Gene Summary

Name:
tet methylcytosine dioxygenase 1
Synonyms:
2510010B09Rik,  D10Ertd17e,  Cxxc6,  BB001228

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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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.

Anti-nuclear antibody assay

Images

9 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

3 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

3 Images

X-ray

XRay Images Forepaw

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

3 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Eye Morphology

Images Slit Lamp

2 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 121 images

Human diseases caused by Tet1 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 Tet1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Schizophrenia 19
Cognitive impairment OMIM:617629
Alzheimer Disease 10
Memory impairment, Dementia OMIM:609636
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Bifid Nose
Hypertelorism ORPHA:2695
Nf1-Microdeletion syndrome
Neurofibromas, Hypertelorism DECIPHER:15
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Parietal Foramina 2
Depressed nasal bridge, Encephalocele, Hypertelorism, Wide nasal ridge OMIM:609597
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Frontal Encephalocele
Hydrocephalus, Hypertelorism, Cerebral calcification, Encephalocele, Spina bifida, Aplasia/Hypopl... ORPHA:1931
Pseudoprogeria Syndrome
Failure to thrive, Decreased body weight, Convex nasal ridge, Absent eyebrow, Narrow nasal tip, S... ORPHA:2985
Craniotelencephalic Dysplasia
Hypotelorism, Absent septum pellucidum, Optic nerve hypoplasia, Cerebellar hypoplasia, Arrhinence... OMIM:218670
Absent Eyebrows And Eyelashes With Mental Retardation
Convex nasal ridge, Absent eyebrow, Microcephaly, Short nose, Absent eyelashes, Encephalocele OMIM:200130
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Acromelic Frontonasal Dysostosis
Lipoma, Hypertelorism, Encephalocele, Choroid plexus cyst, Broad nasal tip, Bifid nose, Hypoplasi... OMIM:603671
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Small nail, Hypertelorism, Holoprosencephaly, Micrognathia, Microcephaly, Anenceph... ORPHA:1908
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Cerebral cortical atrophy, Deeply set eye, Holoprosencephaly, Micrognathia, Microcephaly, Abnorma... ORPHA:2570
Pallister-Hall-Like Syndrome
Hydrocephalus, Glioma, Hypothalamic hamartoma, Depressed nasal bridge, Micrognathia, Anterior hyp... OMIM:241800
Frontonasal Dysplasia 1
Hypertelorism, Broad nasal tip, Wide nasal bridge, Bifid nose, Bifid nasal tip, Cranium bifidum o... OMIM:136760
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Lipoma, Anencephaly, Multiple lipomas, Spina bifida occulta OMIM:182940
Craniotelencephalic Dysplasia
Hydrocephalus, Microcephaly, Arrhinencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum,... ORPHA:1528
Lissencephaly 5
Leukoencephalopathy, Hydrocephalus, Hypoplasia of the corpus callosum, Type II lissencephaly, Abn... OMIM:615191
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Impotence, Decreased serum testosterone concentration, Cryptorchidism, Small pituita... ORPHA:2232
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Hydrolethalus Syndrome 2
Hydrocephalus, Micrognathia, Anencephaly, Ventriculomegaly, Agenesis of corpus callosum OMIM:614120
Microhydranencephaly
Microcephaly, Cerebellar hypoplasia, Proptosis, Ventriculomegaly, Pachygyria, Hydranencephaly, Pr... OMIM:605013
Frontofacionasal Dysplasia
Hypertelorism, Depressed nasal ridge, Absent inner eyelashes, Dimple on nasal tip, Depressed nasa... ORPHA:1791
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Frontal encephalocele, Bifid nasal tip, Wide nose, Choanal atresia, Underdeveloped nasal alae, Hy... ORPHA:521308
Oculoauriculofrontonasal Syndrome
Hypertelorism, Micrognathia, Microcephaly, Bifid nasal tip, Wide nose, Encephalocele, Underdevelo... ORPHA:398156
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Dysgyria, Cerebellar hypoplasia, Type II lissencephaly, Abnormal cerebral white ma... ORPHA:352682
Triopia
Abnormal eyebrow morphology, Encephalocele, Hypertelorism, Midline facial cleft ORPHA:3374
Trigonocephaly 2
Hypertelorism OMIM:614485
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... OMIM:300510
Alg13-Cdg
Decreased body weight, Abnormal lateral ventricle morphology, Anteverted nares, Hypertelorism, Gl... ORPHA:324422
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Short stature, Neutropenia OMIM:616022
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Short stature, Neutropenia ORPHA:90023
Scalp Defects-Postaxial Polydactyly Syndrome
Sparse scalp hair, Encephalocele ORPHA:1003
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Micrognathia, Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Hydranencepha... OMIM:225790
Diprosopus
Abnormality of the nose, Abnormality of retinal pigmentation, Anencephaly ORPHA:1681
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Hypertelorism, Micrognathia, Microcephaly, Aplasia/Hypoplasia of the c... ORPHA:3207
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Anencephaly, Cortical dysplasia, Cerebellar hypoplasia, Type II lissencephaly, Ven... OMIM:615287
Congenital Herpes Simplex Virus Infection
Microcephaly, Hydranencephaly ORPHA:293
Acromelic Frontonasal Dysplasia
Hypoplasia of the olfactory bulb, Hypertelorism, Choroid plexus cyst, Broad nasal tip, Midline ce... ORPHA:1827
Isolated Dandy-Walker Malformation
Encephalocele, Dandy-Walker malformation, Aplasia/Hypoplasia of the corpus callosum ORPHA:217
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Hypertelorism, Alopecia, Depressed nasal bridge, Bifid nose, Agenesis of cerebellar vermis, Fine ... ORPHA:228390
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Frontonasal Dysplasia 2
Sparse hair, Depressed nasal ridge, Sparse eyebrow, Depressed nasal bridge, Depressed nasal tip, ... OMIM:613451
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Schisis Association
Small for gestational age, Microcephaly, Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Pai Syndrome
Hypertelorism, Depressed nasal bridge, Midline central nervous system lipomas, Encephalocele, Mid... ORPHA:1993
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Anophthalmia Plus Syndrome
Abnormal nasal morphology, Choanal atresia, Facial cleft, Hypertelorism, Spina bifida ORPHA:1104
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Hyperpigmented nevi, Depressed nasal ridge, Optic nerve hypoplasia, Ethmoidal encephalocele, Choa... OMIM:607597
Hartsfield Syndrome
Hypertelorism, Depressed nasal bridge, Encephalocele, Lobar holoprosencephaly, Aplasia/Hypoplasia... ORPHA:2117
Distal Monosomy 13Q
Hypertelorism, Holoprosencephaly, Microcephaly, Anencephaly, Encephalocele, Aplasia/Hypoplasia of... ORPHA:1590
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Lissencephaly 8
Microcephaly, Cerebellar hypoplasia, Polymicrogyria, Hypoplasia of the corpus callosum, Type II l... OMIM:617255
Anencephaly 2
Anencephaly, Bifid nose OMIM:619452
Lissencephaly 4
Cerebellar hypoplasia, Lissencephaly, Primary microcephaly, Simplified gyral pattern, Colpocephal... OMIM:614019
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619665
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Decreased body weight, Supernumerary tooth, Abnormal hypothal... ORPHA:314621
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Alopecia, Cleft ala nasi, Hypoplasia of the corpus callosum, Agenesis of c... OMIM:164180
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Fryns Microphthalmia Syndrome
Facial cleft, Neural tube defect OMIM:600776
Hydrolethalus
Hydrocephalus, Deeply set eye, Absent septum pellucidum, Abnormality of the sense of smell, Retro... ORPHA:2189
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Joubert Syndrome 16
Encephalocele, Hypertelorism, Dandy-Walker malformation OMIM:614465
Joubert Syndrome 14
Hydrocephalus, Deeply set eye, Hypertelorism, Prominent nasal bridge, Encephalocele, Highly arche... OMIM:614424
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Hypertelorism, Anterior encephalocele OMIM:614195
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Septopreoptic Holoprosencephaly
Perisylvian polymicrogyria, Microcephaly, Hypoplasia of the pons, Abnormal septum pellucidum morp... ORPHA:280195
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619203
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Agenesis of cerebellar vermis OMIM:213010
Frontorhiny
Basal encephalocele, Hypertelorism, Hypopituitarism, Midline nasal groove, Cranium bifidum occult... ORPHA:391474
Premature Ovarian Failure 6
Hypoplasia of the uterus, Female infertility, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Parietal Foramina 3
Encephalocele OMIM:609566
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Distal 7Q11.23 Microduplication Syndrome
Benign neoplasm of the central nervous system, Hydrocephalus, Frontal encephalocele ORPHA:261102
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum, Arrhinencephaly OMIM:300073
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Dk Phocomelia Syndrome
Encephalocele OMIM:223340
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Decreased serum testosterone concentration, Hypoplasia of the ovary, Mi... OMIM:614841
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Frontonasal Dysplasia 3
Absent eyebrow, Sparse eyelashes, Facial cleft, Hypertelorism, Underdeveloped nasal alae, Wide na... OMIM:613456
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Bulbous nose, Microretrognathia, Cerebellar hypoplasia, Choanal stenosis, Anteverted nares, Narro... OMIM:236500
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Short stature, Neutropenia OMIM:610798
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Microcephaly, Hydranencephaly, Underdeveloped nasal alae OMIM:601355
Oculocerebrocutaneous Syndrome
Hydrocephalus, Exostoses, Alopecia, Cerebellar hypoplasia, Polymicrogyria, Abnormal fingernail mo... ORPHA:1647
Chromosome 16P11.2 Deletion Syndrome, 593-Kb
Micrognathia, Hypertelorism OMIM:611913
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Cocaine Embryofetopathy
Encephalocele ORPHA:1911
Meckel Syndrome, Type 4
Hydrocephalus, Microcephaly, Anencephaly, Hypoplasia of the corpus callosum, Agenesis of cerebell... OMIM:611134
Chromosome 13Q33-Q34 Deletion Syndrome
Deeply set eye, Hypertelorism, Low hanging columella, Small for gestational age, Micrognathia, Mi... OMIM:619148
Meckel Syndrome, Type 10
Dilated fourth ventricle, Anencephaly, Cerebellar hypoplasia, Occipital encephalocele, Dandy-Walk... OMIM:614175
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Depressed nasal bridge, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Wide nose, Abno... ORPHA:488635
Meckel Syndrome, Type 8
Microcephaly, Encephalocele, Short nose, Depressed nasal ridge OMIM:613885
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Fanconi Anemia, Complementation Group G
Neutropenia, Growth delay, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Familial Hyperprolactinemia
Amenorrhea, Infertility, Oligomenorrhea, Menorrhagia, Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Congenital Hydrocephalus
Hydrocephalus, Bulbous nose, Small cerebral cortex, Abnormal cortical gyration, Lissencephaly, Ve... ORPHA:2185
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Facial cleft, Absent septum pellucidum, Anterior encephalocele, Holoprosencephaly OMIM:601357
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Thanatophoric Dysplasia Type 2
Hydrocephalus, Holoprosencephaly, Depressed nasal bridge, Proptosis, Ventriculomegaly, Encephalocele ORPHA:93274
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the... ORPHA:370959
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Meckel Syndrome 13
Micrognathia, Occipital encephalocele, Cerebellar hypoplasia OMIM:617562
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Sparse eyebrow, Sparse eyelashes, Bifid nose, Cranium bifidum occultum, Hypoplasia of the maxilla... ORPHA:306542
Polyrrhinia
Abnormality of the external nose, Lateral ventricle dilatation, Abnormal third ventricle morpholo... ORPHA:141091
Subependymal Nodular Heterotopia
Myelomeningocele, Polymicrogyria, Partial agenesis of the corpus callosum, Focal cortical dysplas... ORPHA:101030
Hypertelorism, Microtia, Facial Clefting Syndrome
Broad nasal tip, Microcephaly, Micrognathia, Bifid nose, Facial cleft, Hypertelorism OMIM:239800
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Hypertelorism, Nephroblastoma OMIM:618272
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Leopard Syndrome 1
Hypoplasia of the ovary, Micropenis, Delayed menarche, Hypospadias, Spina bifida occulta, Delayed... OMIM:151100
Leber Congenital Amaurosis
Encephalocele, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:65
Griscelli Syndrome
Abnormal eyebrow morphology, Hydrocephalus, Premature graying of hair, Silver-gray hair, Iris hyp... ORPHA:381
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Meckel Syndrome, Type 9
Occipital encephalocele OMIM:614209
Acrofacial Dysostosis, Catania Type
Microretrognathia, Microcephaly, Coarse hair, Abnormal hair pattern, Spina bifida occulta, Cariou... ORPHA:1786
Oculomaxillofacial Dysostosis
Aplasia/Hypoplasia of the eyebrow, Micrognathia, Sparse or absent eyelashes, Abnormality of the n... ORPHA:1794
Holoprosencephaly 5
Hydrocephalus, Hypotelorism, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Depres... OMIM:609637
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Recurren... OMIM:614963
Parietal Foramina 1
Encephalocele OMIM:168500
Central Precocious Puberty
Hydrocephalus, Hypothalamic hamartoma, Increased body weight, Abnormality of secondary sexual hai... ORPHA:759
Diamond-Blackfan Anemia 4
Short stature, Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Growth delay, Reticulocytopenia OMIM:612527
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Joubert Syndrome 9
Encephalocele, Ventriculomegaly OMIM:612285
Meckel Syndrome, Type 2
Encephalocele, Anencephaly, Dandy-Walker malformation, Meningocele OMIM:603194
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Deeply set eye, Pachygyria, Retrognathia, Optic nerve hypoplasia, Cerebellar hypop... OMIM:614643
Microcephaly 17, Primary, Autosomal Recessive
Failure to thrive, Bulbous nose, Hypertelorism, Microcephaly, Cerebellar hypoplasia, Ventriculome... OMIM:617090
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Short stature, Macrocytic anemia, Neutropenia, Growth delay OMIM:612563
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Failure to thrive, Abnormal basal ganglia morphology, Supernumerary nipple, Colpocephaly, Open op... ORPHA:397715
Frasier Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo... ORPHA:347
Holoprosencephaly
Hydrocephalus, Depressed nasal ridge, Depressed nasal tip, Aplasia/Hypoplasia of the cerebellum, ... ORPHA:2162
Meckel Syndrome, Type 11
Occipital encephalocele OMIM:615397
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Oligomenorrhea, Primary ame... OMIM:615300
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
49,Xxxxy Syndrome
Taurodontia, Depressed nasal ridge, Holoprosencephaly, Depressed nasal bridge, Arrhinencephaly, H... ORPHA:96264
46,Xx Gonadal Dysgenesis
Streak ovary, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypoplasia of the uterus, Secondary... ORPHA:243
Limb-Mammary Syndrome
Absent nipple, Bilateral breast hypoplasia, Primary amenorrhea, Hypohidrosis, Hypoplastic nipples... ORPHA:69085
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Supernumerary Nostril
Choanal atresia, Facial cleft, Supernumerary naris ORPHA:141096
Acrofacial Dysostosis, Weyers Type
Hypoplastic toenails, Toenail dysplasia, Advanced eruption of teeth, Abnormal fingernail morpholo... ORPHA:952
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... OMIM:194072
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Hypoplasia of the uterus, Impotence, Decreased serum testosterone concen... ORPHA:432
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... OMIM:233420
Hemochromatosis, Type 3
Amenorrhea, Impotence, Lymphopenia, Hypogonadotropic hypogonadism, Neutropenia, Anemia OMIM:604250
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Failure to thrive, Hydrocephalus, Thick eyebrow, Colpocephaly, Depressed nasal bridge, Microcepha... OMIM:619833
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Joubert Syndrome With Renal Defect
Hydrocephalus, Highly arched eyebrow, Polymicrogyria, Cerebellar vermis hypoplasia, Anteverted na... ORPHA:220497
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly, Wide nasal bridge OMIM:614870
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly OMIM:611561
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele OMIM:614416
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Joubert Syndrome
Hydrocephalus, Highly arched eyebrow, Polymicrogyria, Cerebellar vermis hypoplasia, Anteverted na... ORPHA:475
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Highly arched eyebrow, Cerebellar vermis hypoplasia, Anteverted nares, Encephaloce... ORPHA:2318
Cerebrooculonasal Syndrome
Sparse eyebrow, Sparse eyelashes, Abnormality of the nares, Facial cleft, Hypertelorism ORPHA:66625
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Dystonia 30
Diffuse cerebral atrophy, Globus pallidus hypointensity on susceptibility-weighted imaging, Hypot... OMIM:619291
Treacher-Collins Syndrome
Abnormal dental enamel morphology, Failure to thrive, Low anterior hairline, Hypertelorism, Encep... ORPHA:861
Cerebrooculonasal Syndrome
Hydrocephalus, Hypertelorism, Sparse eyebrow, Sparse eyelashes, Optic nerve hypoplasia, Hypoplasi... OMIM:605627
Trisomy 18
Abnormality of retinal pigmentation, Microretrognathia, Holoprosencephaly, Cachexia, Microcephaly... ORPHA:3380
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Hypertelorism, Depressed nasal ridge, Encephalocele, Pachygyria, Abnormal cortical gyration, Poly... ORPHA:2211
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Cerebellar hypoplasia, Polymicrogyria, Anteverted nares, Hypertelorism, Colpocephal... OMIM:618731
Mosaic Trisomy 9
Bulbous nose, Hypotelorism, Micrognathia, Microcephaly, Facial cleft, Ventriculomegaly, Hypertelo... ORPHA:99776
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Deeply set eye, Supernumerary nipple, Depressed nasal bridge, Synophrys, Hypertelorism, Interhypo... OMIM:618929
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... ORPHA:2235
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Hirsutism, Micrognathia, Microcephaly, Proptosis, Encephalocele, Wide nasal bridge ORPHA:1865
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Acrofacial Dysostosis, Rodríguez Type
Prominent nasal bridge, Aqueductal stenosis, Arrhinencephaly, Microretrognathia ORPHA:1788
Adams-Oliver Syndrome
Failure to thrive, Hydrocephalus, Sparse hair, Encephalocele, Alopecia, Absent fingernail, Hypopl... ORPHA:974
Enlarged Parietal Foramina
Myelomeningocele, Multiple exostoses, Occipital encephalocele, Encephalomalacia ORPHA:60015
Blepharocheilodontic Syndrome 1
Hypertelorism, Sparse hair, Neural tube defect, Distichiasis, Choanal atresia, High anterior hair... OMIM:119580
Joubert Syndrome With Ocular Defect
Hydrocephalus, Highly arched eyebrow, Polymicrogyria, Cerebellar vermis hypoplasia, Anteverted na... ORPHA:220493
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Coach Syndrome 1
Hypertelorism, Aplasia/Hypoplasia of the cerebellar vermis, Cerebellar vermis hypoplasia, Antever... OMIM:216360
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Hypogonadotropic hypogonadism, Secondary amenorrhea, Decreased fertility ORPHA:1643
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Folate Malabsorption, Hereditary
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia OMIM:229050
Joubert Syndrome 2
Failure to thrive, Hydrocephalus, Hypertelorism, Depressed nasal bridge, Agenesis of cerebellar v... OMIM:608091
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus, Bulbous nose, Depressed nasal bridge, Enamel hypoplasia, Abnormal cerebral white m... OMIM:600991
Ring Chromosome 13 Syndrome
Retinoblastoma, Alopecia, Depressed nasal bridge, Microcephaly, Micrognathia, Anencephaly, Abnorm... ORPHA:96176
Satoyoshi Syndrome
Amenorrhea, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Ab... ORPHA:3130
Microcephalic Primordial Dwarfism, Toriello Type
Intrauterine growth retardation, Severe short stature, Neutropenia ORPHA:2643
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Joubert Syndrome 7
Encephalocele, Abnormal corpus callosum morphology, Hypoplasia of the brainstem OMIM:611560
Mental Retardation, Buenos Aires Type
Dental malocclusion, Hydrocephalus, Failure to thrive, Fair hair, Blue irides, Microcephaly, Curl... OMIM:249630
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypertelorism, Depressed nasal bridge, Micrognathia, Hypoplasia of the corpus callosum, Lateral v... ORPHA:284417
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Isolated Arrhinia
Aplasia of the nose, Hypoplasia of the nasal bone, Aplasia/Hypoplasia of the nasal septum, Absent... ORPHA:1134
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Mycophenolate Mofetil Embryopathy
Hypoplastic toenails, Hydrocephalus, Micrognathia, Bifid nose, Facial cleft, Hypertelorism, Agene... ORPHA:268249
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Waardenburg Syndrome Type 1
White forelock, Heterochromia iridis, Thick eyebrow, Hypopigmented skin patches, White hair, Hypo... ORPHA:894
Iniencephaly
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Lissencephaly... ORPHA:63259
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Hirsutism, Micrognathia, Shallow orbits, Encephalocele OMIM:224400
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Azoospermia, Testicular microlithiasis, Micropenis, O... OMIM:228300
Craniopharyngioma
Hydrocephalus, Enlarged pituitary gland, Abnormal hypothalamus morphology, Cerebral calcification... ORPHA:54595
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Short stature, Intrauterine growth retardation, Neutropenia OMIM:617056
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Cavum septum pellucidum, Microcephaly, Cortical dysplasia, Hypoplasia... ORPHA:300573
Central Neurocytoma
Cerebral calcification, Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Micrognathia, Hypoplasia of the corpus callosum, Short nose, Long eyelashes, Propt... OMIM:618577
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty ORPHA:2229
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Thick corpus callosum, Hypoplastic toenails, Bulbous nose, Dysplastic corpus callosum, Sparse sca... ORPHA:544488
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Frontofacionasal Dysplasia
Hypertelorism, Absent inner eyelashes, Bifid nose, Short nose, Cranium bifidum occultum, Hypoplas... OMIM:229400
Pelvis-Shoulder Dysplasia
Hydrocephalus, Facial hirsutism, Micrognathia, Hydranencephaly, Spina bifida ORPHA:2839
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Intrauterine growth retardation, Neutropenia OMIM:251190
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Short stature, Neutropenia OMIM:618752
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Hypopigmentation of hair, Generalized hyperpigmentation, Short nose, Antev... ORPHA:1355
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... ORPHA:250972
Otopalatodigital Syndrome Type 2
Myelomeningocele, Failure to thrive, Hydrocephalus, Hypertelorism, Depressed nasal bridge, Microg... ORPHA:90652
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Hydrocephalus, Hypotelorism, Holoprosencephaly, Micrognathia, Micro... ORPHA:2166
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Pseudotrisomy 13 Syndrome
Hydrocephalus, Hypotelorism, Holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Polymicrogyr... OMIM:264480
Meckel Syndrome, Type 3
Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation OMIM:607361
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Microgastria-Limb Reduction Defects Association
Failure to thrive, Fusion of the left and right thalami, Arrhinencephaly, Polymicrogyria, Porence... OMIM:156810
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Hydrocephalus, Bulbous nose, Depressed nasal bridge, Prominent... ORPHA:2180
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Proptosis, Choanal atresia, Melanocytic nevus, Hypertelorism OMIM:612247
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Short stature, Neutropenia OMIM:617243
Fraser Syndrome 1
Myelomeningocele, Dental malocclusion, Hydrocephalus, Extension of hair growth on temples to late... OMIM:219000
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Encephalocele, Microcephaly, Partial absence of cerebellar vermis, Cerebellar hypo... OMIM:613150
Limb Body Wall Complex
Myelomeningocele, Hydrocephalus, Hypertelorism, Depressed nasal bridge, Short umbilical cord, Ane... ORPHA:2369
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Hypertelorism, Cerebellar hypoplasia, Prominent nose, Natal tooth, Encephaloce... OMIM:616300
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
3-Methylglutaconic Aciduria, Type Viii
Growth delay, Neutropenia OMIM:617248
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Neutropenia OMIM:613502
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Depressed nasal bridge, Anencephaly, Polymicrogyria, Cerebellar vermis hypoplasia OMIM:616546
Agammaglobulinemia 10, Autosomal Dominant
Absent circulating B cells, Transient neutropenia OMIM:619707
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Pachygyria, Cerebellar hypoplasia, Polymicrogyria, Type II liss... OMIM:253800
Meckel Syndrome 14
Microretrognathia, Holoprosencephaly, Retrognathia, Micrognathia, Anteverted nares, Hypertelorism... OMIM:619879
Meckel Syndrome
Hydrocephalus, Hypertelorism, Depressed nasal ridge, Micrognathia, Microcephaly, Anencephaly, Enc... ORPHA:564
Facial Clefting, Oblique, 1
Facial cleft OMIM:600251
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Micrognathia, Cerebellar hypoplasia, Polymic... OMIM:236670
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly, Encephalocele ORPHA:1335
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Frontal cortical atrophy, Hypoplasia of the corpus callosum, Focal T2 ... ORPHA:2822
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Meckel Syndrome, Type 1
Cerebral hypoplasia, Hydrocephalus, Hypotelorism, Micrognathia, Microcephaly, Anencephaly, Cerebe... OMIM:249000
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Neoplasm of the liver, Highly arched eyebrow, Aplasia/Hypoplasia of the cerebellum... ORPHA:1454
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Acalvaria
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Hypertelorism, Spina bifida ORPHA:945
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia OMIM:598500
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Holoprosencephaly, Anencephaly, Hypoplastic nipples, Hamartoma of tongue, Natal to... OMIM:269860
Joubert Syndrome 8
Obesity, Occipital encephalocele, Pigmentary retinopathy OMIM:612291
Vacterl/Vater Association
Occipital encephalocele, Anencephaly, Cavernous hemangioma ORPHA:887
Cerebrocostomandibular Syndrome
Myelomeningocele, Cerebral calcification, Micrognathia, Microcephaly, Hydranencephaly, Meningocel... ORPHA:1393
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Depressed nasal bridge, Microcephaly, Sparse lateral eyebrow, Colpoce... OMIM:619955
Bardet-Biedl Syndrome
Cryptorchidism, Hypoplasia of the ovary, Hypoplasia of penis, Hypogonadism ORPHA:110
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Bulbous nose, Communicating hydrocephalus, Lissencephaly, Ventriculomegaly, Simplified gyral patt... OMIM:615219
Severe X-Linked Intellectual Disability, Gustavson Type
Small for gestational age, Micrognathia, Recurrent upper respiratory tract infections, Microcepha... ORPHA:3078
Frias Syndrome
Micrognathia, Hypertelorism, Proptosis OMIM:609640
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Polycystic Ovary Syndrome 1
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries OMIM:184700
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Ab... ORPHA:280356
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ... OMIM:169400
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Cousin Syndrome
Micrognathia, Hydrocephalus, Hydranencephaly, Facial hirsutism OMIM:260660
Saul-Wilson Syndrome
Postnatal growth retardation, Short stature, Intrauterine growth retardation, Neutropenia OMIM:618150
Neuroectodermal Melanolysosomal Disease
Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Hypopigmentation of the skin, Hypopigme... ORPHA:33445
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Lateral ventricle dilatation, Thick cerebral cortex ORPHA:101071
Malan Overgrowth Syndrome
Deeply set eye, Depressed nasal bridge, Hypoplasia of the corpus callosum, Lateral ventricle dila... ORPHA:420179
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... ORPHA:91348
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Microcephaly, Hypoplasia of the corpus callosum, Lat... ORPHA:79326
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal basal ganglia morphology, Small basal ganglia, Normal pressure hydrocephalus, Hypoplasia... ORPHA:300570
Whim Syndrome 1
Neutropenia OMIM:193670
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Short nose, Ventric... OMIM:618619
Distal Monosomy 10Q
Hypoplastic toenails, Failure to thrive, Hypotelorism, Cavum septum pellucidum, Micrognathia, Mic... ORPHA:96148
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Growth delay, Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Holoprosencephaly-Caudal Dysgenesis Syndrome
Holoprosencephaly, Microcephaly, Abnormality of the diencephalon, Proptosis, Cyclopia, Hypertelorism ORPHA:2165
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, ... ORPHA:158057
Prader-Willi Syndrome Due To Translocation
Broad nasal tip, Carious teeth, Short nose, Proptosis, Deeply set eye, Retrognathia, Micrognathia... ORPHA:177907
Arachnoid Cyst
Hydrocephalus, Neoplasm, Holoprosencephaly, Enlarged fossa interpeduncularis, Encephalocele, Post... ORPHA:2356
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Knobloch Syndrome
Hydrocephalus, Lymphangioma, Depressed nasal bridge, Occipital encephalocele, Abnormal hair morph... ORPHA:1571
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Retrognathia, Micrognathia, Arrhinencephaly, Spina bifida ORPHA:3412
Atelosteogenesis, Type I
Hypertelorism, Depressed nasal bridge, Micrognathia, Short nose, Proptosis, Encephalocele OMIM:108720
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Hypopigmentation of the... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Hypopigmentation of the... ORPHA:71526
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum ORPHA:401815
Fryns Syndrome
Microretrognathia, Hypoplasia of the optic tract, Facial hirsutism, Wide nasal bridge, Arrhinence... OMIM:229850
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, Autoimmune hemo... OMIM:301078
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Holoprosencephaly 1
Hypotelorism, Alobar holoprosencephaly, Aplasia of the nose, Microcephaly, Ethmocephaly, Cerebell... OMIM:236100
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Orofaciodigital Syndrome Vi
Failure to thrive, Hypothalamic hamartoma, Broad nasal tip, Micrognathia, Cerebellar vermis hypop... OMIM:277170
Neu-Laxova Syndrome 1
Choroid plexus cyst, Micrognathia, Microcephaly, Short umbilical cord, Cerebellar hypoplasia, Hyd... OMIM:256520
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnor... ORPHA:897
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Bulbous nose, Prominent nasal tip, Retrognathia, Choroid plexus cyst, Depressed nasal tip, Abnorm... ORPHA:293725
Fanconi Anemia, Complementation Group I
Decreased body weight, Decreased response to growth hormone stimulation test, Absent septum pellu... OMIM:609053
Pallister-Hall Syndrome
Depressed nasal ridge, Hypothalamic hamartoma, Midline facial capillary hemangioma, Large for ges... ORPHA:672
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Cerebral atrophy, Small for gestational age, Basal ganglia cysts, Microce... ORPHA:79243
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Anemia, Short stature, Neutropenia OMIM:614900
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Pancytopenia, Thromb... OMIM:308240
Specific Granule Deficiency 2
Thrombocytopenia, Anemia, Absent neutrophil specific granules, Neutropenia OMIM:617475
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions, Retrognathia, Depressed nasal bridge, Bro... ORPHA:557003
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Supernumerary nipple, Microcephaly, Facial cleft, Mandibular prognathia, Hypertelorism ORPHA:1236
22Q11.2 Deletion Syndrome
Abnormal dental enamel morphology, Failure to thrive, Hydrocephalus, Bulbous nose, Micrognathia, ... ORPHA:567
Rhombencephalosynapsis
Hydrocephalus, Microretrognathia, Fusion of the left and right thalami, Agenesis of cerebellar ve... ORPHA:59315
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Secondary amenorrhea... ORPHA:3085
Hydrolethalus Syndrome 1
Micrognathia, Anencephaly, Severe hydrocephalus, Arrhinencephaly, Abnormal cortical gyration, Age... OMIM:236680
Halperin-Birk Syndrome
Failure to thrive, Micrognathia, Long eyelashes, Ventriculomegaly, Umbilical hernia, Semilobar ho... OMIM:618651
Doors Syndrome
Bulbous nose, Macrodontia of permanent maxillary central incisor, Broad nasal tip, Polymicrogyria... ORPHA:79500
Immunodeficiency 55
Lymphopenia, Short stature, Absent natural killer cells, Neutropenia, Postnatal growth retardatio... OMIM:617827
Fowler Urethral Sphincter Dysfunction Syndrome
Amenorrhea, Oligomenorrhea, Abnormality of the urethra, Menorrhagia, Polycystic ovaries, Abnormal... ORPHA:2795
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Knobloch Syndrome 1
Occipital meningocele, Bulbous nose, Cerebral atrophy, Depressed nasal bridge, Microcephaly, Poly... OMIM:267750
Alg3-Cdg
Hypopigmentation of the skin, Microcephaly, Hypoplasia of the pons, Neural tube defect, Hypoplasi... ORPHA:79321
Congenital Disorder Of Deglycosylation 2
Hypothalamic hamartoma, Micrognathia, Polymicrogyria, Partial agenesis of the corpus callosum, Ha... OMIM:619775
Yunis-Varon Syndrome
Sparse scalp hair, Hydrocephalus, Hypertelorism, Sparse eyebrow, Hypoplasia of the frontal lobes,... ORPHA:3472
Caudal Regression Syndrome
Arrhinencephaly ORPHA:3027
Bartsocas-Papas Syndrome 1
Sparse scalp hair, Absent eyebrow, Alopecia, Micrognathia, Anonychia, Alopecia totalis, Short nos... OMIM:263650
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Absent circulating B cells, B lymphocytope... OMIM:619705
Slc35A2-Cdg
Cerebral atrophy, Hypopigmentation of the skin, Microcephaly, Cortical dysplasia, Hypoplasia of t... ORPHA:356961
Coasy Protein-Associated Neurodegeneration
Abnormal corpus striatum morphology, Abnormal caudate nucleus morphology, Abnormal globus pallidu... ORPHA:397725
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:607624
Adams-Oliver Syndrome 1
Supernumerary nipple, Pachygyria, Alopecia, Microcephaly, Cortical dysplasia, Polymicrogyria, Hyp... OMIM:100300
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... OMIM:619220
Spondyloenchondrodysplasia
Dental malocclusion, Decreased response to growth hormone stimulation test, Enchondroma, Cerebral... ORPHA:1855
Familial Partial Lipodystrophy, Köbberling Type
Polycystic ovaries, Hyperinsulinemia, Pancreatitis, Diabetes mellitus ORPHA:79084
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Hydrocephalus, Abnormal eyebrow morphology, Failure to thrive, Depr... ORPHA:1106
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Aicardi-Goutières Syndrome
Multifocal cerebral white matter abnormalities, Enchondroma, Cerebral calcification, Microcephaly... ORPHA:51
X-Linked Parkinsonism-Spasticity Syndrome
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Holoprosencephaly 7
Hypoplasia of the premaxilla, Hydrocephalus, Hypotelorism, Alobar holoprosencephaly, Holoprosence... OMIM:610828
Constricting Bands, Congenital
Encephalocele, Facial cleft OMIM:217100
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Thrombocytopenia, Anemia, Neutropenia, Splenomegaly ORPHA:79312
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased circulating androgen concentration, Decreased fertility in males, Hypergonadotropic hyp... ORPHA:90796
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Hypoplasia of the pons, Abnormality of the a... OMIM:617542
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... ORPHA:35858
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Decreased serum testosterone concentration, Hyperinsulinemia, Decreased... ORPHA:3464
Waardenburg Syndrome, Type 1
Myelomeningocele, White forelock, Thick eyebrow, Blue irides, Hypertelorism, Partial albinism, Wh... OMIM:193500
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Prominent nasal tip, Cerebral atrophy, Sparse eyebrow, Cavum septum pellucidum... ORPHA:464738
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... OMIM:301082
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia OMIM:251900
Joubert Syndrome 21
Single naris, Occipital encephalocele, Hypoplasia of the corpus callosum, Hypoplasia of the brain... OMIM:615636
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Sparse scalp hair, Hypoplastic toenails, Hypertrichosis, Hypertelorism, Supernumerary nipple, Nar... ORPHA:477993
X-Linked Intellectual Disability, Wilson Type
Mandibular prognathia, Microcephaly, Lateral ventricle dilatation, Abnormal position of hair whorl ORPHA:85290
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Griscelli Syndrome Type 2
Pancytopenia, Splenomegaly, Hemophagocytosis, Neutropenia ORPHA:79477
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Go... OMIM:609734
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia, Pancytopenia, Postnatal growth... ORPHA:2169
16Q24.3 Microdeletion Syndrome
Colpocephaly, Optic nerve hypoplasia, Micrognathia, Abnormal hair pattern, Hypoplasia of the corp... ORPHA:261250
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Neoplasm, Generalized hirsutism, Ovarian neoplasm, Hypopigmentation ... ORPHA:2221
Muenke Syndrome
Hydrocephalus, Hypermelanotic macule, Hypopigmentation of hair, Proptosis, Hypertelorism, Hypopig... ORPHA:53271
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, T lymphocytope... ORPHA:572
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Growth delay, Thrombocytopenia, Normochromic anemia, Neutropenia OMIM:614857
Joubert Syndrome 39
Overweight, Cerebellar vermis hypoplasia, Occipital encephalocele OMIM:619562
Piebaldism
Heterochromia iridis, Microcephaly, Hypopigmentation of hair, Neoplasm of the skin, White eyebrow... ORPHA:2884
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
3Mc Syndrome 3
Hypertelorism, Highly arched eyebrow, Facial cleft OMIM:248340
Waardenburg Syndrome
Myelomeningocele, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigmentation of ha... ORPHA:3440
Wars2-Related Combined Oxidative Phosphorylation Defect
Leukoencephalopathy, Hypertelorism, Cerebral atrophy, Dilated fourth ventricle, Lateral ventricle... ORPHA:572798
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Blue irides, Depressed nasal bridge, Short nose, Anteverted nares, Mandibular prognath... OMIM:614613
Trichothiodystrophy 3, Photosensitive
Intrauterine growth retardation, Short stature, Lymphopenia, Neutropenia OMIM:616395
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:601859
Fraser Syndrome
Myelomeningocele, Dental malocclusion, Hypertelorism, Depressed nasal bridge, Microcephaly, Cleft... ORPHA:2052
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Propionic Acidemia
Short stature, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:606054
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Lateral ventricle dilatation ORPHA:77299
Cohen Syndrome
Leukopenia, Short stature, Delayed puberty, Neutropenia OMIM:216550
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia OMIM:619752
Schimke Immunoosseous Dysplasia
Lymphopenia, Thrombocytopenia, Pancytopenia, Disproportionate short-trunk short stature, Neutrope... OMIM:242900
Barth Syndrome
Granulocytopenia, Hypochromic microcytic anemia, Cyclic neutropenia, Neutropenia, Growth delay OMIM:302060
Cach Syndrome
Dysgyria, Cerebral atrophy, Microcephaly, T2 hypointense thalamus, Lateral ventricle dilatation ORPHA:135
X-Linked Agammaglobulinemia
Short stature, Neutropenia, Anemia, Thrombocytopenia, Recurrent cutaneous abscess formation ORPHA:47
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal cerebral white matter abnormalities, Cerebral cortical atrophy, Dysplastic corpus call... ORPHA:488627
Neonatal Lupus Erythematosus
Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia ORPHA:398124
Retinal Venous Beading
Neutropenia OMIM:180080
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Pgm3-Cdg
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... ORPHA:443811
Acute Promyelocytic Leukemia
Leukocytosis, Metrorrhagia, Leukopenia, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia ORPHA:520
Fanconi Anemia, Complementation Group A
Short stature, Hypergonadotropic hypogonadism, Thrombocytopenia, Pancytopenia, Male infertility, ... OMIM:227650
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Optic nerve hypoplasia, Microcephaly, Aplasia of the nose, Micrognathia... OMIM:301043
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Retrognathia, Optic nerve hypoplasia, Depressed nasal bridge, M... OMIM:618156
Leukoencephalopathy With Dystonia And Motor Neuropathy
Leukoencephalopathy, Abnormality of thalamus morphology, Hyposmia OMIM:613724
Cog5-Cdg
Retrognathia, Microcephaly, Cerebral white matter atrophy, Diffuse cerebral atrophy, Lateral vent... ORPHA:263487
Microgastria-Limb Reduction Defect Syndrome
Failure to thrive, Absent septum pellucidum, Arrhinencephaly, Abnormal cortical gyration, Agenesi... ORPHA:2538
Orofaciodigital Syndrome Xiv
Microretrognathia, Supernumerary tooth, Holoprosencephaly, Micrognathia, Microcephaly, Cerebellar... OMIM:615948
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Short stature, Abnormal proportion of naive CD4 T cells, Disproportionate short-trun... ORPHA:1830
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia OMIM:600351
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Cerebral cortical hemiatrophy ORPHA:306669
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Cessation of head growth, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmen... ORPHA:411515
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Ambiguous genitalia, female, Precocious puberty, Decreased ci... ORPHA:90795
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Autosomal Dominant Non-Syndromic Intellectual Disability
Leukoencephalopathy, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Abnormal ... ORPHA:178469
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Failure to thrive, Neoplasm, Cerebral cortical atrophy, Cerebral calcification... ORPHA:3322
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Polycystic ovaries, Secondary amenorrhea, Insulin-resistant diabe... OMIM:268020
Amoebiasis Due To Free-Living Amoebae
Abnormal basal ganglia morphology, Abnormal hypothalamus morphology, Hyposmia, Encephalomalacia, ... ORPHA:68
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus, Microretrognathia, Cerebral atrophy, Supernumerary tooth, Hypoth... OMIM:311200
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid... OMIM:278760
Fanconi Anemia, Complementation Group E
Short stature, Hypergonadotropic hypogonadism, Thrombocytopenia, Pancytopenia, Neutropenia, Anemi... OMIM:600901
Carney Complex, Type 1
Pituitary adenoma, Elevated circulating growth hormone concentration, Thyroid carcinoma, Hirsutis... OMIM:160980
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Ocular albinism, Generalized hypopigmentation, Abnormality of the diencephalon, Ap... ORPHA:2720
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Low hanging columella, Microcephaly, Hypop... OMIM:617260
Congenital Enterovirus Infection
Leukocytosis, Leukopenia, Abnormal macrophage morphology, Neutropenia, Anemia, Thrombocytopenia ORPHA:292
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Female infertility, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Eleva... ORPHA:572333
Combined Oxidative Phosphorylation Defect Type 39
Cerebral atrophy, Microcephaly, Corpus callosum atrophy, Cerebellar hypoplasia, Hypoplasia of the... ORPHA:565624
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Umbilical hernia, Neutropenia OMIM:614520
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Growth delay, Intrauterine gro... OMIM:612562
Short Rib-Polydactyly Syndrome
Abnormal cerebral morphology, Depressed nasal bridge, Facial cleft ORPHA:1505
3-Methylglutaconic Aciduria, Type Viia
Anemia, Anisopoikilocytosis, Neutropenia OMIM:619835
Fanconi Anemia, Complementation Group C
Short stature, Hypergonadotropic hypogonadism, Thrombocytopenia, Pancytopenia, Neutropenia, Anemi... OMIM:227645
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... ORPHA:158061
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... ORPHA:2885
Chediak-Higashi Syndrome
Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil bacteric... OMIM:214500
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Khan-Khan-Katsanis Syndrome
Failure to thrive, Micrognathia, Microcephaly, Pigmentary retinopathy, Cerebellar vermis hypoplas... OMIM:618460
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Wide anterior fontanel, Supernumerary nipple, Cavum septum pellucidum, Hypoplastic fifth toenail,... ORPHA:457279
6Q Terminal Deletion Syndrome
Failure to thrive, Low anterior hairline, Colpocephaly, Micrognathia, Cerebellar hypoplasia, Poly... ORPHA:75857
Knobloch Syndrome 2
Enamel hypoplasia, Micrognathia, Encephalocele OMIM:618458
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Rhizomelia, Neutropenia, Growth delay, Thrombocytopenia, Intrauterine growth retardation OMIM:616271
Letterer-Siwe Disease
Hepatosplenomegaly, Anemia, Thrombocytopenia, Neutropenia OMIM:246400
Dyskeratosis Congenita, Autosomal Dominant 2
Short stature, Leukopenia, Aplastic anemia, Pancytopenia, Neutropenia, Thrombocytopenia OMIM:613989
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Holoprosencephaly, Micrognathia, Agenesis of corpus callosum, Polymic... OMIM:618820
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Short stature, Leukopenia, B lymphocytopenia, Rhizomelic arm shortening, Neutropenia... ORPHA:508542
Yunis-Varon Syndrome
Absent nipple, Sparse eyebrow, Hypoplasia of the corpus callosum, Proptosis, Pachygyria, Failure ... OMIM:216340
Roberts-Sc Phocomelia Syndrome
Hydrocephalus, Midface capillary hemangioma, Hypertelorism, Sparse hair, Micrognathia, Microcepha... OMIM:268300
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:79085
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281