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Gene: Sox2 MGI:98364

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Gene Summary

Name:
SRY (sex determining region Y)-box 2
Synonyms:
ysb,  lcc,  Sox-2

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal optic disk morphology Sox2em1(IMPC)Mbp HET Early adult 4.04×10-08
abnormal brain morphology Sox2em1(IMPC)Mbp HET Early adult 0.00
enhanced contextual conditioning behavior Sox2em1(IMPC)Mbp HET Early adult 3.00×10-08
abnormal retina blood vessel morphology Sox2em1(IMPC)Mbp HET   Early adult 7.05×10-05
embryonic growth retardation Sox2em1(IMPC)Mbp HET E9.5 0.00
embryonic lethality prior to organogenesis Sox2em1(IMPC)Mbp HOM   E9.5 0.00
irregularly shaped pupil Sox2em1(IMPC)Mbp HET Early adult 1.00×10-06
preweaning lethality, complete penetrance Sox2em1(IMPC)Mbp HOM   Early adult 0.00

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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 Dorso Ventral

42 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Gross Morphology Embryo E9.5

Images

7 Images

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Human diseases caused by Sox2 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.

The table below shows human diseases associated to Sox2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Septo-Optic Dysplasia Spectrum
Esophageal atresia, Constipation, Tracheoesophageal fistula, Cleft palate ORPHA:3157
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Tracheoesophageal fistula ORPHA:77298
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus... OMIM:206900

The table below shows human diseases predicted to be associated to Sox2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma OMIM:616428
Syngnathia
Cleft palate OMIM:119550
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... OMIM:615842
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Intrauterine growth retardation, Short stature OMIM:135950
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia, Microcephaly OMIM:616335
Autism, Susceptibility To, X-Linked 3
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... OMIM:300496
Autism, Susceptibility To, X-Linked 1
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... OMIM:300425
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma OMIM:611638
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Dystonia 30
Diffuse cerebral atrophy, Torticollis, Writer's cramp, Impulsivity, Aggressive behavior, Globus p... OMIM:619291
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Autism, Susceptibility To, 8
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... OMIM:607373
Autism
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... OMIM:209850
Isolated Growth Hormone Deficiency, Type Ib
Micropenis, Reduced circulating growth hormone concentration, Decreased response to growth hormon... OMIM:612781
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Inferior chorioretinal coloboma OMIM:614497
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Gastric Cancer
Stomach cancer OMIM:613659
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Microphthalmia, Agenesis of corpus callosum, Optic nerve hypoplasia OMIM:218670
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... OMIM:300888
Uvula, Bifid
Bifid uvula OMIM:192100
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Facial Clefting, Oblique, 1
Microphthalmia, Cleft palate, Cleft upper lip OMIM:600251
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... OMIM:228300
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Microphthalmia, Syndromic 12
Anophthalmia, Intestinal malrotation, Cleft palate, Neonatal death, Microphthalmia OMIM:615524
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Laryngotracheal stenosis, Tracheoesophageal fistula, Dysphagia, Up... ORPHA:142
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Tracheoesophageal fistula, Respiratory insufficiency, Intestinal atresia ORPHA:93941
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin... OMIM:619079
Gastroschisis
Intestinal atresia ORPHA:2368
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... OMIM:616030
Tietz Syndrome
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Cough ORPHA:99977
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia ORPHA:1068
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, ... OMIM:615181
Coasy Protein-Associated Neurodegeneration
Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Eye of the tiger anomal... ORPHA:397725
Alexander Disease Type I
Cerebellar atrophy, Palatal tremor, Hydrocephalus, Abnormal thalamic MRI signal intensity, Hypoto... ORPHA:363717
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... OMIM:614837
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... OMIM:614897
Cleft Soft Palate
Cleft soft palate OMIM:119570
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Cleft palate, Aspiration pneumonia, Micr... ORPHA:141152
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Stxbp1-Related Encephalopathy
Cerebral white matter atrophy, Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure wit... ORPHA:599373
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Optic atrophy, Cerebellar hypoplasia, Microphthalmia, Agenes... ORPHA:1528
Tubulinopathy-Associated Dysgyria
Ventriculomegaly, Startle-induced seizure, Infantile spasms, Microcephaly, Hypotonia, Generalized... ORPHA:467166
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Delpire-Mcneill Syndrome
Tracheoesophageal fistula, Dysphagia OMIM:619083
Retinitis Pigmentosa 42
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu... OMIM:612943
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ... ORPHA:83461
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate ORPHA:2432
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Jejunal Atresia
Jejunal atresia OMIM:243600
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Small scrotum, Hypogonadotropic hypogonad... OMIM:308700
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cleft palate, Cleft upper lip OMIM:120433
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
EEG abnormality, Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Corpus callosum atrophy... OMIM:301107
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Rigidity, Basal ganglia calcification, Seizure, Hypertonia, Thalamic calcif... OMIM:618824
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Diffuse cerebral atrophy, Decreased thalamic volume, Seizure, Hypertonia, Secondary microcephaly,... OMIM:613668
Gombo Syndrome
Microphthalmia, Microcephaly OMIM:233270
Emphysema, Congenital Lobar
Respiratory distress, Bronchial cartilage hypoplasia OMIM:130710
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Methimazole Embryofetopathy
Esophageal atresia, Tracheoesophageal fistula ORPHA:1923
Variant Abeta2M Amyloidosis
Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue, Gastrointe... ORPHA:314652
Anencephaly 2
Anophthalmia, Median cleft palate, Median cleft lip, Cleft maxillary alveolar ridge OMIM:619452
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Agenesis of corpus callosum, Optic nerve hypoplasia ORPHA:250972
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, ... OMIM:613490
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Cerebellar hypoplasia, Microphthalmia, Retinal dysplasia OMIM:614830
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, D... ORPHA:2494
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Cerebellar hypoplasia, Optic nerve hypoplasia ORPHA:65288
Autism, Susceptibility To, X-Linked 2
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... OMIM:300495
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Spastic tetraplegia, Decreased thalamic volume, Abnormal basal ganglia morphology, Dystonia OMIM:618646
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Septooptic Dysplasia
Agenesis of corpus callosum, Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux, Cough ORPHA:99976
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia, Death in infancy OMIM:226730
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Gastroesophageal reflux, Cough, Emphysema, Neonatal respir... ORPHA:95430
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Decreased serum insulin-like growth factor 1, Ectopi... OMIM:620303
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Perching Syndrome
Respiratory distress, High palate, Scoliosis, Dysphagia OMIM:617055
Microphthalmia, Isolated 6
Microphthalmia, Retinal fold OMIM:613517
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... OMIM:618157
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Hypoplasia of the brainste... OMIM:615771
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Microphthalmia, Syndromic 11
Microphthalmia, Cleft palate, Cleft upper lip OMIM:614402
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Martinez-Frias Syndrome
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Duoden... OMIM:601346
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, Basal ganglia calcification, T2 hypointense thalamus, Leukoencephalopathy, Seizu... OMIM:618193
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting OMIM:609218
Autosomal Dominant Focal Dystonia, Dyt25 Type
Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,... ORPHA:329466
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... OMIM:613986
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... OMIM:619755
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Axial hypotonia, Infantile spasms, Tonic seizure, Spastic tetraplegia, Seizure, Focal clonic seiz... OMIM:251280
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Microcephaly, Hydrocephalus, Cortical dysplasia, Hypotonia, Seizure, Attention deficit hyperactiv... OMIM:618709
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Epileptic spasm, Severe muscular hypotonia, Oculogyric crisis, Microcephaly, ... OMIM:614254
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Brooke-Spiegler Syndrome
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... ORPHA:79493
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:614842
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Chromosome 15Q11-Q13 Duplication Syndrome
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... OMIM:608636
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth ORPHA:2016
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural hearing impairm... OMIM:619947
Phosphoribosylaminoimidazole Carboxylase Deficiency
Neonatal death, Esophageal atresia, Tracheoesophageal fistula OMIM:619859
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Oral-pharyngeal dysphagia, Diffuse white matter abnormalities, Abnorma... ORPHA:208447
Dystonia 33
Axial dystonia, Limb dystonia, Axial hypotonia, Dystonia, Neonatal seizure, Spasticity OMIM:619687
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Hydrocephalus, Partial age... OMIM:619302
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Esophageal atresia, Tracheoesophageal fistula, Anal atresia OMIM:314390
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... OMIM:611584
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Ventriculomegaly, Bilateral tonic-clonic seizure, Hypotonia, Hand tremor, Dys... OMIM:617862
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Dystonia 32
Torticollis, T2 hypointense basal ganglia, Dysphagia, Brain atrophy, Limb dystonia, Laryngeal dys... OMIM:619637
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Axial hypotonia, Microcephaly, Aggressive behavior, Focal motor status epilepticus, Focal-onset s... OMIM:619150
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes... OMIM:618108
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Non-Syndromic Posterior Hypospadias
Esophageal atresia, Anal atresia, Cleft palate ORPHA:95706
Amyotrophic Lateral Sclerosis 2, Juvenile
Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lower motor ... OMIM:205100
Coffin-Siris Syndrome 11
Esophageal atresia, High palate, Bifid uvula, Cleft soft palate OMIM:618779
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Fanconi Anemia, Complementation Group Q
Anteriorly placed anus, Esophageal atresia OMIM:615272
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal tracts, Degeneration of ... OMIM:105400
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Dysphagia, Spasticity OMIM:617892
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Seizure, Hypo... OMIM:604213
Basal Ganglia Calcification, Idiopathic, 5
Cerebral calcification, Postural tremor, Basal ganglia calcification, Hand tremor, Athetosis, Tha... OMIM:615483
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Macular atrophy, Microcephaly, Hypoplasia of the pons, Partial agenesis of the... OMIM:616171
Neuroferritinopathy
Resting tremor, Caudate atrophy, Writer's cramp, Abnormal putamen morphology, T2 hypointense thal... ORPHA:157846
17Q12 Microduplication Syndrome
Tracheoesophageal fistula, Cleft palate ORPHA:261272
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Hydrocephalus, Hypotonia, Seizure, Fusion of the left and... OMIM:617542
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Microcephaly, Focal-onset seizure, Decreased thalamic volume, Simplified gyral pattern, Myoclonic... OMIM:619072
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Cleft palate OMIM:616570
Congenital Tracheal Stenosis
Respiratory distress, Abnormal bronchus morphology, Abnormal stomach morphology, Neonatal asphyxi... ORPHA:141127
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Muir-Torre Syndrome
Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma sebaceum, Colon ... ORPHA:587
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... ORPHA:95613
X-Linked Intellectual Disability, Najm Type
Optic nerve hypoplasia, Microcephaly, Optic atrophy, Cerebellar hypoplasia, Chorioretinal colobom... ORPHA:163937
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... OMIM:300088
Mmep Syndrome
Microphthalmia, Median cleft lip, Orofacial cleft ORPHA:3434
Schisis Association
Anal atresia, Tracheoesophageal fistula, Cleft palate ORPHA:63862
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration ORPHA:3233
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Cleft palate, Respiratory insufficiency, Restricti... OMIM:614399
Ceroid Lipofuscinosis, Neuronal, 9
Psychomotor deterioration, Rod-cone dystrophy, Optic atrophy OMIM:609055
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Microcephaly, Diffuse white matter abnormalities, Seizure, Secondary microcephaly, Generalized hy... OMIM:616763
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Unsteady gait, Cochlear nerve hypoplasia, Abnormal speech ... OMIM:300614
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Basal ganglia calcification, Thalamic calcification, Brain atrophy, Dysphagia OMIM:618317
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Cochlear degeneration, Hearing impairment OMIM:271250
Lissencephaly 4
Simplified gyral pattern, Seizure, Colpocephaly, Hypertonia, Lissencephaly, Primary microcephaly,... OMIM:614019
Cap Polyposis
Atrophic gastritis, Diarrhea, Hematochezia, Constipation, Colorectal polyposis ORPHA:160148
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respiratory failure, D... ORPHA:1832
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly OMIM:618890
Microphthalmia, Syndromic 8
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Microph... OMIM:601349
Usher Syndrome Type 3
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction, I... ORPHA:231183
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Agenesis of corpus callosum, Optic nerve hypoplasia, Microcephaly OMIM:614833
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate OMIM:614526
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Disinhibition, Dysphagia, Spasticity, Abnormal repetitive mannerisms OMIM:612069
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Cerebral cortical atrophy, Craniofacial dystonia ORPHA:370103
5Q14.3 Microdeletion Syndrome
Frontal cortical atrophy, Agenesis of cerebellar vermis, Optic nerve hypoplasia, Hypoplasia of th... ORPHA:228384
Sheehan Syndrome
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p... ORPHA:91355
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Barrett Esophagus
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux OMIM:614266
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... OMIM:619751
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Hypotonia, M... OMIM:617389
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Leukoencephalopathy, Focal T2 hyperintense thalamic lesion, Head tremor, Dystonia, I... OMIM:613724
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basal ganglia, Infantile... ORPHA:300570
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... OMIM:177650
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Recurrent sin... OMIM:616576
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... ORPHA:98807
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Iris cyst, Optic atrophy OMIM:620086
Hereditary Mucoepithelial Dysplasia
Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue ORPHA:1839
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Microcephaly, Hypotonia, Hand tremor, Degeneration of anterior ho... OMIM:607596
Portal Hypertension, Noncirrhotic, 1
Esophageal varix OMIM:617068
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Tremor, ... ORPHA:52368
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal cerebral white ma... OMIM:602099
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms OMIM:606053
Rhombencephalosynapsis
Esophageal atresia, Aganglionic megacolon, Tracheoesophageal fistula, Anal atresia ORPHA:59315
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis ORPHA:2022
Optic Atrophy 2
Optic atrophy OMIM:311050
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, High palate, Narrow mouth ORPHA:2528
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Microcephaly OMIM:613638
Usher Syndrome Type 1
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction, I... ORPHA:231169
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Restlessness, Dystonia, Infantile spasms, Spastic tetraplegia, Abnormal basal ganglia morphology,... ORPHA:263410
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Fanconi Anemia, Complementation Group B
Esophageal atresia, Death in infancy, Tracheoesophageal fistula, Duodenal atresia OMIM:300514
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Enlarged sylvian cistern, Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, ... OMIM:619616
Ceroid Lipofuscinosis, Neuronal, 11
Mental deterioration, Optic atrophy, Retinal dystrophy OMIM:614706
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Posteriorly rotated ears, Low-set ears, Thin eyebrow, High anterior hairline, Recurrent hand flap... OMIM:618147
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Optic atrophy, Cerebral atrophy, Microphthalmia, Agenesis of corpus callosum OMIM:274270
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Hypospadias, Diarrhea, Glandular hypospadias, Shawl scrotum ORPHA:2575
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Septo-Optic Dysplasia Spectrum
Esophageal atresia, Constipation, Tracheoesophageal fistula, Cleft palate ORPHA:3157
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Tracheoesophageal fistula ORPHA:77298
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7
Focal-onset seizure, Hypotonia, Seizure, Secondary microcephaly, Brain atrophy, Dystonia, Refract... OMIM:620359
Cocaine Embryofetopathy
Intestinal atresia ORPHA:1911
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Parc Syndrome
Cleft palate OMIM:600331
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Developmental And Epileptic Encephalopathy 7
Spastic tetraparesis, Hypotonia, Seizure, Hypoplasia of the corpus callosum, Dystonia OMIM:613720
Congenital Contractural Arachnodactyly
Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia ORPHA:115
Dystonia 6, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... OMIM:602629
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hypot... OMIM:619301
Esophageal Atresia
Respiratory distress, Barrett esophagus, Intestinal malrotation, Pyloric stenosis, Gastrointestin... ORPHA:1199
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia, ... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia, ... OMIM:616437
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Spastic tetraparesis, Microcephaly, Tremor, Aggressive behavior, Hydrocephalus, Si... OMIM:619470
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Cleft palate, Hy... ORPHA:506353
Hemidystonia-Hemiatrophy Syndrome
Abnormal basal ganglia MRI signal intensity, Limb dystonia, Seizure, Dystonia, Abnormal periventr... ORPHA:306741
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Schizencephaly, Microcephaly, Focal-onset seizure, Cortical dysplasia, Dysgen... ORPHA:300573
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Auriculocondylar Syndrome 2A
Respiratory distress, Dental crowding, Apnea, Microglossia, Dental malocclusion, Cleft palate, Ma... OMIM:614669
Developmental And Epileptic Encephalopathy 107
Axial hypotonia, Microcephaly, Tonic seizure, Clonic seizure, Hypotonia, Seizure, Appendicular hy... OMIM:620033
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia OMIM:619227
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Microce... OMIM:619606
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, D... ORPHA:210122
Infantile Myofibromatosis
Intestinal obstruction, Abnormal intestine morphology, Tracheoesophageal fistula ORPHA:2591
Leukoencephalopathy, Brain Calcifications, And Cysts
Cerebral calcification, Tremor, Leukoencephalopathy, Seizure, Dystonia, Spasticity OMIM:614561
Autosomal Recessive Spastic Paraplegia Type 56
Abnormal globus pallidus morphology, Spastic paraplegia, Abnormal cerebral white matter morpholog... ORPHA:320411
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Retinal dystrophy, Chorioretinal coloboma ORPHA:231736
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic seizure, Focal-onset seizur... ORPHA:725
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Agenesis of corpus callosum, Dandy-... OMIM:618736
New-Onset Refractory Status Epilepticus
Abnormal basal ganglia MRI signal intensity, Seizure precipitated by febrile infection, Bilateral... ORPHA:363558
Dystonia 4, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Dysphagia, Limb dystonia OMIM:128101
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia OMIM:614306
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Dysphagia, Dystonia OMIM:300857
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Cer... OMIM:617493
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... OMIM:609425
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in... OMIM:615237
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cleft palate OMIM:164180
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Joubert Syndrome 26
Micropenis, Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hy... OMIM:616784
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Hypotonia, Self-injurious behavior, Seizure, Hypoplasia of the corpus callosum, Dystonia, Spastic... OMIM:617820
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Generalized myoclonic seizure, T2 hypointense thalamus, Spastic tetraplegia, ... ORPHA:1947
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... OMIM:173100
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Feingold Syndrome 2
Intestinal atresia OMIM:614326
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Microcephaly, Cogwheel rigidity, Hypertonia, Attention deficit hyperactivity disorder, Dystonia, ... OMIM:618284
Developmental And Epileptic Encephalopathy 31A
Diffuse cerebral atrophy, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Hypoton... OMIM:616346
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Paroxysmal dystonia, Focal hemifacial clonic seizure, Seizure, Writer's cramp ORPHA:163727
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... OMIM:618723
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Microcephaly, Clonic seizure, Cortical dysplasia, Spastic tetraplegia, Self-injurious behavior, S... OMIM:615282
Chronic Granulomatous Disease
Sinusitis, Malabsorption, Pyloric stenosis, Chronic pulmonary obstruction, Tracheoesophageal fistula ORPHA:379
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Spastic Paraplegia 81, Autosomal Recessive
Retinal vascular tortuosity, Optic atrophy, Bifid uvula, Cleft palate OMIM:618768
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Torticollis, Dystonia, Dysphagia, Craniofacial dystonia OMIM:611694
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Synophrys, Macrotia, Abnormal repetitive man... OMIM:615541
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... OMIM:240950
Hyperprolinemia, Type I
EEG abnormality, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Tooth agenesis, Microphthalmia, High palate, Cleft palate ORPHA:1135
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of the po... ORPHA:370959
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Esophageal atresia, Cleft palate OMIM:610536
Dystonia 25
Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia OMIM:615073
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio... ORPHA:436159
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia ORPHA:137634
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Congenital pyloric atresia OMIM:612138
Pendred Syndrome
Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th... ORPHA:705
Combined Oxidative Phosphorylation Deficiency 51
Rigidity, Focal T2 hyperintense thalamic lesion, Myoclonus, Cerebral atrophy OMIM:619057
Dystonia 23
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dys... OMIM:614860
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Bilateral tonic-clonic seizure, Reduced cerebral white matter volume, Dysplastic corpus callosum,... OMIM:620317
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Dysphagia OMIM:617839
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulat... OMIM:275400
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Tremor, Degeneration of anterior horn cells, Myoclonus, Dysphagia, Gen... OMIM:159950
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Cach Syndrome
Cerebellar atrophy, Microcephaly, T2 hypointense thalamus, Spastic diplegia, Cerebral atrophy, In... ORPHA:135
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Basal ganglia calcification, Spastic paraplegia, Abnormal cerebral white matter morphology, Hypop... OMIM:615030
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Generalized dystonia, Corpus callosum... OMIM:619389
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Premature ovarian insufficiency... OMIM:240300
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, M... OMIM:617914
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Myoclonus-Dystonia Syndrome
Torticollis, Writer's cramp, Myoclonus, Compulsive behaviors, Dystonia, Spinal myoclonus, Limb my... ORPHA:36899
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Inappropriate be... ORPHA:412066
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Axial hypotonia, Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Thin corpus callosum OMIM:619651
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Abnormal repetitive mannerisms, Focal-onset sei... ORPHA:561854
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Hypotonia, Cerebral atrophy, Brux... OMIM:618497
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Acces Syndrome
Tracheoesophageal fistula OMIM:619959
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Retinal dystrophy, High palate, Chorioretinal coloboma, Microphthalmia ORPHA:139471
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, EEG abnormality, Low-set ears,... OMIM:618718
Feingold Syndrome
Esophageal atresia, Duodenal atresia ORPHA:1305
Braddock-Carey Syndrome 2
Wide mouth, Microphthalmia, Pierre-Robin sequence, Cleft palate OMIM:619981
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Congenital Diaphragmatic Hernia
Respiratory distress, Intestinal malrotation, Hypoxemia ORPHA:2140
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Reduced cerebral white matter volume, Tonic seizure, Hypotonia, Seizure, Hypopla... OMIM:617771
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Microphthalmia, Optic atrophy, Chorioretinal coloboma ORPHA:1473
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Sirenomelia
Tracheoesophageal fistula, Anal atresia ORPHA:3169
Axial Mesodermal Dysplasia Spectrum
Anorectal anomaly, Tracheoesophageal fistula, Gastroesophageal reflux, Abnormal intestine morphol... ORPHA:1834
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hypoplasia of the pons, Micro... OMIM:620157
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizu... ORPHA:77299
Leukodystrophy, Hypomyelinating, 14
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Seizure, Generalized hypotonia, Dystonia, Spa... OMIM:617899
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency