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Gene: Tet1 MGI:1098693

Gene Summary

Name:

tet methylcytosine dioxygenase 1

Synonyms:

2510010B09Rik, D10Ertd17e, Cxxc6, BB001228

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

No results meet the p-value threshold

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Viewing: all phenotypes

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.

Eye Morphology

Images Ophthalmoscopy

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

3 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

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DSS Histology

Images

8 Images

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Eye Morphology

Images Slit Lamp

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

3 Images

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Anti-nuclear antibody assay

Images

9 Images

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X-ray

XRay Images Forepaw

3 Images

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X-ray

XRay Images Skull Lateral Orientation

3 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Tet1^{tm1a(KOMP)Wtsi}
HOM, Male, WTSI

Tet1^{tm1a(KOMP)Wtsi}
HET, Male, WTSI

Tet1^{tm1a(KOMP)Wtsi}
HET, Female, WTSI

View all 121 images

Tet1^{tm1a(KOMP)Wtsi}
abnormal retinal pigmentation, HET, Male, WTSI

Tet1^{tm1a(KOMP)Wtsi}
cataracts, HET, Female, WTSI

Tet1^{tm1a(KOMP)Wtsi}
abnormal retinal pigmentation, HET, Male, WTSI

Tet1^{tm1a(KOMP)Wtsi}
cataracts, HET, Female, WTSI

Tet1^{tm1a(KOMP)Wtsi}
WT, Male, WTSI

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.

Human diseases associated with Tet1 (0 diseases)
Human diseases predicted to be associated with Tet1 (735 diseases)

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	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
7q11.23 duplication syndrome	Short attention span	DECIPHER:43
Presenile Dementia, Kraepelin Type	Dementia	OMIM:176600
Monoamine Oxidase A Deficiency	Cognitive impairment	ORPHA:3057
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant	Dementia, Cognitive impairment	OMIM:618564
Schizophrenia 19	Cognitive impairment	OMIM:617629
Bifid Nose	Hypertelorism	ORPHA:2695
Nf1-Microdeletion syndrome	Neurofibroma, Hypertelorism	DECIPHER:15
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Parietal Foramina 2	Encephalocele, Depressed nasal bridge, Wide nasal ridge, Hypertelorism	OMIM:609597
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ...	OMIM:614324
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Frontal Encephalocele	Encephalocele, Cerebral calcification, Spina bifida, Hypertelorism, Hydrocephalus, Aplasia/Hypopl...	ORPHA:1931
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Narrow nasal tip, Microcephaly, Absent eyelashes, Sparse eyebrow, Spars...	ORPHA:2985
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Mandibular prognathia, Abnormal fingernail morphology, Microcephaly, Hypertelorism...	ORPHA:1908
Absent Eyebrows And Eyelashes With Mental Retardation	Encephalocele, Absent eyebrow, Microcephaly, Absent eyelashes, Short nose, Convex nasal ridge	OMIM:200130
Acromelic Frontonasal Dysostosis	Encephalocele, Tubulonodular pericallosal lipoma, Ventriculomegaly, Optic nerve hypoplasia, Broad...	OMIM:603671
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Aplasia/Hypoplasia of the cerebellum, Microcephaly, Micrognathia, Aplasia/Hypoplasia of the corpu...	ORPHA:2570
Frontonasal Dysplasia 1	Pericallosal lipoma, Frontal cutaneous lipoma, Broad nasal tip, Bifid nasal tip, Hypertelorism, W...	OMIM:136760
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, H...	OMIM:617967
Neural Tube Defects, Susceptibility To	Hydrocephalus, Myelomeningocele, Anencephaly, Multiple lipomas, Lipoma, Spina bifida occulta	OMIM:182940
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Ring Chromosome Y Syndrome	Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy...	ORPHA:261529
Lissencephaly 5	Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Porencephalic cyst, Subcort...	OMIM:615191
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa...	ORPHA:2232
Microhydranencephaly	Prominent nasal bridge, Microcephaly, Hypoplasia of the brainstem, Proptosis, Cerebellar hypoplas...	OMIM:605013
Frontofacionasal Dysplasia	Encephalocele, Depressed nasal bridge, Choanal atresia, Hypertelorism, Bifid nasal tip, Brushfiel...	ORPHA:1791
Hydrolethalus Syndrome 2	Micrognathia, Hydrocephalus, Anencephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Abnormal cerebral white matter mor...	ORPHA:352682
Oculoauriculofrontonasal Syndrome	Encephalocele, Pericallosal lipoma, Wide nose, Underdeveloped nasal alae, Bifid nasal tip, Microc...	ORPHA:398156
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdeveloped nasal alae, Bifid nasa...	ORPHA:521308
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Hypotelorism, Lissenceph...	OMIM:218670
Alg13-Cdg	Abnormal lateral ventricle morphology, Anteverted nares, Hypertelorism, Decreased body weight, Gl...	ORPHA:324422
Pallister-Hall-Like Syndrome	Occipital encephalocele, Depressed nasal bridge, Glioma, Microcephaly, Micrognathia, Hydrocephalu...	OMIM:241800
Ovarian Dysgenesis 2	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea...	OMIM:300510
Unilateral Ocular Duplication	Encephalocele, Abnormal eyebrow morphology, Midline facial cleft, Hypertelorism	ORPHA:3374
Premature Ovarian Failure 5	Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas...	OMIM:611548
Acromelic Frontonasal Dysplasia	Encephalocele, Anterior pituitary hypoplasia, Midline central nervous system lipomas, Broad nasal...	ORPHA:1827
Scalp Defects-Postaxial Polydactyly Syndrome	Encephalocele, Sparse scalp hair	ORPHA:1003
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Short stature, Neutropenia	ORPHA:90023
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Diprosopus	Abnormality of retinal pigmentation, Anencephaly, Abnormality of the nose	ORPHA:1681
Frontonasal Dysplasia 2	Aplasia of the nasal bone, Cleft ala nasi, Cerebellar vermis hypoplasia, Depressed nasal ridge, S...	OMIM:613451
Schisis Association	Encephalocele, Small for gestational age, Spina bifida, Microcephaly, Anencephaly	ORPHA:63862
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the cerebellum, Microcephaly, Hypertelorism, Micrognathia, Synophrys, Wide ...	ORPHA:3207
Congenital Herpes Simplex Virus Infection	Hydranencephaly, Microcephaly	ORPHA:293
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Short stature, Neutropenia	OMIM:616022
Isolated Dandy-Walker Malformation	Encephalocele, Dandy-Walker malformation, Aplasia/Hypoplasia of the corpus callosum	ORPHA:217
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel...	ORPHA:1528
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Alopecia, Agenesis of cerebellar vermis, Depressed nasal bridge, Anteverted nares,...	ORPHA:228390
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Anencephaly 2	Anencephaly, Bifid nose	OMIM:619452
Ovarian Dysgenesis 10	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:619834
Pai Syndrome	Encephalocele, Nasal polyposis, Depressed nasal bridge, Midline central nervous system lipomas, H...	ORPHA:1993
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Lissencephaly 8	Occipital encephalocele, Ventriculomegaly, Microcephaly, Hypoplasia of the brainstem, Cerebellar ...	OMIM:617255
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Choanal atresia, Abnormal hair morphology, Depressed nasal ridge, Facial ...	OMIM:607597
Distal Deletion 13Q	Encephalocele, Microcephaly, Hypertelorism, Anencephaly, Aplasia/Hypoplasia of the corpus callosu...	ORPHA:1590
Hartsfield Syndrome	Encephalocele, Depressed nasal bridge, Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, ...	ORPHA:2117
Anophthalmia Plus Syndrome	Choanal atresia, Spina bifida, Hypertelorism, Abnormal nasal morphology, Facial cleft	ORPHA:1104
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Holoprosencephaly 5	Depressed nasal bridge, Anteverted nares, Syntelencephaly, Alobar holoprosencephaly, Microcephaly...	OMIM:609637
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim...	OMIM:617565
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Oculocerebrocutaneous Syndrome	Alopecia, Cleft ala nasi, Orbital encephalocele, Hypoplasia of the corpus callosum, Agenesis of c...	OMIM:164180
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Lissencephaly 4	Simplified gyral pattern, Wide nasal bridge, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, ...	OMIM:614019
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha...	OMIM:611134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Type II lissencephaly	OMIM:615041
Joubert Syndrome 16	Encephalocele, Dandy-Walker malformation, Hypertelorism	OMIM:614465
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly, Type II lissencephaly	ORPHA:324416
Hydrolethalus	Absent septum pellucidum, Micrognathia, Hydrocephalus, Anencephaly, Abnormality of the sense of s...	ORPHA:2189
Duplication Of The Pituitary Gland	Encephalocele, Microcephaly, Hypertelorism, Supernumerary tooth, Abnormal pituitary gland morphol...	ORPHA:314621
Distal 7Q11.23 Microduplication Syndrome	Benign neoplasm of the central nervous system, Hydrocephalus, Frontal encephalocele	ORPHA:261102
Fryns Microphthalmia Syndrome	Neural tube defect, Facial cleft	OMIM:600776
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe...	OMIM:612310
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Delayed eruption of teeth, Small for gestational age, Choanal atresia, Microcephal...	OMIM:619148
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Agenesis of cerebellar vermis	OMIM:213010
Frontorhiny	Encephalocele, Pericallosal lipoma, Hypertelorism, Hypoplasia of the maxilla, Widow's peak, Aplas...	ORPHA:391474
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Parietal Foramina 3	Encephalocele	OMIM:609566
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Microcephaly, Micrognathia, Hydrocephalus, Hypoplasia of the brainstem, Cerebel...	OMIM:225790
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar...	OMIM:614841
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Dk Phocomelia Syndrome	Encephalocele	OMIM:223340
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Microcephaly, Underdeveloped nasal alae	OMIM:601355
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Short stature, Neutropenia	OMIM:610798
Premature Ovarian Failure 21	Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ...	OMIM:620311
Septopreoptic Holoprosencephaly	Megalencephaly, Hypoplasia of the pons, Microcephaly, Perisylvian polymicrogyria, Abnormal septum...	ORPHA:280195
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Anteverted nares, Narrow nasal ridge, Bulbous nose, Hypoplasia of the brainste...	OMIM:236500
Chromosome 16P11.2 Deletion Syndrome, 593-Kb	Micrognathia, Hypertelorism	OMIM:611913
Premature Ovarian Failure 8	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
Oculocerebrocutaneous Syndrome	Alopecia, Ventriculomegaly, Abnormal fingernail morphology, Hypertelorism, Hydrocephalus, Hypopig...	ORPHA:1647
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ...	ORPHA:101030
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
Cocaine Embryofetopathy	Encephalocele	ORPHA:1911
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Dandy-Walk...	OMIM:614175
Polyrrhinia	Abnormal third ventricle morphology, Abnormal nasal bone morphology, Hypertelorism, Abnormal exte...	ORPHA:141091
Frontonasal Dysplasia 3	Absent eyebrow, Sparse eyelashes, Hypertelorism, Underdeveloped nasal alae, Wide nasal bridge, Fa...	OMIM:613456
Familial Hyperprolactinemia	Female hypogonadism, Hemorrhagic ovarian cyst, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Fanconi Anemia, Complementation Group G	Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Oliv...	ORPHA:370959
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:618841
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Joubert Syndrome 14	Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Prominent nasal bridg...	OMIM:614424
Meckel Syndrome 13	Occipital encephalocele, Cerebellar hypoplasia, Micrognathia	OMIM:617562
Thanatophoric Dysplasia Type 2	Encephalocele, Depressed nasal bridge, Hydrocephalus, Proptosis, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Microcephaly, Depressed nasal ridge, Short nose	OMIM:613885
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri...	OMIM:614129
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Premature ovarian insufficiency, Hypoplasia of the ovary	OMIM:609993
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Wide nose, Abnormal lateral ventricle morphology, Depressed nasal bridge, Hypertelorism, Cerebell...	ORPHA:488635
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Absent septum pellucidum, Facial cleft, Holoprosencephaly, Anterior encephalocele	OMIM:601357
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Sparse eyelashes, Underdeveloped nasal alae, Hypertelorism, Sparse eyebrow, ...	ORPHA:306542
Hypertelorism, Microtia, Facial Clefting Syndrome	Hypertelorism, Microcephaly, Micrognathia, Broad nasal tip, Facial cleft, Bifid nose	OMIM:239800
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:603194
Microcephaly 17, Primary, Autosomal Recessive	Hypertelorism, Bulbous nose, Low anterior hairline, Simplified gyral pattern, Microlissencephaly,...	OMIM:617090
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Leber Congenital Amaurosis	Encephalocele, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:65
Griscelli Syndrome	Encephalocele, Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, Hydroc...	ORPHA:381
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Meckel Syndrome, Type 9	Occipital encephalocele	OMIM:614209
Leopard Syndrome 1	Hypospadias, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Aplasia of the ovary, Delayed m...	OMIM:151100
Acrofacial Dysostosis, Catania Type	Microretrognathia, Abnormal hair pattern, Microcephaly, Carious teeth, Facial cleft, Coarse hair,...	ORPHA:1786
Congenital Hydrocephalus	Abnormal cortical gyration, Bulbous nose, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lis...	ORPHA:2185
Oculomaxillofacial Dysostosis	Underdeveloped nasal alae, Abnormal eyelash morphology, Abnormality of the nose, Micrognathia, Wi...	ORPHA:1794
Parietal Foramina 1	Encephalocele	OMIM:168500
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Recurrent upper respiratory tract infectio...	OMIM:614963
Joubert Syndrome 9	Encephalocele, Ventriculomegaly	OMIM:612285
Diamond-Blackfan Anemia 8	Macrocytic anemia, Short stature, Growth delay, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Failure to thrive, Cerebellar vermis hypoplasia, Depressed nasal bridge,...	ORPHA:397715
Diamond-Blackfan Anemia 4	Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia	OMIM:612527
46,Xx Gonadal Dysgenesis	Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease...	ORPHA:243
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ...	OMIM:615300
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hypertelorism, Hydrocephalus, Small pituitary gland, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly	OMIM:611561
Adams-Oliver Syndrome 2	Alopecia, Depressed nasal bridge, Microcephaly, Hypertelorism, Micrognathia, Bulbous nose, Hydroc...	OMIM:614219
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Holoprosencephaly	Synophrys, Depressed nasal ridge, Hypotelorism, Deeply set eye, Absent nares, Holoprosencephaly, ...	ORPHA:2162
Joubert Syndrome 18	Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum, Retrognathia	OMIM:614815
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Ventriculomegaly, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Hydroceph...	OMIM:614643
Limb-Mammary Syndrome	Absent nipple, Primary amenorrhea, Hypohidrosis, Bilateral breast hypoplasia, Breast aplasia, Hyp...	ORPHA:69085
Meckel Syndrome, Type 11	Occipital encephalocele	OMIM:615397
Frasier Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu...	ORPHA:347
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Normosmic Congenital Hypogonadotropic Hypogonadism	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N...	ORPHA:432
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Depressed nasal bridge, Anteverted nares, Hypertelorism, Abnormal cereb...	OMIM:613443
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Supernumerary Nostril	Supernumerary naris, Facial cleft, Choanal atresia	ORPHA:141096
Acrofacial Dysostosis, Weyers Type	Abnormal fingernail morphology, Hypoplastic toenails, Facial cleft, Nail dystrophy, Small nail, A...	ORPHA:952
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Trisomy 18	Microretrognathia, Abnormality of retinal pigmentation, Cyclopia, Choanal atresia, Spina bifida, ...	ORPHA:3380
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va...	OMIM:194072
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Central Precocious Puberty In Male	Astrocytoma, Craniopharyngioma, Pituitary microadenoma, Hydrocephalus, Abnormality of secondary s...	ORPHA:649929
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Cerebrooculonasal Syndrome	Sparse eyelashes, Hypertelorism, Sparse eyebrow, Facial cleft, Abnormal nostril morphology	ORPHA:66625
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Depressed nasal bridge, Hamartoma of tongue, Hydrocephalus, Anencep...	OMIM:616546
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Impotence, Neutropenia, Lymphopenia, Anemia, Amenorrhea	OMIM:604250
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Highly arc...	ORPHA:220497
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Micrognathia, Hydrocephalus, Synophrys, Ret...	OMIM:620156
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele	OMIM:614416
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Microcephaly, Micrognathia, Hydrocephalus, Wide nasal bridge, Proptosis, Hirsutism	ORPHA:1865
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal cortical gyration, Hypertelorism, Depressed nasal ridge, Exencephaly, Wid...	ORPHA:2211
Enlarged Parietal Foramina	Occipital encephalocele, Myelomeningocele, Encephalomalacia, Multiple exostoses	ORPHA:60015
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Highly arc...	ORPHA:475
Ring Chromosome 13 Syndrome	Alopecia, Depressed nasal bridge, Anteverted nares, Microcephaly, Hypertelorism, Micrognathia, An...	ORPHA:96176
Dystonia 30	Diffuse cerebral atrophy, Globus pallidus hypointensity on susceptibility-weighted imaging, Hypot...	OMIM:619291
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes...	OMIM:600348
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Failure to thrive, Choanal atresia, Abnormal dental enamel morp...	ORPHA:861
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Highly arc...	ORPHA:2318
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Depressed nasal bridge, Supernumerary nipple, Hypertelorism, Synophrys, Low posterior hairline, I...	OMIM:618929
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cerebellar vermis hypoplasia, Depressed nasal bridge, Failure to thrive in infancy, Hypertelorism...	ORPHA:284417
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal ...	OMIM:605627
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Pontocerebellar Hypoplasia, Type 12	Micrognathia, Cerebral atrophy, Hypoplasia of the brainstem, Lateral ventricle dilatation, Cerebe...	OMIM:618266
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Iniencephaly	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Lis...	ORPHA:63259
Mosaic Trisomy 9	Ventriculomegaly, Spina bifida, Microcephaly, Hypertelorism, Micrognathia, Bulbous nose, Facial c...	ORPHA:99776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve...	OMIM:615287
Satoyoshi Syndrome	Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of...	ORPHA:3130
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Failure to thrive, Ventriculomegaly, Depressed nasal bridge, Micro...	OMIM:619833
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries	ORPHA:1643
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Depressed nasal b...	OMIM:608091
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Pelvis-Shoulder Dysplasia	Spina bifida, Micrognathia, Hydrocephalus, Facial hirsutism, Hydranencephaly	ORPHA:2839
Adams-Oliver Syndrome	Encephalocele, Alopecia, Failure to thrive, Hydrocephalus, Porencephalic cyst, Aplastic/hypoplast...	ORPHA:974
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Highly arc...	ORPHA:220493
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Aplasia/H...	OMIM:216360
Microcephalic Primordial Dwarfism, Toriello Type	Intrauterine growth retardation, Severe short stature, Neutropenia	ORPHA:2643
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal...	ORPHA:300573
Joubert Syndrome 7	Encephalocele, Hypoplasia of the brainstem, Abnormal corpus callosum morphology	OMIM:611560
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Waardenburg Syndrome Type 1	Mandibular prognathia, Hypopigmentation of hair, White eyelashes, White eyebrow, Spina bifida, Un...	ORPHA:894
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Micrognathia, Hydrocephalus, Shallow orbits, Hirsutism	OMIM:224400
Mycophenolate Mofetil Embryopathy	Hypertelorism, Hypoplastic toenails, Micrognathia, Hydrocephalus, Facial cleft, Bifid nose, Agene...	ORPHA:268249
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:228300
Martsolf Syndrome 2	Microcephaly, Broad nasal tip, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, D...	OMIM:619420
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Blepharocheilodontic Syndrome 1	Choanal atresia, Hypertelorism, Neural tube defect, Small nail, Nail dysplasia, Sparse hair, High...	OMIM:119580
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Anteverted nares, Hypertelorism, Microcephaly, Colpocephaly, Cerebellar hypoplasia, Small nail, P...	OMIM:618731
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Hypertelorism, Micrognathia, Hydrocephalus, Wide nasal bridge, Proptosis, Long ...	OMIM:618577
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of the premaxilla, Microcephaly, Micrognathia, Hydrocephalus, Aplasia/H...	ORPHA:2166
Craniopharyngioma	Enlarged pituitary gland, Cerebral calcification, Abnormal nasal bone morphology, Neoplasm of the...	ORPHA:54595
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Limb Body Wall Complex	Encephalocele, Depressed nasal bridge, Choanal atresia, Spina bifida, Hypertelorism, Myelomeningo...	ORPHA:2369
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Intrauterine growth retardation, Short stature, Anemia, Neutropenia	OMIM:617056
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypertelorism, Hypoplasia of t...	ORPHA:1134
Cousin Syndrome	Hypertelorism, Micrognathia, Hydrocephalus, Low anterior hairline, Deeply set eye, Facial hirsuti...	OMIM:260660
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Short stature, Neutropenia	OMIM:618752
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Craniosynostosis 6	Hypertelorism, Microcephaly, Low anterior hairline, Lateral ventricle dilatation, Spina bifida oc...	OMIM:616602
Alexander Disease Type I	Cachexia, Hydrocephalus, Abnormal thalamic MRI signal intensity, Abnormal cerebral white matter m...	ORPHA:363717
Pontocerebellar Hypoplasia, Type 13	Cerebellar vermis hypoplasia, Anteverted nares, Microcephaly, Hypoplasia of the pons, Hypertelori...	OMIM:618606
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Anteverted nares, Depressed nasal ridge,...	ORPHA:1355
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly, Pachygyria, Wide nasal bridge	OMIM:614870
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Low anterior hairline, Lateral vent...	OMIM:618736
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Broad eyebrow, Highly arched eyebrow, Prominent nose, Microcephaly, Corpus callosum atrophy, Low ...	OMIM:619244
Frontofacionasal Dysplasia	Frontal cutaneous lipoma, Underdeveloped nasal alae, Hypertelorism, Bifid nose, Midline defect of...	OMIM:229400
Otopalatodigital Syndrome Type 2	Encephalocele, Depressed nasal bridge, Hypertelorism, Micrognathia, Myelomeningocele, Hydrocephal...	ORPHA:90652
Meckel Syndrome	Encephalocele, Microcephaly, Hypertelorism, Micrognathia, Hydrocephalus, Anencephaly, Depressed n...	ORPHA:564
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge,...	OMIM:617751
Fanconi Anemia, Complementation Group V	Anemia, Short stature, Thrombocytopenia, Neutropenia	OMIM:617243
Hepatic Adenomas, Familial	Maturity-onset diabetes of the young, Polycystic ovaries	OMIM:142330
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Natal tooth, Ventriculomegaly, Microcephaly, H...	OMIM:249000
Fraser Syndrome 1	Encephalocele, Absent eyebrow, Wide nose, Cleft ala nasi, Depressed nasal bridge, Abnormal cortic...	OMIM:219000
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Failure to thrive, Optic nerve hypoplasia, Highly arched eyebrow, Broad na...	OMIM:620157
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Depressed nasal bridge, Anteverted nares, Microcephaly, Hypertelorism, Retinal pigment epithelial...	OMIM:614105
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hamartoma of tongue, Hypertelorism, Hydrocephalus, Anencephaly, Hypoplastic nipples,...	OMIM:269860
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
2,4-Dienoyl-Coa Reductase Deficiency	Microcephaly, Hydrocephalus, Cerebral atrophy, Colpocephaly, Hypoplasia of the corpus callosum, F...	OMIM:616034
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly	ORPHA:1335
Pseudotrisomy 13 Syndrome	Encephalocele, Microcephaly, Hydrocephalus, Hypotelorism, Holoprosencephaly, Cerebellar hypoplasi...	OMIM:264480
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia	OMIM:616738
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Hypoplasia of the brains...	OMIM:253800
Cerebrocostomandibular Syndrome	Cerebral calcification, Spina bifida, Microcephaly, Micrognathia, Myelomeningocele, Meningocele, ...	ORPHA:1393
Vacterl/Vater Association	Occipital encephalocele, Anencephaly, Cavernous hemangioma	ORPHA:887
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Microcephaly, Broad nasal tip, Hypertelorism, Wide nasal bridge, Lateral ventricle dilatation, Sh...	OMIM:615716
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Micrognathia, Wide nasal bridge, Microcephaly	OMIM:224410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Ventriculomegaly, Microcephaly, Hydrocephalus, Partial absence of cerebellar vermi...	OMIM:613150
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypertelorism, Hypoplastic toenail...	ORPHA:544488
Crouzon Syndrome With Acanthosis Nigricans	Choanal atresia, Hypertelorism, Hydrocephalus, Melanocytic nevus, Proptosis	OMIM:612247
Central Neurocytoma	Hydrocephalus, Cerebral calcification, Abnormal lateral ventricle morphology	ORPHA:73256
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Abnormal dental enamel morpholog...	ORPHA:2180
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Microretrognathia, Natal tooth, Hamartoma of tongue, Hypertelorism, Prominent nose...	OMIM:616300
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia, Abnormal T cell morphology	OMIM:613502
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, Po...	ORPHA:250972
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Agyria, Optic nerve hypoplasia, Type II lissencephaly,...	OMIM:236670
Neu-Laxova Syndrome 1	Wide nose, Ventriculomegaly, Spina bifida, Hypertelorism, Absent eyelashes, Micrognathia, Depress...	OMIM:256520
Leukoencephalopathy With Vanishing White Matter 5	Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,...	OMIM:620315
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Anteverted nares, Micrognathia, Hypertelorism, Holopr...	OMIM:619879
Unilateral Hemispheric Polymicrogyria	Thick cerebral cortex, Cortical dysplasia, Cerebral hypoplasia, Lateral ventricle dilatation	ORPHA:101071
Bainbridge-Ropers Syndrome	Micrognathia, Synophrys, Deeply set eye, Choanal stenosis, Sparse hair, Depressed nasal bridge, A...	OMIM:615485
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation, Polymicrogyria, Anteverted nares	OMIM:300982
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista...	ORPHA:280356
Bardet-Biedl Syndrome	Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary, Hypogonadism	ORPHA:110
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Autosomal Recessive Spastic Paraplegia Type 11	Abnormal substantia nigra morphology, Overweight, Hyperintensity of cerebral white matter on MRI,...	ORPHA:2822
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Alg2-Cdg	Abnormal basal ganglia MRI signal intensity, Microcephaly, Wide nasal bridge, Lateral ventricle d...	ORPHA:79326
Whim Syndrome 1	Neutropenia	OMIM:193670
Joubert Syndrome 8	Occipital encephalocele, Pigmentary retinopathy, Obesity	OMIM:612291
Acalvaria	Spina bifida, Hypertelorism, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum	ORPHA:945
Facial Clefting, Oblique, 1	Tessier number 4 facial cleft	OMIM:600251
Frias Syndrome	Proptosis, Micrognathia, Hypertelorism	OMIM:609640
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Holoprosencephaly 1	Proboscis, Alobar holoprosencephaly, Microcephaly, Facial cleft, Hypotelorism, Aplasia of the nos...	OMIM:236100
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia	OMIM:606843
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Medial flaring of the eyebrow, Hypertelorism, Long nose, Bulbous nose, Partial agenesis of the co...	OMIM:620113
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, ...	ORPHA:1454
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Premature graying of hair, Subcortical c...	ORPHA:33445
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Growth delay, Thrombocytopenia, Anemia, Neutropenia	ORPHA:289916
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Xeroderma Pigmentosum, Complementation Group G	Defective DNA repair after ultraviolet radiation damage	OMIM:278780
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism	OMIM:613546
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Depressed nasal bridge, Reduced cerebral white matter volume, Hypertelorism, Sparse e...	OMIM:620075
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Small for gestational age, Microcephaly, Partial agenesis of the corpus callosu...	ORPHA:79243
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy...	ORPHA:71526
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebellar vermis hypoplasia, Micrognathia, Perisylvian polymicrogyria, Lateral ventricle dilatat...	OMIM:618291
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Posterior fossa cyst at the fourth ventricle, Mi...	ORPHA:2356
Holoprosencephaly-Caudal Dysgenesis Syndrome	Hypertelorism, Microcephaly, Proptosis, Holoprosencephaly, Cyclopia, Abnormality of the diencephalon	ORPHA:2165
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Atelosteogenesis, Type I	Encephalocele, Depressed nasal bridge, Hypertelorism, Micrognathia, Proptosis, Short nose	OMIM:108720
Tubulinopathy-Associated Dysgyria	Ventriculomegaly, Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Abnormality...	ORPHA:467166
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, Growth delay, B lymphocytopenia, Hemophagocytosis, Neu...	OMIM:301078
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Hypertelorism, Single naris, Hypoplasia of the brainstem,...	OMIM:615636
Dworschak-Punetha Neurodevelopmental Syndrome	Depressed nasal bridge, Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpu...	OMIM:619955
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Joubert Syndrome 3	Frontal polymicrogyria, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Anteverte...	OMIM:608629
Global Developmental Delay With Or Without Impaired Intellectual Development	Bulbous nose, Lateral ventricle dilatation, Hypotelorism	OMIM:618330
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Highly arched eyebrow, Hypertelorism, Micrognathia, Hamartoma of to...	OMIM:619775
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea, Polycysti...	ORPHA:3085
Pontocerebellar Hypoplasia, Type 1A	Neuronal loss in basal ganglia, Microcephaly, Hypoplasia of the pons, Hypoplasia of the ventral p...	OMIM:607596
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Small for gestational age, Microcephaly, Micrognathia, Recurrent upper ...	ORPHA:3078
Oculoskeletodental Syndrome	Depressed nasal bridge, Dysplastic corpus callosum, Wide nasal bridge, Retrognathia, Abnormality ...	ORPHA:557003
Rudiger Syndrome	Ovarian cyst, Micropenis, Bicornuate uterus	OMIM:268650
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cerebral white matter mor...	OMIM:617668
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Supernumerary nipple, Hypertelorism, Microcephaly, Facial cleft	ORPHA:1236
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia	OMIM:617475
Malan Overgrowth Syndrome	Depressed nasal bridge, Low posterior hairline, Deeply set eye, Hypoplasia of the brainstem, Late...	ORPHA:420179
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb...	OMIM:308240
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Aicardi Syndrome	Prominence of the premaxilla, Cerebellar vermis hypoplasia, Anteverted nares, Spina bifida, Micro...	OMIM:304050
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Prominent n...	ORPHA:177907
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum	ORPHA:401815
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Knobloch Syndrome 1	Occipital encephalocele, Depressed nasal bridge, Absent septum pellucidum, Microcephaly, Bulbous ...	OMIM:267750
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Micrognathia, Partial agenesis of the corpu...	ORPHA:300570
Rhombencephalosynapsis	Microretrognathia, Septo-optic dysplasia, Agenesis of cerebellar vermis, Anteverted nares, Hypert...	ORPHA:59315
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Subependymal cysts, Lateral ventricl...	OMIM:610015
Weiss-Kruszka Syndrome	Anteverted nares, Highly arched eyebrow, Colpocephaly, Hypoplasia of the corpus callosum, Short n...	OMIM:618619
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Hypertelorism, Underdeveloped nasa...	OMIM:263650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Pigmentary retino...	OMIM:613154
Distal Deletion 10Q	Failure to thrive, Prominent nasal bridge, Prominent nose, Microcephaly, Hypoplastic toenails, Wi...	ORPHA:96148
Alg3-Cdg	Cerebral white matter atrophy, Abnormality of the nose, Hypoplasia of the pons, Microcephaly, Neu...	ORPHA:79321
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ...	OMIM:619220
Leukoencephalopathy, Progressive, With Ovarian Failure	Progressive leukoencephalopathy, Periventricular leukomalacia, Leukoencephalopathy, Lateral ventr...	OMIM:615889
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Prominent nose, Bulbous nose, Choroid plexus cyst, Retrognathia, Depressed nasal tip, Abnormal ca...	ORPHA:293725
Developmental And Epileptic Encephalopathy 66	Cryptorchidism, Anemia, Neutropenia	OMIM:618067
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Thrombocytopenia, Anemia, Neutropenia	ORPHA:79312
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce...	OMIM:619705
Hydrolethalus Syndrome 1	Absent septum pellucidum, Abnormal cortical gyration, Micrognathia, Anencephaly, Bifid nose, Midl...	OMIM:236680
Holoprosencephaly 7	Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Synophrys, Hypotelorism, Hypop...	OMIM:610828
Coasy Protein-Associated Neurodegeneration	Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Eye of the tiger anomal...	ORPHA:397725
Knobloch Syndrome	Abnormal hair morphology, Occipital encephalocele, Hydrocephalus, Depressed nasal bridge	ORPHA:1571
Immunodeficiency 55	Absent natural killer cells, Short stature, Postnatal growth retardation, Neutropenia, Intrauteri...	OMIM:617827
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor...	ORPHA:98850
Constricting Bands, Congenital	Encephalocele, Facial cleft	OMIM:217100
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cryptorchidism, Growth delay, Normochromic anemia, Neutropenia, Thrombocytopenia	OMIM:614857
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Bulbous nose, Hydrocephalus, Simplified gyral pattern,...	OMIM:615219
Trichothiodystrophy 3, Photosensitive	Short stature, Bilateral cryptorchidism, Neutropenia, Intrauterine growth retardation, Lymphopenia	OMIM:616395
Immunodeficiency 7	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia	OMIM:615387
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Fusion of the left...	OMIM:617542
Waardenburg Syndrome, Type 1	Mandibular prognathia, White eyelashes, Partial albinism, White eyebrow, Spina bifida, Hypertelor...	OMIM:193500
Adams-Oliver Syndrome 1	Encephalocele, Alopecia, Ventriculomegaly, Supernumerary nipple, Microcephaly, Cortical dysplasia...	OMIM:100300
Joubert Syndrome 39	Overweight, Occipital encephalocele, Cerebellar vermis hypoplasia	OMIM:619562
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec...	ORPHA:90796
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea	ORPHA:2795
Immunodeficiency 102	Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De...	OMIM:301082
Griscelli Syndrome Type 2	Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia	ORPHA:79477
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea...	ORPHA:3464
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Increased mean corpuscular volume,...	ORPHA:2169
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent septum pellucidum, Decreased response to growth hormone stimulatio...	OMIM:609053
Familial Partial Lipodystrophy, Köbberling Type	Diabetes mellitus, Hyperinsulinemia, Pancreatitis, Polycystic ovaries	ORPHA:79084
Halperin-Birk Syndrome	Micrognathia, Colpocephaly, Long eyelashes, Umbilical hernia, Failure to thrive, Agenesis of corp...	OMIM:618651
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Microphthalmia-Brain Atrophy Syndrome	Corpus callosum atrophy, Diffuse cerebral atrophy, Lateral ventricle dilatation, Microcephaly	ORPHA:77299
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Prominent nasal bridge, Underdeveloped nas...	ORPHA:3440
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:616816
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Ovarian neoplasm, ...	ORPHA:2221
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Mitochondrial Complex I Deficiency, Nuclear Type 33	Intrauterine growth retardation, Neutropenia	OMIM:618253
Cach Syndrome	Microcephaly, T2 hypointense thalamus, Cerebral atrophy, Lateral ventricle dilatation, Dysgyria	ORPHA:135
Propionic Acidemia	Pancytopenia, Short stature, Anemia, Neutropenia, Thrombocytopenia	OMIM:606054
Fanconi Anemia, Complementation Group A	Male infertility, Hypergonadotropic hypogonadism, Cryptorchidism, Deficient excision of UV-induce...	OMIM:227650
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Basal ganglia calcification, Leukoencephalopathy, Cerebral atrophy, Lateral vent...	OMIM:221770
Fraser Syndrome	Encephalocele, Cleft ala nasi, Depressed nasal bridge, Abnormal hair pattern, Underdeveloped nasa...	ORPHA:2052
Muenke Syndrome	Hypopigmentation of hair, Hypermelanotic macule, Hypertelorism, Hydrocephalus, Hypopigmented skin...	ORPHA:53271
3Mc Syndrome 3	Facial cleft, Highly arched eyebrow, Hypertelorism	OMIM:248340
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Lateral ventric...	OMIM:619995
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Microcephaly, Synophrys, Piebaldism, Wi...	ORPHA:2884
Schimke Immunoosseous Dysplasia	Pancytopenia, Bilateral cryptorchidism, Thrombocytopenia, Disproportionate short-trunk short stat...	OMIM:242900
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Microcephaly, Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum, Later...	OMIM:619517
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N...	ORPHA:572
X-Linked Parkinsonism-Spasticity Syndrome	Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Estrogen Resistance	Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame...	OMIM:615363
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcep...	OMIM:618890
Spondyloenchondrodysplasia	Delayed eruption of teeth, Enchondroma, Abnormal lateral ventricle morphology, Cerebral calcifica...	ORPHA:1855
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation, Cerebral cortical hemiatrophy	ORPHA:306669
Congenital Disorder Of Glycosylation, Type Iig	Cerebellar vermis hypoplasia, Anteverted nares, Failure to thrive in infancy, Microcephaly, Hyper...	OMIM:611209
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Obesity, Cerebral atrophy, Deeply set eye, Lateral ventr...	OMIM:617296
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Sparse scalp hair, Anteverted nares, Microcephaly, Hypertelorism, Sparse e...	ORPHA:464738
Immunodeficiency 67	Liver abscess, Transient neutropenia	OMIM:607676
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:601859
Fanconi Anemia, Complementation Group E	Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Hypergonadotropic hypo...	OMIM:600901
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Insulin-resistant diabetes mellitus, Hypergonadotropic hypogonadism, Secondary amenorrhea, Polycy...	OMIM:268020
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Short stature, Anemia, Neutropenia, Thrombocytopenia	ORPHA:47
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Acute Promyelocytic Leukemia	Pancytopenia, Metrorrhagia, Thrombocytopenia, Leukocytosis, Leukopenia, Neutropenia, Anemia	ORPHA:520
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia	OMIM:619752
Barth Syndrome	Cyclic neutropenia, Hypochromic microcytic anemia, Growth delay, Granulocytopenia, Neutropenia	OMIM:302060
X-Linked Intellectual Disability, Wilson Type	Abnormal position of hair whorl, Lateral ventricle dilatation, Mandibular prognathia, Microcephaly	ORPHA:85290
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Blue irides, Obesity, Red hair, ...	OMIM:614613
Orofaciodigital Syndrome Xiv	Microretrognathia, Occipital encephalocele, Natal tooth, Cerebellar vermis hypoplasia, Hamartoma ...	OMIM:615948
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Short stature, Abnor...	ORPHA:443811
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Decreased circulating renin level, Premature thelarche, Iso...	ORPHA:90795
Cohen Syndrome	Leukopenia, Short stature, Delayed puberty, Neutropenia	OMIM:216550
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating...	ORPHA:1227
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Sparse scalp hair, Anteverted nares, Narrow nasal tip, Supernumerary nipple, Hypertelorism, Hypop...	ORPHA:477993
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Cerebral calcification, Generalized hyperpigmentation, Microcephaly, Premature...	ORPHA:3322
Schimke Immuno-Osseous Dysplasia	Short stature, Thrombocytopenia, Disproportionate short-trunk short stature, Growth delay, Decrea...	ORPHA:1830
Paganini-Miozzo Syndrome	Mandibular prognathia, Deeply set eye, Lateral ventricle dilatation	OMIM:301025
Weaver Syndrome	Deep-set nails, Mandibular prognathia, Depressed nasal bridge, Absent septum pellucidum, Thin nai...	OMIM:277590
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Short corpus callosum, Lateral ventricle dilatation	OMIM:619972
Diamond-Blackfan Anemia 11	Short stature, Anemia of inadequate production, Neutropenia	OMIM:614900
Slc35A2-Cdg	Cerebral white matter atrophy, Failure to thrive in infancy, Microcephaly, Cortical dysplasia, Ce...	ORPHA:356961
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Failure to thrive, Ag...	OMIM:620352
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my...	OMIM:160980
Xeroderma Pigmentosum, Complementation Group F	Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet...	OMIM:278760
Squalene Synthase Deficiency	Depressed nasal bridge, Optic nerve hypoplasia, Failure to thrive in infancy, Micrognathia, Abnor...	OMIM:618156
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Umbilical hernia, Anemia, Neutropenia	OMIM:614520
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Mandibular prognathia, Hypopigmentation of hair, Cessation of head growth, Obesity, Hypopigmentat...	ORPHA:411515
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys...	ORPHA:79085
Orofaciodigital Syndrome I	Microretrognathia, Dry hair, Alopecia, Abnormal cortical gyration, Hamartoma of tongue, Underdeve...	OMIM:311200
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Micrognathia, Lateral ventricle dilatation, Hypoplasia of the corpus callo...	OMIM:618914
Developmental Delay, Hypotonia, And Impaired Language	Cryptorchidism, Neutropenia	OMIM:620012
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati...	ORPHA:572333
16Q24.3 Microdeletion Syndrome	Anteverted nares, Optic nerve hypoplasia, Highly arched eyebrow, Abnormal hair pattern, Micrognat...	ORPHA:261250
Fanconi Anemia, Complementation Group C	Pancytopenia, Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Thrombocytopenia, Re...	OMIM:227645
Amoebiasis Due To Free-Living Amoebae	Abnormal basal ganglia morphology, Abnormal hypothalamus morphology, Abnormal cerebral white matt...	ORPHA:68
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Chromosome 6Q24-Q25 Deletion Syndrome	Medial flaring of the eyebrow, Probst bundles, Anteverted nares, Sparse eyelashes, Hydrocephalus,...	OMIM:612863
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Short stature, Cryptorchidism, Thrombocyto...	OMIM:617052
Diamond-Blackfan Anemia 7	Macrocytic anemia, Growth delay, Increased mean corpuscular volume, Neutropenia, Intrauterine gro...	OMIM:612562
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Failure to thrive, Depressed nasal bridge, Hypertelorism, Overweight, Hydrocephalus, Lateral vent...	OMIM:619575
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypertelorism, Wide nasal bridge, Cerebra...	ORPHA:572798
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Short stature, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:613989
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Macrophage Activation Syndrome	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc...	ORPHA:158061
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor...	ORPHA:90301
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphopenia, Neutropenia	OMIM:614868
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:292
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation, Diffuse white matter abnormalities, Hypoplasia of the corpus callos...	ORPHA:208447
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation, Micrognathia, Multifocal cerebral white matter ...	OMIM:600721
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Growth delay, Leukopenia, Neutropenia, Intrauterine growth retardation, Thrombocytopenia	OMIM:616271
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, White hair, Ocular albinism, Aplasia/Hypoplasia of the cerebellum, Generalized hyp...	ORPHA:2720
Orofaciodigital Syndrome Vi	Failure to thrive, Cerebellar vermis hypoplasia, Hamartoma of tongue, Broad nasal tip, Hypertelor...	OMIM:277170
Knobloch Syndrome 2	Encephalocele, Enamel hypoplasia, Micrognathia	OMIM:618458
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol...	OMIM:604367
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Failure to thrive in...	ORPHA:488627
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni...	OMIM:214500
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Failure to thrive, Cerebellar vermis hypoplasia, Small for gestational ...	OMIM:619869
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Ventriculomegaly, Microcephaly, Carious teeth, Overweight, Widow's pea...	OMIM:619229
Cog5-Cdg	Diffuse cerebral atrophy, Cerebral white matter atrophy, Microcephaly, Prominent nose, Wide nasal...	ORPHA:263487
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Short stature, Reduction of neutrophil motility	OMIM:266265
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:251000
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr...	ORPHA:2686
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Microcephaly, Micrognath...	OMIM:301043
Pmm2-Cdg	Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Elevated circul...	ORPHA:79318
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys...	ORPHA:435651
Pagod Syndrome	Encephalocele, Meningocele, Spina bifida, Microcephaly	ORPHA:991
Noonan Syndrome 14	Curly hair, Prominent nasal bridge, Hypertelorism, Sparse eyebrow, Low posterior hairline, Promin...	OMIM:619745
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short stature, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm shortening, B lymp...	ORPHA:508542
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Methylmalonic Acidemia With Homocystinuria Type Cblf	Growth delay, Intrauterine growth retardation, Neutropenia, Megaloblastic anemia	ORPHA:79284
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
3-Methylglutaconic Aciduria Type 7	Growth delay, Infection associated neutropenia, Neutropenia	ORPHA:445038
Peroxisome Biogenesis Disorder 5A (Zellweger)	Failure to thrive, Small for gestational age, Hypertelorism, Brushfield spots, Wide anterior font...	OMIM:614866
Saul-Wilson Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Short stature, Neutropenia	OMIM:618150
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Combined Oxidative Phosphorylation Defect Type 39	Microcephaly, Corpus callosum atrophy, Deep white matter hypodensities, Cerebral atrophy, Abnorma...	ORPHA:565624
Poland Syndrome	Encephalocele, Microcephaly, Retinal hamartoma, Low posterior hairline, Acute leukemia, Neoplasm ...	ORPHA:2911
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Microcephaly, Colpocephaly, Hypoplasia of ...	OMIM:617260
Immunodeficiency, Common Variable, 1	Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:607594
Felty Syndrome	Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia	ORPHA:47612
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Absent pubertal gr...	OMIM:250250
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Small for gestational age, Microcephaly	OMIM:619278
Roberts-Sc Phocomelia Syndrome	Midface capillary hemangioma, Underdeveloped nasal alae, Microcephaly, Hypertelorism, Hydrocephal...	OMIM:268300
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypertelorism, Wide nasal bridge, Depress...	OMIM:619306
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Annular pancreas, Defic...	OMIM:227646
Lipe-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys...	ORPHA:435660
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism, Erythroid hypoplasia, Thrombocyt...	OMIM:612541
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Prominent nose, Micrognathia, Partial agenesis of the corpus callos...	OMIM:210710
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia	OMIM:275350
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Short stature, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:277380
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Micrognathia, Abnormal nasal mor...	ORPHA:404440
Autosomal Agammaglobulinemia	Neutropenia	ORPHA:33110
Congenital Factor Vii Deficiency	Ovarian cyst, Menorrhagia	ORPHA:327
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Neurofibromatosis, Type I	Inguinal freckling, Astrocytoma, Spina bifida, Hypertelorism, Aqueductal stenosis, Rhabdomyosarco...	OMIM:162200
Poikiloderma With Neutropenia	Short stature, Splenomegaly, Growth delay, Leukopenia, Neutropenia	OMIM:604173
Wolcott-Rallison Syndrome	Short stature, Growth delay, Iron deficiency anemia, Lymphocytosis, Neutropenia	ORPHA:1667
Glutaric Acidemia I	Hydrocephalus, Failure to thrive, Lateral ventricle dilatation	OMIM:231670
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Absent septum pellucidum, Hypertelorism, Micrognathia, Dysplastic corp...	OMIM:618820
6Q Terminal Deletion Syndrome	Failure to thrive, Highly arched eyebrow, Hypertelorism, Micrognathia, Low anterior hairline, Obe...	ORPHA:75857
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
De Sanctis-Cacchione Syndrome	Bilateral cryptorchidism, Defective DNA repair after ultraviolet radiation damage, Gonadal hypopl...	OMIM:278800
Khan-Khan-Katsanis Syndrome	Cerebellar vermis hypoplasia, Trichiasis, Highly arched eyebrow, Microcephaly, Micrognathia, Pigm...	OMIM:618460
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Short stature, Persistence of hemoglobin F, Anemia, Neutrop...	OMIM:260400
Familial Hemophagocytic Lymphohistiocytosis	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	ORPHA:540
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Supernumerary nipple, Wide anterior fontanel, Abnormal cerebral white matter morphology, Lateral ...	ORPHA:457279
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Prominent nasal bridge, Highly arched eyebrow, Broad nasal tip, Hyp...	ORPHA:2754
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Microcephaly, Underdeveloped nasal alae, Micrognathia, Lateral ventricle dil...	OMIM:614098
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Giant Axonal Neuropathy 1, Autosomal Recessive	Curly hair, Lateral ventricle dilatation	OMIM:256850
Aspergillosis	Eosinophilia, Neutropenia	ORPHA:1163
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation, Secondary microcephaly, Thin corpus callosum	OMIM:617854
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Intrauterine growth retardation, Short stature, Neutropenia	OMIM:618005
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251110
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Alopecia, Small for gestational age, Microcephaly, Micrognathia, Dental...	ORPHA:2959
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Depressed nasal bridge, Wide nasal bridge, Lateral ventricle dilatation, Small pituitary gland, H...	OMIM:619479
Schinzel-Giedion Syndrome	Micrognathia, Choanal stenosis, Shallow orbits, Hepatoblastoma, Myeloid leukemia, Hypertelorism, ...	ORPHA:798
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Immunodeficiency 23	Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia	OMIM:615816
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Mandibular prognathia, Failure to thrive, Cerebellar vermis hypoplasia, Highly arched eyebrow, Na...	OMIM:620083
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Small for gestational age, Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Primary ...	OMIM:619847
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:617303
Necrotizing Enterocolitis	Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:391673
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro...	ORPHA:158048
Autoinflammatory Disease, Systemic, X-Linked	Neutropenia, B lymphocytopenia, Hepatosplenomegaly	OMIM:301081
Vater/Vacterl Association	Occipital encephalocele, Abnormal nasopharynx morphology, Choanal atresia, Spina bifida, Patent u...	OMIM:192350
Joubert Syndrome 5	Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar vermis	OMIM:610188
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Cohen Syndrome	Short stature, Cryptorchidism, Neutropenia, Delayed puberty, Intrauterine growth retardation	ORPHA:193
Pseudo-Torch Syndrome 2	Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymi...	OMIM:617397
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Depressed nasal bridge, Anteverted nares, Absent septum pellucidum, Microcephaly, Hypertelorism, ...	OMIM:300868
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Sparse axillary hair, Sparse pub...	OMIM:181270
Obesity And Hypopigmentation	Red hair, Obesity	OMIM:620195
Mosaic Trisomy 1	Microretrognathia, Cerebellar vermis hypoplasia, Depressed nasal bridge, Hypoplastic thumbnail, W...	ORPHA:1692
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Neutropenia in presence ...	OMIM:615952
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Cerebral white matter atrophy, Anteverted nares, Depressed nasal bridge, P...	ORPHA:435638
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Wide nose, Ventriculomegaly, Depressed nasal bridge, Micrognathia, Facial cleft, Cerebellar hypop...	ORPHA:93271
Xfe Progeroid Syndrome	Premature ovarian insufficiency, Defective DNA repair after ultraviolet radiation damage	OMIM:610965
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg...	OMIM:608233
Neurodevelopmental Disorder With Language Delay And Seizures	Diffuse cerebral atrophy, Thin corpus callosum, Hypothalamic hamartoma	OMIM:619908
Trichothiodystrophy	Umbilical hernia, Gonadal dysgenesis, Defective DNA repair after ultraviolet radiation damage, Cr...	ORPHA:33364
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go...	OMIM:609734
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Hermansky-Pudlak Syndrome 3	Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Growth delay, Neutropenia	OMIM:615471
Koolen-De Vries Syndrome	Hypopigmentation of hair, Prominent nasal bridge, Abnormal dental enamel morphology, Underdevelop...	ORPHA:96169
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia	OMIM:308230
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth, Hyperpigmented streaks, Lateral ventricle dilatation, Failure ...	OMIM:300952
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt...	ORPHA:167
Shwachman-Diamond Syndrome 2	Normocytic anemia, Short stature, Thrombocytopenia, Neutropenia	OMIM:617941
Smith-Lemli-Opitz Syndrome	Microretrognathia, Diffuse cerebral atrophy, Failure to thrive, Depressed nasal bridge, Anteverte...	OMIM:270400
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Lateral ventricle dilatation,...	ORPHA:2148
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Proboscis, Microcephaly, Hydrocephalus, De...	ORPHA:220386
Methylmalonic Aciduria, Cbla Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251100
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Proboscis, Microcephaly, Hydrocephalus, De...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Proboscis, Microcephaly, Hydrocephalus, De...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Proboscis, Microcephaly, Hydrocephalus, De...	ORPHA:93924
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Basal...	ORPHA:79434
Diamond-Blackfan Anemia	Acute myeloid leukemia, Short stature, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytop...	ORPHA:124
Cowden Syndrome 6	Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Va...	OMIM:615109
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor...	ORPHA:562
Spondyloenchondrodysplasia With Immune Dysregulation	Short stature, Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphopenia	OMIM:607944
Rothmund-Thomson Syndrome Type 1	Premature ovarian insufficiency, Aplastic anemia, Short stature, Cryptorchidism, Growth delay, Hy...	ORPHA:221008
Leigh Syndrome	Growth delay, Intrauterine growth retardation, Anemia, Neutropenia	ORPHA:506
Aicardi-Goutieres Syndrome 9	Cerebral calcification, Microcephaly, Basal ganglia calcification, Diffuse leukoencephalopathy, C...	OMIM:619487
Sepsis In Premature Infants	Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia	ORPHA:90051
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual...	ORPHA:906
Helsmoortel-Van Der Aa Syndrome	Anteverted nares, Decreased response to growth hormone stimulation test, Broad nasal tip, Hyperte...	OMIM:615873
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Neutropenia, Microcytic anemia	OMIM:251900
Cowden Syndrome 5	Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go...	OMIM:615108
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Natal tooth, Abnormal lateral ventricle morphology, Highly arched eyebrow, Hypertelorism, Trichia...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Natal tooth, Abnormal lateral ventricle morphology, Highly arched eyebrow, Hypertelorism, Trichia...	ORPHA:353277
Sim1-Related Prader-Willi-Like Syndrome	Narrow nasal bridge, Hypopigmentation of hair, Obesity, Abdominal obesity, Small pituitary gland,...	ORPHA:398079
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Hypopigmentation of hair, Cessation of head growth, Obesity, Secondary mic...	ORPHA:411511
Hartsfield Syndrome	Wide nose, Alobar holoprosencephaly, Microcephaly, Hypertelorism, Gonadotropin deficiency, Lobar ...	OMIM:615465
Rothmund-Thomson Syndrome	Aplastic anemia, Short stature, Infertility, Neutropenia, Leukemia, Anemia	ORPHA:2909
Gabriele-De Vries Syndrome	Micrognathia, Sparse eyebrow, Broad nasal tip, Cortical dysplasia, Lateral ventricle dilatation, ...	OMIM:617557
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ...	ORPHA:64739
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Bare Lymphocyte Syndrome, Type Ii	Neutropenia	OMIM:209920
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Ermine Phenotype	Hypopigmentation of hair, Microcephaly, Abnormality of the nose, Ocular albinism, Hypopigmented s...	ORPHA:999
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia in presence o...	ORPHA:37042
Cowden Syndrome 1	Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,...	OMIM:158350
Hermansky-Pudlak Syndrome 10	Splenomegaly, Neutropenia	OMIM:617050
Diamond-Blackfan Anemia 1	Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Reticulocytopenia, Persistence o...	OMIM:105650
Vici Syndrome	Postnatal growth retardation, Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of...	OMIM:242840
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Hypoplastic...	OMIM:557000
Alg9-Cdg	Hypoplastic nipples, Hypoplasia of the ovary, Bicornuate uterus	ORPHA:79328
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Micropenis, Hypoplasia of the ovary, Decreased testicular size	OMIM:619321
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	ORPHA:436159
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Simplified gyral pattern, Deeply set eye, Cerebellar hemisphere hypopl...	ORPHA:500150
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Rectal abscess, Neutropenia	OMIM:601495
Familial Adenomatous Polyposis 4	Ovarian cyst, Uterine leiomyoma, Thyroid adenoma	OMIM:617100
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Microcephaly, Hydrocephalus, Pigmentary retinopathy, Colpocephaly, Agen...	OMIM:309801
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Hypopigmentation of hair, Cessation of head growth, Secondary microcephaly...	ORPHA:98795
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Growth delay, Neutropenia, Intrauterine growth retardation, Thrombocytopenia	ORPHA:79282
Fusariosis	Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia	ORPHA:228119
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Hypopigmentation of hair, Cessation of head growth, Obesity, Secondary mic...	ORPHA:98794
Glycogen Storage Disease Ib	Splenomegaly, Short stature, Delayed puberty, Neutropenia	OMIM:232220
Agammaglobulinemia, X-Linked	T lymphocytopenia, B lymphocytopenia, Neutropenia, Prostatitis, Anemia	OMIM:300755
Pallister-Hall Syndrome	Natal tooth, Depressed nasal bridge, Anteverted nares, Decreased response to growth hormone stimu...	OMIM:146510
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Short stature, Cryptorchidism, Growth delay, Neutropenia, Leukemia, Anemia	ORPHA:221016
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin, Hypertelorism	OMIM:618541
Pediatric-Onset Graves Disease	Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Intrauterin...	ORPHA:525731
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Hydranencephaly	Ventriculomegaly, Optic nerve hypoplasia, Thalamic edema, Hypotelorism, Cerebral cortical atrophy...	ORPHA:2177
Chromosome 1P36 Deletion Syndrome, Distal	Depressed nasal bridge, Microcephaly, Hypertelorism, Wide anterior fontanel, Hydrocephalus, Polym...	OMIM:607872
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of the skin, Hypopigmentation of hair, Small for gestational age, Decreased resp...	ORPHA:98754
Intellectual Developmental Disorder, Autosomal Dominant 54	Growth delay, Short stature, Neutropenia	OMIM:617799
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Cartilage-Hair Hypoplasia	Rhizomelia, Spinal dysraphism, Disproportionate short-limb short stature, Neutropenia, Anemia	ORPHA:175
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormal testis morphology, Anemia	ORPHA:54251
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Proptosis, Lateral ventricle dilatation	OMIM:612301
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of the skin, Hypopigmentation of hair, Small for gestational age, Decreased resp...	ORPHA:98793
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Basal cell carcinoma, Squamous cell carcinom...	ORPHA:79431
Magel2-Related Prader-Willi-Like Syndrome	Narrow nasal bridge, Hypopigmentation of hair, Increased body weight, Abdominal obesity, Small pi...	ORPHA:398069
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of the skin, Hypopigmentation of hair, Small for gestational age, Decreased resp...	ORPHA:177904
Prader-Willi Syndrome	Narrow nasal bridge, Hypopigmentation of hair, Failure to thrive in infancy, Decreased response t...	OMIM:176270
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies, Cerebral cortical atrophy	OMIM:607485
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of the skin, Hypopigmentation of hair, Small for gestational age, Decreased resp...	ORPHA:177901
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Hypopigmentation of hair, Anteverted nares, Prominent nasal bridge, Hypertelorism, Micr...	ORPHA:1974
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Short stature, Chronic neutropenia, Irregular menstruation, Growth delay, Menorrhagia, Delayed pu...	ORPHA:79259
Craniofacial Microsomia 1	Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Branchial anomal...	OMIM:164210
Prader-Willi Syndrome	Narrow nasal bridge, Hypopigmentation of hair, Decreased response to growth hormone stimulation t...	ORPHA:739
Xeroderma Pigmentosum, Complementation Group E	Defective DNA repair after ultraviolet radiation damage	OMIM:278740
Familial Acute Necrotizing Encephalopathy	Abnormal putamen morphology, Abnormal thalamus morphology, Cerebral edema	ORPHA:88619
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	OMIM:613179
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Epistaxis, Abnormal dental enamel morphology, Ocular ...	ORPHA:79430
Whim Syndrome	Lymphopenia, Abnormal neutrophil morphology, Neutropenia	ORPHA:51636
Pearson Syndrome	Reticulocytosis, Pancytopenia, Postnatal growth retardation, Splenomegaly, Anemia, Growth delay, ...	ORPHA:699
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Rhizomelia, Disproportionate short-limb short stature, Neutropenia	OMIM:271510
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Hypopigmentation of hair, Hypopigmented skin patches, Taurodontia, Mul...	ORPHA:3214
Genitopatellar Syndrome	Delayed eruption of teeth, Sparse scalp hair, Wide nose, Prominent nasal bridge, Prominent nose, ...	OMIM:606170
Xeroderma Pigmentosum, Complementation Group C	Defective DNA repair after ultraviolet radiation damage	OMIM:278720
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Small for gestational age, Hepatoblastoma, Hypertelorism,...	ORPHA:84064
Toxic Epidermal Necrolysis	Thrombocytopenia, Anemia, Neutropenia	ORPHA:537
Panhypophysitis	Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz...	ORPHA:95513
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Premature ovarian insufficiency, Eosinophilia, Auto...	ORPHA:3261
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Microcephaly, Wide nasal bridge, Cerebral atrophy, Lateral ventricle dilat...	OMIM:300896
X-Linked Intellectual Disability, Nascimento Type	Cryptorchidism, Recurrent cutaneous abscess formation, Neutropenia	ORPHA:163956
Xeroderma Pigmentosum, Complementation Group A	Defective DNA repair after ultraviolet radiation damage	OMIM:278700
Degcags Syndrome	Prominent nose, Micrognathia, Synophrys, Low anterior hairline, Hypotelorism, Abnormality of skin...	OMIM:619488
Adenohypophysitis	Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz...	ORPHA:95512
Pallister-Hall Syndrome	Large for gestational age, Gonadotropin deficiency, Depressed nasal ridge, Holoprosencephaly, Mic...	ORPHA:672
Xeroderma Pigmentosum, Complementation Group D	Defective DNA repair after ultraviolet radiation damage	OMIM:278730
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me...	OMIM:203300
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Anteverted nares, Choanal atresia, Abnormal dental enamel morphology, M...	ORPHA:818
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Depressed nasal bridge, Anteverted nares, Microcephaly, Ocular albinism...	ORPHA:2719
Carney Complex	Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma...	ORPHA:1359
Kabuki Syndrome 1	Highly arched eyebrow, Microcephaly, Sparse eyebrow, Micrognathia, Hydrocephalus, Prominent eyela...	OMIM:147920
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Microcephaly, Lateral ventricle dilatation, Short umbilical cord, Hypoplasia of the corpus callos...	OMIM:618367
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Neutropenia in presence ...	ORPHA:391487
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm	OMIM:175200
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o...	ORPHA:331235
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly	OMIM:601374
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst	ORPHA:454840
Kikuchi-Fujimoto Disease	Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia	ORPHA:50918
Japanese Encephalitis	Abnormal substantia nigra morphology, Abnormal caudate nucleus morphology, Focal T2 hyperintense ...	ORPHA:79139
3-Methylglutaconic Aciduria, Type Viii	Growth delay, Neutropenia	OMIM:617248
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Spina bifida occulta, Chronic neutropenia	ORPHA:500095
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni...	OMIM:201750
Zygomycosis	Brain abscess, Splenic abscess, Neutropenia	ORPHA:73263
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hypersplenism, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome...	ORPHA:228426
Glycogen Storage Disease Ic	Cyclic neutropenia, Delayed puberty	OMIM:232240
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Cerebellar vermis hypoplasia, Large basal ganglia, Deeply set eye, Agenesi...	ORPHA:261537
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pachygyria, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Hamartoma of tongue	OMIM:263520
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Cerebellar vermis hypoplasia, Large basal ganglia, Deeply set eye, Agenesi...	ORPHA:261552
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Prominent nasal bridge, Underdeveloped nas...	ORPHA:163746
Biliary, Renal, Neurologic, And Skeletal Syndrome	Depressed nasal bridge, Anteverted nares, Anterior pituitary hypoplasia, Hypertelorism, Aqueducta...	OMIM:619534
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Anterior pituitary hypoplasia, Microcephaly, Hypoplasia of the corpus cal...	OMIM:206900
Sponastrime Dysplasia	Intrauterine growth retardation, Rhizomelia, Disproportionate short-limb short stature, Neutropenia	ORPHA:93357
Aspartylglucosaminuria	Macroorchidism, Vacuolated lymphocytes, Short stature, Neutropenia	OMIM:208400
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia	OMIM:617107
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Norrie Disease	Narrow nasal bridge, Failure to thrive, Cachexia, Microcephaly, Hypotelorism, Deeply set eye, Apl...	ORPHA:649
Choreoacanthocytosis	Caudate atrophy, Temporomandibular joint crepitus, Abnormal putamen morphology, Weight loss, Late...	ORPHA:2388
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anemia, Neutropenia	ORPHA:95455
Brittle Cornea Syndrome	Abnormality of hair pigmentation	ORPHA:90354
Williams Syndrome	Abnormal fingernail morphology, Abnormal dental enamel morphology, Failure to thrive in infancy, ...	ORPHA:904

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 Tet1

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 Tet1.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Tet1^{tm1a(KOMP)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Tet1^{tm1a(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Tet1^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Tet1^{tm1a(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Tet1^{tm1a(KOMP)Wtsi}	PMC5827107

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Tet1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Tet1^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tet1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Tet1 MGI:1098693

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

X-ray

X-ray

DSS Histology

Eye Morphology

X-ray

Anti-nuclear antibody assay

X-ray

X-ray

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Tet1 mutations

Histopathology

IMPC related publications

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