Syndrome Type 2
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia ORPHA:79477
Khan-Khan-Katsanis Syndrome
Frontal bossing, Lymphopenia, Trichiasis, Highly arched eyebrow, Epiblepharon, Postaxial polydact... OMIM:618460
Felty Syndrome
Splenomegaly, Weight loss, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia ORPHA:47612
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Flat occiput, Eosinophilia ORPHA:2582
Hallermann-Streiff Syndrome
Frontal bossing, Sparse eyelashes, Small for gestational age, Sparse eyebrow, Cryptorchidism, Met... OMIM:234100
Chromosome 13Q33-Q34 Deletion Syndrome
Epicanthus, Small for gestational age, Overlapping toe, Tapered finger, Cryptorchidism, Short thu... OMIM:619148
Distal Deletion 3P
Epicanthus, Telecanthus, Cryptorchidism, Postaxial hand polydactyly, Brachycephaly, Clinodactyly ... ORPHA:1620
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Midface... ORPHA:93258
Hermansky-Pudlak Syndrome 2
Epicanthus, Absent platelet dense granules, Splenomegaly, Hepatosplenomegaly, Upslanted palpebral... OMIM:608233
Intellectual Developmental Disorder, Autosomal Dominant 29
Frontal bossing, Broad hallux, Sandal gap, Cryptorchidism, Synophrys, Obesity, Brachycephaly, Hip... OMIM:616078
Immunodeficiency 76
Splenomegaly, T lymphocytopenia, B lymphocytopenia, Death in childhood, Lymphopenia OMIM:619164
Craniosynostosis 2
Frontal bossing, Bicoronal synostosis, Turricephaly, Craniosynostosis, Brachycephaly, Triphalange... OMIM:604757
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Frontal bossing, Brachycephaly, Obesity, Plagiocephaly, Dilated third ventricle OMIM:617296
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:398124
Momo Syndrome
Frontal bossing, Epicanthus, Obesity, Brachycephaly, Eyelid coloboma, Short sternum, Downslanted ... OMIM:157980
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Telecanthus, Coxa valga, Hip dislocation, Brachycephaly, Absent extraocular muscles OMIM:109120
Mosaic Variegated Aneuploidy Syndrome 1
Epicanthus, Small for gestational age, Cryptorchidism, Brachycephaly, Upslanted palpebral fissure... OMIM:257300
Congenital Disorder Of Glycosylation, Type Iq
Failure to thrive, Brachycephaly, Microcytic anemia OMIM:612379
Warburg Micro Syndrome 4
Cryptorchidism, Brachycephaly, Decreased testicular size, Ptosis OMIM:615663
Barth Syndrome
Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia, Failure to thrive OMIM:302060
Frontonasal Dysplasia 3
Absent eyebrow, Brachycephaly, Sparse eyelashes, Upper eyelid coloboma OMIM:613456
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia OMIM:614868
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
9P13 Microdeletion Syndrome
Epicanthus, Highly arched eyebrow, Precocious puberty, Abnormality of cartilage of external ear, ... ORPHA:324313
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Frontal bossing, Epicanthus, Congenital hip dislocation, Almond-shaped palpebral fissure, Cryptor... OMIM:619512
Treacher-Collins Syndrome
Frontal bossing, Absent eyelashes, Cryptorchidism, Brachycephaly, Blepharospasm, Multiple enchond... ORPHA:861
Antley-Bixler Syndrome
Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Brachyc... ORPHA:83
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Congenital hip dislocation, Synophrys, Camptodactyly, Camptodactyly of toe, Disloc... OMIM:300280
Intellectual Developmental Disorder, Autosomal Dominant 53
Epicanthus, Short femur, Cryptorchidism, Brachycephaly, Genu valgum, Posterior plagiocephaly, Dow... OMIM:617798
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Failure to thrive, Brachycephaly OMIM:620240
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Abnormality of the menstrual cycle, Microcytic ... ORPHA:906
Giant Axonal Neuropathy
Abnormal pituitary gland morphology, Genu valgum ORPHA:643
Achondrogenesis, Type Ii
Frontal bossing, Broad long bones, Short tubular bones of the hand, Brachycephaly, Short long bon... OMIM:200610
Cleidocranial Dysplasia
Frontal bossing, Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb mor... ORPHA:1452
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:613989
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Rocker bottom foot, Tapered finger, Cryptorchidism, Brachycephaly, Finger clinodactyly, Long eyel... OMIM:601353
Kbg Syndrome
Syndactyly, Telecanthus, Cryptorchidism, Synophrys, Ulnar deviation of the 2nd finger, Brachyceph... OMIM:148050
Vici Syndrome
Lymphopenia, Epicanthus, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, Neutropenia, ... OMIM:242840
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Frontal bossing, Epicanthus, Brachycephaly, Symphalangism affecting the phalanges of the hand, Bi... ORPHA:1292
Skin Creases, Congenital Symmetric Circumferential, 1
Epicanthus, Long fingers, Brachycephaly, Upslanted palpebral fissure, Hypoplastic nipples, Blepha... OMIM:156610
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:292
Reni Syndrome
Cryptorchidism, Hypogonadism, Adrenal insufficiency, Lymphopenia, Hypothyroidism, Ptosis OMIM:617575
Diamond-Blackfan Anemia 1
Epicanthus, Failure to thrive, Macrocytic anemia, Absent thumb, Hypoplastic ilia, Short thumb, Pa... OMIM:105650
Neurofaciodigitorenal Syndrome
Epicanthus, Abnormal distal phalanx morphology of finger, Cryptorchidism, Brachycephaly, Plagioce... ORPHA:2673
Mirage Syndrome
Hypergonadotropic hypogonadism, Rocker bottom foot, Adrenal hypoplasia, Cryptorchidism, Radial cl... OMIM:617053
Leigh Syndrome
Abnormal thalamic MRI signal intensity, Neutropenia, Failure to thrive, Anemia, Ptosis ORPHA:506
Phosphoribosylaminoimidazole Carboxylase Deficiency
Bilateral cryptorchidism, Brachycephaly, Clinodactyly of the 5th finger, Neonatal death OMIM:619859
Immunodeficiency, Common Variable, 1
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class... OMIM:607594
Den Hoed-De Boer-Voisin Syndrome
Sandal gap, Overweight, Small hand, Obesity, 2-3 toe syndactyly, Death in adolescence, Short foot... OMIM:619229
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Frontal bossing, Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humero... OMIM:207410
Warburg Micro Syndrome 3
Blepharophimosis, Brachycephaly, Clinodactyly of the 5th finger, Decreased testicular size OMIM:614222
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Microphthalmia, Syndromic 6
Finger syndactyly, Failure to thrive, Toe syndactyly, Female hypogonadism, Thumb contracture, Adr... OMIM:607932
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:601859
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Abscess, Eosinophilia, Neutropenia, Lymphopenia OMIM:615816
Glycogen Storage Disease Ib
Pancreatic fibrosis, Splenomegaly, Delayed puberty, Xanthelasma, Neutropenia, Pancreatitis OMIM:232220
Igg4-Related Ophthalmic Disease
Palpebral edema, Eosinophilia, Abnormal morphology of bony orbit of skull, Abnormal eyelid morpho... ORPHA:449563
Diamond-Blackfan Anemia
Acute myeloid leukemia, Epicanthus, Small for gestational age, Pure red cell aplasia, Absent thum... ORPHA:124
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Rocker bottom foot, Hip dislocation, Brachycephaly, Ptosis OMIM:301041
Carpenter Syndrome 2
Bilateral cryptorchidism, Ectropion of lower eyelids, Preaxial polydactyly, Brachycephaly, Coxa v... OMIM:614976
Trichothiodystrophy
Epicanthus, Craniosynostosis, Cryptorchidism, Clubbing, Increased mean corpuscular hemoglobin con... ORPHA:33364
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... ORPHA:2686
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hallux valgus, Frontal bossing, Sandal gap, Spatulate thumbs, Broad distal phalanges of all finge... OMIM:245600
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Epicanthus, Arachnodactyly, Calcaneovalgus deformity, Brachycephaly, Camptodactyly, Downslanted p... ORPHA:562528
Cornelia De Lange Syndrome 1
Curly eyelashes, Highly arched eyebrow, Proximal placement of thumb, Cryptorchidism, Synophrys, H... OMIM:122470
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Macrophage Activation Syndrome
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... ORPHA:158061
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Epicanthus, Midface retrusion, Transient neutropenia, Chronic neutropenia, Large for gestational ... ORPHA:500095
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Menkes Disease
Brachycephaly, Metaphyseal widening, Metaphyseal spurs, Death in childhood OMIM:309400
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Epicanthus, Bowing of the long bones, Failure to thrive in infan... ORPHA:1225
Intellectual Developmental Disorder, Autosomal Dominant 1
Frontal bossing, Sandal gap, Highly arched eyebrow, Brachycephaly, Short foot, Hip dysplasia, Lon... OMIM:156200
Hypomandibular Faciocranial Dysostosis
Death in infancy, Craniosynostosis, Brachycephaly, Upslanted palpebral fissure, Trigonocephaly, D... ORPHA:1790
Larsen-Like Syndrome
Frontal bossing, Wide anterior fontanel, Brachycephaly, Radial deviation of the 4th finger, Clino... OMIM:608545
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Overlapping toe, Cryptorchidism, Synophrys, Clubbing of to... ORPHA:163956
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Tapered finger, Long fingers, Calcaneovalgus deformity, Brachycephaly, Congenital hypothyroidism,... ORPHA:521445
Aymé-Gripp Syndrome
Rocker bottom foot, Craniosynostosis, Tapered finger, Cryptorchidism, Bilateral ptosis, Brachycep... ORPHA:1272
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Brachycephaly ORPHA:85290
Contractural Arachnodactyly, Congenital
Hip contracture, Bowing of the long bones, Frontal bossing, Arachnodactyly, Dolichocephaly, Metat... OMIM:121050
Necrotizing Enterocolitis
Leukocytosis, Small for gestational age, Thrombocytopenia, Neutropenia ORPHA:391673
Duplication Of The Pituitary Gland
Abnormal pituitary gland morphology, Abnormal hypothalamus morphology, Decreased body weight, Bra... ORPHA:314621
Adnp Syndrome
Broad hallux, Sandal gap, Trigonocephaly, Abnormal toe morphology, Cryptorchidism, Bilateral ptos... ORPHA:404448
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ptosis, Telecanthus, Epicanthus, Brachydactyly, Frontal bossing, Highly arched eyebrow, Large for... OMIM:280000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Irregular menstruation, Thyroiditis, Polycystic ovaries, Xanthelasma, Menorr... ORPHA:79259
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... OMIM:214500
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Thrombocytopenia, Brachycephaly, Plagiocephaly, Leukopenia, Elliptocytosis, Seconda... ORPHA:2785
Marshall Syndrome
Frontal bossing, Sparse eyelashes, Sparse eyebrow, Brachycephaly, Genu valgum, Hypohidrosis, Thic... ORPHA:560
Stevenson-Carey Syndrome
Hip dysplasia, Downslanted palpebral fissures, Brachycephaly, Camptodactyly OMIM:611961
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Failure to... OMIM:275350
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Lymphocytosis, Short eye... OMIM:258360
9Q33.3Q34.11 Microdeletion Syndrome
Telecanthus, Highly arched eyebrow, Cryptorchidism, Patellar aplasia, Brachycephaly, Patellar hyp... ORPHA:495818
Pfeiffer Syndrome
Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, C... OMIM:101600
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hip contracture, Frontal bossing, Interphalangeal joint contracture of finger, Protrusio acetabul... OMIM:259600
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Sparse eyebrow, Cryptorchidism, Synophrys, Long fingers,... OMIM:309583
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Craniosynostosis, Precocious puberty, Upper limb undergrowth, Obesity, Brachy... ORPHA:369837
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Brachydactyly, Small for gestational age, Overlapping toe, Trigonocephaly, Tapered finger, Cranio... OMIM:309590
Down Syndrome
Epicanthus, Sandal gap, Hypoplastic iliac wing, Brachycephaly, Shallow acetabular fossae, Upslant... OMIM:190685
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand... ORPHA:3103
Congenital Disorder Of Glycosylation, Type Iia
Proximal placement of thumb, Coxa valga, Brachycephaly, Slender long bone, Long eyelashes, Failur... OMIM:212066
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:251110
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Telecanthus, Broad proximal phalanges of the hand, Short foot, Eyelid coloboma, ... OMIM:607597
Shprintzen-Goldberg Craniosynostosis Syndrome
Frontal bossing, Telecanthus, Arachnodactyly, Craniosynostosis, Dolichocephaly, Metatarsus adduct... OMIM:182212
Cooper-Jabs Syndrome
Frontal bossing, Camptodactyly of finger, Proximal placement of thumb, Brachycephaly, Abnormal hi... ORPHA:1488
Hallermann-Streiff Syndrome
Frontal bossing, Telecanthus, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Small hand, Brach... ORPHA:2108
Toxic Epidermal Necrolysis
Entropion, Thrombocytopenia, Weight loss, Conjunctivitis, Neutropenia, Pancreatitis, Anemia ORPHA:537
Monosomy 9P
Epicanthus, Highly arched eyebrow, Proximal placement of thumb, Abnormality of the tarsal bones, ... ORPHA:261112
Agammaglobulinemia, X-Linked
T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Neutropenia, Prostatitis, Anemia OMIM:300755
Beck-Fahrner Syndrome
Hip dysplasia, Lacrimal duct stenosis, Brachycephaly, Ptosis OMIM:618798
Sepsis In Premature Infants
Small for gestational age, Thrombocytopenia, Leukocytosis, Splenomegaly, Neutropenia, Decreased b... ORPHA:90051
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
19P13.13 Microdeletion Syndrome
Epicanthus, Sandal gap, Long fingers, Brachycephaly, Long eyelashes, Dolichocephaly, Clinodactyly... ORPHA:357001
Raine Syndrome
Death in infancy, Bowing of the long bones, Highly arched eyebrow, Brachycephaly, Plagiocephaly, ... OMIM:259775
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Cloverleaf skull, Frontal bos... ORPHA:87
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro... ORPHA:227982
Kleefstra Syndrome
Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Synophrys, Obesity, Brachycephaly, U... ORPHA:261494
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i... ORPHA:227990
Intellectual Developmental Disorder, Autosomal Dominant 66
Arachnodactyly, Brachycephaly, Plagiocephaly, Toe clinodactyly, Clinodactyly of the 5th finger OMIM:619910
Kaufman Oculocerebrofacial Syndrome
Epicanthus, Telecanthus, Congenital hip dislocation, Sparse eyebrow, Metatarsus adductus, Brachyc... OMIM:244450
Intellectual Developmental Disorder, Autosomal Dominant 54
Anhidrosis, Small for gestational age, Midface retrusion, Neutropenia OMIM:617799
Peroxisome Biogenesis Disorder 1A (Zellweger)
Epicanthus, Flat occiput, Rocker bottom foot, Adrenal hypoplasia, Metatarsus adductus, Cryptorchi... OMIM:214100
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia ORPHA:540
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Upslanted palpebral fissure, Posterior pituitary hypoplasia, Abnormality of the anterior pituitar... ORPHA:75389
Ring Chromosome 7 Syndrome
Unilateral ptosis, Epicanthus, Highly arched eyebrow, Prominent crus of helix, Bilateral ptosis, ... ORPHA:1449
Gorlin-Chaudhry-Moss Syndrome
Abnormal eyelid morphology, Brachycephaly, Upper eyelid coloboma, Abnormal metacarpal morphology,... ORPHA:2095
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia ORPHA:88
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Splenomegaly, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:308230
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Bowing of the legs, Bowing of the arm, Brachyturricephal... OMIM:613849
Congenital Myopathy 13
Telecanthus, Cryptorchidism, Brachycephaly, Blepharophimosis, Downslanted palpebral fissures, Mid... OMIM:255995
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Conjunctivitis, Neutropenia ORPHA:293173
De Barsy Syndrome
Epicanthus, Congenital hip dislocation, Cryptorchidism, Brachycephaly, Coxa vara, Failure to thri... ORPHA:2962
White-Sutton Syndrome
Obesity, Brachycephaly, Upslanted palpebral fissure, Failure to thrive, Downslanted palpebral fis... OMIM:616364
Trisomy 9P
Clinodactyly of the 5th finger, Downslanted palpebral fissures, Brachycephaly, Brachydactyly ORPHA:236
Wiedemann-Rautenstrauch Syndrome
Brachycephaly, Hypoplasia of the thymus, Parietal bossing, Genu varum, Long toe, Absent eyebrow, ... OMIM:264090
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Frontal bossing, Postaxial polydactyly, Wide anterior fontanel, Preaxial poly... OMIM:617925
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:251100
Warburg Micro Syndrome 2
Overlapping toe, Cryptorchidism, Brachycephaly, Clinodactyly of the 4th toe, Clinodactyly of the ... OMIM:614225
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Thrombocytopenia, Neutropenia OMIM:616271
Dysostosis, Stanescu Type
Bowing of the long bones, Brachycephaly, Abnormal epiphysis morphology, Massively thickened long ... ORPHA:1798
Diamond-Blackfan Anemia 7
Macrocytic anemia, Short thumb, Increased mean corpuscular volume, Triphalangeal thumb, Neutropenia OMIM:612562
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... ORPHA:436159
Loeys-Dietz Syndrome 5
Failure to thrive in infancy, Arachnodactyly, Brachycephaly, Flexion contracture of toe, Bilatera... OMIM:615582
Thauvin-Robinet-Faivre Syndrome
Epicanthus, Transient neutropenia, Bowing of the legs, Large for gestational age, Midface retrusi... OMIM:617107
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Synophrys, Premature ovarian insufficiency, 2-3 toe syndactyly ORPHA:391307
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Monocytopen... OMIM:226990
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Epicanthus, Frontal bossing, Camptodactyly of finger, Cryptorchidism... ORPHA:1606
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Immunodeficiency 91 And Hyperinflammation
Death in infancy, Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Death in child... OMIM:619644
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Rectal abscess, Conjunctivitis, Neutropenia, Failure to thrive OMIM:601495
Bare Lymphocyte Syndrome, Type Ii
Failure to thrive, Neutropenia OMIM:209920
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... OMIM:242700
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Brachycephaly, Flat occiput, Horizontal eyebrow, Thick eyebrow OMIM:618797
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Frontal bossing, Telecanthus, Camptodactyly of finger, Supernumerary nipple, Tapered finger, Brac... ORPHA:1236
Chime Syndrome
Epicanthus, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, ... ORPHA:3474
Fontaine Progeroid Syndrome
Syndactyly, Death in infancy, Absent nipple, Small for gestational age, Turricephaly, Craniosynos... OMIM:612289
Hermansky-Pudlak Syndrome
Neutropenia, Menometrorrhagia, Long eyelashes, Weight loss ORPHA:79430
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Weight loss, Abnormal testis morphology, Anemia ORPHA:54251
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Premature ovarian insufficiency, Eosinophilia, Auto... ORPHA:3261
Doors Syndrome
Frontal bossing, Epicanthus, Adrenal hyperplasia, Aplasia/Hypoplasia of the phalanges of the 2nd ... ORPHA:79500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Brachycephaly, Lambdoidal craniosynostosis, Large for gestational age OMIM:615398
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer... ORPHA:3226
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Brachycephaly, Short foo... OMIM:227330
Noonan Syndrome With Multiple Lentigines
Cryptorchidism, Brachycephaly, Decreased fertility, Spina bifida occulta, Ptosis ORPHA:500
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Saethre-Chotzen Syndrome
Brachycephaly, Partial duplication of the distal phalanx of the 3rd finger, Shallow orbits, Clino... OMIM:101400
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Hyperhidrosis, Leukopenia, Microangiopathic hemolytic anemia, ... ORPHA:2330
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Methylmalonic Acidemia With Homocystinuria Type Cblf
Failure to thrive, Neutropenia, Megaloblastic anemia ORPHA:79284
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... ORPHA:167
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Prominent fingertip pads, Thick eyebrow, Epicanthus, Tapered finger, Precocious puberty, Long fin... OMIM:619950
X-Linked Intellectual Disability, Snyder Type
Unilateral ptosis, Long toe, Arachnodactyly, Sparse eyebrow, Cryptorchidism, Synophrys, Slender t... ORPHA:3063
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating cortisol level, Brachycephaly, Femoral bowing, Decreased circulating renin ... OMIM:201750
Cerebrofaciothoracic Dysplasia
Epicanthus, Synophrys, Brachycephaly, Downslanted palpebral fissures, Midface retrusion, Thick ey... ORPHA:1394
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyebrow, Frontal bossing, Tarsal synostosis, Aplastic clavicle, Absent eyelashes, Wide ant... ORPHA:85199
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... ORPHA:158048
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Upslanted palpebral fis... OMIM:617237
Whim Syndrome
Lymphopenia, Abnormal neutrophil morphology, Parotitis, Neutropenia ORPHA:51636
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Alg9-Cdg
Frontal bossing, Telecanthus, Wide anterior fontanel, Flared metaphysis, Broad ischia, Brachyceph... ORPHA:79328
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly,... ORPHA:2072
Noonan Syndrome 14
Epicanthus, Lacrimal duct stenosis, Sparse eyebrow, Cryptorchidism, Hyperhidrosis, Clinodactyly, ... OMIM:619745
Hunter-Macdonald Syndrome
Epiphyseal dysplasia, Metatarsus adductus, 2-3 toe syndactyly, Brachycephaly, Upslanted palpebral... OMIM:611962
Cornelia De Lange Syndrome
Proximal placement of thumb, Synophrys, Brachycephaly, Clinodactyly of the 5th finger, Abnormal m... ORPHA:199
Osteogenesis Imperfecta, Type Xx
Highly arched eyebrow, Brachycephaly, Plagiocephaly, Midface retrusion, Sparse lateral eyebrow OMIM:618644
7Q11.23 Microduplication Syndrome
Craniosynostosis, Cryptorchidism, Long fingers, Obesity, Brachycephaly, Narrow palpebral fissure,... ORPHA:96121
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Frontal bossing, Epicanthus, Short metacarpal, Brachydactyly, Short metatarsal, Pseudohypoparathy... OMIM:617157
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, T lymphocytopenia, Decreased proportion of CD4-positive helper T ce... OMIM:619510
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Epicanthus, Severe B lymphocytopenia, Arachnodactyly, Overlapping toe, Blepharophimosis, Biliary ... ORPHA:83617
Biliary, Renal, Neurologic, And Skeletal Syndrome
Syndactyly, Frontal bossing, Anterior pituitary hypoplasia, Postaxial polydactyly, Splenomegaly, ... OMIM:619534
Acrofrontofacionasal Dysostosis 1
Short metacarpal, Long eyebrows, Brachycephaly, Long eyelashes, Broad thumb, S-shaped palpebral f... OMIM:201180
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Flat occiput, Preaxial hand polydactyly, Brachycephaly, ... ORPHA:2211
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Cerebrooculonasal Syndrome
Frontal bossing, Epicanthus, Sparse eyelashes, Postaxial polydactyly, Proboscis, Sparse eyebrow, ... OMIM:605627
Common Variable Immunodeficiency
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Brachy... ORPHA:1572
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Highly arched eyebrow, Craniosynostosis, Cranial hyperostosis, Brachycephaly, Genu ... ORPHA:309282
Aica-Ribosiduria
Brachycephaly ORPHA:250977
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, Th... ORPHA:391487
Ataxia-Telangiectasia
Conjunctival telangiectasia, Lymphopenia, Diabetes mellitus, Female hypogonadism, Abnormal sperma... OMIM:208900
Frank-Ter Haar Syndrome
Bowing of the long bones, Flat occiput, Metatarsus adductus, Wide anterior fontanel, Flared metap... OMIM:249420
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormal... OMIM:602450
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Frontal bossing, Severe B lymphocytopenia, Craniosynostosis, Tapered finger, Cr... OMIM:620005
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Baller-Gerold Syndrome
Brachycephaly, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of the ulna, Sagittal cranio... OMIM:218600
Kikuchi-Fujimoto Disease
Palpebral edema, Thrombocytopenia, Splenomegaly, Weight loss, Enlargement of parotid gland, Leuko... ORPHA:50918
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Failure to thrive, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Chromosome 1P36 Deletion Syndrome, Distal
Synophrys, Brachycephaly, Clinodactyly of the 5th finger, Hypothyroidism, Cryptorchidism, Wide an... OMIM:607872
Craniosynostosis And Dental Anomalies
Hallux valgus, Frontal bossing, Turricephaly, Flat occiput, Broad hallux, Sagittal craniosynostos... OMIM:614188
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Severe B lymphocytopenia, A... OMIM:102700
Frontofacionasal Dysplasia
Telecanthus, Brachycephaly, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Blepha... OMIM:229400
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Metaphyseal dysplasia, Death in infancy, Eosinophilia, Coxa valga, Narrow g... OMIM:617425
Branchioskeletogenital Syndrome
Amelia involving the lower limbs, Thickened calvaria, Telecanthus, Absent nipple, Highly arched e... ORPHA:1299
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Telecanthus, Frontal bossing, Down-sloping shoulders, Brachycephaly, Upslanted... ORPHA:1974
Angelman Syndrome
Brachycephaly, Flat occiput, Obesity OMIM:105830
Fusariosis
Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia ORPHA:228119
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Zygomycosis
Brain abscess, Diabetes mellitus, Splenic abscess, Neutropenia, Chemosis, Pancreatitis, Ptosis ORPHA:73263
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Epicanthus, Synophrys, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular ... OMIM:610442
Aica-Ribosuria Due To Atic Deficiency
Frontal bossing, Brachycephaly OMIM:608688
Achard Syndrome
Broad skull, Arachnodactyly, Brachycephaly OMIM:100700
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopeni... OMIM:613179
Congenital Disorder Of Deglycosylation 1
Anhidrosis, Small hand, Brachycephaly, Hyperhidrosis, Short foot, Decreased body weight, Midface ... OMIM:615273
Hermansky-Pudlak Syndrome 10
Splenomegaly, Neutropenia OMIM:617050
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Ayme-Gripp Syndrome
Brachydactyly, Tapered finger, Brachycephaly, Upslanted palpebral fissure, Radioulnar synostosis,... OMIM:601088
Turnpenny-Fry Syndrome
Frontal bossing, Overlapping toe, Tapered finger, Wide anterior fontanel, Long fingers, Small han... OMIM:618371
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Synophrys, Brachycephaly, Clinodactyly of the 5th finger, Prominent fingertip pads, Mesoaxial foo... OMIM:612474
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Brachycephaly, Brachydactyly OMIM:619995
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Brachydactyly, Highly arched eyebrow, Cryptorchidism, Short toe, Brachycephaly... ORPHA:1519
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Tapered finger, Splenomegaly, Brachycephaly, Plagiocephaly, Truncal obesity, Thrombocytopenia OMIM:301072
Glycogen Storage Disease Ic
Cyclic neutropenia, Xanthelasma, Delayed puberty, Chronic pancreatitis OMIM:232240
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... ORPHA:331235
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia OMIM:620365
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Autoimmune hemolyti... OMIM:243150
Primrose Syndrome
Hip contracture, Epicanthus, Diabetes mellitus, Hypergonadotropic hypogonadism, Calcification of ... OMIM:259050
Osteogenesis Imperfecta
Bowing of the long bones, Small for gestational age, Protrusio acetabuli, Fractures of the long b... ORPHA:666
Weill-Marchesani Syndrome 1
Broad skull, Brachycephaly, Shallow orbits, Broad phalanges of the hand, Broad metacarpals, Broad... OMIM:277600
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Brachycephaly, Dispro... OMIM:263520
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Peters Plus Syndrome
Frontal bossing, Toe syndactyly, Cryptorchidism, Short toe, Brachycephaly, Congenital hypothyroid... ORPHA:709
X-Linked Intellectual Disability, Armfield Type
Epicanthus, Cryptorchidism, Small hand, Brachycephaly, Short foot, Downslanted palpebral fissures... ORPHA:85276
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hallux valgus, Telecanthus, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, T... ORPHA:480880
Weill-Marchesani Syndrome 2
Short metacarpal, Broad skull, Short metatarsal, Brachycephaly, Short finger, Shallow orbits, Bro... OMIM:608328
Mandibuloacral Dysplasia Progeroid Syndrome
Frontal bossing, Sandal gap, Elevated hemoglobin A1c, Decreased fibular diameter, Sparse eyebrow,... OMIM:619127
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Neutropenia, Thrombocytopenia, Megaloblastic anemia ORPHA:79282
3-Methylglutaconic Aciduria, Type Viii
Neonatal death, Death in infancy, Failure to thrive, Neutropenia OMIM:617248
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly... OMIM:618935
Osteogenesis Imperfecta, Type Xi
Brachycephaly, Protrusio acetabuli, Coxa vara OMIM:610968
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Diabetes mellitus, Leukocytosis, Leukopenia, Increased circulating procalcitonin co... ORPHA:36238
Adenylosuccinase Deficiency
Brachycephaly OMIM:103050
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Blepharophimosis, Abnormality of the diencephalon, Camptodactyly of finger, Adducted thumb ORPHA:2570
Renpenning Syndrome 1
Epicanthus, Telecanthus, Brachycephaly, Upslanted palpebral fissure, Death in childhood, Synostos... OMIM:309500
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ... ORPHA:93260
Roberts-Sc Phocomelia Syndrome
Brachycephaly, Tetraphocomelia, Eyelid coloboma, Shallow orbits, Phocomelia, Accessory spleen, Sy... OMIM:268300
Coffin-Siris Syndrome 1
Frontal bossing, Sandal gap, Aplasia/Hypoplasia of the patella, Aplasia/Hypoplasia of the distal ... OMIM:135900
White-Sutton Syndrome
Brachycephaly, Obesity, Midface retrusion ORPHA:468678
Humeroradial Synostosis
Humeroradial synostosis, Brachycephaly OMIM:236400
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Brachycephaly, Thick eyebrow OMIM:608980
Aspartylglucosaminuria
Vacuolated lymphocytes, Brachycephaly, Neutropenia, Macroorchidism, Thickened calvaria OMIM:208400
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Diabetes... OMIM:614162
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Downslanted palpebral fissures, Brachycephaly ORPHA:2062
Elsahy-Waters Syndrome
Bilateral cryptorchidism, Synophrys, Shortening of all phalanges of fingers, Brachycephaly, Cutan... OMIM:211380
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Frontal bossing, Epicanthus, Telecanthus, Sandal gap, Dolichocephaly, Long fingers, Scaphocephaly... OMIM:620330
Oculocerebral Hypopigmentation Syndrome, Preus Type
Arachnodactyly, Abnormality of neutrophils, Abnormal hip bone morphology, Hypochromic anemia, Abn... ORPHA:2720
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Thrombocytopenia, Splenomegaly, Finger swelling, Conjunctivitis, Lymphopenia, ... OMIM:617591
Viss Syndrome
Contracture of the proximal interphalangeal joint of the 2nd toe, Ptosis, Long toe, Frontal bossi... OMIM:619472
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Telecanthus, Arachnodactyly, Cryptorchidism, Brachycephaly, Downslanted palpebral fissures, Adduc... OMIM:601776
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Symblepharon, Trichiasis, Xerostomia, Keratoconjunctivitis sicca, Conjunctivitis, Neutropenia, Ch... ORPHA:95455
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Epicanthus, Abnormal location of the eyebrow, Equinus calcaneus, Almond-shaped palpebral fissure,... ORPHA:522077
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Small for gestational age, Palpebral edema, Overlapping toe, Microcytic anemia, Leu... ORPHA:99843
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Failure to thrive in in... OMIM:617099
Syndromic Diarrhea
Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus... ORPHA:84064
Pneumocystosis
Abnormal neutrophil count, Weight loss ORPHA:723
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal death, Annular pancreas, Brachycephaly, Asplenia OMIM:265380
Igg4-Related Kidney Disease
Eosinophilia, Dacryocystitis, Abnormality of the anterior pituitary, Thyroiditis, Weight loss, Si... ORPHA:449395
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Abnormality of the endocrine system, Cryptorchidism, Precocious pub... ORPHA:438213
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... OMIM:600802
Familial Mediterranean Fever
Orchitis, Splenomegaly, Leukocytosis, Neutrophilia OMIM:249100
Charge Syndrome
Hypoparathyroidism, Hypoplasia of the ulna, Hypogonadotropic hypogonadism, Decreased response to ... OMIM:214800
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... ORPHA:35078
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Long fibula, Biparietal narrowing, Abnormal metaphysis morphology, Lymphopenia, Anemia ORPHA:935
Crimean-Congo Hemorrhagic Fever
Acute pancreatitis, Neutrophilia, Pancytopenia, Orchitis, Thrombocytopenia, Leukocytosis, Splenom... ORPHA:99827
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormal morphology of the radius, Abnormality of the diencephalon, Radial club hand ORPHA:2165
Williams Syndrome
Clinodactyly of the 5th finger, Spina bifida occulta, Abnormality of the diencephalon, Hypothyroi... ORPHA:904
Norrie Disease
Diabetes mellitus, Cachexia, Abnormality of the diencephalon, Cryptorchidism, Erectile dysfunctio... ORPHA:649

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gsx1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gsx1.

No publications found that use IMPC mice or data for Gsx1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Gsx1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gsx1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Gsx1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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