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Gene: Sox2 MGI:98364

Gene Summary

Name:

SRY (sex determining region Y)-box 2

Synonyms:

ysb, lcc, Sox-2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
embryonic growth retardation	Sox2^em1(IMPC)Mbp	HET	E9.5	0.00
enhanced contextual conditioning behavior	Sox2^em1(IMPC)Mbp	HET	Early adult	3.00×10^-08
abnormal retina blood vessel morphology	Sox2^em1(IMPC)Mbp	HET	Early adult	7.05×10^-05
preweaning lethality, complete penetrance	Sox2^em1(IMPC)Mbp	HOM	Early adult	0.00
embryonic lethality prior to organogenesis	Sox2^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal optic disk morphology	Sox2^em1(IMPC)Mbp	HET	Early adult	4.04×10^-08
abnormal brain morphology	Sox2^em1(IMPC)Mbp	HET	Early adult	0.00
irregularly shaped pupil	Sox2^em1(IMPC)Mbp	HET	Early adult	1.00×10^-06

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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.

Gross Morphology Embryo E9.5

Images

7 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

42 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.

Human diseases associated with Sox2 (4 diseases)
Human diseases predicted to be associated with Sox2 (3095 diseases)

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

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

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

Disease	Matching phenotypes	Source
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma	OMIM:616428
Syngnathia	Cleft palate	OMIM:119550
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob...	OMIM:615113
Spermatogenic Failure 14	Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo...	OMIM:615842
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Premature Ovarian Failure 12	Macular dystrophy, Microphthalmia	OMIM:616947
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Esophageal atresia, Tracheoesophageal fistula	OMIM:189960
Esophageal Cancer	Esophageal carcinoma	OMIM:133239
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration	OMIM:251700
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature	Intrauterine growth retardation, Short stature	OMIM:135950
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia, Microcephaly	OMIM:616335
Autism, Susceptibility To, X-Linked 3	EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be...	OMIM:300496
Autism, Susceptibility To, X-Linked 1	EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be...	OMIM:300425
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma	OMIM:611638
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Dystonia 30	Diffuse cerebral atrophy, Torticollis, Writer's cramp, Impulsivity, Aggressive behavior, Globus p...	OMIM:619291
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone...	OMIM:108420
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c...	ORPHA:95619
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S...	OMIM:616950
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma...	OMIM:262600
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility, Reduced circulating prolactin concentration	OMIM:264110
Autism, Susceptibility To, 8	EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be...	OMIM:607373
Autism	EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be...	OMIM:209850
Isolated Growth Hormone Deficiency, Type Ib	Micropenis, Reduced circulating growth hormone concentration, Decreased response to growth hormon...	OMIM:612781
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Inferior chorioretinal coloboma	OMIM:614497
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg...	ORPHA:411696
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Gastric Cancer	Stomach cancer	OMIM:613659
Craniotelencephalic Dysplasia	Cerebellar hypoplasia, Microphthalmia, Agenesis of corpus callosum, Optic nerve hypoplasia	OMIM:218670
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology	ORPHA:3225
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Hypothyroidism, Central, With Testicular Enlargement	Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t...	OMIM:300888
Uvula, Bifid	Bifid uvula	OMIM:192100
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Pituicytoma	Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr...	ORPHA:251623
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ...	ORPHA:399805
Facial Clefting, Oblique, 1	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:600251
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary...	OMIM:228300
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Microphthalmia, Syndromic 12	Anophthalmia, Intestinal malrotation, Cleft palate, Neonatal death, Microphthalmia	OMIM:615524
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Laryngotracheal stenosis, Tracheoesophageal fistula, Dysphagia, Up...	ORPHA:142
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Laryngotracheoesophageal Cleft Type 4	Tracheal stenosis, Tracheoesophageal fistula, Respiratory insufficiency, Intestinal atresia	ORPHA:93941
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin...	OMIM:619079
Gastroschisis	Intestinal atresia	ORPHA:2368
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm...	OMIM:202150
Congenital Velopharyngeal Incompetence	Velopharyngeal insufficiency, Abnormal palate morphology	ORPHA:2291
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen...	OMIM:616030
Tietz Syndrome	Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of th...	ORPHA:42665
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Cleft palate	OMIM:172880
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Kimura Disease	Abnormal salivary gland morphology	ORPHA:482
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Cough	ORPHA:99977
Aniridia-Intellectual Disability Syndrome	Aniridia, Optic nerve hypoplasia	ORPHA:1068
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ...	ORPHA:529970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, ...	OMIM:615181
Coasy Protein-Associated Neurodegeneration	Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Eye of the tiger anomal...	ORPHA:397725
Alexander Disease Type I	Cerebellar atrophy, Palatal tremor, Hydrocephalus, Abnormal thalamic MRI signal intensity, Hypoto...	ORPHA:363717
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula...	OMIM:614837
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate	OMIM:137215
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci...	OMIM:614897
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Cleft palate, Aspiration pneumonia, Micr...	ORPHA:141152
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease...	ORPHA:453533
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Stxbp1-Related Encephalopathy	Cerebral white matter atrophy, Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure wit...	ORPHA:599373
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Optic atrophy, Cerebellar hypoplasia, Microphthalmia, Agenes...	ORPHA:1528
Tubulinopathy-Associated Dysgyria	Ventriculomegaly, Startle-induced seizure, Infantile spasms, Microcephaly, Hypotonia, Generalized...	ORPHA:467166
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Delpire-Mcneill Syndrome	Tracheoesophageal fistula, Dysphagia	OMIM:619083
Retinitis Pigmentosa 42	Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu...	OMIM:612943
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Adenohypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95512
Panhypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95513
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ...	ORPHA:83461
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate	ORPHA:1074
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Median cleft palate	ORPHA:2432
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Jejunal Atresia	Jejunal atresia	OMIM:243600
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:261800
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Small scrotum, Hypogonadotropic hypogonad...	OMIM:308700
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl...	OMIM:229070
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:120433
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	EEG abnormality, Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Corpus callosum atrophy...	OMIM:301107
Delayed Puberty, Self-Limited	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula...	OMIM:619613
Gangliocytoma	Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent...	ORPHA:251937
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Generalized dystonia, Rigidity, Basal ganglia calcification, Seizure, Hypertonia, Thalamic calcif...	OMIM:618824
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Joubert Syndrome 40	Optic nerve hypoplasia	OMIM:619582
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Diffuse cerebral atrophy, Decreased thalamic volume, Seizure, Hypertonia, Secondary microcephaly,...	OMIM:613668
Gombo Syndrome	Microphthalmia, Microcephaly	OMIM:233270
Emphysema, Congenital Lobar	Respiratory distress, Bronchial cartilage hypoplasia	OMIM:130710
Ane Syndrome	Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h...	ORPHA:157954
Methimazole Embryofetopathy	Esophageal atresia, Tracheoesophageal fistula	ORPHA:1923
Variant Abeta2M Amyloidosis	Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue, Gastrointe...	ORPHA:314652
Anencephaly 2	Anophthalmia, Median cleft palate, Median cleft lip, Cleft maxillary alveolar ridge	OMIM:619452
Polymicrogyria With Optic Nerve Hypoplasia	Hypoplasia of the brainstem, Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:250972
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Alpha-1-Antitrypsin Deficiency	Hepatocellular carcinoma, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, ...	OMIM:613490
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Cerebellar hypoplasia, Microphthalmia, Retinal dysplasia	OMIM:614830
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, D...	ORPHA:2494
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Cerebellar hypoplasia, Optic nerve hypoplasia	ORPHA:65288
Autism, Susceptibility To, X-Linked 2	EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be...	OMIM:300495
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Spastic tetraplegia, Decreased thalamic volume, Abnormal basal ganglia morphology, Dystonia	OMIM:618646
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death, Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Septooptic Dysplasia	Agenesis of corpus callosum, Optic disc hypoplasia, Optic nerve hypoplasia	OMIM:182230
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Adenocarcinoma Of The Esophagus	Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux, Cough	ORPHA:99976
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia, Death in infancy	OMIM:226730
Congenital Tracheomalacia	Apnea, Decreased peak expiratory flow, Gastroesophageal reflux, Cough, Emphysema, Neonatal respir...	ORPHA:95430
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Decreased serum insulin-like growth factor 1, Ectopi...	OMIM:620303
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Orofacial Cleft 13	Oligodontia, Cleft soft palate	OMIM:613857
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Perching Syndrome	Respiratory distress, High palate, Scoliosis, Dysphagia	OMIM:617055
Microphthalmia, Isolated 6	Microphthalmia, Retinal fold	OMIM:613517
Isolated Growth Hormone Deficiency, Type Iv	Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth...	OMIM:618157
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Hypoplasia of the brainste...	OMIM:615771
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho...	ORPHA:399808
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:614402
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Martinez-Frias Syndrome	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Duoden...	OMIM:601346
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Spermatogenic Failure 51	Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp...	OMIM:619177
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Non-Acquired Isolated Growth Hormone Deficiency	Anterior hypopituitarism	ORPHA:631
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Caudate atrophy, Basal ganglia calcification, T2 hypointense thalamus, Leukoencephalopathy, Seizu...	OMIM:618193
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting	OMIM:609218
Autosomal Dominant Focal Dystonia, Dyt25 Type	Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,...	ORPHA:329466
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A...	OMIM:613986
Pierre Robin Sequence With Facial And Digital Anomalies	Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:311895
Hypogonadotropic Hypogonadism 27 Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi...	OMIM:619755
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1	Axial hypotonia, Infantile spasms, Tonic seizure, Spastic tetraplegia, Seizure, Focal clonic seiz...	OMIM:251280
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Microcephaly, Hydrocephalus, Cortical dysplasia, Hypotonia, Seizure, Attention deficit hyperactiv...	OMIM:618709
Cleft Palate, Isolated	Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate	OMIM:119540
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Cerebellar atrophy, Epileptic spasm, Severe muscular hypotonia, Oculogyric crisis, Microcephaly, ...	OMIM:614254
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor	OMIM:243320
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Bilateral cleft lip and palate	OMIM:600776
2q33.1 deletion syndrome	High palate, Cleft palate	DECIPHER:51
Brooke-Spiegler Syndrome	Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo...	ORPHA:79493
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc...	OMIM:102200
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula...	OMIM:614842
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con...	ORPHA:99832
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p...	OMIM:613038
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Chromosome 15Q11-Q13 Duplication Syndrome	EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be...	OMIM:608636
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Cleft Palate-Lateral Synechia Syndrome	Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth	ORPHA:2016
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural hearing impairm...	OMIM:619947
Phosphoribosylaminoimidazole Carboxylase Deficiency	Neonatal death, Esophageal atresia, Tracheoesophageal fistula	OMIM:619859
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Oral-pharyngeal dysphagia, Diffuse white matter abnormalities, Abnorma...	ORPHA:208447
Dystonia 33	Axial dystonia, Limb dystonia, Axial hypotonia, Dystonia, Neonatal seizure, Spasticity	OMIM:619687
Tongue, Pigmented Fungiform Papillae Of	Abnormality of the tongue	OMIM:275250
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Pontocerebellar Hypoplasia, Type 15	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Hydrocephalus, Partial age...	OMIM:619302
Auditory Neuropathy And Optic Atrophy	Rod-cone dystrophy, Optic atrophy	OMIM:617717
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Esophageal atresia, Tracheoesophageal fistula, Anal atresia	OMIM:314390
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme...	OMIM:611584
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Spermatogenic Failure 8	Azoospermia, Cryptozoospermia, Oligozoospermia	OMIM:613957
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism	Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test	OMIM:300123
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebellar atrophy, Ventriculomegaly, Bilateral tonic-clonic seizure, Hypotonia, Hand tremor, Dys...	OMIM:617862
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Dystonia 32	Torticollis, T2 hypointense basal ganglia, Dysphagia, Brain atrophy, Limb dystonia, Laryngeal dys...	OMIM:619637
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	Velopharyngeal insufficiency	OMIM:617732
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Axial hypotonia, Microcephaly, Aggressive behavior, Focal motor status epilepticus, Focal-onset s...	OMIM:619150
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve...	OMIM:614839
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes...	OMIM:618108
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia	OMIM:610125
Non-Syndromic Posterior Hypospadias	Esophageal atresia, Anal atresia, Cleft palate	ORPHA:95706
Amyotrophic Lateral Sclerosis 2, Juvenile	Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lower motor ...	OMIM:205100
Coffin-Siris Syndrome 11	Esophageal atresia, High palate, Bifid uvula, Cleft soft palate	OMIM:618779
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Fanconi Anemia, Complementation Group Q	Anteriorly placed anus, Esophageal atresia	OMIM:615272
Amyotrophic Lateral Sclerosis 1	Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal tracts, Degeneration of ...	OMIM:105400
Panhypopituitarism, X-Linked	Panhypopituitarism	OMIM:312000
Pituitary Dwarfism With Large Sella Turcica	Hypothyroidism, Decreased response to growth hormone stimulation test	OMIM:262710
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Dysphagia, Spasticity	OMIM:617892
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ...	OMIM:619949
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Seizure, Hypo...	OMIM:604213
Basal Ganglia Calcification, Idiopathic, 5	Cerebral calcification, Postural tremor, Basal ganglia calcification, Hand tremor, Athetosis, Tha...	OMIM:615483
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Macular atrophy, Microcephaly, Hypoplasia of the pons, Partial agenesis of the...	OMIM:616171
Neuroferritinopathy	Resting tremor, Caudate atrophy, Writer's cramp, Abnormal putamen morphology, T2 hypointense thal...	ORPHA:157846
17Q12 Microduplication Syndrome	Tracheoesophageal fistula, Cleft palate	ORPHA:261272
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hydrocephalus, Hypotonia, Seizure, Fusion of the left and...	OMIM:617542
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Microcephaly, Focal-onset seizure, Decreased thalamic volume, Simplified gyral pattern, Myoclonic...	OMIM:619072
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Cleft palate	OMIM:616570
Congenital Tracheal Stenosis	Respiratory distress, Abnormal bronchus morphology, Abnormal stomach morphology, Neonatal asphyxi...	ORPHA:141127
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Muir-Torre Syndrome	Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma sebaceum, Colon ...	ORPHA:587
Pituitary Apoplexy	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	ORPHA:95613
X-Linked Intellectual Disability, Najm Type	Optic nerve hypoplasia, Microcephaly, Optic atrophy, Cerebellar hypoplasia, Chorioretinal colobom...	ORPHA:163937
Developmental And Epileptic Encephalopathy 9	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive...	OMIM:300088
Mmep Syndrome	Microphthalmia, Median cleft lip, Orofacial cleft	ORPHA:3434
Schisis Association	Anal atresia, Tracheoesophageal fistula, Cleft palate	ORPHA:63862
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration	ORPHA:3233
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,...	ORPHA:100973
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma...	ORPHA:500166
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Cleft palate, Respiratory insufficiency, Restricti...	OMIM:614399
Ceroid Lipofuscinosis, Neuronal, 9	Psychomotor deterioration, Rod-cone dystrophy, Optic atrophy	OMIM:609055
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia	Microcephaly, Diffuse white matter abnormalities, Seizure, Secondary microcephaly, Generalized hy...	OMIM:616763
Deafness, X-Linked 5, With Peripheral Neuropathy	Abnormal middle ear reflexes, Vertigo, Unsteady gait, Cochlear nerve hypoplasia, Abnormal speech ...	OMIM:300614
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Dystonia, Basal ganglia calcification, Thalamic calcification, Brain atrophy, Dysphagia	OMIM:618317
Spinocerebellar Ataxia, Autosomal Recessive 3	Ataxia, Cochlear degeneration, Hearing impairment	OMIM:271250
Lissencephaly 4	Simplified gyral pattern, Seizure, Colpocephaly, Hypertonia, Lissencephaly, Primary microcephaly,...	OMIM:614019
Cap Polyposis	Atrophic gastritis, Diarrhea, Hematochezia, Constipation, Colorectal polyposis	ORPHA:160148
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respiratory failure, D...	ORPHA:1832
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618890
Microphthalmia, Syndromic 8	Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Microph...	OMIM:601349
Usher Syndrome Type 3	Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction, I...	ORPHA:231183
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Agenesis of corpus callosum, Optic nerve hypoplasia, Microcephaly	OMIM:614833
Chromosome 17Q12 Duplication Syndrome	Esophageal atresia, Cleft soft palate	OMIM:614526
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Disinhibition, Dysphagia, Spasticity, Abnormal repetitive mannerisms	OMIM:612069
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Primary Dystonia, Dyt17 Type	Torticollis, Generalized dystonia, Cerebral cortical atrophy, Craniofacial dystonia	ORPHA:370103
5Q14.3 Microdeletion Syndrome	Frontal cortical atrophy, Agenesis of cerebellar vermis, Optic nerve hypoplasia, Hypoplasia of th...	ORPHA:228384
Sheehan Syndrome	Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p...	ORPHA:91355
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Barrett Esophagus	Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux	OMIM:614266
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte...	OMIM:619751
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Developmental And Epileptic Encephalopathy 53	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Hypotonia, M...	OMIM:617389
Leukoencephalopathy With Dystonia And Motor Neuropathy	Torticollis, Leukoencephalopathy, Focal T2 hyperintense thalamic lesion, Head tremor, Dystonia, I...	OMIM:613724
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basal ganglia, Infantile...	ORPHA:300570
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen...	OMIM:177650
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Recurrent sin...	OMIM:616576
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L...	ORPHA:98807
Oxoglutaric Aciduria	Abnormal salivary gland morphology	ORPHA:31
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst, Optic atrophy	OMIM:620086
Hereditary Mucoepithelial Dysplasia	Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue	ORPHA:1839
Pontocerebellar Hypoplasia, Type 1A	Neuronal loss in basal ganglia, Microcephaly, Hypotonia, Hand tremor, Degeneration of anterior ho...	OMIM:607596
Portal Hypertension, Noncirrhotic, 1	Esophageal varix	OMIM:617068
Optic Atrophy--Spastic Paraplegia Syndrome	Optic atrophy	OMIM:311100
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Tremor, ...	ORPHA:52368
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal cerebral white ma...	OMIM:602099
Leydig Cell Hypoplasia, Type I	Increased circulating gonadotropin level, Hypergonadotropic hypogonadism	OMIM:238320
Intellectual Developmental Disorder With Autism And Speech Delay	Abnormal repetitive mannerisms	OMIM:606053
Rhombencephalosynapsis	Esophageal atresia, Aganglionic megacolon, Tracheoesophageal fistula, Anal atresia	ORPHA:59315
Endocardial Fibroelastosis	Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis	ORPHA:2022
Optic Atrophy 2	Optic atrophy	OMIM:311050
Premature Ovarian Failure 17	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi...	OMIM:619146
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, High palate, Narrow mouth	ORPHA:2528
Chromosome 19P13.13 Deletion Syndrome	Optic atrophy, Optic nerve hypoplasia, Microcephaly	OMIM:613638
Usher Syndrome Type 1	Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction, I...	ORPHA:231169
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Premature Ovarian Failure 1	Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation	OMIM:311360
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant	Optic atrophy	OMIM:165199
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Restlessness, Dystonia, Infantile spasms, Spastic tetraplegia, Abnormal basal ganglia morphology,...	ORPHA:263410
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior	OMIM:617270
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Hypergonadotropic Hypogonadism-Cataract Syndrome	Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se...	ORPHA:2410
Fanconi Anemia, Complementation Group B	Esophageal atresia, Death in infancy, Tracheoesophageal fistula, Duodenal atresia	OMIM:300514
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Enlarged sylvian cistern, Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, ...	OMIM:619616
Ceroid Lipofuscinosis, Neuronal, 11	Mental deterioration, Optic atrophy, Retinal dystrophy	OMIM:614706
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies	Posteriorly rotated ears, Low-set ears, Thin eyebrow, High anterior hairline, Recurrent hand flap...	OMIM:618147
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Optic atrophy, Cerebral atrophy, Microphthalmia, Agenesis of corpus callosum	OMIM:274270
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis, Hypospadias, Diarrhea, Glandular hypospadias, Shawl scrotum	ORPHA:2575
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy	OMIM:136600
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Septo-Optic Dysplasia Spectrum	Esophageal atresia, Constipation, Tracheoesophageal fistula, Cleft palate	ORPHA:3157
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Esophageal atresia, Tracheoesophageal fistula	ORPHA:77298
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7	Focal-onset seizure, Hypotonia, Seizure, Secondary microcephaly, Brain atrophy, Dystonia, Refract...	OMIM:620359
Cocaine Embryofetopathy	Intestinal atresia	ORPHA:1911
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Parc Syndrome	Cleft palate	OMIM:600331
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Developmental And Epileptic Encephalopathy 7	Spastic tetraparesis, Hypotonia, Seizure, Hypoplasia of the corpus callosum, Dystonia	OMIM:613720
Congenital Contractural Arachnodactyly	Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia	ORPHA:115
Dystonia 6, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ...	OMIM:602629
Pontocerebellar Hypoplasia, Type 14	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hypot...	OMIM:619301
Esophageal Atresia	Respiratory distress, Barrett esophagus, Intestinal malrotation, Pyloric stenosis, Gastrointestin...	ORPHA:1199
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia, ...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia, ...	OMIM:616437
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Spastic tetraparesis, Microcephaly, Tremor, Aggressive behavior, Hydrocephalus, Si...	OMIM:619470
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Cleft palate, Hy...	ORPHA:506353
Hemidystonia-Hemiatrophy Syndrome	Abnormal basal ganglia MRI signal intensity, Limb dystonia, Seizure, Dystonia, Abnormal periventr...	ORPHA:306741
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Schizencephaly, Microcephaly, Focal-onset seizure, Cortical dysplasia, Dysgen...	ORPHA:300573
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Auriculocondylar Syndrome 2A	Respiratory distress, Dental crowding, Apnea, Microglossia, Dental malocclusion, Cleft palate, Ma...	OMIM:614669
Developmental And Epileptic Encephalopathy 107	Axial hypotonia, Microcephaly, Tonic seizure, Clonic seizure, Hypotonia, Seizure, Appendicular hy...	OMIM:620033
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia	OMIM:619227
Developmental And Epileptic Encephalopathy 99	Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Microce...	OMIM:619606
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, D...	ORPHA:210122
Infantile Myofibromatosis	Intestinal obstruction, Abnormal intestine morphology, Tracheoesophageal fistula	ORPHA:2591
Leukoencephalopathy, Brain Calcifications, And Cysts	Cerebral calcification, Tremor, Leukoencephalopathy, Seizure, Dystonia, Spasticity	OMIM:614561
Autosomal Recessive Spastic Paraplegia Type 56	Abnormal globus pallidus morphology, Spastic paraplegia, Abnormal cerebral white matter morpholog...	ORPHA:320411
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Microphthalmia, Retinal dystrophy, Chorioretinal coloboma	ORPHA:231736
Continuous Spikes And Waves During Sleep	Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic seizure, Focal-onset seizur...	ORPHA:725
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Agenesis of corpus callosum, Dandy-...	OMIM:618736
New-Onset Refractory Status Epilepticus	Abnormal basal ganglia MRI signal intensity, Seizure precipitated by febrile infection, Bilateral...	ORPHA:363558
Dystonia 4, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Dysphagia, Limb dystonia	OMIM:128101
Cognitive Impairment With Or Without Cerebellar Ataxia	Optic nerve hypoplasia	OMIM:614306
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Amyotrophic lateral sclerosis, Dysphagia, Dystonia	OMIM:300857
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ...	OMIM:273250
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Cer...	OMIM:617493
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia...	OMIM:609425
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in...	OMIM:615237
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia, Cleft palate	OMIM:164180
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D...	OMIM:619761
Joubert Syndrome 26	Micropenis, Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hy...	OMIM:616784
Ovarian Dysgenesis 1	Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea	OMIM:233300
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Hypotonia, Self-injurious behavior, Seizure, Hypoplasia of the corpus callosum, Dystonia, Spastic...	OMIM:617820
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebellar atrophy, Generalized myoclonic seizure, T2 hypointense thalamus, Spastic tetraplegia, ...	ORPHA:1947
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Weaver-Williams Syndrome	Cleft palate, Narrow mouth	ORPHA:3448
Isolated Growth Hormone Deficiency, Type Ii	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te...	OMIM:173100
Gastritis, Familial Giant Hypertrophic	Giant hypertrophic gastritis	OMIM:137280
Feingold Syndrome 2	Intestinal atresia	OMIM:614326
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum	Microcephaly, Cogwheel rigidity, Hypertonia, Attention deficit hyperactivity disorder, Dystonia, ...	OMIM:618284
Developmental And Epileptic Encephalopathy 31A	Diffuse cerebral atrophy, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Hypoton...	OMIM:616346
Parasomnia, Sleep Bruxism Type	Bruxism	OMIM:606840
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome	Paroxysmal dystonia, Focal hemifacial clonic seizure, Seizure, Writer's cramp	ORPHA:163727
Hyperprolactinemia	Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration	OMIM:615555
Premature Ovarian Failure 16	Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat...	OMIM:618723
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Microcephaly, Clonic seizure, Cortical dysplasia, Spastic tetraplegia, Self-injurious behavior, S...	OMIM:615282
Chronic Granulomatous Disease	Sinusitis, Malabsorption, Pyloric stenosis, Chronic pulmonary obstruction, Tracheoesophageal fistula	ORPHA:379
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Pituitary Carcinoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro...	ORPHA:300385
Spastic Paraplegia 81, Autosomal Recessive	Retinal vascular tortuosity, Optic atrophy, Bifid uvula, Cleft palate	OMIM:618768
Dystonia With Cerebellar Atrophy	Cerebellar atrophy, Torticollis, Dystonia, Dysphagia, Craniofacial dystonia	OMIM:611694
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Aggressive behavior, Anteverted ears, Synophrys, Macrotia, Abnormal repetitive man...	OMIM:615541
Hypogonadism-Cataract Syndrome	Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti...	OMIM:240950
Hyperprolinemia, Type I	EEG abnormality, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:239500
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Tooth agenesis, Microphthalmia, High palate, Cleft palate	ORPHA:1135
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of the po...	ORPHA:370959
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Esophageal atresia, Cleft palate	OMIM:610536
Dystonia 25	Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia	OMIM:615073
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio...	ORPHA:436159
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia	ORPHA:137634
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Congenital pyloric atresia	OMIM:612138
Pendred Syndrome	Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th...	ORPHA:705
Combined Oxidative Phosphorylation Deficiency 51	Rigidity, Focal T2 hyperintense thalamic lesion, Myoclonus, Cerebral atrophy	OMIM:619057
Dystonia 23	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dys...	OMIM:614860
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr...	ORPHA:91354
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Bilateral tonic-clonic seizure, Reduced cerebral white matter volume, Dysplastic corpus callosum,...	OMIM:620317
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Dysphagia	OMIM:617839
Oliver-Mcfarlane Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulat...	OMIM:275400
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Generalized-onset seizure, Tremor, Degeneration of anterior horn cells, Myoclonus, Dysphagia, Gen...	OMIM:159950
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig...	ORPHA:91351
Cach Syndrome	Cerebellar atrophy, Microcephaly, T2 hypointense thalamus, Spastic diplegia, Cerebral atrophy, In...	ORPHA:135
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum	Basal ganglia calcification, Spastic paraplegia, Abnormal cerebral white matter morphology, Hypop...	OMIM:615030
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Generalized dystonia, Corpus callosum...	OMIM:619389
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Premature ovarian insufficiency...	OMIM:240300
Trochlea Of The Humerus, Aplasia Of	Cleft palate	OMIM:191000
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, M...	OMIM:617914
Omphalocele-Cleft Palate Syndrome, Lethal	Bifid uvula, Cleft palate	OMIM:258320
Myoclonus-Dystonia Syndrome	Torticollis, Writer's cramp, Myoclonus, Compulsive behaviors, Dystonia, Spinal myoclonus, Limb my...	ORPHA:36899
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Inappropriate be...	ORPHA:412066
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Axial hypotonia, Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Thin corpus callosum	OMIM:619651
Foxg1 Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Abnormal repetitive mannerisms, Focal-onset sei...	ORPHA:561854
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Hypotonia, Cerebral atrophy, Brux...	OMIM:618497
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation	ORPHA:2978
Acces Syndrome	Tracheoesophageal fistula	OMIM:619959
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Developmental And Epileptic Encephalopathy 13	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:614558
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Retinal dystrophy, High palate, Chorioretinal coloboma, Microphthalmia	ORPHA:139471
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, EEG abnormality, Low-set ears,...	OMIM:618718
Feingold Syndrome	Esophageal atresia, Duodenal atresia	ORPHA:1305
Braddock-Carey Syndrome 2	Wide mouth, Microphthalmia, Pierre-Robin sequence, Cleft palate	OMIM:619981
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Congenital Diaphragmatic Hernia	Respiratory distress, Intestinal malrotation, Hypoxemia	ORPHA:2140
Developmental And Epileptic Encephalopathy 57	Epileptic spasm, Reduced cerebral white matter volume, Tonic seizure, Hypotonia, Seizure, Hypopla...	OMIM:617771
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Microphthalmia, Optic atrophy, Chorioretinal coloboma	ORPHA:1473
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:605809
Sirenomelia	Tracheoesophageal fistula, Anal atresia	ORPHA:3169
Axial Mesodermal Dysplasia Spectrum	Anorectal anomaly, Tracheoesophageal fistula, Gastroesophageal reflux, Abnormal intestine morphol...	ORPHA:1834
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hypoplasia of the pons, Micro...	OMIM:620157
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizu...	ORPHA:77299
Leukodystrophy, Hypomyelinating, 14	Cerebellar atrophy, Microcephaly, Cerebral atrophy, Seizure, Generalized hypotonia, Dystonia, Spa...	OMIM:617899
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia, Cleft palate, Cleft upper lip	OMIM:613885
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis, Spasticity, Dysphagia	OMIM:614808
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Microceph...	ORPHA:485350
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71526
Congenital Varicella Syndrome	Microphthalmia, Cerebral cortical atrophy, Microcephaly	ORPHA:291
Cerebrooculonasal Syndrome	Anophthalmia, High palate, Widely spaced teeth, Solitary median maxillary central incisor, Long p...	ORPHA:66625
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Diffuse cerebral atrophy, Scissor gait, Cogwheel rigidity, Seizure, Lateral ventr...	ORPHA:363654
Bronchogenic Cyst	Pneumonia, Abnormal stomach morphology, Dyspnea, Dysphagia, Cough, Abnormal esophagus morphology	ORPHA:2357
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Disinhibition, Inappropriate laughter, Neuronal loss in central ne...	OMIM:600274
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Rod-cone dystrophy, Retinal coloboma	ORPHA:363741
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate	ORPHA:2736
Developmental And Epileptic Encephalopathy 67	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Gene...	OMIM:618141
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Leukoencephalopathy, Hand tremor, Spasticity, Lateral ventricle dilatation, N...	OMIM:615889
Orthostatic Hypotension 1	Retrograde ejaculation, Reduced circulating prolactin concentration	OMIM:223360
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Microcephaly, Tonic seizure, Seizure, Myoclonus, Generalized hypo...	OMIM:617391
Nephrosis With Deafness And Urinary Tract And Digital Malformations	Bifid uvula	OMIM:256200
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:2521
Morbid Obesity And Spermatogenic Failure	Azoospermia, Infertility, Type II diabetes mellitus, Oligozoospermia	OMIM:615703
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Amyotrophic Lateral Sclerosis 16, Juvenile	Lower limb spasticity, Amyotrophic lateral sclerosis	OMIM:614373
Lissencephaly Due To Tuba1A Mutation	Cerebellar vermis hypoplasia, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Partia...	ORPHA:171680
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Lymphocytic infiltration of the co...	OMIM:616100
Benign Paroxysmal Torticollis Of Infancy	Abnormal head movements, Vertigo, Ataxia, Torticollis	ORPHA:71518
Robin Sequence-Oligodactyly Syndrome	Glossoptosis, Cleft palate, Abnormality of the dentition	ORPHA:3104
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Axial hypotonia, Spastic tetraparesis, Microcephaly, Simplified gyral pattern, Periventricular cy...	OMIM:617668
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Dementia, Optic atrophy	OMIM:182830
Leukoencephalopathy, Cystic, Without Megalencephaly	Cerebral calcification, Microcephaly, Leukoencephalopathy, Athetosis, Seizure, Dystonia, Spastici...	OMIM:612951
Cleft Velum	Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Axial hypotonia, Tremor, Bruxism, Cerebral atrophy, Dysphagi...	OMIM:617435
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Olivopontocerebellar Atrophy-Deafness Syndrome	Optic atrophy, Chorioretinal coloboma	ORPHA:2732
Bresek Syndrome	Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly	ORPHA:85284
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Hydrolethalus	Anophthalmia, Submucous cleft hard palate, Gingival cleft, Cleft palate, Abnormality of the sense...	ORPHA:2189
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Buphthalmos, Chorioretinal coloboma, Micr...	OMIM:212550
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Axial hypotonia, Focal-onset seizure, Self-injurious behavior, Hypoplasia of the corpus callosum,...	OMIM:618760
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Cough, Pleural ...	ORPHA:50251
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Bilateral tonic-clonic seizure, Microcephaly, Nocturnal seizures, Cogwheel rigidi...	OMIM:619725
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Focal-onset se...	OMIM:618917
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Bilateral tonic-clonic seizure, Aggressive behavior, Microcephaly, Focal-onset seizure, Hypotonia...	OMIM:619157
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Microcephaly, Dysplastic corpus callosum, Hypotonia, Dystonia, Spasticity, Gl...	OMIM:618276
7Q31 Microdeletion Syndrome	Torticollis, Hyperactivity, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-...	ORPHA:251061
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Furrowed tongue	ORPHA:2743
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Axial hypotonia, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly,...	OMIM:616139
Microphthalmia, Syndromic 13	Microphthalmia, Chorioretinal coloboma, Microcephaly	OMIM:300915
Glycosylphosphatidylinositol Biosynthesis Defect 17	Aggressive behavior, Dysplastic corpus callosum, Seizure, Generalized hypotonia, Primary microcep...	OMIM:618010
Raynaud-Claes Syndrome	Lower limb spasticity, Dystonia, Microcephaly, Aggressive behavior, Hypotonia, Cerebral atrophy, ...	OMIM:300114
Spinocerebellar Ataxia With Epilepsy	Cerebral infarct, Bilateral tonic-clonic seizure with focal onset, Tremor, Focal T2 hyperintense ...	ORPHA:254881
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be...	OMIM:614500
Epilepsy, Nocturnal Frontal Lobe, 4	Nocturnal seizures, Dystonia	OMIM:610353
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Premature...	ORPHA:895
Lissencephaly 10	Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se...	OMIM:618873
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin...	OMIM:613265
Premature Ovarian Failure 15	Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l...	OMIM:618096
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Dystonia, Impulsivity, Microcephaly, Aggressive behavior, Cerebral atrophy, Dyspha...	ORPHA:500180
Microgastria-Limb Reduction Defect Syndrome	Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist...	ORPHA:2538
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Reduced cerebral white matter volume, Infantile spasms, Tonic sei...	OMIM:618396
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ...	ORPHA:101039
Meningioma	Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re...	ORPHA:2495
Juvenile Amyotrophic Lateral Sclerosis	Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Microcephaly, Head titubati...	ORPHA:300605
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:618117
Unilateral Hemispheric Polymicrogyria	Thick cerebral cortex, Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Fo...	ORPHA:101071
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Hypothyroidism, Ps...	ORPHA:37042
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy	OMIM:105500
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadism, Micropenis, ...	ORPHA:3363
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, White eyelashes, White eyebrow, Aganglionic meg...	OMIM:609136
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Developmental And Epileptic Encephalopathy 16	Severe muscular hypotonia, Microcephaly, Clonic seizure, Hypotonia, Cerebral atrophy, Secondary m...	OMIM:615338
Developmental And Epileptic Encephalopathy 58	Abnormal repetitive mannerisms, Hypsarrhythmia	OMIM:617830
Laryngomalacia	Respiratory distress, Abnormal tracheal morphology, Congenital laryngeal stridor	OMIM:150280
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Retinal dysplasia, Orofacial cleft	ORPHA:324416
Alg13-Cdg	Abnormal lateral ventricle morphology, Generalized hypotonia, Infantile spasms, Global brain atrophy	ORPHA:324422
X-Linked Intellectual Disability, Van Esch Type	Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence...	ORPHA:163976
Ovarian Dysgenesis 4	Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno...	OMIM:616185
Autism, Susceptibility To, 3	EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be...	OMIM:608049
Developmental And Epileptic Encephalopathy 1	Axial hypotonia, Generalized myoclonic seizure, Spastic tetraparesis, Microcephaly, Tonic seizure...	OMIM:308350
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size	OMIM:614880
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms, Hypsarrhythmia	OMIM:616341
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, ...	ORPHA:330050
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Dravet Syndrome	Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in...	OMIM:607208
Leukoencephalopathy With Vanishing White Matter 2	Memory impairment, Cataract, Optic atrophy	OMIM:620312
Bonnemann-Meinecke-Reich Syndrome	Decreased response to growth hormone stimulation test	ORPHA:1261
Leiomyoma Of Vulva And Esophagus	Esophageal obstruction	OMIM:150700
2Q24 Microdeletion Syndrome	Microphthalmia, Abnormal oral frenulum morphology, Short philtrum, Cleft palate	ORPHA:1617
Trichothiodystrophy 5, Nonphotosensitive	Retinal dystrophy, Optic nerve hypoplasia, Microcephaly, Progressive microcephaly, Cerebellar hyp...	OMIM:300953
Paroxysmal Nonkinesigenic Dyskinesia 2	Paroxysmal dystonia, Seizure	OMIM:611147
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Respiratory insufficiency, Tracheoesophageal fistula, Intestinal malrotation, Anal atresia	ORPHA:2973
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration, Cough, Dysphagia	ORPHA:77260
Retinitis Pigmentosa 89	Retinal thinning, Rod-cone dystrophy, Esophageal varix, Hyperautofluorescent retinal lesion	OMIM:618955
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala...	ORPHA:254864
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Death in infancy	OMIM:614876
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Thin upper lip vermilion, Neonatal respiratory distress, Death in infancy, ...	OMIM:615042
Walker-Warburg Syndrome	Retinal detachment, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Submucous cleft har...	ORPHA:899
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis, Spasticity	OMIM:611895
Diaphanospondylodysostosis	Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Respir...	ORPHA:66637
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach	OMIM:114500
Holzgreve Syndrome	Cleft palate, Cleft upper lip	OMIM:236110
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Peripheral axonal neuropathy, Peripheral dysmyelination, Abn...	ORPHA:101082
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Ataxia, Abnormal ey...	ORPHA:2885
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Axial hypotonia, Microcephaly, Tremor, Abnormal cerebral white m...	OMIM:607317
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence	OMIM:192445
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt...	ORPHA:300373
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction, High palate, Hypodontia, Narrow mouth, Microglossia	OMIM:612776
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Cholesteryl Ester Storage Disease	Diarrhea, Esophageal varix	ORPHA:75234
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Abnormal cerebral white mat...	ORPHA:79264
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cognitive impairment	ORPHA:2246
Growth Hormone Deficiency, Isolated Partial	Small pituitary gland, Decreased response to growth hormone stimulation test	OMIM:615925
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti...	ORPHA:263479
Japanese Encephalitis	Anorexia, Tremor, Opisthotonus, Choreoathetosis, Abnormal caudate nucleus morphology, Hypertonia,...	ORPHA:79139
Familial Acute Necrotizing Encephalopathy	Abnormal putamen morphology, Rigidity, Spastic tetraplegia, Seizure, Hypertonia, Spasticity, Abno...	ORPHA:88619
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Chronic diarrhea, Recurrent pne...	OMIM:614700
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Cortical ...	ORPHA:36387
Small Bowel Atresia	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Vomiting	ORPHA:1201
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Tremor, Cerebral atrophy, Seizure, Myoclonus, Dystonia, Spasticity, Neuronal loss ...	OMIM:615924
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed...	OMIM:612702
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Melena, Fundic gland polyposis, Gastric adenocarcinoma	OMIM:619182
Cofs Syndrome	Abnormality of retinal pigmentation, Microcephaly, Optic atrophy, Aplasia/Hypoplasia of the cereb...	ORPHA:1466
Hyperphenylalaninemia, Bh4-Deficient, C	Cerebral calcification, Microcephaly, Tremor, Hypotonia, Dysphagia, Choreoathetosis, Seizure, Hyp...	OMIM:261630
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Intellectual Developmental Disorder, Autosomal Dominant 39	Aggressive behavior, Hydrocephalus, Generalized non-motor (absence) seizure, Cerebral atrophy, Th...	OMIM:616521
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Dys...	OMIM:613954
Sandhoff Disease, Infantile Form	Exaggerated startle response, Bilateral tonic-clonic seizure, Abnormal thalamic MRI signal intens...	ORPHA:309155
Ovarian Dysgenesis 10	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:619834
Adrenal Hypoplasia, Congenital	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio...	OMIM:300200
Congenital Disorder Of Glycosylation, Type Iy	Joint dislocation, Respiratory distress, Wide mouth, Widely spaced teeth, Scoliosis	OMIM:300934
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Abnormal spaced incisors, Everted lower lip vermilion, Thick vermilion border, Shor...	ORPHA:411986
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Rasmussen Subacute Encephalitis	Subcortical cerebral atrophy, Generalized convulsive status epilepticus, Hyperactivity, Bilateral...	ORPHA:1929
Tumor Predisposition Syndrome 4	Stomach cancer	OMIM:609265
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Xerostomi...	ORPHA:809
Joubert Syndrome 22	Agenesis of cerebellar vermis, Temporal cortical atrophy, Retinal dysplasia, Hypoplasia of the co...	OMIM:615665
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Anophthalmia Plus Syndrome	Non-midline cleft lip, Anophthalmia, Cleft palate, Bilateral cleft lip and palate	ORPHA:1104
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Exudative retinal detachment, Retinal fold, Subretinal fluid	ORPHA:209956
Dystonia, Early-Onset, And/Or Spastic Paraplegia	Laryngeal dystonia, Spastic paraplegia, Dystonia	OMIM:619681
Coats Disease	Aplasia/Hypoplasia of the iris, Retinal detachment, Abnormal retinal vascular morphology, Abnorma...	ORPHA:190
Developmental And Epileptic Encephalopathy 33	Epileptic spasm, Bilateral tonic-clonic seizure, Aggressive behavior, Typical absence seizure, Hy...	OMIM:616409
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Heterochromia iridis, Abnormality of the middle ear ossicles, Severe conductive...	ORPHA:90646
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Cerebellar...	OMIM:606519
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Axial hypotonia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic...	OMIM:619317
Developmental And Epileptic Encephalopathy 26	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:616056
Juvenile Huntington Disease	Cerebellar atrophy, Hyperactivity, Neuronal loss in basal ganglia, Rigidity, Cerebellar vermis at...	ORPHA:248111
Optic Atrophy-Intellectual Disability Syndrome	Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia, Hypoplasia of the corpus callosum	ORPHA:401777
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Vomiting, Cough	ORPHA:137935
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Mental deterioration, Optic atrophy	OMIM:610951
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Seizure, Lateral ventricle dilatation, Spasticity, P...	OMIM:600348
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Prolactinoma	Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ...	ORPHA:2965
Monomelic Amyotrophy	Degeneration of anterior horn cells, Tremor	ORPHA:65684
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Tongue fasciculations, Respiratory insufficiency	ORPHA:238329
Spinal Muscular Atrophy, Type Ii	Degeneration of anterior horn cells, Hand tremor	OMIM:253550
Developmental And Epileptic Encephalopathy 69	Axial hypotonia, Corpus callosum atrophy, Spastic tetraplegia, Status epilepticus, Myoclonus, Dys...	OMIM:618285
Tracheobronchopathia Osteochondroplastica	Abnormal bronchus morphology, Pneumonia, Productive cough, Wheezing, Recurrent pneumonia, Upper a...	ORPHA:3348
Premature Ovarian Failure 2A	Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ...	OMIM:300511
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat...	OMIM:614841
Cartilage-Hair Hypoplasia	Anal stenosis, Aganglionic megacolon, Malabsorption, Esophageal atresia, Constipation	OMIM:250250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Retinal dystrophy, Facial palsy, Microcephaly, Hypoplasia of the br...	OMIM:613155
Trisomy 13	Anophthalmia, Median cleft lip, Abnormality of the dentition, Abnormal retinal vascular morpholog...	ORPHA:3378
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio	OMIM:617272
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Tremor, Impaired vibration sensation in the lower limbs, Impaired proprioception,...	ORPHA:251282
Severe Intellectual Disability And Progressive Spastic Paraplegia	Cerebellar atrophy, Facial hypotonia, Microcephaly, Hypotonia, Spasticity, Spastic dysarthria, Se...	ORPHA:280763
Pontocerebellar Hypoplasia Type 1	Hypotonia, Degeneration of anterior horn cells, Seizure, Cerebral cortical atrophy, Spasticity, T...	ORPHA:2254
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Corneal dystrophy, Developmental cataract	ORPHA:2572
N-Acetylaspartate Deficiency	Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation	OMIM:614063
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Chromosome Xq27.3-Q28 Duplication Syndrome	Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster...	OMIM:300869
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Partial agen...	OMIM:614643
Pontocerebellar Hypoplasia Type 2	Paroxysmal dystonia, Ventriculomegaly, Bilateral tonic-clonic seizure with generalized onset, Abn...	ORPHA:2524
Deafness, Autosomal Dominant 9	Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment	OMIM:601369
Optic Atrophy 11	Optic nerve hypoplasia, Microcephaly, Optic atrophy, Facial diplegia, Cerebellar hypoplasia, Cher...	OMIM:617302
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis, Projectile vomiting	OMIM:179010
Facioscapulohumeral Muscular Dystrophy 1	Tongue atrophy, Exudative retinal detachment, Dysphagia, Retinal telangiectasia	OMIM:158900
Premature Ovarian Failure 14	Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ...	OMIM:618014
Chromosome Xq21 Deletion Syndrome	Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition...	OMIM:303110
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Esophageal stricture, Asthma, Hypodontia, Dysphagia, Enamel hypoplasia	OMIM:616029
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Aggressive behavior, Basal ganglia calcification, Leukoencephalopathy, Cerebral ...	OMIM:221770
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Neuronal loss in central n...	OMIM:105550
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le...	ORPHA:99429
Developmental And Epileptic Encephalopathy 108	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ...	OMIM:620115
Spastic Paraplegia 45, Autosomal Recessive	Lower limb spasticity, Dysplastic corpus callosum, Spastic paraplegia, Hypoplasia of the corpus c...	OMIM:613162
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop...	ORPHA:2198
Aspergillosis	Chronic lung disease, Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnor...	ORPHA:1163
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Myoclonic seizure, ...	OMIM:617113
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag...	ORPHA:2791
Adducted Thumbs Syndrome	High, narrow palate, Velopharyngeal insufficiency, High palate, Cleft palate	OMIM:201550
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper...	OMIM:619326
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Infantile spasms, Tonic seizure, Focal-onset seizure, Hypotonia, Cerebral atrophy, Seizure, Secon...	OMIM:617393
Sandhoff Disease, Adult Form	Tremor, Dysphagia, Focal dystonia, Dystonia, Spasticity	ORPHA:309169
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
3P25.3 Microdeletion Syndrome	Cerebral white matter atrophy, Bilateral tonic-clonic seizure, Hypotonia, Generalized non-motor (...	ORPHA:435638
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Apert Syndrome	Esophageal atresia, Cleft palate, Narrow palate, Respiratory insufficiency, Ectopic anus, Bifid u...	ORPHA:87
Neurodevelopmental Disorder With Dystonia And Seizures	Cerebellar atrophy, Spastic tetraplegia, Hypotonia, Athetosis, Self-injurious behavior, Seizure, ...	OMIM:619922
Xk Aprosencephaly Syndrome	Microphthalmia, Anal atresia, Narrow mouth	ORPHA:3469
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Dysphagia, Esophageal web, Narrow mouth,...	ORPHA:54028
Solitary Median Maxillary Central Incisor	Anophthalmia, Cleft upper lip, Anosmia, Prominent median palatal raphe, Torus palatinus, Solitary...	OMIM:147250
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Peripheral axonal neuropathy, Optic atrophy, Optic nerve hypoplasia	ORPHA:496790
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Ovarian Dysgenesis 5	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:617690
Tay-Sachs Disease	Cerebellar atrophy, Exaggerated startle response, Hypointensity of cerebral white matter on MRI, ...	ORPHA:845
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly...	ORPHA:157798
Zygomycosis	Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Unusual gastrointestinal inf...	ORPHA:73263
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Tracheoesophageal fistula	ORPHA:3068
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hypotonia, Seizure, Colpocephaly, Neonatal death, Pachygyria, Generalized neonatal hypotonia	OMIM:614870
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Retinopathy of prematurit...	ORPHA:447788
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate	ORPHA:209908
Premature Ovarian Failure 8	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Sensorineural hearing impa...	OMIM:193510
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus, Compulsive behaviors	OMIM:159900
Cat-Eye Syndrome	Microphthalmia, Anal atresia, Chorioretinal coloboma	ORPHA:195
Hypogonadism, Male	Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias	OMIM:241100
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Low-set ears, Overfol...	OMIM:619092
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti...	ORPHA:231720
Oculopalatocerebral Syndrome	Microphthalmia, Cleft palate	OMIM:257910
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy, Gastroesophageal reflux	OMIM:616974
Progressive Myoclonic Epilepsy With Dystonia	Diffuse cerebral atrophy, Microcephaly, Status epilepticus, Myoclonus, Dystonia, Generalized myoc...	ORPHA:352596
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal basal ganglia MRI signal intensity, Cerebellar atrophy, Epileptic spasm, Abnormal thalam...	ORPHA:485421
Spastic Paraplegia 74, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy	OMIM:616451
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
Neurodegeneration With Brain Iron Accumulation 6	Dystonia, Rigidity, Spastic tetraplegia, Neurodegeneration, Hypoplasia of the corpus callosum, Sp...	OMIM:615643
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Aplasia/Hypoplasia of the cerebellum, Optic nerve hypoplasia	ORPHA:572013
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Gastroparesis	OMIM:277320
Lethal Recessive Chondrodysplasia	Respiratory distress, Macroglossia, Flared elbow metaphyses	ORPHA:1423
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system	OMIM:608030
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Generalized-onset seizure, Hypotonia, Cerebral atrophy, Abnormal cerebral white matter morphology...	OMIM:617268
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Hypotonia, Athetosis, Self-in...	ORPHA:382
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Tremor, Hypotonia, Cerebral atrophy, ...	OMIM:617916
Jeavons Syndrome	Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with...	ORPHA:139431
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest, Hearing impairment	OMIM:172850
Intellectual Developmental Disorder, X-Linked 90	High palate, Bifid uvula	OMIM:300850
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Respiratory distress, Malabsorption, Intestinal perforation, Cough, ...	ORPHA:537
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level...	OMIM:619938
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Highly arched eyebrow, Sparse eyebrow, Inability to walk, Chorea, Low anteri...	OMIM:618004
Christianson Syndrome	Dystonia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Macrotia, Abnormal repe...	ORPHA:85278
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr...	OMIM:608105
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
X-Linked Intellectual Disability, Cilliers Type	Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l...	ORPHA:163971
Pontocerebellar Hypoplasia, Type 9	Axial hypotonia, Facial hypotonia, Dysphagia, Seizure, Hypertonia, Secondary microcephaly, Hypopl...	OMIM:615809
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Postural tremor, Dysphagia	OMIM:608627
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Aggressive behavior, Torsion dystonia, Generalized non-motor (absence) sei...	ORPHA:98811
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula...	ORPHA:54
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
3-Methylglutaconic Aciduria Type 1	Spastic tetraparesis, Microcephaly, Abnormal basal ganglia morphology, Seizure, Dystonia	ORPHA:67046
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
16P11.2P12.2 Microduplication Syndrome	Seizure, Dystonia, Attention deficit hyperactivity disorder, Microcephaly	ORPHA:261204
Developmental And Epileptic Encephalopathy 44	Cerebellar atrophy, Axial hypotonia, Infantile spasms, Cerebral atrophy, Athetosis, Seizure, Seco...	OMIM:617132
Igg4-Related Submandibular Gland Disease	Xerostomia, Enlarged lacrimal glands, Abnormal pancreas morphology, Enlargement of parotid gland,...	ORPHA:449432
Spastic Paraplegia 47, Autosomal Recessive	Microcephaly, Spastic paraplegia, Spasticity, Seizure, Hypertonia, Hypoplasia of the corpus callo...	OMIM:614066
Ceroid Lipofuscinosis, Neuronal, 3	Psychomotor deterioration, Cataract, Optic atrophy, Macular degeneration, Dementia, Rod-cone dyst...	OMIM:204200
Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	ORPHA:2717
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2	Rigidity, Leukoencephalopathy, Dystonia	OMIM:619661
Pituitary Hormone Deficiency, Combined, 3	Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati...	OMIM:221750
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A...	ORPHA:183675
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Difficulty wal...	OMIM:617695
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Spastic tetraplegia, Choreoathetosis, Seizure, Generalized hypotonia, Dystonia, ...	OMIM:618238
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lower limb spasticity, Dystonia, Microcephaly, Hypotonia, Cerebral atrophy, Seizure, Generalized ...	OMIM:616756
Lissencephaly 8	Microcephaly, Optic atrophy, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of th...	OMIM:617255
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ...	OMIM:604393
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Al Amyloidosis	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Nonproductive cough, Dysp...	ORPHA:85443
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Dystonia 28, Childhood-Onset	Torticollis, Microcephaly, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spas...	OMIM:617284
Intellectual Developmental Disorder, Autosomal Dominant 5	Torticollis, Bilateral tonic-clonic seizure, Microcephaly, Hypotonia, Seizure, Brain atrophy, Myo...	OMIM:612621
Developmental And Epileptic Encephalopathy 56	Hypotonia, Focal motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizu...	OMIM:617665
Renal Agenesis, Bilateral	Abnormal intestine morphology, Tracheoesophageal fistula, Cleft palate	ORPHA:1848
Primary Lateral Sclerosis, Adult, 1	Spastic tetraparesis, Spastic dysarthria, Dysphagia, Abnormal upper motor neuron morphology, Spas...	OMIM:611637
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis	Paroxysmal dystonia, Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Paroxysmal...	OMIM:602066
Premature Ovarian Failure 6	Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi...	OMIM:612310
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Dysphagia	OMIM:613435
Dystonia 17, Torsion, Autosomal Recessive	Torticollis, Focal dystonia	OMIM:612406
Nabais Sa-De Vries Syndrome, Type 1	Optic nerve hypoplasia, Primary microcephaly	OMIM:618828
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ...	OMIM:620265
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Tracheobronchial leiomyomatosis, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Cough...	ORPHA:1018
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Motor neuron atrophy, Agitation, Neurodegeneration, Spasticity	ORPHA:803
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Benign Schwannoma	Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology	ORPHA:252164
Atypical Pantothenate Kinase-Associated Neurodegeneration	Retinopathy, Tongue atrophy, Optic atrophy, Dysphagia	ORPHA:216873
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements	OMIM:616939
Hartnup Disorder	Glossitis	OMIM:234500
Melioidosis	Pneumonia, Osteoarthritis, Acute infectious pneumonia, Abnormal parotid gland morphology, Septic ...	ORPHA:31202
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Optic nerve hypoplasia, Hypoplasia of the corpus callosum	OMIM:618381
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv...	OMIM:193235
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic disc pallor, Optic nerve hypoplasia, Abnormally large globe, Hypoplasia of the pons, Microc...	OMIM:300749
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Cerebellar atrophy, Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Hypoto...	ORPHA:488635
Hemiparkinsonism-Hemiatrophy Syndrome	Dystonia, Tremor, Lateral ventricle dilatation, Generalized hypotonia, Brain atrophy, Cerebral co...	ORPHA:306669
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Myoclonic-Atonic Epilepsy	Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Hypotonia,...	OMIM:616421
Feingold Syndrome Type 1	Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia	ORPHA:391641
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Cleft palate	OMIM:217150
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Obesity And Hypopigmentation	Red hair, Polyphagia	OMIM:620195
Vacterl With Hydrocephalus	Esophageal atresia, Tracheoesophageal fistula, Anal atresia	ORPHA:3412
Meckel Syndrome, Type 5	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:611561
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Rigidity, Cerebral atrophy, Dysphagia, Seizure, Secondary microcephaly, Neuro...	OMIM:617672
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Cerebellar atrophy, Corpus callosum atrophy, Hypotonia, Cerebral atrophy, Dysphagia, Choreoatheto...	OMIM:618088
Oculoskeletodental Syndrome	Abnormal thalamus morphology, Dysplastic corpus callosum, Focal white matter lesions	ORPHA:557003
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Tremor, Hypotonia, Limb dystonia, Thin corpus callosum	OMIM:620270
Feingold Syndrome Type 2	Jejunal atresia	ORPHA:391646
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris...	OMIM:309300
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Hypergonadotropic hypogonadism, Celiac disease, Iridocyclitis, Xerostomia, He...	ORPHA:227990
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi...	OMIM:613670
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Microcephaly, Hydrocephalus, Hypotonia, Cerebral atrophy, Choreoathetosis, Se...	OMIM:616034
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Oral mucosal blisters, Esophageal stricture, Dysphagia, Narro...	OMIM:226600
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo...	OMIM:618587
Spinal Muscular Atrophy, Type Iii	Degeneration of anterior horn cells, Hand tremor	OMIM:253400
Developmental And Epileptic Encephalopathy 31B	Appendicular spasticity, Multifocal seizures, Reduced cerebral white matter volume, Infantile spa...	OMIM:620352
Premature Ovarian Failure 11	Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea	OMIM:616946
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cerebellar hypoplasia, Microphthalmia, Secondary microcephaly, Optic disc pallor	OMIM:613730
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost...	ORPHA:353253
Aicardi-Goutieres Syndrome 2	Microcephaly, Basal ganglia calcification, Spastic paraplegia, Cerebral atrophy, Dystonia	OMIM:610181
Developmental And Epileptic Encephalopathy 91	Epileptic spasm, Bilateral tonic-clonic seizure, Reduced cerebral white matter volume, Tonic seiz...	OMIM:617711
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Progressive cerebell...	ORPHA:95433
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Aganglionic megacolon, Ataxia, Sensorineural hearing impairment, ...	OMIM:277580
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Rigidity, Inappropriate behavior, Disinhibition, Myoclonus, Dy...	OMIM:600795
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Celiac disease...	ORPHA:227982
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Microcephaly	OMIM:278780
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Generalized dystonia, Dysphagia, Microcephaly	OMIM:619025
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
Baker-Gordon Syndrome	Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, EEG abnormality, Dystonia, A...	OMIM:618218
Spastic Paraplegia 54, Autosomal Recessive	Optic nerve hypoplasia, Hypoplasia of the corpus callosum	OMIM:615033
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration, High palate, Plantar flexion contracture	OMIM:620011
Stickler Syndrome, Type Ii	Retinal detachment, High, narrow palate, Pierre-Robin sequence, Abnormal vitreous humor morpholog...	OMIM:604841
Kennedy Disease	Decreased fertility, Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction	ORPHA:481
Episodic Ataxia, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dystonia	OMIM:618924
Amyotrophic Lateral Sclerosis 11	Amyotrophic lateral sclerosis	OMIM:612577
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Colitis	OMIM:615190
Catel-Manzke Syndrome	Glossoptosis, Oral synechia, Cleft palate	ORPHA:1388
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with generalized onset, Ge...	ORPHA:2590
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Brunet-Wagner Neurodevelopmental Syndrome	Abnormal repetitive mannerisms, Self-injurious behavior, Low anterior hairline, Thin eyebrow	OMIM:619690
Dystonia 31	Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Dysphagia, Craniofacial dystonia	OMIM:619565
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Tremor, Hypotonia, Cerebral atrophy, Basal ganglia cysts, Choreoathetosis, Seizure,...	OMIM:312170
Landau-Kleffner Syndrome	Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seiz...	ORPHA:98818
Hartsfield Syndrome	Microphthalmia, Non-midline cleft lip, Cleft palate	ORPHA:2117
Intellectual Developmental Disorder, Autosomal Dominant 34	Curly hair, Broad-based gait, Synophrys, Coarse hair, Bruxism, Abnormal repetitive mannerisms, He...	OMIM:616351
Pseudohypoparathyroidism Type 1C	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:79444
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Dyspnea, Hem...	ORPHA:2759
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion...	ORPHA:1145
Usher Syndrome, Type Iiib	Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels	OMIM:614504
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Cerebellar atrophy, Dilated fourth ventricle, Substantia ...	ORPHA:276244
Ovarian Dysgenesis 8	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec...	OMIM:618187
Dyskeratosis Congenita, Autosomal Dominant 6	Esophageal stenosis, Oral leukoplakia, Abnormality of the dentition	OMIM:616553
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis	OMIM:619141
Premature Ovarian Failure 21	Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ...	OMIM:620311
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Buphtha...	OMIM:236670
Merrf	Optic atrophy, Cognitive impairment	ORPHA:551
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Dystonia, Aggressive behavior, Tremor, Rigidity, Cerebral atrophy, Seizure, I...	ORPHA:329284
Fanconi Anemia, Complementation Group I	Microphthalmia, Agenesis of corpus callosum, Optic nerve hypoplasia, Microcephaly	OMIM:609053
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Cataract, Optic atrophy, Dementia, Cognitive impairment, Sensory axonal neuropathy	ORPHA:329314
Rabin-Pappas Syndrome	Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hypoplasia of the pons, Micro...	OMIM:620155
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Fanconi Anemia, Complementation Group L	Esophageal atresia, Anal atresia, Tracheoesophageal fistula, Cleft palate	OMIM:614083
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Death in infancy, Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia,...	OMIM:243150
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard palate, Anosmia, Cleft...	ORPHA:2250
Isolated Splenogonadal Fusion	Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula...	ORPHA:457083
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Hypotonia, Seizure, Attention deficit hyperactivity disorder, Compulsive behaviors, Febrile seizu...	ORPHA:404440
49,Xxxyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l...	ORPHA:261534
Spinocerebellar Ataxia Type 2	Cerebral white matter atrophy, Abnormal substantia nigra morphology, Postural tremor, Abnormal co...	ORPHA:98756
Frontonasal Dysplasia 3	Microphthalmia, Cleft palate	OMIM:613456
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, High palate, Pneumonia	ORPHA:596
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Hypotonia...	OMIM:271980
46,Xy Sex Reversal 1	Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute...	OMIM:400044
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou...	ORPHA:39044
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Infantile axial hypotonia, Tremor, Scissor gait, Oromandibular dystonia, Cere...	ORPHA:521406
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Highly arched eyebrow, Aggressive behavior, Tremor, Sensorineural hearing impairme...	OMIM:618342
Pyridoxine-Dependent Epilepsy	Early onset absence seizures, Restlessness, Epileptic spasm, Focal-onset seizure, Focal myoclonic...	ORPHA:3006
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Partial agenesi...	ORPHA:79243
Episodic Kinesigenic Dyskinesia 1	Paroxysmal dystonia, Paroxysmal choreoathetosis, Seizure, Infantile spasms	OMIM:128200
Feingold Syndrome 1	Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, High pa...	OMIM:164280
Vacterl/Vater Association	Anorectal anomaly, Tracheoesophageal fistula, Cleft palate, Tracheal stenosis, Anal atresia	ORPHA:887
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Dystonia, Spastic tetraparesis, Spastic paraplegia, Se...	OMIM:612319
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Diarrhea, Chronic constipation, Inflammation of t...	OMIM:301074
Intellectual Developmental Disorder, Autosomal Recessive 44	Thin vermilion border, Bifid uvula, Long philtrum	OMIM:615942
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Optic atrophy, Bruxism, Dysphagia, Choreoathetosis, Bilateral sensorineural heari...	OMIM:619422
Precocious Puberty, Central, 1	Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l...	OMIM:176400
Developmental And Epileptic Encephalopathy 109	Hyperactivity, Axial hypotonia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic s...	OMIM:620145
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Uveitis, Retinal ...	OMIM:221900
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chronic pulmonary obstruction, Gastroesophageal reflux, Cough, Pulmonary ar...	ORPHA:2414
Chromosome 22Q11.2 Duplication Syndrome	Velopharyngeal insufficiency, High palate	OMIM:608363
Portal Hypertension, Noncirrhotic, 2	Esophageal varix, Epistaxis, Hepatocellular carcinoma	OMIM:619463
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Diarrhea, Chronic pulmonary obstruction, Pneumothorax, B...	ORPHA:411703
Juvenile Primary Lateral Sclerosis	Spastic tetraparesis, Spastic dysarthria, Dysphagia, Abnormal upper motor neuron morphology, Spas...	ORPHA:247604
Short Stature-Wormian Bones-Dextrocardia Syndrome	Cryptorchidism, Anterior hypopituitarism, Midshaft hypospadias	ORPHA:2863
Aicardi-Goutieres Syndrome 3	Cerebral calcification, Dystonia, Hypotonia, Abnormal cerebral white matter morphology, Generaliz...	OMIM:610329
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona...	OMIM:617087
Spastic Ataxia 1, Autosomal Dominant	Spastic paraplegia, Dysphagia, Dystonia	OMIM:108600
Atypical Rett Syndrome	Restrictive behavior, Generalized myoclonic seizure, Infantile spasms, Tremor, Tongue thrusting, ...	ORPHA:3095
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Aicardi-Goutieres Syndrome 4	Cerebellar atrophy, Ventriculomegaly, Cerebral calcification, Hydrocephalus, Cerebral atrophy, Se...	OMIM:610333
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Abnormal pinna morphology, Ataxia, Gait disturbance, Inappropriate laughter, Thick...	OMIM:614104
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
Pontocerebellar Hypoplasia, Type 2B	Cerebellar atrophy, Ventriculomegaly, Axial hypotonia, Microcephaly, Tonic seizure, Simplified gy...	OMIM:612389
Verheij Syndrome	Optic nerve hypoplasia, Cerebral atrophy, Microcephaly	OMIM:615583
Retinitis Pigmentosa 26	Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:608380
Leukodystrophy, Hypomyelinating, 18	Cerebellar atrophy, Dystonia, Spastic tetraplegia, Spasticity, Seizure, Secondary microcephaly, P...	OMIM:618404
Birk-Barel Syndrome	Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula	OMIM:612292
Thyroid Lymphoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia	ORPHA:97285
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Retinal detachment, Intestinal malrotation, Abnormality of the dentiti...	ORPHA:2712
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Bifid uvula	ORPHA:2669
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Osteomyelitis, Duodenal ulcer, Pneumonia, Skin rash, Recurrent skin infections, ...	OMIM:619381
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Kyphosi...	OMIM:211530
Czeizel-Losonci Syndrome	High palate, Tracheoesophageal fistula	ORPHA:2437
Seckel Syndrome 2	Microdontia, Microphthalmia, Microglossia	OMIM:606744
Hypertriglyceridemia 1	Hypopituitarism	OMIM:145750
Aniridia 1	Hypoplasia of the fovea, Optic nerve hypoplasia, Hypoplasia of the iris, Chorioretinal hypopigmen...	OMIM:106210
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria	OMIM:619649
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Neonatal respiratory distress, Intestinal malrotation, Esophageal atresia, Tracheoesophageal fist...	OMIM:265380
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Epileptic spasm, Axial hypotonia, Microcephaly, Simplified gyral pattern...	OMIM:617669
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Kyphoscoliosis	OMIM:619099
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D...	ORPHA:275864
Episodic Ataxia Type 4	Abnormal head movements, Vertigo, Ataxia	ORPHA:79136
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Dysphagia, Seizure, Generalized hypotonia, Limb ...	ORPHA:71517
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy	OMIM:616389
Dravet Syndrome	Photosensitive tonic-clonic seizure, Status epilepticus without prominent motor symptoms, Action ...	ORPHA:33069
Polyembryoma	Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the...	ORPHA:180229
Striatonigral Degeneration, Childhood-Onset	Dystonia, Hypotonia, Hypertonia, Dysphagia, Craniofacial dystonia	OMIM:617054
Smith-Magenis Syndrome	Hyperactivity, Impaired pain sensation, Synophrys, Abnormality of the outer ear, Self hugging, He...	OMIM:182290
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Thin upper lip vermilion, Long philtrum	OMIM:614741
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Microcephaly, Paucity of anterior horn motor neurons, Cer...	OMIM:611890
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ...	ORPHA:263665
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor	OMIM:615163
Apert Syndrome	Anomalous tracheal cartilage, Pyloric stenosis, Esophageal atresia, Narrow palate, Cleft palate, ...	OMIM:101200
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Glossitis, High palate, Tracheoesophageal fistula, Stomatitis	OMIM:277380
4Q21 Microdeletion Syndrome	Tremor, Synophrys, Self-injurious behavior, Long eyelashes, Low-set ears, Abnormal repetitive man...	ORPHA:238750
Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul...	OMIM:300068
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Pyloric stenosis, Enamel hypoplasia, Death in infancy	OMIM:226700
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Hypointensity of cerebral white matter on MRI, Dystonia	OMIM:619196
Temtamy Syndrome	Microphthalmia, Thick lower lip vermilion, Abnormal palate morphology, Chorioretinal coloboma	ORPHA:1777
Thakker-Donnai Syndrome	Rectovaginal fistula, Tracheoesophageal fistula, Anal atresia	ORPHA:1780
Culler-Jones Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Hypogonad...	OMIM:615849
Neurofibroma	Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Kyphosc...	ORPHA:252183
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te...	ORPHA:67045
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Syndromic Recessive X-Linked Ichthyosis	Hypogonadism, Cryptorchidism, Testicular seminoma, Abnormal stomach morphology	ORPHA:281090
Leukoencephalopathy With Calcifications And Cysts	Intracerebral periventricular calcifications, Cerebral calcification, Tremor, Basal ganglia calci...	ORPHA:542310
Pituitary Gigantism	Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati...	ORPHA:99725
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Restlessness, Microcephaly, Tonic seizure, Focal-onset seizure, Partial agenesis of the corpus ca...	OMIM:619517
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Cerebellar atrophy, Neuronal loss in basal ganglia, ...	ORPHA:506
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri...	OMIM:614129
Epilepsy, Idiopathic Generalized, Susceptibility To, 16	Microcephaly, Myoclonic seizure, Abnormal cerebral white matter morphology, Atypical absence seiz...	OMIM:618596
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia	OMIM:201400
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Esophageal varix	OMIM:617341
Kearns-Sayre Syndrome	Anterior hypopituitarism	ORPHA:480
Cardiofaciocutaneous Syndrome 4	Cerebellar hypoplasia, Optic nerve hypoplasia	OMIM:615280
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Glossoptosis, Cleft palate, Long philtrum	ORPHA:166100
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Neuromuscular dysphagia	ORPHA:240085
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Axial hypotonia, Microcephaly, Tremor, Aggressive behavior, Choreoathetosis, Seizu...	OMIM:612716
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Generalized-onset seizure, Increased neuronal autofluorescent lipopigment, Tr...	ORPHA:79263
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Epileptic spasm, Axial hypotonia, Dystonia, Partial agenesis of the corpus callosum, Dysphagia, S...	ORPHA:500144
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Sarcoidosis, Susceptibility To, 1	Dyspnea, Emphysema, Enlarged lacrimal glands, Bronchiectasis, Hypoxemia, Arthritis, Inflammation ...	OMIM:181000
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Cerebral cortical atrophy, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly	OMIM:617864
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone...	ORPHA:85327
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Squalene Synthase Deficiency	Optic nerve hypoplasia, Hypoplasia of the corpus callosum	OMIM:618156
Spinal Muscular Atrophy, X-Linked 2	Degeneration of anterior horn cells, Severe muscular hypotonia, Hypotonia	OMIM:301830
Satb2-Associated Syndrome Due To A Pathogenic Variant	Thin upper lip vermilion, Abnormality of the dentition, Celiac disease, Cleft palate, Dysphagia, ...	ORPHA:576283
Dystonia 15, Myoclonic	Myoclonus, Writer's cramp, Dystonia	OMIM:607488
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Acute Disseminated Encephalomyelitis	Hypointensity of cerebral white matter on MRI, Aggressive behavior, Diffuse white matter abnormal...	ORPHA:83597
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Partial agenesis of the corpus callosum, Spastic paraplegia, Spastic tetraplegia, S...	OMIM:245349
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Axial hypotonia, Microcephaly, Choreoathetosis, Dystonia, Spasticity, Thin corpus callosum	OMIM:614249
Distal Deletion 10Q	Ataxia, Aggressive behavior, Hypoplastic toenails, Congenital sensorineural hearing impairment, W...	ORPHA:96148
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th...	OMIM:616113
Primary Lateral Sclerosis, Juvenile	Appendicular spasticity, Spastic tetraparesis, Spastic gait, Spastic dysarthria, Pseudobulbar par...	OMIM:606353
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypotonia, Generalized non-motor (abse...	OMIM:615637
Carey-Fineman-Ziter Syndrome 2	Thin upper lip vermilion, Dental crowding, High, narrow palate, Velopharyngeal insufficiency, Dow...	OMIM:619941
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Microcephaly, Optic atrophy, Cerebral atrophy, Cerebellar hypoplasi...	OMIM:600118
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Retina...	OMIM:243605
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Ataxia, Synophry...	ORPHA:2884
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Abnormal eating behavior, Anteverted ears, Tremor, Obsessive-compulsive trait, Gait distu...	ORPHA:544254
Fryns Syndrome	Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cleft palate, Stillbirth, Chyl...	OMIM:229850
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis	OMIM:615426
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cleft lip, Cleft palate	OMIM:612370
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Huntington Disease-Like 2	Caudate atrophy, Abnormal cerebral morphology, Dystonia, Cerebral cortical atrophy, Abnormal corp...	ORPHA:98934
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Microcephaly, H...	OMIM:300558
Lennox-Gastaut Syndrome	Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Myoclonu...	ORPHA:2382
Pituitary Adenoma 2, Growth Hormone-Secreting	Pituitary adenoma, Elevated circulating growth hormone concentration	OMIM:300943
Blepharonasofacial Malformation Syndrome	Torsion dystonia	OMIM:110050
Dyschromatosis Symmetrica Hereditaria	Torsion dystonia	ORPHA:41
Developmental And Epileptic Encephalopathy 17	Focal tonic seizure, Cerebral atrophy, Athetosis, Hypoplasia of the corpus callosum, Dystonia, Ge...	OMIM:615473
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye...	OMIM:618357
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Diffuse cerebral atrophy, Axial hypotonia, Severe temper tantrums, Multifocal...	OMIM:617710
Manitoba Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	OMIM:248450
Nance-Horan Syndrome	Retinal detachment, Microphthalmia, Supernumerary tooth, Abnormality of the dentition	ORPHA:627
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Seizure, Lissence...	ORPHA:2185
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myoclonic seizur...	OMIM:617831
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Axial hypotonia, Bilateral tonic-clonic seizure, Tremor, Dystonia	OMIM:618425
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	OMIM:300845
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy, Dysphagia	ORPHA:496689
Poirier-Bienvenu Neurodevelopmental Syndrome	Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue	OMIM:618732
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Bilateral Frontoparietal Polymicrogyria	Bilateral tonic-clonic seizure with generalized onset, Cerebral dysmyelination, Microcephaly, Cor...	ORPHA:101070
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci...	OMIM:300942
Microcephalic Primordial Dwarfism, Montreal Type	Open bite, Cryptorchidism, Carious teeth, Kyphosis, Congenital pyloric atresia, Vertebral segment...	ORPHA:2617
Leukoencephalopathy With Vanishing White Matter 5	Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,...	OMIM:620315
Mucolipidosis Iv	Cerebellar atrophy, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Spastic te...	OMIM:252650
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Wolman Disease	Esophageal varix, Steatorrhea	ORPHA:75233
Osteopetrosis, Autosomal Recessive 8	Facial palsy, Optic atrophy, Unilateral microphthalmos	OMIM:615085
Arthrogryposis, Distal, Type 1C	Pursed lips, Cleft lip, Cleft palate, Thin vermilion border, High palate, Narrow mouth, Bifid uvula	OMIM:619110
Robin Sequence With Cleft Mandible And Limb Anomalies	Agenesis of mandibular central incisor, Hip subluxation, Pierre-Robin sequence, 4-5 metacarpal sy...	OMIM:268305
Autosomal Recessive Spastic Paraplegia Type 66	Lower limb spasticity, Limb hypertonia, Colpocephaly, Hypoplasia of the corpus callosum, Spastic ...	ORPHA:401815
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Hypotonia, Focal T2 hypointense basal ganglia lesion, Seizure, Myoclo...	ORPHA:139485
Microphthalmia With Limb Anomalies	Anophthalmia, Cleft upper lip, Deep philtrum, Cleft palate, High palate, Microphthalmia	OMIM:206920
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Corpus callosum atrophy, Aggressive behavior, Simplified gyral pattern, Cerebral at...	OMIM:619244
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Duodenal atresia, Intestinal atresia	ORPHA:3405
Xq28 (MECP2) duplication	Inability to walk, Gait ataxia, Dysphagia, Macrotia, Abnormal repetitive mannerisms	DECIPHER:45
Ovarian Dysgenesis 3	Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ...	OMIM:614324
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism...	OMIM:300476
Van Esch-O'Driscoll Syndrome	Esophageal atresia, Tracheoesophageal fistula, Bifid uvula	OMIM:301030
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Brain atrophy, Ubiquitin-positiv...	ORPHA:52430
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro...	OMIM:618841
Maternal Phenylketonuria	Esophageal atresia, High palate	ORPHA:2209
3-Methylglutaconic Aciduria, Type I	Spastic tetraplegia, Leukoencephalopathy, Cerebral atrophy, Abnormal cerebral white matter morpho...	OMIM:250950
Acro-Renal-Mandibular Syndrome	Tracheoesophageal fistula, High palate, Aplasia/Hypoplasia of the tongue	ORPHA:958
Tatton-Brown-Rahman Syndrome	Optic nerve hypoplasia	OMIM:615879
Multiple Mitochondrial Dysfunctions Syndrome 6	Cerebellar atrophy, Dystonia, Hypotonia, Leukoencephalopathy, Seizure, Secondary microcephaly, At...	OMIM:617954
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Abnormal pituitary gland morphology, Euthyroid goiter, Dysphagia, Nodular go...	ORPHA:64744
Pseudohypoparathyroidism Type 1A	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:79443
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Thin upper lip vermilion, Retinal detachment, Chorioretinal dysplasia, Chorioretinal lacunae, Dee...	OMIM:152950
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Focal T2 hyperintense thalamic lesion, Agitation, Generalized hypotonia, Status epilepticus	OMIM:619046
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Torsion Dystonia With Onset In Infancy	Torsion dystonia	OMIM:602554
Infantile Convulsions And Choreoathetosis	Focal-onset seizure, Choreoathetosis, Athetosis, Seizure, Complex febrile seizure, Focal impaired...	ORPHA:31709
Dystonia 35, Childhood-Onset	Dystonia	OMIM:619921
Primary Dystonia, Dyt4 Type	Respiratory distress, Kyphoscoliosis, Dysphagia, Movement abnormality of the tongue, Open mouth	ORPHA:98805
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Cryptorch...	OMIM:614732
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Peritonitis, Esophageal varix...	ORPHA:131
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Encephalopathy Due To Prosaposin Deficiency	Myoclonus, Bilateral tonic-clonic seizure, Hypotonia, Dystonia	ORPHA:139406
Mehmo Syndrome	Male hypogonadism, Micropenis, Decreased response to growth hormone stimulation test, Delayed pub...	OMIM:300148
Pierpont Syndrome	Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Widely spaced teeth, Everted lo...	ORPHA:487825
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Tremor, Rigidity, Inappropriate behavior, Myoclonus, Dystonia	ORPHA:401901
Spastic Paraplegia 87, Autosomal Recessive	Lower limb spasticity, Upper limb spasticity, Spastic gait, Dystonia	OMIM:619966
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Fragile X Syndrome	Abnormal head movements, Hyperactivity, Macrotia, Self-biting, Recurrent hand flapping	OMIM:300624
Epilepsy, Progressive Myoclonic, 9	Microglossia	OMIM:616540
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Optic nerve hypoplasia	ORPHA:363686
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Kaya-Barakat-Masson Syndrome	Cerebellar atrophy, Limb dystonia, Axial hypotonia, Microcephaly, Spastic tetraplegia, Cerebral a...	OMIM:619125
Radio-Tartaglia Syndrome	Tremor, Synophrys, Low anterior hairline, Conductive hearing impairment, Abnormal repetitive mann...	OMIM:619312
Restrictive Dermopathy 2	Respiratory distress, Rectal prolapse, Gastroesophageal reflux	OMIM:619793
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Pallidal degeneration, Dystonia, Severe muscular hypotonia, T2 hypoi...	ORPHA:25
Fanconi Anemia, Complementation Group G	Microphthalmia, Microcephaly	OMIM:614082
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Impulsivity, Hypotonia, Seizure, Lateral ventricle dilatation, Pontocerebe...	OMIM:617854
Familial Infantile Bilateral Striatal Necrosis	Dystonia, Spastic tetraparesis, Rigidity, Spasticity, Cogwheel rigidity, Basal ganglia cysts, Cho...	ORPHA:225154
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Optic atrophy, Cognitive impairment	ORPHA:1171
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty	OMIM:612079
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Thin upper lip vermilion, Craniosynostosis, Bilateral cryptorchidism, Pyloric stenosis, High palate	ORPHA:314575
Mitochondrial Complex I Deficiency, Nuclear Type 17	Generalized dystonia, Rigidity, Hypotonia, Focal motor seizure, Basal ganglia necrosis, Seizure, ...	OMIM:618239
Chromosome 2Q37 Deletion Syndrome	Pain insensitivity, Hyperactivity, Highly arched eyebrow, Aggressive behavior, Sensorineural hear...	OMIM:600430
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Hypotonia, Abnormal cerebral white matter morphology, Lateral ventricle...	OMIM:613443
Developmental And Epileptic Encephalopathy 94	Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a...	OMIM:615369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hypoplasia of the brai...	OMIM:613153
D-Glyceric Aciduria	Cerebral cortical atrophy, Optic nerve hypoplasia, Microcephaly	OMIM:220120
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Succinic Acidemia	Respiratory distress	OMIM:600335
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Axial hypotonia, Myoclonus, Dystonia	OMIM:619647
Developmental And Epileptic Encephalopathy 24	Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen...	OMIM:615871
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Median cleft lip, High palate, Bifid uvula	OMIM:155145
Lissencephaly Due To Lis1 Mutation	Opisthotonus, Cavum septum pellucidum, Pachygyria, Thick cerebral cortex, Focal motor seizure, Se...	ORPHA:95232
Developmental And Epileptic Encephalopathy 92	Seizure, Secondary microcephaly, Myoclonus, Dystonia, Spasticity	OMIM:617829
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis, Dysphagia	OMIM:118800
Paroxysmal Kinesigenic Dyskinesia	Writer's cramp, Athetosis, Seizure, Dystonia, Focal sensory seizure	ORPHA:98809
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Clonic seizure, Opisthotonus, Choreoathetosis, Myoclonic seizure, Generalized hypotonia, Abnormal...	OMIM:619580
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Degeneration of anterior horn cells, Axonal degeneration, Hand tremor	OMIM:604484
Alternating Hemiplegia Of Childhood 2	Choreoathetosis, Seizure, Status epilepticus, Dystonia	OMIM:614820
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bilateral tonic-clonic seizure, Tremor, Rigidity, Generalized hypotonia, Dystonia, Generalized my...	OMIM:617836
Trisomy 18	Esophageal atresia, Narrow palate, Anal atresia, Cleft palate	ORPHA:3380
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Broad-based gait, Hypopigmentation of hair, Ataxia, Hyperactivity, Polyphagia, EEG abnormality, I...	ORPHA:411515
Combined Oxidative Phosphorylation Defect Type 23	Abnormal basal ganglia MRI signal intensity, Seizure, Abnormal thalamic MRI signal intensity, Inf...	ORPHA:444013
Temple Syndrome	Precocious puberty, Cryptorchidism, Type II diabetes mellitus, Decreased response to growth hormo...	ORPHA:254516
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Highly arched eyebrow, Repetitive compulsive behavior, Low-set ears, Compulsive be...	ORPHA:352490
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Edema, Hematemesis, Pericardial effusion, D...	OMIM:615846
Noonan Syndrome 7	Thick vermilion border, Scoliosis, Dysphagia, Impaired oropharyngeal swallow response, Cubitus va...	OMIM:613706
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Dysphagia	OMIM:615911
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus...	OMIM:206900
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa...	ORPHA:2232
Dentici-Novelli Neurodevelopmental Syndrome	Inability to walk, Hypsarrhythmia, Macrotia, Abnormal repetitive mannerisms, Hearing impairment	OMIM:619877
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, High...	OMIM:300219
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Nelson Syndrome	Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre...	ORPHA:199244
Juvenile Myoclonic Epilepsy	Generalized-onset seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, Generalized ...	ORPHA:307
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit...	ORPHA:91350
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Microcephaly, Hypoplasia of the corpus callosum, Microphthalmia, Agenesis of c...	OMIM:300887
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Optic atrophy	ORPHA:2773
Rhizomelic Chondrodysplasia Punctata, Type 2	Optic nerve hypoplasia, Microcephaly	OMIM:222765
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness, Dysphagia	OMIM:613561
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A...	OMIM:301056
Myotonic Dystrophy 2	Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,...	OMIM:602668
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia, Duodenal stenosis	ORPHA:2470
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon...	ORPHA:478
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Azoospermi...	ORPHA:280679
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Generalized hypotonia, D...	OMIM:618237
X-Linked Intellectual Disability, Cantagrel Type	Seizure, Hypoplasia of the corpus callosum, Neonatal hypotonia, Abnormal repetitive mannerisms, C...	ORPHA:85277
Congenital Toxoplasmosis	Microphthalmia, Abnormality of retinal pigmentation, Microcephaly	ORPHA:858
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Hydranencephaly	Dysgenesis of the thalamus, Ventriculomegaly, Thalamic edema, Spastic diplegia, Opisthotonus, Sei...	ORPHA:2177
Orofaciodigital Syndrome Xix	Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m...	OMIM:620107
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno...	OMIM:131100
Hereditary Methemoglobinemia	Cerebellar atrophy, Microcephaly, Temporal cortical atrophy, Spastic tetraplegia, Spasticity, Ath...	ORPHA:621
Mucopolysaccharidosis, Type Ix	Submucous cleft hard palate, Bifid uvula	OMIM:601492
Oxoglutarate Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Rigidity, Hypotonia, Dystonia, Ventriculomegaly	OMIM:203740
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Median cleft lip, Accessory oral frenulum, Supernumerary tooth, Aplasia of ...	OMIM:617088
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Immunodeficiency 12	Esophageal stricture, Bronchiectasis, Recurrent aphthous stomatitis, Death in adolescence	OMIM:615468
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Abnormal caudate nucleus morphology,...	ORPHA:314632
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Abnormal basal ganglia morphology, Cerebral atrophy, Abnormal cere...	ORPHA:1320
Branchiootorenal Syndrome 1	Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch...	OMIM:113650
Mepan Syndrome	Cerebellar atrophy, Axial dystonia, Dystonia, Hemidystonia, Hypotonia, Cerebral atrophy, Dysphagi...	ORPHA:508093
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Cognitive impairment, Ectopia lentis	ORPHA:1885
Mycophenolate Mofetil Embryopathy	Tracheomalacia, Tracheoesophageal fistula	ORPHA:268249
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Auriculocondylar Syndrome 3	Glossoptosis, Bifid uvula	OMIM:615706
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Optic atrophy, Gait ataxia, Prominent antihelix, Difficulty walking, Dystonia, ...	OMIM:617807
Parkinsonism-Dystonia 1, Infantile-Onset	Axial hypotonia, Dystonia, Oculogyric crisis, Tremor, Rigidity, Cogwheel rigidity, Hypertonia, Li...	OMIM:613135
Fanconi Anemia, Complementation Group D2	Esophageal atresia, Tracheoesophageal fistula	OMIM:227646
Chromosome 2P16.1-P15 Deletion Syndrome	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Cerebral atrophy, Hypoplasia of the...	OMIM:612513
Combined Oxidative Phosphorylation Defect Type 7	Oral-pharyngeal dysphagia, Abnormal thalamic MRI signal intensity, Abnormal cerebral white matter...	ORPHA:254930
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Lower limb spasticity, Cerebral white matter atrophy, Axial hypotonia, Bilateral tonic-clonic sei...	ORPHA:464282
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Bilateral tonic-clonic seizure, Microcephaly, Hypotonia, Myoclonic seizure, Seizure, Lateral vent...	OMIM:615716
Primary Dystonia, Dyt21 Type	Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst...	ORPHA:306734
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Hip contracture, Ankle flexion contracture, Respiratory insufficiency due t...	ORPHA:1143
Odontochondrodysplasia	Delayed eruption of teeth, Respiratory distress, Death in infancy, Platyspondyly, Scoliosis, Dent...	ORPHA:166272
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Bilateral tonic-clonic seizure, Microcephaly, Hypotonia, Generalized non-motor (absence) seizure,...	OMIM:616281
Intrinsic Factor Deficiency	Absence of intrinsic factor	OMIM:261000
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Opitz Gbbb Syndrome	Tracheoesophageal fistula, Cleft palate, Stridor, Ectopic anus, High palate, Dysphagia, Tracheoma...	ORPHA:2745
Frasier Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu...	ORPHA:347
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
4H Leukodystrophy	Cerebellar atrophy, Decreased response to growth hormone stimulation test, Tremor, Dysphagia, Str...	ORPHA:289494
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,...	ORPHA:91347
Auriculocondylar Syndrome	Respiratory distress, Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental ma...	ORPHA:137888
X-Linked Hypohidrotic Ectodermal Dysplasia	Type I diabetes mellitus, Anterior hypopituitarism, Hypohidrosis	ORPHA:181
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac...	ORPHA:264675
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Aggressive behavior, Tremor, Rigidity, Cerebral atrophy, Seizure, N...	OMIM:300894
Odontochondrodysplasia 1	Delayed eruption of teeth, Respiratory distress, Biconvex vertebral bodies, Death in infancy, Gen...	OMIM:184260
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Distal Deletion 12Q	High, narrow palate, Esophageal atresia, Pyloric stenosis, Bronchodysplasia, Microglossia, Duoden...	ORPHA:96149
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Tongue edema, Upper airway obstruction, Swollen lip	ORPHA:100057
Huntington Disease	Caudate atrophy, Oral-pharyngeal dysphagia, Rigidity, Aggressive behavior, Cerebral atrophy, Abno...	ORPHA:399
Parkinson Disease 2, Autosomal Recessive Juvenile	Substantia nigra gliosis, Tremor, Rigidity, Cerebral atrophy, Dystonia	OMIM:600116
Dentatorubral-Pallidoluysian Atrophy	Choreoathetosis, Seizure, Myoclonus, Dystonia	OMIM:125370
Septopreoptic Holoprosencephaly	Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus	ORPHA:280195
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Lower limb spasticity, Microcephaly, Clonic seizure, Hypotonia, Seizure, Dystonia, Spasticity, Gl...	OMIM:614458
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Abnormal vitreous humor morphology, Exudative retinopathy, Exudative vitreore...	ORPHA:2788
Striatonigral Degeneration, Infantile	Choreoathetosis, Spasticity, Dysphagia, Dystonia	OMIM:271930
Optic Atrophy 6	Optic atrophy	OMIM:258500
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Adams-Oliver Syndrome 6	Esophageal varix	OMIM:616589
Segawa Syndrome, Autosomal Recessive	Axial hypotonia, Tremor, Rigidity, Myoclonus, Limb dystonia	OMIM:605407
Alternating Hemiplegia Of Childhood 1	Choreoathetosis, Bilateral tonic-clonic seizure, Dystonia	OMIM:104290
3-Methylglutaconic Aciduria, Type Iii	Optic atrophy, Cognitive impairment	OMIM:258501
46,Xx Gonadal Dysgenesis	Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease...	ORPHA:243
Trisomy 1Q	Anal atresia, Anophthalmia, Cleft palate, Narrow mouth	ORPHA:261344
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo...	OMIM:604403
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula	OMIM:619239
Pierpont Syndrome	Smooth philtrum, Prominent median palatal raphe, Thin vermilion border, Widely spaced teeth, Ever...	OMIM:602342
Pontocerebellar Hypoplasia, Type 1B	Tongue atrophy, Retinal dystrophy, Tongue fasciculations	OMIM:614678
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Hypotonia, Generalized non-motor (abs...	OMIM:617810
Spinal Muscular Atrophy, Type Iv	Degeneration of anterior horn cells, Hand tremor	OMIM:271150
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Axial hypotonia, Generalized dystonia, Spastic tetraparesis, Partial agenesis of the corpus callo...	OMIM:619653
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia, Narrow palate, Cleft palate, Downturned corners of mouth, H...	OMIM:605627
Rhyns Syndrome	Hypopituitarism	ORPHA:140976
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Dystonia 28	Torticollis, Generalized dystonia, Microcephaly, Globus pallidus hypointensity on susceptibility-...	ORPHA:589618
Ethylene Glycol Poisoning	Gastritis, Vomiting, Nausea, Cerebral edema, Pulmonary edema	ORPHA:31826
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Mitochondrial Complex I Deficiency, Nuclear Type 5	Cerebellar atrophy, Axial hypotonia, Dystonia, Microcephaly, Hypotonia, Leukoencephalopathy, Dysp...	OMIM:618226
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Hypoplasia of penis, Adrenal hypoplasia, Cryptorchidism, Hypothyroid...	ORPHA:95496
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy	Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized...	OMIM:609446
Cockayne Syndrome Type 2	Anophthalmia, Delayed eruption of primary teeth, Widely spaced primary teeth, Hypoplasia of the p...	ORPHA:90322
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Aggressive behavior, Tremor, Synophrys, Low anterior hairline, Hirsutism, Sel...	OMIM:617061
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, Retinal pigment epithelial mottling, High palate, Short philtrum, Lon...	OMIM:614105
Asparagine Synthetase Deficiency	Caudate atrophy, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hypoplasia o...	OMIM:615574
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy, Dystonia, Head titubation, Cerebral atrophy, Seizure, Generalized hypotonia, ...	ORPHA:527497
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, High, narrow palate, Dyspnea, Wide mouth, Abnormal upper lip morphology, Ab...	ORPHA:2707
Autoimmune Lymphoproliferative Syndrome	Premature ovarian insufficiency, Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, ...	ORPHA:3261
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Spinocerebellar Ataxia 17	Cerebellar atrophy, Diffuse cerebral atrophy, Aggressive behavior, Rigidity, Dysphagia, Seizure, ...	OMIM:607136
Cronkhite-Canada Syndrome	Intestinal polyposis, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous polyposis, Colon ...	ORPHA:2930
Classic Glucose Transporter Type 1 Deficiency Syndrome	Choreoathetosis, Seizure, Hypertonia, Status epilepticus, Myoclonus, Dystonia, Spasticity, Progre...	ORPHA:71277
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Limb dystonia, Microcephaly, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Hypotonia, Dysp...	OMIM:619847
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Severe temper tantrums, Hemidystonia, Spastic tetraparesis, Focal T2 hyperintense basal ganglia l...	OMIM:619052
Kapur-Toriello Syndrome	Microphthalmia, Retinal coloboma, Intestinal malrotation, Orofacial cleft	ORPHA:2328
Rhyns Syndrome	Anterior hypopituitarism, Reduced circulating growth hormone concentration, Decreased response to...	OMIM:602152
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, High, narrow palate, Abnormal vitreous humor morphology, Abnormal optic nerve morph...	ORPHA:1101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microcephaly, Hypoplasia of the brainstem, Progressive microcephaly, Cere...	OMIM:615249
Epilepsy, Progressive Myoclonic, 6	Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myoclonus, Myocl...	OMIM:614018
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Reti...	ORPHA:50815
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Cerebral atrophy, Progressive spast...	ORPHA:309246
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ...	OMIM:615300
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
19P13.13 Microdeletion Syndrome	Corpus callosum atrophy, Hypoplasia of the frontal lobes, Optic atrophy, Optic nerve hypoplasia	ORPHA:357001
Leber Hereditary Optic Neuropathy	Retinal vascular tortuosity, Optic atrophy, Retinal telangiectasia	ORPHA:104
Partington Syndrome	Lower limb spasticity, Infantile spasms, Focal dystonia, Seizure, Limb dystonia	OMIM:309510
Shukla-Vernon Syndrome	Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Sparse hair, Abnormal...	OMIM:301029
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,...	OMIM:607682
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le...	ORPHA:90791
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Sulfite Oxidase Deficiency, Isolated	Axial hypotonia, Generalized dystonia, Bilateral tonic-clonic seizure, Microcephaly, Cerebral atr...	OMIM:272300
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Cerebral calcification, Axial hypotonia, Exaggerated startle response, Hyperact...	OMIM:617281
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Cerebral calcification, Generalized-onset seizure, Myoclonic seizure, Hypertonia, Neonatal death,...	OMIM:620024
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia	OMIM:614583
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Papilledema, Retinal arteriolar constriction	OMIM:124950
Peroxisomal Acyl-Coa Oxidase Deficiency	Dystonia, Hypotonia, Seizure, Hypertonia, Dysphagia, Neonatal hypotonia	OMIM:264470
Leukodystrophy, Hypomyelinating, 2	Axial hypotonia, Dystonia, Rigidity, Head titubation, Cerebral atrophy, Choreoathetosis, Seizure,...	OMIM:608804
Whistling Face Syndrome, Recessive Form	Whistling appearance, Narrow mouth, High palate, Long philtrum, Microglossia	OMIM:277720
Leukodystrophy, Hypomyelinating, 20	Cerebellar atrophy, Torticollis, Spastic tetraplegia, Hypertonia, Hypoplasia of the corpus callos...	OMIM:619071
Noonan Syndrome	Abnormal hair quantity, Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Sen...	ORPHA:648
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, General...	ORPHA:86909
Lipoid Proteinosis	Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala...	ORPHA:530
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Dilated fourth ventricle, Torticollis, Hypotonia, Choreoathetosis, Limb dystonia, Cerebellar verm...	OMIM:619054
Boomerang Dysplasia	Cryptorchidism, Decreased response to growth hormone stimulation test	ORPHA:1263
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia	OMIM:618160
Igg4-Related Dacryoadenitis And Sialadenitis	Xerostomia, Enlarged lacrimal glands, Enlargement of parotid gland, Nodular goiter, Abnormal sali...	ORPHA:79078
Aceruloplasminemia	Torticollis, Abnormal corpus striatum morphology, Tremor, Rigidity, Abnormal thalamic MRI signal ...	ORPHA:48818
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Highly arched eyebrow, Synophrys, Paroxysmal bursts of laughter, Polyphagi...	ORPHA:228402
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Autosomal Recessive Spastic Paraplegia Type 53	Microcephaly, Cortical dysplasia, Upper limb hypertonia, Limb dystonia, Ventriculomegaly	ORPHA:319199
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	EEG with parietal epileptiform discharges, Ataxia, Synophrys, Fine hair, Hypsarrhythmia, Head tre...	OMIM:619428
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde...	OMIM:617412
Developmental And Epileptic Encephalopathy 110	Pain insensitivity, Chorea, Low-set ears, Bruxism, Continuous spike and waves during slow sleep, ...	OMIM:620149
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Axial hypotonia, Multifocal seizures, Microcephaly, Choreoathetosis, Abnormal cerebral white matt...	OMIM:615905
Coffin-Siris Syndrome 7	Sparse scalp hair, Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears,...	OMIM:618027
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Dystonia, Atrophy/Degeneration affecting the brainstem, Hypotonia, Generalized hypotonia, Brain a...	OMIM:616277
Solar Urticaria	Dyspnea, Abnormal lip morphology, Abnormal tongue morphology, Wheezing	ORPHA:97230
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Pyloric stenosis, Asthma	OMIM:614262
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia	ORPHA:3201
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Severe temper tantrums, Bilateral tonic-clonic seizure, Hypotonia, Generalized non-motor (absence...	OMIM:619854
Hereditary Angioedema Type 1	Respiratory distress, Intestinal edema, Abnormal soft palate morphology, Dyspnea, Diarrhea, Vomit...	ORPHA:100050
Martsolf Syndrome 2	Microcephaly, Spastic diplegia, Lateral ventricle dilatation, Brain atrophy, Hypoplasia of the co...	OMIM:619420
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Prominent metopic ridge, Tented upper lip vermilion, Apnea...	ORPHA:314655
Agnathia-Otocephaly Complex	Respiratory distress, Aglossia, Cleft palate, Narrow mouth, Tracheomalacia, Microglossia	OMIM:202650
Bartsocas-Papas Syndrome 2	Microphthalmia, Accessory oral frenulum, Bilateral cleft lip and palate	OMIM:619339
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Cleft palate, Downturned corners of mouth, High palate, Long philtrum, Microp...	ORPHA:163649
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Infantile axial hypotonia, Spastic tetraparesis, Simplified gyral pattern, Seizu...	ORPHA:284417
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ...	OMIM:250790
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st...	OMIM:245590
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Choreoathetosis, Seizure, Secondary microcephaly, Myoclonus, Spasticity	OMIM:606777
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Cerulean cataract	OMIM:616732
Zimmermann-Laband Syndrome 3	Thick lower lip vermilion, High palate, Bifid uvula, Gingival overgrowth	OMIM:618658
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Sex reversal, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:613743
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Axial hypotonia, Microcephaly, Tremor, Rigidity, Hypotonia, Choreoathetosis, ...	OMIM:612438
Houge-Janssens Syndrome 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Microcephaly, Fo...	OMIM:618354
Alg3-Cdg	Cerebral white matter atrophy, Dystonia, Spastic tetraparesis, Microcephaly, Hypotonia, Neural tu...	ORPHA:79321
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ...	ORPHA:884
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Infantile-Onset Spinocerebellar Ataxia	Abnormality of the autonomic nervous system, Optic atrophy	ORPHA:1186
Ritscher-Schinzel Syndrome 4	Curly hair, Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Macrotia, Abn...	OMIM:619435
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of the skin, Hypopigmentation of hair, Polyphagia, Iris hypopigmentation	ORPHA:177910
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Aggressive behavior, Synophrys, Macrotia, Abnormal repetitive mannerisms	ORPHA:391307
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus...	ORPHA:90291
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Spasticity, Seizure, Generalized hypoto...	OMIM:617350
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Kyphoscoliosis	OMIM:617977
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Inability to walk, Long eyelashes, Bilateral conductive hearing impairment, Low-set ears, Dysphag...	OMIM:617802
Alg2-Cdg	Abnormal basal ganglia MRI signal intensity, Infantile spasms, Microcephaly, Seizure, Lateral ven...	ORPHA:79326
Pelizaeus-Merzbacher Disease	Generalized dystonia, Writer's cramp, Cerebral dysmyelination, Microcephaly, Tremor, Head titubat...	OMIM:312080
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Dysphagia	ORPHA:240103
Polymicrogyria, Bilateral Perisylvian, X-Linked	Pseudobulbar paralysis, Polymicrogyria, Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:300388
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Optic dis...	OMIM:174300
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Torticollis, Dystonia	OMIM:620245
Orofaciodigital Syndrome Xv	Lobulated tongue, Midline notch of upper alveolar ridge	OMIM:617127
Dyskeratosis Congenita	Esophageal stenosis, Malabsorption, Anorectal anomaly, Tracheoesophageal fistula, Oral leukoplakia	ORPHA:1775
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate	OMIM:620183
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Absent brainstem auditory responses, Decreased number of lar...	ORPHA:101085
Auriculocondylar Syndrome 1	Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-...	OMIM:602483
Lipoid Proteinosis Of Urbach And Wiethe	Aggressive behavior, Bilateral intracerebral calcifications, Generalized non-motor (absence) seiz...	OMIM:247100
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Thoracic scoliosis, Knee contracture, Death in childhood,...	OMIM:620278
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Bilateral tonic-clonic seizure, Microcephaly, Seizure, Status epilepticus, Focal impaired awarene...	OMIM:613970
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Esophageal varix, Respiratory insufficiency	ORPHA:367
Lipoyltransferase 1 Deficiency	Cerebellar atrophy, Axial hypotonia, Spastic tetraparesis, Hypotonia, Abnormal cerebral white mat...	OMIM:616299
Neurodegeneration With Brain Iron Accumulation 3	Cavitation of the basal ganglia, Writer's cramp, Tremor, Rigidity, Dysphagia, Choreoathetosis, Bl...	OMIM:606159
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle	OMIM:156600
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic disc pallor, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of the pon...	ORPHA:468631
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ...	OMIM:620292
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the...	ORPHA:672
Folinic Acid-Responsive Seizures	Cerebellar atrophy, Spastic tetraparesis, Clonic seizure, Frontotemporal cerebral atrophy, Seizur...	ORPHA:79097
Intestinal Botulism	Death in infancy, Respiratory insufficiency due to muscle weakness, Dyspnea, Diarrhea, Xerostomia...	ORPHA:178481
Developmental And Epileptic Encephalopathy 103	Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epile...	OMIM:619913
Deafness, Dystonia, And Cerebral Hypomyelination	Cerebellar atrophy, Microcephaly, Cerebral atrophy, Seizure, Dystonia	OMIM:300475
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Gait disturbance, Macrotia, Abnormal repetitive mannerisms, Self-mutilation	ORPHA:457240
Combined Oxidative Phosphorylation Deficiency 35	Generalized myoclonic seizure, Microcephaly, Cerebral atrophy, Generalized hypotonia, Dystonia, F...	OMIM:617873
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ...	OMIM:609637
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Hypotonia, Cerebral atrophy,...	OMIM:620156
Glycogen Storage Disease Iv	Esophageal varix	OMIM:232500
Orofaciodigital Syndrome Xiv	Natal tooth, Hamartoma of tongue, Cryptorchidism, Supernumerary tooth, Cleft lip, Aplasia of the ...	OMIM:615948
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive beh...	ORPHA:168491
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec...	ORPHA:983
Retinitis Pigmentosa 78	Optic disc pallor, Cystoid macular edema	OMIM:617433
Leukodystrophy, Hypomyelinating, 15	Cerebellar atrophy, Microcephaly, Cerebral atrophy, Dysphagia, Athetosis, Seizure, Hypoplasia of ...	OMIM:617951
Dystonia 16	Generalized dystonia, Postural tremor, Dysphagia, Retrocollis, Limb dystonia, Laryngeal dystonia	OMIM:612067
Giant Axonal Neuropathy	Abnormal pituitary gland morphology	ORPHA:643
Developmental And Epileptic Encephalopathy 19	Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal impai...	OMIM:615744
Primary Dystonia, Dyt6 Type	Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary...	ORPHA:98806
Usher Syndrome, Type 1M	Drusen, Optic disc pallor	OMIM:618632
Spinocerebellar Ataxia Type 28	Limb dystonia, Kinetic tremor, Rigidity, Head tremor, Dystonia, Spasticity	ORPHA:101109
White-Sutton Syndrome	Optic nerve hypoplasia, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Rod-co...	OMIM:616364
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Cockayne Syndrome Type 1	Anophthalmia, Delayed eruption of primary teeth, Abnormality of the dentition, Optic atrophy, Pig...	ORPHA:90321
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy	OMIM:616079
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Lower limb spasticity, Diffuse cerebral atrophy, Infantile axial hypotonia, Microcephaly, Focal-o...	ORPHA:438114
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Infantile spasms, Head titubation, Hypotonia, Leukoencephalopathy, Aplasia/Hypoplasia of the corp...	ORPHA:88639
Spinocerebellar Ataxia 7	Mental deterioration, Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enlarged sylvian cistern, Axial hypotonia, Bilateral tonic-clonic seizure, Microcephaly, Abnormal...	OMIM:615802
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Microphthalmia, Macular coloboma, Long philtrum	OMIM:615145
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Secretory diarrhea, Cleft palate,...	OMIM:619573
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Rectal atresia, Neonatal death, Anal atresia	OMIM:613390
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Severe muscular hypotonia, Dysplastic corpus callosum, Cerebral atrophy, Seizure, Hypoplasia of t...	OMIM:616900
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Neurofibrillary tangles, Amyotrophic lateral sclerosis, Global brain atrophy	OMIM:619132
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Leukoencephalopathy, Spastic dysarthria, Dystonia, Spasticity, Cerebral cortical atrophy	ORPHA:314603
Alazami Syndrome	Abnormal eating behavior, Sparse eyebrow, Low-set ears, Abnormal repetitive mannerisms, Self-muti...	ORPHA:319671
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Spastic tetraplegia, Seizure, Secondary microcephaly, Hypoplasia of the...	OMIM:619306
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, E...	ORPHA:411511
Phocomelia, Schinzel Type	High, narrow palate, Anal atresia, Tracheoesophageal fistula, Cleft palate	ORPHA:2879
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:300580
Faciocardiomelic Dysplasia, Lethal	Neonatal death, Microglossia, Narrow mouth	OMIM:227270
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Cataract-Intellectual Disability-Hypogonadism Syndrome	Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Tooth malposition	ORPHA:1387
2P15P16.1 Microdeletion Syndrome	Facial palsy, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Cerebellar hypoplasia	ORPHA:261349
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Lens coloboma, Retinal vascular malformation, Cerebellar hy...	ORPHA:42775
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Duodenal stenosis	ORPHA:2547
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo...	OMIM:616170
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Febrile seizure (within the age range of 3 months to 6 years), Axial hypotonia, Microcephaly, Hyp...	OMIM:619224
Cirrhosis, Familial	Pulmonary arterial hypertension, Esophageal varix	OMIM:215600
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Cerebral white matter atrophy, Generalized-onset seizure, Infantile spasms, Focal-onset seizure, ...	ORPHA:2148
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Dysphagia, Gastroesophage...	ORPHA:89842
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy	OMIM:616155
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Bilateral tonic-clon...	ORPHA:488627
Orofaciodigital Syndrome Type 14	Hamartoma of tongue, Accessory oral frenulum, Bilateral cryptorchidism, Supernumerary tooth, Apla...	ORPHA:434179
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp...	OMIM:616172
Spondylo-Ocular Syndrome	Retinal detachment, Aplasia/Hypoplasia of the lens, Thin vermilion border, Long philtrum, Microph...	ORPHA:85194
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia, Abnormal upper ...	OMIM:606070
Mccune-Albright Syndrome	Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio...	OMIM:174800
Mitochondrial Complex I Deficiency, Nuclear Type 13	Generalized dystonia, Bilateral tonic-clonic seizure, Reduced cerebral white matter volume, Micro...	OMIM:618235
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, High palate, Inspiratory stridor, Irregular respiration	OMIM:604377
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex...	OMIM:400045
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Bardet-Biedl Syndrome 16	Respiratory distress	OMIM:615993
Crouzon Syndrome	Optic atrophy, Hypopigmented skin patches, Melanocytic nevus, Conductive hearing impairment, Narr...	ORPHA:207
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Rod-cone dystrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remye...	OMIM:311070
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Axial hypotonia, Oculogyric crisis, Hypertonia, Generalized hypotonia, Dystonia, Attention defici...	OMIM:617384
Fg Syndrome 3	Pyloric stenosis, Chronic constipation, Death in infancy	OMIM:300406
Hsd10 Disease, Infantile Type	Restlessness, Diffuse cerebral atrophy, Spastic tetraparesis, Microcephaly, Hypotonia, Abnormal b...	ORPHA:391428
Kniest Dysplasia	Respiratory distress, Hip contracture, Enlarged joints, Tracheomalacia, Hip dislocation, Cleft pa...	OMIM:156550
Hyperphenylalaninemia, Bh4-Deficient, B	Severe muscular hypotonia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Seizure, Generalized hyp...	OMIM:233910
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Kypho...	OMIM:183900
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Reduced forced vital capacity, Pyloric stenosis, Respiratory insuffici...	OMIM:619461
Duodenal Atresia	Duodenal atresia	OMIM:223400
Intellectual Developmental Disorder, X-Linked 103	Seizure, Lateral ventricle dilatation, Polymicrogyria	OMIM:300982
Hyperphenylalaninemia, Bh4-Deficient, A	Axial hypotonia, Microcephaly, Tremor, Rigidity, Dysphagia, Choreoathetosis, Seizure, Hypertonia,...	OMIM:261640
Mednik Syndrome	Death in infancy, Jejunal atresia, Diarrhea, Death in childhood, Neonatal death, Volvulus, Microc...	OMIM:609313
Myasthenic Syndrome, Congenital, 22	Decreased response to growth hormone stimulation test	OMIM:616224
Cri-Du-Chat Syndrome	Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Optic atrophy, P...	OMIM:123450
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen...	ORPHA:90796
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:98754
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Submucous cleft hard palate	OMIM:609166
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Congenital hip dislocation, High palate	OMIM:271225
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid...	OMIM:615926
Ring Chromosome 10 Syndrome	Microphthalmia, Thin vermilion border, Aganglionic megacolon, Long philtrum	ORPHA:1438
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Cleft upper lip, Agenesis of incisor, Dental malocclusion, ...	OMIM:610829
Frontonasal Dysplasia 1	Microphthalmia, Median cleft lip, Median cleft palate, Widely-spaced maxillary central incisors	OMIM:136760
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Microcephaly, Bruxism, Seizure, Agitation, Dystonia, Recurrent hand flapping, Ventriculomegaly	OMIM:617903
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Respiratory failure, Tachypnea, Cough	OMIM:263000
Craniosynostosis 4	Optic nerve hypoplasia	OMIM:600775
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract	OMIM:614186
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Meckel Syndrome, Type 2	Microphthalmia, Intestinal malrotation, Cleft palate	OMIM:603194
Fetal Alcohol Syndrome	Thin upper lip vermilion, Non-midline cleft lip, Cleft palate, Microdontia, Microphthalmia, Smoot...	ORPHA:1915
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Limb dystonia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Infantile spasms, M...	ORPHA:457351
Kcnq2-Related Epileptic Encephalopathy	Epileptic spasm, Abnormal globus pallidus morphology, Hypotonia, Cerebral atrophy, Abnormal cereb...	ORPHA:439218
Colonic Atresia	Peptic ulcer, Colonic atresia, Duodenal stenosis	ORPHA:1198
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala...	ORPHA:3241
Syndromic Diarrhea	Villous atrophy, Gastritis, Hepatoblastoma, Bloody diarrhea, Colitis, Hypoplasia of the thymus, I...	ORPHA:84064
Monosomy 18P	Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodontia, Microphthal...	ORPHA:1598
Coenzyme Q10 Deficiency, Primary, 5	Cerebellar atrophy, Hypotonia, Cerebral atrophy, Seizure, Hypertonia, Secondary microcephaly, Gen...	OMIM:614654
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Ankle flexion contracture, High, narrow palate, Knee flexion contracture, S...	OMIM:608799
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior...	ORPHA:2526
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate...	OMIM:305400
Combined Oxidative Phosphorylation Deficiency 27	Cerebellar atrophy, Severe muscular hypotonia, Bilateral tonic-clonic seizure, Microcephaly, Hypo...	OMIM:616672
Den Hoed-De Boer-Voisin Syndrome	Tremor, Abnormal repetitive mannerisms, Stereotypical hand wringing, Nocturnal seizures, Seizure,...	OMIM:619229
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Mitochondrial Complex I Deficiency, Nuclear Type 23	Hypotonia, Generalized hypotonia, Dystonia	OMIM:618244
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Broad-based gait, Ataxia, Hyperactivity, Abnormal eating behavior, Trem...	ORPHA:98794
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cerebral white matter atrophy, Ventriculomegaly, Impulsivity, Microcephaly, Aggressive behavior, ...	ORPHA:500055
Developmental And Epileptic Encephalopathy 18	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-...	OMIM:615476
Gorham-Stout Disease	Torticollis, Abnormality of the internal auditory canal, Hearing impairment	ORPHA:73
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Congenital se...	ORPHA:894
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Treacher Collins Syndrome 1	Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N...	OMIM:154500
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta...	OMIM:616331
Treacher-Collins Syndrome	Tracheoesophageal fistula, Cleft palate, Respiratory insufficiency, Glossoptosis, High palate, Re...	ORPHA:861
Glutaric Acidemia I	Rigidity, Hydrocephalus, Hypotonia, Spastic diplegia, Opisthotonus, Choreoathetosis, Seizure, Lat...	OMIM:231670
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, High palate	OMIM:619053
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:254770
Holoprosencephaly	Anophthalmia, Median cleft lip, Bilateral cleft lip, Median cleft lip and palate, Deep philtrum, ...	ORPHA:2162
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Seizure, Atrophy/Degeneration involving the spinal cord, Abnormal thalamic MRI signal intensity, ...	ORPHA:70595
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:98793
Paroxysmal Non-Kinesigenic Dyskinesia	Rigidity, Torticollis, Choreoathetosis, Dystonia	ORPHA:98810
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Postural tremor, Tremor, Dysphagia, Seizure, Hypoplasia of the corpus callosu...	OMIM:607694
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Thin vermilion border, Short philtrum	ORPHA:261304
Orofaciodigital Syndrome Iii	Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Leukodystrophy, Hypomyelinating, 16	Hypotonia, Choreoathetosis, Seizure, Hypertonia, Hypoplasia of the corpus callosum, Dystonia, Int...	OMIM:617964
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Postural tremor, Writer's cramp, Cogwheel rigidity, Dystonia, Spasti...	OMIM:128230
Baralle-Macken Syndrome	Microcephaly, Focal-onset seizure, Dystonia, Neonatal hypotonia, Spasticity, Global brain atrophy	OMIM:619255
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Pneumonia, Enlarged polycystic ovaries, Osteoarthritis, Polycystic ovaries, Abn...	ORPHA:2298
Short Chain Acyl-Coa Dehydrogenase Deficiency	Microcephaly, Seizure, Hypertonia, Dystonia, Infantile muscular hypotonia	ORPHA:26792
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Tracheal atresia, Respiratory insufficiency	OMIM:601612
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Pierre-Robin sequence, Glossoptosis, High palate, Gastroesophageal refl...	OMIM:613604
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Ankyloglossia, Death in infancy	OMIM:602361
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Head titubation, Hypotonia, Seizure, Myoclonus, Dystonia, Agenesis of corpus callosum	OMIM:250620
Multiple Epiphyseal Dysplasia, Lowry Type	Cleft hard palate	ORPHA:166016
Glut1 Deficiency Syndrome 2	Tremor, Cerebral atrophy, Choreoathetosis, Seizure, Dystonia	OMIM:612126
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Diarrhea, Ta...	ORPHA:454836
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Supernumerary nipple, Impaired pain sensation, Gait ataxia, Low-set ears, Abnormal repetitive man...	OMIM:616579
Familial Melanoma	Retinopathy, Neoplasm of the stomach	ORPHA:618
Hypermanganesemia With Dystonia 2	Cerebellar atrophy, Axial hypotonia, Generalized dystonia, Dystonia, Microcephaly, Tremor, Scisso...	OMIM:617013
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Abnormality of the knee, Esophageal stricture, Abnormality of the elbow	ORPHA:158673
Triple A Syndrome	Anterior hypopituitarism, Adrenal insufficiency	ORPHA:869
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma, Intestinal malrotation	ORPHA:1553
Hypomandibular Faciocranial Dysostosis	Pursed lips, Optic disc coloboma, Aglossia	OMIM:241310
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Dental crowding, Optic atrophy, Narrow palate, Gastroesophageal...	ORPHA:313892
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Synophrys, Self-biting, Ab...	ORPHA:3306
Netherton Syndrome	Villous atrophy, Allergic rhinitis, Asthma, Chronic rhinitis, Recurrent infection of the gastroin...	OMIM:256500
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Ogden Syndrome	Abnormal head movements, Torticollis, Fine hair, Shuffling gait, Low-set ears, Macrotia, Aplasia/...	ORPHA:276432
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma	ORPHA:64743
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:177904
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormality of retinal pigmentation, Microcephaly	ORPHA:290
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Hypotonia, Seizure, Myoclonus, Dystonia, Spasticity, Pachygyria	OMIM:620094
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Axial hypotonia, Partial agenesis of the corpus callosum, Spastic paraplegia, Cerebral atrophy, L...	OMIM:617296
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Hypoplasia of the corpus callosum	ORPHA:261250
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Intracerebral periventricular calcifications, Microcephaly, Spastic ...	ORPHA:168577
D-2-Hydroxyglutaric Aciduria 1	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypotonia, Myoclonic seizure, Su...	OMIM:600721
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Agenesis of corpus callosum, Optic atrophy	ORPHA:3301
Huntington Disease-Like 1	Abnormal head movements, Restlessness, Chorea, Dysmetria, Gait ataxia, EEG abnormality, Gait dist...	ORPHA:157941
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Dystonia, Writer's cramp, Rigidity, Cerebellar Purkinje layer at...	ORPHA:98759
Radio-Renal Syndrome	Respiratory distress, High, narrow palate, Dyspnea, Abnormality of the elbow, Abnormal form of th...	ORPHA:3015
Leukodystrophy, Hypomyelinating, 21	Cerebellar atrophy, Microcephaly, Corpus callosum atrophy, Athetosis, Dystonia	OMIM:619310
Combined Oxidative Phosphorylation Defect Type 39	Lower limb spasticity, Infantile axial hypotonia, Microcephaly, Corpus callosum atrophy, Deep whi...	ORPHA:565624
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior, Compulsive behaviors, Low-s...	OMIM:618430
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:177901
Periventricular Nodular Heterotopia	Pyloric stenosis, Shoulder dislocation, Gastroesophageal reflux, Patellar dislocation, Scoliosis	ORPHA:98892
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Multifocal seizures, Infantile axial hypotonia, Agg...	ORPHA:572798
Dystonia 3, Torsion, X-Linked	Tremor, Torsion dystonia, Myoclonus	OMIM:314250
Mitochondrial Myopathy With Lactic Acidosis	Hypotonia, Seizure, Focal impaired awareness seizure, Dystonia, Spasticity	OMIM:251950
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Robinow Syndrome, Autosomal Recessive 2	Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, Long philtrum, Triangular m...	OMIM:618529
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Mitochondrial Complex I Deficiency, Nuclear Type 3	Seizure, Generalized hypotonia, Dystonia	OMIM:618224
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Repetitive compulsive behavior, Abnormality of the ear, EEG abnormality, Frontal upsweep of hair,...	ORPHA:391372
Hypotonia, Infantile, With Psychomotor Retardation	Neonatal hypotonia, Lateral ventricle dilatation, Severe muscular hypotonia, Hypoplasia of the co...	OMIM:616816
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Highly arched eyebrow, Synophrys, Sensorineural hearing impairment, Low-set ears, ...	OMIM:617751
Boucher-Neuhauser Syndrome	Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism	OMIM:215470
Meckel Syndrome	Anophthalmia, Abnormal chorioretinal morphology, Aplasia/Hypoplasia of the tongue, Optic atrophy,...	ORPHA:564
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Retinal thinning	OMIM:618970
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Abnormal basal ganglia MRI signal intensity, Cerebellar atrophy, Microcephaly, Choreoathetosis, P...	ORPHA:431361
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
Arthrogryposis, Impaired Intellectual Development, And Seizures	Focal motor seizure, Generalized non-motor (absence) seizure, Generalized hypotonia, Microcephaly	OMIM:615553
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Allergic rhinitis, Edema, Malabsorption, Diarrhea, Ato...	ORPHA:2070
Fg Syndrome Type 1	Optic nerve hypoplasia, Aplasia/Hypoplasia of the corpus callosum	ORPHA:93932
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma...	OMIM:300048
Spinocerebellar Ataxia 12	Cerebellar atrophy, Axial dystonia, Head tremor, Cerebral cortical atrophy, Action tremor	OMIM:604326
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Microcephaly, Tremor, Oral-pharyngeal dysphagia, Spastic diplegia, Seizure, Generalized hypotonia...	ORPHA:480907
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Axial hypotonia, Oculogyric crisis, Microcephaly, Tremor, Rigidity, Seizure, Dystonia, Limb hyper...	ORPHA:70594
Sim1-Related Prader-Willi-Like Syndrome	Premature pubarche, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Pr...	ORPHA:398079
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hematochezia, Colon ...	OMIM:174900
Optic Atrophy 5	Optic disc pallor, Optic atrophy	OMIM:610708
Thrombocytopenia, Paris-Trousseau Type	Pyloric stenosis	OMIM:188025
Leukodystrophy, Hypomyelinating, 25	Seizure, Dystonia, Hypotonia, Microcephaly	OMIM:620243
Prader-Willi Syndrome	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:739
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Synotia, Narrow internal auditory canal, Aplasia/Hypoplasia of...	ORPHA:990
Coffin-Siris Syndrome 6	Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv...	OMIM:617808
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c...	ORPHA:785
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos, Anal atresia	OMIM:619318
Progeria-Short Stature-Pigmented Nevi Syndrome	Abnormal muscle tone, Abnormal thalamus morphology, Microcephaly	ORPHA:2959
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma...	ORPHA:2869
Pancreatic And Cerebellar Agenesis	Agenesis of cerebellar vermis, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Cereb...	OMIM:609069
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Thick cerebral cortex, Dystonia, Generalized-onset seizure, Dysplastic ...	ORPHA:357058
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Bilateral tonic-clonic seizure, Microcephaly, Atrophy of the spinal cord, ...	ORPHA:395
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology, Aganglionic megacolon	ORPHA:2151
Joubert Syndrome 21	Anophthalmia, Optic atrophy, Megalopapilla, Hypoplasia of the brainstem, Hypoplasia of the corpus...	OMIM:615636
Ornithine Transcarbamylase Deficiency	Pyloric stenosis	ORPHA:664
Prune Belly Syndrome	Intestinal malrotation, Constipation, Volvulus, Anal atresia, Intestinal atresia	ORPHA:2970
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow response, ...	ORPHA:2004
Pallister-Hall-Like Syndrome	Anterior hypopituitarism, Hypothalamic hamartoma, Micropenis	OMIM:241800
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Broad-based gait, Cupped ear, Limb ataxia, Self-injurious behavior, Low-set ears, Truncal ataxia,...	OMIM:617101
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Cerebral white matter atrophy, Axial hypotonia, Bilateral tonic-clonic seizure with generalized o...	OMIM:618451
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microdontia, Microphthalmia, Widely spaced teeth	OMIM:619694
Basal Ganglia Calcification, Idiopathic, 1	Tremor, Basal ganglia calcification, Rigidity, Athetosis, Seizure, Dystonia	OMIM:213600
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Furrowed tongue	ORPHA:2928
Chromosome 5P13 Duplication Syndrome	Posteriorly rotated ears, Low posterior hairline, Self-injurious behavior, Compulsive behaviors, ...	OMIM:613174
46,Xy Sex Reversal 5	Sex reversal, Elevated circulating follicle stimulating hormone level	OMIM:613080
Larsen-Like Syndrome, Lethal Type	Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Respiratory insufficien...	OMIM:245650
Bor Syndrome	Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th...	ORPHA:107
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Abnormality of the knee, Hypoventilation, Neonatal respiratory distress, Li...	ORPHA:98915
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Microcephaly, Tremor, Rigidity, Head titubation, Hypotonia, Cerebral atrophy, Choreoathetosis, Se...	OMIM:618877
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Bilateral tonic-clonic seizure, Hypotonia, Generalized non-motor (absence) seizure...	OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Restlessness, Axial hypotonia, Facial hypotonia, Microcephaly, Tremor, Spastic pa...	OMIM:300055
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract	ORPHA:35737
Pontocerebellar Hypoplasia, Type 12	Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Primary microcephaly	OMIM:618266
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Cerebral cortical atrophy, Abnormality of peripheral nerve conduction, Motor axon...	ORPHA:48431
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cleft lip, Deep philtrum, Cleft palate, Downturned corners of mouth, Retinal coloboma, Long philt...	OMIM:618571
Oromandibular Dystonia	Respiratory distress, Abnormal lip morphology, Dysphagia	ORPHA:93958
Intellectual Developmental Disorder, Autosomal Recessive 71	Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Spinocerebellar Ataxia 48	Cerebellar atrophy, Dystonia, Bilateral tonic-clonic seizure, Tremor, Dysphagia	OMIM:618093
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Neonatal hypotonia, Aggressive behavior, Dysplastic corpus callosum, Periventricular cysts, Thick...	ORPHA:544488
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:620269
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Athetosis, Axial hypotonia, Restlessness, Dystonia	OMIM:615159
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Decreased nasal nitric oxide, Chronic sinusitis, Intestinal malrotation, Duodenal atresia	OMIM:619608
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Vomiting	OMIM:237310
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Microcephaly, Generalize...	OMIM:618170
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Inflammation of the large intestine, Chronic diarrhea, Esophageal varix	OMIM:614576
Blau Syndrome	Camptodactyly of finger, Dyspnea, Xerostomia, Synovitis, Joint swelling, Polyarticular arthritis,...	ORPHA:90340
Pontocerebellar Hypoplasia, Type 2C	Dystonia, Microcephaly	OMIM:612390
Mitochondrial Complex I Deficiency, Nuclear Type 26	Cerebellar atrophy, Reduced cerebral white matter volume, Cerebral atrophy, Dysphagia, Choreoathe...	OMIM:618247
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Pain insensitivity, Ataxia, Inability to walk, Chorea, Repetitive compulsive behavior, Dysphagia,...	OMIM:300260
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysphagia, Spastic dysarthria, Myoclonus, Dys...	ORPHA:313772
Choreoacanthocytosis	Self-mutilation of tongue and lips due to involuntary movements, Caudate atrophy, Aggressive beha...	OMIM:200150
Recessive Dystrophic Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Esophageal stricture, Gastrointestinal inflammation, Enamel...	ORPHA:79409
Blepharophimosis-Impaired Intellectual Development Syndrome	Sparse scalp hair, Sparse eyelashes, Posteriorly rotated ears, Highly arched eyebrow, Sparse eyeb...	OMIM:619293
Parkinson Disease 19A, Juvenile-Onset	Rigidity, Pill-rolling tremor, Seizure, Dystonia, Spasticity, Limb hypertonia	OMIM:615528
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior...	OMIM:602499
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Aggres...	OMIM:610042
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Lewy bodies	OMIM:619133
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Liang-Wang Syndrome	Cerebellar atrophy, Axial hypotonia, Generalized non-motor (absence) seizure, Cerebral atrophy, S...	OMIM:618729
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Dystonia, Posteriorly rotated ears, Ataxia, Prominent crus of helix, Inability to walk, Synophrys...	OMIM:617804
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
Pontocerebellar Hypoplasia, Type 2A	Restlessness, Microcephaly, Dysphagia, Opisthotonus, Abnormal cerebral white matter morphology, S...	OMIM:277470
Lead Poisoning	Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Decreased circulati...	ORPHA:330015
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Optic nerve hypoplasia	ORPHA:79345
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Diarrhea, Vomiting	OMIM:612075
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Cerebellar atrophy, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypotonia, Seizure,...	OMIM:619286
Joubert Syndrome 38	Decreased serum insulin-like growth factor 1, Small pituitary gland, Decreased response to growth...	OMIM:619476
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysphagia, Myoclonus, Dystonia, Generalized m...	OMIM:614487
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor...	ORPHA:90301
Pyruvate Dehydrogenase Deficiency	Microcephaly, Tremor, Hypotonia, Aplasia/Hypoplasia of the corpus callosum, Choreoathetosis, Seiz...	ORPHA:765
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Hydranencephaly, Abno...	ORPHA:2570
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma	OMIM:169550
Myoclonic-Astatic Epilepsy	Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Simple feb...	ORPHA:1942
Dyskeratosis Congenita, Autosomal Recessive 8	Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture	OMIM:620133
Muscular Dystrophy, Congenital, With Or Without Seizures	Axial hypotonia, Generalized-onset seizure, Focal-onset seizure, Hypotonia, Generalized non-motor...	OMIM:620166
Alexander Disease	Microcoria	OMIM:203450
Dystonia 12	Tremor, Torticollis, Dysphagia, Dystonia	OMIM:128235
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Neonatal respiratory distress, Esophageal stenosis, Downturned corners of mouth, Short philtrum, ...	OMIM:615510
Fanconi Anemia, Complementation Group S	Macrodontia, Dental malocclusion, Narrow palate, Microphthalmia, Thick upper lip vermilion	OMIM:617883
Glutamine Deficiency, Congenital	Hypotonia, Subependymal cysts, Seizure, Lateral ventricle dilatation, Neonatal death, Generalized...	OMIM:610015
Esophageal Ring, Lower	Dysphagia, Hiatus hernia	OMIM:133240
Mulibrey Nanism	Dental crowding, Dental malocclusion, Pigmentary retinopathy, Hypodontia, Microglossia, Enamel hy...	OMIM:253250
Moebius Syndrome	Respiratory distress, Abnormality of the dentition, Bifid uvula, High palate, Dysphagia, Decrease...	OMIM:157900
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E...	ORPHA:2363
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Thin upper lip vermilion, Deep philtrum, Dental malocclusion, High palate, ...	ORPHA:329178
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Myoclonus, Bilateral tonic-clonic seizure, Spastic diplegia, Dystonia	OMIM:619065
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:79137
Kleefstra Syndrome 2	Everted lower lip vermilion, Bifid uvula	OMIM:617768
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Bifid uvula, Cleft palate	OMIM:606164
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:613863
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Microdontia, Microphthalmia	ORPHA:2728
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Restlessness, Oculogyric crisis, Rigidity, Hypotonia, Dysphagia, Opisthotonus, Choreoathetosis, S...	ORPHA:13
Severe Neurodegenerative Syndrome With Lipodystrophy	Caudate atrophy, Hyperactivity, Tremor, Cerebral atrophy, Seizure, Status epilepticus, Myoclonus,...	ORPHA:363400
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Postural tremor, Oculogyric crisis, Rigidity, Hypotonia, Focal dystonia, My...	ORPHA:101150
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Asymmetry of the ears, Synophrys, Sensorineural hearing impairment, Low anterior h...	OMIM:617796
Osteogenesis Imperfecta, Type X	Respiratory distress, Thoracic scoliosis, Pyloric stenosis, Recurrent pneumonia, Genu valgum, Pla...	OMIM:613848
Xq21 Microdeletion Syndrome	Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op...	ORPHA:1435
Adams-Oliver Syndrome 5	Pulmonary arterial hypertension, Esophageal varix	OMIM:616028
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Respiratory distress, Pyloric stenosis, Gastrointestinal dysmotility...	ORPHA:363705
Intellectual Developmental Disorder, Autosomal Dominant 22	Microcephaly, Choroid plexus cyst, Hypotonia, Generalized non-motor (absence) seizure, Seizure, G...	OMIM:612337
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Highly arched eyebrow, Aggressive behavior, Attention deficit hyperactivity d...	OMIM:618825
Vater/Vacterl Association	Esophageal atresia, Tracheoesophageal fistula, Anal atresia	OMIM:192350
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myo...	ORPHA:420492
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Pyloric stenosis, Congenital hip dislocation	OMIM:133705
Microcephaly 26, Primary, Autosomal Dominant	Axial hypotonia, Spastic tetraparesis, Microcephaly, Dysplastic corpus callosum, Simplified gyral...	OMIM:619179
Congenital Disorder Of Glycosylation, Type Iiq	Small pituitary gland	OMIM:617395
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Decreased response to growth hormone stimulation test	OMIM:615286
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Bilateral tonic-clonic seizure, Rigidity, Focal motor seizure, S...	OMIM:619911
Malignant Peritoneal Mesothelioma	Dyspnea, Peritonitis, Ileus	ORPHA:168811
Leber Optic Atrophy And Dystonia	Dementia, Optic atrophy, Leber optic atrophy	OMIM:500001
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate	ORPHA:2001
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, High, narrow palate, Cleft palate, Dysphagia, Anteriorly placed anus, G...	OMIM:618494
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607631
Developmental And Epileptic Encephalopathy 51	Cerebellar atrophy, Epileptic spasm, Corpus callosum atrophy, Focal-onset seizure, Hypotonia, Myo...	OMIM:617339
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Cryptorchidism, Death in childhood	OMIM:615597
Cog2-Cdg	Small pituitary gland	ORPHA:435934
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Tented upper lip vermilion, Thick vermilion border, High palate, Scoliosis,...	OMIM:619383
Hemochromatosis, Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Hepatocellular carcinom...	OMIM:235200
Tylosis With Esophageal Cancer	Esophageal carcinoma, Oral leukoplakia	OMIM:148500
3Q29 Microduplication Syndrome	Abnormality of the dentition, Deep philtrum, Cleft palate, Ectopic anus, High palate, Aniridia, M...	ORPHA:251038
Epilepsy, Idiopathic Generalized	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Pfeiffer Syndrome Type 2	Respiratory distress, Intestinal malrotation, Cleft palate, High palate, Tracheomalacia, Anal atr...	ORPHA:93259
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Facial palsy, Microcephaly, Abnormal optic disc morphology, Retinal colob...	ORPHA:508498
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Torsion dystonia, ...	OMIM:128100
Leber Congenital Amaurosis 14	Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy	OMIM:613341
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Lumbar hyperlordosis, Dyspnea, Scoliosis, Cough	ORPHA:86812
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Trichothiodystrophy 3, Photosensitive	Natal tooth, Carious teeth, Pyloric stenosis, Eclabion, Microphthalmia, Meckel diverticulum	OMIM:616395
Rett Syndrome, Congenital Variant	Chorea, Tongue thrusting, Bruxism, Protruding ear, Athetosis, EEG abnormality, Dystonia, Abnormal...	OMIM:613454
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Intestinal malrotation	OMIM:601163
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Stevenson-Carey Syndrome	Pierre-Robin sequence, Downturned corners of mouth, Gastroesophageal reflux, Narrow mouth, Microp...	OMIM:611961
Cholesteryl Ester Storage Disease	Death in infancy, Diarrhea, Esophageal varix, Vomiting, Steatorrhea	OMIM:278000
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Downturned corners of mouth, Microphthalmia, Short philtrum	ORPHA:93267
Saethre-Chotzen Syndrome	Abnormal hair pattern, Prominent crus of helix, External ear malformation, Sensorineural hearing ...	ORPHA:794
Ocular Motor Apraxia	Jerky head movements	OMIM:257550
Gm1-Gangliosidosis, Type Iii	Diffuse cerebral atrophy, Ventriculomegaly, Dystonia	OMIM:230650
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Degeneration of anterior horn cells, Neonatal hypotonia, Axonal degeneration	OMIM:604320
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Carious teeth, Flat acetabular roof, Thick vermilion border, Widely spaced ...	OMIM:617102
Spastic Paraplegia, Ataxia, And Mental Retardation	Cerebellar atrophy, Lower limb spasticity, Spastic paraplegia, Dystonia, Spastic gait	OMIM:607565
Kapur-Toriello Syndrome	Intestinal malrotation, Cleft upper lip, Cleft palate, Retinal coloboma, Microphthalmia	OMIM:244300
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Short corpus callosum, Lateral ventricle dilatation, Progressive spasticity	OMIM:619972
Generalized Epilepsy With Febrile Seizures Plus, Type 10	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab...	OMIM:618482
Woodhouse-Sakati Syndrome	Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t...	ORPHA:3464
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Microcephaly, Tremor, Hypotonia, Dysphagia, Choreoathetosis, Seizure, Dystoni...	OMIM:617664
Malaria	Respiratory distress	ORPHA:673
Developmental And Epileptic Encephalopathy 66	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C...	OMIM:618067
Proteus-Like Syndrome	Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Heterochromia iridis	ORPHA:2969
Chronic Bilirubin Encephalopathy	Seizure, Hypertonia, Abnormal thalamic MRI signal intensity	ORPHA:529808
Sarcoidosis	Abnormality of the gastrointestinal tract, Dyspnea, Pneumothorax, Enlarged lacrimal glands, Bronc...	ORPHA:797
Acute Bilirubin Encephalopathy	Seizure, Hypertonia, Abnormal thalamic MRI signal intensity	ORPHA:529799
Intellectual Developmental Disorder, X-Linked 41	Axial hypotonia, Generalized non-motor (absence) seizure	OMIM:300849
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Decreased response to growth hormone stimula...	OMIM:610978
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria	OMIM:219250
Gabriele-De Vries Syndrome	Esophageal atresia, High palate, Oral-pharyngeal dysphagia	ORPHA:506358
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Pachygyria, Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:600176
Mitchell-Riley Syndrome	Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic...	OMIM:615710
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Axial hypotonia, Generalized dystonia, Infantile spasms, Aggressive behavior, Cerebral edema, Cer...	OMIM:618321
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy	ORPHA:85297
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Highly arched eyebrow, Congenital sensorineural hearing impairment, Sensorineural hearing impairm...	ORPHA:500159
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure...	OMIM:614299
Temtamy Syndrome	Dental crowding, Hypoplasia of teeth, Chorioretinal coloboma, Long philtrum, Microphthalmia	OMIM:218340
Lymphatic Malformation 5	Cleft palate	OMIM:153200
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Dystonia 16	Torticollis, Postural tremor, Dysphagia, Limb dystonia	ORPHA:210571
Hypomandibular Faciocranial Dysostosis	Death in infancy, Aplasia/Hypoplasia of the tongue, Optic disc coloboma, Cleft palate, Narrow mou...	ORPHA:1790
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Thin upper lip vermilion, High, narrow palate, Submucous cleft hard palate,...	OMIM:612863
Congenital Disorder Of Glycosylation, Type Iia	Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Unsteady gait, H...	OMIM:212066
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Potocki-Lupski Syndrome	Hyperactivity, Oral-pharyngeal dysphagia, EEG abnormality, Abnormal repetitive mannerisms, Hearin...	OMIM:610883
Congenital Disorder Of Glycosylation, Type Ii	Epileptic spasm, Infantile spasms, Microcephaly, Generalized hypotonia, Dystonia, Focal T2 hyperi...	OMIM:607906
Adams-Oliver Syndrome 2	Microcephaly, Optic atrophy, Cerebral atrophy, Cerebellar hypoplasia, Microphthalmia	OMIM:614219
Autosomal Recessive Spastic Paraplegia Type 11	Abnormal substantia nigra morphology, Atrophy of the spinal cord, Dysphagia, Hypothalamic atrophy...	ORPHA:2822
Tremor-Ataxia-Central Hypomyelination Syndrome	Postural tremor, Focal-onset seizure, Abnormal basal ganglia morphology, Dysphagia, Spastic dysar...	ORPHA:447896
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Cherry ...	ORPHA:2752
Mitochondrial Complex I Deficiency, Nuclear Type 21	Spasticity, Generalized non-motor (absence) seizure, Leukoencephalopathy	OMIM:618242
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Deep philtrum, Cleft palat...	OMIM:612530
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Tremor, Rigidity, Scissor gait, Dystonia	OMIM:260300
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo...	ORPHA:3163
Cataracts, Spastic Paraparesis, And Speech Delay	Axial hypotonia, Bilateral tonic-clonic seizure, Focal motor seizure, Generalized non-motor (abse...	OMIM:619338
Combined Oxidative Phosphorylation Deficiency 54	Generalized-onset seizure, Tremor, Dysplastic corpus callosum, Seizure, Hypertonia, Secondary mic...	OMIM:619737
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, High, narrow palate, Cleft palate, M...	ORPHA:2714
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide...	OMIM:300602
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Smooth philtrum	OMIM:602501
Spinocerebellar Ataxia 14	Cerebellar atrophy, Attention deficit hyperactivity disorder, Dysphagia, Focal dystonia	OMIM:605361
Schilbach-Rott Syndrome	Submucous cleft hard palate, Bifid uvula, Narrow mouth	OMIM:164220
Holoprosencephaly 7	Microcephaly, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus, P...	OMIM:610828
Combined Malonic And Methylmalonic Acidemia	Axial hypotonia, Generalized clonic seizure, Microcephaly, Seizure, Focal impaired awareness seiz...	ORPHA:289504
Chitayat Syndrome	Respiratory distress, Thick vermilion border, Tracheomalacia	OMIM:617180
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Cryptorchidism, Pyloric stenosis, Cleft palate, High palate, Short philtrum, Scoliosis, Narrow mo...	ORPHA:96184
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Chorioretina...	OMIM:115470
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Hypoplasia of penis, Decreased response to growth hormone stimulation test, Congenital hypothyroi...	OMIM:601427
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Hypotonia, Cerebral atrophy,...	OMIM:272750
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen...	OMIM:613060
Narp Syndrome	Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Dementia, ...	ORPHA:644
Juberg-Hayward Syndrome	Decreased response to growth hormone stimulation test	OMIM:216100
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Jerky head movements	OMIM:245348
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607628
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Spasticity, Leukoencephalopathy, Seizure, Myoclonus, Dystonia, Neonatal hypotonia, Progressive le...	OMIM:252011
Intellectual Developmental Disorder, X-Linked 98	Lower limb spasticity, Hyperactivity, Axial hypotonia, Bilateral tonic-clonic seizure, Atonic sei...	OMIM:300912
Carney Complex	Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma...	ORPHA:1359
Hengel-Maroofian-Schols Syndrome	Cerebellar atrophy, Microcephaly, Hypotonia, Cerebral atrophy, Seizure, Dystonia, Spasticity, Thi...	OMIM:619641
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Leukodystrophy, Hypomyelinating, 9	Lower limb spasticity, Axial hypotonia, Microcephaly, Cerebral atrophy, Pseudobulbar paralysis, H...	OMIM:616140
Aicardi-Goutieres Syndrome 6	Cerebral calcification, Microcephaly, Tremor, Rigidity, Dystonia	OMIM:615010
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Acromelic Frontonasal Dysostosis	Agenesis of corpus callosum, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Hyp...	OMIM:603671
Juvenile Absence Epilepsy	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:1941
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Dysphagia	ORPHA:89844
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Optic atrophy, Anisocoria, Abnormal autonomic nervous system physiology,...	OMIM:231550
Trichinellosis	Confusion, Facial palsy, Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Abnorm...	ORPHA:863
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension, High palate	OMIM:619272
Tularemia	Respiratory distress, Pneumonia, Oral ulcer, Cough, Pleural effusion	ORPHA:3392
Kikuchi-Fujimoto Disease	Enlargement of parotid gland, Pleural effusion, Abnormality of the gastrointestinal tract, Oral u...	ORPHA:50918
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Cerebellar atrophy, Dystonia, Microcephaly, Hypotonia, Seizure, Generalized hypotonia, Brain atro...	OMIM:614739
Orofaciodigital Syndrome Iv	Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue...	OMIM:258860
Pachyonychia Congenita	Respiratory distress, Natal tooth, Angular cheilitis, Advanced eruption of teeth, Oral leukoplakia	ORPHA:2309
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Cleft upper lip, Orofacial cleft, Wide mouth, Chorioretinal coloboma, L...	OMIM:243310
Huntington Disease-Like 2	Rigidity, Action tremor, Cerebral cortical atrophy, Dystonia	OMIM:606438
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Optic nerve hypoplasia	OMIM:620029
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lewy bodies, Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Lateral ven...	OMIM:607485
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Macrodontia, Aplasia/Hypoplasia of ...	ORPHA:193
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Retinopathy, Cleft palate, Long philtrum	ORPHA:2505
Buratti-Harel Syndrome	Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Bifid uvula	OMIM:619314
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular sys...	OMIM:300166
Developmental And Epileptic Encephalopathy 86	Dystonia, Myoclonic seizure, Generalized hypotonia, Microcephaly	OMIM:618910
Igg4-Related Ophthalmic Disease	Sinusitis, Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Colon cance...	ORPHA:449563
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ...	ORPHA:329971
Fanconi Anemia, Complementation Group R	Microphthalmia, Anal atresia, Agenesis of permanent teeth	OMIM:617244
Familial Dysautonomia	Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrop...	ORPHA:1764
Autosomal Recessive Spastic Paraplegia Type 26	Lower limb spasticity, Pseudobulbar paralysis, Dystonia, Hyperintensity of cerebral white matter ...	ORPHA:101006
Msh3-Related Attenuated Familial Adenomatous Polyposis	Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop...	ORPHA:480536
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia	OMIM:606763
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Tongue thrusting, EEG with focal epileptiform discharges, EEG abnormali...	ORPHA:98795
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Aggressive behavior, Scissor gait, Dysmetria, Facial diplegia, Attention d...	OMIM:619121
Charge Syndrome	Low-set, posteriorly rotated ears, Facial palsy, Highly arched eyebrow, External ear malformation...	ORPHA:138
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas...	OMIM:175500
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Long philtrum	OMIM:615877
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Marden-Walker Syndrome	High, narrow palate, Pyloric stenosis, Cleft palate, Zollinger-Ellison syndrome, High palate, Nar...	OMIM:248700
Silver-Russell Syndrome 1	Testicular seminoma, Hypospadias, Decreased response to growth hormone stimulation test	OMIM:180860
Developmental And Epileptic Encephalopathy 84	Epileptic spasm, Axial hypotonia, Microcephaly, Opisthotonus, Seizure, Generalized hypotonia, Dys...	OMIM:618792
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Unilateral microphthalmos, Bilateral cleft lip and palate, High palate,...	OMIM:618874
Intellectual Developmental Disorder, Autosomal Dominant 43	Hyperactivity, Impulsivity, Microcephaly, Aggressive behavior, Hypotonia, Seizure, Hypoplasia of ...	OMIM:616977
Dworschak-Punetha Neurodevelopmental Syndrome	Microcephaly, Dysplastic corpus callosum, Seizure, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Central Neurocytoma	Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus	ORPHA:73256
Fanconi Anemia	Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula, Cleft palate, ...	ORPHA:84
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Severe muscular hypotonia, Microcephaly, Seizure, Lateral ventricle dil...	ORPHA:3078
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Xeroderma Pigmentosum, Complementation Group B	Microcephaly, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Microph...	OMIM:610651
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Craniosynostosis, Cryptorchidism, Cleft palate, Narrow palate, Anteriorly p...	ORPHA:1555
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High...	OMIM:220110
Aicardi Syndrome	Intestinal polyposis, Retinal detachment, Abnormality of retinal pigmentation, Hiatus hernia, Cle...	ORPHA:50
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Cowden Syndrome 5	Colonic diverticula, Angioid streaks of the fundus, Furrowed tongue, Hamartomatous polyposis, Hig...	OMIM:615108
Noonan Syndrome 12	Decreased response to growth hormone stimulation test	OMIM:618624
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:604233
Micro Syndrome	Abnormality of retinal pigmentation, Optic atrophy, High palate, Short philtrum, Retinal coloboma...	ORPHA:2510
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio	OMIM:618880
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Dystonia, Agenesis of corpus callosum, Infantile muscular hypotonia, Intention tremor	ORPHA:453521
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primar...	ORPHA:438216
Inhalational Anthrax	Respiratory distress, Dyspnea, Abnormal sweat gland morphology	ORPHA:247257
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa...	ORPHA:79644
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Appendicular spasticity, Axial hypotonia, Microcephaly, Dysplastic corpus callosum, Simplified gy...	OMIM:620001
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Cerebral white matter atrophy, Ventriculomegaly, Bilateral tonic-clonic seizure, Abnormal cortica...	ORPHA:79351
48,Xxyy Syndrome	Ataxia, Tremor, Attention deficit hyperactivity disorder, Chronic otitis media, Abnormal repetiti...	ORPHA:10
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Increased theta frequency activity in EEG, EEG with focal spikes, Attention deficit hyperactivity...	ORPHA:98784
Periventricular Nodular Heterotopia 7	Axial hypotonia, Infantile spasms, Cortical dysplasia, Choroid plexus cyst, Hypotonia, Generalize...	OMIM:617201
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Phthisis bulbi, Chorioretinal...	OMIM:612109
Distal Deletion 17Q	Aplasia/Hypoplasia of the uvula, Optic atrophy, Abnormality of the philtrum, Narrow mouth	ORPHA:1597
Pfeiffer Syndrome Type 3	Respiratory distress, Intestinal malrotation, Cleft palate, High palate, Tracheomalacia, Anal atr...	ORPHA:93260
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Infantile spasms, Microcephaly, Seizure, Colpocephaly, Polymicrogyria	OMIM:618731
Chronic Graft Versus Host Disease	Cough, Dyspnea, Esophageal stricture, Diarrhea, Xerostomia, Bronchiectasis, Pneumothorax, Wheezin...	ORPHA:99921
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Resting tremor, Dystonia, Aggressive behavior, Tremor, Cerebral atrophy, Dysp...	OMIM:615157
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Dystonia, Bilateral tonic-clonic seizure, Cerebral atrophy, Infantile muscular hypotonia	ORPHA:457205
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Axial hypotonia, Impulsivity, Infantile spasms, Interhypothalamic adhesion, Self-injurious behavi...	OMIM:618929
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v...	OMIM:618106
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Tonic seizure, Hypotoni...	OMIM:620075
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Cerebellar vermis hypoplasia, Optic atrophy	OMIM:612379
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Williams-Beuren Region Duplication Syndrome	Cryptorchidism, Decreased response to growth hormone stimulation test	OMIM:609757
Craniosynostosis 6	Cerebellar atrophy, Microcephaly, Hypotonia, Lateral ventricle dilatation, Spina bifida occulta, ...	OMIM:616602
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Curly hair, Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Compulsive be...	OMIM:300986
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Macroglossia, Goiter	ORPHA:226313
Harel-Yoon Syndrome	Cerebellar atrophy, Axial hypotonia, Hypotonia, Generalized non-motor (absence) seizure, Dystonia...	OMIM:617183
Phelan-Mcdermid Syndrome	Broad-based gait, Impaired pain sensation, Hypoplastic toenails, Abnormal repetitive mannerisms, ...	OMIM:606232
Myotonic Dystrophy 1	Respiratory distress, Cholelithiasis, Testicular atrophy, Dysphagia	OMIM:160900
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Absent uvula	OMIM:616531
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Macroorchidism, Pituitary hypothyroidism, Decreased ...	ORPHA:90674
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu...	ORPHA:54595
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Hyperactivity, Axial hypotonia, Dystonia, Spastic tetraparesis, Impulsivity, ...	ORPHA:35069
Joubert Syndrome 14	Tented upper lip vermilion, Morning glory anomaly, Optic atrophy, Cleft palate, Short philtrum, M...	OMIM:614424
Abcd Syndrome	Neonatal death, Aganglionic megacolon, Hypopigmentation of the fundus, Total intestinal aganglion...	OMIM:600501
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor, Gastroesophageal reflux	OMIM:615595
Tetanus	Respiratory distress, Tachypnea, Bowel incontinence, Dysphagia	ORPHA:3299
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Esophageal atresia, Respiratory insufficiency, Ectopic anus, Bifid tongue, Anal atresia	ORPHA:93271
Allan-Herndon-Dudley Syndrome	Axial hypotonia, Dystonia, Microcephaly, Spastic tetraplegia, Choreoathetosis, Seizure, Brain atr...	ORPHA:59
Meckel Syndrome, Type 4	Microphthalmia, Cleft palate	OMIM:611134
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Esophageal varix, Neonatal death	OMIM:263200
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
9q subtelomeric deletion syndrome	Protruding tongue	DECIPHER:52
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia	OMIM:314300
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Progressive spastic parapares...	ORPHA:35689
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Cryptorchidism, Pierre-Robin sequence, Cleft...	OMIM:217980
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Kindler Syndrome	Anal stenosis, Esophageal stenosis, Carious teeth, Gingivitis, Periodontitis, Dysphagia, Oral leu...	OMIM:173650
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Se...	OMIM:604292
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Cleft lip, Cleft palate, Downturned corners of mouth, Everted lower lip vermilion, Narrow mouth, ...	OMIM:618089
Galloway-Mowat Syndrome 6	Cerebellar atrophy, Decreased response to growth hormone stimulation test, Microcephaly, Seizure,...	OMIM:618347
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Axial hypotonia, Rigidity, Truncal titubation, Abnormal basal ganglia morphology, Opisthotonus, C...	OMIM:607483
Reynolds Syndrome	Skin rash, Abnormal gastric mucosa morphology, Xerostomia, Arthritis, Keratoconjunctivitis sicca,...	ORPHA:779
Myopathy, Centronuclear, 5	High palate, Bifid uvula, Narrow mouth	OMIM:615959
Myopathy, Centronuclear, X-Linked	Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Cryptorchidism...	OMIM:310400
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper...	OMIM:608670
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Generalized dystonia, Hypotonia, Seizure, Abnormal cerebral morphology, Generalized hypotonia, Dy...	ORPHA:70472
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Carious teeth, Death in childhood, Thin vermilion border, Long philtru...	OMIM:214150
Hypoglossia-Hypodactyly Syndrome	Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, H...	ORPHA:989
Fryns Syndrome	Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Non-...	ORPHA:2059
Cree Mental Retardation Syndrome	Cleft soft palate	OMIM:606851
Dihydrolipoamide Dehydrogenase Deficiency	Seizure, Dystonia, Hypotonia, Microcephaly	OMIM:246900
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia...	OMIM:609049
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Abnormal dental enamel morp...	ORPHA:2556
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebellar vermis hypoplasia, Retinal dystrophy, Buphthalmos, Hypoplasia of the corpus callosum, ...	OMIM:616538
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtrum, Everted l...	OMIM:616449
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a...	OMIM:129900
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Choreoathetosis, Spastic paraplegia, Bilateral tonic-clonic seizure, Dystonia	ORPHA:53583
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence...	ORPHA:364577
Macrocephaly-Developmental Delay Syndrome	Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with...	ORPHA:397612
Ritscher-Schinzel Syndrome 3	Microphthalmia, Thin upper lip vermilion, Chorioretinal coloboma, Death in infancy	OMIM:619135
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Microcephaly, Axonal degeneration, Subependymal cysts, Seizure, Generalized h...	OMIM:616811
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Cerebellar atrophy, Axial hypotonia, Dystonia, Corpus callosum atrophy, Cerebral atrophy, Seizure...	OMIM:616875
African Trypanosomiasis	Abnormality of the menstrual cycle, Abnormality of the endocrine system, Abnormality of renin-ang...	ORPHA:3385
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Wide mouth, Microphthalmia, Short philtrum, Death in infancy	ORPHA:163966
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Aggressive behavior, Tremor, Dysphagia, Hypertonia, Dystonia, Global brain at...	OMIM:619738
Vertebral Hypersegmentation And Orofacial Anomalies	Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip	OMIM:619122
Rolandic Epilepsy	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei...	ORPHA:1945
Choanal Atresia	Subglottic stenosis, Respiratory distress, Craniosynostosis, Upper airway obstruction, Tracheomal...	ORPHA:137914
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Cleft lip, Cleft palate, Neonatal deat...	OMIM:617925
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Infantile spasms, Spastic tetraparesis, Syringomyelia, Dystonia, Cerebral cortical atrophy	ORPHA:404451
Penile Agenesis	Anorectal anomaly, Tracheoesophageal fistula, Anal atresia, Rectal fistula	ORPHA:49
Early Infantile Epileptic Encephalopathy	Diffuse cerebral atrophy, Tremor, Diffuse white matter abnormalities, Choreoathetosis, Pachygyria...	ORPHA:1934
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Axial hypotonia, Hypotonia, Choreoathetosis, Myoclonus, Dystonia, Limb hypertonia	OMIM:606703
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Optic nerve hypoplasia	ORPHA:221139
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ...	ORPHA:449291
Mandibuloacral Dysplasia	Dental crowding, Abnormally large globe, Abnormal tongue morphology, Hypoplasia of teeth, High pa...	ORPHA:2457
Congenital Fibrosis Of Extraocular Muscles	Optic nerve hypoplasia	ORPHA:45358
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Exaggerated cupid's bow, Cleft lip, Deep philtrum, Cleft palate, Short philtrum, Thick vermilion ...	OMIM:620098
Chromosome 8Q21.11 Deletion Syndrome	Exaggerated cupid's bow, Cleft palate, Downturned corners of mouth, Pigmentary retinopathy, High ...	OMIM:614230
Steinfeld Syndrome	Microphthalmia, Retinal coloboma, Bifid uvula, Median cleft lip and palate	OMIM:184705
Microphthalmia With Limb Anomalies	Death in infancy, Macrodontia, Cleft upper lip, Optic atrophy, Cleft palate, Thin vermilion borde...	ORPHA:1106
Congenital Fibrinogen Deficiency	Microphthalmia, Volvulus, Gingival bleeding	ORPHA:335
Heart And Brain Malformation Syndrome	Cleft lip, High, narrow palate, Thick lower lip vermilion, Everted lower lip vermilion, Gastroeso...	OMIM:616920
Ataxia-Telangiectasia-Like Disorder	Cerebellar atrophy, Dilated fourth ventricle, Myoclonus, Generalized hypotonia, Dystonia, Intenti...	ORPHA:251347
Afibrinogenemia, Congenital	Death in infancy, Epistaxis, Hematemesis, Death in adolescence, Gingival bleeding, Death in child...	OMIM:202400
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Bowel incontinence, Respiratory failure, Gastroesophageal re...	OMIM:616482
Proboscis Lateralis	Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia	ORPHA:141099
Episodic Kinesigenic Dyskinesia 2	Dystonia	OMIM:611031
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Agenesis of corpus callosum, Optic nerve hypoplasia, Microcephaly	OMIM:301043
W Syndrome	Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit	ORPHA:2804
Mitochondrial Complex I Deficiency, Nuclear Type 8	Axial dystonia, Dysphagia, Generalized hypotonia, Dystonia	OMIM:618230
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Smith-Magenis Syndrome	Impaired pain sensation, Synophrys, Self-injurious behavior, EEG abnormality, Gait disturbance, A...	ORPHA:819
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Dysphagia	ORPHA:600
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Impulsivity, Tr...	OMIM:614298
Cowden Syndrome 6	Colonic diverticula, Angioid streaks of the fundus, Furrowed tongue, Hamartomatous polyposis, Hig...	OMIM:615109
Joubert Syndrome 18	Lobulated tongue, Cleft palate	OMIM:614815
Tarp Syndrome	Optic atrophy, Cleft palate, Tongue nodules, Glossoptosis, High palate, Neonatal death, Meckel di...	OMIM:311900
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Posterior pituitary hypoplasia, Abnormality of the anterior pituitary	ORPHA:75389
Mitochondrial Complex I Deficiency, Nuclear Type 33	Axial hypotonia, Reduced cerebral white matter volume, Craniofacial dystonia, Simplified gyral pa...	OMIM:618253
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip...	OMIM:616367
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Cerebellar hypoplasia	OMIM:618805
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil...	OMIM:617924
Maternal Uniparental Disomy Of Chromosome 2	Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te...	ORPHA:96179
Familial Dyskinesia And Facial Myokymia	Resting tremor, Axial hypotonia, Myoclonus, Dystonia, Limb hypertonia	ORPHA:324588
Snijders Blok-Campeau Syndrome	Broad-based gait, Unsteady gait, Low-set ears, Attention deficit hyperactivity disorder, Abnormal...	OMIM:618205
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Dental malocclusion, Optic atrophy, Oligodontia, Mic...	OMIM:618727
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis	ORPHA:2221
Myoclonic Epilepsy Of Unverricht And Lundborg	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus	OMIM:254800
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Olivopont...	ORPHA:457284
Amish Lethal Microcephaly	Cleft soft palate	ORPHA:99742
Fraser Syndrome	Death in infancy, Anal stenosis, Anophthalmia, Dental crowding, Cleft upper lip, Dental malocclus...	ORPHA:2052
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Death in child...	OMIM:612938
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Cleft lip, Pyloric st...	OMIM:619148
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydramnios, Perior...	OMIM:616843
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Con...	ORPHA:220460
Sandestig-Stefanova Syndrome	Microphthalmia, High palate, Orofacial cleft	OMIM:618804
Slc35A2-Cdg	Cerebellar atrophy, Cerebral white matter atrophy, Axial hypotonia, Spastic tetraparesis, Microce...	ORPHA:356961
Liver Disease, Severe Congenital	Chronic gastritis, Pulmonary edema, Hypospadias, Eczema, Pneumonia, Biliary hyperplasia, Abnormal...	OMIM:619991
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Hypogonadotropic hypogonadism, Amenorrhea, Infertility, Erectile dysfunction, ...	ORPHA:465508
9P13 Microdeletion Syndrome	Hyperconvex nail, Highly arched eyebrow, Abnormality of cartilage of external ear, Hypoplastic to...	ORPHA:324313
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Self-mutilation	OMIM:300486
Myopathy With Extrapyramidal Signs	Hyperactivity, Hypoplastic anterior limbs of the internal capsule, Tremor, Microcephaly, Perisylv...	OMIM:615673
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology	ORPHA:234
Trisomy 18P	Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Thin vermilion border, Narrow mouth	ORPHA:1715
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Classic Homocystinuria	Gastrointestinal hemorrhage, Dental crowding, Pulmonary embolism, Kyphosis, Esophageal varix, Gen...	ORPHA:394
Neurooculocardiogenitourinary Syndrome	Downturned corners of mouth, Microphthalmia, Smooth philtrum	OMIM:618652
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Hypospadias, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Con...	OMIM:618336
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia, Microcephaly	OMIM:619321
Intellectual Developmental Disorder With Seizures And Language Delay	Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure	OMIM:619000
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Gastroeso...	OMIM:618426
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnorm...	OMIM:616393
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Abnormality of the dentition, Hip dislocation, Cleft palate, Scoliosis, Lon...	OMIM:300968
Mpdu1-Cdg	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation test	ORPHA:79323
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insufficiency, Decrea...	ORPHA:199299
Cholestasis, Progressive Familial Intrahepatic, 8	Esophageal varix	OMIM:619662
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Thick vermilion border, Cleft palate	ORPHA:250999
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Anteriorly placed anus, Microphthalmia, Ocular albinism, Anal atresia	ORPHA:1352
Proximal 16P11.2 Microdeletion Syndrome	Sensorineural hearing impairment, Choreoathetosis, Attention deficit hyperactivity disorder, Dyst...	ORPHA:261197
Dyskeratosis Congenita, Autosomal Recessive 1	Carious teeth, Esophageal stricture, Microdontia, Pterygium, Oral leukoplakia	OMIM:224230
Huntington Disease-Like 3	Caudate atrophy, Spasticity, Seizure, Dystonia, Frontal cortical atrophy	OMIM:604802
Aicardi-Goutieres Syndrome 9	Cerebral calcification, Axial hypotonia, Spastic tetraparesis, Microcephaly, Basal ganglia calcif...	OMIM:619487
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Optic atrophy, Secondary microcephaly, Hypoplasia of t...	OMIM:615663
Hyperinsulinism-Hyperammonemia Syndrome	Generalized-onset seizure, Generalized non-motor (absence) seizure, Attention deficit hyperactivi...	ORPHA:35878
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Ataxia, Sparse eyebrow, Optic atrophy, Dysphagia, Dystonia, Macrotia, Abnormal repetitive manneri...	ORPHA:496641
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Thin upper lip vermilion, Death in infancy, Tented upper lip vermilion, Bilateral cleft lip, Deep...	OMIM:618622
Spastic Paraplegia 80, Autosomal Dominant	Lower limb spasticity, Spastic paraplegia, Upper limb spasticity, Dystonia	OMIM:618418
Frontofacionasal Dysplasia	Microphthalmia, Non-midline cleft lip, Cleft palate	ORPHA:1791
Huntington Disease-Like 3	Abnormal head movements, Broad-based gait, Chorea, Progressive gait ataxia, Dystonia	ORPHA:157946
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Dystonia, Microcephaly, Simplified gyral pattern, Hypotonia, Abnormal cerebral white matter morph...	OMIM:614407
Jaberi-Elahi Syndrome	Appendicular spasticity, Bilateral tonic-clonic seizure, Microcephaly, Tremor, Globus pallidus hy...	OMIM:617988
Cadds	Cerebellar atrophy, Abnormal cerebral white matter morphology, Seizure, Dystonia, Ventriculomegaly	ORPHA:369942
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li...	ORPHA:1071
Facial Spasm	Anisocoria	OMIM:134300
Ermine Phenotype	Hypopigmentation of hair, Sensorineural hearing impairment, Ocular albinism, Hypopigmented skin p...	ORPHA:999
Intellectual Developmental Disorder, Autosomal Dominant 42	Myoclonic seizure, Limb dystonia, Infantile axial hypotonia, Tonic seizure, Focal hemiclonic seiz...	OMIM:616973
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Hartnup Disease	Glossitis, Gingivitis, Malabsorption	ORPHA:2116
Charge Syndrome	Anal stenosis, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Dysphagia, Anal atres...	OMIM:214800
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Cerebellar atrophy, Dystonia, Globus pallidus hypointensity on susceptibility-weighted imaging, S...	OMIM:618868
Diaphanospondylodysostosis	Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b...	OMIM:608022
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Generalized-onset seizure, Infantile spasms, Hypotonia, Abnormal basal ganglia morphology, Cerebr...	OMIM:612073
Congenital Enterocyte Heparan Sulfate Deficiency	Edema, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy	ORPHA:103910
Congenital Disorder Of Glycosylation, Type Id	Villous atrophy, Optic atrophy, High palate, Bifid uvula	OMIM:601110
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal repetitive mannerisms	ORPHA:530983
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test	OMIM:606407
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Dystonia, Anorexia, Infantile spasms, Tremor, Generalized clonic s...	ORPHA:3008
Arthrogryposis, Distal, Type 3	Submucous cleft hard palate, High palate, Bifid uvula, Cleft palate	OMIM:114300
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test	ORPHA:436174
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete cleft of the upper lip, Lob...	OMIM:616300
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Hypodontia, Scoliosis	ORPHA:544503
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Seizure, Microcephaly, Generalized non-motor (absence) seizure, Primary microcephaly	OMIM:616033
Parkinson Disease 6, Autosomal Recessive Early-Onset	Rigidity, Resting tremor, Dystonia	OMIM:605909
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Bupht...	ORPHA:495875
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Glossoptosis, Cleft palate	OMIM:618356
Arterial Tortuosity Syndrome	Respiratory distress, Craniosynostosis, Hiatus hernia, Pyloric stenosis, Dyspnea, Hip dislocation...	ORPHA:3342
Rett Syndrome	Inability to walk, EEG abnormality, Gait disturbance, Abnormal autonomic nervous system physiolog...	ORPHA:778
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Hypotonia, Se...	OMIM:615219
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Cerebral calcification, Abnormal conus terminalis morphology, Abnormal basal ganglia morphology, ...	ORPHA:464321
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Severe muscular hypotonia, Type II lissencephaly, Hydrocephalus, Lateral ventri...	OMIM:613154
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypopituitarism, Hypothyroidism	OMIM:619013
Developmental And Epileptic Encephalopathy 100	Myoclonic seizure, Choreoathetosis, Pachygyria, Abnormal repetitive mannerisms, Tonic seizure, Ty...	OMIM:619777
Kufor-Rakeb Syndrome	Torticollis, Aggressive behavior, Tremor, Rigidity, Spastic paraplegia, Dysphagia, Seizure, Hyper...	OMIM:606693
Houge-Janssens Syndrome 1	Pyloric stenosis, Open mouth, Congenital hip dislocation, Scoliosis	OMIM:616355
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Frontal cortical atrophy, Temporal cortical atrophy, Brain atrophy, Dystonia	OMIM:167320
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Siddiqi Syndrome	Seizure, Limb dystonia	OMIM:618635
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agene...	OMIM:619103
Charcot-Marie-Tooth Disease, Type 4C	Tongue atrophy, Tongue fasciculations	OMIM:601596
Parkinsonism-Dystonia 2, Infantile-Onset	Axial hypotonia, Oculogyric crisis, Tremor, Hypotonia, Dystonia	OMIM:618049
Alzheimer Disease 3	Dystonia, Spastic tetraparesis, Neurofibrillary tangles, Seizure, Myoclonus, Dysphagia, Cerebral ...	OMIM:607822
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,...	OMIM:200990
22Q11.2 Duplication Syndrome	Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno...	ORPHA:1727
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Hypotonia, Head-banging, Self-injurious behavior, Lateral ventricle dilatation, Se...	OMIM:619575
Coach Syndrome 1	Wide mouth, Esophageal varix	OMIM:216360
Developmental And Epileptic Encephalopathy 80	Optic disc pallor, Death in infancy, Tented upper lip vermilion, Protruding tongue, Wide mouth, H...	OMIM:618580
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Hyperactivity, Impulsivity, Neurofibrillary tangles, Cerebral atrophy, Dyspha...	OMIM:610217
Rodrigues Blindness	Microphthalmia, Tooth malposition	OMIM:268320
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Megalocornea-Intellectual Disability Syndrome	Ataxia, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Abnormal repetitive ma...	ORPHA:2479
Spinocerebellar Ataxia Type 11	Dysphagia, Dystonia	ORPHA:98767
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Joubert Syndrome 37	Microphthalmia, High palate	OMIM:619185
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Natal tooth, Craniosynostosis, Gingival overgrowth, Narrow palate, Anterior...	OMIM:123790
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Optic nerve hypoplasia, Dandy-Walker malformation	OMIM:617506
Rauch-Steindl Syndrome	Attached earlobe, Hyperactivity, Highly arched eyebrow, Aggressive behavior, Prominent crus of he...	OMIM:619695
Melkersson-Rosenthal Syndrome	Macroglossia, Cheilitis, Furrowed tongue	ORPHA:2483
Wildervanck Syndrome	Lens subluxation, Pseudopapilledema, Facial palsy	ORPHA:3456
Gaucher Disease, Perinatal Lethal	Respiratory distress, Everted upper lip vermilion, Apnea, Narrow mouth, Everted lower lip vermili...	OMIM:608013
Tetraamelia Syndrome 2	Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate	OMIM:618021
Plaa-Associated Neurodevelopmental Disorder	Cerebral white matter atrophy, Exaggerated startle response, Abnormal cortical gyration, Microcep...	ORPHA:521426
Stickler Syndrome, Type I	Retinal detachment, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, Vitreoretin...	OMIM:108300
Duane Retraction Syndrome	Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology, Microcornea, Hypoplastic...	ORPHA:233
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Momo Syndrome	Delayed eruption of teeth, Bilateral microphthalmos, Thick lower lip vermilion, Dental malocclusi...	ORPHA:2563
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Retinal arteriolar constriction, Optic atrophy	OMIM:249660
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Gait ...	OMIM:300352
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Dystonia, Episodic generalized hypotonia, Hypotonia, Seizure, Arm dystonia, Dysphagia	OMIM:601338
Kleefstra Syndrome Due To 9Q34 Microdeletion	Epileptic spasm, Absent septum pellucidum, Microcephaly, Hypotonia, Generalized non-motor (absenc...	ORPHA:96147
Sacral Agenesis With Vertebral Anomalies	Vertebral clefting, Neonatal death, Abnormal vertebral morphology, Anal atresia, Persistent cloaca	OMIM:615709
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue atrophy, Tongue fasciculations	OMIM:620285
Combined Oxidative Phosphorylation Deficiency 57	Reduced cerebral white matter volume, Hypotonia, Cerebral atrophy, Seizure, Secondary microcephal...	OMIM:620167
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology, Gastrointestinal dysmotility	ORPHA:531151
Autosomal Dominant Centronuclear Myopathy	Miscarriage, Respiratory insufficiency due to muscle weakness, Cryptorchidism, Pyloric stenosis, ...	ORPHA:169189
Presynaptic Congenital Myasthenic Syndromes	Congenital hip dislocation, Sudden episodic apnea, Kyphoscoliosis, Intermittent episodes of respi...	ORPHA:98914
Congenital Myasthenic Syndrome	Congenital hip dislocation, Sudden episodic apnea, Kyphoscoliosis, Intermittent episodes of respi...	ORPHA:590
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Vomiting, Hypoxemia	ORPHA:464453
Skin Creases, Congenital Symmetric Circumferential, 1	Narrow mouth, Cleft palate, High palate, Long philtrum, Microphthalmia	OMIM:156610
Filippi Syndrome	Cerebellar atrophy, Seizure, Dystonia, Microcephaly	OMIM:272440
Otospondylomegaepiphyseal Dysplasia	Retinal detachment, Cleft palate, Glossoptosis, Degenerative vitreoretinopathy, Bifid uvula	ORPHA:1427
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Supernumerary nipple, Aggressive behavior, Unsteady gait, Low-set ears, Hypoplastic fifth...	ORPHA:457279
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Pallidal degeneration, Dysphagia, Eye of the tiger anomaly of globus pallidus, Dystonia, Spasticity	OMIM:607236
Childhood Absence Epilepsy	Punding, EEG with spike-wave complexes (2.5-3.5 Hz), Attention deficit hyperactivity disorder, Je...	ORPHA:64280
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Esophageal varix	ORPHA:974
Warburg Micro Syndrome 3	Downturned corners of mouth, Microphthalmia, Optic atrophy, Narrow palate	OMIM:614222
Manganese Poisoning	Postural tremor, Aggressive behavior, Abnormal globus pallidus morphology, Hypersexuality, Cogwhe...	ORPHA:306682
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia, Agenesis of corpus callosum	ORPHA:264200
Orofaciodigital Syndrome Type 10	Cleft soft palate, Accessory oral frenulum, Long philtrum	ORPHA:2756
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Cerebellar atrophy, Torticollis, Head titubation, Hypotonia, Limb dystonia, Spasticity	OMIM:617560
8Q21.11 Microdeletion Syndrome	Exaggerated cupid's bow, Abnormality of the dentition, Abnormality of the sense of smell, Downtur...	ORPHA:284160
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Axial dystonia, Microcephaly, Spastic paraplegia, Abnormal cerebral white matter morphology, Seiz...	OMIM:619026
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Microcephaly, Aggressive behavior, Hydrocephalus, Hypotonia, Self-injurious behavior, Colpocephal...	OMIM:619833
Knobloch Syndrome 1	Retinal detachment, Optic disc pallor, Band keratopathy, Chorioretinal atrophy, Developmental cat...	OMIM:267750
Epilepsy, Childhood Absence, Susceptibility To, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:600131
Febrile Seizures, Familial, 8	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:607681
Angelman Syndrome	Hyperactivity, Generalized myoclonic seizure, Cerebral dysmyelination, Microcephaly, Tremor, Aggr...	ORPHA:72
Combined Oxidative Phosphorylation Defect Type 13	Axial hypotonia, Abnormal basal ganglia morphology, Choreoathetosis, Lower limb hypertonia, Gener...	ORPHA:319514
Trisomy 8Q	Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum morphology, Everted ...	ORPHA:1752
Tonne-Kalscheuer Syndrome	Narrow mouth, Velopharyngeal insufficiency, Downturned corners of mouth, Widely spaced teeth, Dys...	OMIM:300978
Rere-Related Neurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Optic atrophy, Hypoplasia of the corpus callosum, Chorioretinal col...	ORPHA:494344
Fatty Acid Hydroxylase-Associated Neurodegeneration	Cerebellar atrophy, Generalized dystonia, Bilateral tonic-clonic seizure, Atrophy of the spinal c...	ORPHA:329308
Machado-Joseph Disease Type 1	Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Dysphagia, Degeneration o...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Dysphagia, Degeneration o...	ORPHA:276241
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Episodic Ataxia, Type 5	Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, Feb...	OMIM:613855
Immunodeficiency 23	Allergic rhinitis, Esophageal stricture, Asthma, Bronchiectasis, High palate, Scoliosis	OMIM:615816
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, O...	OMIM:609033
Combined Oxidative Phosphorylation Deficiency 12	Axial hypotonia, Spastic tetraparesis, Dysplastic corpus callosum, Hypotonia, Leukoencephalopathy...	OMIM:614924
Marshall-Smith Syndrome	Optic nerve hypoplasia, Cerebral atrophy, Cerebellar hypoplasia, Hypoplasia of the corpus callosu...	OMIM:602535
Oligodontia-Colorectal Cancer Syndrome	Fundic gland polyposis, Oligodontia, Adenomatous colonic polyposis, Colon cancer	OMIM:608615
Magel2-Related Prader-Willi-Like Syndrome	Premature pubarche, Small scrotum, External genital hypoplasia, Precocious puberty, Cryptorchidis...	ORPHA:398069
Pseudo-Torch Syndrome 1	Cerebral calcification, Axial hypotonia, Microcephaly, Hypotonia, Seizure, Lissencephaly, Dystoni...	OMIM:251290
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Micropenis, Pituitary hypothyroidism, Anterior pituitary hypoplasia	OMIM:619983
Refsum Disease	Retinopathy, Microphthalmia, Abnormality of retinal pigmentation	ORPHA:773
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency, Submucous cleft h...	OMIM:614701
Intellectual Disability-Strabismus Syndrome	Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s...	ORPHA:363528
Stt3B-Cdg	Respiratory distress, Cryptorchidism	ORPHA:370924
Trichothiodystrophy 4, Nonphotosensitive	Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy, Microphthalmia, Cerebral co...	OMIM:234050
Kleefstra Syndrome 1	Abnormal pinna morphology, Aggressive behavior, Synophrys, Compulsive behaviors, Abnormal repetit...	OMIM:610253
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Genu recurvatum, Aplasia/Hypoplasia of the patella, Elbow...	OMIM:224690
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Hyperton...	OMIM:618914
Papillorenal Syndrome	Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio...	OMIM:120330
Classic Phenylketonuria	Self-injurious behavior, Hypopigmentation of hair, Hypopigmentation of the skin, Attention defici...	ORPHA:79254
Spastic Paraplegia 26, Autosomal Recessive	Lower limb spasticity, Spastic paraplegia, Upper limb spasticity, Cerebral cortical atrophy, Dyst...	OMIM:609195
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy, Cognitive impairment	ORPHA:141
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
3Q29 Microdeletion Syndrome	Dental crowding, Abnormality of the dentition, Orofacial cleft, High palate, Short philtrum, Ever...	ORPHA:65286
Halperin-Birk Syndrome	Generalized-onset seizure, Focal-onset seizure, Spastic tetraplegia, Colpocephaly, Hypertonia, Ps...	OMIM:618651
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Microglossia, Cleft palate, Retinal coloboma, Thick anterior alveolar r...	ORPHA:2839
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Nipah Virus Disease	Respiratory distress, Cough	ORPHA:99825
Revesz Syndrome	Exudative retinopathy, Megalocornea, Leukocoria, Progressive neurologic deterioration	OMIM:268130
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Neurona...	ORPHA:275872
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia	ORPHA:99657
Pai Syndrome	Median cleft lip, Bifid uvula, Cleft palate, Abnormal oral frenulum morphology	ORPHA:1993
Nephrotic Syndrome, Type 1	Pyloric stenosis, Neonatal respiratory distress, Gastroesophageal reflux	OMIM:256300
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Axial hypotonia, Microcephaly, Seizure, Dystonia, Spasticity, Cerebellar vermis atrophy, Limb hyp...	OMIM:618087
Hereditary Hemorrhagic Telangiectasia	Intestinal polyposis, Gastrointestinal hemorrhage, Epistaxis, Pulmonary embolism, Esophageal vari...	ORPHA:774
15Q24 Microdeletion Syndrome	Cryptorchidism, Microphallus, Hypospadias, Decreased response to growth hormone stimulation test	ORPHA:94065
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Synophrys, Hypopigm...	ORPHA:3440
Combined Oxidative Phosphorylation Deficiency 13	Choreoathetosis, Axial hypotonia, Severe muscular hypotonia, Dystonia	OMIM:614932
Pantothenate Kinase-Associated Neurodegeneration	Pallidal degeneration, Dystonia, Impulsivity, Rigidity, Leg dystonia, Choreoathetosis, Seizure, I...	ORPHA:157850
Acromelic Frontonasal Dysplasia	Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia	ORPHA:1827
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing...	OMIM:610706
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Protruding tongue, Optic atrophy, Gingival overgrowth, Yellow/white lesi...	ORPHA:93400
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Hand tremor, Myoclonus, Head tremor, Dystonia	OMIM:619724
Burn-Mckeown Syndrome	Cleft upper lip, Cleft palate, Thin vermilion border, Short philtrum, Narrow mouth, Bifid uvula	OMIM:608572
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Abnormality of the dentition, Broad philtrum, Conical tooth	ORPHA:228390
Down Syndrome	Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion...	ORPHA:870
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Downturned corners of mouth, Macroglossia, Wide mouth, High palate, Wid...	ORPHA:369891
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Choreoathetosis, Seizure, Generalized hypotonia, Dystonia	OMIM:618416
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Pyloric stenosis	OMIM:617219
Spinocerebellar Ataxia 28	Cerebellar atrophy, Lower limb hypertonia, Spasticity, Dystonia	OMIM:610246
Caribbean Parkinsonism	T2 hypointense basal ganglia, Rigidity, Myoclonus, Dystonia, Lewy bodies, Midline brain calcifica...	ORPHA:97355
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Microcephaly, Abnormal optic nerve morphology, Hypoplasia of the corpus c...	ORPHA:352665
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Microcephaly, Abnormal optic nerve morphology, Hypoplasia of the corpus c...	ORPHA:453504
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Abnormal location of the eyebrow, Ataxia, Repetitive compulsive behavior, Widow's peak, Chorea, E...	ORPHA:522077
Warburg Micro Syndrome 2	Microcephaly, Optic atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Microphth...	OMIM:614225
Brain Dopamine-Serotonin Vesicular Transport Disease	Axial hypotonia, Dystonia, Oculogyric crisis, Spastic tetraparesis, Tremor, Hypertonia, Secondary...	ORPHA:352649
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Short philtrum, Abnormal retinal morphology, Death in childhood	OMIM:610758
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Microcephaly, Seizure, Hypoplasia of the corpus callosum, Dystonia, Neonatal ...	OMIM:618186
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure, Long philtrum	OMIM:617895
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Hypoplasia of the pyramidal tract, Optic atrophy, Hypoplasia of the brainstem...	OMIM:253800
Acrofrontofacionasal Dysostosis 1	Cleft upper lip, Optic atrophy, Cleft palate, Wide mouth, Oligodontia, Microphthalmia	OMIM:201180
Dystonia 26, Myoclonic	Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia	OMIM:616398
Nephronophthisis 11	Anisocoria, Retinal degeneration	OMIM:613550
Subaortic Stenosis-Short Stature Syndrome	Microdontia, Microphthalmia	ORPHA:3191
Mohr-Tranebjaerg Syndrome	Tremor, Spasticity, Dysphagia, Dystonia	OMIM:304700
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Short philtrum, Cleft soft palate, Smooth philtrum	ORPHA:293725
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Severe muscular hypotonia, Bilateral tonic-clonic seizure, Microcephaly, Hypotonia, Generalized n...	OMIM:614207
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms, Long eyelashes, Broad eyebrow	OMIM:617682
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms, Thick eyebrow	ORPHA:529965
Fraser Syndrome 1	Abnormal small intestine morphology, Anophthalmia, Dental crowding, Cleft upper lip, Bilateral mi...	OMIM:219000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Episodic tachypnea, Pneumonia, Tachypnea, Anteriorly placed anus, Vomiting	ORPHA:26793
Optic Atrophy 8	Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials	OMIM:616648
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Multiple joint dislocation, High palate, Microdontia, Repeated pneumothorac...	ORPHA:536467
Spondylodysplastic Ehlers-Danlos Syndrome	Agenesis of pineal gland, Optic disc coloboma, Optic nerve hypoplasia	ORPHA:536471
Pitt-Hopkins Syndrome	Hyperconvex nail, Supernumerary nipple, Cupped ear, Gait ataxia, Self-injurious behavior, Frontal...	OMIM:610954
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Tremor, Dysphagia, Hypoplasia of the corpus callosum, Dystonia, Spasticity, T...	OMIM:614381
Focal Dermal Hypoplasia	Delayed eruption of teeth, Anophthalmia, Intestinal malrotation, Cleft upper lip, Hiatus hernia, ...	OMIM:305600
Mitochondrial Membrane Protein-Associated Neurodegeneration	Abnormal substantia nigra morphology, Dystonia, Rigidity, Abnormal globus pallidus morphology, Ha...	ORPHA:289560
Townes-Brocks Syndrome 1	Anal stenosis, Rectoperineal fistula, Tracheoesophageal fistula, Gastroesophageal reflux, Rectova...	OMIM:107480
Microphthalmia, Syndromic 9	Neonatal death, Anophthalmia, Bilateral microphthalmos	OMIM:601186
Leigh Syndrome	Hypotonia, Seizure, Generalized hypotonia, Dystonia, Focal substantia nigra T2 hyperintensity, Sp...	OMIM:256000
Neuronal Intranuclear Inclusion Disease	Dementia, Optic atrophy	ORPHA:2289
Rett Syndrome	Dystonia, Seizure, Secondary microcephaly, Bruxism, Spasticity, Cerebral cortical atrophy, Stereo...	OMIM:312750
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth	OMIM:615065
2Q37 Microdeletion Syndrome	Sparse scalp hair, Supernumerary nipple, Highly arched eyebrow, Sparse eyebrow, Compulsive behavi...	ORPHA:1001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Death in infancy, Cleft upper lip, Cleft palate, Buphthalmos, Macroglossia, Microphthalmia	OMIM:613150
Immunodeficiency, Common Variable, 10	Frequent Giardia lamblia infestation, Decreased response to growth hormone stimulation test, Pylo...	OMIM:615577
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula...	OMIM:619708
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis, Episodic vomiting, ...	ORPHA:330021
Null Syndrome	Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri...	ORPHA:280234
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Blepharospasm, Oromandibular dystonia	OMIM:602124
Charcot-Marie-Tooth Disease Type 4B2	Buphthalmos, Difficulty in tongue movements, Tongue atrophy, Optic atrophy	ORPHA:99956
Spastic Paraplegia 53, Autosomal Recessive	Lower limb hypertonia, Spastic paraplegia, Upper limb hypertonia, Dystonia	OMIM:614898
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Bifid uvula, Cleft palate, Cleft upper lip	OMIM:300958
Alstrom Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i...	OMIM:203800
Duplication Of The Pituitary Gland	Encephalocele, Lower limb spasticity, Microcephaly, Abnormal pituitary gland morphology, Abnormal...	ORPHA:314621
Kindler Epidermolysis Bullosa	Laryngeal stenosis, Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodac...	ORPHA:2908
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of the diencephalon, Seizure, Hydrocephalus, Hypertonia	ORPHA:2720
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Aggressive behavior, Hypotonia, Cerebral atrophy, Seizure, Lateral ventricle dilata...	ORPHA:464738
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Absence seizure with eyelid myoclonia, Generalized non-motor (absence) seizure, Hypotonia, Cerebr...	OMIM:613839
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Diarrhea, Esophageal varix, Hepatocellular adenoma, Vomiting, Nausea	ORPHA:264580
Hypoglossia-Hypodactylia	Microglossia, Aglossia, Narrow mouth	OMIM:103300
Aicardi-Goutieres Syndrome 1	Intracerebral periventricular calcifications, Axial hypotonia, Microcephaly, Basal ganglia calcif...	OMIM:225750
Nance-Horan Syndrome	Diastema, Mulberry molar, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped inc...	OMIM:302350
Tick-Borne Encephalitis	Somatic sensory dysfunction, Facial palsy, Anorexia, Tremor, Vertigo, Abnormal cranial nerve morp...	ORPHA:297
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations, Dysphagia	OMIM:614153
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Resting tremor, Dilated third ventricle, Cerebral atrophy, Abnormal cerebral ...	ORPHA:314404
Isolated Atp Synthase Deficiency	Cerebellar atrophy, Microcephaly, Spastic paraplegia, Hypotonia, Myoclonic seizure, Seizure, Dyst...	ORPHA:254913
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Glossoptosis, Thin vermili...	ORPHA:1358
Chromosome 15Q11.2 Deletion Syndrome	Ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors, Macrotia, Abnormal repeti...	OMIM:615656
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Viss Syndrome	Chronic gastritis, Polyhydramnios, High, narrow palate, High palate, Gastroesophageal reflux, Bro...	OMIM:619472
Ramos-Arroyo Syndrome	Respiratory distress, Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mou...	ORPHA:1051
Infantile Dystonia-Parkinsonism	Axial hypotonia, Oculogyric crisis, Hypertonia, Dystonia, Limb hypertonia	ORPHA:238455
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Abnormal periventricular white matter morphology, Generalized non-motor (absence) seizure	OMIM:618992
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Dyspnea, Esophageal stricture, Diarrhea, Dysphagia, Restrictive vent...	ORPHA:36426
Spondylometaphyseal Dysplasia, Schmidt Type	Cleft soft palate	ORPHA:93316
Wolfram Syndrome 1	Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy	OMIM:222300
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res...	ORPHA:293978
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus...	OMIM:615582
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Gait dist...	ORPHA:3214
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Diarrhea, Vomiting, Nausea	ORPHA:927
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
16P12.1P12.3 Triplication Syndrome	Bilateral cryptorchidism, Decreased response to growth hormone stimulation test	ORPHA:485405
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Diastema, Thick lower lip vermilion, Downturned corners ...	OMIM:620185
Dilated Cardiomyopathy With Ataxia	Ataxia, Repetitive compulsive behavior, Optic atrophy, Bilateral sensorineural hearing impairment...	ORPHA:66634
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Subcapsular cat...	OMIM:612674
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Hip contracture, Thoracic scoliosis, Tented upper lip vermilion, Dental cro...	OMIM:620369
Microphthalmia, Syndromic 6	Anophthalmia, Retinal dystrophy, Cleft palate, High palate, Microphthalmia, Microglossia, Bifid u...	OMIM:607932
Ear-Patella-Short Stature Syndrome	Respiratory distress, Camptodactyly of finger, Craniosynostosis, Elbow dislocation, High, narrow ...	ORPHA:2554
X-Linked Dystonia-Parkinsonism	Resting tremor, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Impaired oropharyng...	ORPHA:53351
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Microcephaly, Hypotonia, Cerebral atrophy, Dysphagia, Choreoathetosis, Abnorm...	OMIM:615471
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome	Generalized non-motor (absence) seizure	ORPHA:370943
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Hyperactivity, Fair hair, Blue irides	OMIM:614613
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru...	ORPHA:247815
Microcephaly-Micromelia Syndrome	Neonatal death, Microphthalmia, Cleft palate, Narrow mouth	OMIM:251230
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Microcephaly, Spina bifida occulta, Hypotonia, Pica, Generalized non-motor (absence) seizure, Sma...	OMIM:617360
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha...	ORPHA:2751
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp...	ORPHA:85450
Zimmermann-Laband Syndrome	Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior open-bite malocclusion, Macrog...	ORPHA:3473
Dyskeratosis Congenita, Autosomal Dominant 2	Esophageal stricture, Oral leukoplakia, Abnormality of the dentition	OMIM:613989
X-Linked Creatine Transporter Deficiency	Hyperactivity, Microcephaly, Hypotonia, Athetosis, Seizure, Hypertonia, Dystonia, Self-mutilation	ORPHA:52503
Tetrasomy 5P	Respiratory distress, Pulmonary arterial hypertension, High palate, Long philtrum	ORPHA:3309
Atypical Juvenile Parkinsonism	Resting tremor, Rigidity, Seizure, Myoclonus, Brain atrophy, Dystonia	ORPHA:391411
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation, Hypotonia	OMIM:618330
Lethal Faciocardiomelic Dysplasia	Microglossia, Narrow mouth	ORPHA:1972
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Diarrhea, Apnei...	ORPHA:348
Moebius Syndrome	Death in infancy, Aplasia/Hypoplasia of the tongue, Cleft palate, Abnormality of the sense of sme...	ORPHA:570
Microphthalmia, Syndromic 1	Anophthalmia, Dental crowding, Aganglionic megacolon, Cleft upper lip, High, narrow palate, Recta...	OMIM:309800
8Q22.1 Microdeletion Syndrome	Long philtrum, Submucous cleft hard palate, Abnormality of the dentition	ORPHA:178303
Pelizaeus-Merzbacher Disease, Classic Form	Axial hypotonia, Spastic tetraparesis, Confluent hyperintensity of cerebral white matter on MRI, ...	ORPHA:280219
Pontocerebellar Hypoplasia, Type 13	Microcephaly, Lateral ventricle dilatation, Status epilepticus, Generalized hypotonia, Hypoplasia...	OMIM:618606
Cowden Syndrome 1	Colonic diverticula, Angioid streaks of the fundus, Furrowed tongue, Hamartomatous polyposis, Hig...	OMIM:158350
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Hypotonia, Ataxia, And Delayed Development Syndrome	Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Synophrys, Overfolded hel...	OMIM:617330
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Disc-like vertebral bodies, Ovoid vertebral bodies, Flat acetabular roof, W...	OMIM:151210
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Hypotonia, Choreoathetosis, Seizure, Dystonia	ORPHA:79312
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Microcephaly	OMIM:610756
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Proximal Myopathy With Extrapyramidal Signs	Abnormal basal ganglia MRI signal intensity, Resting tremor, Microcephaly, Dystonia, Progressive ...	ORPHA:401768
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o...	ORPHA:649
Episodic Ataxia Type 1	Respiratory distress, Kyphoscoliosis, Scoliosis	ORPHA:37612
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy	OMIM:618165
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Opisthotonus, Seizure, Eye of the tiger anomaly of globus pallidus, Dysphag...	ORPHA:216866
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ...	ORPHA:913
Williams Syndrome	Colonic diverticula, Death in early adulthood, Peptic ulcer, Malabsorption, Abnormal gastric muco...	ORPHA:904
3-Methylglutaconic Aciduria, Type Viia	Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypotonia, Myoclon...	OMIM:619835
Native American Myopathy	Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft palate, Bifid uvula	ORPHA:168572
Limb-Mammary Syndrome	Bifid uvula, Hypodontia, Cleft palate	OMIM:603543
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear	ORPHA:261144
Progressive Supranuclear Palsy	Impulsivity, Tremor, Rigidity, Dysphagia, Blepharospasm, Dystonia, Neuronal loss in central nervo...	ORPHA:683
Frontorhiny	Microphthalmia, Bifid tongue, Cleft palate	ORPHA:391474
Microphthalmia, Lenz Type	Delayed eruption of teeth, Abnormal dental morphology, Abnormality of the dentition, Optic disc c...	ORPHA:568
Autosomal Recessive Spastic Paraplegia Type 78	Cerebellar atrophy, Progressive spastic quadriplegia, Hypoplasia of the corpus callosum, Dystonia...	ORPHA:513436
Acrodysostosis 1 With Or Without Hormone Resistance	Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Irregular menstru...	OMIM:101800
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated tongue, High p...	OMIM:252100
Febrile Seizures, Familial, 9	Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se...	OMIM:611634
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, High, narrow palate, Submucous cleft hard palate, Cleft palate, Bifid ...	ORPHA:2780
Marbach-Schaaf Neurodevelopmental Syndrome	Torticollis, Hemidystonia, Microcephaly, Tremor, Aggressive behavior, Seizure, Attention deficit ...	OMIM:619680
Bainbridge-Ropers Syndrome	Posteriorly rotated ears, Highly arched eyebrow, Supernumerary nipple, Inability to walk, Synophr...	OMIM:615485
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Glossoptosis, Cleft palate	ORPHA:440354
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Ohdo Syndrome, X-Linked	Hiatus hernia, Thin vermilion border, High palate, Widely spaced teeth, Narrow mouth, Microdontia...	OMIM:300895
Hydroxykynureninuria	Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms	ORPHA:79155
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Severe muscular hypotonia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Hypoplasia o...	OMIM:618291
Holzgreve Syndrome	Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate	ORPHA:2167
Epilepsy, Childhood Absence, Susceptibility To, 5	Generalized non-motor (absence) seizure	OMIM:612269
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Macroglossia, Malabsorption, Protruding tongue	OMIM:242860
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Dysphagia, H...	ORPHA:480864
Mirage Syndrome	Esophageal stricture, Chronic diarrhea, Gastroesophageal reflux, Aspiration pneumonia, Achalasia	OMIM:617053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Ileal atresia	OMIM:615351
Juvenile Sialidosis Type 2	Protruding tongue, Optic atrophy, Gingival overgrowth, Dysphagia, Cherry red spot of the macula	ORPHA:93399
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi...	OMIM:615512
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy	ORPHA:1021
Cimdag Syndrome	Dystonia, Microcephaly, Hypotonia, Cerebral atrophy, Seizure, Pontocerebellar atrophy, Primary mi...	OMIM:619273
Cardiocranial Syndrome, Pfeiffer Type	High, narrow palate, Bifid uvula, Broad philtrum	ORPHA:2872
Autosomal Recessive Spastic Paraplegia Type 77	Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Progressive spastic paraplegia, Scis...	ORPHA:466722
Koolen-De Vries Syndrome	Vertebral fusion, Abnormal dental enamel morphology, Abnormality of the dentition, High, narrow p...	ORPHA:96169
Prader-Willi Syndrome	Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	OMIM:176270
Srd5A3-Cdg	Hypothyroidism, Decreased response to growth hormone stimulation test	ORPHA:324737
Partington Syndrome	Lower limb spasticity, Seizure, Limb dystonia	ORPHA:94083
Aicardi Syndrome	Epileptic spasm, Spina bifida, Microcephaly, Dilated third ventricle, Infantile spasms, Partial a...	OMIM:304050
Cerebrocostomandibular Syndrome	Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cleft palate, ...	OMIM:117650
Mogs-Cdg	Respiratory distress, Hypoventilation, Thoracic scoliosis, Apnea, Hydrocele testis, High palate	ORPHA:79330
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent pneumonia, Macroglossia, Thick vermilion border, Death in childho...	OMIM:617303
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress	OMIM:616733
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Hypoplasia of the primary teeth, Dental malocclusion,...	OMIM:257850
Developmental And Epileptic Encephalopathy 29	Axial hypotonia, Microcephaly, Cerebral atrophy, Myoclonic seizure, Blepharospasm, Limb dystonia,...	OMIM:616339
Acrodermatitis Enteropathica	Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis	ORPHA:37
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Spinocerebellar Ataxia Type 36	Tongue atrophy, Tongue fasciculations, Dysphagia	ORPHA:276198
Teebi-Shaltout Syndrome	High, narrow palate, Cleft palate, Wide mouth, Oligodontia, Narrow mouth, Microphthalmia, Promine...	OMIM:272950
Ritscher-Schinzel Syndrome 1	Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia	OMIM:220210
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	High, narrow palate, Jejunal atresia, Apnea, Narrow palate	OMIM:612949
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia	ORPHA:238459
Marshall-Smith Syndrome	Open mouth, Optic atrophy, Gingival overgrowth, Protruding tongue	ORPHA:561
Duodenal Atresia	Duodenal atresia	ORPHA:1203
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Mala...	ORPHA:793
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Diffuse cerebral atrophy, Axial hypotonia, Head titubation, Vestibular areflexia, Spastic tetrapl...	ORPHA:3240
Icf Syndrome	Macroglossia, Malabsorption, Protruding tongue	ORPHA:2268
Microlissencephaly-Micromelia Syndrome	Hypoparathyroidism, Respiratory distress, Long philtrum	ORPHA:50810
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Glossoptosis, Chorioretinal coloboma	ORPHA:2031
Nicolaides-Baraitser Syndrome	Epileptic spasm, Microcephaly, Generalized non-motor (absence) seizure, Seizure, Status epilepticus	ORPHA:3051
Bazex-Dupre-Christol Syndrome	Furrowed tongue	OMIM:301845
Temple Syndrome	Bifid uvula, High palate, Short philtrum, Cleft palate	OMIM:616222
Lelis Syndrome	Carious teeth, Hypodontia, Furrowed tongue	ORPHA:140936
Cocaine Intoxication	Respiratory distress, Intestinal perforation, Wheezing, Tachypnea, Pneumothorax, Bloody diarrhea,...	ORPHA:90068
Malan Overgrowth Syndrome	Seizure, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Neonatal hypotonia, Ven...	ORPHA:420179
7Q11.23 Microduplication Syndrome	Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Sparse ante...	ORPHA:96121
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Dystonia, Infantile axial hypotonia, Focal-onset seizure, Dysphagia, Titubation, ...	ORPHA:225147
Dystonia 9	Choreoathetosis, Spastic paraplegia, Dystonia	OMIM:601042
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Dementia, Optic atrophy	ORPHA:1173
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Supernumerary nipple, Cleft upper lip, Conical tooth, Cryptorchidism,...	OMIM:263750
Zellweger Syndrome	Death in infancy, Abnormal chorioretinal morphology, Malabsorption, Pyloric stenosis, Optic atrop...	ORPHA:912
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms	ORPHA:168782
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ...	OMIM:265120
Carnitine Deficiency, Systemic Primary	Respiratory distress, Diarrhea, Vomiting	OMIM:212140
Rajab Interstitial Lung Disease With Brain Calcifications 1	Intestinal malrotation, Cough, Tachypnea, Esophageal varix, Respiratory insufficiency, Respirator...	OMIM:613658
Machado-Joseph Disease	Cerebellar atrophy, Dilated fourth ventricle, Rigidity, Dysphagia, Spinocerebellar tract degenera...	OMIM:109150
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor...	ORPHA:3205
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Postural tremor, Atrophy/Degeneration affecting the brainstem, Dysphagia, Gen...	ORPHA:98755
Pelizaeus-Merzbacher Disease	Microcephaly, Hypotonia, Choreoathetosis, Seizure, Dystonia, Spasticity, Cerebral cortical atrophy	ORPHA:702
Lafora Disease	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized myoc...	ORPHA:501
Combined Oxidative Phosphorylation Deficiency 39	Cerebellar atrophy, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Dystonia, Spasticit...	OMIM:618397
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Carious teeth, Glossoptosis	ORPHA:93346
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Hypotonia, Appendicular hypotonia, Dystonia, Intention tremor	OMIM:616127
Muscle-Eye-Brain Disease	Cataract, Optic atrophy, Cognitive impairment	ORPHA:588
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Pyloric stenosis	OMIM:616924
Progeroid Short Stature With Pigmented Nevi	Irregular dentition, Thoracic scoliosis, Allergic rhinitis, Abnormal joint morphology, Hypodontia...	OMIM:176690
Psoriasis 14, Pustular	Geographic tongue, Furrowed tongue	OMIM:614204
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Bilateral cryptorchidism, Recurrent pneumonia, Hydrometrocolpos, Vomiting, Gas...	OMIM:150230
Lowry-Maclean Syndrome	Delayed eruption of primary teeth, Craniosynostosis, Bilateral cryptorchidism, High, narrow palat...	ORPHA:2409
Distal Limb Deficiencies-Micrognathia Syndrome	Cleft palate, High palate, Narrow mouth, Microdontia, Microglossia	ORPHA:1307
Cleidocranial Dysplasia 1	Respiratory distress, Persistent open anterior fontanelle, Neonatal respiratory distress, Delayed...	OMIM:119600
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Broad-based gait, Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior...	OMIM:614756
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	ORPHA:99949
Gapo Syndrome	Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea	ORPHA:2067
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Parkinson Disease 14, Autosomal Recessive	Axial dystonia, Resting tremor, Upper limb postural tremor, Aggressive behavior, Tremor, Rigidity...	OMIM:612953
Parkinson Disease, Late-Onset	Resting tremor, Substantia nigra gliosis, Tremor, Rigidity, Dysphagia, Neuronal loss in central n...	OMIM:168600
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Corneal dystrophy	ORPHA:52
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Axial hypotonia, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, ...	OMIM:608643
Combined Immunodeficiency-Enteropathy Spectrum	Intestinal malrotation, Jejunoileal ulceration, Gastrointestinal atresia, Bloody diarrhea, Rectal...	ORPHA:436252
Griscelli Syndrome Type 2	Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79477
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin concentration, ...	ORPHA:90363
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Gastroesophageal reflux, Protruding tongue	OMIM:614325
Weiss-Kruszka Syndrome	Colpocephaly, Generalized hypotonia, Hypoplasia of the corpus callosum, Agenesis of corpus callos...	OMIM:618619
8Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Bilateral microphthalmos, Retinal coloboma, Secondary microcephaly, Hypop...	ORPHA:508488
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Stomatitis, Fused cervical vertebrae, Joint swelling, Respiratory distress	OMIM:612852
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Dental malocclusion, High palate, Hypodontia, Bifid uvula	OMIM:612350
Leukodystrophy, Progressive, Early Childhood-Onset	Appendicular spasticity, Axial hypotonia, Cerebral atrophy, Hypoplasia of the corpus callosum, Dy...	OMIM:617762
Sepsis In Premature Infants	Abnormal mucociliary clearance, Dyspnea, Diarrhea, Gastrointestinal dysmotility, Nasal flaring, E...	ORPHA:90051
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Submucous cleft hard palate, Bifid uvula	OMIM:617660
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Thin upper lip vermilion, Cryptorchidism, Recurrent pneumonia, Short philtr...	OMIM:607143
Birk-Landau-Perez Syndrome	Axial hypotonia, Facial hypotonia, Microcephaly, Choreoathetosis, Appendicular hypotonia, Dystoni...	OMIM:617595
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Synophrys, Hypsarrhythmia, Protruding ear, Low-set ears, Dysphagia, ...	ORPHA:447997
Linear Skin Defects With Multiple Congenital Anomalies 1	Cleft palate, Anteriorly placed anus, Pigmentary retinopathy, Colonic atresia, Microphthalmia, An...	OMIM:309801
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velopharyngeal insufficien...	ORPHA:363444
Miller Fisher Syndrome	Anisocoria, Facial palsy, Mydriasis	ORPHA:98919
Familial Adenomatous Polyposis 4	Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma	OMIM:617100
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c...	OMIM:614195
Transketolase Deficiency	Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal...	ORPHA:488618
Pseudohypoparathyroidism Type 1B	Elevated circulating parathyroid hormone level, Decreased response to growth hormone stimulation ...	ORPHA:94089
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Thin upper lip vermilion, Decreased response to growth hormone stimulation ...	ORPHA:177907
Caroli Disease	Cholangiocarcinoma, Esophageal varix, Vomiting, Nausea	ORPHA:53035
Retinoblastoma	Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma	OMIM:180200
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum, Hypotonia, Seizure, Neonatal death, Spasticity	OMIM:618810
Trichothiodystrophy 1, Photosensitive	Death in infancy, Intestinal obstruction, Malabsorption, Microphthalmia, Triangular mouth	OMIM:601675
Joubert Syndrome 3	Frontal polymicrogyria, Enlarged fossa interpeduncularis, Hypotonia, Lateral ventricle dilatation...	OMIM:608629
Metachromatic Leukodystrophy	Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum m...	ORPHA:512
Corticobasal Syndrome	Limb dystonia, Tremor, Myoclonus, Dystonia, Progressive extrapyramidal muscular rigidity, Limb my...	ORPHA:454887
Deeah Syndrome	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Cryptorchid...	OMIM:619004
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9	Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se...	OMIM:614280
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys...	OMIM:268315
Spastic Ataxia 3, Autosomal Recessive	Cerebellar atrophy, Leukoencephalopathy, Dystonia, Spasticity, Cerebral cortical atrophy, Cerebel...	OMIM:611390
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti...	ORPHA:790
Double Outlet Right Ventricle	Submucous cleft hard palate, Intestinal malrotation, Cleft palate, Narrow mouth	ORPHA:3426
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Rectal prolapse, Multiple gastric polyps, Oral melanotic macule, Hamart...	OMIM:175200
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft hard palate, Submucou...	OMIM:300990
Dystonia-Aphonia Syndrome	Cerebellar atrophy, Generalized dystonia, Cerebral atrophy, Seizure, Myoclonus, Dysphagia, Oroman...	ORPHA:412217
Branchiooculofacial Syndrome	Anophthalmia, Cleft upper lip, Malrotation of colon, Abnormality of the dentition, Lower lip pit,...	OMIM:113620
Adult-Onset Dystonia-Parkinsonism	Neurofibrillary tangles, Tremor, Rigidity, Dysphagia, Focal dystonia, Frontotemporal cerebral atr...	ORPHA:199351
Mgat2-Cdg	Respiratory distress, Dental crowding, Kyphosis, Gastroesophageal reflux, Hypoplastic nipples, Sc...	ORPHA:79329
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia	OMIM:224500
Dubowitz Syndrome	Delayed eruption of teeth, Carious teeth, Velopharyngeal insufficiency, Submucous cleft hard pala...	OMIM:223370
Limb-Mammary Syndrome	Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula	ORPHA:69085
X-Linked Agammaglobulinemia	Glossoptosis, Malabsorption	ORPHA:47
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Exaggerated startle response, Microcephaly, Tonic seizure, Seizure, Lateral v...	OMIM:618367
Choreoacanthocytosis	Caudate atrophy, Hypertonia, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Small basal...	ORPHA:2388
Joubert Syndrome 2	Retinal dystrophy, Optic disc coloboma, High palate, Chorioretinal coloboma, Microphthalmia	OMIM:608091
Snakebite Envenomation	Hypopituitarism	ORPHA:449285
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypopituitarism, Delayed puberty	OMIM:600462
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Hypohidrosis	ORPHA:98813
Wieacker-Wolff Syndrome	Microcephaly, Hypotonia, Cerebral atrophy, Seizure, Generalized hypotonia, Dystonia, Spasticity	OMIM:314580
Spinocerebellar Ataxia 21	Cerebellar atrophy, Postural tremor, Impulsivity, Aggressive behavior, Cogwheel rigidity, Dystoni...	OMIM:607454
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Hypotonia, Seizure, Secondary microcephaly, Spasticity	OMIM:619423
Craniofacial Dyssynostosis With Short Stature	Pyloric stenosis, Hypospadias, Cryptorchidism	OMIM:218350
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, High, narrow palate, Supernumerary tooth, Optic disc colob...	OMIM:234100
Somatomammotropinoma	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo...	ORPHA:314769
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Hypotonia, Seizure, Secondary microcephaly, Hypoplasia of the...	OMIM:620242
Incontinentia Pigmenti	Hypoplasia of the fovea, Delayed eruption of teeth, Retinal detachment, Conical tooth, Retinal va...	OMIM:308300
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Microcephaly, Dysplastic corpus callosum, Head-banging, Seizure, Status epilepticus, Hypoplasia o...	OMIM:618569
Leber Optic Atrophy	Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy	OMIM:535000
Developmental And Epileptic Encephalopathy 89	Cerebellar atrophy, Epileptic spasm, Axial hypotonia, Bilateral tonic-clonic seizure with general...	OMIM:619124
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developmental cata...	OMIM:175780
Distal Deletion 13Q	Optic atrophy, Iris coloboma, Cognitive impairment	ORPHA:1590
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Microcephaly, Tremor, Hypotonia, Cerebral atrophy, Opisthotonus, Choreoatheto...	OMIM:616271
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Ventriculomegaly, Absent septum pellucidum, Meningocele, Abnormal basal ...	ORPHA:397715
Hijazi-Reis Syndrome	Abnormal repetitive mannerisms	OMIM:301094
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Duodenal atresia	ORPHA:3004
Fanconi Anemia, Complementation Group W	Decreased response to growth hormone stimulation test	OMIM:617784
Fibular Hemimelia	Anophthalmia	ORPHA:93323
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Hypotonia, Generalized non-motor (...	OMIM:620224
3-Methylglutaconic Aciduria, Type Viii	Dystonia, Tremor, Hypotonia, Cerebral atrophy, Dysphagia, Seizure, Hypertonia, Secondary microcep...	OMIM:617248
Diaphragmatic Hernia 4, With Cardiovascular Defects	Optic nerve hypoplasia	OMIM:620025
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Cryptorchidism, Pulmonary arterial hypertension, Supernumerary nipple	ORPHA:2519
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Synophrys, Sensorineural hearing impairment, Abnormal cranial nerve morphology, Aplasia of the in...	ORPHA:90024
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Facial palsy, Confusion, Mydriasis, Anisocoria, Abnorm...	ORPHA:79138
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip pit, Microphthalmia	OMIM:601707
Kleefstra Syndrome	Supernumerary nipple, Highly arched eyebrow, Aggressive behavior, Synophrys, Self-mutilation, Sel...	ORPHA:261494
Microform Holoprosencephaly	Hypoplasia of penis, Maternal diabetes, Panhypopituitarism, Ambiguous genitalia, Hypothyroidism	ORPHA:280200
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Rigidity, Hypotonia, Dysphagia, Blepharospasm, Athetosis, Myoclonus, Dystonia, Spasticity, Cranio...	OMIM:617282
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Igg4-Related Kidney Disease	Interstitial pneumonitis, Sialadenitis, Abnormality of the anterior pituitary, Chronic sinusitis	ORPHA:449395
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Microphthalmia, Papilledema	OMIM:127000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Narrow mouth, Optic atrophy, Gingival overgrowth, Dysphagia	OMIM:230600
Gardner Syndrome	Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Abnormality of the dent...	ORPHA:79665
Hereditary Folate Malabsorption	Gastroesophageal reflux, Glossitis, Cheilitis	ORPHA:90045
White-Sutton Syndrome	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repetitive mannerisms, Sen...	ORPHA:468678
Rapp-Hodgkin Syndrome	Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal insufficiency, Small, conical teeth...	OMIM:129400
Distal Renal Tubular Acidosis	Sensorineural hearing impairment, Polydipsia, Enlarged vestibular aqueduct	ORPHA:18
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious...	OMIM:149730
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,...	OMIM:164200
Niemann-Pick Disease, Type C1	Neurofibrillary tangles, Hypotonia, Dysphagia, Seizure, Generalized hypotonia, Dystonia, Spastici...	OMIM:257220
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Serotonin Syndrome	Confusion, Mental deterioration, Abnormality of the autonomic nervous system, Delirium, Mydriasis	ORPHA:43116
Arima Syndrome	Wide mouth, Dyspnea, Tachypnea, Esophageal varix	OMIM:243910
Classic Galactosemia	Postural tremor, Seizure, Attention deficit hyperactivity disorder, Dystonia, Action tremor	ORPHA:79239
Retinitis Pigmentosa 74	Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Pseudo-Torch Syndrome 2	Cerebral calcification, Microcephaly, Seizure, Lateral ventricle dilatation, Generalized hypotoni...	OMIM:617397
Shwachman-Diamond Syndrome 1	Respiratory distress, Exocrine pancreatic insufficiency, Neonatal respiratory distress, Steatorrhea	OMIM:260400
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Hypotonia, Seizure, Colpocephaly, Secondary microcephaly...	OMIM:620113
Superficial Siderosis	Abnormality of the vestibulocochlear nerve, Anisocoria, Abnormality of the brachial nerve plexus,...	ORPHA:247245
Alternating Hemiplegia Of Childhood	Abnormality of the gastrointestinal tract, Respiratory distress, Exaggerated cupid's bow, Apnea, ...	ORPHA:2131
Wiedemann-Steiner Syndrome	Hyperactivity, Aggressive behavior, Synophrys, Long eyelashes, Low-set ears, Dysphagia, Congenita...	ORPHA:319182
Combined Oxidative Phosphorylation Deficiency 10	Seizure, Spasticity, Hypotonia, Dystonia	OMIM:614702
Familial Paroxysmal Ataxia	Torticollis, Cerebellar vermis atrophy, Dystonia	ORPHA:97
Charcot-Marie-Tooth Disease Type 1E	Decreased nerve conduction velocity, Abnormal pupil morphology, Anisocoria	ORPHA:90658
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Laryngeal stenosis, Erosion of oral mucosa, Abnormal oral mucosa morphology...	ORPHA:79404
Infantile Krabbe Disease	Respiratory distress, Respiratory failure, Gastroesophageal reflux, Vomiting	ORPHA:206436
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Tremor, Synophrys, Gait ataxia, Compulsive behaviors, Attention deficit hype...	ORPHA:476126
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Everted upper lip vermilion, Absent nipple, Abnormal oral mucosa morphology...	OMIM:305100
Gm1 Gangliosidosis	Generalized dystonia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Hypotonia, D...	ORPHA:354
Absent Radius-Anogenital Anomalies Syndrome	Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula	ORPHA:3016
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Optic atrophy, Cleft palate, ...	OMIM:607812
Cog5-Cdg	Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral white matter atrophy, Microcephaly, Seizur...	ORPHA:263487
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Synophrys, Protruding ear, Abnormality of skin pigmentation, Tics, Otitis media, Compulsive behav...	OMIM:619475
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Vomiting, Nausea, Neonatal death	OMIM:231680
Congenital Disorder Of Glycosylation, Type Iig	Thin upper lip vermilion, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow ...	OMIM:611209
Campomelic Dysplasia	Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Cervical kyphosis, Patellar...	OMIM:114290
Joubert Syndrome 1	Optic disc pallor, Retinal dystrophy, Protruding tongue, Optic disc coloboma, Macroglossia, Retin...	OMIM:213300
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia	OMIM:619352
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test	OMIM:618922
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul...	ORPHA:79098
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Submucous cleft soft palate, Cleft soft palate	ORPHA:2282
Mesomelia-Synostoses Syndrome	Aplasia/Hypoplasia of the uvula, High, narrow palate, Narrow mouth, Abnormal oral frenulum morpho...	ORPHA:2496
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Beaulieu-Boycott-Innes Syndrome	Carious teeth, Velopharyngeal insufficiency, Dental malocclusion	OMIM:613680
Diamond-Blackfan Anemia 10	Respiratory distress, Cleft palate	OMIM:613309
Galloway-Mowat Syndrome 1	Hiatus hernia, Optic atrophy, Hypoplasia of the iris, Wide mouth, High palate, Microphthalmia	OMIM:251300
X-Linked Intellectual Disability, Wilson Type	Seizure, Lateral ventricle dilatation, Microcephaly	ORPHA:85290
Neuhauser Syndrome	Hypoplasia of the iris, High palate, Dysphagia, Bifid uvula, Long philtrum	OMIM:249310
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Nonproductive cough, Odynophagia, Diarrhea, Rhinitis, Vomiting, D...	ORPHA:319213
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Bilateral tonic-clonic seizure, Microcephaly	OMIM:619278
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon, Holoprosencephaly, Microcephaly	ORPHA:2165
Fraser Syndrome 2	Intestinal malrotation, Rectal atresia, Narrow mouth, Microphthalmia, Anal atresia	OMIM:617666
Marshall Syndrome	Retinal detachment, Thick lower lip vermilion, Pierre-Robin sequence, Cleft palate, Vitreoretinop...	OMIM:154780
Postencephalitic Parkinsonism	Resting tremor, Abnormal substantia nigra morphology, Oculogyric crisis, Rigidity, Cogwheel rigid...	ORPHA:97349
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea, Camptodactyly of finger, Abnormality of the dentition, Asthma, Elbow...	ORPHA:3206
Gomez-Lopez-Hernandez Syndrome	Decreased response to growth hormone stimulation test	OMIM:601853
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Hyperlordosis, Respiratory insufficiency due to muscle weakness,...	ORPHA:365
Posttransplant Acute Limbic Encephalitis	Seizure, Myoclonus, Dystonia	ORPHA:163921
Emanuel Syndrome	Delayed eruption of teeth, Dental crowding, Submucous cleft lip, Cleft palate, Dysphagia, Ectopic...	ORPHA:96170
Bosma Arhinia Microphthalmia Syndrome	Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, High palate, Microphthalmia	OMIM:603457
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Rigidity, Dysphagia, Myoclonus, Dystonia, Lewy bodies, Global brain atrophy	OMIM:168601
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal dysmotility, Cleft palate, Furrowed t...	ORPHA:453499
Methionine Adenosyltransferase I/Iii Deficiency	Dystonia	OMIM:250850
Autosomal Recessive Centronuclear Myopathy	High palate, Bifid uvula, Narrow mouth	ORPHA:169186
Acromegaly	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo...	ORPHA:963
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Tremor, Dystonia	OMIM:617145
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Cerebral calcification, Decreased response to growth hormo...	ORPHA:1855
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Duodenal polyposis, Supernumerary tooth, Adenomatous colonic polyposis,...	ORPHA:247806
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Propionic Acidemia	Axial hypotonia, Cerebral atrophy, Seizure, Dystonia, Limb hypertonia	OMIM:606054
Paganini-Miozzo Syndrome	Febrile seizure (within the age range of 3 months to 6 years), Lateral ventricle dilatation	OMIM:301025
Weaver Syndrome	Bilateral tonic-clonic seizure, Absent septum pellucidum, Hypotonia, Generalized non-motor (absen...	OMIM:277590
Diamond-Blackfan Anemia 6	Bifid uvula, Cleft palate, Cleft upper lip	OMIM:612561
Kinsship Syndrome	Ventriculomegaly, Bilateral tonic-clonic seizure, Spastic tetraparesis, Microcephaly, Focal-onset...	OMIM:619297
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Eclabion, Thin upper lip vermilion, Cleft soft palate, High, narrow palate, Deep philtrum, Cleft ...	OMIM:619950
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, High palate	OMIM:110100
Lymphedema-Distichiasis Syndrome	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:153400
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Hypoventilation, Spontaneous pneumothorax, Recur...	ORPHA:731
Junctional Epidermolysis Bullosa With Pyloric Atresia	Congenital pyloric atresia, Intestinal atresia	ORPHA:79403
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Optic atrophy, Rapid neurologic d...	ORPHA:585
Focal Dermal Hypoplasia	Abnormal dental morphology, Abnormal dental enamel morphology, Abnormality of the dentition, Open...	ORPHA:2092
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Clitoral hypoplasia, Diabetes mellitus, Breast hypoplasia, Oligozoospermia	OMIM:614813
Iatrogenic Botulism	Orthostatic hypotension, Mydriasis	ORPHA:254509
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Microcephaly, Hypertonia, Neurodegeneration, Arm dystonia, Eye of the tiger ...	ORPHA:79244
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Axonal degeneration, Tremor, Dystonia	OMIM:208920
Autosomal Recessive Robinow Syndrome	Death in infancy, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of the dentiti...	ORPHA:1507
2Q31.1 Microdeletion Syndrome	Deep philtrum, Optic disc coloboma, Cleft palate, Downturned corners of mouth, Thin vermilion bor...	ORPHA:251014
Ritscher-Schinzel Syndrome 2	Intestinal malrotation, High palate, Short philtrum, Protruding tongue	OMIM:300963
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology, Abnormal cerebral white matter morphology, Spastic parapl...	OMIM:263570
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria, Cognitive impairment	ORPHA:1556
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at...	OMIM:613091
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Dystonia, Microcephaly, Tremor, Oral-pharyngeal dysphagia, Spastic diplegia, ...	OMIM:300966
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Posteriorly rotated ears, Synophrys, Sensorineural hearing impairment, Low anterio...	OMIM:619512
Orofaciodigital Syndrome I	Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary tooth, Alveo...	OMIM:311200
Hardikar Syndrome	Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Esophageal varix, Bilater...	OMIM:301068
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Galloway-Mowat Syndrome 3	Microphthalmia, High palate, Narrow mouth, Hiatus hernia	OMIM:617729
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Lumbar hyperlordosis, Stridor, Macroglossia, Thick vermilion border, Thorac...	ORPHA:505248
Jacobsen Syndrome	Pyloric stenosis, Optic atrophy, Macular hypoplasia, Chorioretinal coloboma, Microphthalmia, U-Sh...	OMIM:147791
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Abnormality of the dentition	ORPHA:1806
Brain-Lung-Thyroid Syndrome	Hyperactivity, Microcephaly, Abnormal eating behavior, Abnormal drinking behavior, Choreoathetosi...	ORPHA:209905
Hallermann-Streiff Syndrome	Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Abnormality ...	ORPHA:2108
Opitz-Kaveggia Syndrome	Anal stenosis, Lumbar hyperlordosis, Dental crowding, Intestinal malrotation, Delayed closure of ...	OMIM:305450
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cleft lip, Optic atrophy, Furrowed tongue, High palate, Broad alveolar ridges, Gastroesophageal r...	OMIM:616975
Cleidocranial Dysplasia	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Open ...	ORPHA:1452
Achondroplasia	Respiratory distress, Death in infancy, Lumbar hyperlordosis, Upper airway obstruction, Narrow ve...	OMIM:100800
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Martsolf Syndrome 1	High palate, Short philtrum, Long philtrum, Microphthalmia, Tooth malposition	OMIM:212720
Spondyloepiphyseal Dysplasia Congenita	Retinal detachment, Glossoptosis, Cleft palate	ORPHA:94068
Myhre Syndrome	Submucous cleft hard palate, Cleft palate, Gingival cleft, Abnormal lip morphology, Thin vermilio...	ORPHA:2588
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Narrow mouth, Mic...	ORPHA:77301
Holoprosencephaly-Postaxial Polydactyly Syndrome	Intestinal malrotation, Cleft palate, Orofacial cleft, Narrow mouth, Microphthalmia, Anal atresia	ORPHA:2166
Frontometaphyseal Dysplasia 2	Subglottic stenosis, Hip contracture, Congenital hip dislocation, Cryptorchidism, Deep philtrum, ...	OMIM:617137
Incontinentia Pigmenti	Delayed eruption of teeth, Retinal detachment, Abnormal dental morphology, Abnormal dental enamel...	ORPHA:464
Meier-Gorlin Syndrome 5	Submucous cleft hard palate, Thick vermilion border, Long philtrum	OMIM:613805
Frontofacionasal Dysplasia	Microphthalmia, Bifid uvula, Orofacial cleft, Cleft upper lip	OMIM:229400
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Axial hypotonia, Spastic tetraplegia, Seizure, Dysphagia, Limb hypertonia	OMIM:619909
Myopathy, Myofibrillar, 7	Tongue atrophy, Dysphagia	OMIM:617114
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Abnormal substantia nigra morphology, Generalized dystonia, Postural tremor, Rigidit...	ORPHA:98808
Developmental And Epileptic Encephalopathy 2	Generalized-onset seizure, Multifocal seizures, Infantile spasms, Hypotonia, Seizure, Myoclonus, ...	OMIM:300672
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Hyperparathyroidism, Wide cranial sutures, Ovarian cyst, Gastroesophageal r...	OMIM:618188
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Deep philtrum, Everted lower lip vermilion, High palate, Chorioretinal ...	OMIM:613884
Dystonia-Deafness Syndrome 1	Generalized dystonia, Oculogyric crisis, Leg dystonia, Pseudobulbar paralysis, Dysphagia	OMIM:607371
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Facial hypotonia, Generalized myoclonic seizure, Infantile spasms, Atonic sei...	ORPHA:404454
Parkinsonian-Pyramidal Syndrome	Substantia nigra gliosis, Rigidity, Dysphagia, Myoclonus, Dystonia, Spasticity, Lewy bodies, Inte...	ORPHA:171695
Duane-Radial Ray Syndrome	Anal stenosis, Aganglionic megacolon, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, An...	OMIM:607323
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Epididymitis, Prostatitis, Decreased response to growth hormone stimulation test, Delayed puberty	OMIM:307200
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Microcephaly, Oral-pharyngeal dysphagia, Spastic tetraplegia, Cerebral atrophy, Spastic diplegia,...	OMIM:616878
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Bronchomalacia, Ileal atresia, Peritonitis, E...	OMIM:619351
Mosaic Trisomy 1	Thick lower lip vermilion, Cleft palate, Orofacial cleft, Short upper lip, Wide mouth, Microphtha...	ORPHA:1692
1Q21.1 Microdeletion Syndrome	Microphthalmia, Ankyloglossia, High palate, Long philtrum	ORPHA:250989
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Ataxia, Sensorineur...	ORPHA:163746
Velocardiofacial Syndrome	Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, O...	OMIM:192430
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Cerebellar atrophy, Bilateral tonic-clonic seizure, Hypotonia, Cerebral atrophy, Myoclonic seizur...	OMIM:615398
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Progressive neurologic deterioration, Abnormal retinal vascular morphol...	ORPHA:247691
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Microcephaly, Optic atrophy, Aplasia/Hypoplasia of the corpus callosum, Buphthal...	OMIM:253280
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Hypertonia, Microcephaly	OMIM:604273
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal...	ORPHA:171629
Familial Adenomatous Polyposis 1	Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g...	OMIM:175100
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Thin upper lip vermilion, Diastema, Furrowed tongue, High palate, Smooth philtrum	OMIM:300534
Pachyonychia Congenita 3	Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue	OMIM:615726
Cohen Syndrome	Decreased response to growth hormone stimulation test, Delayed puberty	OMIM:216550
Doors Syndrome	Respiratory distress, Adrenal hyperplasia, Short lingual frenulum, Hemivertebrae, Downturned corn...	ORPHA:79500
Lysosomal Acid Lipase Deficiency	Diarrhea, Esophageal varix, Vomiting, Steatorrhea, Pulmonary arterial hypertension	ORPHA:275761
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation, Spastic paraplegia	OMIM:256850
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Orofaciodigital Syndrome Type 6	Hamartoma of tongue, Midline notch of upper alveolar ridge, Cleft palate, Lobulated tongue, Abnor...	ORPHA:2754
Tarp Syndrome	Pierre-Robin sequence, Optic atrophy, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Abno...	ORPHA:2886
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Aphthous ulcer, Esophageal varix, Oral ulcer, Arthritis, Recurrent sinusitis	OMIM:615688
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Cataract, Corneal opacity, Confusion	ORPHA:309288
Raine Syndrome	Natal tooth, Death in infancy, Protruding tongue, Gingival overgrowth, Cleft palate, Wide mouth, ...	OMIM:259775
Isotretinoin-Like Syndrome	Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi...	ORPHA:2306
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Biliary hyperplasia, Cryptorchidism, Pyloric stenosis, Contracture of the d...	ORPHA:83617
Robinow Syndrome, Autosomal Dominant 3	Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of permanent teeth, A...	OMIM:616894
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Fanconi Anemia, Complementation Group F	Cryptorchidism, Microphallus, Decreased response to growth hormone stimulation test	OMIM:603467
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Cerebellar atrophy, Microcephaly, Hypotonia, Cerebral atrophy, Seizure, Status epilepticus, Hypop...	OMIM:618891
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Wide mouth, Gingival overgrowth, Protruding tongue	OMIM:618797
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, High palate	ORPHA:35173
Rabson-Mendenhall Syndrome	Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia...	ORPHA:769
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Hypothyroidism	ORPHA:90065
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Microphthalmia,...	OMIM:613001
Baller-Gerold Syndrome	Agenesis of corpus callosum, Optic atrophy, Optic nerve hypoplasia	OMIM:218600
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Impulsivity, Tremor, Neuromuscular dysphagia, Blepharospasm, Dystonia, Progressiv...	ORPHA:240071
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Glossoptosis, Cleft palate	ORPHA:436003
Chromosome Xp11.23-P11.22 Duplication Syndrome	Generalized non-motor (absence) seizure, Hypotonia	OMIM:300801
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Everted lower lip vermilion, Smooth philtrum, Protruding tongue	ORPHA:324410
Oculocerebrorenal Syndrome Of Lowe	Dental crowding, Chorioretinal dysplasia, Deep philtrum, Gingivitis, Periodontitis, Gastroesophag...	ORPHA:534
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic nerve hypoplasia, Optic atrophy, Cerebellar hemisphere hypoplasia, Hypoplasia of the corpus...	ORPHA:500150
Autosomal Dominant Spastic Paraplegia Type 9B	Postural tremor, Atrophy of the spinal cord, Hypotonia, Focal dystonia, Spastic dysarthria, Spast...	ORPHA:447757
Loeys-Dietz Syndrome 6	Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration	OMIM:619656
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Ankle swelling, Malabsorption, Pulmonary embolism, Cough, Dyspnea, Asthma, ...	ORPHA:3260
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Edema, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Pedal ...	OMIM:236700
Spinocerebellar Ataxia Type 6	Dystonia, Dysphagia, Blepharospasm, Choking episodes, Intention tremor	ORPHA:98758
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Pseudotrisomy 13 Syndrome	Microphthalmia, Median cleft lip and palate, Anal atresia, Cleft upper lip	OMIM:264480
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum	OMIM:620135
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Microcephaly, Colpocephaly, Hypoplasia of ...	OMIM:617260
Arboleda-Tham Syndrome	Respiratory distress, Thin upper lip vermilion, Neonatal respiratory distress, Intestinal malrota...	OMIM:616268
Orofaciodigital Syndrome Vi	Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, Incomplete cleft of ...	OMIM:277170
Angelman Syndrome	Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue	OMIM:105830
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Hirsutism	OMIM:620073
Charcot-Marie-Tooth Disease, Type 4K	Dystonia	OMIM:616684
Aprosencephaly And Cerebellar Dysgenesis	Retinal dysplasia, Bifid uvula	OMIM:601374
Isolated Exencephaly	Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes	ORPHA:563612
Neurodegeneration With Brain Iron Accumulation 1	Motor tics, Hyperactivity, Tremor, Rigidity, Phonic tics, Dysphagia, Choreoathetosis, Blepharospa...	OMIM:234200
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Protruding tongue, High, narrow palate, Dysphagia, Macroglossia, Pigmentary re...	OMIM:214100
Desmosterolosis	Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Narrow mouth, Bifid uvula	ORPHA:35107
Lesch-Nyhan Syndrome	Hypotonia, Dysphagia, Opisthotonus, Choreoathetosis, Self-injurious behavior, Seizure, Dystonia, ...	OMIM:300322
Sweeney-Cox Syndrome	Velopharyngeal insufficiency, High palate, Short philtrum, Gastroesophageal reflux, Narrow mouth,...	OMIM:617746
Carey-Fineman-Ziter Syndrome 1	Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Gastroesophageal reflux, Dysphagi...	OMIM:254940
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Bilateral tonic-clonic seizure, Microcephaly, Repetitive compulsive behavior, Hypotonia, Generali...	ORPHA:513456
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hypotonia, Seizure, Secondary microcephaly, Myoclonus, Dystonia, Neonatal death	OMIM:619167
Hermansky-Pudlak Syndrome 10	Axial hypotonia, Bilateral tonic-clonic seizure, Microcephaly, Cerebral atrophy, Generalized hypo...	OMIM:617050
Hennekam Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Camptodac...	ORPHA:2136
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lower limb hypertonia, Lateral ventricle dilatation, Hypotonia, Intention tremor	OMIM:619995
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Hypothyroidism, Decreased response to growth hormone stimulation test, Delayed puberty	OMIM:619234
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos, Microcephaly	ORPHA:2399
Ulnar-Mammary Syndrome	Camptodactyly of finger, Cryptorchidism, Pyloric stenosis, Ectopic anus, Breast aplasia, Hypodont...	ORPHA:3138
Knobloch Syndrome 2	Retinal detachment, Vitreous floaters, Pyloric stenosis, Vitreoretinopathy, Enamel hypoplasia	OMIM:618458
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death, Microcolon	OMIM:619362
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Neurofibrillary tangles, Rigidity, Limb dystonia, Spasticity, Lewy bodies, Cerebr...	OMIM:616840
Niemann-Pick Disease Type C	Axial dystonia, Lower limb spasticity, Dystonia, Generalized-onset seizure, Aggressive behavior, ...	ORPHA:646
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Recurrent pneumo...	ORPHA:51636
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly	OMIM:620330
Loeys-Dietz Syndrome 4	Eosinophilic infiltration of the esophagus, High, narrow palate, High palate, Broad uvula, Bifid ...	OMIM:614816
Perry Syndrome	Tremor, Rigidity, Inappropriate behavior, Disinhibition, Dystonia	OMIM:168605
Spinocerebellar Ataxia Type 8	Cerebellar atrophy, Rigidity, Dysphagia, Spastic dysarthria, Dystonia, Spasticity, Cerebellar ver...	ORPHA:98760
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Vomiting	OMIM:251000
Methylmalonic Acidemia With Homocystinuria Type Cblf	Stomatitis, Glossitis, Cleft palate	ORPHA:79284
Hartsfield Syndrome	Hypospadias, Cryptorchidism, Gonadotropin deficiency, Micropenis, Diabetes insipidus	OMIM:615465
Caroli Syndrome	Melena, Cholangiocarcinoma, Esophageal varix, Hematemesis	ORPHA:480520
Brittle Cornea Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Gait disturbance, Abnormality of...	ORPHA:90354
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Cerebellar atrophy, Rigidity, Dysphagia, Dystonia, Intention tremor	OMIM:258450
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Respiratory distress, Streak ovary, Aganglionic megacolon, Wormian bon...	ORPHA:798
Developmental And Epileptic Encephalopathy 38	Axial hypotonia, Multifocal seizures, Status epilepticus, Dystonia, Limb hypertonia	OMIM:617020
Ring Chromosome 22 Syndrome	Thick vermilion border, Protruding tongue	ORPHA:1446
Metachromatic Leukodystrophy	Hypotonia, Spastic tetraplegia, Abnormal cerebral white matter morphology, Seizure, Generalized h...	OMIM:250100
Meckel Syndrome, Type 10	Bifid uvula, Cleft palate	OMIM:614175
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, Abnormal repetitiv...	OMIM:301066
Niemann-Pick Disease, Type C2	Neurofibrillary tangles, Hypotonia, Dysphagia, Seizure, Dystonia, Spasticity, Abnormal repetitive...	OMIM:607625
Elsahy-Waters Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Anal stenosis, Supernumerary tooth, Phthisis...	OMIM:211380
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Postural tremor, Dysphagia, Choreoathetosis, Head tremor, Dystonia, Cerebellar vermis atrophy	ORPHA:64753
Osteoglophonic Dysplasia	Delayed eruption of teeth, Respiratory distress, Camptodactyly of finger, Craniosynostosis, Crypt...	OMIM:166250
Bloom Syndrome	Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Oligozoospermia, Azoospermia	ORPHA:125
Ventriculomegaly With Defects Of The Radius And Kidney	Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly	OMIM:602200
Short-Rib Thoracic Dysplasia 12	Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lobulated tongue, Neo...	OMIM:269860
Orofaciodigital Syndrome Type 1	Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Hamartoma of tongue...	ORPHA:2750
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty	OMIM:615866
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Short uvula, Cleft palate, Agenesis of permanent teeth, Fused teeth, High...	OMIM:614091
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Abnormal dental enamel morphology, Abnormal dental morphology, Pyloric ste...	ORPHA:818
Aicardi-Goutières Syndrome	Cerebral calcification, Extrapyramidal muscular rigidity, Axial hypotonia, Dystonia, Microcephaly...	ORPHA:51
Hyperphosphatasia-Intellectual Disability Syndrome	Tented upper lip vermilion, Aganglionic megacolon, Anteriorly placed anus, Downturned corners of ...	ORPHA:247262
Chromosome 18Q Deletion Syndrome	Thin upper lip vermilion, Cleft upper lip, Optic atrophy, Cleft palate, Downturned corners of mou...	OMIM:601808
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Cousin Syndrome	Microphthalmia, Microglossia, Alveolar ridge overgrowth, Cleft palate	OMIM:260660
Familial Adenomatous Polyposis	Duodenal polyposis, Multiple gastric polyps, Eruption failure, Adenocarcinoma of the small intest...	ORPHA:733
Mosaic Trisomy 9	Microphthalmia, High palate, Intestinal malrotation, Cleft palate	ORPHA:99776
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Hypotonia, Seizure, Generalized hypotonia, Dystonia, Cerebral cortical atrophy	OMIM:277410
Atypical Progressive Supranuclear Palsy Syndrome	Extrapyramidal muscular rigidity, Tremor, Rigidity, Focal dystonia, Blepharospasm, Inappropriate ...	ORPHA:99750
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Lower limb spasticity, Hypotonia, Choreoathetosis, Dystonia	OMIM:604391
Hereditary Acrokeratotic Poikiloderma	Abnormality of the gastrointestinal tract, Premature loss of primary teeth, Abnormality of the de...	ORPHA:2907
Gabriele-De Vries Syndrome	Facial hypotonia, Tremor, Cortical dysplasia, Hypotonia, Lateral ventricle dilatation, Attention ...	OMIM:617557
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Dental crowding, Narrow palate, High palate, Thick vermilion border, Na...	OMIM:616078
Amoebiasis Due To Free-Living Amoebae	Restlessness, Abnormal spinal cord morphology, Abnormal basal ganglia morphology, Abnormal hypoth...	ORPHA:68
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Optic disc coloboma, High palate, Bifid uvula	OMIM:300472
Cerebrofacioarticular Syndrome	Microcephaly, Dysplastic corpus callosum, Self-injurious behavior, Hypoplasia of the corpus callo...	ORPHA:314679
Metachromatic Leukodystrophy, Juvenile Form	Seizure, Punctate periventricular T2 hyperintense foci, Decerebrate rigidity, Generalized hypoton...	ORPHA:309263
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Dental crowding, Decreased response to growth hormone stimulation test, Apnea, Deep philtrum, Mul...	OMIM:619503
Senior-Boichis Syndrome	Esophageal varix	ORPHA:84081
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Retinal dystrophy, Intestinal malrotation, Hamartoma of tongue, Cleft palate, M...	OMIM:263520
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Esophageal varix	ORPHA:309854
Gm1 Gangliosidosis Type 1	Diffuse cerebral atrophy, Exaggerated startle response, Dystonia, T2 hypointense basal ganglia, D...	ORPHA:79255
Orofaciodigital Syndrome Type 4	Median cleft lip, Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiv...	ORPHA:2753
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Smooth philtrum, Macular coloboma, Optic atrophy, Pigmentary retinopathy, Abnormality of macular ...	ORPHA:79282
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Congenital stationary night blindness, Hypoplasia of the tooth germ, Abnormal optic disc morpholo...	ORPHA:293967
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Myopic astigmatism, Ocular albinism, Blue irides, Iri...	OMIM:614077
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Adnp Syndrome	Respiratory distress, Thin upper lip vermilion, Oral-pharyngeal dysphagia, Cryptorchidism, Thick ...	ORPHA:404448
Neurodevelopmental Disorder With Spasticity And Poor Growth	Axial hypotonia, Generalized dystonia, Reduced cerebral white matter volume, Infantile spasms, Op...	OMIM:618076
Chand Syndrome	Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla...	ORPHA:1401
Glycosylphosphatidylinositol Biosynthesis Defect 1	Atonic seizure, Generalized non-motor (absence) seizure	OMIM:610293
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Hypodontia, Microphthalmia, Lip pit, Abnormal palate morphology	ORPHA:1236
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to...	ORPHA:158668
Nabais Sa-De Vries Syndrome, Type 2	Neonatal hypotonia, Seizure, Dystonia	OMIM:618829
Farber Disease	Respiratory distress, Abnormality of the knee, Abnormality of the elbow, Respiratory insufficienc...	ORPHA:333
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Wide mouth, Thick vermilion border, Bifid uvula, Abnormality of the dentition	OMIM:618505
Branchioskeletogenital Syndrome	Unilateral cleft palate, Abnormality of the dentition, Carious teeth, Submucous cleft hard palate...	ORPHA:1299
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Supernumerary nipple, Highly arched eyebrow, Low-set ears, Difficulty walking, Overfolded helix, ...	OMIM:618653
Wilson Disease	Esophageal varix, Vomiting, Dysphagia, Hepatocellular carcinoma	OMIM:277900
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Hypospadias, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorch...	ORPHA:96182
Intellectual Developmental Disorder, Autosomal Dominant 53	Bilateral tonic-clonic seizure, Infantile axial hypotonia, Microcephaly, Hypotonia, Thick corpus ...	OMIM:617798
Cutis Laxa, Autosomal Recessive, Type Iiib	Cryptorchidism, Pyloric stenosis, Elbow flexion contracture, Hip dislocation, Thin vermilion border	OMIM:614438
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Delayed eruption of primary teeth	OMIM:300952
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Supernumerary tooth, Hypoplasia of teeth, Anteriorly placed anus, Agen...	OMIM:268400
Spastic Paraplegia 9A, Autosomal Dominant	Lower limb spasticity, Resting tremor, Corpus callosum atrophy, Spastic paraplegia, Abnormal uppe...	OMIM:601162
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Hematemesis, Dyspnea, Diarrhea, Melena, Respiratory f...	ORPHA:340
Supranuclear Palsy, Progressive, 1	Limb dystonia, Axial dystonia, Neuronal loss in basal ganglia, Neurofibrillary tangles, Tremor, R...	OMIM:601104
Neu-Laxova Syndrome	Abnormality of the philtrum, Submucous cleft hard palate, Cleft palate, Thick vermilion border, E...	ORPHA:2671
Giant Cell Arteritis	Gastrointestinal infarctions, Optic atrophy, Glossitis	ORPHA:397
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Pneumonia, Diarrhea, Peritonitis, Tachypnea, Vomiting, Nausea	ORPHA:36234
Autosomal Dominant Kenny-Caffey Syndrome	Congenital hypoparathyroidism, Decreased testicular size, Abnormal circulating follicle-stimulati...	ORPHA:93325
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia, High palate, Bifid uvula, Dental malocclusion	OMIM:601552
Spinocerebellar Ataxia Type 3	Dystonia	ORPHA:98757
Young-Onset Parkinson Disease	Restless legs, Impulsivity, Tremor, Rigidity, Agitation, Dystonia, Spasticity	ORPHA:2828
Cardiospondylocarpofacial Syndrome	Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic...	OMIM:157800
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Microdontia, Oral leukoplakia, Furrowed tongue	OMIM:148210
Arachnoid Cyst	Facial palsy, Cranial nerve compression, Social and occupational deterioration, Memory impairment...	ORPHA:2356
Meier-Gorlin Syndrome 6	Hypoplastic labia majora, Cryptorchidism, Decreased response to growth hormone stimulation test, ...	OMIM:616835
Hereditary Late-Onset Parkinson Disease	Resting tremor, Impulsivity, Rigidity, Dysphagia, Agitation, Dystonia, Lewy bodies, Cerebral cort...	ORPHA:411602
Frontonasal Dysplasia 2	Microphthalmia, Widely spaced teeth, Broad philtrum, Conical tooth	OMIM:613451
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Filippi Syndrome	Microcephaly, Hypotonia, Seizure, Limb dystonia, Spasticity	ORPHA:3255
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Optic atrophy, Facial palsy, Mydriasis	OMIM:259720
Steinert Myotonic Dystrophy	Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g...	ORPHA:273
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Pneumonia, Cleft upper lip, Malrotation of c...	OMIM:122470
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Stomach cancer, Cleft palate, Colon cancer, Microphthalmia, Duodenal atresia	ORPHA:1052
Metachromatic Leukodystrophy, Late Infantile Form	Seizure, Decerebrate rigidity, Generalized hypotonia, Dystonia, Spasticity, Punctate periventricu...	ORPHA:309256
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Submucous cleft hard palate, Bilateral cleft lip and pal...	OMIM:157170
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Protruding tongue, Thick vermilion border, Gastroesophageal reflux, Narrow mout...	OMIM:608779
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Tethered cord, Microcephaly, Hypotonia, Seizure, Colpocephaly, Dystonia	OMIM:620083
Au-Kline Syndrome	Dental malocclusion, Cleft palate, Downturned corners of mouth, Oligodontia, High palate, Gastroe...	OMIM:616580
Basal Cell Nevus Syndrome 1	Odontogenic keratocysts of the jaw, Cleft upper lip, Hamartomatous stomach polyps, Cleft palate, ...	OMIM:109400
Cardiofaciocutaneous Syndrome 1	Abnormality of the dentition, Open bite, Deep philtrum, Submucous cleft hard palate, Dental maloc...	OMIM:115150
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thin upper lip vermilion, Natal tooth, Carious teeth, Optic disc coloboma, Downturned corners of ...	OMIM:620186
Tetraamelia Syndrome 1	Microphthalmia, Anal atresia, Cleft palate, Cleft upper lip	OMIM:273395
Cerebrocostomandibular Syndrome	Glossoptosis, Short hard palate, Cleft palate, Death in infancy	ORPHA:1393
Dominant Beta-Thalassemia	Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H...	ORPHA:231226
Wound Botulism	Mydriasis	ORPHA:178475
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Impaired pain sensation, EEG abnormality, Long eyelashes, Attention defici...	OMIM:619005
Ataxia With Vitamin E Deficiency	Tremor, Hypertonia, Dystonia	ORPHA:96
Osteoporosis-Pseudoglioma Syndrome	Microcephaly, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Mi...	OMIM:259770
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Gastrointestinal dysmotility, Asthma, Nasal flaring, Downturned corners...	ORPHA:466943
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Gastroesophageal reflux, Apnea, Orofacial cleft	ORPHA:17
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Macroglossia, Pleural effusion, Apnea	OMIM:261740
Cockayne Syndrome	Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Abnormal dental morpholo...	ORPHA:191
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Esophageal varix, Pulmonary arterial hypertension, Gastric ulce...	ORPHA:2072
Knobloch Syndrome	Retinal detachment, Pyloric stenosis, Abnormal vitreous humor morphology, Macular degeneration, V...	ORPHA:1571
Beta-Ureidopropionase Deficiency	Microcephaly, Hypotonia, Seizure, Status epilepticus, Dystonia, Neonatal hypotonia	OMIM:613161
Episodic Ataxia, Type 2	Cerebellar vermis atrophy, Dystonia	OMIM:108500
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Narrow philtrum, Hypermyelinated retinal nerve fibers, Thin vermilion ...	OMIM:601812
Amyotrophic Dystonic Paraplegia	Spastic paraplegia, Dystonia	OMIM:105300
Ataxia-Oculomotor Apraxia Type 4	Dystonia	ORPHA:459033
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Thin upper lip vermilion, Deep philtrum, Submucous cleft hard palate, Thin lower lip vermilion, H...	OMIM:619194
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Cleft soft palate	OMIM:614557
Acrootoocular Syndrome	Decreased response to growth hormone stimulation test	ORPHA:2980
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Thin upper lip vermilion, Congenital hip dislocation, Thoracolumbar scolios...	ORPHA:480880
Pycnodysostosis	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation test	ORPHA:763
Inhalational Botulism	Mydriasis	ORPHA:254504
Igg4-Related Pachymeningitis	Dyspnea, Sinusitis, Parotitis, Dysphagia	ORPHA:449427
Dyskeratosis Congenita, X-Linked	Carious teeth, Cryptorchidism, Esophageal stricture, Restrictive ventilatory defect, Oral leukopl...	OMIM:305000
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus, Dysphagia, Ag...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus, Dysphagia, Ag...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus, Dysphagia, Ag...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus, Dysphagia, Ag...	ORPHA:93924
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Protruding tongue, Diastema, Thick lower lip vermilion, Widely-spaced maxillary central incisors,...	OMIM:301040
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Resting tremor, Dystonia, Aggressive behavior, Palatal tremor, Abnormal globu...	ORPHA:909
Metachromatic Leukodystrophy, Adult Form	Progressive spastic quadriplegia, Punctate periventricular T2 hyperintense foci, Seizure, Decereb...	ORPHA:309271
Mcleod Syndrome	Seizure, Generalized-onset seizure, Compulsive behaviors, Dystonia	OMIM:300842
Histiocytosis-Lymphadenopathy Plus Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Azoospermi...	OMIM:602782
Cockayne Syndrome Type 3	Optic disc pallor, Retinal atrophy, Retinal dystrophy, Carious teeth, Retinal hemorrhage, Gastroe...	ORPHA:90324
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Bronchomalacia, Pyloric stenosis, Rectal prolapse, Recurrent pneumonia, Gastroe...	OMIM:613177
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Generalized-onset seizure, Hypotonia, Macrogyria, Athetosis, Colpocephaly, Se...	OMIM:614866
Friedreich Ataxia	Dysphagia, Dystonia, Spasticity, Cervical spinal cord atrophy, Impaired visually enhanced vestibu...	ORPHA:95
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot...	OMIM:616959
Slc39A8-Cdg	Cerebellar atrophy, Severe muscular hypotonia, Seizure, Dystonia, Cerebral cortical atrophy, Vent...	ORPHA:468699
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Arthritis, Gastric ulcer, Gastric hypertrophy	OMIM:161700
Stickler Syndrome	Retinal detachment, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnormal vitre...	ORPHA:828
Joubert Syndrome 6	Abnormal repetitive mannerisms, Ataxia	OMIM:610688
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Oral-pharyngeal dysphagia, Scoliosis, Impaired oropharyngeal swallow respon...	OMIM:615273
Tbck-Related Intellectual Disability Syndrome	Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorchidism, Central a...	ORPHA:488632
Mucopolysaccharidosis Type 2	Otosclerosis, Papilledema, Abnormality of retinal pigmentation, Hyperactivity, Impulsivity, Aggre...	ORPHA:580
Distal 22Q11.2 Microdeletion Syndrome	Thin upper lip vermilion, High, narrow palate, Pyloric stenosis, Cleft palate, Narrow mouth, Anky...	ORPHA:261330
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Microcephaly, Tremor, Hypotonia, Cerebral atrophy, Athetosis, Seizure, Genera...	OMIM:615356
Acro-Renal-Ocular Syndrome	Aganglionic megacolon, Optic disc hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Microp...	ORPHA:959
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P...	ORPHA:95455
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Dyspnea, Episodic respiratory distress, Dysphagia, Episodic vomiting, Hyperventilation	ORPHA:255210
Rubinstein-Taybi Syndrome 1	Respiratory distress, Dental crowding, Bilateral cryptorchidism, High, narrow palate, High palate...	OMIM:180849
Myoectodermal Gonadal Dysgenesis Syndrome	Elevated circulating luteinizing hormone level, Pyloric stenosis, Thin vermilion border, Hypodont...	OMIM:618419
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Axial hypotonia, Dystonia, Seizure, Myoclonus, Brain atrophy, Hypoplasia of the corpus callosum, ...	OMIM:618278
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Ectopia pupillae, Attention deficit hyperactivity disorder	OMIM:618223
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Anal stenosis, Dental crowding, Intestinal malrotation, Cleft upper lip, Thick lower...	OMIM:300373
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Dysphagia, Gastrointe...	ORPHA:79408
15Q Overgrowth Syndrome	Dental crowding, High, narrow palate, High palate, Congenital stationary night blindness, Bifid u...	ORPHA:314585
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration, Wrist flexion contracture, Knee flexion contracture	OMIM:618733
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, High, narrow palate, Wide mouth, Widely spaced teeth, Short philtrum, Narrow mou...	OMIM:300967
Neuroocular Syndrome	Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Short uvula, Lens coloboma, Sub...	OMIM:619539
Nmda Receptor Encephalitis	Orthostatic hypotension, Oculogyric crisis, Orthostatic tachycardia, Hypersexuality, Chorea, EEG ...	ORPHA:217253
Combined Oxidative Phosphorylation Deficiency 3	Bilateral tonic-clonic seizure, Tremor, Hypotonia, Seizure, Generalized hypotonia, Dystonia, Neon...	OMIM:610505
Mitochondrial Complex I Deficiency, Nuclear Type 2	Seizure, Hypotonia, Ventriculomegaly, Dystonia	OMIM:618222
Renpenning Syndrome 1	Thin upper lip vermilion, Macrodontia, Cleft palate, Death in childhood, High palate, Short philt...	OMIM:309500
Imerslund-Gräsbeck Syndrome	Glossitis, Angular cheilitis	ORPHA:35858
Fontaine Progeroid Syndrome	Thin upper lip vermilion, Death in infancy, Protruding tongue, High, narrow palate, Anteriorly pl...	OMIM:612289
Cystinosis	Polydipsia, Abnormal repetitive mannerisms	ORPHA:213
Mend Syndrome	Microphthalmia, High palate, Cleft palate, Asymmetry of the mouth	ORPHA:401973
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Peritonitis, Vomiting, Cough, Pleural effusion	ORPHA:1546
Degcags Syndrome	Jejunal atresia, Pneumonia, Bronchomalacia, Oral-pharyngeal dysphagia, Protruding tongue, Pyloric...	OMIM:619488
Monosomy 18Q	Bilateral cryptorchidism, Micropenis, Hypothyroidism, Secondary growth hormone deficiency	ORPHA:1600
Coffin-Siris Syndrome 12	Overfolding of the superior helices, Sparse scalp hair, Posteriorly rotated ears, Facial palsy, H...	OMIM:619325
Histiocytoid Cardiomyopathy	Microphthalmia, Optic atrophy, Cleft palate, Congenital aphakia	ORPHA:137675
Botulism	Mydriasis	ORPHA:1267
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Dental crowding, High, narrow palate, Thick lower lip vermilion, Cleft palate, Short philtrum, Bi...	OMIM:309583
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Posteriorly rotated ears, Cupped ear, Optic atrophy, Protruding ear, Low posterior...	OMIM:309590
Robinow Syndrome	Dental crowding, Persistence of primary teeth, Dental malocclusion, Gingival overgrowth, Orofacia...	ORPHA:97360
Colchicine Poisoning	Respiratory distress, Diarrhea, Cardiorespiratory arrest, Vomiting, Nausea	ORPHA:31824
Generalized Pustular Psoriasis	Geographic tongue, Cheilitis	ORPHA:247353
Otopalatodigital Syndrome Type 2	Pierre-Robin sequence, Cleft palate, Glossoptosis, Oligodontia, Narrow mouth, Anodontia	ORPHA:90652
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Hyperactivity, Protruding ear, Gait disturbance, Macrotia, Abnormal repetitive...	ORPHA:464306
Mucoepithelial Dysplasia, Hereditary	Melena, Erythematous oral mucosa, Furrowed tongue	OMIM:158310
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Focal-onset seizure, Hypotonia, Generalized non-motor (absence) seizure, Seizure, Pontocerebellar...	ORPHA:258
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Neonatal hypotonia, Seizure, Dystonia, Microcephaly	ORPHA:457193
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Vomiting	OMIM:251110
Isolated Biliary Atresia	Atretic gallbladder, Hypopituitarism, Bile duct proliferation, Hypothyroidism	ORPHA:30391
Robinow Syndrome, Autosomal Recessive 1	Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Gingival overgrowth, Wide ...	OMIM:268310
Meckel Syndrome, Type 1	Anal atresia, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, Cle...	OMIM:249000
Beta-Thalassemia Major	Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H...	ORPHA:231214
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Postural tremor, Rigidity, Neuromuscular dysphagia	ORPHA:227510
Monosomy 9P	Abnormality of the dentition, Cleft palate, High palate, Narrow mouth, Microphthalmia, Long philtrum	ORPHA:261112
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Posteriorly rotated ears, Highly arched eyebrow, Synophrys, Low anterior hairline, Hypsarrhythmia...	OMIM:301044
Infant Botulism	Keratoconjunctivitis sicca, Mydriasis	ORPHA:178478
Desbuquois Dysplasia 2	Dental crowding, Cleft palate, Hypodontia, Long philtrum, Bifid uvula	OMIM:615777
Foodborne Botulism	Mydriasis	ORPHA:228371
Ataxia-Oculomotor Apraxia 4	Cerebellar atrophy, Dystonia, Atrophy/Degeneration affecting the brainstem	OMIM:616267
Primrose Syndrome	Sparse scalp hair, Restlessness, Calcification of the auricular cartilage, Ataxia, Absent facial ...	OMIM:259050
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Microcephaly	OMIM:278730
Khan-Khan-Katsanis Syndrome	Tethered cord, Microcephaly, Hypotonia, Colpocephaly, Hypertonia, Dysphagia, Ventriculomegaly	OMIM:618460
Robinow Syndrome, Autosomal Dominant 1	Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Per...	OMIM:180700
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Diarrhea, Vomiting, Hepatocellular carcinoma	OMIM:256810
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Micropenis, Hypospadias, Small pituitary gland	OMIM:619479
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Memory impairment, Dementia, Optic atrophy	OMIM:604121
Plague	Respiratory distress, Chapped lip, Hematemesis, Abnormality of the elbow, Enterocolitis, Acute in...	ORPHA:707
Multisystemic Smooth Muscle Dysfunction Syndrome	Retinal infarction, Mydriasis	OMIM:613834
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Eec Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Xerostomia, Hypohidrosis, Hyp...	ORPHA:1896
Kasabach-Merritt Syndrome	Respiratory distress, Hepatic hemangioma, Hypopnea	ORPHA:2330
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Peritonitis, Dyspnea, Pne...	ORPHA:31204
Craniotubular Dysplasia, Ikegawa Type	Optic nerve compression, Optic atrophy, Optic neuropathy, Mydriasis	OMIM:619727
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Downturned corners of mouth, Rod-cone dystrophy, Ankyloglossia, Cleft palate	ORPHA:488642
Diamond-Blackfan Anemia	Cleft lip, High palate, Cleft soft palate, Adenocarcinoma of the colon	ORPHA:124
Lenz-Majewski Hyperostotic Dwarfism	Anterior pituitary hypoplasia, Microcephaly, Dysplastic corpus callosum, Hypotonia, Generalized h...	OMIM:151050
Linear Nevus Sebaceus Syndrome	Aplasia/Hypoplasia of the cerebellum, Microphthalmia, Dandy-Walker malformation, Aplasia/Hypoplas...	ORPHA:2612
Yunis-Varon Syndrome	Premature loss of primary teeth, Abnormality of dental structure, Pyloric stenosis, High, narrow ...	ORPHA:3472
Autosomal Dominant Robinow Syndrome	Median cleft lip and palate, Open bite, High, narrow palate, Abnormality of the gingiva, Supernum...	ORPHA:3107
Stuve-Wiedemann Syndrome 1	Pursed lips, Death in infancy, Carious teeth, Thin vermilion border, Smooth tongue, Dysphagia	OMIM:601559
Holoprosencephaly 3	Solitary median maxillary central incisor, Cleft lip, Bifid uvula, Cleft palate	OMIM:142945
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Aganglionic megacolon, Abnormal dental enamel morphology, Intestinal...	ORPHA:567
Lenz-Majewski Hyperostotic Dwarfism	Abnormal dental enamel morphology, High, narrow palate, Submucous cleft hard palate, Cleft palate...	ORPHA:2658
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Absent vas deferens, Hypospadias, Diabetes mellitus, Pyloric stenosis, Aplasia/Hypoplasia of the ...	ORPHA:93111
Cockayne Syndrome B	Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Optic atrophy, Hypoplasia ...	OMIM:133540
Jacobsen Syndrome	Death in infancy, Intestinal malrotation, Cryptorchidism, Pyloric stenosis, Hip dislocation, Abno...	ORPHA:2308
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Abnormal eyebrow morphology, Sensorineural hearing impairment,...	ORPHA:1606
Ulbright-Hodes Syndrome	Respiratory distress, Cryptorchidism, Humeroradial synostosis, Ovoid thoracolumbar vertebrae, Pne...	ORPHA:3404
Dubowitz Syndrome	Delayed eruption of teeth, Anal stenosis, Abnormality of the dentition, Malabsorption, Rectal pro...	ORPHA:235
Skin Creases, Congenital Symmetric Circumferential, 2	Thin upper lip vermilion, Carious teeth, Cleft palate, Narrow mouth, Microdontia, Microphthalmia	OMIM:616734
Supranuclear Palsy, Progressive, 2	Axial dystonia, Neuronal loss in basal ganglia, Postural tremor, Neurofibrillary tangles, Rigidit...	OMIM:609454
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lower limb spasticity, Axial hypotonia, Absent septum pellucidum, Microcephaly, Hypotonia, Abnorm...	OMIM:300868
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Retinal dystrophy, Accessory oral frenulum, Wide mouth, Macroglossia, Macular degeneration, Widel...	OMIM:266920
Sifrim-Hitz-Weiss Syndrome	Anteriorly placed anus, Bifid uvula	OMIM:617159
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Decreased response to growth hormone stimulation test, Tonic seizure, Abnormal rep...	OMIM:615873
Tolchin-Le Caignec Syndrome	Submucous cleft hard palate, High palate, Narrow mouth	OMIM:618971
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Rigidity	ORPHA:102
Meckel Syndrome 12	Bifid uvula	OMIM:616258
Leukocyte Adhesion Deficiency Type Ii	Severe periodontitis, Protruding tongue, Deep philtrum, Premature loss of teeth, Gingival overgro...	ORPHA:99843
Hypermanganesemia With Dystonia 1	Tremor, Dystonia, Rigidity, Spastic paraparesis	OMIM:613280
Barber-Say Syndrome	Delayed eruption of teeth, Velopharyngeal insufficiency, Dental malocclusion, Gingival overgrowth...	OMIM:209885
Complete Atrioventricular Septal Defect	Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a...	ORPHA:1329
Autosomal Recessive Cutis Laxa Type 1	Pyloric stenosis, Pneumothorax, Hip dislocation, Recurrent pneumonia, Respiratory insufficiency, ...	ORPHA:90349
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Bilateral tonic-clonic seizure, Decreased response to growth hormone stimulation test, Microcepha...	ORPHA:268261
Pineoblastoma	Papilledema, Progressive neurologic deterioration, Cognitive impairment, Memory impairment, Retin...	ORPHA:251909
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Mosaic Variegated Aneuploidy Syndrome 2	Hypothyroidism, Decreased response to growth hormone stimulation test	OMIM:614114
Scalp-Ear-Nipple Syndrome	Anisocoria, Cataract, Iris coloboma, Developmental cataract	OMIM:181270
Catel-Manzke Syndrome	Cleft upper lip, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow mouth, Bi...	OMIM:616145
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati...	ORPHA:2729
Arterial Tortuosity Syndrome	Long philtrum, High palate, Bifid uvula, Hiatus hernia	OMIM:208050
Temtamy Preaxial Brachydactyly Syndrome	Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy	ORPHA:363417
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Congenital hip dislocation, Block vertebrae, Posteriorly placed anus, Anal ...	OMIM:306955
Agel Amyloidosis	Tongue atrophy, Xerostomia	ORPHA:85448
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Rigidity	ORPHA:98933
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax	OMIM:620306
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Vomiting	OMIM:251100
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Cleft palate	ORPHA:306542
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:254780
Cardiofaciocutaneous Syndrome	Submucous cleft hard palate, High palate, Long philtrum	ORPHA:1340
Trichothiodystrophy	Carious teeth, High, narrow palate, Bilateral microphthalmos, Macular degeneration, Enamel hypopl...	ORPHA:33364
Epidermolysis Bullosa Simplex With Pyloric Atresia	Congenital pyloric atresia, Oral mucosal blisters	ORPHA:158684
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Multifocal epileptiform discharges, EEG with generalized sharp slow waves, Low-set ears, EEG with...	ORPHA:369837
Biotinidase Deficiency	Respiratory distress, Apnea, Hyperventilation	ORPHA:79241
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Bilateral tonic-clonic seizure, Simple febrile seizure, Aggressive behavior, Typical absence seiz...	ORPHA:466950
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Diarrhea, Peritonitis, Respiratory failure, Vomitin...	ORPHA:533
Achondrogenesis, Type Ia	Stillbirth, Protruding tongue	OMIM:200600
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Seizure, Self-mutilation, Dystonia	ORPHA:79233
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Cryptorchidism, Cleft palate, High palate, Abnormality of the Leydig cells, Testicul...	ORPHA:3063
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Neonatal death	OMIM:253310
Fucosidosis	Hypotonia, Spastic tetraplegia, Cerebral atrophy, Seizure, Dystonia, Spastic gait	OMIM:230000
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of retinal pigmentation, Tongue atrophy	ORPHA:466768
Bartsocas-Papas Syndrome 1	Anal stenosis, Cleft upper lip, Cleft palate, Oral synechia, Microphthalmia, Anal atresia	OMIM:263650
Roberts Syndrome	Microphthalmia, High palate, Cleft palate, Cleft upper lip	ORPHA:3103
Smith-Lemli-Opitz Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Dandy-Walker malformation, Hyperactivity, Microceph...	OMIM:270400
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Protruding ear, Gait disturbance, Attention deficit hyperactivity disorder, Ab...	ORPHA:464311
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Dandy-Walker malformation	OMIM:302960
Monosomy 13Q14	Microphthalmia, Retinoblastoma, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:1587
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot...	ORPHA:293987
Marden-Walker Syndrome	Pyloric stenosis, Submucous cleft hard palate, Cleft palate, Narrow mouth, Bifid uvula	ORPHA:2461
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Intermittent diarrhea, Intestinal malrotation, Exocrine pancreatic insuffic...	ORPHA:2255
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Central adrenal insufficiency, Decreased response to growth hormone stimulation test	OMIM:616007
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ...	OMIM:235730
Keppen-Lubinsky Syndrome	Spastic tetraparesis, Microcephaly, Opisthotonus, Seizure, Lateral ventricle dilatation, Hyperton...	OMIM:614098
Parkinson Disease 20, Early-Onset	Dystonia, Tremor, Rigidity, Dysphagia, Cerebral cortical atrophy	OMIM:615530
Isolated Arrhinia	Microphthalmia	ORPHA:1134
17Q24.2 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Secondary amenorrhea, Pineal cyst	ORPHA:529962
Blepharonasofacial Malformation Syndrome	Torsion dystonia	ORPHA:1252
Zttk Syndrome	Abnormality of the dentition, Submucous cleft hard palate, Downturned corners of mouth, Thin verm...	OMIM:617140
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Median cleft lip, Orofacial cleft	ORPHA:3186
Craniofacial Microsomia 1	Anophthalmia, Cleft upper lip, Cleft palate, Wide mouth, Transverse facial cleft, Microphthalmia	OMIM:164210
Multiple Epiphyseal Dysplasia Type 5	Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Multiple small ve...	ORPHA:93311
Floating-Harbor Syndrome	Restlessness, Broad-based gait, Impulsivity, Aggressive behavior, Cochlear malformation, Compulsi...	ORPHA:2044
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Abnormal tongue morphology, Neoplasm of the liver, Thick vermilion border,...	ORPHA:653
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Frontal balding, Highly arched eyebrow, Tremor, Synophrys, Sensorineural hearing impairment, Prot...	OMIM:612474
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Cerebral calcification, Tremor, Leukoencephalopathy, Seizure, Dystonia, Spasticity	OMIM:612199
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Nongranulomatous uveitis, Choroidal neovascular...	ORPHA:91500
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Cortical dysplasia, Typical absence seizure, Seizure, Polymicrogyria, Ventriculomegaly	OMIM:618343
Chilton-Okur-Chung Neurodevelopmental Syndrome	Septo-optic dysplasia, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	OMIM:619841
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Anorexia, Ocular albinism, Melanocytic nevus, Long ey...	ORPHA:79430
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Tremor, Dysphagia, Pontocerebellar atrophy, Head tremor, Dystonia	OMIM:606002
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Bifid uvula	OMIM:119500
Glucagonoma	Gastrointestinal hemorrhage, Intestinal obstruction, Abnormal gastrointestinal motility, Steatorr...	ORPHA:97280
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Holop...	OMIM:618820
Developmental Malformations-Deafness-Dystonia Syndrome	Generalized dystonia, Dysphagia	ORPHA:79107
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Dystonia, Epileptic spasm, Absent septum pellucidum, Abnormality of...	ORPHA:438213
Myhre Syndrome	Thin upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Narrow mouth, Microphthalmia	OMIM:139210
Stankiewicz-Isidor Syndrome	Abnormal optic disc morphology	OMIM:617516
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Cleft lip, Cleft palate, Submucous cleft of soft and hard palate, Short...	OMIM:301022
Adams-Oliver Syndrome 1	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:100300
Fanconi Anemia, Complementation Group E	Microphthalmia, Microcephaly	OMIM:600901
Congenital Disorder Of Glycosylation, Type It	Pierre-Robin sequence, Bifid uvula, Cleft palate	OMIM:614921
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Pilomatrixoma, Sensorineural hearing impairment,...	ORPHA:353281
Neu-Laxova Syndrome 1	Cleft upper lip, Swollen lip, Thick lower lip vermilion, Cleft palate, Stillbirth, Neonatal death...	OMIM:256520
Sandifer Syndrome	Abnormal head movements	ORPHA:71272
Classical-Like Ehlers-Danlos Syndrome Type 2	Long uvula, Premature loss of teeth, Narrow palate, High palate, Periodontitis, Tooth malposition	ORPHA:536532
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Thin upper lip vermilion, Tented upper lip vermilion, Hypoplastic philtrum, Protruding tongue, Th...	OMIM:309580
Hyperoxaluria, Primary, Type I	Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, Retinopathy	OMIM:259900
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s...	OMIM:301091
6Q Terminal Deletion Syndrome	Abnormal cerebral white matter morphology, Colpocephaly, Seizure, Hypoplasia of the corpus callos...	ORPHA:75857
Q Fever	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:781
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Enamel hypoplasia, Smooth tongue, Oral mucosal blisters	ORPHA:79396
Cowden Syndrome	Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal polyposis, High palate	ORPHA:201
Fanconi Anemia, Complementation Group A	Microphthalmia, Microcephaly	OMIM:227650
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Cutis Laxa, Autosomal Recessive, Type Iic	Dental crowding, Kyphoscoliosis, Bilateral cryptorchidism, Pyloric stenosis, Pneumothorax, Knee f...	OMIM:617402
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Abnormal cortical gyration, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus,...	OMIM:210710
Osteopetrosis, Autosomal Recessive 7	Lateral ventricle dilatation, Hypocalcemic seizures, Hydrocephalus, Generalized hypotonia	OMIM:612301
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ...	ORPHA:353277
Tetrasomy 9P	Absent gallbladder, Cryptorchidism, Oligozoospermia, Infertility, Micropenis	ORPHA:3310
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Ogden Syndrome	Torticollis, Sparse eyebrow, Protruding ear, Fine hair, Long eyelashes, Low-set ears, Dysphagia, ...	OMIM:300855
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Cataract, Aganglionic megacolon, Abnormal pupil morphology, Optic atrophy, Microcor...	ORPHA:261552
Ataxia-Telangiectasia	Microcephaly, Tremor, Choreoathetosis, Seizure, Myoclonus, Dystonia, Intention tremor	OMIM:208900
Shwachman-Diamond Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Hypopituitarism, Pancre...	ORPHA:811
Trichohepatoenteric Syndrome 1	Villous atrophy, Narrow mouth, Wide mouth, Long philtrum, Bifid uvula	OMIM:222470
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Downturned corners of mouth, Glossoptosis, Macroglossia, High palate, G...	ORPHA:444077
Alström Syndrome	Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado...	ORPHA:64
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, High palate, Protruding tongue	OMIM:617062
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microdontia, Microphthalmia, Thick vermilion border, Smooth philtrum	OMIM:620005
Holoprosencephaly 1	Microphthalmia, Median cleft lip and palate	OMIM:236100
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Asthma, Esophageal varix, Knee dislocation, Gastroesophageal reflu...	OMIM:619534
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy	OMIM:617156
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia, U-Shaped upper lip vermilion, Thin vermilion border, High palate	OMIM:609945
Fanconi Anemia, Complementation Group C	Microphthalmia, Microcephaly	OMIM:227645
Coccidioidomycosis	Respiratory distress, Pneumonia, Peritonitis, Pleural empyema, Cough, Exudative pleural effusion	ORPHA:228123
Wolf-Hirschhorn Syndrome	Abnormal pinna morphology, Highly arched eyebrow, Sensorineural hearing impairment, Low posterior...	OMIM:194190
Distal Deletion 15Q	Thin upper lip vermilion, Abnormality of the dentition, Cleft palate, Short philtrum, Bifid tongue	ORPHA:1596
Koolen-De Vries Syndrome Due To A Point Mutation	Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocio...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocio...	ORPHA:363958
Hydrolethalus Syndrome 1	Microphthalmia, Stillbirth, Median cleft lip, Cleft palate	OMIM:236680
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Respiratory acidosis, Narrow mouth	OMIM:614748
Kufor-Rakeb Syndrome	Oculogyric crisis, Rigidity, Blepharospasm, Hypertonia, Myoclonus, Dysphagia, Lingual dystonia, C...	ORPHA:306674
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Enlargement of the ankles, Abnormal joint morphology, Recurrent pneumonia, ...	ORPHA:99646
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Decreased response to growth hormone stimulation test, Supernumerary nipple, Shawl scrotum	OMIM:213980
Chromosome 1P36 Deletion Syndrome, Distal	Epileptic spasm, Infantile spasms, Microcephaly, Pachygyria, Aggressive behavior, Hydrocephalus, ...	OMIM:607872
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Hypotonia, Colpocephaly, Lower limb hypertonia, Hypoplasia of the corpus callosum, Cerebral white...	ORPHA:477993
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Generalized dystonia, Dysphagia, Spastic tetraparesis, Dystonia	OMIM:620358
Digeorge Syndrome	Parathyroid agenesis, High, narrow palate, Asthma, Chronic pulmonary obstruction, Recurrent pneum...	OMIM:188400
Alg9-Cdg	Thin upper lip vermilion, Villous atrophy, Wide mouth, Gastroesophageal reflux, Long philtrum, Bi...	ORPHA:79328
Ulnar-Mammary Syndrome	Subglottic stenosis, Anal stenosis, Ectopic posterior pituitary, Anterior pituitary hypoplasia, P...	OMIM:181450
Down Syndrome	Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia	OMIM:190685
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Inability to walk, Abnormal repetitive mannerisms, Opisthotonus	ORPHA:508533
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Neoplasm of the tongue, Submucous cleft hard palate, Bifid uvula	ORPHA:3047
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob...	ORPHA:99889
Scimitar Syndrome	Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough	ORPHA:185
Congenital Disorder Of Glycosylation, Type Iim	Epileptic spasm, Microcephaly, Hypotonia, Cerebral atrophy, Seizure, Lateral ventricle dilatation...	OMIM:300896
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Anterior pituitary hypoplasia, Aggressive behavior, Dysplastic corpus callosum, Seizure, Pseudobu...	ORPHA:466791
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Posteriorly rotated ears, Hypoplastic toenails, Microtia, Low-set e...	OMIM:619522
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly of finger, Cra...	ORPHA:284984
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl...	ORPHA:261537
Blomstrand Lethal Chondrodysplasia	Natal tooth, Long philtrum, Protruding tongue	ORPHA:50945
Mowat-Wilson Syndrome	Delayed eruption of teeth, Dental crowding, Aganglionic megacolon, Abnormal dental morphology, Cl...	ORPHA:2152
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Unsteady gait, Nail dysplasia, Sparse hair, Loss of ambulation, Abnormal repetitive mannerisms	OMIM:616682
Acrofacial Dysostosis 1, Nager Type	Aganglionic megacolon, Cleft upper lip, Velopharyngeal insufficiency, Cleft palate, Wide mouth	OMIM:154400
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Generalized-onset seizure, Microcephaly, Tremor, Partial agenesis of the corpus callosum, Hypoton...	OMIM:220111
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Melano...	ORPHA:744
Tuberous Sclerosis Complex	Respiratory distress, Pituitary adenoma, Parathyroid hyperplasia, Respiratory failure, Pheochromo...	ORPHA:805
Arthrogryposis Multiplex Congenita 5	Microcephaly, Hand tremor, Hypertonia, Generalized hypotonia, Dystonia	OMIM:618947
Gitelman Syndrome	Neoplasm of the pancreas, Respiratory distress, Gout, Parathyroid adenoma, Chondrocalcinosis	ORPHA:358
Witteveen-Kolk Syndrome	Anisocoria, Cataract, Iris coloboma, Attention deficit hyperactivity disorder	OMIM:613406
Bilateral Perisylvian Polymicrogyria	Pseudobulbar paralysis, Gastroesophageal reflux, Dysphagia, Protruding tongue	ORPHA:98889
Alkaptonuria	Arthropathy, Vertebral fusion, Kyphosis, Arthritis, Limitation of knee mobility, Intervertebral d...	OMIM:203500
Chromosome 18P Deletion Syndrome	Hypotonia, Dystonia	OMIM:146390
Peters Plus Syndrome	Hypospadias, Cryptorchidism, Congenital hypothyroidism, Hypoplasia of the uterus, Clitoral hypopl...	ORPHA:709
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Thin upper lip vermilion, Optic disc hypoplasia, Abnormality of the dentition, Downt...	ORPHA:3455
Trisomy 8P	Thin vermilion border, Malrotation of small bowel, Bifid uvula, Cleft palate	ORPHA:264450
Chromosome 16P13.3 Duplication Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Wide mouth, Long philtrum, Microdontia, Bif...	OMIM:613458
Townes-Brocks Syndrome	Rectoperineal fistula, Anteriorly placed anus, Wide mouth, Rectovaginal fistula, Chorioretinal co...	ORPHA:857
Pearson Syndrome	Hypoparathyroidism, Diabetes mellitus, Pancreatic fibrosis, Decreased response to growth hormone ...	ORPHA:699
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Dystonia	OMIM:277460
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Submucous cleft hard palate, Thick vermilion border, Bifid uvula, Cleft palate	ORPHA:2636
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Exaggerated cupid's bow, Gastroesophageal reflux, Thick vermilion border, Narrow mouth, Bifid uvula	OMIM:619480
Kawasaki Disease	Glossitis, Cheilitis	ORPHA:2331
White-Kernohan Syndrome	Dysplastic corpus callosum, Hypotonia, Attention deficit hyperactivity disorder	OMIM:619426
Legius Syndrome	Hyperactivity, Hypotonia, Seizure, Attention deficit hyperactivity disorder, Dystonia	ORPHA:137605
Loeys-Dietz Syndrome 3	Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Craniosynostosis, Osteoarthritis...	OMIM:613795
Sillence Syndrome	Flat acetabular roof, Platyspondyly, Scoliosis, Abnormal vertebral morphology, Intervertebral dis...	ORPHA:3168
Ring Chromosome 7 Syndrome	Cleft palate, Thin vermilion border, Short philtrum, Median cleft palate, Narrow mouth, Bifid uvula	ORPHA:1449
Aortic Arch Interruption	Respiratory distress, Tachypnea, Exertional dyspnea	ORPHA:2299
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Bifid uvula, Cleft palate, Narrow mouth	OMIM:130070
Vascular Ehlers-Danlos Syndrome	Keratoconus, Abnormal pupil morphology, Cognitive impairment	ORPHA:286
Meester-Loeys Syndrome	High palate, Bifid uvula, Gingival overgrowth	OMIM:300989
Microsporidiosis	Glossitis	ORPHA:2552
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Intestinal malrotation, Submucous cleft lip, Dental malocclusio...	OMIM:312870
Generalized Arterial Calcification Of Infancy	Respiratory distress, Abnormality of the knee, Calcification of the auricular cartilage, Abnormal...	ORPHA:51608
Frontometaphyseal Dysplasia	Oligodontia, Bifid uvula, Cleft palate	ORPHA:1826
Neuroleptic Malignant Syndrome	Extrapyramidal muscular rigidity, Oculogyric crisis, Tremor, Agitation, Dysphagia	ORPHA:94093
Restrictive Dermopathy	Natal tooth, Submucous cleft hard palate, Microcolon, Narrow mouth	ORPHA:1662
Restrictive Dermopathy 1	Natal tooth, Submucous cleft hard palate, Narrow mouth	OMIM:275210
Loeys-Dietz Syndrome 1	Cleft palate, Bifid uvula, Eosinophilic infiltration of the esophagus	OMIM:609192
Genitopatellar Syndrome	Microcephaly, Hypotonia, Colpocephaly, Generalized hypotonia, Dysphagia, Pachygyria, Agenesis of ...	OMIM:606170
Sotos Syndrome	Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Hypotonia, Cerebral atrophy, Aplasia...	ORPHA:821
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,...	ORPHA:740
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus ca...	OMIM:619869
Eisenmenger Syndrome	Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pulmonary art...	ORPHA:97214
Sponastrime Dysplasia	Microcoria, Cataract, Congenital aphakia	ORPHA:93357
Leptospirosis	Respiratory distress, Pleural effusion, Diarrhea, Cough	ORPHA:509
Scorpion Envenomation	Mydriasis	ORPHA:466677
Lysinuric Protein Intolerance	Pancreatitis, Decreased response to growth hormone stimulation test	ORPHA:470
Kabuki Syndrome 1	Bilateral tonic-clonic seizure with focal onset, Microcephaly, Hydrocephalus, Hypotonia, Seizure,...	OMIM:147920
Roberts-Sc Phocomelia Syndrome	Cleft upper lip, Cleft palate, Stillbirth, High palate, Microphthalmia	OMIM:268300
Loeys-Dietz Syndrome	High palate, Bifid uvula, Orofacial cleft	ORPHA:60030
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Tethered cord, Microcephaly, Focal-onset seizure, Typical absence seizure, Hypotonia, Atonic seizure	OMIM:617157
Congenital Disorder Of Glycosylation, Type Iiw	Gastroesophageal reflux, Supernumerary tooth, Ankyloglossia	OMIM:619525
Pmm2-Cdg	Respiratory distress, Thin upper lip vermilion, Elevated circulating growth hormone concentration...	ORPHA:79318
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Enamel hypoplasia	OMIM:309000
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Tremor, Axial hypotonia, Oculogyric crisis, Hypertonia	ORPHA:1578
Mesomelia-Synostoses Syndrome	Absent uvula	OMIM:600383
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn...	ORPHA:99125
Pallister-Killian Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Anal stenosis, Tented upper lip vermilion, I...	OMIM:601803
Loeys-Dietz Syndrome 2	Cleft palate, Bifid uvula, Eosinophilic infiltration of the esophagus	OMIM:610168
Carpenter Syndrome 2	Generalized non-motor (absence) seizure, Hypotonia	OMIM:614976
Woodhouse-Sakati Syndrome	Choreoathetosis, Dystonia	OMIM:241080
Chronic Visceral Acid Sphingomyelinase Deficiency	Generalized non-motor (absence) seizure, Attention deficit hyperactivity disorder	ORPHA:77293

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype	Allele	Zygosity	Sex	Life Stage
Eye - MPATH pathological process term developmental dysplasia	Sox2^em1(IMPC)Mbp	HET		Early adult
Eye - MPATH pathological process term atrophy	Sox2^em1(IMPC)Mbp	HET		Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sox2.

No publications found that use IMPC mice or data for Sox2.

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MGI Allele	Allele Type	Produced
Sox2^{tm400582(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Sox2^em1(IMPC)Mbp	Whole-gene deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Sox2 MGI:98364

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Morphology Embryo E9.5

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X-ray

Human diseases caused by Sox2 mutations

Histopathology

IMPC related publications

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