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