Gene Summary

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

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Sox2em1(IMPC)Mbp HOM   Early adult 0.00
abnormal optic disk morphology Sox2em1(IMPC)Mbp HET Early adult 7.56×10-09
embryonic lethality prior to organogenesis Sox2em1(IMPC)Mbp HOM   E9.5 0.00
enhanced contextual conditioning behavior Sox2em1(IMPC)Mbp HET Early adult 3.00×10-08
irregularly shaped pupil Sox2em1(IMPC)Mbp HET Early adult 3.19×10-06
abnormal retina blood vessel morphology Sox2em1(IMPC)Mbp HET   Early adult 8.32×10-05
embryonic growth retardation Sox2em1(IMPC)Mbp HET E9.5 0.00
abnormal brain morphology Sox2em1(IMPC)Mbp HET Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

42 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Gross Morphology Embryo E9.5

Images

7 Images

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Syngnathia
Cleft palate OMIM:119550
Microphthalmia/Coloboma 10
Microphthalmia, Chorioretinal coloboma, Anophthalmia, Optic pit OMIM:616428
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti... OMIM:615113
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... 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
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Intrauterine growth retardation, Short stature OMIM:135950
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration, Microphthalmia OMIM:251700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia, Chorioretinal dysplasia OMIM:616335
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300425
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Chorioretinal coloboma, Anophthalmia OMIM:611638
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Dystonia 30
Globus pallidus hypointensity on susceptibility-weighted imaging, Oromandibular dystonia, Writer'... OMIM:619291
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas... OMIM:262600
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Isolated Growth Hormone Deficiency, Type Ib
Reduced circulating growth hormone concentration, Decreased response to growth hormone stimulatio... OMIM:612781
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
High-Grade Dysplasia In Patients With Barrett Esophagus
Gastroesophageal reflux, Barrett esophagus, Dysphagia, Esophageal obstruction ORPHA:231080
Microphthalmia/Coloboma 7
Microphthalmia, Inferior chorioretinal coloboma OMIM:614497
Autism, Susceptibility To, 8
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:607373
Autism
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:209850
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Cleft palate, Microphthalmia OMIM:600251
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608631
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:218670
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to... OMIM:300888
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal food impaction, Esophageal atresia, Gastroesophageal reflux, Eosinophilic microabscess... ORPHA:411696
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Uvula, Bifid
Bifid uvula OMIM:192100
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Intestinal malrotation, Cleft palate, Neonatal death OMIM:615524
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Decreased thyroid-stimulating hormone level, Decreased circulating follicle stimulating hormone c... OMIM:620651
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Spermatogenic Failure 17
Male infertility OMIM:617214
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Chronic diarrhea, Abnormal intestine morpholog... OMIM:619079
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:616030
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... ORPHA:91349
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Hearing impairment, Abnormality of skin p... ORPHA:42665
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Delayed menarche, Testicular atrophy, Olig... ORPHA:52901
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Cleft Soft Palate
Cleft soft palate OMIM:119570
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Aniridia ORPHA:1068
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebellar hy... OMIM:615181
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Coasy Protein-Associated Neurodegeneration
Oromandibular dystonia, Abnormal thalamus morphology, Compulsive behaviors, Abnormal caudate nucl... ORPHA:397725
Alexander Disease Type I
Abnormal thalamic MRI signal intensity, Focal T2 hyperintense basal ganglia lesion, Hydrocephalus... ORPHA:363717
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Microphthalmia, Isolated 5
Microphthalmia, Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Opt... OMIM:611040
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Decreased circulating luteinizing hormone level, Cryptorchidism, Micropenis, Congenital adrenal h... OMIM:202150
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Decreased ma... ORPHA:95512
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Epileptic spasm, Generalized myoclonic seizure, Hyperactivity, Focal ... ORPHA:599373
Panhypophysitis
Abnormal thalamic MRI signal intensity, Central diabetes insipidus, Reduced circulating prolactin... ORPHA:95513
Tubulinopathy-Associated Dysgyria
Generalized non-motor (absence) seizure, Startle-induced seizure, Dysgyria, Infantile spasms, Abn... ORPHA:467166
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Retinitis Pigmentosa 42
Cystoid macular edema, Rod-cone dystrophy, Perifoveal ring of hyperautofluorescence, Peripapillar... OMIM:612943
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Microphthalmia, Retinal dystrophy, Retinal detachment, Microcephaly, Abnormalit... OMIM:251270
Delayed Puberty, Self-Limited
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619613
Craniotelencephalic Dysplasia
Optic atrophy, Microphthalmia, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, ... ORPHA:1528
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate ORPHA:2432
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Reduced circulating... ORPHA:2235
Jejunal Atresia
Jejunal atresia OMIM:243600
Delpire-Mcneill Syndrome
Dysphagia, Tracheoesophageal fistula OMIM:619083
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Respiratory distress, Dyspnea, Tracheoesophageal fistula, Dysphagia ORPHA:142
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Gangliocytoma
Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Abnormal prolactin level... ORPHA:251937
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Microphthalmia, Cleft palate OMIM:120433
Ane Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Reduced circulating prola... ORPHA:157954
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Microphthalmia, Macular atrophy OMIM:267760
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Enl... ORPHA:79414
Intellectual Developmental Disorder, X-Linked 111
Thin corpus callosum, Hyperactivity, Hippocampal atrophy, Seizure, Spasticity, Compulsive behavio... OMIM:301107
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Fryns Microphthalmia Syndrome
Tessier cleft, Microphthalmia, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip OMIM:600776
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
Emphysema, Congenital Lobar
Bronchial cartilage hypoplasia, Respiratory distress OMIM:130710
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Death in infancy, Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia OMIM:226730
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Hypertonia, Seizure, Thalamic calcification, Limb dystonia, Rigidity, Basal ganglia calcification... OMIM:618824
Gombo Syndrome
Microcephaly, Microphthalmia OMIM:233270
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Secondary microcephaly, Hypertonia, Seizure, Spasticity, Decreased thalamic volume, Diffuse cereb... OMIM:613668
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Laryngotracheoesophageal Cleft Type 4
Intestinal atresia, Tracheoesophageal fistula, Tracheal stenosis ORPHA:93941
Anencephaly 2
Anophthalmia, Cleft maxillary alveolar ridge, Median cleft palate, Median cleft upper lip OMIM:619452
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Cleft palate, Dyspnea, Microglossia ORPHA:141152
Methimazole Embryofetopathy
Esophageal atresia, Tracheoesophageal fistula ORPHA:1923
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia, Hypoplasia of the brainstem, Agenesis of corpus callosum ORPHA:250972
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis ORPHA:718
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Autism, Susceptibility To, X-Linked 2
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300495
Bifid Uvula
Cleft lip, Bifid uvula, Submucous cleft soft palate ORPHA:99771
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Cerebellar hypoplasia, Microphthalmia, Retinal dysplasia OMIM:614830
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, EEG abnormality, Motor stereotypy, Aggressive behavior OMIM:617171
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Abnormal female external genitalia morpho... OMIM:613080
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:619515
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Spastic tetraplegia, Abnormal basal ganglia morphology, Dystonia, Decreased thalamic volume OMIM:618646
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Cerebellar hypoplasia ORPHA:65288
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Seizure, Spasticity, Impulsivity, Rigidity, Dystonia, Dysphagia, Status epilepticu... OMIM:620448
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophic gastriti... ORPHA:2494
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Decreased response to growth hormon... OMIM:618157
Septooptic Dysplasia
Optic nerve hypoplasia, Optic disc hypoplasia, Agenesis of corpus callosum OMIM:182230
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A... OMIM:620303
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Neonatal death, Congenital pyloric atresia OMIM:619817
Microphthalmia, Isolated 6
Microphthalmia, Retinal fold OMIM:613517
Perching Syndrome
Scoliosis, High palate, Dysphagia, Respiratory distress OMIM:617055
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:301059
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia, Cerebellar vermis hypoplasia, Primary microcephaly, Hypoplasia... OMIM:615771
Variant Abeta2M Amyloidosis
Gastrointestinal infarctions, Abnormal salivary gland morphology, Intestinal perforation ORPHA:314652
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Microphthalmia, Syndromic 11
Cleft upper lip, Microphthalmia, Cleft palate OMIM:614402
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Non-obstructive azoospermia, Decreased testicular size, Globozoospermia... ORPHA:399808
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opaci... OMIM:305390
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Foveal Hypoplasia 2
Hypoplasia of the fovea, Optic nerve misrouting, Microphthalmia, Foveal hyperpigmentation OMIM:609218
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Decreased circulating ACTH concentration, Decreased ... OMIM:613986
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Hypoplasia of the corpus callosum, T2 hypointense thalamus, Seizure, Cerebral cortical atrophy, D... OMIM:618193
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Retinal fold, Exudative retinal detachment, Subretinal fluid ORPHA:209956
Autosomal Dominant Focal Dystonia, Dyt25 Type
Torticollis, Axial dystonia, Lingual dystonia, Craniofacial dystonia, Limb dystonia, Focal dyston... ORPHA:329466
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:311895
Martinez-Frias Syndrome
Intestinal hypoplasia, Tracheoesophageal fistula, Intestinal malrotation, Jejunal atresia, Duoden... OMIM:601346
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Cortical dysplasia, Seizure, Abnormal corpus callosum morphology, Microcephaly, Hy... OMIM:618709
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Generalized myoclonic seizure, Progressive microcephaly, Seizure, Infantile spasms, Tonic seizure... OMIM:251280
Waardenburg Syndrome, Type 2E
Premature graying of hair, Hypopigmented skin patches, Sensorineural hearing impairment, White ey... OMIM:611584
Cleft Palate, Isolated
Anterior open-bite malocclusion, Gingival overgrowth, Cleft palate, Increased overbite OMIM:119540
2q33.1 deletion syndrome
Cleft palate, High palate DECIPHER:51
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell... OMIM:618643
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A... OMIM:618664
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebral atrophy, Epileptic spasm, Hypoplasia of the corpus callosum, Oculogyric crisis, Polymicr... OMIM:614254
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Reduced... OMIM:613038
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:612712
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... ORPHA:79493
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614839
Chromosome 15Q11-Q13 Duplication Syndrome
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:608636
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Reduce... ORPHA:99832
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Sensorineural hearing impairment, Hypopigmentat... OMIM:619947
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Dystonia 33
Neonatal seizure, Axial dystonia, Spasticity, Limb dystonia, Axial hypotonia, Dystonia OMIM:619687
Bilateral Generalized Polymicrogyria
Focal-onset seizure, Oculogyric crisis, Focal motor seizure, Focal emotional seizure with laughin... ORPHA:208447
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Microphthalmia, Macular exudate, Retinal neovascularization, Chorioretina... ORPHA:891
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:300123
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
Phosphoribosylaminoimidazole Carboxylase Deficiency
Neonatal death, Esophageal atresia, Tracheoesophageal fistula OMIM:619859
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hypoplasia of the corpus callosum, Atrophy/Degeneration affecting the brainstem, Progressive micr... OMIM:617862
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Neonatal death, Esophageal atresia, Tracheoesophageal fistula OMIM:314390
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, Diarrhea, Skin rash, Inflammation of the large intestine, Bronchiect... OMIM:618108
Dystonia 32
Torticollis, Brain atrophy, Limb dystonia, Dysphagia, T2 hypointense basal ganglia, Laryngeal dys... OMIM:619637
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Focal-onset seizure, Hydrocephalus, Infantile spasms, Bilateral tonic-clonic seizure,... OMIM:619302
Waardenburg Syndrome, Type 2B
Premature graying of hair, Sensorineural hearing impairment, White forelock, Heterochromia iridis OMIM:600193
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Coffin-Siris Syndrome 11
Bifid uvula, High palate, Esophageal atresia, Cleft soft palate OMIM:618779
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Focal-onset seizure, Seizure, Axial hypotonia, Microcephaly, Inappropriate laughter, Dystonia, Mo... OMIM:619150
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Non-Syndromic Posterior Hypospadias
Cleft palate, Esophageal atresia, Anal atresia ORPHA:95706
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Amyotrophic Lateral Sclerosis 1
Spasticity, Dysphagia, Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degene... OMIM:105400
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Spermatogenic Failure 75
Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormone level, Male inf... OMIM:619949
Fanconi Anemia, Complementation Group Q
Anteriorly placed anus, Esophageal atresia OMIM:615272
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Retinal dystrophy, Anophthalmia OMIM:610125
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Hippocampal atrophy, Spasticity, Dysphagia, Amyotrophic lateral sclerosis, Caudate atrophy OMIM:617892
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cerebral atrophy, Microphthalmia, Retinopathy, Microcephaly, Hypoplasia of the pon... OMIM:616171
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Sei... OMIM:604213
Basal Ganglia Calcification, Idiopathic, 5
Cerebral calcification, Athetosis, Thalamic calcification, Basal ganglia calcification, Motor tic... OMIM:615483
Amyotrophic Lateral Sclerosis 2, Juvenile
Spastic gait, Spastic tetraparesis, Spasticity of facial muscles, Microcephaly, Head titubation, ... OMIM:205100
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Focal-onset seizure, Hydrocephalus, Infantile spasms, Bilateral tonic-clonic seizure,... OMIM:619301
Gastroschisis
Intestinal malrotation, Volvulus, Intestinal perforation, Intestinal atresia ORPHA:2368
Megalencephalic Leukoencephalopathy With Subcortical Cysts 3
Lower limb spasticity, Spasticity, Seizure, Rigidity, Dystonia, Upper limb spasticity, Dysphagia,... OMIM:620447
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... ORPHA:95613
Neuroferritinopathy
Abnormal thalamic MRI signal intensity, T2 hypointense thalamus, Caudate atrophy, Abnormal putame... ORPHA:157846
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Psychomotor deterioration, Rod-cone dystrophy OMIM:609055
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Cleft palate OMIM:616570
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Seizure, Fusion of the left and right thalami, Abnormality of the anterior commiss... OMIM:617542
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the corpus callosum, Focal-onset seizure, Decreased thalamic volume, Cerebral corti... OMIM:619072
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second... ORPHA:2410
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Cataract, Optic disc pallor OMIM:165300
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Optic nerve hypoplasia, Microcephaly, Cerebral cortical atrophy, Chorioretinal col... ORPHA:163937
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate OMIM:614526
Usher Syndrome Type 3
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology, Iris hypo... ORPHA:231183
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Ataxia, Progressive sensorineural hearing impairment ORPHA:3233
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Secondary microcephaly, Seizure, Microcephaly, Dystonia, Diffuse white matter abnormalities, Gene... OMIM:616763
Mmep Syndrome
Orofacial cleft, Microphthalmia, Median cleft upper lip ORPHA:3434
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Seizure, Compulsive behaviors, Abnormal cerebral white matter morphol... ORPHA:500166
Fraxe Intellectual Disability
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... ORPHA:100973
Barrett Esophagus
Esophageal carcinoma, Esophageal ulceration, Barrett esophagus, Gastroesophageal reflux OMIM:614266
Deafness, X-Linked 5, With Peripheral Neuropathy
Distal sensory impairment, Vertigo, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Unst... OMIM:300614
Microphthalmia, Syndromic 8
Orofacial cleft, Microphthalmia, Cleft upper lip, Cleft palate, Widely-spaced maxillary central i... OMIM:601349
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Lissencephaly 4
Hypertonia, Seizure, Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Lissenc... OMIM:614019
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Microcephaly OMIM:618890
Sheehan Syndrome
Breast hypoplasia, Central diabetes insipidus, Amenorrhea, Reduced circulating prolactin concentr... ORPHA:91355
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Cap Polyposis
Colorectal polyposis, Diarrhea, Constipation, Hematochezia, Atrophic gastritis ORPHA:160148
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
17Q12 Microduplication Syndrome
Cleft palate, Tracheoesophageal fistula ORPHA:261272
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Spasticity, Disinhibition, Dysphagia, Motor stereotypy, Amyotrophic lateral sclerosis OMIM:612069
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Brain atrophy, Thalamic calcification, Dystonia, Dysphagia, Basal ganglia calcification OMIM:618317
Schisis Association
Cleft palate, Tracheoesophageal fistula, Anal atresia ORPHA:63862
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinusitis, Recurrent pneumonia, Atrophic gastritis, Bronchiectasis, Recurrent skin infe... OMIM:616576
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
5Q14.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Agenesis of cerebellar vermis, Frontal... ORPHA:228384
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Thin corpus callosum, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, My... OMIM:617389
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 10
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 11
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:615081
Exfoliation Syndrome
Mydriasis, Phakodonesis, Pseudoexfoliation, Iris hypoperfusion, Anisocoria, Pigment deposition in... OMIM:177650
Premature Ovarian Failure 17
Decreased circulating inhibin B concentration, Premature ovarian insufficiency, Decreased cirrcul... OMIM:619146
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Focal-onset seizure, Type II lissencephaly, Lateral ventricle dilatation, Primary microcephaly, I... ORPHA:300570
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Action tremor, Focal dystoni... ORPHA:98807
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Hypoplasia of the fovea, Iris cyst OMIM:620086
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Hypoplasia of the corpus callosum, Seizure, Spasticity, Cerebral cortical atrophy, Dystonia, Moto... OMIM:617820
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Cerebral cortical atrophy, Microcephaly, Basal ganglia gliosis, D... OMIM:607596
Amyotrophic Lateral Sclerosis 5, Juvenile
Thin corpus callosum, Spasticity, Abnormal cerebral white matter morphology, Abnormal lower motor... OMIM:602099
Rhombencephalosynapsis
Anal atresia, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula ORPHA:59315
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Optic Atrophy 2
Optic atrophy OMIM:311050
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Microcephaly OMIM:613638
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Torticollis, Head tremor, Intention tremor, Dystonia, Leuk... OMIM:613724
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal basal ganglia morphology, Seizure, Infantile spasms, Infantile muscular hypotonia, Dysto... ORPHA:263410
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:95494
Usher Syndrome Type 1
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology, Iris hypo... ORPHA:231169
Portal Hypertension, Noncirrhotic, 1
Esophageal varix OMIM:617068
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Hypospadias, Glandular hypospadias, Diarrhea, Shawl scrotum ORPHA:2575
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Gingival fibromatosis, Delayed cranial suture closure, Gingival overgrowth,... ORPHA:1832
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Furrowed tongue, Anorectal anomaly ORPHA:1839
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Pica OMIM:617270
Microcephaly-Microcornea Syndrome, Seemanova Type
Narrow mouth, Microphthalmia, High palate ORPHA:2528
Fanconi Anemia, Complementation Group B
Death in infancy, Esophageal atresia, Tracheoesophageal fistula, Duodenal atresia OMIM:300514
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Generalized non-motor (absence) seizure, Hypoplasia of the corpus callosum, Periventricular leuko... OMIM:619616
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy, Mental deterioration OMIM:614706
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Gastric varix, Hepatocellular carcinoma, Dyspnea OMIM:613490
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ... OMIM:612885
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microcephaly, Optic nerve hypoplasia, Microphthalmia, Agenesis of corpus callosum OMIM:614833
Parc Syndrome
Cleft palate OMIM:600331
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Septo-Optic Dysplasia Spectrum
Constipation, Cleft palate, Esophageal atresia, Tracheoesophageal fistula ORPHA:3157
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Cleft palate, High palate, Tooth agenesis ORPHA:1135
Stuve-Wiedemann Syndrome 2
Stillbirth, Respiratory distress, Death in adolescence, Neonatal death, Dysphagia OMIM:619751
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Gonadal dysgenesis with female appearan... OMIM:273250
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7
Secondary microcephaly, Focal-onset seizure, Brain atrophy, Seizure, Refractory status epilepticu... OMIM:620359
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Tracheoesophageal fistula ORPHA:77298
Developmental And Epileptic Encephalopathy 7
Hypoplasia of the corpus callosum, Seizure, Spastic tetraparesis, Dystonia, Hypotonia OMIM:613720
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... ORPHA:226307
Joubert Syndrome 26
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... OMIM:616784
Dystonia 6, Torsion
Oromandibular dystonia, Writer's cramp, Torticollis, Torsion dystonia, Lingual dystonia, Limb dys... OMIM:602629
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Periventricular white matter hyperintensities, Hyperactivity, Hydrocephalus, Seizure, Tremor, Spa... OMIM:619470
Cocaine Embryofetopathy
Intestinal atresia ORPHA:1911
Developmental And Epileptic Encephalopathy 107
Appendicular hypotonia, Progressive microcephaly, Seizure, Tonic seizure, Axial hypotonia, Microc... OMIM:620033
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Chorioretinal coloboma, Retinal dystrophy ORPHA:231736
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Cerebral cortical atrophy, Disinhibition, Dysphagia, Abnormal lower motor neuron morphology, Amyo... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Cerebral cortical atrophy, Disinhibition, Dysphagia, Abnormal lower motor neuron morphology, Amyo... OMIM:616437
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Submucous cleft hard palate, Esophageal atresia, Tracheoesophageal fistula, Duodenal atresia OMIM:619227
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2
Optic atrophy OMIM:620569
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Dystonia 4, Torsion, Autosomal Dominant
Generalized dystonia, Torticollis, Torsion dystonia, Limb dystonia, Dysphagia, Hemidystonia OMIM:128101
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, Focal motor seizure, Seizure, Focal aware seizure, ... ORPHA:725
Congenital Contractural Arachnodactyly
Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia ORPHA:115
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the corpus callosum, Abnormal temper tantrums, Focal-onset seizure, Cavum septum pe... ORPHA:300573
Developmental And Epileptic Encephalopathy 99
Frontotemporal cerebral atrophy, Generalized non-motor (absence) seizure, Eyelid myoclonus, Focal... OMIM:619606
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Bifid uvula, Cleft palate, Hyporeflective spaces on m... ORPHA:506353
Leukoencephalopathy, Brain Calcifications, And Cysts
Cerebral calcification, Spasticity, Seizure, Tremor, Dystonia, Leukoencephalopathy OMIM:614561
Auriculocondylar Syndrome 2A
Short mandibular rami, Respiratory distress, Dental crowding, Mandibular condyle hypoplasia, Glos... OMIM:614669
Autosomal Recessive Spastic Paraplegia Type 56
Spastic gait, Hypoplasia of the corpus callosum, Spastic paraplegia, Dystonia, Abnormal cerebral ... ORPHA:320411
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Cerebral atrophy, Generalized non-motor (absence) seizure... OMIM:620537
Isolated Growth Hormone Deficiency, Type Ii
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Decreased s... OMIM:173100
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619761
Premature Ovarian Failure 22
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:620548
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia OMIM:614306
Premature Ovarian Failure 16
Decreased serum estradiol, Reduced antral follicle count, Premature ovarian insufficiency, Elevat... OMIM:618723
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Dysphagia, Dystonia OMIM:300857
Hyperprolactinemia
Oligomenorrhea, Increased circulating prolactin concentration, Female infertility, Menorrhagia OMIM:615555
Congenital Short Bowel Syndrome
Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, Congenital shortened sm... OMIM:615237
Congenital Tracheomalacia
Esophageal atresia, Gastroesophageal reflux, Tracheomalacia, Anomalous tracheal cartilage, Trache... ORPHA:95430
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Low-set ears, Gait ataxia, Macrotia, Posteriorly rotated ears, Motor stereotypy, A... OMIM:609425
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Esophagitis, Gastroesophageal reflux OMIM:109350
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
High anterior hairline, Low-set ears, Recurrent hand flapping, Posteriorly rotated ears, Thin eye... OMIM:618147
Neurodevelopmental Disorder With Involuntary Movements
Cerebral atrophy, Hypoplasia of the corpus callosum, Atrophy/Degeneration affecting the brainstem... OMIM:617493
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Congenital Tracheal Stenosis
Abnormal tracheobronchial morphology, Abnormal bronchus morphology, Respiratory distress, Meckel ... ORPHA:141127
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Dandy-Walker malformation, Microcephaly, Hypoplasia of the pons, Agenesis... OMIM:618736
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis ORPHA:2022
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Cerebral atrophy, Microphthalmia, Microcephaly, Agenesis of corpus callosum OMIM:274270
Oculocerebrocutaneous Syndrome
Microphthalmia, Cleft palate, Anophthalmia OMIM:164180
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity, Global brain atrophy, Abnormal basal ganglia MRI signal i... ORPHA:363558
Infantile Myofibromatosis
Intestinal obstruction, Abnormal intestine morphology, Tracheoesophageal fistula ORPHA:2591
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Cataract, Hyp... OMIM:310600
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence seizure, Myoclon... OMIM:616346
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Feingold Syndrome 2
Intestinal atresia OMIM:614326
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Retinitis Pigmentosa 71
Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... OMIM:616394
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Spastic gait, Hypertonia, Cogwheel rigidity, Microcephaly, Dystonia, Attention deficit hyperactiv... OMIM:618284
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypoplasia of the corpus callosum, Secondary microcephaly, Hypertonia, Polymicrogyria, Seizure, C... OMIM:615282
Pituitary Carcinoma
Enlarged pituitary gland, Pituitary gonadotropic cell adenoma, Diabetes insipidus, Increased circ... ORPHA:300385
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Focal hemifacial clonic seizure, Seizure, Writer's cramp, Paroxysmal dystonia ORPHA:163727
Microphthalmia/Coloboma 12
Microphthalmia, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colob... OMIM:120200
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Dystonia With Cerebellar Atrophy
Torticollis, Craniofacial dystonia, Cerebellar atrophy, Dystonia, Dysphagia OMIM:611694
Mandibulofacial Dysostosis, Guion-Almeida Type
Cleft palate, Esophageal atresia, Respiratory distress OMIM:610536
Cach Syndrome
Cerebral atrophy, T2 hypointense thalamus, Globus pallidus hypointensity on susceptibility-weight... ORPHA:135
Hyperprolinemia, Type I
Hyperactivity, EEG abnormality, Motor stereotypy, Aggressive behavior OMIM:239500
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Microphthalmia, Retinal detachment, Bilateral cleft palate, Chorioretinal coloboma ORPHA:1473
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Diarrhea, Crohn's disease, Optic neuritis, Thyroiditis, Atopic dermatitis, Eczematoid dermatitis,... ORPHA:436159
Hemidystonia-Hemiatrophy Syndrome
Abnormal basal ganglia MRI signal intensity, Seizure, Limb dystonia, Abnormal periventricular whi... ORPHA:306741
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Microcephaly, Hypoplas... ORPHA:370959
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Bifid uvula, Cleft palate, Retinal vascular tortuosity OMIM:618768
Dystonia 25
Laryngeal dystonia, Lingual dystonia, Torticollis, Limb dystonia OMIM:615073
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Spermatogenic Failure 64
Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti... OMIM:619696
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Congenital pyloric atresia OMIM:612138
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia ORPHA:137634
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Rigidity, Myoclonus OMIM:619057
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Amenorrhea, Anterior hypopituitarism, Panhypopituitarism, Oligozoosperm... ORPHA:91351
Dystonia 23
Writer's cramp, Torticollis, Axial dystonia, Cerebellar atrophy, Limb dystonia, Head tremor, Cere... OMIM:614860
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Oliver-Mcfarlane Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of penis, Cryp... OMIM:275400
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Dysplastic corpus callosum, Secondary microcephaly, Seizure, Spasticity, Bilateral tonic-clonic s... OMIM:620317
Foxg1 Syndrome
Hypoplasia of the corpus callosum, Focal-onset seizure, Progressive microcephaly, Infantile spasm... ORPHA:561854
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Dysphagia OMIM:617839
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Pendred Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque... ORPHA:705
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Respiratory distress, Anal atresia, Tracheoesophageal fistula, Intestinal ... ORPHA:210122
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic oral candidiasis, Premature ovarian insufficiency, Hypoparathyroidism, Cholelithiasis, Ch... OMIM:240300
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized myoclonic seizure, Generalized-onset seizure, Tremor, Dysphagia, Myoclonus, Degenerat... OMIM:159950
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Hypoplasia of the corpus callosum, Spastic paraplegia, Dystonia, Abnormal cerebral white matter m... OMIM:615030
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Esophageal Atresia
Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Respirato... ORPHA:1199
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Torticollis, Writer's cramp, Compulsive behaviors, Dystonia, Myoclonus, Limb my... ORPHA:36899
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Benign Schwannoma
Abnormal parotid gland morphology, Intestinal polyposis, Abnormal esophagus morphology ORPHA:252164
Developmental And Epileptic Encephalopathy 13
Cerebral atrophy, Generalized clonic seizure, Generalized non-motor (absence) seizure, Epileptic ... OMIM:614558
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Hypoplasia of the corpus callosum, Periventricular leuko... ORPHA:485350
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Agitation, Thin corpus callosum, Tremor, Compulsive behaviors, Axial hypotonia, Dystonia, Myoclonus OMIM:619651
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Pituita... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Pituita... ORPHA:71526
Spinocerebellar Ataxia, Autosomal Recessive 29
Lower limb spasticity, Eye of the tiger anomaly of globus pallidus, Cerebellar vermis atrophy, Se... OMIM:619389
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Microphthalmia, Optic nerve hypoplasia, Microcephaly, Agenesis... OMIM:617914
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:91354
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebral atrophy, T2 hypointense thalamus, Generalized myoclonic seizure, Seizure, Cerebellar atr... ORPHA:1947
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Anteverted ears, Synophrys, Macrotia, Motor stereotypy, Aggressive behavior OMIM:615541
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction
Cerebral atrophy, Spasticity, Spastic tetraparesis, Cerebellar atrophy, Microcephaly, Dystonia OMIM:620515
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Cerebral atrophy, Epileptic spasm, Secondary microcephaly, Seizure, Stereotypical hand wringing, ... OMIM:618497
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Retinal dystrophy, Anophthalmia, High palate, Chorioretinal coloboma ORPHA:139471
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Tremor, Low-set ears, Motor stereotypy, Self-injurious behavior... OMIM:618718
Braddock-Carey Syndrome 2
Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia OMIM:619981
Developmental And Epileptic Encephalopathy 57
Hypoplasia of the corpus callosum, Epileptic spasm, Generalized myoclonic seizure, Thin corpus ca... OMIM:617771
Primary Dystonia, Dyt27 Type