Gene Summary

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

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

Download data as:  TSV  XLS

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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.

Phenotype associated images not available

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
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Tracheoesophageal fistula, Esophageal atresia ORPHA:77298
Septo-Optic Dysplasia Spectrum
Constipation, Tracheoesophageal fistula, Esophageal atresia, Cleft palate ORPHA:3157
Microphthalmia, Syndromic 3
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Microphthalmia, Anophthalmia, Microcep... OMIM:206900

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Hypoplasia of the brainstem, Cerebellar hypoplasia, Retinal dysplasia, Microphthalmia, Microcephaly OMIM:615771
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Premature Ovarian Failure 12
Microphthalmia, Macular dystrophy OMIM:616947
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Odontoma-Dysphagia Syndrome
Dysphagia, Abnormal esophagus morphology OMIM:164330
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia, Chorioretinal dysplasia OMIM:616335
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, Retinal detachment OMIM:615113
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia OMIM:611638
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Infertility, Decreased circulating ACTH level, Amenorrhea, Pituitary hypothyr... ORPHA:95619
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Dystonia 30
Hypothalamic hamartoma, Dystonia, Loss of ability to walk, Seizure, Writer's cramp, Torticollis, ... OMIM:619291
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation, Microphthalmia ORPHA:35612
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Prolactin Deficiency, Isolated
Reduced circulating prolactin concentration, Infertility, Irregular menstruation OMIM:264110
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Anterior hypopituitarism, Pit... ORPHA:91348
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Microphthalmia ORPHA:1574
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Unilateral microphthalmos, Optic disc hypoplasia, Aplasia/Hypoplasia of t... ORPHA:137902
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification, Limb ataxia, Hypertonia, Bradykinesia, Seizure, Basal ganglia calcificati... OMIM:618824
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophagitis, Eosinophilic microabscess formation in the esophagus, Esophageal stenosis, Allergic ... ORPHA:411696
Gluteal Muscles, Absence Of
Optic nerve hypoplasia OMIM:231970
Pituitary Hormone Deficiency, Combined, 2
Panhypopituitarism, Hypothyroidism, Adrenal insufficiency, Reduced circulating prolactin concentr... OMIM:262600
Hypothyroidism, Central, With Testicular Enlargement
Reduced circulating prolactin concentration, Hypothyroidism, Inappropriately normal thyroid-stimu... OMIM:300888
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Premature graying of hair, Intention tremor OMIM:190200
Macrosomia With Microphthalmia, Lethal
Median cleft palate, Microphthalmia OMIM:248110
Thyroid Hormone Metabolism, Abnormal
Elevated circulating thyroid-stimulating hormone concentration OMIM:609698
Spermatogenic Failure 3
Infertility OMIM:606766
Oocyte Maturation Defect 3
Infertility OMIM:617712
Oocyte Maturation Defect 4
Infertility OMIM:617743
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Dystonia, Abnormality of the basal ganglia, Decreased thalamic volume, Spastic... OMIM:618646
Pituitary Adenoma, Prolactin-Secreting
Pituitary prolactin cell adenoma, Prolactinoma OMIM:600634
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Craniotelencephalic Dysplasia
Arrhinencephaly, Cerebellar hypoplasia, Optic nerve hypoplasia, Microphthalmia, Agenesis of corpu... OMIM:218670
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Abnormality of circulating adrenocor... ORPHA:251623
Eosinophilic Esophagitis
Esophageal stenosis, Spontaneous esophageal perforation, Dysphagia, Gastroesophageal reflux, Abno... ORPHA:73247
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Bilateral breast hyp... ORPHA:52901
Laryngotracheoesophageal Cleft Type 4
Respiratory insufficiency, Laryngomalacia, Tracheal stenosis, Intestinal atresia, Tracheoesophage... ORPHA:93941
Anaplastic Thyroid Carcinoma
Dyspnea, Respiratory distress, Dysphagia, Cough, Laryngotracheal stenosis, Upper airway obstructi... ORPHA:142
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Cough ORPHA:99977
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Autosomal Recessive Spastic Paraplegia Type 56
Spastic paraplegia, Dystonia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter m... ORPHA:320411
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Head tremor, Torticollis, Abnormal motor neuron morphology, L... OMIM:613724
Isolated Growth Hormone Deficiency, Type Ib
Decreased response to growth hormone stimuation test OMIM:612781
Gastric Cancer
Stomach cancer OMIM:613659
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Chronic diarrhea, Ileitis, Protein-losing enteropathy, Pancolitis, Gastr... OMIM:619079
Microcephaly 20, Primary, Autosomal Recessive
Microcephaly, Optic nerve hypoplasia, Microphthalmia OMIM:617914
Gastroschisis
Intestinal atresia ORPHA:2368
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hearing impairment, Hy... ORPHA:42665
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Apraxia, Hypoplasia of the corpus callosum, Gait disturbance, Seizure, C... OMIM:618193
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Optic Nerve Hypoplasia, Bilateral
Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic ner... OMIM:165550
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Dystonia, Neurodegeneration, Ataxia, Progressive leukoencephalopathy, Periventri... OMIM:615889
Perching Syndrome
Dysphagia, High palate, Respiratory distress, Depressed nasal bridge OMIM:617055
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, Mi... OMIM:308700
Autism, Susceptibility To, X-Linked 3
EEG abnormality, Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
EEG abnormality, Stereotypy OMIM:300495
Autism, Susceptibility To, X-Linked 1
EEG abnormality, Stereotypy OMIM:300425
Autism
EEG abnormality, Stereotypy OMIM:209850
Autism, Susceptibility To, 8
EEG abnormality, Stereotypy OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
EEG abnormality, Stereotypy OMIM:608636
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Ataxia, Abnormal corpus callosum morphology, Seizure, Cortical dysplasia, Stere... OMIM:618709
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Generalized hypotonia, Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Seizu... OMIM:617862
Hemidystonia-Hemiatrophy Syndrome
Dystonia, Abnormal periventricular white matter morphology, Abnormal pyramidal sign, Hemiparesis,... ORPHA:306741
Carcinoma Of Esophagus
Dysphagia, Cough, Gastroesophageal reflux, Esophageal neoplasm, Abnormal intestine morphology, Ba... ORPHA:70482
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimuation test OMIM:262710
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimuation test OMIM:300123
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Neuroferritinopathy
T2 hypointense thalamus, Dystonia, Palatal myoclonus, Chorea, Resting tremor, Iron accumulation i... ORPHA:157846
Isolated Growth Hormone Deficiency, Type Ia
Impaired growth-hormone response to insulin stimulation test, Decreased response to growth hormon... OMIM:262400
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar hypoplasia, Optic nerve hypoplasia, Microphthalmia, Retinal detachment, Hypoplasia of ... OMIM:615181
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Micropenis, Dec... OMIM:308750
Delpire-Mcneill Syndrome
Dysphagia, Tracheoesophageal fistula OMIM:619083
Amyotrophic Lateral Sclerosis 4, Juvenile
Difficulty walking, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degene... OMIM:602433
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia ORPHA:1068
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... ORPHA:95513
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Cerebral atrophy, Cerebellar hypopl... OMIM:251270
Amyotrophic Lateral Sclerosis 2, Juvenile
Dystonia, Upper limb spasticity, Spastic tetraparesis, Abnormal lower motor neuron morphology, Sp... OMIM:205100
Developmental And Epileptic Encephalopathy 7
Dystonia, Generalized hypotonia, Hypoplasia of the corpus callosum, Spastic tetraparesis, Seizure... OMIM:613720
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Breast hypoplasia, Absence of secondary sex characteristics, Primary amenorrhea, Hypothalamic gon... ORPHA:2235
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... ORPHA:95512
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Microphthalmia, Retinal detachment OMIM:212550
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Peripheral vitreous opacities,... OMIM:305390
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Cerebellar hypoplasia ORPHA:65288
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia,... ORPHA:83461
Isolated Growth Hormone Deficiency, Type Ii
Decreased response to growth hormone stimuation test OMIM:173100
Gastric Cancer, Hereditary Diffuse
Stomach cancer, Chronic atrophic gastritis, Cleft palate OMIM:137215
Rare Non-Syndromic Intellectual Disability
Dystonia, Generalized hypotonia, Absent septum pellucidum, Difficulty walking, Hypoplasia of the ... ORPHA:101685
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Craniotelencephalic Dysplasia
Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Microphthalmia, Microcephaly, Opti... ORPHA:1528
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Foveal Hypoplasia 2
Foveal hyperpigmentation, Hypoplasia of the fovea, Optic nerve misrouting, Microphthalmia OMIM:609218
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Diffuse white matter abnormalities, Dystonia, Generalized hypotonia, Secondary microcephaly, Seiz... OMIM:616763
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Intractable diarrhea, Congenital pyloric atresia, Death in infancy, Esophageal atresia OMIM:226730
Jejunal Atresia
Jejunal atresia OMIM:243600
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Amenorrhea... ORPHA:251937
Fanconi Anemia, Complementation Group Q
Esophageal atresia OMIM:615272
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Impaired growth-hormone response to insulin stimulation test, Decr... OMIM:618157
Methimazole Embryofetopathy
Tracheoesophageal fistula, Choanal atresia, Esophageal atresia ORPHA:1923
Ane Syndrome
Abnormal response to ACTH stimulation test, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:157954
Microphthalmia, Isolated 6
Retinal fold, Microphthalmia OMIM:613517
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Scoliosis, Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Dysphag... OMIM:614399
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Gombo Syndrome
Microcephaly, Microphthalmia OMIM:233270
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Heterochromia iridis, Premature graying of hair, White eyeb... OMIM:611584
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Cerebral cortical atrophy, Tortico... OMIM:614860
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Emphysema, Congenital Lobar
Bronchial cartilage hypoplasia, Respiratory distress OMIM:130710
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cerebral atrophy, Microphthalmia, Microcephaly, Optic atrophy, Retinopathy, Opti... OMIM:616171
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia, Cerebellar hypoplasia, Microphthalmia OMIM:614830
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Generalized hypotonia, Degeneration of anterior horn cells, Ataxia, Neuron... OMIM:607596
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Optic nerve hypoplasia, Agenesis of corpus callosum ORPHA:250972
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Cystoid macular degeneration, Microphthalmia, Retinal degeneration OMIM:267760
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Severe muscula... ORPHA:178469
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Hemi... OMIM:617542
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Cough, Gastroesophageal reflux, Barrett esophagus ORPHA:99976
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Dystonia, Tetraparesis, Ataxia, Status epilepticus, Seizure, Abnormality of the basal ganglia, Sp... ORPHA:263410
Arthrogryposis, distal, with hypopituitarism, mental retardation,and facial anomalies
Anterior hypopituitarism, Decreased response to growth hormone stimuation test OMIM:208080
Hypothyroidism, Congenital, Nongoitrous, 8
Secondary amenorrhea, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Generalized hypotonia, Hypotonia, Absent septum pellucidum, Hypoplasia of the corpus ca... ORPHA:88616
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Variant Abeta2M Amyloidosis
Gastrointestinal infarctions, Abnormality of the tongue, Intestinal perforation, Abnormal salivar... ORPHA:314652
Ménétrier Disease
Multiple gastric polyps, Gastrointestinal hemorrhage, Helicobacter pylori infection, Peripheral e... ORPHA:2494
Autosomal Dominant Focal Dystonia, Dyt25 Type
Axial dystonia, Craniofacial dystonia, Lingual dystonia, Laryngeal dystonia, Torticollis, Focal d... ORPHA:329466
Huntington Disease-Like 2
Dystonia, Chorea, Gait disturbance, Caudate atrophy, Cerebral cortical atrophy, Abnormal cerebral... ORPHA:98934
Non-Acquired Panhypopituitarism
Infertility, Decreased circulating ACTH level, Ectopic anterior pituitary gland, Amenorrhea, Abse... ORPHA:90695
Septooptic Dysplasia
Optic disc hypoplasia, Optic nerve hypoplasia, Agenesis of corpus callosum OMIM:182230
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Generalized hypotonia, Tetraparesis, Ataxia, Dysplastic corpus callo... OMIM:618276
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Dystonia, Microcephaly, Muscular hypotonia of the trunk, Spastic tetraplegia, Secondary microceph... OMIM:251280
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia, Cleft palate OMIM:221950
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Microphthalmia, Isolated 5
Optic disc drusen, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Cystoid macular edema,... OMIM:611040
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Dystonia, Hypoplasia of the corpus callosum, Chorea, Cerebral atrophy, Hyperki... OMIM:614254
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Paraparesis, Cerebral atrophy, Tetraparesis, Abnormal lower motor neuron morphology, Amy... OMIM:105550
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia ORPHA:3233
Coffin-Siris Syndrome 11
Bulbous nose, Esophageal atresia, Bifid uvula, High palate, Cleft soft palate, Depressed nasal br... OMIM:618779
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:311895
Martinez-Frias Syndrome
Intestinal hypoplasia, Intestinal malrotation, Jejunal atresia, Duodenal atresia, Tracheoesophage... OMIM:601346
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Dystonia, Cerebral atrophy, Ankle clonus, Bradykinesia, Infantile axial hypotonia, Cerebe... ORPHA:521406
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormality of the gastric mucosa OMIM:175505
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Focal-onset seizure, Chorea, Poor coordination, Paroxysmal dyskinesia, Ventriculomegaly... OMIM:619150
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Dystonia, Abnormal cerebral white matter morphology, Ataxia, Muscular hypoto... OMIM:607317
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Cerebral atrophy, Tetraparesis, Abnormal pyramidal sign, Ataxia, Seizure, Myocl... OMIM:615924
Leukodystrophy, Hypomyelinating, 14
Dystonia, Generalized hypotonia, Cerebral atrophy, Seizure, Cerebellar atrophy, Microcephaly, Spa... OMIM:617899
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Abnormal cerebral white matter morphology, Ventriculomegaly, Ataxi... ORPHA:248111
Joubert Syndrome 26
Panhypopituitarism, Central hypothyroidism, Micropenis, Decreased response to growth hormone stim... OMIM:616784
Developmental And Epileptic Encephalopathy 16
Dystonia, Generalized hypotonia, Abnormality of extrapyramidal motor function, Cerebral atrophy, ... OMIM:615338
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the corpus callosum, Focal-onset seizure, Cerebral cortical atrophy, Myoclonic seiz... OMIM:619072
Bilateral Generalized Polymicrogyria
Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Generalized-on... ORPHA:208447
Idiopathic Uveal Effusion Syndrome
Exudative retinal detachment, Retinal fold, Subretinal fluid, Microphthalmia ORPHA:209956
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Ataxia, Cerebral cortical atrophy, Parkinsonism, Babinski sign OMIM:615911
Combined Oxidative Phosphorylation Deficiency 39
Dystonia, Pachygyria, Ventriculomegaly, Simplified gyral pattern, Involuntary movements, Microcep... OMIM:618397
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Dystonia, Cerebral atrophy, Hyperkinetic movements, Seizure, Myoclonus, Second... OMIM:618497
Isolated Growth Hormone Deficiency, Type V
Microcephaly, Decreased response to growth hormone stimuation test OMIM:618160
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal stomach morphology, Abnormal lung lobation, Morphological abnormali... ORPHA:141127
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Globozoospermia, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Degeneration of anterior horn cells, Seizure, Tongue fasciculations, ... OMIM:159950
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Dystonia, Generalized hypotonia, Hypoplasia of the corpus callosum, Seizure, C... OMIM:617820
Oliver-Mcfarlane Syndrome
Cryptorchidism, Delayed puberty, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased re... OMIM:275400
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, B... OMIM:602099
Fryns Microphthalmia Syndrome
Microphthalmia, Bilateral cleft lip and palate, Anophthalmia OMIM:600776
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, G... ORPHA:98807
Fanconi Anemia, Complementation Group L
Esophageal atresia, Wide nasal bridge, Anal atresia, Cleft palate, Tracheoesophageal fistula, Dep... OMIM:614083
Barrett Esophagus
Esophageal carcinoma, Esophageal ulceration, Gastroesophageal reflux, Barrett esophagus OMIM:614266
Bonnemann-Meinecke-Reich Syndrome
Microcephaly, Cerebral calcification, Decreased response to growth hormone stimuation test ORPHA:1261
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Ventriculomegaly, Muscular hypotonia of the trunk, Seizure, Cerebral cortical atrophy, ... OMIM:617669
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Abnormal... ORPHA:95613
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Gait disturbance, Cerebral atrophy, Ankle clonus, Bradykinesia, Muscular hypoto... OMIM:617013
Developmental And Epileptic Encephalopathy 69
Inability to walk, Dystonia, Corpus callosum atrophy, Hyperkinetic movements, Muscular hypotonia ... OMIM:618285
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Cerebral atrophy, Abnormal ... OMIM:607208
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Dystonia, Diffuse cerebellar atrophy, Abnormality of extrapyramidal motor function, A... ORPHA:352596
Developmental And Epileptic Encephalopathy 1
Dystonia, Global brain atrophy, Erratic myoclonus, Focal-onset seizure, Hypertonia, Abnormal pyra... OMIM:308350
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Seizure, Dysplastic corpus callosum, Polymic... OMIM:604213
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating T4 level, Pituitary hypothyroidism, Decreased circulating free T3, Increase... ORPHA:99832
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Type II lissencephaly, Spastic diplegia, Torticollis, Spasticity, Spastic ataxia, Hypop... ORPHA:300570
Hypergonadotropic Hypogonadism-Cataract Syndrome
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:2410
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia OMIM:614306
Lethal Osteosclerotic Bone Dysplasia
Median cleft lip and palate, Gingival fibromatosis, Short nose, Dyspnea, Respiratory distress, De... ORPHA:1832
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Seizure, Babi... ORPHA:363654
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, Hypoplastic hippocampus, Focal-onset seizure, Chorea, Myoclonic abse... OMIM:619317
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Abnormality of the dentition, Cleft palate ORPHA:3104
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
2,4-Dienoyl-Coa Reductase Deficiency
Dystonia, Hypotonia, Neonatal hypotonia, Ventriculomegaly, Cerebral atrophy, Seizure, Tetraplegia... OMIM:616034
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Abnormal lung morphology, Recurrent upper respiratory tr... ORPHA:60032
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Fasciculations, Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic la... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Fasciculations, Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic la... OMIM:616437
Spinocerebellar Ataxia Type 2
Postural tremor, Kinetic tremor, Gait ataxia, Dystonia, Cerebral white matter atrophy, Generalize... ORPHA:98756
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia, Cleft upper lip, Cleft palate OMIM:613885
Amyotrophic Lateral Sclerosis 1
Pseudobulbar paralysis, Degeneration of the lateral corticospinal tracts, Degeneration of anterio... OMIM:105400
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Heterochromia iridis, White eyebrow, Spastic paraparesis, D... OMIM:609136
Leukodystrophy, Hypomyelinating, 16
Dystonia, Gait ataxia, Generalized hypotonia, Hypoplasia of the corpus callosum, Hypertonia, Abno... OMIM:617964
Hereditary Mucoepithelial Dysplasia
Pulmonary fibrosis, Furrowed tongue, Anorectal anomaly, Tracheoesophageal fistula, Recurrent resp... ORPHA:1839
Brooke-Spiegler Syndrome
Salivary gland neoplasm, Abnormality of the submandibular glands, Abnormality of the sublingual g... ORPHA:79493
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, Bronchiectasis, Perianal abscess, Diarrhea, Gastr... OMIM:618108
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Retinal dystrophy, Anophthalmia OMIM:610125
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Pontocerebellar Hypoplasia, Type 15
Dystonia, Agenesis of corpus callosum, Hydrocephalus, Hypotonia, Focal-onset seizure, Hypertonia,... OMIM:619302
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dystonia, Hypertonia, Seizure, Myoclonus, Cerebral calcification, Microcephaly, Choreoath... OMIM:261630
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypoplasia of the corpus callosum, Hypertonia, Secondary microcephaly, Seizure, Clonic seizure, P... OMIM:615282
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimuation test OMIM:615925
Muir-Torre Syndrome
Laryngeal carcinoma, Salivary gland neoplasm, Neoplasm of the liver, Adenoma sebaceum, Neoplasm o... ORPHA:587
Juvenile Amyotrophic Lateral Sclerosis
Inability to walk, Dystonia, Axial dystonia, Clonus, Upper limb spasticity, Chorea, Hypertonia, D... ORPHA:300605
Schisis Association
Anal atresia, Tracheoesophageal fistula, Cleft palate ORPHA:63862
Intellectual Developmental Disorder, X-Linked 72
Stereotypy OMIM:300271
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Dystonia, Convulsive status epilepticus, Hypoplasia of the corpus callosum, Fo... OMIM:618760
Mohr-Tranebjaerg Syndrome
Inability to walk, Tremor, Apraxia, Dystonia, Vestibular dysfunction, Attention deficit hyperacti... ORPHA:52368
Non-Syndromic Posterior Hypospadias
Anal atresia, Esophageal atresia, Cleft palate ORPHA:95706
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Gait disturbance, Cerebral atrophy, Bradykinesia, Parkinsonism, Substantia nigr... OMIM:600116
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Cleft palate OMIM:616570
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal sputum, Dyspnea, Dysphagia, Cough, Abnormal pleura morpholo... ORPHA:2357
Mental Retardation, Autosomal Dominant 6, With Or Without Seizures
Dystonia, Generalized hypotonia, Chorea, Seizure, Microcephaly, Spasticity OMIM:613970
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Hypoplasia of the corpus callosum, Chorea... OMIM:617672
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Dystonia, Generalized hypotonia, Hypotonia, Hypoplasia of the corpus callosum,... OMIM:616756
Rhombencephalosynapsis
Short nose, Aganglionic megacolon, Esophageal atresia, Anal atresia, Anteverted nares, Tracheoeso... ORPHA:59315
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia OMIM:614526
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microcephaly, Optic nerve hypoplasia, Microphthalmia, Agenesis of corpus callosum OMIM:614833
17Q12 Microduplication Syndrome
Tracheoesophageal fistula, Cleft palate ORPHA:261272
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Generalized hypotonia, Difficulty walking, Cerebral atrophy, Seizure, Stereotypy, Microcephaly, S... OMIM:617393
Sheehan Syndrome
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Breast hypoplasia, Ameno... ORPHA:91355
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Oligomenorrhea, Pituitary hypothyroidism, Hypopituitarism, Impotence, Adrenocorticotropic hormone... ORPHA:91354
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:614373
Dystonia 6, Torsion
Torsion dystonia, Writer's cramp, Laryngeal dystonia, Torticollis, Lingual dystonia, Myoclonus, L... OMIM:602629
Esophageal Atresia
Morphological abnormality of the gastrointestinal tract, Laryngotracheomalacia, Intestinal malrot... ORPHA:1199
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Cerebellar hypoplasia, Cerebral cortical atrophy, Optic nerve hypoplasia,... ORPHA:163937
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Myoclonus, Rigidity OMIM:619057
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Inability to walk, Dystonia, Generalized hypotonia, Chorea, Ventriculomegaly, Cerebral atrophy, A... OMIM:617804
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Microphthalmia ORPHA:2432
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... OMIM:300894
Colonic Atresia
Colonic atresia OMIM:303650
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Tatton-Brown-Rahman Syndrome
Optic nerve hypoplasia OMIM:615879
Developmental And Epileptic Encephalopathy 27
Dystonia, Generalized hypotonia, Hypotonia, Chorea, Seizure, Microcephaly, Spasticity OMIM:616139
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Tremor, Incoordination, Generalize... ORPHA:36387
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, Seizure, Myoclonus, Secondary ... OMIM:617829
Usher Syndrome Type 3
Iris hypopigmentation, Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Ves... ORPHA:231183
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Dy... OMIM:618917
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration, Spastic tetraplegia OMIM:258700
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Abnormal periventricular white matter morphology, Spastic parapares... OMIM:612319
Combined Pituitary Hormone Deficiencies, Genetic Forms
Infertility, Decreased circulating ACTH level, Ectopic anterior pituitary gland, Absent septum pe... ORPHA:95494
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, Hearing impairment, Ataxia, White forelock OMIM:172850
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Generalized hypotonia, Atonic seizure, Absence seizure with ... OMIM:618587
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Ventriculomegaly, Seizure, Dysplastic corpus callosum,... ORPHA:500166
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Fasciculations, Gait disturbance, Neuronal loss in central nervous system, Amyotrophic lateral sc... OMIM:608030
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Intellectual Developmental Disorder With Autism And Speech Delay
Stereotypy OMIM:606053
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Barrett esophagus, Esophageal neoplasm OMIM:109350
Usher Syndrome Type 1
Iris hypopigmentation, Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Ves... ORPHA:231169
Mental Retardation, Autosomal Recessive 39
Anteverted ears, Macrotia, Synophrys, Stereotypy, Hyperactivity OMIM:615541
Polymicrogyria Due To Tubb2B Mutation
Cortical dysplasia, Cavum septum pellucidum, Oromotor apraxia, Pachygyria, Hypoplasia of the corp... ORPHA:300573
5Q14.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Agenesis of cerebellar vermis, Optic nerve hypoplasia, Frontal... ORPHA:228384
Spastic Paraplegia 45, Autosomal Recessive
Spastic paraplegia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Lower limb spa... OMIM:613162
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Tremor, Dystonia, Difficulty walking, Focal-onset seizure, Bilateral tonic-clo... ORPHA:330050
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Dystonia, Abnormal caudate nucleus morphology, Parkinsonism with favorab... ORPHA:314632
Cirrhosis, Familial
Pulmonary arterial hypertension, Esophageal varix OMIM:215600
Norrie Disease
Hypoplasia of the iris, Retinal dysplasia, Microphthalmia, Retinal detachment, Optic atrophy, Ret... OMIM:310600
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Facial hypotonia, Abnormal periventricular white matter morphology, Hypotonia, Difficul... ORPHA:280763
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Optic nerve hypoplasia OMIM:618890
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic paraparesis, Hypoplasia of the corpus callosum, Gait disturbance, Neurodegenera... OMIM:615643
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Seizure precipitated by febrile infection, Global bra... ORPHA:363558
Fanconi Anemia, Complementation Group B
Death in infancy, Esophageal atresia, Duodenal atresia, Tracheoesophageal fistula, Abnormal lung ... OMIM:300514
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Recurrent sinusitis, Chronic atrophic gastritis, Recurrent pneumonia, Recurrent s... OMIM:616576
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Choanal atresia, Esophageal atresia, Duodenal atresia, Tracheoesophageal fistula, Wide nose, Subm... OMIM:619227
Lissencephaly 3
Pachygyria, Generalized hypotonia, Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, S... OMIM:611603
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614880
Spastic Paraplegia 47, Autosomal Recessive
Spastic paraplegia, Inability to walk, Dystonia, Abnormal periventricular white matter morphology... OMIM:614066
Aicardi-Goutieres Syndrome 2
Spastic paraplegia, Dystonia, Cerebral atrophy, Basal ganglia calcification, Microcephaly OMIM:610181
Myasthenic Syndrome, Congenital, 6, Presynaptic
Sudden episodic apnea, Respiratory distress, Dysphagia, Respiratory insufficiency due to muscle w... OMIM:254210
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Hyperprolactinemia
Infertility, Menorrhagia, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Glandular hypospadias, Diarrhea, Gastritis, Hypospadias, Shawl scrotum ORPHA:2575
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Chromosome 19P13.13 Deletion Syndrome
Microcephaly, Optic atrophy, Optic nerve hypoplasia OMIM:613638
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Dystonia, Generalized hypotonia, Difficulty walking, Hemiparesis, Bradykinesia, Brain atr... ORPHA:306669
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Ataxia, Enlarged vestibular aqueduct, Sensorineural hearing i... ORPHA:705
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum, Dandy-Walker malformation, Hyp... OMIM:618736
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Basal ganglia cysts, Dystonia, Lethargy, Generalized hypotonia, Ventriculomegaly... OMIM:312170
Developmental And Epileptic Encephalopathy 58
Inability to walk, Generalized hypotonia, Spastic diplegia, Seizure, Status epilepticus, Stereoty... OMIM:617830
Lopes-Maciel-Rodan Syndrome
Tremor, Dystonia, Hypertonia, Cerebral atrophy, Abnormal pyramidal sign, Ankle clonus, Bradykines... OMIM:617435
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Short nose, Choanal atresia, Esophageal atresia, Cleft palate, Anteverted n... OMIM:610536
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
Feingold Syndrome
Duodenal atresia, Anteverted nares, Esophageal atresia, Depressed nasal bridge ORPHA:1305
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Focal-onset seizure, Hemiparesis, Bilateral tonic-clonic seizure, Focal at... ORPHA:101071
Pontocerebellar Hypoplasia, Type 2B
Dystonia, Generalized hypotonia, Hypotonia, Clonus, Hypoplasia of the corpus callosum, Chorea, Ce... OMIM:612389
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Ataxia, Paralysis, Seizure, Myoclonus, Babinski sign,... OMIM:606777
Cocaine Embryofetopathy
Intestinal atresia ORPHA:1911
Infantile Myofibromatosis
Abnormal intestine morphology, Intestinal obstruction, Tracheoesophageal fistula, Neoplasm of the... ORPHA:2591
Dystonia 28, Childhood-Onset
Dystonia, Gait disturbance, Spasticity, Toe walking, Craniofacial dystonia, Laryngeal dystonia, T... OMIM:617284
Bronchopulmonary Dysplasia
Pulmonary sequestration, Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system... ORPHA:70589
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Dystonia 25
Lingual dystonia, Laryngeal dystonia, Torticollis, Limb dystonia OMIM:615073
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Oligospermia, Amenorrhea, Enlarged pituitary gland, Oligomenorrhea, Neoplasm ... ORPHA:91351
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Cryptosporidiosis
Respiratory tract infection, Wheezing, Gastrointestinal obstruction, Respiratory distress, Dyspha... ORPHA:1549
Familial Infantile Bilateral Striatal Necrosis
Basal ganglia gliosis, Basal ganglia cysts, Atrophy/Degeneration involving the caudate nucleus, C... ORPHA:225154
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Delay... OMIM:614963
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Clumsiness, Po... ORPHA:79264
Pulmonary Blastoma
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough, Hemoptysis, Pulmonary infiltrates ORPHA:64741
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Dystonia, Abnormal pyramidal sign, Hypointensity of cerebral white matter on MRI, Ataxia OMIM:619196
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased circulating ACTH level, Decreased circulating follicle stimulating ... ORPHA:226307
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Abnormality of extrapyramidal motor function, Hypoplasi... ORPHA:500180
Pontocerebellar Hypoplasia, Type 14
Dystonia, Focal-onset seizure, Hypertonia, Bilateral tonic-clonic seizure, Infantile spasms, Myoc... OMIM:619301
Continuous Spikes And Waves During Sleep
Dystonia, Clumsiness, Speech apraxia, Atonic seizure, Focal-onset seizure, Hyperkinetic movements... ORPHA:725
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Babinski sign, Stereotypy, Spasticity OMIM:612069
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Tracheoesophageal fistula, Esophageal atresia ORPHA:77298
Trichothiodystrophy 5, Nonphotosensitive
Global brain atrophy, Cerebellar hypoplasia, Retinal dystrophy, Optic nerve hypoplasia, Microceph... OMIM:300953
Neurodevelopmental Disorder With Involuntary Movements
Dystonia, Generalized hypotonia, Hypoplasia of the corpus callosum, Chorea, Cerebral atrophy, Hyp... OMIM:617493
Chronic Granulomatous Disease
Chronic pulmonary obstruction, Recurrent respiratory infections, Sinusitis, Tracheoesophageal fis... ORPHA:379
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Manitoba Oculotrichoanal Syndrome
Anteriorly placed anus, Anophthalmia, Microphthalmia, Anal stenosis OMIM:248450
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Apraxia, Choreoathetosis, Lethargy, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis,... ORPHA:71277
Cap Polyposis
Hematochezia, Constipation, Chronic atrophic gastritis, Colorectal polyposis, Diarrhea ORPHA:160148
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Generalized hypotonia, Corpus callosum atrophy, Cerebral atrophy, Ataxia, Seizure, Cere... OMIM:618088
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Difficulty walking, Cerebral cortical atrophy, Lower limb spasticity... ORPHA:401820
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Dystonia, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Cerebellar atr... ORPHA:139485
3-Methylglutaconic Aciduria Type 1
Dystonia, Spastic tetraparesis, Seizure, Progressive cerebellar ataxia, Abnormality of the basal ... ORPHA:67046
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Anal atresia, Volvulus, Pulm... ORPHA:210122
Caribbean Parkinsonism
Dystonia, Apraxia, Progressive gait ataxia, Ventriculomegaly, Midline brain calcifications, Brady... ORPHA:97355
Familial Acute Necrotizing Encephalopathy
Abnormality of thalamus morphology, Hypertonia, Gait disturbance, Seizure, Spastic tetraplegia, A... ORPHA:88619
Leukodystrophy, Hypomyelinating, 18
Progressive spasticity, Dystonia, Abnormal periventricular white matter morphology, Seizure, Cere... OMIM:618404
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Retinal dystrophy ORPHA:231736
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724
Spinocerebellar Ataxia Type 17
Dystonia, Generalized cerebral atrophy/hypoplasia, Cerebellar Purkinje layer atrophy, Chorea, Gai... ORPHA:98759
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Elevated circulating follicle stimulating hormone level, Male hypogona... OMIM:240950
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Microphthalmia, Microcephaly, Optic atrophy, Agenesis of corpus callosum OMIM:274270
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Cerebral cortical atrophy, Microcephaly, Hypoplasia of the corpus callosum, Optic nerve hypoplasia OMIM:617864
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Macroorchidi... ORPHA:8
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Seizure, Polymicrogyria, Subcortical band heterotopia, Agenesis ... OMIM:600348
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Muscular hypotonia of the trunk, Seizure, Polymicrogyria, Cort... OMIM:614039
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Morning glory anomaly, Microphth... OMIM:120200
Alg13-Cdg
Generalized hypotonia, Clumsiness, Global brain atrophy, Abnormal lateral ventricle morphology, I... ORPHA:324422
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Cleft upper lip, Cleft palate OMIM:120433
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Rasmussen Subacute Encephalitis
Global brain atrophy, Generalized convulsive status epilepticus, Bilateral tonic-clonic seizure w... ORPHA:1929
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Chorea, Cerebral atrophy, Poor fine motor coordination, Ataxia, Bra... ORPHA:79263
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia, Cleft palate OMIM:164180
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Inability to walk, T2 hypointense thalamus, Gait ataxia, Clumsiness, Cerebral atrophy, Bilateral ... ORPHA:1947
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... OMIM:102200
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Silver-gray hair, Accumulation of melanosomes in mela... OMIM:607624
Mental Retardation, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia, Stereotypy OMIM:617270
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dystonia, Gait ataxia, Spastic ataxia, Cerebral cortical atrophy, Progressive cerebellar ataxia, ... ORPHA:314603
Foxg1 Syndrome
Inability to walk, Dystonia, Choreoathetosis, Pachygyria, Hypotonia, Difficulty walking, Hypoplas... ORPHA:561854
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Slowed slurred speech, Cochlear degeneration, Ataxia OMIM:172500
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Dystonia, Episodic quadriplegia, Ataxia, Seizure, Status epilepticus, Tetraplegia, Ch... OMIM:614820
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency, Decreased response to ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency, Decreased response to ... ORPHA:71526
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Benign Schwannoma
Nasal polyposis, Abnormality of the larynx, Abnormal esophagus morphology, Abnormal parotid gland... ORPHA:252164
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Septo-Optic Dysplasia Spectrum
Constipation, Tracheoesophageal fistula, Esophageal atresia, Cleft palate ORPHA:3157
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin, Athetosis, Spasticity OMIM:257800
Tay-Sachs Disease
Dystonia, Clumsiness, Global brain atrophy, Poor fine motor coordination, Ventriculomegaly, Ankle... ORPHA:845
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Sensorineural hearing impairment, Heterochromia iridis, Premature graying of hair ORPHA:66633
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Dystonia, Temporal cortical atrophy, Frontal cortical atrophy, Gait disturbance, Amyotrophic late... OMIM:167320
Developmental And Epileptic Encephalopathy 38
Dystonia, Generalized hypotonia, Hypertonia, Ataxia, Status epilepticus OMIM:617020
Machado-Joseph Disease Type 3
Dystonia, Clumsiness, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor fun... ORPHA:276244
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Dy... ORPHA:70474
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Seizure, Paroxysmal dystonia, Focal hemifacial clonic seizure, Writer's cramp ORPHA:163727
Congenital Contractural Arachnodactyly
High palate, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula ORPHA:115
Dystonia With Cerebellar Atrophy
Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Torticollis, Cerebellar atrophy OMIM:611694
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Azoospermia, Hyp... OMIM:612885
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears, Stereotypy, Hyperactivity OMIM:609425
Feingold Syndrome 2
Intestinal atresia OMIM:614326
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis ORPHA:2022
Mental Retardation, Autosomal Recessive 6
Tremor, Dystonia, Seizure, Myoclonus, Involuntary movements OMIM:611092
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... ORPHA:2885
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Intestinal malrotation, Respiratory distress ORPHA:2140
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, High palate, Narrow mouth ORPHA:2528
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita... ORPHA:300385
Tracheobronchopathia Osteochondroplastica
Esophagitis, Abnormal sputum, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Re... ORPHA:3348
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Amyotrophic lateral sclerosis, Parkinsonism, Abnormal lower motor neuron morphology, Paralysis OMIM:105500
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Chorea, Paroxysmal dyskinesia, Ataxia, Seizure, Generalized non-motor... ORPHA:98811
Sirenomelia
Anal atresia, Tracheoesophageal fistula ORPHA:3169
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Iridocyclitis, Decreased circulating parathyroid hormone level, Chronic oral c... OMIM:240300
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Dysphagia, Colitis, Diarrhea, Eczema, Art... OMIM:608809
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Olivopontocerebellar hypoplasia, Cerebellar hypoplasia, Optic nerve ... ORPHA:370959
Amyotrophic Lateral Sclerosis 18
Fasciculations, Amyotrophic lateral sclerosis, Spasticity OMIM:614808
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Dystonia, Global brain atrophy, Bradykinesia, Frontotemporal cerebra... OMIM:612953
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress, Abnormal trachea morphology, Laryngomalacia OMIM:150280
Multiple Mitochondrial Dysfunctions Syndrome 6
Dystonia, Generalized hypotonia, Ataxia, Seizure, Cerebellar atrophy, Leukoencephalopathy, Dysmet... OMIM:617954
Tracheopathia Osteoplastica
Recurrent pneumonia, Wheezing, Dyspnea, Cough, Hemoptysis OMIM:189961
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Gonadotropin deficiency, Adrenal hypoplasia, Adrenal insufficiency, Adrenocorticotropic hormone d... OMIM:609734
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia ORPHA:137634
Gabriele-De Vries Syndrome
Tremor, Dystonia, Ventriculomegaly, Abnormal cerebral white matter morphology, Waddling gait OMIM:617557
Congenital Varicella Syndrome
Cerebral cortical atrophy, Microcephaly, Microphthalmia ORPHA:291
Aspergillosis
Pleuritis, Bronchiectasis, Cough, Abnormal esophagus morphology, Pneumonia, Abnormal tracheobronc... ORPHA:1163
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Spinal Muscular Atrophy, Type Iii
Tongue fasciculations, Hand tremor, Limb fasciculations, Degeneration of anterior horn cells OMIM:253400
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Leukoencephalopathy, Cystic, Without Megalencephaly
Dystonia, Ventriculomegaly, Ataxia, Seizure, Cerebral calcification, Leukoencephalopathy, Microce... OMIM:612951
Aicardi-Goutieres Syndrome 3
Dystonia, Generalized hypotonia, Hypotonia, Hypoplasia of the corpus callosum, Abnormal cerebral ... OMIM:610329
Spastic Paraplegia 54, Autosomal Recessive
Hypoplasia of the corpus callosum, Optic nerve hypoplasia OMIM:615033
Axial Mesodermal Dysplasia Spectrum
Morphological abnormality of the gastrointestinal tract, Constipation, Gastroesophageal reflux, A... ORPHA:1834
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Upper limb spasticity, Hypoplasia of the corpus callosum, Abnormal cerebral white ... ORPHA:485350
Bresek Syndrome
Aganglionic megacolon, Microcephaly, Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Sudden episodic apnea, Respiratory distress, Dysphagia, Respiratory insufficiency due to muscle w... OMIM:605809
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Microphthalmia, Retinal coloboma OMIM:601794
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia OMIM:615703
Japanese Encephalitis
Pill-rolling tremor, Dystonia, Abnormality of the internal capsule, Abnormality of extrapyramidal... ORPHA:79139
Spinal Muscular Atrophy, Type Iv
Tongue fasciculations, Hand tremor, Degeneration of anterior horn cells OMIM:271150
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Cerebral atrophy, Cerebral white matter hypoplasia, Seizure, Infantile muscular hypotonia, Stereo... ORPHA:500545
Spinocerebellar Ataxia 17
Dystonia, Apraxia, Gait ataxia, Chorea, Limb ataxia, Ataxia, Bradykinesia, Seizure, Cerebellar at... OMIM:607136
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Spastic paraparesis, Cerebral atrophy, Bradykinesia, Iron accumulation in subst... ORPHA:329284
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Cerebral calcification, Decreased response to growth hormone stimuation test OMIM:225755
Fraxe Intellectual Disability
Clumsiness, Prominent ear helix, Recurrent hand flapping, Hyperactivity, Stereotypical body rocking ORPHA:100973
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... ORPHA:231720
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of...