Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

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.

X-ray

XRay Images Skull Lateral Orientation

3 Images

View images

DSS Histology

Images

8 Images

View images

Anti-nuclear antibody assay

Images

9 Images

View images

Eye Morphology

Images Slit Lamp

2 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

3 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

View images

X-ray

XRay Images Forepaw

3 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

3 Images

View images

Eye Morphology

Images Ophthalmoscopy

2 Images

View images

Ear epidermis immunophenotyping

Images

12 Images

View images

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 (759 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	Depressed nasal bridge, Encephalocele, Wide nasal ridge, Hypertelorism	OMIM:609597
Aminopterin/Methotrexate Embryofetopathy	Wide nasal bridge, Mandibular prognathia, Spinal dysraphism, Proptosis, Small nail, Aplasia/Hypop...	ORPHA:1908
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate...	OMIM:614324
Chromosome 16P11.2 Deletion Syndrome, 593-Kb	Micrognathia, Hypertelorism	OMIM:611913
Frontal Encephalocele	Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Encephalocele, Hydrocephalus, ...	ORPHA:1931
Partial Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Increased serum estradiol, ...	ORPHA:90797
Pseudoprogeria Syndrome	Cranium bifidum occultum, Alopecia, Sparse eyebrow, Failure to thrive, Narrow nasal tip, Decrease...	ORPHA:2985
Frontonasal Dysplasia 1	Wide nasal bridge, Cranium bifidum occultum, Bifid nasal tip, Broad nasal tip, Hypoplasia of the ...	OMIM:136760
Absent Eyebrows And Eyelashes With Impaired Intellectual Development	Encephalocele, Absent eyelashes, Microcephaly, Absent eyebrow, Convex nasal ridge, Short nose	OMIM:200130
Diprosopus	Abnormality of the nose, Abnormality of retinal pigmentation, Anencephaly, Non-midline cleft of t...	ORPHA:1681
Anencephaly 2	Bifid nose, Cleft maxillary alveolar ridge, Anencephaly, Median cleft palate	OMIM:619452
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Hydrolethalus Syndrome 2	Ventriculomegaly, Micrognathia, Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Cleft pa...	OMIM:614120
Frontofacionasal Dysplasia	Tessier cleft, Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, A...	ORPHA:1791
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Cerebral cortical atrophy, Hydranencephaly, Aplasia/Hypoplasia of the corpus callosum, Micrognath...	ORPHA:2570
Oculoauriculofrontonasal Syndrome	Bifid nasal tip, Underdeveloped nasal alae, Micrognathia, Encephalocele, Pericallosal lipoma, Mic...	ORPHA:398156
Schisis Association	Unilateral cleft lip, Encephalocele, Microcephaly, Spina bifida, Anencephaly, Small for gestation...	ORPHA:63862
Isolated Dandy-Walker Malformation	Cleft palate, Encephalocele, Dandy-Walker malformation, Aplasia/Hypoplasia of the corpus callosum	ORPHA:217
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Occipital encephalocele, Glioma, Micrognathia, Microcephaly, Hypothalamic...	OMIM:241800
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydranencephaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Hol...	OMIM:617967
Neural Tube Defects, Susceptibility To	Lipoma, Myelomeningocele, Multiple lipomas, Hydrocephalus, Spina bifida occulta, Anencephaly	OMIM:182940
Acromelic Frontonasal Dysplasia	Bifid nasal tip, Ventriculomegaly, Broad nasal tip, Hypoplasia of the olfactory bulb, Thick nasal...	ORPHA:1827
Lissencephaly 5	Leukoencephalopathy, Cerebellar vermis hypoplasia, Occipital encephalocele, Hypoplasia of the bra...	OMIM:615191
Microhydranencephaly	Ventriculomegaly, Hydranencephaly, Proptosis, Hypoplasia of the brainstem, Prominent nasal bridge...	OMIM:605013
Unilateral Ocular Duplication	Abnormal eyebrow morphology, Encephalocele, Hypertelorism, Midline facial cleft, Cleft palate	ORPHA:3374
Anophthalmia Plus Syndrome	Tessier cleft, Choanal atresia, Bilateral cleft palate, Abnormal nasal morphology, Spina bifida, ...	ORPHA:1104
Hartsfield Syndrome	Depressed nasal bridge, Non-midline cleft of the upper lip, Aplasia/Hypoplasia of the corpus call...	ORPHA:2117
Acromelic Frontonasal Dysostosis	Hypopituitarism, Encephalocele, Midline central nervous system lipomas, Agenesis of corpus callos...	OMIM:603671
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se...	ORPHA:2232
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Dysgyria, Cerebellar...	ORPHA:352682
Craniotelencephalic Dysplasia	Absent septum pellucidum, Hypotelorism, Agenesis of corpus callosum, Cerebellar hypoplasia, Front...	OMIM:218670
Alg13-Cdg	Global brain atrophy, Anteverted nares, Abnormal lateral ventricle morphology, Decreased body wei...	ORPHA:324422
Pai Syndrome	Depressed nasal bridge, Nasal polyposis, Aplasia/Hypoplasia of the corpus callosum, Midline defec...	ORPHA:1993
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Holoprosencephaly 5	Depressed nasal bridge, Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle ...	OMIM:609637
Hydrolethalus	Unilateral cleft lip, Retrognathia, Micrognathia, Absent septum pellucidum, Submucous cleft hard ...	ORPHA:2189
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Occipital encephalocele, Type II lissencephaly, Orofacial cleft, Hydrocephalus	ORPHA:324416
Oculocerebrocutaneous Syndrome	Alopecia, Cleft ala nasi, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Orbital...	OMIM:164180
Ovarian Dysgenesis 2	Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of...	OMIM:300510
Premature Ovarian Failure 5	Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu...	OMIM:611548
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Wide nasal bridge, Choanal atresia, Bifid nasal tip, Underdeveloped nasal alae, Agenesis of corpu...	ORPHA:521308
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida, Cleft palate, Non-midline cleft of the upper lip	ORPHA:2476
Frontonasal Dysplasia 2	Alopecia totalis, Tessier number 13 facial cleft, Encephalocele, Hypoplasia of the corpus callosu...	OMIM:613451
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Scalp Defects-Postaxial Polydactyly Syndrome	Encephalocele, Sparse scalp hair	ORPHA:1003
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Short stature, Neutropenia	ORPHA:90023
Meckel Syndrome, Type 4	Agenesis of cerebellar vermis, Encephalocele, Hypoplasia of the corpus callosum, Microcephaly, Cl...	OMIM:611134
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Tessier cleft, Choanal atresia, Depressed nasal ridge, Abnormal hair morphology, Ethmoidal enceph...	OMIM:607597
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Short stature, Neutropenia	OMIM:616022
Congenital Herpes Simplex Virus Infection	Microcephaly, Hydranencephaly	ORPHA:293
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Wide nasal bridge, Cerebral cortical atrophy, Ventriculomegaly, Aplasia/Hypoplasia of the corpus ...	ORPHA:3207
Polyrrhinia	Abnormal external nose morphology, Lateral ventricle dilatation, Supernumerary naris, Orofacial c...	ORPHA:141091
Duplication Of The Pituitary Gland	Retrognathia, Encephalocele, Teratoma, Agenesis of corpus callosum, Abnormal hypothalamus morphol...	ORPHA:314621
Craniotelencephalic Dysplasia	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, Frontal encephal...	ORPHA:1528
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Microcephaly, Hydranencephaly, Cleft palate, Underdeveloped nasal alae	OMIM:601355
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydranencephaly, Polymicrogyria, Hypoplasia of the brainstem, Micrognathia, Age...	OMIM:225790
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Depressed nasal bridge, Alopecia, Underdeveloped nasal alae, Fine hair, Anteverted nares, Encepha...	ORPHA:228390
Reticulum Cell Sarcoma	Sarcoma, Neoplasm	OMIM:267730
Frontorhiny	Cranium bifidum occultum, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the corpus callosum, H...	ORPHA:391474
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro...	OMIM:612885
Fryns Microphthalmia Syndrome	Tessier cleft, Bilateral cleft lip, Neural tube defect, Bilateral cleft palate	OMIM:600776
Ovarian Dysgenesis 10	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas...	OMIM:619834
Distal Deletion 13Q	Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Microcephaly, Hypertelorism, Holoprosen...	ORPHA:1590
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a...	ORPHA:3109
Lissencephaly 8	Ventriculomegaly, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of t...	OMIM:617255
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Lissencephaly 4	Wide nasal bridge, Agenesis of corpus callosum, Cerebellar hypoplasia, Colpocephaly, Primary micr...	OMIM:614019
Meckel Syndrome, Type 10	Occipital encephalocele, Dilated fourth ventricle, Cerebellar hypoplasia, Dandy-Walker malformati...	OMIM:614175
Ovarian Dysgenesis 9	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar...	OMIM:619665
Perrault Syndrome 6	Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl...	OMIM:617565
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Type II lissencephaly, Neural tube defect	OMIM:615041
Joubert Syndrome 16	Encephalocele, Dandy-Walker malformation, Hypertelorism	OMIM:614465
Distal 7Q11.23 Microduplication Syndrome	Benign neoplasm of the central nervous system, Hydrocephalus, Frontal encephalocele	ORPHA:261102
Frontonasal Dysplasia 3	Wide nasal bridge, Tessier cleft, Underdeveloped nasal alae, Sparse eyelashes, Absent eyebrow, Hy...	OMIM:613456
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Anterior encephalocele, Absent septum pellucidum, Bilateral cleft palate, Bilatera...	OMIM:601357
Meckel Syndrome, Type 8	Depressed nasal ridge, Occipital encephalocele, Encephalocele, Microcephaly, Short nose, Cleft pa...	OMIM:613885
Chromosome 13Q33-Q34 Deletion Syndrome	Wide nasal bridge, Choanal atresia, Delayed eruption of teeth, Micrognathia, Encephalocele, Agene...	OMIM:619148
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Premature Ovarian Failure 18	Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ...	OMIM:619203
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Agenesis of cerebellar vermis, Occipital encephalocele	OMIM:213010
Oculocerebrocutaneous Syndrome	Tessier cleft, Ventriculomegaly, Alopecia, Hypopigmented skin patches, Aplasia/Hypoplasia of the ...	ORPHA:1647
Meckel Syndrome, Type 2	Encephalocele, Dandy-Walker malformation, Meningocele, Anencephaly, Cleft palate	OMIM:603194
Premature Ovarian Failure 6	Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul...	OMIM:612310
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Parietal Foramina 3	Encephalocele	OMIM:609566
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Joubert Syndrome 14	Highly arched eyebrow, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Agenesis of cer...	OMIM:614424
Dk Phocomelia Syndrome	Encephalocele	OMIM:223340
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Microretrognathia, Hypoplasia of the brainstem, Bulbous nose, Anteverted nares, ...	OMIM:236500
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Parietal Foramina 1	Encephalocele, Cleft palate	OMIM:168500
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Short stature, Neutropenia	OMIM:610798
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test...	OMIM:614841
Septopreoptic Holoprosencephaly	Abnormal corpus callosum morphology, Hypoplasia of the pons, Abnormal septum pellucidum morpholog...	ORPHA:280195
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, Broad nasal tip, Micrognathia, Microcephaly, Hypertelorism, Bifid nose, Cleft palate	OMIM:239800
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Subependymal Nodular Heterotopia	Occipital encephalocele, Focal cortical dysplasia, Polymicrogyria, Myelomeningocele, Meningocele,...	ORPHA:101030
Cocaine Embryofetopathy	Encephalocele	ORPHA:1911
Premature Ovarian Failure 21	Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll...	OMIM:620311
Premature Ovarian Failure 8	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated...	OMIM:615723
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Wide nasal bridge, Cranium bifidum occultum, Tessier cleft, Sparse eyebrow, Hypoplasia of the fro...	ORPHA:306542
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn...	ORPHA:168563
Premature Ovarian Failure 9	Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir...	OMIM:615724
Congenital Muscular Dystrophy With Cerebellar Involvement	Diffuse white matter abnormalities, Ventriculomegaly, Decreased thalamic volume, Occipital enceph...	ORPHA:370959
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Thrombocytopenia, Leukemia, Growth delay	OMIM:614082
Perrault Syndrome 2	Amenorrhea, Streak ovary	OMIM:614926
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Meckel Syndrome, Type 5	Occipital encephalocele, Cleft palate, Anencephaly	OMIM:611561
Meckel Syndrome 13	Cerebellar hypoplasia, Micrognathia, Occipital encephalocele	OMIM:617562
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Ventriculomegaly, Proptosis, Encephalocele, Hydrocephalus, Holoprosencephaly	ORPHA:93274
Familial Hyperprolactinemia	Female hypogonadism, Hemorrhagic ovarian cyst, Amenorrhea, Oligomenorrhea, Infertility, Menorrhagia	ORPHA:397685
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Premature ovarian insufficiency, Hypoplasia of the ovary	OMIM:609993
Oculomaxillofacial Dysostosis	Wide nasal bridge, Tessier cleft, Abnormality of the nose, Underdeveloped nasal alae, Sparse or a...	ORPHA:1794
Hypogonadotropic Hypogonadism 25 With Anosmia	Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-...	OMIM:618841
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Depressed nasal bridge, Abnormal lateral ventricle morphology, Hypoplasia of the corpus callosum,...	ORPHA:488635
Joubert Syndrome 18	Occipital encephalocele, Retrognathia, Agenesis of corpus callosum, Agenesis of cerebellar vermis...	OMIM:614815
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:614129
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the cerebellar vermis, Encephalocele	ORPHA:65
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Acrofacial Dysostosis, Catania Type	Tessier cleft, Coarse hair, Carious teeth, Hypoplasia of the zygomatic bone, Microretrognathia, M...	ORPHA:1786
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Dilated third ventricle, Lateral ventricle dilatation, Basal ganglia calcification, Cerebral calc...	OMIM:620371
Griscelli Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmented skin patches, White hair, Premature grayin...	ORPHA:381
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Meckel Syndrome, Type 9	Occipital encephalocele	OMIM:614209
Microcephaly 17, Primary, Autosomal Recessive	Ventriculomegaly, Failure to thrive, Hypoplasia of the brainstem, Bulbous nose, Hypoplasia of the...	OMIM:617090
Joubert Syndrome With Renal Defect	Highly arched eyebrow, Cerebellar vermis hypoplasia, Polymicrogyria, Anteverted nares, Prominent ...	ORPHA:220497
Congenital Hydrocephalus	Small cerebral cortex, Ventriculomegaly, Abnormal cortical gyration, Bulbous nose, Colpocephaly, ...	ORPHA:2185
Holoprosencephaly	Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Deeply set eye, Hypertelorism, Cyclopia...	ORPHA:2162
Leopard Syndrome 1	Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty,...	OMIM:151100
Enlarged Parietal Foramina	Occipital encephalocele, Myelomeningocele, Encephalomalacia, Multiple exostoses, Cleft palate	ORPHA:60015
Trisomy 18	Choanal atresia, Microretrognathia, Aplasia/Hypoplasia of the corpus callosum, Abnormality of ret...	ORPHA:3380
Leptin Receptor Deficiency	Recurrent upper respiratory tract infections, Decreased response to growth hormone stimulation te...	OMIM:614963
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Abnormal corpus callosum morphology, Depressed nasal bridge, Ventriculomegaly, Dilated third vent...	ORPHA:397715
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland, Ventriculomegaly, Hydrocephalus, Hypertelorism, Nasofrontal encephalocele	OMIM:614195
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Short stature, Growth delay	OMIM:612563
Joubert Syndrome 9	Ventriculomegaly, Encephalocele	OMIM:612285
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Ventriculomegaly, Cerebellar vermis hypoplasia, Polymicrogyria, Hamartoma...	OMIM:616546
Diamond-Blackfan Anemia 4	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Short stature, Growth delay	OMIM:612527
Joubert Syndrome	Highly arched eyebrow, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, P...	ORPHA:475
Adams-Oliver Syndrome 2	Depressed nasal bridge, Alopecia, Lateral ventricle dilatation, Small nail, Cerebral atrophy, Pol...	OMIM:614219
Perrault Syndrome 4	Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased...	OMIM:615300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Lissencephaly, Ventriculomegaly, Retrognathia, Polymicrogyria, Type II lissencephaly, Hypoplasia ...	OMIM:614643
Joubert Syndrome With Ocular Defect	Highly arched eyebrow, Cerebellar vermis hypoplasia, Polymicrogyria, Anteverted nares, Prominent ...	ORPHA:220493
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Meckel Syndrome, Type 11	Occipital encephalocele	OMIM:615397
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Proptosis, Micrognathia, Encephalocele, Hirsutism, Microcephaly, Hydrocephalus...	ORPHA:1865
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino...	OMIM:606719
Limb-Mammary Syndrome	Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ...	ORPHA:69085
Supernumerary Nostril	Tessier cleft, Choanal atresia, Supernumerary naris	ORPHA:141096
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:615285
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Azoospe...	ORPHA:432
Iniencephaly	Lissencephaly, Spinal dysraphism, Myelomeningocele, Encephalocele, Orofacial cleft, Hydrocephalus...	ORPHA:63259
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Ventriculomegaly, Lateral ventricle dilatation, Dilated fourth ventricle,...	OMIM:613443
Acrofacial Dysostosis, Weyers Type	Tessier cleft, Toenail dysplasia, Small nail, Abnormal fingernail morphology, Nail dystrophy, Hyp...	ORPHA:952
Cerebrooculonasal Syndrome	Cerebellar vermis hypoplasia, Ventriculomegaly, Sparse eyebrow, Proboscis, Anteverted nares, Prom...	OMIM:605627
46,Xx Gonadal Dysgenesis	Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De...	ORPHA:243
Pentalogy Of Cantrell	Encephalocele, Orofacial cleft, Hydrocephalus, Anencephaly, Non-midline cleft of the upper lip, C...	ORPHA:1335
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Hemochromatosis, Type 3	Lymphopenia, Hypogonadotropic hypogonadism, Amenorrhea, Neutropenia, Anemia, Impotence	OMIM:604250
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of the premaxilla, Umbilical hernia, Aplasia/Hypoplasia of the corpus callosum, Microg...	ORPHA:2166
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Micrognathia, Encephalocele, Hirsutism, Shallow orbits, Hydrocephalus, Cleft palate	OMIM:224400
Cerebrooculonasal Syndrome	Tessier cleft, Sparse eyebrow, Sparse eyelashes, Hypertelorism, Abnormal nostril morphology	ORPHA:66625
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Treacher-Collins Syndrome	Wide nasal bridge, Choanal atresia, Tessier cleft, Hypoplasia of the maxilla, Branchial fistula, ...	ORPHA:861
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology	OMIM:615214
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Frasier Syndrome	Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G...	ORPHA:347
Waardenburg Syndrome Type 1	Wide nasal bridge, Mandibular prognathia, Hypopigmented skin patches, Underdeveloped nasal alae, ...	ORPHA:894
Pelvis-Shoulder Dysplasia	Hydranencephaly, Facial hirsutism, Micrognathia, Hydrocephalus, Spina bifida, Cleft palate	ORPHA:2839
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto...	OMIM:194072
Ziegler-Huang Syndrome	Persistence of hemoglobin F, Hypogonadism, Intrauterine growth retardation, Macrocytic anemia, Ne...	OMIM:620501
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Reduced cerebral white matter volume, Retrognathia, Cerebral atrophy, Polymicro...	OMIM:620156
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Mosaic Trisomy 9	Tessier cleft, Ventriculomegaly, Small nail, Bulbous nose, Micrognathia, Hypotelorism, Microcepha...	ORPHA:99776
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo...	OMIM:614470
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
46,Xy Partial Gonadal Dysgenesis	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,...	ORPHA:251510
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Frontofacionasal Dysplasia	Cranium bifidum occultum, Hypoplasia of the frontal bone, Underdeveloped nasal alae, Midline defe...	OMIM:229400
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Meckel Syndrome, Type 3	Cleft palate, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Depressed nasal bridge, Supernumerary nipple, Agenesis of corpus callosum, Low posterior hairline...	OMIM:618929
Ring Chromosome 13 Syndrome	Wide nasal bridge, Depressed nasal bridge, Alopecia, Anteverted nares, Micrognathia, Retinoblasto...	ORPHA:96176
Dystonia 30	Diffuse cerebral atrophy, Globus pallidus hypointensity on susceptibility-weighted imaging, Hypot...	OMIM:619291
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Joubert Syndrome With Oculorenal Defect	Highly arched eyebrow, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, A...	ORPHA:2318
Multiple Self-Healing Squamous Epithelioma, Susceptibility To	Self-healing squamous epithelioma, Hypertelorism	OMIM:132800
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Cleft palate, Anencephaly	OMIM:612284
Mycophenolate Mofetil Embryopathy	Tessier cleft, Micrognathia, Hypoplastic toenails, Agenesis of corpus callosum, Orofacial cleft, ...	ORPHA:268249
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Depressed nasal bridge, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Failure to th...	ORPHA:284417
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Wide nasal bridge, Depressed nasal ridge, Abnormal cortical gyration, Proptosis, Polymicrogyria, ...	ORPHA:2211
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Refractory Anemia	Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut...	ORPHA:98826
Pontocerebellar Hypoplasia, Type 12	Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia of the brainstem,...	OMIM:618266
Joubert Syndrome 2	Abnormal corpus callosum morphology, Depressed nasal bridge, Enlarged fossa interpeduncularis, Fa...	OMIM:608091
Band Heterotopia	Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr...	OMIM:600348
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,...	ORPHA:2235
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Ventriculomegaly, Failure to thrive, Long eyelashes, Thick eyebrow, Periv...	OMIM:619833
Limb Body Wall Complex	Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Myelomeningocele, Encephalocele, Shor...	ORPHA:2369
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Microcephaly, Short nose, Thin ...	OMIM:615716
46,Xy Sex Reversal 7	Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon...	OMIM:233420
Cousin Syndrome	Hydranencephaly, Facial hirsutism, Micrognathia, Low anterior hairline, Deeply set eye, Hydroceph...	OMIM:260660
Coach Syndrome 1	Cerebellar vermis hypoplasia, Occipital encephalocele, Anteverted nares, Encephalocele, Hypertelo...	OMIM:216360
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries	ORPHA:1643
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Satoyoshi Syndrome	Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog...	ORPHA:3130
Adams-Oliver Syndrome	Alopecia, Failure to thrive, Hypoplastic fingernail, Periventricular leukomalacia, Encephalocele,...	ORPHA:974
Joubert Syndrome 7	Abnormal corpus callosum morphology, Encephalocele, Hypoplasia of the brainstem	OMIM:611560
Polymicrogyria Due To Tubb2B Mutation	Abnormal corpus callosum morphology, Hypoplasia of the pons, Lateral ventricle dilatation, Dysgen...	ORPHA:300573
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele	OMIM:614416
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Vacterl/Vater Association	Occipital encephalocele, Anencephaly, Cleft palate, Non-midline cleft of the upper lip, Cavernous...	ORPHA:887
Cerebrocostomandibular Syndrome	Hydranencephaly, Myelomeningocele, Cerebral calcification, Micrognathia, Porencephalic cyst, Micr...	ORPHA:1393
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Ventriculomegaly, Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Ag...	OMIM:615287
Meckel Syndrome	Depressed nasal ridge, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Encephalocele, Mi...	ORPHA:564
Agammaglobulinemia 3, Autosomal Recessive	Absent circulating B cells, Neutropenia, Abnormal T cell morphology	OMIM:613501
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Intrauterine growth retardation, Neutropenia	ORPHA:2643
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Ventriculomegaly, Proptosis, Anteverted nares, Long eyelashes, Micrognathia, H...	OMIM:618577
Otopalatodigital Syndrome Type 2	Depressed nasal bridge, Failure to thrive, Myelomeningocele, Micrognathia, Encephalocele, Cerebel...	ORPHA:90652
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Small nail, Polymicrogyria, Anteverted nares, Cerebellar hypoplasia, Microcephaly, Colpocephaly, ...	OMIM:618731
Martsolf Syndrome 2	Broad nasal tip, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Decreased body ...	OMIM:619420
Blepharocheilodontic Syndrome 1	Choanal atresia, High anterior hairline, Small nail, Nail dysplasia, Distichiasis, Hypertelorism,...	OMIM:119580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Ventriculomegaly, Hypoplasia of the brainstem, Type II lissencephaly, Encephalocele, Agenesis of ...	OMIM:613150
Acalvaria	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bifida, Hypertelorism, Holoprosencepha...	ORPHA:945
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:603552
Craniopharyngioma	Increased circulating prolactin concentration, Hypopituitarism, Obesity, Cerebral calcification, ...	ORPHA:54595
Pseudotrisomy 13 Syndrome	Polymicrogyria, Median cleft palate, Encephalocele, Hypotelorism, Agenesis of corpus callosum, Ce...	OMIM:264480
Isolated Arrhinia	Tessier cleft, Underdeveloped nasal alae, Midline defect of the nose, Aplasia/Hypoplasia of the n...	ORPHA:1134
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hamartoma of tongue, Median cleft palate, Hypoplastic nipples, Hydrocephalus, Hypert...	OMIM:269860
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Meckel Syndrome, Type 1	Ventriculomegaly, Cerebral hypoplasia, Occipital encephalocele, Natal tooth, Enlarged naris, Dila...	OMIM:249000
Pontocerebellar Hypoplasia, Type 13	Cerebellar vermis hypoplasia, Failure to thrive, Lateral ventricle dilatation, Hypoplasia of the ...	OMIM:618606
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Fraser Syndrome 1	Wide nasal bridge, Depressed nasal bridge, Tessier cleft, Abnormal cortical gyration, Dental malo...	OMIM:219000
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Anteverted nares, Generalized hyperpigmentation, Hypopigmentation of hair,...	ORPHA:1355
Crouzon Syndrome With Acanthosis Nigricans	Choanal atresia, Proptosis, Melanocytic nevus, Hydrocephalus, Hypertelorism	OMIM:612247
Peroxisome Biogenesis Disorder 6A (Zellweger)	Wide nasal bridge, Colpocephaly, Pachygyria	OMIM:614870
Alexander Disease Type I	Failure to thrive, Focal T2 hyperintense basal ganglia lesion, Cachexia, Abnormal cerebral white ...	ORPHA:363717
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Intrauterine growth retardation, Anemia, Neutropenia	OMIM:617056
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Sparse eyebrow, Microretrognathia, Natal tooth, Hamartoma of tongue, Prominent nose, Encephalocel...	OMIM:616300
Joubert Syndrome With Hepatic Defect	Highly arched eyebrow, Cerebellar vermis hypoplasia, Occipital encephalocele, Aplasia/Hypoplasia ...	ORPHA:1454
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Craniosynostosis 6	Lateral ventricle dilatation, Low anterior hairline, Agenesis of corpus callosum, Microcephaly, H...	OMIM:616602
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Intellectual Developmental Disorder, Autosomal Dominant 48	Highly arched eyebrow, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Umbilical hern...	OMIM:617751
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Hypoplasia of the pons, Low anterior hairline, Agenesis of corpus c...	OMIM:618736
Facial Clefting, Oblique, 1	Tessier number 4 facial cleft, Cleft palate	OMIM:600251
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Leukoencephalopathy, Highly arched eyebrow, Dilated third ventricle, Lateral ventricle dilatation...	OMIM:619244
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Intellectual Developmental Disorder, Autosomal Dominant 70	Wide nasal bridge, Highly arched eyebrow, Hypoplasia of the maxilla, Broad nasal tip, Failure to ...	OMIM:620157
Holoprosencephaly 7	Hypoplastic nasal septum, Hypoplasia of the premaxilla, Alobar holoprosencephaly, Agenesis of cor...	OMIM:610828
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of t...	OMIM:236670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Polymicrogyria, Type II lissencephaly, Agyria, Hypoplasia of the brainstem, Encephalocele, Agenes...	OMIM:253800
Neu-Laxova Syndrome 1	Lissencephaly, Depressed nasal ridge, Hydranencephaly, Ventriculomegaly, Proptosis, Small placent...	OMIM:256520
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Microcephaly, Micrognathia, Occipital encephalocele	OMIM:224410
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Alopecia, Dilated third ventricle, Sparse eyebrow, Lateral ventricle dilatation, Small nail, Retr...	ORPHA:544488
2,4-Dienoyl-Coa Reductase Deficiency	Ventriculomegaly, Failure to thrive, Cerebral atrophy, Hypoplasia of the corpus callosum, Microce...	OMIM:616034
Fanconi Anemia, Complementation Group V	Short stature, Thrombocytopenia, Anemia, Neutropenia	OMIM:617243
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon, Proptosis, Microcephaly, Hypertelorism, Cyclopia, Holoprosenceph...	ORPHA:2165
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Depressed nasal bridge, Lateral ventricle dilatation, Retinal pigment epithelial mottling, Bulbou...	OMIM:614105
Hepatic Adenomas, Familial	Maturity-onset diabetes of the young, Polycystic ovaries	OMIM:142330
Central Neurocytoma	Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus	ORPHA:73256
Holoprosencephaly 1	Tessier cleft, Alobar holoprosencephaly, Proboscis, Median cleft palate, Hypotelorism, Agenesis o...	OMIM:236100
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Wide nasal bridge, Depressed nasal bridge, Abnormal dental enamel morphology, Bulbous nose, Promi...	ORPHA:2180
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia, Abnormal T cell morphology	OMIM:613502
Thoracoabdominal Syndrome	Anencephaly, Hydrocephalus, Cleft palate	OMIM:313850
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Polymicrogyria With Optic Nerve Hypoplasia	Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callo...	ORPHA:250972
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Retrognathia, Anteverted nares, Micrognathia, Hyperte...	OMIM:619879
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Bainbridge-Ropers Syndrome	Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Supernumerary nipple, Microg...	OMIM:615485
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Short stature, Neutropenia	OMIM:618752
Leukoencephalopathy With Vanishing White Matter 5	Dilated third ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation,...	OMIM:620315
Unilateral Hemispheric Polymicrogyria	Cortical dysplasia, Cerebral hypoplasia, Thick cerebral cortex, Lateral ventricle dilatation	ORPHA:101071
Intellectual Developmental Disorder, X-Linked 103	Anteverted nares, Lateral ventricle dilatation, Polymicrogyria	OMIM:300982
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ...	ORPHA:443167
Alg2-Cdg	Wide nasal bridge, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly,...	ORPHA:79326
Joubert Syndrome 8	Obesity, Occipital encephalocele, Pigmentary retinopathy	OMIM:612291
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy, Cerebral cortical atrophy, Lateral ventricle dilatation, Abnormal substanti...	ORPHA:2822
Frias Syndrome	Micrognathia, Proptosis, Hypertelorism	OMIM:609640
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Polycystic ovaries, Oligomenorrhea, Abnormal circulating hormone concentration,...	ORPHA:280356
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Neutropenia, Monocytosis	ORPHA:2688
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Atelosteogenesis, Type I	Depressed nasal bridge, Proptosis, Micrognathia, Encephalocele, Short nose, Hypertelorism, Cleft ...	OMIM:108720
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia	OMIM:606843
Pelger-Huet Anomaly	Giant platelets, Umbilical hernia, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocyt...	OMIM:169400
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f...	ORPHA:91348
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Retrognathia, Hypertrichosis, Secondary microcephaly, Bulbous nose, Hypoplasia of the corpus call...	OMIM:620113
Neuroectodermal Melanolysosomal Disease	Cerebral cortical atrophy, Hypopigmentation of the skin, Premature graying of hair, Generalized h...	ORPHA:33445
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Broad columella, Lateral ventricle dilatation, Retrognathia, Thick nasal alae, Bulbous nose, Depr...	ORPHA:293725
Xeroderma Pigmentosum, Complementation Group G	Defective DNA repair after ultraviolet radiation damage	OMIM:278780
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Thrombocytopenia, Growth delay, Neutropenia	ORPHA:289916
Whim Syndrome 1	Neutropenia	OMIM:193670
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Depressed nasal bridge, Sparse eyebrow, Reduced cerebral white matter volume, Lateral ventricle d...	OMIM:620075
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
Aicardi Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Metastatic angiosarcoma, Prominence of the...	OMIM:304050
Waardenburg Syndrome, Type 1	Wide nasal bridge, Mandibular prognathia, Underdeveloped nasal alae, Premature graying of hair, M...	OMIM:193500
Aromatase Deficiency	Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:613546
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebral cortical atrophy, Lateral ventricle dila...	OMIM:618291
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy, Polymic...	ORPHA:79243
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Failure to thrive, Decreased response to growth hormone stimulation...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Failure to thrive, Decreased response to growth hormone stimulation...	ORPHA:71526
Prader-Willi Syndrome Due To Translocation	Carious teeth, Lateral ventricle dilatation, Micrognathia, Deeply set eye, Anterior pituitary hyp...	ORPHA:177907
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen...	OMIM:618986
Tubulinopathy-Associated Dysgyria	Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormality ...	ORPHA:467166
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Midline defect of the nose, Micrognathia, Absent septum pellucidum, A...	OMIM:236680
Arachnoid Cyst	Enlarged fossa interpeduncularis, Neoplasm, Encephalocele, Hydrocephalus, Holoprosencephaly, Post...	ORPHA:2356
Joubert Syndrome 3	Wide nasal bridge, Highly arched eyebrow, Pigmentary retinopathy, Enlarged fossa interpedunculari...	OMIM:608629
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Dworschak-Punetha Neurodevelopmental Syndrome	Depressed nasal bridge, Sparse lateral eyebrow, Agenesis of corpus callosum, Dysplastic corpus ca...	OMIM:619955
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega...	ORPHA:158057
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules	ORPHA:238459
Waardenburg-Shah Syndrome	Wide nasal bridge, Abnormality of the nose, Underdeveloped nasal alae, Premature graying of hair,...	ORPHA:897
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ...	OMIM:301078
Joubert Syndrome 21	Occipital encephalocele, Hypoplasia of the brainstem, Encephalocele, Hypoplasia of the corpus cal...	OMIM:615636
Waardenburg Syndrome	Wide nasal bridge, Hypopigmented skin patches, Underdeveloped nasal alae, Premature graying of ha...	ORPHA:3440
Oculoskeletodental Syndrome	Wide nasal bridge, Depressed nasal bridge, Abnormality of the frontal hairline, Abnormal thalamus...	ORPHA:557003
Constricting Bands, Congenital	Tessier cleft, Encephalocele, Cleft palate	OMIM:217100
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Distal Deletion 10Q	Wide nasal bridge, Inferior cerebellar vermis hypoplasia, Proptosis, Failure to thrive, Lateral v...	ORPHA:96148
Knobloch Syndrome 1	Depressed nasal bridge, Ventriculomegaly, Occipital encephalocele, Horizontal eyebrow, Cerebral a...	OMIM:267750
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Tessier cleft, Supernumerary nipple, Microcephaly, Hypertelorism, Mandibular prognathia	ORPHA:1236
Adams-Oliver Syndrome 1	Ventriculomegaly, Alopecia, Small nail, Supernumerary nipple, Polymicrogyria, Periventricular leu...	OMIM:100300
Congenital Disorder Of Deglycosylation 2	Highly arched eyebrow, Ventriculomegaly, Cerebellar vermis hypoplasia, Polymicrogyria, Hamartoma ...	OMIM:619775
Global Developmental Delay With Or Without Impaired Intellectual Development	Bulbous nose, Lateral ventricle dilatation, Hypotelorism	OMIM:618330
Severe X-Linked Intellectual Disability, Gustavson Type	Recurrent upper respiratory tract infections, Lateral ventricle dilatation, Dilated fourth ventri...	ORPHA:3078
Bartsocas-Papas Syndrome 1	Tessier cleft, Alopecia, Sparse scalp hair, Hypoplasia of the maxilla, Small nail, Underdeveloped...	OMIM:263650
Pontocerebellar Hypoplasia, Type 1A	Cerebral cortical atrophy, Neuronal loss in basal ganglia, Lateral ventricle dilatation, Hypoplas...	OMIM:607596
Malan Overgrowth Syndrome	Depressed nasal bridge, Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the brainst...	ORPHA:420179
Specific Granule Deficiency 2	Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia	OMIM:617475
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Polycysti...	ORPHA:3085
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Cerebral cortical atrophy, Lateral ventricle dilatation, Periventricular cysts, Microcephaly, Abn...	OMIM:617668
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P...	OMIM:300835
Autosomal Recessive Spastic Paraplegia Type 66	Cerebellar hypoplasia, Colpocephaly, Hypoplasia of the corpus callosum	ORPHA:401815
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Hypoplasia of the olfactory bulb, Optic nerve hypoplasia, Lateral v...	ORPHA:300570
Rhombencephalosynapsis	Ventriculomegaly, Microretrognathia, Fusion of the left and right thalami, Anteverted nares, Hydr...	ORPHA:59315
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu...	ORPHA:486
Glutamine Deficiency, Congenital	Wide nasal bridge, Depressed nasal bridge, Lateral ventricle dilatation, Anteverted nares, Hypopl...	OMIM:610015
Rudiger Syndrome	Micropenis, Bicornuate uterus, Ovarian cyst	OMIM:268650
Fanconi Anemia, Complementation Group A	Deficient excision of UV-induced pyrimidine dimers in DNA, Male infertility, Cryptorchidism, Prol...	OMIM:227650
Weiss-Kruszka Syndrome	Highly arched eyebrow, Ventriculomegaly, Hypoplastic fingernail, Anteverted nares, Hypoplasia of ...	OMIM:618619
Alg3-Cdg	Hypopigmentation of the skin, Hypoplasia of the pons, Abnormality of the nose, Hypoplasia of the ...	ORPHA:79321
Knobloch Syndrome	Abnormal hair morphology, Depressed nasal bridge, Occipital encephalocele, Hydrocephalus	ORPHA:1571
Leukoencephalopathy, Progressive, With Ovarian Failure	Leukoencephalopathy, Progressive leukoencephalopathy, Lateral ventricle dilatation, Periventricul...	OMIM:615889
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil ...	OMIM:619220
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Bulbous nose, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocep...	OMIM:615219
Coasy Protein-Associated Neurodegeneration	Abnormal thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal corpus striat...	ORPHA:397725
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Dilated third ventricle, Pigmentary retinopathy, Lateral ventricle dilatation, ...	OMIM:613154
Griscelli Syndrome, Type 2	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:607624
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ...	ORPHA:1772
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Fanconi Anemia, Complementation Group E	Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Prolonged G2 phase of ...	OMIM:600901
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast...	ORPHA:98850
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B...	OMIM:619705
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Short stature, Growth delay, Megaloblastic anemia, Neutropenia	OMIM:250940
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia	OMIM:615387
Immunodeficiency 55	Absent natural killer cells, Postnatal growth retardation, Intrauterine growth retardation, Lymph...	OMIM:617827
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Ventriculomegaly, Hypoplasia of the zygomatic bone, Fine hair, Supernumer...	ORPHA:1812
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Fusion of the left and right thalami, Agenesis of corpus callosum, Hydroc...	OMIM:617542
3Mc Syndrome 3	Tessier cleft, Highly arched eyebrow, Cleft palate, Hypertelorism	OMIM:248340
Griscelli Syndrome Type 2	Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia	ORPHA:79477
Joubert Syndrome 39	Cerebellar vermis hypoplasia, Overweight, Occipital encephalocele	OMIM:619562
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Holoprosencephaly 13, X-Linked	Alobar holoprosencephaly, Semilobar holoprosencephaly, Micrognathia, Median cleft palate, Submuco...	OMIM:301043
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Congenital Disorder Of Glycosylation, Type Iig	Wide nasal bridge, Cerebellar vermis hypoplasia, Proptosis, Lateral ventricle dilatation, Cerebra...	OMIM:611209
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse eyebrow, Dilated third ventricle, Sparse scalp hair, Lateral ventricle dilatation, Cerebra...	ORPHA:464738
Fraser Syndrome	Wide nasal bridge, Depressed nasal bridge, Dental malocclusion, Underdeveloped nasal alae, Umbili...	ORPHA:2052
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell...	OMIM:607676
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Postnatal growth retardation, Intrauterine growth retardation,...	ORPHA:2169
Halperin-Birk Syndrome	Ventriculomegaly, Semilobar holoprosencephaly, Failure to thrive, Umbilical hernia, Long eyelashe...	OMIM:618651
Cach Syndrome	Lateral ventricle dilatation, Cerebral atrophy, Dysgyria, T2 hypointense thalamus, Microcephaly, ...	ORPHA:135
Immunodeficiency 102	Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells...	OMIM:301082
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Absent septum pellucidum, Agenesis of corp...	OMIM:609053
Neu-Laxova Syndrome 2	Lissencephaly, Depressed nasal ridge, Ventriculomegaly, Proptosis, Micrognathia, Cerebellar hypop...	OMIM:616038
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia	ORPHA:2795
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm...	ORPHA:3464
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Lateral ventricle dilatation	ORPHA:77299
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Microretrognathia, Occipital encephalocele, Natal tooth, Polymicrog...	OMIM:615948
Acquired Hypertrichosis Lanuginosa	Neoplasm of the respiratory system, Fine hair, Abnormal eyebrow morphology, Neoplasm, Generalized...	ORPHA:2221
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Pancreatitis, Diabetes mellitus, Polycystic ovaries	ORPHA:79084
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Dysmenorrhea...	ORPHA:90796
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:616816
Mitochondrial Complex I Deficiency, Nuclear Type 33	Intrauterine growth retardation, Neutropenia	OMIM:618253
Orofaciodigital Syndrome I	Wide nasal bridge, Alopecia, Dry hair, Abnormal cortical gyration, Carious teeth, Underdeveloped ...	OMIM:311200
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Low ins...	OMIM:619995
Propionic Acidemia	Pancytopenia, Anemia, Thrombocytopenia, Neutropenia, Short stature	OMIM:606054
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope...	OMIM:304790
Muenke Syndrome	Proptosis, Hypopigmented skin patches, Hydrocephalus, Hypertelorism, Hypopigmentation of hair, Hy...	ORPHA:53271
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Growth delay, Thrombocytopenia, Neutropenia	OMIM:614857
Piebaldism	Wide nasal bridge, Neoplasm of the skin, Hypopigmented skin patches, White forelock, Heterochromi...	ORPHA:2884
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Leukoencephalopathy, Lateral ventricle dilatation, Cerebral atrophy, Basal ganglia calcification,...	OMIM:221770
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling, Lateral ventricle dilatation, Microcephaly, Partial agenesis...	OMIM:619517
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Trichothiodystrophy 3, Photosensitive	Short stature, Lymphopenia, Intrauterine growth retardation, Neutropenia	OMIM:616395
X-Linked Parkinsonism-Spasticity Syndrome	Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Obesity, Deeply set eye,...	OMIM:617296
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Optic nerve hypopl...	OMIM:618890
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim...	ORPHA:572
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Disproportionate short stature, Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thr...	OMIM:301110
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Neutropenia	OMIM:620443
Chromosome 6Q24-Q25 Deletion Syndrome	Lateral ventricle dilatation, Probst bundles, Anteverted nares, Submucous cleft hard palate, Agen...	OMIM:612863
Hemiparkinsonism-Hemiatrophy Syndrome	Cerebral cortical hemiatrophy, Lateral ventricle dilatation	ORPHA:306669
Spondyloenchondrodysplasia	Ventriculomegaly, Dental malocclusion, Delayed eruption of teeth, Decreased response to growth ho...	ORPHA:1855
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Fair hair, Anteverted nares, Obesity, Blue irides, Red hair, Mandibular p...	OMIM:614613
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Metrorrhagia, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Fanconi Anemia, Complementation Group C	Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Prolonged G2 phase of ...	OMIM:227645
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:601859
Estrogen Resistance	Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul...	OMIM:615363
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Broad nasal tip, Failure to thrive, Polymicrogyria, Hamartoma of to...	OMIM:277170
Pgm3-Cdg	Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphopenia, Leukop...	ORPHA:443811
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
X-Linked Intellectual Disability, Wilson Type	Microcephaly, Mandibular prognathia, Lateral ventricle dilatation, Abnormal position of hair whorl	ORPHA:85290
X-Linked Agammaglobulinemia	Anemia, Thrombocytopenia, Neutropenia, Short stature, Recurrent cutaneous abscess formation	ORPHA:47
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Insulin-resistant diabetes mellitus, Secondary amenorrhea, Hypergonadotropic hypogonadism, Polycy...	OMIM:268020
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia	OMIM:619752
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia	ORPHA:398124
Hoyeraal-Hreidarsson Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Generalized hypopigmentation of hair, Failure to thr...	ORPHA:3322
Weaver Syndrome	Depressed nasal bridge, Ventriculomegaly, Mandibular prognathia, Lateral ventricle dilatation, Fi...	OMIM:277590
Schimke Immunoosseous Dysplasia	Lymphopenia, Intrauterine growth retardation, Pancytopenia, Abnormal T cell morphology, Dispropor...	OMIM:242900
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Wide nasal bridge, Sparse eyebrow, High anterior hairline, Supernumerary nipple, Hypertrichosis, ...	ORPHA:477993
Schimke Immuno-Osseous Dysplasia	Abnormal proportion of naive CD4 T cells, Lymphopenia, Intrauterine growth retardation, Anemia, D...	ORPHA:1830
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Intrauterine growth retardation, Pancytopenia, Leukopenia, Macrocytic anemia, An...	OMIM:613990
Paganini-Miozzo Syndrome	Mandibular prognathia, Lateral ventricle dilatation, Deeply set eye	OMIM:301025
Slc35A2-Cdg	Hypopigmentation of the skin, Lateral ventricle dilatation, Cerebral atrophy, Failure to thrive i...	ORPHA:356961
Cohen Syndrome	Short stature, Leukopenia, Delayed puberty, Neutropenia	OMIM:216550
Aregenerative Anemia	Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos...	ORPHA:101096
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Short corpus callosum, Lateral ventricle dilatation	OMIM:619972
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Cessation of head growth, Hypopigmentation of the skin, Obesity, Hypopigme...	ORPHA:411515
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Developmental And Epileptic Encephalopathy 31B	Ventriculomegaly, Reduced cerebral white matter volume, Failure to thrive, Secondary microcephaly...	OMIM:620352
Carney Complex, Type 1	Palatine myxoma, Pituitary adenoma, Multiple lentigines, Myxoid subcutaneous tumors, Pheochromocy...	OMIM:160980
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Thrombocytopenia, Neutropenia, Umbilical hernia	OMIM:614520
Barth Syndrome	Cyclic neutropenia, Hypochromic microcytic anemia, Neutropenia, Granulocytopenia, Growth delay	OMIM:302060
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Retrognathia, Lateral ventricle dilatation, Umbilical hernia, Micrognathia, Hypoplasia of the cor...	OMIM:618914
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Irregular menstruation, Precocious puberty, Clitoral hypertrophy, Long penis, Premature adrenarch...	ORPHA:90795
Diamond-Blackfan Anemia 11	Short stature, Neutropenia, Anemia of inadequate production	OMIM:614900
Neurocardiofaciodigital Syndrome	Cerebellar vermis hypoplasia, Sparse eyebrow, Lateral ventricle dilatation, Failure to thrive, Re...	OMIM:619869
Xeroderma Pigmentosum, Complementation Group F	Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid...	OMIM:278760
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Depressed nasal bridge, Dilated third ventricle, Failure to thrive, Lateral ventricle dilatation,...	OMIM:619575
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Ventriculomegaly, Anteverted nares, Micrognathia, Hypoplasia of the corpus...	ORPHA:261250
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr...	ORPHA:79085
Femoral-Facial Syndrome	Ventriculomegaly, Underdeveloped nasal alae, Micrognathia, Encephalocele, Agenesis of corpus call...	OMIM:134780
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ...	ORPHA:572333
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Intrauterine growth retardation, Macrocytic anemia, Neutropeni...	OMIM:612562
Immunodeficiency 110 With Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Neutropenia	OMIM:614868
Piebald Trait-Neurologic Defects Syndrome	Neoplasm of the skin, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow m...	ORPHA:2885
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Wide nasal bridge, Depressed nasal bridge, Highly arched eyebrow, Abnormal thalamus morphology, A...	ORPHA:404440
Amoebiasis Due To Free-Living Amoebae	Abnormal cerebral cortex morphology, Abnormal basal ganglia morphology, Abnormal hypothalamus mor...	ORPHA:68
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Wars2-Related Combined Oxidative Phosphorylation Defect	Wide nasal bridge, Cerebellar vermis hypoplasia, Ventriculomegaly, Leukoencephalopathy, Lateral v...	ORPHA:572798
Fanconi Anemia, Complementation Group D2	Deficient excision of UV-induced pyrimidine dimers in DNA, Annular pancreas, Cryptorchidism, Prol...	OMIM:227646
Squalene Synthase Deficiency	Depressed nasal bridge, Retrognathia, Polymicrogyria, Failure to thrive in infancy, Micrognathia,...	OMIM:618156
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Leukopenia, Neutropenia, Thrombocytopenia, Short stature	OMIM:613989
Oculocerebral Hypopigmentation Syndrome, Preus Type	Iris hypopigmentation, White hair, Ocular albinism, Aplasia/Hypoplasia of the cerebellum, Hydroce...	ORPHA:2720
Congenital Enterovirus Infection	Leukopenia, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia	ORPHA:292
Bilateral Generalized Polymicrogyria	Diffuse white matter abnormalities, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the...	ORPHA:208447
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Neutr...	OMIM:607594
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Intrauterine growth retardation, Leukopenia, Neutropenia, Thrombocytopenia, Growth delay	OMIM:616271
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Knobloch Syndrome 2	Micrognathia, Enamel hypoplasia, Encephalocele	OMIM:618458
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Failure to thrive in i...	ORPHA:488627
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant...	ORPHA:90301
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Micrognathia, Lateral ventricle dilatation, Multifocal cerebral white matter ...	OMIM:600721
Peroxisome Biogenesis Disorder 5A (Zellweger)	Wide anterior fontanel, Pigmentary retinopathy, Failure to thrive, Small nail, Polymicrogyria, Mi...	OMIM:614866
Roberts-Sc Phocomelia Syndrome	Wide nasal bridge, Proptosis, Underdeveloped nasal alae, Narrow naris, Cavernous hemangioma of th...	OMIM:268300
Macrophage Activation Syndrome	Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce...	ORPHA:158061
Congenital Disorder Of Glycosylation, Type Iic	Short stature, Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Joubert Syndrome 5	Agenesis of cerebellar vermis, Occipital encephalocele, Cleft palate, Aplasia/Hypoplasia of the c...	OMIM:610188
Cog5-Cdg	Wide nasal bridge, Abnormality of the frontal hairline, Lateral ventricle dilatation, Retrognathi...	ORPHA:263487
Lipodystrophy, Familial Partial, Type 3	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar...	OMIM:604367
Ventriculomegaly With Defects Of The Radius And Kidney	Ventriculomegaly, Hydrocephalus, Lateral ventricle dilatation	OMIM:602200
Den Hoed-De Boer-Voisin Syndrome	Ventriculomegaly, Global brain atrophy, Carious teeth, Lateral ventricle dilatation, Yellow-brown...	OMIM:619229
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Orofaciodigital Syndrome Type 6	Highly arched eyebrow, Cerebellar vermis hypoplasia, Broad nasal tip, Failure to thrive, Aplasia/...	ORPHA:2754
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Bangstad Syndrome	Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl...	ORPHA:1227
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N...	OMIM:214500
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Rhizomelic arm shortening, Lymphopenia, Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia,...	ORPHA:508542
Letterer-Siwe Disease	Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia	OMIM:246400
Methylmalonic Acidemia With Homocystinuria Type Cblf	Megaloblastic anemia, Intrauterine growth retardation, Growth delay, Neutropenia	ORPHA:79284
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal corpus callosum morphology, Lateral ventricle dilatation, Supernumerary nipple, Submucou...	ORPHA:457279
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Pancreatiti...	ORPHA:435651
Pagod Syndrome	Microcephaly, Meningocele, Encephalocele, Spina bifida	ORPHA:991
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Intrauterine gro...	OMIM:617052
Cyclic Neutropenia	Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos...	ORPHA:2686
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Noonan Syndrome 14	Sparse eyebrow, Lateral ventricle dilatation, Prominent nasal bridge, Low posterior hairline, Cur...	OMIM:619745
Pmm2-Cdg	Elevated circulating thyroid-stimulating hormone concentration, Hyperplastic labia majora, Increa...	ORPHA:79318
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Ventriculomegaly, Decreased response to growth hormone stimulation test, Hypoplasia of the corpus...	OMIM:617260
Mosaic Trisomy 1	Wide nasal bridge, Depressed nasal bridge, Hypoplastic thumbnail, Cerebellar vermis hypoplasia, M...	ORPHA:1692
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Decreased proportion of class-switched m...	OMIM:614700
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
3-Methylglutaconic Aciduria Type 7	Infection associated neutropenia, Growth delay, Neutropenia	ORPHA:445038
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:603909
Poland Syndrome	Acute leukemia, Encephalocele, Low posterior hairline, Microcephaly, Spina bifida occulta, Neopla...	ORPHA:2911
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Saul-Wilson Syndrome	Short stature, Postnatal growth retardation, Intrauterine growth retardation, Neutropenia	OMIM:618150
Cartilage-Hair Hypoplasia	Neonatal short-limb short stature, Absent pubertal growth spurt, Lymphopenia, Macrocytic anemia, ...	OMIM:250250
Combined Oxidative Phosphorylation Defect Type 39	Abnormal corpus callosum morphology, Lateral ventricle dilatation, Cerebral atrophy, Deep white m...	ORPHA:565624
Shwachman-Diamond Syndrome	Normocytic anemia, Aplastic anemia, Leukemia, Increased mean corpuscular volume, Pancytopenia, Le...	ORPHA:811
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Wide nasal bridge, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Secondary microceph...	OMIM:619306
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Microcephaly, Lateral ventricle dilatation, Small for gestational age	OMIM:619278
Felty Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	ORPHA:47612
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Lateral ventricle dilatation, Micrognathia, Hypoplasia of the corpus callosum, Agenesis of corpus...	OMIM:210710
Autosomal Agammaglobulinemia	Neutropenia	ORPHA:33110
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:251000
6Q Terminal Deletion Syndrome	Highly arched eyebrow, Abnormal cerebral cortex morphology, Failure to thrive, Polymicrogyria, Ob...	ORPHA:75857
Glutaric Acidemia I	Lateral ventricle dilatation, Hydrocephalus, Failure to thrive	OMIM:231670
Congenital Factor Vii Deficiency	Ovarian cyst, Menorrhagia	ORPHA:327
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo...	ORPHA:895
Transcobalamin Ii Deficiency	Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Anemia	OMIM:275350
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil...	OMIM:226990
3P25.3 Microdeletion Syndrome	Depressed nasal bridge, Abnormal thalamus morphology, Prominent nose, Anteverted nares, Micrognat...	ORPHA:435638
Poikiloderma With Neutropenia	Leukopenia, Splenomegaly, Neutropenia, Short stature, Growth delay	OMIM:604173
Genitourinary And/Or Brain Malformation Syndrome	Polymicrogyria, Secondary microcephaly, Micrognathia, Absent septum pellucidum, Agenesis of corpu...	OMIM:618820
Lipe-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog...	ORPHA:435660
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Short stature	OMIM:277380
Wolcott-Rallison Syndrome	Lymphocytosis, Iron deficiency anemia, Neutropenia, Short stature, Growth delay	ORPHA:1667
Aspergillosis	Eosinophilia, Neutropenia	ORPHA:1163
Evans Syndrome	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop...	ORPHA:1959
Keppen-Lubinsky Syndrome	Proptosis, Lateral ventricle dilatation, Failure to thrive, Underdeveloped nasal alae, Narrow nar...	OMIM:614098
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Khan-Khan-Katsanis Syndrome	Highly arched eyebrow, Ventriculomegaly, Pigmentary retinopathy, Trichiasis, Failure to thrive, C...	OMIM:618460
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia	OMIM:620012
Neurofibromatosis, Type I	Inguinal freckling, Neurofibroma, Meningioma, Rhabdomyosarcoma, Pheochromocytoma, Plexiform neuro...	OMIM:162200
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:256710
Vater/Vacterl Association	Choanal atresia, Occipital encephalocele, Failure to thrive, Spina bifida, Abnormal nasopharynx m...	OMIM:192350
Acute Generalized Exanthematous Pustulosis	Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia	ORPHA:293173
Ataxia-Telangiectasia	Failure to thrive, Premature graying of hair, Neoplasm, Multiple cafe-au-lait spots, Hypopigmenta...	ORPHA:100
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Anemia, Acute myeloid leukemia, Neutropenia, Thrombocy...	OMIM:260400
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:177910
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	ORPHA:540
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Delayed puberty, Neutropenia in pr...	OMIM:615952
Koolen-De Vries Syndrome	Wide nasal bridge, Ventriculomegaly, Underdeveloped nasal alae, Aplasia/Hypoplasia of the corpus ...	ORPHA:96169
Schinzel-Giedion Syndrome	Micrognathia, Hypoplasia of the corpus callosum, Hepatoblastoma, Hypertelorism, Sacrococcygeal te...	ORPHA:798
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th...	OMIM:612541
Intellectual Developmental Disorder, Autosomal Dominant 56	Secondary microcephaly, Thin corpus callosum, Lateral ventricle dilatation	OMIM:617854
Semilobar Holoprosencephaly	Depressed nasal ridge, Failure to thrive, Proboscis, Decreased response to growth hormone stimula...	ORPHA:220386
Alobar Holoprosencephaly	Depressed nasal ridge, Failure to thrive, Proboscis, Decreased response to growth hormone stimula...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Depressed nasal ridge, Failure to thrive, Proboscis, Decreased response to growth hormone stimula...	ORPHA:93926
Lobar Holoprosencephaly	Depressed nasal ridge, Failure to thrive, Proboscis, Decreased response to growth hormone stimula...	ORPHA:93924
Immunodeficiency 23	Lymphopenia, Abscess, Eosinophilia, Neutropenia, Hemolytic anemia	OMIM:615816
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Short stature, Intrauterine growth retardation, Neutropenia	OMIM:618005
Progeria-Short Stature-Pigmented Nevi Syndrome	Alopecia, Dental malocclusion, Abnormal thalamus morphology, Neoplasm, Micrognathia, Neoplasm of ...	ORPHA:2959
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal cerebral morphology, Hypopigmentation of hair, Focal T2 hyperintense basal ganglia lesio...	ORPHA:70472
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Small pituitary gland, Lateral ventr...	OMIM:619479
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Highly arched eyebrow, Cerebellar vermis hypoplasia, Failure to thrive, Retrognathia, Narrow nasa...	OMIM:620083
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Lateral ventricle dilatation, Cerebral atrophy, Microcephaly, Primary microcephaly, Small for ges...	OMIM:619847
Autoinflammatory Disease, Systemic, X-Linked	Hepatosplenomegaly, Neutropenia, B lymphocytopenia	OMIM:301081
Hartsfield Syndrome	Hypoplasia of the frontal bone, Alobar holoprosencephaly, Semilobar holoprosencephaly, Hypotelori...	OMIM:615465
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:617303
Pseudo-Torch Syndrome 2	Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Cerebral calcification, Cerebella...	OMIM:617397
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De...	ORPHA:95699
Obesity And Hypopigmentation	Red hair, Obesity	OMIM:620195
Scalp-Ear-Nipple Syndrome	Depressed nasal bridge, Sparse pubic hair, Lateral ventricle dilatation, Fine hair, Breast aplasi...	OMIM:181270
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Xfe Progeroid Syndrome	Defective DNA repair after ultraviolet radiation damage, Premature ovarian insufficiency	OMIM:610965
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Depressed nasal bridge, Ventriculomegaly, Micrognathia, Agenesis of corpus callosu...	ORPHA:93271
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Depressed nasal bridge, Cerebral cortical atrophy, Lateral ventricle dilatation, Small nail, Seco...	OMIM:300868
Smith-Lemli-Opitz Syndrome	Wide nasal bridge, Depressed nasal bridge, Global brain atrophy, Microretrognathia, Failure to th...	OMIM:270400
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T...	ORPHA:158048
Methylmalonic Aciduria, Cblb Type	Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:251110
Neurodevelopmental Disorder With Language Delay And Seizures	Diffuse cerebral atrophy, Thin corpus callosum, Hypothalamic hamartoma	OMIM:619908
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease...	OMIM:608233
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Obesity, Decreased growth hormone response...	OMIM:609734
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Spontaneous, recurrent epistaxis	OMIM:614072
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Basal cell carcinoma, Hypopigmentation of the skin, White hair, Cutaneous ...	ORPHA:79432
Pigmented Nodular Adrenocortical Disease, Primary, 2	Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci...	OMIM:610475
De Sanctis-Cacchione Syndrome	Defective DNA repair after ultraviolet radiation damage, Gonadal hypoplasia, Bilateral cryptorchi...	OMIM:278800
Methylmalonic Aciduria, Cbla Type	Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:251100
Necrotizing Enterocolitis	Thrombocytopenia, Leukocytosis, Neutropenia	ORPHA:391673
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Neoplasm of the skin, Hypopigmentation of the skin, White hair, Ocular alb...	ORPHA:79435
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Basal cell carcinoma, Hypopigmentation of the skin, Squamous cell carcinom...	ORPHA:79434
Cohen Syndrome	Short stature, Intrauterine growth retardation, Delayed puberty, Neutropenia	ORPHA:193
Vici Syndrome	Depressed nasal bridge, Cerebellar vermis hypoplasia, Hypopigmentation of the skin, Failure to th...	OMIM:242840
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Growth delay, Neutropenia	OMIM:615471
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation, Secondary microcephaly, Abnormal caudate nucleus morphology, Hypopl...	ORPHA:2148
Linear Skin Defects With Multiple Congenital Anomalies 3	Hyperpigmented streaks, Lateral ventricle dilatation, Failure to thrive, Delayed eruption of prim...	OMIM:300952
Shwachman-Diamond Syndrome 2	Short stature, Thrombocytopenia, Normocytic anemia, Neutropenia	OMIM:617941
Revesz Syndrome	Macrocytic anemia, Intrauterine growth retardation, Aplastic anemia, Neutropenia	OMIM:268130
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Abnormality of th...	ORPHA:906
Immunodeficiency With Hyper-Igm, Type 1	Thrombocytopenia, Hemolytic anemia, Splenomegaly, Neutropenia	OMIM:308230
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy, Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Colp...	OMIM:309801
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Trichothiodystrophy	Defective DNA repair after ultraviolet radiation damage, Gonadal dysgenesis, Cryptorchidism, Umbi...	ORPHA:33364
Mccune-Albright Syndrome	Irregular menstruation, Precocious puberty, Increased circulating cortisol level, Increased circu...	ORPHA:562
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Deeply set eye, Cerebellar hemis...	ORPHA:500150
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, T lymphocytopenia, Neutropenia, Short stature, Autoimmune thrombocytopenia	OMIM:607944
Helsmoortel-Van Der Aa Syndrome	Wide nasal bridge, Ventriculomegaly, Broad nasal tip, High anterior hairline, Failure to thrive, ...	OMIM:615873
Leigh Syndrome	Anemia, Intrauterine growth retardation, Growth delay, Neutropenia	ORPHA:506
Aicardi-Goutieres Syndrome 9	Lateral ventricle dilatation, Failure to thrive, Cerebral atrophy, Basal ganglia calcification, C...	OMIM:619487
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	ORPHA:90051
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation, Curly hair	OMIM:256850
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Neutropenia	OMIM:251900
Sim1-Related Prader-Willi-Like Syndrome	Small pituitary gland, Ventriculomegaly, Hypopigmentation of the skin, Failure to thrive, Narrow ...	ORPHA:398079
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro...	ORPHA:3226
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal corpus callosum morphology, Highly arched eyebrow, Trichiasis, Carious teeth, Natal toot...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal corpus callosum morphology, Highly arched eyebrow, Trichiasis, Carious teeth, Natal toot...	ORPHA:353277
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Cessation of head growth, Hypopigmentation of the skin, Secondary microcep...	ORPHA:411511
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Splenomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	ORPHA:37042
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Mhc Class Ii Deficiency 1	Neutropenia	OMIM:209920
Gabriele-De Vries Syndrome	Sparse eyebrow, Broad nasal tip, Lateral ventricle dilatation, Micrognathia, Frontal upsweep of h...	OMIM:617557
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of th...	ORPHA:999
Donohue Syndrome	Precocious puberty, Clitoral hypertrophy, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic ...	OMIM:246200
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An...	ORPHA:2330
Chromosome 1P36 Deletion Syndrome, Distal	Lateral ventricle dilatation, Abnormality of the hairline, Hypoplasia of the corpus callosum, Age...	OMIM:607872
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Leukemia, Hypogonadism, Anemia, Neutropenia, Short stature, Premature ovarian in...	ORPHA:221008
Hermansky-Pudlak Syndrome 10	Splenomegaly, Neutropenia	OMIM:617050
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone...	ORPHA:64739
Bardet-Biedl Syndrome	Irregular menstruation, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreas...	ORPHA:110
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemia, Reticulocytopenia, Neutropen...	OMIM:557000
Alg9-Cdg	Hypoplastic nipples, Hypoplasia of the ovary, Bicornuate uterus	ORPHA:79328
Rothmund-Thomson Syndrome	Aplastic anemia, Leukemia, Anemia, Neutropenia, Short stature, Infertility	ORPHA:2909
Cowden Syndrome 6	Varicocele, Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele tes...	OMIM:615109
Hydranencephaly	Atrophic pituitary gland, Ventriculomegaly, Cerebral cortical atrophy, Abnormal corpus striatum m...	ORPHA:2177
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Micropenis, Decreased testicular size, Hypoplasia of the ovary	OMIM:619321
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:436159
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, Neutropenia, B lymphocytopenia	OMIM:601495
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Cessation of head growth, Hypopigmentation of the skin, Secondary microcep...	ORPHA:98795
Pallister-Hall Syndrome	Depressed nasal bridge, Choanal atresia, Natal tooth, Decreased response to growth hormone stimul...	OMIM:146510
Cowden Syndrome 5	Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid...	OMIM:615108
Fusariosis	Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Lung abscess, Neutropenia	ORPHA:228119
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Cessation of head growth, Hypopigmentation of the skin, Secondary microcep...	ORPHA:98794
Agammaglobulinemia, X-Linked	Prostatitis, Neutropenia, B lymphocytopenia, Anemia, T lymphocytopenia	OMIM:300755
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect	ORPHA:268810
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Hypertelorism	OMIM:618541
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Intrauterine growth retardation, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Growth delay	ORPHA:79282
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Occipital cortical atrophy, Ventriculomegaly, Hypopigmentation of the skin...	ORPHA:98754
Glycogen Storage Disease Ib	Short stature, Delayed puberty, Splenomegaly, Neutropenia	OMIM:232220
Familial Adenomatous Polyposis 4	Thyroid adenoma, Ovarian cyst, Uterine leiomyoma	OMIM:617100
Cartilage-Hair Hypoplasia	Rhizomelia, Spinal dysraphism, Disproportionate short-limb short stature, Neutropenia, Anemia	ORPHA:175
Cowden Syndrome 1	Varicocele, Thyroid adenoma, Goiter, Ovarian cyst, Ovarian carcinoma, Hypothyroidism, Hyperthyroi...	OMIM:158350
Pediatric-Onset Graves Disease	Thrombocytopenia, Intrauterine growth retardation, Splenomegaly, Neutropenia in presence of anti-...	ORPHA:525731
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Craniofacial Microsomia 1	Hypoplasia of the maxilla, Occipital encephalocele, Micrognathia, Branchial anomaly, Agenesis of ...	OMIM:164210
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Basal cell carcinoma, Hypopigmentation of the skin, Ocular albinism, Squam...	ORPHA:79431
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Occipital cortical atrophy, Ventriculomegaly, Hypopigmentation of the skin...	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Occipital cortical atrophy, Ventriculomegaly, Hypopigmentation of the skin...	ORPHA:177904
Intellectual Developmental Disorder, Autosomal Dominant 54	Short stature, Growth delay, Neutropenia	OMIM:617799
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Occipital cortical atrophy, Ventriculomegaly, Hypopigmentation of the skin...	ORPHA:177901
Magel2-Related Prader-Willi-Like Syndrome	Small pituitary gland, Ventriculomegaly, Hypopigmentation of the skin, Failure to thrive, Narrow ...	ORPHA:398069
Osteopetrosis, Autosomal Recessive 7	Lateral ventricle dilatation, Proptosis, Hydrocephalus	OMIM:612301
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Anteverted nares, Prominent nasal bridge, Micrognathia, Hypertelorism, Hyp...	ORPHA:1974
Classic Phenylketonuria	Cerebral calcification, Microcephaly, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Kabuki Syndrome 1	Wide nasal bridge, Highly arched eyebrow, Sparse eyebrow, Prominent eyelashes, Lateral ventricle ...	OMIM:147920
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Irregular menstruation, Anemia, Delayed puberty, Short stature, Abnormal myeloid leukocyte morpho...	ORPHA:79259
Prader-Willi Syndrome	Small pituitary gland, Ventriculomegaly, Hypopigmentation of the skin, Failure to thrive, Decreas...	ORPHA:739
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Cerebral cortical atrophy, Lewy bodies, Lateral ventricle dilatation, Neurofibrillary tangles	OMIM:607485
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Epistaxis, Hypopigmentation of the skin, Ocular albinism, Partial albinism...	ORPHA:79430
Familial Acute Necrotizing Encephalopathy	Cerebral edema, Abnormal thalamus morphology, Abnormal putamen morphology	ORPHA:88619
Xeroderma Pigmentosum, Complementation Group E	Defective DNA repair after ultraviolet radiation damage	OMIM:278740
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Hypopigmented skin patches, Delayed eruption of teeth, Taurodontia, Hyperp...	ORPHA:3214
Pallister-Hall Syndrome	Natal tooth, Hypopituitarism, Hypertelorism, Holoprosencephaly, Abnormal basal ganglia MRI signal...	ORPHA:672
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Thrombocytopenia, Megaloblastic anemia, Neutropenia	OMIM:277400
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Leukemia, Anemia, Neutropenia, Short stature, Growth delay	ORPHA:221016
Smith-Lemli-Opitz Syndrome	Wide nasal bridge, Choanal atresia, Ventriculomegaly, Proptosis, Aplasia/Hypoplasia of the corpus...	ORPHA:818
Whim Syndrome	Abnormal neutrophil morphology, Lymphopenia, Neutropenia	ORPHA:51636
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Rhizomelia, Disproportionate short-limb short stature, Neutropenia	OMIM:271510
Syndromic Diarrhea	Wide nasal bridge, Trichorrhexis nodosa, Hepatoblastoma, Hypertelorism, Uncombable hair, Generali...	ORPHA:84064
Pearson Syndrome	Postnatal growth retardation, Pancytopenia, Reticulocytosis, Splenomegaly, Hypoplastic spleen, Ne...	ORPHA:699
Xeroderma Pigmentosum, Complementation Group C	Defective DNA repair after ultraviolet radiation damage	OMIM:278720
Toxic Epidermal Necrolysis	Anemia, Thrombocytopenia, Neutropenia	ORPHA:537
Genitopatellar Syndrome	Wide nasal bridge, Delayed eruption of teeth, Prominent nose, Prominent nasal bridge, Micrognathi...	OMIM:606170
Degcags Syndrome	Premature graying of hair, Micrognathia, Agenesis of corpus callosum, Low posterior hairline, Hyp...	OMIM:619488
Panhypophysitis	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit...	ORPHA:95513
Congenital Disorder Of Glycosylation, Type Iim	Wide nasal bridge, Lateral ventricle dilatation, Cerebral atrophy, Thick eyebrow, Hypoplasia of t...	OMIM:300896
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Intrauterine growth retardation, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocyt...	OMIM:620565
Hermansky-Pudlak Syndrome 1	Epistaxis, Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-expo...	OMIM:203300
Xeroderma Pigmentosum, Complementation Group A	Defective DNA repair after ultraviolet radiation damage	OMIM:278700
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Adenohypophysitis	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit...	ORPHA:95512
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil...	OMIM:613179
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Autoimmune hemol...	ORPHA:3261
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Depressed nasal bridge, Ocular albinism, Anteverted nares, Microcephaly, S...	ORPHA:2719
Xeroderma Pigmentosum, Complementation Group D	Defective DNA repair after ultraviolet radiation damage	OMIM:278730
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Neutropenia	ORPHA:163956
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation, Thick eyebrow, Short umbilical cord, Hypoplasia of the corpus callo...	OMIM:618367
Selective Igm Deficiency	Decreased proportion of transitional B cells, Cutaneous abscess, Decreased proportion of CD8-posi...	ORPHA:331235
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Anemia, Brain abscess, Liver abscess, Neutrophilia	ORPHA:54251
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Patent ductus arteriosus, Ovarian cyst, Umbilical hernia	OMIM:618188
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly	OMIM:601374
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Hamartoma of tongue, Pachygyria, Clef...	OMIM:263520
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Lateral ventricle dilatation, Secondary microcephaly, Hypoplasia of the corpus callosum, Agenesis...	ORPHA:261537
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Delayed puberty,...	ORPHA:391487
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hypoplastic anterior commissure, Lateral ventricle dilatation, Secondary microcephaly, Hypoplasia...	ORPHA:261552
Kikuchi-Fujimoto Disease	Leukopenia, Splenomegaly, Lymphocytosis, Neutropenia, Thrombocytopenia, Anemia	ORPHA:50918
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst	ORPHA:454840
Japanese Encephalitis	Abnormality of the internal capsule, Abnormal thalamus morphology, Abnormal substantia nigra morp...	ORPHA:79139
Zygomycosis	Brain abscess, Splenic abscess, Neutropenia	ORPHA:73263
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hepatosplenomegaly, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hypersple...	ORPHA:228426
3-Methylglutaconic Aciduria, Type Viii	Growth delay, Neutropenia	OMIM:617248
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Spina bifida occulta, Transient neutropenia, Chronic neutropenia	ORPHA:500095
Glycogen Storage Disease Ic	Cyclic neutropenia, Delayed puberty	OMIM:232240
Peutz-Jeghers Syndrome	Uterine neoplasm, Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor	OMIM:175200
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ...	OMIM:201750
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Wide nasal bridge, Hypopigmented skin patches, Underdeveloped nasal alae, Premature graying of ha...	ORPHA:163746
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of...	OMIM:203100
Biliary, Renal, Neurologic, And Skeletal Syndrome	Depressed nasal bridge, Frontotemporal cerebral atrophy, Failure to thrive, Lateral ventricle dil...	OMIM:619534
Microphthalmia, Syndromic 3	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Hypothalamic hamart...	OMIM:206900
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Menkes Disease	Sparse hair, Umbilical hernia, Micrognathia, Microcephaly, Exostoses, Hypopigmentation of hair, W...	ORPHA:565
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia	OMIM:617107
Norrie Disease	Cerebral cortical atrophy, Failure to thrive, Narrow nasal bridge, Hypotelorism, Deeply set eye, ...	ORPHA:649
Sponastrime Dysplasia	Intrauterine growth retardation, Rhizomelia, Disproportionate short-limb short stature, Neutropenia	ORPHA:93357
Brittle Cornea Syndrome	Abnormality of hair pigmentation, Cleft palate	ORPHA:90354
Choreoacanthocytosis	Cerebral cortical atrophy, Temporomandibular joint crepitus, Lateral ventricle dilatation, Small ...	ORPHA:2388
Aspartylglucosaminuria	Short stature, Vacuolated lymphocytes, Neutropenia	OMIM:208400
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anemia, Neutropenia	ORPHA:95455
Williams Syndrome	Wide nasal bridge, Cerebral cortical atrophy, Carious teeth, Dental malocclusion, Hypoplasia of t...	ORPHA:904
Cystinosis, Nephropathic	Pigmentary retinopathy, Hypopigmentation of the skin, Failure to thrive, Retinal pigment epitheli...	OMIM:219800

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

Order Mouse and ES Cells

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Tet1 MGI:1098693

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

DSS Histology

Anti-nuclear antibody assay

Eye Morphology

X-ray

X-ray

X-ray

X-ray

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Tet1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data