Deafness, Autosomal Recessive 109 |
|
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment |
OMIM:618013 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft |
OMIM:609227 |
Orofacial Cleft 11 |
|
Cleft palate, Cleft lip |
OMIM:600625 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma |
OMIM:616428 |
Microphthalmia, Isolated 8 |
|
Anophthalmia, Hypoplastic optic chiasm, Optic nerve hypoplasia, True anophthalmia, Microphthalmia... |
OMIM:615113 |
Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
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 |
|
Tracheoesophageal fistula, Esophageal atresia |
OMIM:189960 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Esophageal Cancer |
|
Esophageal carcinoma |
OMIM:133239 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration, Microphthalmia |
OMIM:251700 |
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature |
|
Intrauterine growth retardation, Short stature |
OMIM:135950 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia, Microcephaly |
OMIM:616335 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Chorioretinal coloboma |
OMIM:611638 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased circulating follicle stimulating hormone concentration, Hypothyroidism, Hypogonadism, A... |
OMIM:262600 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Decreased circu... |
ORPHA:95619 |
Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Deafness, Autosomal Dominant 80 |
|
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... |
OMIM:619274 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
Palatopharyngeal Incompetence |
|
Cleft palate, Velopharyngeal insufficiency |
OMIM:167500 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Functioning Gonadotropic Adenoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Increased circulating gonadotropin ... |
ORPHA:91348 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalm... |
ORPHA:137902 |
Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
Cheilitis Glandularis |
|
Thick lower lip vermilion, Abnormal salivary gland morphology |
ORPHA:1221 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Esophageal food impaction, Gastroesophageal reflux, Vomiting, Eosinophilic infiltration of the es... |
ORPHA:411696 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to... |
OMIM:300888 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... |
OMIM:616950 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... |
OMIM:600791 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
Nanophthalmos 4 |
|
Optic disc drusen, Microphthalmia |
OMIM:615972 |
Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Arrhinencephaly, Optic nerve hypoplasia, Microphthalmia, Agenesis of corpu... |
OMIM:218670 |
Thyroid Hormone Metabolism, Abnormal, 1 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Increased circula... |
OMIM:609698 |
Dystonia 30 |
|
Seizure, Writer's cramp, Torticollis, Diffuse cerebral atrophy, Leg dystonia, Oromandibular dysto... |
OMIM:619291 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... |
OMIM:228300 |
Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... |
OMIM:214450 |
Facial Clefting, Oblique, 1 |
|
Cleft palate, Cleft upper lip, Microphthalmia |
OMIM:600251 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Squamous Cell Carcinoma Of The Esophagus |
|
Cough, Esophageal carcinoma |
ORPHA:99977 |
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 |
Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
Non-Functioning Pituitary Adenoma |
|
Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido, Increased ci... |
ORPHA:91349 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
Anaplastic Thyroid Carcinoma |
|
Laryngotracheal stenosis, Respiratory distress, Tracheoesophageal fistula, Upper airway obstructi... |
ORPHA:142 |
Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
Van Der Woude Syndrome |
|
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Vomiting, Pancolitis, Ileitis, Abnormal intestine morphology, Gastritis, Chronic... |
OMIM:619079 |
Laryngotracheoesophageal Cleft Type 4 |
|
Respiratory insufficiency, Intestinal atresia, Tracheal stenosis, Tracheoesophageal fistula |
ORPHA:93941 |
Gastroschisis |
|
Intestinal atresia |
ORPHA:2368 |
Congenital Velopharyngeal Incompetence |
|
Abnormal palate morphology, Velopharyngeal insufficiency |
ORPHA:2291 |
Tietz Syndrome |
|
Hypopigmentation of the skin, Abnormality of skin pigmentation, White eyebrow, Hypopigmentation o... |
ORPHA:42665 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:616030 |
Carcinoma Of Esophagus |
|
Gastroesophageal reflux, Esophageal neoplasm, Abnormal intestine morphology, Cough, Dysphagia, Ba... |
ORPHA:70482 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Optic nerve hypoplasia |
ORPHA:1068 |
Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
Kimura Disease |
|
Abnormal salivary gland morphology |
ORPHA:482 |
Deafness, Autosomal Dominant 77 |
|
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Pierre Robin Syndrome And Oligodactyly |
|
Cleft palate, Pierre-Robin sequence |
OMIM:172880 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... |
ORPHA:399805 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormality of thalamus morphology, Abnormal caudate nucleus morphology, Abnormal globus pallidus... |
ORPHA:397725 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Optic nerve hypoplasia, Hypoplasia of the pon... |
OMIM:615181 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... |
OMIM:614837 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... |
ORPHA:529970 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614897 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic nerve aplasia, Optic nerve ... |
OMIM:165550 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr... |
ORPHA:52901 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Decreased circulating luteinizing hormone level, Micropenis, Crypt... |
OMIM:202150 |
Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... |
OMIM:611040 |
Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95513 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Bifid Uvula |
|
Submucous cleft soft palate, Bifid uvula, Cleft lip |
ORPHA:99771 |
Adenohypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95512 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal fold, Cerebellar hypoplasia, Retinal dystrophy, Abnormality of retinal pigmentation, Micr... |
OMIM:251270 |
Delayed Puberty, Self-Limited |
|
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... |
OMIM:619613 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
Retinitis Pigmentosa 42 |
|
Cystoid macular edema, Rod-cone dystrophy, Peripapillary atrophy, Perifoveal ring of hyperautoflu... |
OMIM:612943 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Leber optic atrophy, Optic atrophy |
OMIM:308905 |
Congenital Primary Aphakia |
|
Retinal dysplasia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, ... |
ORPHA:83461 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Respiratory distress, Upper airway obstruction, Dyspnea, Microglossia, Clef... |
ORPHA:141152 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Cleft palate, Tooth agenesis, Non-midline cleft lip |
ORPHA:1074 |
Anencephaly 2 |
|
Median cleft palate, Anophthalmia, Cleft maxillary alveolar ridge, Median cleft lip |
OMIM:619452 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Enlarged vestibular aqueduct, Congenital posterior o... |
ORPHA:79414 |
Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
Congenital Laryngomalacia |
|
Cleft palate, Non-midline cleft lip |
ORPHA:2373 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Median cleft palate |
ORPHA:2432 |
Pierre Robin Syndrome |
|
Cleft palate, Pierre-Robin sequence, Glossoptosis |
OMIM:261800 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Decreased fertility, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothal... |
ORPHA:2235 |
Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... |
OMIM:617319 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Heterochromia iridis, Premature graying of hair |
OMIM:600193 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Gangliocytoma |
|
Hyperhidrosis, Adrenocorticotropic hormone excess, Impotence, Decreased female libido, Pituitary ... |
ORPHA:251937 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft palate, Cleft upper lip, Microphthalmia |
OMIM:120433 |
Alexander Disease Type I |
|
Spasticity, Seizure, Palatal tremor, Hydrocephalus, Generalized hypotonia, Rosenthal fibers, Abno... |
ORPHA:363717 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Adenocarcinoma Of The Esophagus |
|
Gastroesophageal reflux, Barrett esophagus, Cough, Esophageal carcinoma |
ORPHA:99976 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
Ane Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re... |
ORPHA:157954 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Retinal degeneration, Cystoid macular degeneration, Macular atrophy, Microphthalmia |
OMIM:267760 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:126070 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Decreased circulating free T3, Increased circulating T4 concentration, Elevated circulating thyro... |
ORPHA:171706 |
Delpire-Mcneill Syndrome |
|
Tracheoesophageal fistula, Dysphagia |
OMIM:619083 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia |
OMIM:619582 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Seizure, Rigidity, Limb dystonia, Thalamic calcification, Basal ganglia calcification, Hypertonia... |
OMIM:618824 |
Gombo Syndrome |
|
Microphthalmia, Microcephaly |
OMIM:233270 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Leukoencephalopathy, Abnormality of thalamus morphology, Abnormal motor neuron morphology, Tortic... |
OMIM:613724 |
Tubulinopathy-Associated Dysgyria |
|
Abnormality of thalamus morphology, Ventriculomegaly, Agyria, Dysgyria, Abnormal corpus callosum ... |
ORPHA:467166 |
Emphysema, Congenital Lobar |
|
Respiratory distress, Bronchial cartilage hypoplasia |
OMIM:130710 |
Craniotelencephalic Dysplasia |
|
Optic atrophy, Cerebellar hypoplasia, Septo-optic dysplasia, Arrhinencephaly, Microphthalmia, Mic... |
ORPHA:1528 |
Methimazole Embryofetopathy |
|
Tracheoesophageal fistula, Esophageal atresia |
ORPHA:1923 |
Variant Abeta2M Amyloidosis |
|
Gastrointestinal infarctions, Abnormality of the tongue, Abnormal salivary gland morphology, Inte... |
ORPHA:314652 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Cerebellar hypoplasia, Optic nerve hypoplasia |
ORPHA:65288 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia, Microphthalmia, Cerebellar hypoplasia |
OMIM:614830 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:619177 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Vomiting, Diarrhea, ... |
ORPHA:2494 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301033 |
Isolated Pierre Robin Syndrome |
|
Cleft palate, Glossoptosis |
ORPHA:718 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Alpha-1-Antitrypsin Deficiency |
|
Bronchiectasis, Hepatocellular carcinoma, Chronic pulmonary obstruction, Cough, Dyspnea, Gastric ... |
OMIM:613490 |
Septooptic Dysplasia |
|
Optic disc hypoplasia, Agenesis of corpus callosum, Optic nerve hypoplasia |
OMIM:182230 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Congenital Tracheomalacia |
|
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pneumonia, Wheezing, E... |
ORPHA:95430 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Congenital pyloric atresia, Intractable diarrhea, Death in infancy, Esophageal atresia |
OMIM:226730 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Hypoplasia of the brainstem, Agenesis of corpus callosum, Optic nerve hypoplasia |
ORPHA:250972 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Neonatal death, Esophageal stenosis |
OMIM:619817 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Dystonia, Abnormal basal ganglia morphology, Spastic tetraplegia, Decreased thalamic volume |
OMIM:618646 |
Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Perching Syndrome |
|
Scoliosis, High palate, Respiratory distress, Dysphagia |
OMIM:617055 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Non-Acquired Panhypopituitarism |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absence of ... |
ORPHA:90695 |
Microphthalmia, Isolated 6 |
|
Retinal fold, Microphthalmia |
OMIM:613517 |
Isolated Growth Hormone Deficiency, Type Iv |
|
Decreased serum insulin-like growth factor 1, Anterior pituitary hypoplasia, Decreased response t... |
OMIM:618157 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip, Microphthalmia |
OMIM:614402 |
Isolated Growth Hormone Deficiency, Type Ib |
|
Decreased response to growth hormone stimulation test |
OMIM:612781 |
Non-Acquired Isolated Growth Hormone Deficiency |
|
Anterior hypopituitarism |
ORPHA:631 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... |
OMIM:613986 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... |
OMIM:619755 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ... |
OMIM:305390 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Cleft palate, Pierre-Robin sequence, Glossoptosis |
OMIM:311895 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Autosomal Dominant Focal Dystonia, Dyt25 Type |
|
Lingual dystonia, Limb dystonia, Torticollis, Focal dystonia, Axial dystonia, Craniofacial dyston... |
ORPHA:329466 |
Martinez-Frias Syndrome |
|
Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Intestinal hypoplasia, Duoden... |
OMIM:601346 |
Foveal Hypoplasia 2 |
|
Foveal hyperpigmentation, Hypoplasia of the fovea, Optic nerve misrouting, Microphthalmia |
OMIM:609218 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... |
ORPHA:99832 |
Cleft Palate, Isolated |
|
Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
Waardenburg Syndrome, Type 2E |
|
Sensorineural hearing impairment, Cafe-au-lait spot, Premature graying of hair, Ocular albinism, ... |
OMIM:611584 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Hypothyroidism, Decreased circulating free T4 concentration, Anterior pituitary hypoplasia, Reduc... |
OMIM:613038 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate |
OMIM:119300 |
Leber Congenital Amaurosis 13 |
|
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... |
OMIM:612712 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Hypoplasia of the brainstem, Primary microcephaly, Retinal dysplasia, Partial agenesis of the cor... |
OMIM:615771 |
2q33.1 deletion syndrome |
|
Cleft palate, High palate |
DECIPHER:51 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... |
OMIM:614839 |
Brooke-Spiegler Syndrome |
|
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... |
ORPHA:79493 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
Cleft Palate-Lateral Synechia Syndrome |
|
Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth |
ORPHA:2016 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Sensorineural hearing impairment, Premature gray... |
OMIM:619947 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Tracheoesophageal fistula, Neonatal death, Esophageal atresia |
OMIM:619859 |
Dystonia 33 |
|
Spasticity, Limb dystonia, Neonatal seizure, Axial dystonia, Axial hypotonia, Dystonia |
OMIM:619687 |
Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Tracheoesophageal fistula, Neonatal death, Anal atresia, Esophageal atresia |
OMIM:314390 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism |
OMIM:300123 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Seizure, Ventriculomegaly, Compulsive behaviors, Abnormal cerebral white matter morphology, Mild ... |
ORPHA:500166 |
Pituitary Apoplexy |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:95613 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency |
OMIM:617732 |
Pontocerebellar Hypoplasia, Type 15 |
|
Myoclonic seizure, Spastic tetraplegia, Simplified gyral pattern, Focal-onset seizure, Hydrocepha... |
OMIM:619302 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth |
OMIM:216300 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu... |
OMIM:618086 |
Isochromosomy Yp |
|
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... |
ORPHA:98797 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia |
OMIM:615272 |
Immunodeficiency 57 With Autoinflammation |
|
Diarrhea, Bronchiectasis, Perianal abscess, Skin rash, Inflammation of the large intestine, Gastr... |
OMIM:618108 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Panhypopituitarism, X-Linked |
|
Panhypopituitarism |
OMIM:312000 |
Pituitary Dwarfism With Large Sella Turcica |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:262710 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... |
OMIM:619350 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Myoclonic seizure, Spasticity, Seizure, Ventriculomegaly, Stereotypical hand wringing, Myoclonus,... |
OMIM:614254 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Schisis Association |
|
Tracheoesophageal fistula, Cleft palate, Anal atresia |
ORPHA:63862 |
Chudley-Mccullough Syndrome |
|
Seizure, Ventriculomegaly, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of ... |
OMIM:604213 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Leukoencephalopathy, Cerebral cortical atrophy, Seizure, Myoclonus, T2 hypointense thalamus, Basa... |
OMIM:618193 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Attenuation of retinal blood vessels, Optic atrophy |
OMIM:165510 |
Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation, Focal-onset seizure, Eyelid myoclonus, Atonic seizure, Spasticity, ... |
ORPHA:208447 |
Coffin-Siris Syndrome 11 |
|
Bifid uvula, High palate, Cleft soft palate, Esophageal atresia |
OMIM:618779 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Myoclonic seizure, Cerebral cortical atrophy, Simplified gyral pattern, Focal-onset seizure, Decr... |
OMIM:619072 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Rod-cone dystrophy, Psychomotor deterioration, Optic atrophy |
OMIM:609055 |
Mmep Syndrome |
|
Orofacial cleft, Microphthalmia, Median cleft lip |
ORPHA:3434 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Cleft palate, Microphthalmia |
OMIM:616570 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment, Ataxia |
ORPHA:3233 |
Congenital Tracheal Stenosis |
|
Morphological abnormality of the gastrointestinal tract, Abnormal tracheobronchial morphology, Ab... |
ORPHA:141127 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Seizure, Hydrocephalus, Hypotonia, Fusion of the left and right thalami, Agenesis of corpus callo... |
OMIM:617542 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Optic atrophy, Cerebellar hypoplasia, Macular atrophy, Hypoplasia of the pons, Parti... |
OMIM:616171 |
Sheehan Syndrome |
|
Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Impotence, ... |
ORPHA:91355 |
Non-Syndromic Posterior Hypospadias |
|
Cleft palate, Anal atresia, Esophageal atresia |
ORPHA:95706 |
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Seizure, Generalized hypotonia, Secondary microcephaly, Microcephaly, Diffuse white matter abnorm... |
OMIM:616763 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Optic disc pallor, Optic atrophy |
OMIM:165300 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment, Ataxia |
OMIM:271250 |
Isochromosomy Yq |
|
Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal... |
ORPHA:98798 |
Cap Polyposis |
|
Atrophic gastritis, Colorectal polyposis, Diarrhea, Constipation, Hematochezia |
ORPHA:160148 |
Lissencephaly 4 |
|
Seizure, Primary microcephaly, Simplified gyral pattern, Lissencephaly, Hypertonia, Agenesis of c... |
OMIM:614019 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia,... |
OMIM:300614 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Decreased fertility, Absence of secondary sex characteristics, Increased circulating gonadotropin... |
ORPHA:2410 |
Colonic Atresia |
|
Colonic atresia |
OMIM:303650 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Hypoplasia of the corpus callosum, Microcephaly, Optic nerve hypoplasia |
OMIM:618890 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Microphthalmia, Widely-spaced maxillary central incisors, Cleft palate, Orofacia... |
OMIM:601349 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
Lethal Osteosclerotic Bone Dysplasia |
|
Delayed cranial suture closure, Gingival fibromatosis, Respiratory distress, Median cleft lip and... |
ORPHA:1832 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
X-Linked Intellectual Disability, Najm Type |
|
Cerebral cortical atrophy, Optic atrophy, Cerebellar hypoplasia, Optic nerve hypoplasia, Microcep... |
ORPHA:163937 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia |
OMIM:614526 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Retrocollis, Spasticity, Generalized dystonia, Spasticity of facial muscles, Opisthotonus, Spasti... |
OMIM:205100 |
Gastroesophageal Reflux |
|
Esophagitis, Gastroesophageal reflux, Esophageal neoplasm, Barrett esophagus |
OMIM:109350 |
Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
Primary Dystonia, Dyt17 Type |
|
Generalized dystonia, Torticollis, Cerebral cortical atrophy, Craniofacial dystonia |
ORPHA:370103 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Muir-Torre Syndrome |
|
Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the liver, Colon cancer, Salivary gland ne... |
ORPHA:587 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormality of thalamus morphology, Lateral ventricle dilatation, Primary microcephaly, Focal-ons... |
ORPHA:300570 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Cleft palate, Ankyloglossia, Bifid uvula |
OMIM:303400 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Abnormal repetitive mannerisms, Torsion dystonia, Fo... |
ORPHA:98807 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory insufficiency, Gastroesophageal reflux, Camptodactyly of finger, High palate, Tongue ... |
OMIM:614399 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microcephaly, Microphthalmia, Agenesis of corpus callosum, Optic nerve hypoplasia |
OMIM:614833 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... |
OMIM:225200 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Iris cyst, Hypoplasia of the fovea, Optic atrophy |
OMIM:620086 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Recurrent skin infe... |
OMIM:616576 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Respiratory distress, Stillbirth, Death in adolescence, Dysphagi... |
OMIM:619751 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... |
OMIM:304400 |
Barrett Esophagus |
|
Gastroesophageal reflux, Barrett esophagus, Esophageal carcinoma, Esophageal ulceration |
OMIM:614266 |
Ermine Phenotype |
|
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo |
OMIM:227010 |
Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Anorectal anomaly, Furrowed tongue |
ORPHA:1839 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Developmental And Epileptic Encephalopathy 53 |
|
Myoclonic seizure, Seizure, Spastic tetraplegia, Thin corpus callosum, Tonic seizure, Bilateral t... |
OMIM:617389 |
Premature Ovarian Failure 1 |
|
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:311360 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Premature Ovarian Failure 17 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm... |
OMIM:619146 |
17Q12 Microduplication Syndrome |
|
Tracheoesophageal fistula, Cleft palate |
ORPHA:261272 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:607921 |
Rhombencephalosynapsis |
|
Tracheoesophageal fistula, Aganglionic megacolon, Anal atresia, Esophageal atresia |
ORPHA:59315 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
5Q14.3 Microdeletion Syndrome |
|
Hypoplasia of the corpus callosum, Frontal cortical atrophy, Agenesis of cerebellar vermis, Optic... |
ORPHA:228384 |
Portal Hypertension, Noncirrhotic, 1 |
|
Esophageal varix |
OMIM:617068 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Optic Atrophy 2 |
|
Optic atrophy |
OMIM:311050 |
Neuroferritinopathy |
|
Iron accumulation in substantia nigra, Blepharospasm, Abnormal putamen morphology, Abnormal cauda... |
ORPHA:157846 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Narrow mouth, High palate, Microphthalmia |
ORPHA:2528 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Spasticity, Thin corpus callosum, Abnormal cerebral white matter morphology, Abnormal lower motor... |
OMIM:602099 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy |
OMIM:165199 |
Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Iris hypopigmentation, Ataxia, Vestibular hypofunction, Abnorma... |
ORPHA:231183 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Diarrhea, Shawl scrotum, Hypospadias, Gastritis, Glandular hypospadias |
ORPHA:2575 |
X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
Auriculocondylar Syndrome 2 |
|
Dental malocclusion, Mandibular condyle hypoplasia, Dental crowding, Respiratory distress, Apnea,... |
OMIM:614669 |
Cleft Lip With Or Without Cleft Palate |
|
Non-midline cleft lip, Median cleft lip and palate, Median cleft lip, Non-midline cleft palate, S... |
ORPHA:1991 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Retinal dystrophy, Optic atrophy, Mental deterioration |
OMIM:614706 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233300 |
Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
Fanconi Anemia, Complementation Group B |
|
Tracheoesophageal fistula, Duodenal atresia, Death in infancy, Esophageal atresia |
OMIM:300514 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
High anterior hairline, Thin eyebrow, Recurrent hand flapping, Low-set ears, Posteriorly rotated ... |
OMIM:618147 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Myoclonic seizure, Spasticity, Enlarged sylvian cistern, Seizure, Spastic tetraplegia, Focal-onse... |
OMIM:619616 |
Premature Ovarian Failure 10 |
|
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... |
OMIM:612885 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Chromosome 19P13.13 Deletion Syndrome |
|
Microcephaly, Optic atrophy, Optic nerve hypoplasia |
OMIM:613638 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 |
|
Spastic tetraplegia, Generalized myoclonic seizure, Secondary microcephaly, Progressive microceph... |
OMIM:251280 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
Dystonia 32 |
|
Brain atrophy, Limb dystonia, Torticollis, Laryngeal dystonia, T2 hypointense basal ganglia |
OMIM:619637 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anteriorly placed anus, Anophthalmia, Anal stenosis |
OMIM:248450 |
46,Xy Sex Reversal 11 |
|
Primary amenorrhea, Urogenital sinus anomaly, Abnormal internal genitalia, Aplasia of the uterus,... |
OMIM:273250 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Abnormal head movements, Ataxia, Vertigo |
ORPHA:71518 |
Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Iris hypopigmentation, Ataxia, Vestibular hypofunction, Abnorma... |
ORPHA:231169 |
Dystonia 6, Torsion |
|
Lingual dystonia, Writer's cramp, Limb dystonia, Myoclonus, Torticollis, Torsion dystonia, Oroman... |
OMIM:602629 |
Diabetes Insipidus, Neurohypophyseal |
|
Central diabetes insipidus, Decreased circulating osteocalcin level |
OMIM:125700 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
Parc Syndrome |
|
Cleft palate |
OMIM:600331 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Tracheoesophageal fistula, Esophageal atresia |
ORPHA:77298 |
Joubert Syndrome 26 |
|
Central hypothyroidism, Micropenis, Decreased response to growth hormone stimulation test, Panhyp... |
OMIM:616784 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Hypogona... |
OMIM:240950 |
Optic Atrophy 5 |
|
Optic atrophy |
OMIM:610708 |
Developmental And Epileptic Encephalopathy 7 |
|
Seizure, Spastic tetraparesis, Hypotonia, Hypoplasia of the corpus callosum, Dystonia |
OMIM:613720 |
Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Respiratory distress, Abnormal tracheal morphology, Recurrent pneumoni... |
ORPHA:60032 |
Spermatogenic Failure 57 |
|
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Non-obstructive a... |
OMIM:619528 |
Hemidystonia-Hemiatrophy Syndrome |
|
Abnormal periventricular white matter morphology, Seizure, Limb dystonia, Abnormal basal ganglia ... |
ORPHA:306741 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absence of ... |
ORPHA:95494 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Optic nerve hypoplasia, Hypoplasia of the pons, Microcephaly, Agenesis... |
OMIM:618736 |
Spermatogenic Failure 50 |
|
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest |
OMIM:619145 |
Congenital Contractural Arachnodactyly |
|
Tracheoesophageal fistula, Intestinal malrotation, High palate, Duodenal atresia |
ORPHA:115 |
Cocaine Embryofetopathy |
|
Intestinal atresia |
ORPHA:1911 |
Developmental And Epileptic Encephalopathy 99 |
|
Perisylvian polymicrogyria, Frontotemporal cerebral atrophy, Ventriculomegaly, Focal-onset seizur... |
OMIM:619606 |
Septo-Optic Dysplasia Spectrum |
|
Tracheoesophageal fistula, Cleft palate, Constipation, Esophageal atresia |
ORPHA:3157 |
Birdshot Chorioretinopathy |
|
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Female hypogonadism, Hypothyroidism, Atrophic gastritis, Chronic oral candidiasis, Diarrhea, Irid... |
OMIM:240300 |
Esophageal Atresia |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... |
ORPHA:1199 |
New-Onset Refractory Status Epilepticus |
|
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Global brain atrophy, Status ... |
ORPHA:363558 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Microphthalmia, Chorioretinal coloboma, Remnants of the hyaloid vascular system |
ORPHA:231736 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Spasticity, Hippocampal atrophy, Amyotrophic lateral sclerosis, Caudate atrophy |
OMIM:617892 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Leukoencephalopathy, Spasticity, Seizure, Cerebral calcification, Tremor, Dystonia |
OMIM:614561 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Tracheoesophageal fistula, Duodenal atresia, Submucous cleft hard palate, Esophageal atresia |
OMIM:619227 |
Autosomal Recessive Spastic Paraplegia Type 56 |
|
Spastic gait, Abnormal globus pallidus morphology, Spastic paraplegia, Abnormal cerebral white ma... |
ORPHA:320411 |
Infantile Myofibromatosis |
|
Tracheoesophageal fistula, Abnormal intestine morphology, Intestinal obstruction |
ORPHA:2591 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Increased circulating prolactin concentration, Precocious puberty, Decreased response to growth h... |
ORPHA:91354 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Brain atrophy, Thalamic calcification, Dystonia, Basal ganglia calcification |
OMIM:618317 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Optic nerve hypoplasia |
OMIM:614306 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Microphthalmia, Cerebral atrophy, Microcephaly, Agenesis of corpus callosum |
OMIM:274270 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Cleft palate, Anophthalmia |
OMIM:164180 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Cryptorchidism... |
OMIM:619761 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Congenital Alveolar Capillary Dysplasia |
|
Pulmonary arterial hypertension, Volvulus, Aganglionic megacolon, Respiratory distress, Duodenal ... |
ORPHA:210122 |
Coloboma, Ocular, Autosomal Dominant |
|
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Microphthalm... |
OMIM:120200 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... |
OMIM:254210 |
Premature Ovarian Failure 16 |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... |
OMIM:618723 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... |
ORPHA:226307 |
Pituitary Adenoma 1, Multiple Types |
|
Irregular menstruation, Increased circulating prolactin concentration, Pituitary adenoma, Prolact... |
OMIM:102200 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Female infertility, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Spo... |
ORPHA:1876 |
Retinitis Pigmentosa 71 |
|
Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h... |
OMIM:616394 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
Gastritis, Familial Giant Hypertrophic |
|
Giant hypertrophic gastritis |
OMIM:137280 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Projectile vom... |
OMIM:615237 |
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome |
|
Writer's cramp, Focal hemifacial clonic seizure, Seizure, Paroxysmal dystonia |
ORPHA:163727 |
Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased serum insulin-like growth factor 1, Anterior pituitary hypoplasia, Decreased response t... |
OMIM:173100 |
Endocardial Fibroelastosis |
|
Anterior hypopituitarism, Hypoplasia of penis, Cryptorchidism |
ORPHA:2022 |
Norrie Disease |
|
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Dementia, Buphthalmos, Shallow a... |
OMIM:310600 |
Pontocerebellar Hypoplasia, Type 14 |
|
Myoclonic seizure, Spastic tetraplegia, Simplified gyral pattern, Focal-onset seizure, Bilateral ... |
OMIM:619301 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of the lateral corticospinal tracts, Spasticity, Amyotrophic lateral sclerosis, Dege... |
OMIM:105400 |
Chronic Granulomatous Disease |
|
Malabsorption, Pyloric stenosis, Chronic pulmonary obstruction, Tracheoesophageal fistula, Sinusitis |
ORPHA:379 |
Feingold Syndrome 2 |
|
Intestinal atresia |
OMIM:614326 |
Bencze Syndrome |
|
Submucous cleft hard palate, Open bite |
ORPHA:1241 |
Pontocerebellar Hypoplasia, Type 1A |
|
Basal ganglia gliosis, Neuronal loss in basal ganglia, Cerebral cortical atrophy, Lateral ventric... |
OMIM:607596 |
Pituitary Carcinoma |
|
Pituitary thyrotropic cell adenoma, Enlarged pituitary gland, Diabetes insipidus, Pituitary corti... |
ORPHA:300385 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoplasia of the brainstem, Optic atrophy, Cerebellar hypoplasia, Agenesis of corpus callosum, O... |
ORPHA:370959 |
Dystonia 23 |
|
Cerebral cortical atrophy, Writer's cramp, Limb dystonia, Myoclonus, Torticollis, Head tremor, Ax... |
OMIM:614860 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui... |
ORPHA:91351 |
Dystonia 25 |
|
Laryngeal dystonia, Limb dystonia, Torticollis, Lingual dystonia |
OMIM:615073 |
Central Retinal Vein Occlusion |
|
Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg... |
ORPHA:411527 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Optic atrophy |
OMIM:617087 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia |
ORPHA:137634 |
Pendred Syndrome |
|
Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Ataxia... |
ORPHA:705 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Rod-cone dystrophy, Microphthalmia, Retinal coloboma |
OMIM:601794 |
Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility |
ORPHA:3000 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Cleft palate, High palate, Microphthalmia, Tooth agenesis |
ORPHA:1135 |
Spermatogenic Failure 8 |
|
Oligospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Rigidity, Myoclonus, Focal T2 hyperintense thalamic lesion, Cerebral atrophy |
OMIM:619057 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Woolly Hair |
|
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Seizure, Ventriculomegaly, Focal-onset seizure, Focal motor status epilepticus, Microcephaly, Axi... |
OMIM:619150 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Cleft palate, Respiratory distress, Esophageal atresia |
OMIM:610536 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia, Neonatal death |
OMIM:612138 |
Oliver-Mcfarlane Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplasia of penis, Delayed puberty, Cryp... |
OMIM:275400 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Cerebellar hypoplasia, Arrhinencephaly, Optic nerve hypoplasia, Microcephaly, Microphthalmia, Hyp... |
OMIM:617914 |
Hidrotic Ectodermal Dysplasia |
|
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... |
ORPHA:189 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Cleft palate, Bifid uvula |
OMIM:258320 |
Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum |
|
Spastic paraplegia, Abnormal cerebral white matter morphology, Basal ganglia calcification, Hypop... |
OMIM:615030 |
Microphthalmia With Brain And Digit Anomalies |
|
High palate, Anophthalmia, Retinal dystrophy, Microphthalmia, Chorioretinal coloboma |
ORPHA:139471 |
Sirenomelia |
|
Tracheoesophageal fistula, Anal atresia |
ORPHA:3169 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Iron accumulation in substantia nigra, Cerebellar vermis atrophy, Seizure, Hypotonia, Lower limb ... |
OMIM:619389 |
Primary Dystonia, Dyt27 Type |
|
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... |
ORPHA:464440 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebral cortical atrophy, Ventriculomegaly, Recurrent hand flapping, Hand tremor, Progressive mi... |
OMIM:617862 |
Cerebrooculonasal Syndrome |
|
High palate, Anophthalmia, Long philtrum, Widely spaced teeth, Microdontia, Solitary median maxil... |
ORPHA:66625 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Myoclonic seizure, Seizure, Stereotypical hand wringing, Myoclonus, Choreoathetosis, Tonic seizur... |
OMIM:618497 |
Robin Sequence-Oligodactyly Syndrome |
|
Cleft palate, Glossoptosis, Abnormality of the dentition |
ORPHA:3104 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism |
OMIM:603373 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Cleft palate, Cleft upper lip, Anophthalmia |
OMIM:613885 |
Developmental And Epileptic Encephalopathy 57 |
|
Reduced cerebral white matter volume, Seizure, Thin corpus callosum, Generalized myoclonic seizur... |
OMIM:617771 |
Feingold Syndrome |
|
Duodenal atresia, Esophageal atresia |
ORPHA:1305 |
Braddock-Carey Syndrome 2 |
|
Cleft palate, Pierre-Robin sequence, Microphthalmia, Wide mouth |
OMIM:619981 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... |
ORPHA:71526 |
Congenital Varicella Syndrome |
|
Cerebral cortical atrophy, Microphthalmia, Microcephaly |
ORPHA:291 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Chorioretinal coloboma, Microphthalmia, Optic atrophy |
ORPHA:1473 |
Leber Congenital Amaurosis 19 |
|
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:618513 |
Orthostatic Hypotension 1 |
|
Retrograde ejaculation, Reduced circulating prolactin concentration |
OMIM:223360 |
Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Sensor... |
ORPHA:52368 |
Developmental And Epileptic Encephalopathy 67 |
|
Generalized myoclonic seizure, Recurrent hand flapping, Focal hemiclonic seizure, Tonic seizure, ... |
OMIM:618141 |
Axial Mesodermal Dysplasia Spectrum |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... |
ORPHA:1834 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Seizure, Spastic tetraplegia, Status epilepticus, Small basal ganglia, Dystonia, Infantile spasms... |
ORPHA:263410 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Microphthalmia, Retinal coloboma |
ORPHA:363741 |
Acces Syndrome |
|
Tracheoesophageal fistula |
OMIM:619959 |
47,Xyy Syndrome |
|
Macroorchidism, Increased serum testosterone level, Azoospermia, Increased circulating gonadotrop... |
ORPHA:8 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Pyloric stenosis, Abnormal intestine morphology |
ORPHA:2978 |
Lissencephaly Due To Tuba1A Mutation |
|
Hypoplasia of the brainstem, Aganglionic megacolon, Optic nerve hypoplasia, Partial agenesis of t... |
ORPHA:171680 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... |
OMIM:605809 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Dilated third ventricle, Seizure, Lateral ventricle dilatation, Resting tremor, Diffu... |
ORPHA:363654 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft palate, Bifid uvula, Cleft soft palate, Unilateral cleft lip |
ORPHA:2736 |
Bresek Syndrome |
|
Aganglionic megacolon, Microcephaly, Microphthalmia, Optic nerve hypoplasia |
ORPHA:85284 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Seizure, Hyperintensity of cerebral white matter on MRI, Spastic tetraplegia, Generalized myoclon... |
ORPHA:1947 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Cleft palate, Bifid uvula, Submucous cleft hard palate |
ORPHA:2521 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Diarrhea, Bronchiectasis, Arthritis, Eczema, Lymphocytic inf... |
OMIM:616100 |
Congenital Diaphragmatic Hernia |
|
Intestinal malrotation, Hypoxemia, Respiratory distress |
ORPHA:2140 |
Bronchogenic Cyst |
|
Abnormal stomach morphology, Dyspnea, Abnormal esophagus morphology, Cough, Dysphagia, Pneumonia |
ORPHA:2357 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Leukoencephalopathy, Spasticity, Lateral ventricle dilatation, Periventricular leukomalacia, Hand... |
OMIM:615889 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis, Lower limb spasticity |
OMIM:614373 |
Leukodystrophy, Hypomyelinating, 14 |
|
Spasticity, Seizure, Generalized hypotonia, Microcephaly, Cerebral atrophy, Cerebellar atrophy, D... |
OMIM:617899 |
Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress, Death in infancy |
OMIM:254120 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Dementia, Optic atrophy |
OMIM:182830 |
Epilepsy, Nocturnal Frontal Lobe, 4 |
|
Nocturnal seizures, Dystonia |
OMIM:610353 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... |
OMIM:601631 |
Developmental And Epileptic Encephalopathy 54 |
|
Seizure, Ventriculomegaly, Myoclonus, Generalized hypotonia, Status epilepticus without prominent... |
OMIM:617391 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul... |
OMIM:618096 |
Microphthalmia-Brain Atrophy Syndrome |
|
Generalized-onset seizure, Cerebellar vermis atrophy, Spasticity, Lateral ventricle dilatation, G... |
ORPHA:77299 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating follicle stimulating hormone concentration, Incre... |
ORPHA:2495 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue, Abnormality of retinal pigmentation |
ORPHA:2743 |
Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated cir... |
OMIM:619834 |
Retinitis Pigmentosa 57 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613582 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal dystrophy, Macular atrophy, Buphthalmos, Microphthalmia, Chorioretinal coloboma, Retinal ... |
OMIM:212550 |
Cach Syndrome |
|
Spasticity, Cerebellar vermis atrophy, Seizure, Lateral ventricle dilatation, Spastic diplegia, T... |
ORPHA:135 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Bifid uvula |
OMIM:256200 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Chorioretinal coloboma, Microcephaly |
OMIM:300915 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Leukoencephalopathy, Spasticity, Seizure, Ventriculomegaly, Cerebral calcification, Focal white m... |
OMIM:612951 |
Developmental And Epileptic Encephalopathy 9 |
|
Ventriculomegaly, Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal h... |
OMIM:300088 |
Hypotrichosis 8 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... |
OMIM:278150 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|