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Gene: Sox2 MGI:98364

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Sox2em1(IMPC)Mbp HOM   Early adult 0.00
abnormal optic disk morphology Sox2em1(IMPC)Mbp HET Early adult 4.39×10-08
abnormal brain morphology Sox2em1(IMPC)Mbp HET Early adult 0.00
irregularly shaped pupil Sox2em1(IMPC)Mbp HET Early adult 1.09×10-06
embryonic growth retardation Sox2em1(IMPC)Mbp HET E9.5 0.00
enhanced contextual conditioning behavior Sox2em1(IMPC)Mbp HET Early adult 1.84×10-08
embryonic lethality prior to organogenesis Sox2em1(IMPC)Mbp HOM   E9.5 0.00
abnormal retina blood vessel morphology Sox2em1(IMPC)Mbp HET   Early adult 7.86×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

42 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Gross Morphology Embryo E9.5

Images

7 Images

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Human diseases caused by Sox2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 109
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