Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

3 Images

Anti-nuclear antibody assay

Images

9 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

3 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

X-ray

XRay Images Forepaw

3 Images

X-ray

XRay Images Skull Lateral Orientation

3 Images

Eye Morphology

Images Slit Lamp

2 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 121 images

Human diseases caused by Tet1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Tet1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
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
Cognitive impairment, Dementia OMIM:618564
Schizophrenia 19
Cognitive impairment OMIM:617629
Bifid Nose
Hypertelorism ORPHA:2695
Nf1-Microdeletion syndrome
Hypertelorism, Neurofibroma DECIPHER:15
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Parietal Foramina 2
Depressed nasal bridge, Hypertelorism, Wide nasal ridge, Encephalocele OMIM:609597
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Small nail, Hydrocephalus, Mandibular prognathia, Non-mi... ORPHA:1908
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
Chromosome 16P11.2 Deletion Syndrome, 593-Kb
Micrognathia, Hypertelorism OMIM:611913
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Frontal Encephalocele
Encephalocele, Hydrocephalus, Cerebral calcification, Spina bifida, Aplasia/Hypoplasia of the cor... ORPHA:1931
Pseudoprogeria Syndrome
Convex nasal ridge, Narrow nasal tip, Absent eyelashes, Decreased body weight, Absent eyebrow, Mi... ORPHA:2985
Frontonasal Dysplasia 1
Short columella, Frontal cutaneous lipoma, Bifid nasal tip, Anterior basal encephalocele, Median ... OMIM:136760
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Encephalocele, Absent eyelashes, Absent eyebrow, Microcephaly, Convex nasal ridge OMIM:200130
Diprosopus
Abnormality of the nose, Anencephaly, Non-midline cleft of the upper lip, Cleft palate, Abnormali... ORPHA:1681
Anencephaly 2
Bifid nose, Cleft maxillary alveolar ridge, Anencephaly, Median cleft palate OMIM:619452
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Micrognathia, Cleft palate, Agenesis of corpus callosum, Ventriculome... OMIM:614120
Frontofacionasal Dysplasia
Tessier cleft, Hypoplasia of the corpus callosum, Short nose, Encephalocele, Non-midline cleft of... ORPHA:1791
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the corpus callosum, Hydranencephaly, Microcephaly, Cerebral cortical atrop... ORPHA:2570
Oculoauriculofrontonasal Syndrome
Encephalocele, Wide nose, Bifid nasal tip, Microcephaly, Micrognathia, Cleft palate, Pericallosal... ORPHA:398156
Schisis Association
Anencephaly, Encephalocele, Spina bifida, Microcephaly, Cleft palate, Unilateral cleft lip, Small... ORPHA:63862
Isolated Dandy-Walker Malformation
Dandy-Walker malformation, Aplasia/Hypoplasia of the corpus callosum, Cleft palate, Encephalocele ORPHA:217
Pallister-Hall-Like Syndrome
Occipital encephalocele, Short nose, Anterior hypopituitarism, Hydrocephalus, Hypothalamic hamart... OMIM:241800
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Cerebellar agenesis... OMIM:617967
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Neural Tube Defects, Susceptibility To
Anencephaly, Spina bifida occulta, Lipoma, Hydrocephalus, Myelomeningocele, Multiple lipomas OMIM:182940
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Anterior pituitary hypoplasia, Choroid plexus cyst, Bifid nasal tip, ... ORPHA:1827
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... ORPHA:2232
Lissencephaly 5
Hypoplasia of the corpus callosum, Occipital encephalocele, Hydrocephalus, Cerebellar vermis hypo... OMIM:615191
Microhydranencephaly
Hydranencephaly, Proptosis, Microcephaly, Prominent nasal bridge, Agenesis of corpus callosum, Ce... OMIM:605013
Unilateral Ocular Duplication
Encephalocele, Midline facial cleft, Abnormal eyebrow morphology, Cleft palate, Hypertelorism ORPHA:3374
Anophthalmia Plus Syndrome
Tessier cleft, Non-midline cleft of the upper lip, Bilateral cleft palate, Choanal atresia, Spina... ORPHA:1104
Hartsfield Syndrome
Encephalocele, Non-midline cleft of the upper lip, Lobar holoprosencephaly, Cleft palate, Aplasia... ORPHA:2117
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Calcification of falx cerebri, Bifid nasal tip, Midline central nervous s... OMIM:603671
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Dysgyria, Type II lissencephaly, Abnormal cerebral white ... ORPHA:352682
Craniotelencephalic Dysplasia
Hypotelorism, Lissencephaly, Optic nerve hypoplasia, Agenesis of corpus callosum, Cerebellar hypo... OMIM:218670
Alg13-Cdg
Abnormal lateral ventricle morphology, Global brain atrophy, Anteverted nares, Decreased body wei... ORPHA:324422
Pai Syndrome
Midline defect of the nose, Encephalocele, Nasal polyposis, Midline central nervous system lipoma... ORPHA:1993
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Holoprosencephaly 5
Semilobar holoprosencephaly, Orofacial cleft, Hypotelorism, Alobar holoprosencephaly, Hydrocephal... OMIM:609637
Hydrolethalus
Retrognathia, Anencephaly, Hydrocephalus, Micrognathia, Cleft palate, Unilateral cleft lip, Agene... ORPHA:2189
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Orofacial cleft, Hydrocephalus, Type II lissencephaly, Ventriculomegaly ORPHA:324416
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar... OMIM:611548
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Cleft ala nasi, Dandy-Walker malformation, Orbital encephaloce... OMIM:164180
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Wide nose, Abnormal nasal bone morphology, Bifid nasal tip, Choanal atresia, Agenesis of corpus c... ORPHA:521308
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft of the upper lip, Cleft palate, Anencephaly, Spina bifida ORPHA:2476
Frontonasal Dysplasia 2
Bifid nasal tip, Microcephaly, Aplasia of the nasal bone, Sparse hair, Fine hair, Encephalocele, ... OMIM:613451
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Scalp Defects-Postaxial Polydactyly Syndrome
Sparse scalp hair, Encephalocele ORPHA:1003
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Short stature, Neutropenia ORPHA:90023
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-... OMIM:611134
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, Abnormal hair morphology, Ethmoidal encephalocele, Hyperpigmented nevi, Optic nerv... 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
Synophrys, Microcephaly, Cerebral cortical atrophy, Micrognathia, Cerebral white matter hypoplasi... ORPHA:3207
Polyrrhinia
Orofacial cleft, Abnormal nasal bone morphology, Abnormal external nose morphology, Abnormal thir... ORPHA:141091
Duplication Of The Pituitary Gland
Retrognathia, Supernumerary tooth, Encephalocele, Teratoma, Abnormal pituitary gland morphology, ... ORPHA:314621
Craniotelencephalic Dysplasia
Lissencephaly, Hydrocephalus, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, C... ORPHA:1528
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Microcephaly, Cleft palate, Underdeveloped nasal alae, Hydranencephaly OMIM:601355
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Polymicrogyria, Microcephaly, Microgna... OMIM:225790
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Anteverted nares, Underdeveloped nasal alae, Agenesis of cerebellar vermis, Bifid ... ORPHA:228390
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Frontorhiny
Encephalocele, Pericallosal lipoma, Midline nasal groove, Hypoplasia of the maxilla, Basal enceph... ORPHA:391474
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft palate, Neural tube defect, Bilateral cleft lip OMIM:600776
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Dyspareunia, Hypoplasia of the vagina, Prima... ORPHA:3109
Distal Deletion 13Q
Anencephaly, Encephalocele, Microcephaly, Holoprosencephaly, Aplasia/Hypoplasia of the corpus cal... ORPHA:1590
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Lissencephaly 8
Hypoplasia of the corpus callosum, Occipital encephalocele, Polymicrogyria, Type II lissencephaly... OMIM:617255
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Lissencephaly 4
Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Cerebellar hypoplasia, Lisse... OMIM:614019
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Dandy-Walker malformation, Dilated fourth ventricle, Cleft ... OMIM:614175
Immunodeficiency 50
Neutropenia, Lymphopenia 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
Dandy-Walker malformation, Hypertelorism, Encephalocele OMIM:614465
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele, Benign neoplasm of the central nervous system ORPHA:261102
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Frontonasal Dysplasia 3
Tessier cleft, Absent eyebrow, Sparse eyelashes, Cleft palate, Hypertelorism, Wide nasal bridge, ... OMIM:613456
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Anterior encephalocele, Bilateral cleft palate, Holoprosencephaly, Bilateral cleft... OMIM:601357
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Meckel Syndrome, Type 8
Occipital encephalocele, Short nose, Encephalocele, Depressed nasal ridge, Microcephaly, Cleft pa... OMIM:613885
Chromosome 13Q33-Q34 Deletion Syndrome
Advanced eruption of teeth, Anencephaly, Encephalocele, Delayed eruption of teeth, Low hanging co... OMIM:619148
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Agenesis of cerebellar vermis OMIM:213010
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Oculocerebrocutaneous Syndrome
Hypopigmented skin patches, Tessier cleft, Orofacial cleft, Hydrocephalus, Dandy-Walker malformat... ORPHA:1647
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Meckel Syndrome, Type 2
Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, Cleft palate OMIM:603194
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Parietal Foramina 3
Encephalocele OMIM:609566
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Joubert Syndrome 14
Hypoplasia of the corpus callosum, Encephalocele, Meningocele, Highly arched eyebrow, Dandy-Walke... OMIM:614424
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Dk Phocomelia Syndrome
Encephalocele OMIM:223340
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Narrow nasal ridge, Anteverted nares, Choanal stenosis, Microretrognathia, Cereb... OMIM:236500
Parietal Foramina 1
Cleft palate, Encephalocele OMIM:168500
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Short stature, Neutropenia OMIM:610798
Septopreoptic Holoprosencephaly
Megalencephaly, Anterior hypopituitarism, Abnormal septum pellucidum morphology, Ethmoidal enceph... ORPHA:280195
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Microcephaly, Micrognathia, Cleft palate, Broad nasal tip, Bifid nose, Hypertelorism OMIM:239800
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Meningocele, Polymicrogyria, Myelomeningocele... ORPHA:101030
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Cocaine Embryofetopathy
Encephalocele ORPHA:1911
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Hypoplasia of the frontal bone, Sparse eyelashes, Hypoplasia of the maxilla, Spars... ORPHA:306542
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hydrocephalus, Optic nerve hypoplasia, Type II lissencephaly, Polymicrog... ORPHA:370959
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Fanconi Anemia, Complementation Group G
Anemia, Growth delay, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Meckel Syndrome, Type 5
Occipital encephalocele, Cleft palate, Anencephaly OMIM:611561
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Meckel Syndrome 13
Occipital encephalocele, Micrognathia, Cerebellar hypoplasia OMIM:617562
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Proptosis, Holoprosencephaly, Ventriculomegaly, Depressed nasal bridge ORPHA:93274
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Oculomaxillofacial Dysostosis
Tessier cleft, Abnormality of the nose, Sparse or absent eyelashes, Abnormal eyelash morphology, ... ORPHA:1794
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology, Wide nose, Cerebellar h... ORPHA:488635
Joubert Syndrome 18
Occipital encephalocele, Retrognathia, Cleft palate, Agenesis of cerebellar vermis, Agenesis of c... OMIM:614815
Leber Congenital Amaurosis
Aplasia/Hypoplasia of the cerebellar vermis, Abnormality of retinal pigmentation, Encephalocele ORPHA:65
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Acrofacial Dysostosis, Catania Type
Tessier cleft, Short nose, Spina bifida occulta, Microcephaly, Carious teeth, Abnormal hair patte... ORPHA:1786
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Thin corpus callosum, Highly arched eyebrow, Cerebral calcification, Corpus callosum atrophy, Mic... OMIM:620371
Griscelli Syndrome
Premature graying of hair, Hypopigmented skin patches, Encephalocele, Silver-gray hair, Hydroceph... ORPHA:381
Meckel Syndrome, Type 9
Occipital encephalocele OMIM:614209
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Microlissencephaly, Hypoplasia of the brainstem, Failure to th... OMIM:617090
Joubert Syndrome With Renal Defect
Orofacial cleft, Encephalocele, Highly arched eyebrow, Hydrocephalus, Cerebellar vermis hypoplasi... ORPHA:220497
Leopard Syndrome 1
Delayed puberty, Hypospadias, Spina bifida occulta, Hypoplasia of the ovary, Delayed menarche, Cr... OMIM:151100
Congenital Hydrocephalus
Abnormal cortical gyration, Lissencephaly, Hydrocephalus, Small cerebral cortex, Colpocephaly, Ve... ORPHA:2185
Holoprosencephaly
Spinal cord tumor, Highly arched eyebrow, Anosmia, Microcephaly, Absent nares, Bilateral cleft li... ORPHA:2162
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Cleft palate, Multiple exostoses, Encephalomalacia ORPHA:60015
Trisomy 18
Short nose, Cyclopia, Anencephaly, Non-midline cleft of the upper lip, Cachexia, Choanal atresia,... ORPHA:3380
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Abnormal hypotha... OMIM:614963
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Ab... ORPHA:397715
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Small pituitary gland, Hydrocephalus, Ventriculomegaly, Hypertelorism OMIM:614195
Joubert Syndrome 9
Ventriculomegaly, Encephalocele OMIM:612285
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Growth delay, Short stature, Neutropenia OMIM:612563
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hypoplasia of the corpus callosum, Anencephaly, Hydrocephalus, Cerebellar vermis hypoplasia, Poly... OMIM:616546
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Growth delay, Short stature, Neutropenia OMIM:612527
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... ORPHA:243
Joubert Syndrome
Orofacial cleft, Encephalocele, Highly arched eyebrow, Cerebellar vermis hypoplasia, Hydrocephalu... ORPHA:475
Adams-Oliver Syndrome 2
Cerebral atrophy, Small nail, Hydrocephalus, Polymicrogyria, Microcephaly, Micrognathia, Low ante... OMIM:614219
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Increased female libido, Absence of secondary sex characteristics, Hypoplasia of... ORPHA:432
Limb-Mammary Syndrome
Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, Absent nipple, Hypohidrosis, Bilatera... ORPHA:69085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the corpus callosum, Retrognathia, Encephalocele, Lissencephaly, Hydrocephalus, Dan... OMIM:614643
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Joubert Syndrome With Ocular Defect
Orofacial cleft, Encephalocele, Highly arched eyebrow, Hydrocephalus, Cerebellar vermis hypoplasi... ORPHA:220493
Meckel Syndrome, Type 11
Occipital encephalocele OMIM:615397
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hydrocephalus, Hirsutism, Proptosis, Microcephaly, Micrognathia, Cleft palate, Wid... ORPHA:1865
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Sarcoma, Pancreatic ade... OMIM:606719
Frasier Syndrome
Ambiguous genitalia, male, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Primary am... ORPHA:347
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, Neutropenia OMIM:615285
Supernumerary Nostril
Tessier cleft, Supernumerary naris, Choanal atresia ORPHA:141096
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Iniencephaly
Orofacial cleft, Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Mandibular... ORPHA:63259
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short nose, Anteverted nares, Abnormal periventricular white matter morphology, Dilated fourth ve... OMIM:613443
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Nail dystrophy, Advanced eruption of teeth, Toenail dysplasia, Small nail, Abnorma... ORPHA:952
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Cerebrooculonasal Syndrome
Hypoplasia of the corpus callosum, Short nose, Proboscis, Encephalocele, Hydrocephalus, Dandy-Wal... OMIM:605627
Pentalogy Of Cantrell
Orofacial cleft, Anencephaly, Encephalocele, Hydrocephalus, Non-midline cleft of the upper lip, C... ORPHA:1335
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Aprosencephaly Syndrome
Anencephaly, Aprosencephaly OMIM:207770
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,... OMIM:194072
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Hemochromatosis, Type 3
Anemia, Impotence, Lymphopenia, Amenorrhea, Hypogonadotropic hypogonadism, Neutropenia OMIM:604250
Holoprosencephaly-Postaxial Polydactyly Syndrome
Orofacial cleft, Cyclopia, Absent nares, Hypotelorism, Encephalocele, Hydrocephalus, Microcephaly... ORPHA:2166
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus, Hirsutism, Shallow orbits, Micrognathia, Cleft palate OMIM:224400
Cerebrooculonasal Syndrome
Abnormal nostril morphology, Tessier cleft, Sparse eyelashes, Sparse eyebrow, Hypertelorism ORPHA:66625
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Treacher-Collins Syndrome
Tessier cleft, Retrognathia, Encephalocele, Abnormal hair morphology, Abnormal dental enamel morp... ORPHA:861
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia OMIM:615214
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Pelvis-Shoulder Dysplasia
Facial hirsutism, Hydranencephaly, Hydrocephalus, Spina bifida, Micrognathia, Cleft palate ORPHA:2839
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Short nose, Hypopigmentation of hair, Abno... ORPHA:894
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Ziegler-Huang Syndrome
Macrocytic anemia, Persistence of hemoglobin F, Growth delay, Hypogonadism, Intrauterine growth r... OMIM:620501
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... OMIM:233420
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Cerebral atrophy, Retrognathia, Hypoplasia of the corpus callosum, Hypotelorism, Hydrocephalus, P... OMIM:620156
Mosaic Trisomy 9
Tessier cleft, Hypotelorism, Small nail, Dandy-Walker malformation, Spina bifida, Microcephaly, M... ORPHA:99776
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Frontofacionasal Dysplasia
Orofacial cleft, Midline defect of the nose, Short nose, Frontal cutaneous lipoma, Hypoplasia of ... OMIM:229400
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Meckel Syndrome, Type 3
Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation, Cleft palate OMIM:607361
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Low posterior hairline, Synophrys, Interhypothalamic adhesion, Agenesis of corpus callosum, Deepl... OMIM:618929
Dystonia 30
Globus pallidus hypointensity on susceptibility-weighted imaging, Diffuse cerebral atrophy, Hypot... OMIM:619291
Ring Chromosome 13 Syndrome
Anencephaly, Retinoblastoma, Anteverted nares, Cafe-au-lait spot, Abnormality of skin pigmentatio... ORPHA:96176
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Anterior hypopituit... ORPHA:2235
Joubert Syndrome With Oculorenal Defect
Encephalocele, Highly arched eyebrow, Cerebellar vermis hypoplasia, Hydrocephalus, Anteverted nar... ORPHA:2318
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Multiple Self-Healing Squamous Epithelioma, Susceptibility To
Self-healing squamous epithelioma, Hypertelorism OMIM:132800
Meckel Syndrome, Type 6
Hydrocephalus, Occipital encephalocele, Cleft palate, Anencephaly OMIM:612284
Mycophenolate Mofetil Embryopathy
Tessier cleft, Orofacial cleft, Hydrocephalus, Micrognathia, Bifid nose, Agenesis of corpus callo... ORPHA:268249
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Lissencephaly, Cerebellar vermis hypoplasia, Cerebral white ma... ORPHA:284417
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Encephalocele, Polymicrogyria, Proptosis, Depressed nasal ridge, Abno... ORPHA:2211
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Pontocerebellar Hypoplasia, Type 12
Cerebral atrophy, Hypoplasia of the brainstem, Cerebral hypoplasia, Micrognathia, Lateral ventric... OMIM:618266
Joubert Syndrome 2
Encephalocele, Hydrocephalus, Abnormal corpus callosum morphology, Failure to thrive, Enlarged fo... OMIM:608091
Band Heterotopia
Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, Lateral ventricle dilatation, Subcort... OMIM:600348
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Polycystic ovaries, Decreased fertility, Hypogonadotropic hypogonadism ORPHA:1643
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... ORPHA:3130
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular leukomalacia, Short nose, Medial flaring of the eyebrow, Thin corpus callosum, Hy... OMIM:619833
Limb Body Wall Complex
Short umbilical cord, Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Choanal at... ORPHA:2369
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Short nose, Thin corpus callosum, Microcephaly, Cleft palate, Broad nasal tip, Lateral ventricle ... OMIM:615716
Cousin Syndrome
Facial hirsutism, Hydranencephaly, Hydrocephalus, Micrognathia, Cleft palate, Low anterior hairli... OMIM:260660
Coach Syndrome 1
Occipital encephalocele, Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Aplasia/H... OMIM:216360
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Adams-Oliver Syndrome
Periventricular leukomalacia, Hypoplastic fingernail, Encephalocele, Aplastic/hypoplastic toenail... ORPHA:974
Joubert Syndrome 7
Abnormal corpus callosum morphology, Hypoplasia of the brainstem, Encephalocele OMIM:611560
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the corpus callosum, Cavum septum pellucidum, Polymicrogyria, Cortical dysplasia, A... ORPHA:300573
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele OMIM:614416
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Vacterl/Vater Association
Occipital encephalocele, Anencephaly, Non-midline cleft of the upper lip, Cleft palate, Cavernous... ORPHA:887
Cerebrocostomandibular Syndrome
Hydranencephaly, Meningocele, Cerebral calcification, Porencephalic cyst, Myelomeningocele, Spina... ORPHA:1393
Microcephalic Primordial Dwarfism, Toriello Type
Intrauterine growth retardation, Severe short stature, Neutropenia ORPHA:2643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Type II lissencep... OMIM:615287
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Neutropenia, Absent circulating B cells OMIM:613501
Meckel Syndrome
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Depressed nasal ridge, Micr... ORPHA:564
Otopalatodigital Syndrome Type 2
Short nose, Encephalocele, Hydrocephalus, Myelomeningocele, Failure to thrive, Micrognathia, Clef... ORPHA:90652
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Short nose, Hydrocephalus, Anteverted nares, Proptosis, Long e... OMIM:618577
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Small nail, Polymicrogyria, Anteverted nares, Microcephaly, Colpocephaly, Cerebellar hypoplasia, ... OMIM:618731
Martsolf Syndrome 2
Hypoplasia of the corpus callosum, Decreased body weight, Microcephaly, Broad nasal tip, Lateral ... OMIM:619420
Blepharocheilodontic Syndrome 1
Nail dysplasia, High anterior hairline, Neural tube defect, Small nail, Choanal atresia, Distichi... OMIM:119580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Type II lissencephaly, Microcephaly, Cleft palate, Partial absence ... OMIM:613150
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:603552
Acalvaria
Hydrocephalus, Spina bifida, Cleft palate, Holoprosencephaly, Hypertelorism, Aplasia/Hypoplasia o... ORPHA:945
Craniopharyngioma
Enlarged pituitary gland, Hydrocephalus, Cerebral calcification, Pituitary hypothyroidism, Abnorm... ORPHA:54595
Pseudotrisomy 13 Syndrome
Cyclopia, Hypotelorism, Encephalocele, Hydrocephalus, Polymicrogyria, Median cleft palate, Microc... OMIM:264480
Short-Rib Thoracic Dysplasia 12
Anencephaly, Hydrocephalus, Hypoplastic nipples, Median cleft palate, Natal tooth, Holoprosenceph... OMIM:269860
Isolated Arrhinia
Tessier cleft, Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Absent nasal s... ORPHA:1134
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Hypotelorism, Anencephaly, Hydrocephalus, Dandy-Walker m... OMIM:249000
Pontocerebellar Hypoplasia, Type 13
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Antev... OMIM:618606
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Fraser Syndrome 1
Tessier cleft, Abnormal cortical gyration, Encephalocele, Small nail, Hydrocephalus, Cleft ala na... OMIM:219000
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Hypopigmentation of hair, Anteverted nares, Depressed nasal ridge, Generalized hyperp... ORPHA:1355
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Proptosis, Choanal atresia, Melanocytic nevus, Hypertelorism OMIM:612247
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Wide nasal bridge, Pachygyria OMIM:614870
Alexander Disease Type I
Abnormal thalamic MRI signal intensity, Focal T2 hyperintense basal ganglia lesion, Hydrocephalus... ORPHA:363717
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Anemia, Intrauterine growth retardation, Neutropenia OMIM:617056
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Dandy-Walker malformation, Sparse eyebrow, Natal tooth, Cleft palate, Microretrogn... OMIM:616300
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Orofacial cleft, Aplasia/Hypoplasia of the corpus callosum, Highly arche... ORPHA:1454
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Craniosynostosis 6
Spina bifida occulta, Dandy-Walker malformation, Microcephaly, Low anterior hairline, Agenesis of... OMIM:616602
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Intellectual Developmental Disorder, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Low hanging columella, Highly arched eyebrow, Cerebellar vermi... OMIM:617751
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Dandy-Walker malformation, Optic nerve hypoplasia, Microcephaly, Hypoplasia... OMIM:618736
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate OMIM:600251
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Broad eyebrow, Highly arched eyebrow, Hirsutism, Dilated third ventricle, Wooll... OMIM:619244
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the corpus callosum, Retrognathia, Low hanging columella, Highly arched eyebrow, Hy... OMIM:620157
Holoprosencephaly 7
Bilateral cleft palate, Shallow orbits, Microcephaly, Unilateral cleft lip, Hypoplasia of the pre... OMIM:610828
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the corpus callosum, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformat... OMIM:236670
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:620481
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Lissencephaly, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Agyria, Hypop... OMIM:253800
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Neu-Laxova Syndrome 1
Short umbilical cord, Small placenta, Wide nose, Hydranencephaly, Lissencephaly, Dandy-Walker mal... OMIM:256520
Dyssegmental Dysplasia, Silverman-Handmaker Type
Microcephaly, Occipital encephalocele, Micrognathia, Wide nasal bridge OMIM:224410
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Retrognathia, Large for gestational age, Small nail, Absent eyelashes... ORPHA:544488
2,4-Dienoyl-Coa Reductase Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Failure to thri... OMIM:616034
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Proptosis, Microcephaly, Cleft palate, Holoprosencephaly, Abnormality of the diencephal... ORPHA:2165
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Hypoplasia of the corpus callosum, Short nose, Thin corpus callosum, Anteverted nares, Microcepha... OMIM:614105
Fanconi Anemia, Complementation Group V
Short stature, Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification ORPHA:73256
Holoprosencephaly 1
Tessier cleft, Cyclopia, Hypotelorism, Proboscis, Alobar holoprosencephaly, Median cleft palate, ... OMIM:236100
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, Abnormal dental enamel morphology, Mandibular prognathia, Anteverted nares, Abnorm... ORPHA:2180
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Neutropenia OMIM:613502
Thoracoabdominal Syndrome
Hydrocephalus, Cleft palate, Anencephaly OMIM:313850
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... ORPHA:250972
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abscess, Abnormal CD... OMIM:150550
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Meckel Syndrome 14
Occipital encephalocele, Retrognathia, Anteverted nares, Micrognathia, Holoprosencephaly, Microre... OMIM:619879
Bainbridge-Ropers Syndrome
Retrognathia, Inferior cerebellar vermis hypoplasia, Highly arched eyebrow, Proptosis, Microcepha... OMIM:615485
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Short stature, Neutropenia OMIM:618752
Leukoencephalopathy With Vanishing White Matter 5
Megalencephaly, Dilated third ventricle, Abnormal cerebral white matter morphology, Lateral ventr... OMIM:620315
Unilateral Hemispheric Polymicrogyria
Cortical dysplasia, Thick cerebral cortex, Lateral ventricle dilatation, Cerebral hypoplasia ORPHA:101071
Intellectual Developmental Disorder, X-Linked 103
Polymicrogyria, Anteverted nares, Lateral ventricle dilatation OMIM:300982
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Infertility, Oligomenorrhea, Polycy... ORPHA:280356
Nut Midline Carcinoma
Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom... ORPHA:443167
Alg2-Cdg
Hypoplasia of the corpus callosum, Abnormal basal ganglia MRI signal intensity, Microcephaly, Lat... ORPHA:79326
Joubert Syndrome 8
Occipital encephalocele, Obesity, Pigmentary retinopathy OMIM:612291
Autosomal Recessive Spastic Paraplegia Type 11
Hypoplasia of the corpus callosum, Focal T2 hyperintense basal ganglia lesion, Frontal cortical a... ORPHA:2822
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Frias Syndrome
Micrognathia, Hypertelorism, Proptosis OMIM:609640
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Atelosteogenesis, Type I
Short nose, Encephalocele, Proptosis, Micrognathia, Cleft palate, Hypertelorism, Depressed nasal ... OMIM:108720
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Umbilical hernia, Abnor... OMIM:169400
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Hypoplasia of the corpus callosum, Retrognathia, Secondary microcephaly, Medial flaring of the ey... OMIM:620113
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Subcortical cerebral atrophy, Hypopigmentati... ORPHA:33445
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Retrognathia, Periventricular leukomalacia, Cleft soft palate, Choroid plexus cyst, Prominent nas... ORPHA:293725
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Growth delay, Thrombocytopenia, Anemia, Neutropenia ORPHA:289916
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Whim Syndrome 1
Neutropenia OMIM:193670
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thin corpus callosum, Reduced cerebral white matter volume, Synophrys, Curly hair, Sparse eyebrow... OMIM:620075
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Abnormal T cell count, Thrombocyt... OMIM:308240
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Aicardi Syndrome
Lipoma, Microcephaly, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Anteverted nare... OMIM:304050
Waardenburg Syndrome, Type 1
Premature graying of hair, Orofacial cleft, Mandibular prognathia, Underdeveloped nasal alae, Het... OMIM:193500
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Hypoplasia of the corpus callosum, Spina bifida occulta, Cerebellar vermis hypoplasia, Cerebral c... OMIM:618291
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Basal ganglia ... ORPHA:79243
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Childhood-onset truncal obesity, Red hair,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Childhood-onset truncal obesity, Red hair,... ORPHA:71526
Prader-Willi Syndrome Due To Translocation
Retrognathia, Stellate iris, Hypopigmentation of the skin, Proptosis, Microcephaly, Lateral ventr... ORPHA:177907
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ... OMIM:618986
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Dysgyria, Abnormality of the internal capsule, Abnormal thalamus mo... ORPHA:467166
Hydrolethalus Syndrome 1
Midline defect of the nose, Abnormal cortical gyration, Anencephaly, Dandy-Walker malformation, M... OMIM:236680
Arachnoid Cyst
Encephalocele, Hydrocephalus, Posterior fossa cyst at the fourth ventricle, Enlarged fossa interp... ORPHA:2356
Joubert Syndrome 3
Thin corpus callosum, Highly arched eyebrow, Cerebellar vermis hypoplasia, Anteverted nares, Fron... OMIM:608629
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Sparse lateral eyebrow, Microcephaly, Colpocephaly, Agenesis of corpu... OMIM:619955
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Hep... ORPHA:158057
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Growth delay, Agranulocytosis, ... OMIM:301078
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormality of the nose, Hypopigmentation of hair, Synophrys, White fo... ORPHA:897
Joubert Syndrome 21
Hypoplasia of the corpus callosum, Occipital encephalocele, Single naris, Encephalocele, Hypertel... OMIM:615636
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Retrognathia, Abnormality of the frontal hairline, Focal white matter... ORPHA:557003
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Orofacial cleft, Hypopigmentation of hair,... ORPHA:3440
Constricting Bands, Congenital
Tessier cleft, Cleft palate, Encephalocele OMIM:217100
Distal Deletion 10Q
Short nose, Inferior cerebellar vermis hypoplasia, Hypotelorism, Spina bifida occulta, Cavum sept... ORPHA:96148
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size... ORPHA:3085
Knobloch Syndrome 1
Cerebral atrophy, Iris transillumination defect, Alopecia of scalp, Occipital encephalocele, Spin... OMIM:267750
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft, Mandibular prognathia, Microcephaly, Hypertelorism, Supernumerary nipple ORPHA:1236
Adams-Oliver Syndrome 1
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Encephalocele, Small nail, Polym... OMIM:100300
Congenital Disorder Of Deglycosylation 2
Thin corpus callosum, Highly arched eyebrow, Cerebellar vermis hypoplasia, Polymicrogyria, Hypoth... OMIM:619775
Global Developmental Delay With Or Without Impaired Intellectual Development
Bulbous nose, Hypotelorism, Lateral ventricle dilatation OMIM:618330
Severe X-Linked Intellectual Disability, Gustavson Type
Short nose, Dandy-Walker malformation, Dilated fourth ventricle, Microcephaly, Micrognathia, Late... ORPHA:3078
Bartsocas-Papas Syndrome 1
Tessier cleft, Short nose, Small nail, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Hypop... OMIM:263650
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Cervix cancer, Hypospadias, Azoospermi... ORPHA:1772
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Microcephaly, Hypoplasia of the pons, Basal ganglia gliosis, Hypo... OMIM:607596
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Anemia, Neutropenia OMIM:617475
Malan Overgrowth Syndrome
Hypoplasia of the corpus callosum, Low posterior hairline, Lateral ventricle dilatation, Ventricu... ORPHA:420179
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Microcephaly, Cerebral cortical atrophy, Abnormal cerebral white matter morphology, Lateral ventr... OMIM:617668
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
Autosomal Recessive Spastic Paraplegia Type 66
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Colpocephaly ORPHA:401815
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the corpus callosum, Normal pressure hydrocephalus, Lissencephaly, Cerebellar vermi... ORPHA:300570
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Rhombencephalosynapsis
Short nose, Hydrocephalus, Anteverted nares, Fusion of the left and right thalami, Septo-optic dy... ORPHA:59315
Glutamine Deficiency, Congenital
Hypoplasia of the corpus callosum, Short nose, Subependymal cysts, Anteverted nares, Lateral vent... OMIM:610015
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Short nose, Hypoplastic fingernail, Highly arched eyebrow, Ant... OMIM:618619
Alg3-Cdg
Hypoplasia of the corpus callosum, Abnormality of the nose, Neural tube defect, Dandy-Walker malf... ORPHA:79321
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... OMIM:619220
Knobloch Syndrome
Hydrocephalus, Occipital encephalocele, Depressed nasal bridge, Abnormal hair morphology ORPHA:1571
Leukoencephalopathy, Progressive, With Ovarian Failure
Progressive leukoencephalopathy, Periventricular leukomalacia, Leukoencephalopathy, Lateral ventr... OMIM:615889
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Lissencephaly, Hydrocephalus, Communicating hydrocephalus, Microcephaly, Colpocephaly, Simplified... OMIM:615219
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology, Abnormal caudate nucleus morphology, Abnormal globus pallidus morph... ORPHA:397725
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Aplasia of the inferior half of the cerebellar vermis, Hydrocephalus, Dandy-Walker malformation, ... OMIM:613154
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Thrombocytopenia, Anemia, Splenomegaly, Neutropenia ORPHA:79312
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Hepatosplenomegaly,... ORPHA:98850
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Absent circulating B ce... OMIM:619705
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Short stature, Megaloblastic anemia, Growth delay, Neutropenia OMIM:250940
Immunodeficiency 7
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly, Neutropenia OMIM:615387
Immunodeficiency 55
Postnatal growth retardation, Short stature, Lymphopenia, Intrauterine growth retardation, Absent... OMIM:617827
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Retrognathia, Short nose, Aplastic/hypoplastic toenail, Hydrocephalus, Abnormal dental enamel mor... ORPHA:1812
Woodhouse-Sakati Syndrome
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the uterus, Decreased response to... ORPHA:3464
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Hypoplasia of the pons, Agenesis of corpus c... OMIM:617542
3Mc Syndrome 3
Highly arched eyebrow, Cleft palate, Hypertelorism, Tessier cleft OMIM:248340
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
Griscelli Syndrome Type 2
Splenomegaly, Neutropenia, Hemophagocytosis, Pancytopenia ORPHA:79477
Joubert Syndrome 39
Cerebellar vermis hypoplasia, Occipital encephalocele, Overweight OMIM:619562
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia ORPHA:88
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries ORPHA:2795
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Cyclopia, Alobar holoprosencephaly, Optic nerve hypoplasia, Median c... OMIM:301043
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Retrognathia, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Antev... ORPHA:464738
Congenital Disorder Of Glycosylation, Type Iig
Cerebral atrophy, Cerebellar vermis hypoplasia, Progressive microcephaly, Anteverted nares, Propt... OMIM:611209
Fraser Syndrome
Orofacial cleft, Encephalocele, Cleft ala nasi, Underdeveloped nasal alae, Myelomeningocele, Midl... ORPHA:2052
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... OMIM:607676
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Long eyelashes, Failure to thrive, Micrognathia, Colpocephaly, Agene... OMIM:618651
Familial Partial Lipodystrophy, Köbberling Type
Polycystic ovaries, Hyperinsulinemia, Diabetes mellitus, Pancreatitis ORPHA:79084
Methylcobalamin Deficiency Type Cble
Postnatal growth retardation, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume,... ORPHA:2169
Cach Syndrome
Globus pallidus hypointensity on susceptibility-weighted imaging, T2 hypointense thalamus, Cerebr... ORPHA:135
Immunodeficiency 102
Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased propor... OMIM:301082
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Optic nerve hypoplasia, Decreased body wei... OMIM:609053
Neu-Laxova Syndrome 2
Lissencephaly, Proptosis, Depressed nasal ridge, Spina bifida, Microcephaly, Micrognathia, Cleft ... OMIM:616038
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Diffuse cerebral atrophy, Lateral ventricle dilatation, Corpus callosum atrophy ORPHA:77299
Orofaciodigital Syndrome Xiv
Hypoplasia of the corpus callosum, Occipital encephalocele, Supernumerary tooth, Cerebellar vermi... OMIM:615948
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Hypopigmentation of hair, Neoplasm of the breast, Abnormal eyebrow morphology, ... ORPHA:2221
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Mitochondrial Complex I Deficiency, Nuclear Type 33
Intrauterine growth retardation, Neutropenia OMIM:618253
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Lateral ventricle dilatation OMIM:616816
Orofaciodigital Syndrome I
Cerebral atrophy, Supernumerary tooth, Abnormal cortical gyration, Hydrocephalus, Underdeveloped ... OMIM:311200
Fanconi Anemia, Complementation Group A
Male infertility, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hy... OMIM:227650
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Long nose, Wide nose, Low insertion of columella, Broad nasal tip, Lateral ventricle dilatation, ... OMIM:619995
Propionic Acidemia
Anemia, Pancytopenia, Short stature, Thrombocytopenia, Neutropenia OMIM:606054
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positive hemolytic anem... OMIM:304790
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Growth delay, Thrombocytopenia, Normochromic anemia, Neutropenia OMIM:614857
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair, Hydrocephalus, Propt... ORPHA:53271
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Neoplasm of th... ORPHA:2884
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Hypoplasia of the corpus callosum, Basal ganglia calcification, Lateral ventric... OMIM:221770
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Thin corpus callosum, Microcephaly, Lateral ventricle dilatation, Retinal pigment epithelial mott... OMIM:619517
Trichothiodystrophy 3, Photosensitive
Intrauterine growth retardation, Neutropenia, Short stature, Lymphopenia OMIM:616395
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
X-Linked Parkinsonism-Spasticity Syndrome
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilated third ventricle, Obesity, Lateral ventricle dilatation, Deeply set eye,... OMIM:617296
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Microcephaly, Lateral ventricle dilata... OMIM:618890
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... OMIM:615363
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:572
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Secondary amenorrhea, Polycystic ovaries, Insulin-resistant diabetes mellitus, Hypergonadotropic ... OMIM:268020
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Disproportionate short stature... OMIM:301110
Disabling Pansclerotic Morphea Of Childhood
Neutropenia, Lymphopenia OMIM:620443
Chromosome 6Q24-Q25 Deletion Syndrome
Medial flaring of the eyebrow, Hydrocephalus, Anteverted nares, Low posterior hairline, Sparse ey... OMIM:612863
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Lateral ventricle dilatation ORPHA:306669
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Del... ORPHA:1855
Acrodysostosis 2 With Or Without Hormone Resistance
Short nose, Red hair, Anteverted nares, Mandibular prognathia, Obesity, Depressed nasal bridge, B... OMIM:614613
Fanconi Anemia, Complementation Group E
Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-induced pyrimidine ... OMIM:600901
Acute Promyelocytic Leukemia
Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Metrorrhagia, Neutropenia ORPHA:520
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:601859
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Polymicrogyria, Hypothalamic hamartoma, Porencephalic cyst, Failure... OMIM:277170
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Mandibular prognathia, Abnormal position of hair whorl, Lateral ventricle dilatation ORPHA:85290
X-Linked Agammaglobulinemia
Anemia, Short stature, Thrombocytopenia, Recurrent cutaneous abscess formation, Neutropenia ORPHA:47
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia OMIM:619752
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature pubarche, Is... ORPHA:90795
Neonatal Lupus Erythematosus
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia ORPHA:398124
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Pancytopenia, Growth delay, Thrombocytopenia, Disproportionat... OMIM:242900
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Cerebellar hypoplasia, Ventriculomegaly, Cerebral calc... ORPHA:3322
Weaver Syndrome
Retrognathia, Cerebellar hypoplasia, Thin nail, Mandibular prognathia, Deep-set nails, Umbilical ... OMIM:277590
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypoplasia of the corpus callosum, High anterior hairline, Anteverted nares, Sparse scalp hair, S... ORPHA:477993
Schimke Immuno-Osseous Dysplasia
Anemia, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells, Shor... ORPHA:1830
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Short stature, Growth delay, Leukopenia... OMIM:613990
Paganini-Miozzo Syndrome
Mandibular prognathia, Deeply set eye, Lateral ventricle dilatation OMIM:301025
Slc35A2-Cdg
Cerebral atrophy, Hypoplasia of the corpus callosum, Dandy-Walker malformation, Cortical dysplasi... ORPHA:356961
Cohen Syndrome
Delayed puberty, Leukopenia, Short stature, Neutropenia OMIM:216550
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation, Short corpus callosum OMIM:619972
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Mandibular prognathia, Hypopigmentation of the skin, Cessation of head ... ORPHA:411515
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Developmental And Epileptic Encephalopathy 31B
Secondary microcephaly, Thin corpus callosum, Reduced cerebral white matter volume, Failure to th... OMIM:620352
Carney Complex, Type 1
Multiple lentigines, Thyroid carcinoma, Red hair, Pheochromocytoma, Hirsutism, Cardiac myxoma, Pr... OMIM:160980
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Umbilical hernia, Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Barth Syndrome
Hypochromic microcytic anemia, Growth delay, Cyclic neutropenia, Granulocytopenia, Neutropenia OMIM:302060
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ovaries, Insulin-... ORPHA:79085
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Retrognathia, Mandibular prognathia, Micrognathia, Lateral ven... OMIM:618914
Diamond-Blackfan Anemia 11
Short stature, Anemia of inadequate production, Neutropenia OMIM:614900
Neurocardiofaciodigital Syndrome
Hypoplasia of the corpus callosum, Retrognathia, Cavum septum pellucidum, Cerebellar vermis hypop... OMIM:619869
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... OMIM:278760
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati... ORPHA:572333