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Gene: Arb2a MGI:1915925

Gene Summary

Name:

ARB2 cotranscriptional regulator A

Synonyms:

Fam172a, 53-E6, 2610318O14Rik, 9430037D06Rik, pEN87, 1110033M05Rik

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
increased circulating aspartate transaminase level	Arb2a^{em2(IMPC)Ccpcz}	HOM	Early adult	4.76×10^-05
abnormal freezing behavior	Arb2a^{em2(IMPC)Ccpcz}	HOM	Early adult	3.44×10^-05
enlarged thymus	Arb2a^{em2(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal thymus morphology	Arb2a^{em2(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal liver morphology	Arb2a^{em2(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased Ly6C-positive NK T cell number	Arb2a^{em2(IMPC)Ccpcz}	HOM	Early adult	3.09×10^-07
decreased liver weight	Arb2a^{em2(IMPC)Ccpcz}	HOM	Early adult	1.61×10^-05

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Human diseases caused by Arb2a 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 Arb2a (0 diseases)
Human diseases predicted to be associated with Arb2a (2493 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Arb2a 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
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Micro Syndrome	Hypoplasia of penis, Micrognathia, Clitoral hypoplasia, High palate, Short philtrum, Pachygyria, ...	ORPHA:2510
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Micrognathia, Brachycephaly, Micropenis, Hypospadias, Anteverted nares, Depressed nasal bridge, C...	ORPHA:171839
Kapur-Toriello Syndrome	Atrial septal defect, Conductive hearing impairment, Micropenis, Pachygyria, Iris coloboma, Cleft...	OMIM:244300
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
46,Xy Sex Reversal 4	Distal symphalangism, Micrognathia, Prominent nose, Depressed nasal ridge, Sex reversal, High pal...	OMIM:154230
Bresek Syndrome	Renal dysplasia, Hypoplasia of the bladder, Alopecia, Aganglionic megacolon, Optic nerve hypoplas...	ORPHA:85284
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Endocrine-Cerebroosteodysplasia	Small scrotum, Adrenal hypoplasia, Micrognathia, Ankyloblepharon, Sex reversal, Microphallus, Hol...	OMIM:612651
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Emanuel Syndrome	Multiple joint contractures, Dental crowding, Hooded eyelid, Congenital diaphragmatic hernia, Mic...	ORPHA:96170
Joubert Syndrome With Ocular Defect	Encephalocele, Low-set, posteriorly rotated ears, Ptosis, Aganglionic megacolon, Anteverted nares...	ORPHA:220493
Kapur-Toriello Syndrome	Hypoplasia of penis, Posteriorly rotated ears, Intestinal malrotation, Ventricular septal defect,...	ORPHA:2328
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Abnormal pinna morphology, Camptodactyly of finger, Spina bifida, Micrognath...	ORPHA:2839
Bardet-Biedl Syndrome 19	Cone/cone-rod dystrophy, Atrial septal defect, Renal insufficiency, Ventricular septal defect, Ex...	OMIM:615996
Emanuel Syndrome	Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High palate, Atrial septal defect...	OMIM:609029
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Micrognathia, Brachycephaly, Ante...	OMIM:619148
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Unilateral ptosis, Bicuspid aortic valve, Micrognathia, Generalized joint ...	ORPHA:508498
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Uplifted earlobe, Brachycephaly, Short philtrum, Widely spaced teeth, Chorioretinal coloboma, Con...	OMIM:280000
Charge Syndrome	Bifid scrotum, Narrow face, Aqueductal stenosis, Eyelid coloboma, Hypoplasia of the semicircular ...	ORPHA:138
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Frontal bossing, Epicanthus, Short stature, Dolichocephaly, Cleft lip, Deep ph...	OMIM:618571
7P22.1 Microduplication Syndrome	Abnormality of the kidney, Cryptorchidism, Abnormal heart morphology, Abnormal facial shape, Abno...	ORPHA:314034
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Micrognathia, Epispadias, Partial agenesis of the corpus callosum, Simpl...	OMIM:615948
Marden-Walker Syndrome	Decreased muscle mass, Micrognathia, High, narrow palate, Congenital contracture, High palate, Mi...	OMIM:248700
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Hypospadias, Renal agenesis, Congenital dia...	ORPHA:139466
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Anteriorly placed anus, Atrial septal defect, Patent foramen ovale, Cryptorc...	OMIM:618494
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Micrognathia, Orofacial cleft, Downturned corners of mouth, Hyperconvex fi...	OMIM:194190
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Congenital diaphragmatic hernia, Micrognathia, Renal cyst, Short philtrum, Microph...	OMIM:618454
Meier-Gorlin Syndrome 8	Micrognathia, Bilateral cryptorchidism, Nephroptosis, Unilateral renal hypoplasia, Microtia, Thic...	OMIM:617564
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a...	OMIM:146110
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Bifid scrotum, Hypoplasia of penis, Micrognathia, Hypothyroidism, Short stature, Cryptorchidism, ...	ORPHA:85321
Hadziselimovic Syndrome	Ventricular hypertrophy, Epicanthus, Posteriorly rotated ears, Anteverted nares, Prominent nasal ...	OMIM:612946
Charge Syndrome	Decreased response to growth hormone stimulation test, External genital hypoplasia, Micrognathia,...	OMIM:214800
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Micrognathia, Glossoptosis, High palate, Conductive hearing impairment, Hypospadias, ...	OMIM:611209
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Burn-Mckeown Syndrome	Mandibular prognathia, Micrognathia, Protruding ear, Short philtrum, Atrial septal defect, Conduc...	OMIM:608572
Autism Spectrum Disorder Due To Auts2 Deficiency	Micrognathia, Congenital contracture, Short philtrum, Joint contracture of the 5th finger, Compul...	ORPHA:352490
Johnson Neuroectodermal Syndrome	Protruding ear, Sparse hair, Conductive hearing impairment, Absent eyebrow, Alopecia, Facial pals...	ORPHA:2316
Even-Plus Syndrome	Atrial septal defect, Recurrent urinary tract infections, Severe short stature, Highly arched eye...	OMIM:616854
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Low anterior hairlin...	ORPHA:861
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Cryptorchidism, Flexion contracture, Micropenis, Skeletal muscle hypertrophy, Macro...	OMIM:613156
Apert Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Conductive hearing impairment, Agenesis of corp...	ORPHA:87
Peters-Plus Syndrome	Hypoplasia of the vagina, Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Lim...	OMIM:261540
Bowen-Conradi Syndrome	Short stature, Camptodactyly of finger, Joint stiffness, Micrognathia, Cryptorchidism, Prominent ...	ORPHA:1270
Lessel-Kubisch Syndrome	Narrow nasal bridge, Renal insufficiency, Short stature, Sparse pubic hair, Renal hypoplasia, Pre...	OMIM:618681
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Frontal bossing, Hypoplasia of penis, Depressed nasal bridge, Ventricular septal defect, Microgna...	ORPHA:2256
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Micrognathia, Simplified gyral pattern, High palate, Short stature, Oval face, Wide nasal bridge,...	OMIM:300749
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Hypogonadism, Retinal coloboma, Rod-cone dystrophy	OMIM:601794
Peroxisome Biogenesis Disorder 2A (Zellweger)	Micrognathia, Aminoaciduria, Hypoplasia of the thymus, Hepatomegaly, Brushfield spots, Cryptorchi...	OMIM:214110
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Optic disc hypoplasia, Choanal stenosis, Atrial septal defect, V...	OMIM:607323
Baraitser-Winter Syndrome 1	Bicuspid aortic valve, Orofacial cleft, Chorioretinal coloboma, Micropenis, Pachygyria, Agenesis ...	OMIM:243310
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Choanal atresia, Short stature, Cleft upper lip, Crypt...	OMIM:147950
Inverted Duplicated Chromosome 15 Syndrome	Synophrys, Brachycephaly, Self-biting, High palate, Short philtrum, Abnormal facial shape, Abnorm...	ORPHA:3306
Pseudotrisomy 13 Syndrome	Adrenal hypoplasia, Holoprosencephaly, Atrial septal defect, Micropenis, Agenesis of corpus callo...	OMIM:264480
Gorlin Syndrome	Mandibular prognathia, Frontal bossing, Vertebral fusion, Epicanthus, Hypogonadotropic hypogonadi...	ORPHA:377
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, Micrognathia, High, narrow palate, Synophrys, Br...	OMIM:122470
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Reduced bone minera...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
Van Maldergem Syndrome 2	Bifid scrotum, Irregular dentition, Osteopenia, Tented upper lip vermilion, Micrognathia, Hypopla...	OMIM:615546
Campomelic Dysplasia	Irregular dentition, Micrognathia, Delayed epiphyseal ossification, Depressed nasal ridge, Sex re...	OMIM:114290
Verheij Syndrome	Branchial cyst, Renal cyst, Coloboma, Joint laxity, Vertebral fusion, Square face, Anteverted nar...	OMIM:615583
Holoprosencephaly	Hypoplasia of penis, Flat occiput, Congenital diaphragmatic hernia, Abnormality of the spleen, De...	ORPHA:2162
Branchiooculofacial Syndrome	Micrognathia, Renal cyst, Premature graying of hair, Conductive hearing impairment, Sparse hair, ...	OMIM:113620
Congenital Disorder Of Deglycosylation 2	Hamartoma of tongue, Micrognathia, Facial asymmetry, Highly arched eyebrow, Partial agenesis of t...	OMIM:619775
Uruguay Faciocardiomusculoskeletal Syndrome	Limited elbow movement, Prominent nose, Cardiomegaly, Synophrys, Pugilistic facies, Camptodactyly...	OMIM:300280
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Epicanthus, Short stature, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Renal ...	OMIM:616817
Orofaciodigital Syndrome Xvii	Median cleft lip, Short stature, Prominent nose, High, narrow palate, Renal hypoplasia, Tetralogy...	OMIM:617926
Cornelia De Lange Syndrome 5	Micrognathia, Synophrys, Low anterior hairline, Brachycephaly, Downturned corners of mouth, High ...	OMIM:300882
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Hydrolethalus	Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydrocephalus, Submucous cleft h...	ORPHA:2189
Cardiocranial Syndrome, Pfeiffer Type	Contracture of the proximal interphalangeal joint of the 2nd finger, Micrognathia, High, narrow p...	ORPHA:2872
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Irregular dentition, Coarse facial features, Optic disc pallor, Depressed nasal bridge, Short sta...	OMIM:619260
Warburg Micro Syndrome 1	Enlarged sylvian cistern, Ptosis, Anteverted nares, External genital hypoplasia, Short stature, M...	OMIM:600118
Chromosome 3Pter-P25 Deletion Syndrome	Flat occiput, Micrognathia, Synophrys, Brachycephaly, Downturned corners of mouth, High palate, A...	OMIM:613792
Trisomy 4P	Low-set, posteriorly rotated ears, Smooth philtrum, Round face, Thick eyebrow, Hypospadias, Campt...	ORPHA:1738
Distal Deletion 10Q	Micrognathia, Prominent nose, Hypoplastic toenails, Functional abnormality of the bladder, Brachy...	ORPHA:96148
8P11.2 Deletion Syndrome	Hypoplasia of penis, Micrognathia, High palate, Atrial septal defect, Abnormality of the hypothal...	ORPHA:251066
Otodental Syndrome	Lens coloboma, Periodontitis, Otitis media with effusion, Abnormal dental pulp morphology, Iris c...	ORPHA:2791
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Abnormality of the kidney, Micrognathia, Cryptorchid...	ORPHA:1724
Cach Syndrome	Premature ovarian insufficiency, Flexion contracture, Optic atrophy, Renal hypoplasia, Primary am...	ORPHA:135
Oliver-Mcfarlane Syndrome	Hypoplasia of penis, Peripheral axonal neuropathy, Hypogonadotropic hypogonadism, Decreased respo...	OMIM:275400
Vici Syndrome	Micrognathia, Albinism, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, High palate, N...	OMIM:242840
Cerebrofacioarticular Syndrome	Osteopenia, Irregular dentition, Micrognathia, Hypoplasia of the maxilla, Anteriorly placed anus,...	ORPHA:314679
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Protruding ear, Dextrotransposition of the great arteries, Agenesis of cor...	OMIM:618619
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Abnormality of the dentition, Hyposmia, Hearing impair...	OMIM:615266
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma, Rod-cone dystrophy	ORPHA:363741
Trisomy 17P	Skeletal muscle atrophy, Hypoplasia of penis, Micrognathia, Prominent nose, Flexion contracture, ...	ORPHA:261290
Macrocephaly, Acquired, With Impaired Intellectual Development	Narrow nasal bridge, Unilateral cryptorchidism, Anteverted nares, Impulsivity, Aggressive behavio...	OMIM:618286
Distal Duplication 6P	Abnormal hair quantity, Frontal bossing, Short stature, Prominent nasal bridge, Micrognathia, Abn...	ORPHA:1745
22Q11.2 Deletion Syndrome	Micrognathia, Abnormal eyelid morphology, Short philtrum, Abnormality of the uterus, Hypoplasia o...	ORPHA:567
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Anteverted nares, Abnormality of the endocrine system, Cryptorchidism, Sensorineural hearing impa...	ORPHA:464288
Fraser Syndrome 1	Cleft ala nasi, Dental crowding, Calvarial skull defect, Malformed lacrimal duct, Abnormal thymus...	OMIM:219000
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypoplastic toenails, Deep philtrum, Low-set, posteriorly rotated ears, Anteverted nares, Short s...	ORPHA:2701
46,Xy Sex Reversal 1	Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute...	OMIM:400044
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Narrow face, Congenital diaphragmatic hernia, Ectopic kidney, Anteverted ears, Deep philtrum, Ves...	OMIM:617641
Congenital Hydrocephalus	Frontal bossing, Posteriorly rotated ears, Abnormal cortical gyration, Sensorineural hearing impa...	ORPHA:2185
Ayme-Gripp Syndrome	Mandibular prognathia, Brachycephaly, Depressed nasal bridge, Short stature, Wide nasal bridge, M...	OMIM:601088
7Q31 Microdeletion Syndrome	Skeletal muscle atrophy, Prominent nose, Hypoplasia of the maxilla, Enuresis nocturna, Hypoplasia...	ORPHA:251061
Chromosome 3Q13.31 Deletion Syndrome	Epicanthus, Dolichocephaly, Alobar holoprosencephaly, Cryptorchidism, Brachycephaly, Plagiocephal...	OMIM:615433
Momo Syndrome	Delayed eruption of teeth, Frontal bossing, Epicanthus, Underfolded helix, Hyperconvex nail, Thic...	OMIM:157980
Papillorenal Syndrome	Renal cyst, Macular degeneration, Vesicoureteral reflux, Joint laxity, Multicystic kidney dysplas...	OMIM:120330
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Blepharophimosis-Impaired Intellectual Development Syndrome	Synophrys, Flexion contracture, Low anterior hairline, Short philtrum, Widely spaced teeth, Micro...	OMIM:619293
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cryptorchidism, Abnormal antihelix morphology, Chorioretinal coloboma, Hearing impairment	OMIM:274205
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Low anterior hairline, Brachycephaly, Downturned corners of mouth, High pa...	ORPHA:369891
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Short stature, R...	ORPHA:2863
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Hamartoma of tongue, Accessory oral frenulum, Congenital diaphragmatic he...	OMIM:616546
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Hypospadias, Renal agenesis, Congenital diaphragmatic hernia, Ovotesti...	OMIM:611812
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cleft upper lip, Cryptorchidism, Anosmi...	OMIM:244200
Noonan Syndrome 8	Curly hair, Epicanthus, Short stature, Ventricular septal defect, Cryptorchidism, Patent ductus a...	OMIM:615355
Coffin-Siris Syndrome 2	Low anterior hairline, High palate, Short philtrum, Dandy-Walker malformation, Hyperactivity, Ant...	OMIM:614607
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cleft lip, Sensorineural hearing impairment, Cryptorchidism, Anosm...	OMIM:612702
Alazami-Yuan Syndrome	Thin upper lip vermilion, Thick eyebrow, Hyperactivity, Dental crowding, Prominent nasal bridge, ...	OMIM:617126
Orofaciodigital Syndrome Type 14	Bilateral cryptorchidism, Epispadias, Partial agenesis of the corpus callosum, Aplasia of the epi...	ORPHA:434179
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxi...	OMIM:601390
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ectopic posterior pituitary, Hemifacial hypoplasia, Bilateral renal hypoplasia, C...	ORPHA:508488
Marcus-Gunn Syndrome	Unilateral ptosis, Abnormal ear morphology, Abnormal fifth cranial nerve morphology, Choanal atre...	ORPHA:91412
1Q21.1 Microduplication Syndrome	Frontal bossing, Hypospadias, Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity diso...	ORPHA:250994
Chime Syndrome	Depressed nasal ridge, Brachycephaly, Short philtrum, Microdontia, Sparse hair, Abnormal dental m...	ORPHA:3474
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Micrognathia, Brachyce...	OMIM:220210
Short Stature, Microcephaly, And Endocrine Dysfunction	Ectopic kidney, Long nose, Simplified gyral pattern, Sparse hair, Micropenis, Hypothyroidism, Lon...	OMIM:616541
Microcephaly 16, Primary, Autosomal Recessive	Telecanthus, Short stature, Hypermelanotic macule, Micrognathia, Cryptorchidism, Simplified gyral...	OMIM:616681
Williams-Beuren Region Duplication Syndrome	Short stature, Decreased response to growth hormone stimulation test, Unilateral renal agenesis, ...	OMIM:609757
3C Syndrome	Hypoplasia of penis, Adrenal hypoplasia, Micrognathia, High, narrow palate, Orofacial cleft, Abno...	ORPHA:7
Caudal Appendage-Deafness Syndrome	Cryptorchidism, Abnormal facial shape, Short stature, Infantile sensorineural hearing impairment	ORPHA:1123
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Micrognathia, Pica, Renal cyst, Protruding ear, High palate, Multicystic k...	OMIM:614527
Mosaic Trisomy 16	Abnormal ear morphology, Hypospadias, Ventricular septal defect, Maternal diabetes, Abnormality o...	ORPHA:1708
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Pierpont Syndrome	Brachycephaly, Large fleshy ears, Abnormal peripheral nervous system morphology, Widely spaced te...	OMIM:602342
Leopard Syndrome 1	Mandibular prognathia, Limited elbow movement, Depressed nasal ridge, Protruding ear, Aplasia of ...	OMIM:151100
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Bicuspid aortic valve, Abnormal size of the palpebral fissures, Abnormal facial shape, Patent for...	ORPHA:500159
Greig Cephalopolysyndactyly Syndrome	Frontal bossing, Hypospadias, Craniosynostosis, Abnormal muscle fiber morphology, Cryptorchidism,...	OMIM:175700
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Micrognathia, Downturned corners of mouth, High palate, Short philtrum, Abno...	ORPHA:284160
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Frontal bossing, Hypoplasia of penis, Hypospadias, Camptodacty...	ORPHA:1703
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Kallmann Syndrome	Hypoplasia of penis, Reduced bone mineral density, Micropenis, Hypogonadotropic hypogonadism, Cry...	ORPHA:478
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Mowat-Wilson Syndrome	Bifid scrotum, Mandibular prognathia, Dental crowding, Urinary incontinence, Uplifted earlobe, Bi...	ORPHA:2152
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, Brachycephaly, High palate, Micropenis, Pachygyria, Depressed nasal bridge, ...	OMIM:612513
15Q24 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Coloboma,...	ORPHA:94065
Renpenning Syndrome 1	Mandibular prognathia, Narrow face, Brittle hair, Micrognathia, Brachycephaly, Protruding ear, Co...	OMIM:309500
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Partial agenesis of the corpus callosum, Vesicoureteral reflux, Abnormal r...	OMIM:619103
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Abnormal pinna morphology, Anteverted nares, Depressed nasal bridge, Shor...	ORPHA:75389
Coffin-Siris Syndrome 1	Dry hair, Congenital diaphragmatic hernia, Conical tooth, Ectopic kidney, Partial agenesis of the...	OMIM:135900
Non-Distal Duplication 10Q	Low-set, posteriorly rotated ears, Frontal bossing, Depressed nasal bridge, Short stature, Microg...	ORPHA:1695
Radio-Tartaglia Syndrome	Dental crowding, Micrognathia, High, narrow palate, Synophrys, Low anterior hairline, High palate...	OMIM:619312
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia...	OMIM:612965
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Anteverted nares, Narrow nasal ridge, Bulbous nose, Renal hypoplasia, Renal cy...	OMIM:236500
Abruzzo-Erickson Syndrome	Atrial septal defect, Epicanthus, Hypospadias, Short stature, Cryptorchidism, Sensorineural heari...	ORPHA:921
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re...	ORPHA:1475
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, Diaphragmatic eventration, N...	OMIM:601186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Type II lissencephaly, Pachygyria, Hydrocephalus, Low anterior hairline, Simp...	OMIM:613153
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Mandibular prognathia, Dental crowding, Urinary incontinence, Uplifted earlobe, Bi...	ORPHA:261537
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Synophrys, Abnormal repetitive mannerisms, Joint laxity, Hyperactivity, Hy...	OMIM:617751
Hao-Fountain Syndrome	Aggressive behavior, Cryptorchidism, Abnormal facial shape, Low-set ears, Trigonocephaly, Prematu...	OMIM:616863
Mogs-Cdg	Absent brainstem auditory responses, External genital hypoplasia, Cardiomegaly, High palate, Atri...	ORPHA:79330
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cleft lip, Osteoporosis, Anosmia, Cleft palate, Bifid nose, Hyposm...	OMIM:614838
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Anteriorly placed anus, Thickened helices, Abnormality of the nail, Cloverleaf sku...	ORPHA:1555
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Hypospadias, Short stature, Ventricular septal defect, Pyloric stenosis, Patent ...	OMIM:218350
Intellectual Disability, Wolff Type	Microretrognathia, Hypospadias, Camptodactyly of finger, Cryptorchidism, Non-midline cleft lip, T...	ORPHA:3080
Desmosterolosis	Micrognathia, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Low-set, posteriorly rotated ...	ORPHA:35107
Syndromic X-Linked Intellectual Disability 7	Hypoplasia of penis, Abnormal dental morphology, Short stature, Cryptorchidism, Micropenis, Hypog...	ORPHA:85274
Endocardial Fibroelastosis	Low-set, posteriorly rotated ears, Hypoplasia of penis, Telecanthus, Micrognathia, Cryptorchidism...	ORPHA:2022
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Dental crowding, Micrognathia, Partial agenesis of the corpus callo...	OMIM:270400
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Frontal bossing, Micrognathia, Hydrocephalus, Optic atrophy, Dolichocephaly, Dandy-Walker malform...	ORPHA:1538
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Bifid scrotum, Flat occiput, Epispadias, Depressed nasal ridge, Brachycephaly, Eyelid coloboma, A...	ORPHA:2211
Split-Hand/Foot Malformation 3	Microretrognathia, Ridged nail, Abnormal pinna morphology, Hypoplasia of the maxilla, Renal hypop...	OMIM:246560
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Mandibular prognathia, Dental crowding, Urinary incontinence, Uplifted earlobe, Bi...	ORPHA:261552
Degcags Syndrome	Osteopenia, Micrognathia, Prominent nose, Oral-pharyngeal dysphagia, Synophrys, Bilateral renal h...	OMIM:619488
22Q11.2 Duplication Syndrome	Narrow face, Micrognathia, Depressed nasal ridge, Compulsive behaviors, Abnormal repetitive manne...	ORPHA:1727
Li-Campeau Syndrome	Ptosis, Telecanthus, Short stature, Ventricular septal defect, Cryptorchidism, Patent ductus arte...	OMIM:619189
Isolated Atp Synthase Deficiency	Hepatomegaly, Short stature, Sensorineural hearing impairment, Dilated cardiomyopathy, Optic atro...	ORPHA:254913
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Renal cyst, Lobulated tongue, Unicoronal synostosis, Dandy-Walker malformation, E...	OMIM:616300
Recombinant Chromosome 8 Syndrome	Micrognathia, Brachycephaly, Downturned corners of mouth, Atrial septal defect, Anteverted nares,...	OMIM:179613
46,Xy Sex Reversal 6	Hypospadias, Sparse axillary hair, Hirsutism, Sex reversal, Gonadal dysgenesis, Chordee, Dysgermi...	OMIM:613762
Orofaciodigital Syndrome Ix	Telecanthus, Median cleft lip, Short stature, Accessory oral frenulum, Abnormality of the dentiti...	OMIM:258865
Perlman Syndrome	Hypoplasia of penis, Micrognathia, High, narrow palate, Thickened helices, Hepatomegaly, Antevert...	ORPHA:2849
Leukoencephalopathy With Dystonia And Motor Neuropathy	Decreased motor nerve conduction velocity, Torticollis, Hypergonadotropic hypogonadism, Azoosperm...	OMIM:613724
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Midface retrusion, Ventriculomegaly, Anteverted nares, Micrognathia, Cryptorchidism, Hydrocephalu...	OMIM:618577
Fontaine Progeroid Syndrome	Mandibular prognathia, Small scrotum, Bicuspid aortic valve, Micrognathia, High, narrow palate, H...	OMIM:612289
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Impulsivity, Micrognathia, Aggressive behavior, Abnormal repetitive manner...	OMIM:618914
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Frontal bossing, Epicanthus, Short stature, Craniosynostosis, Micrognathia, Dolichocephaly, Under...	ORPHA:1516
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Micrognathia, Coloboma, Vesicoureteral reflux, Exaggerated cupid's bow, Hypospadias, Cryptorchidi...	OMIM:618659
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Frontal bossing, Alopecia, Decreased response to growth hormone stimulation test, Abnormality of ...	ORPHA:3363
Distal Deletion 12Q	Ectopic kidney, Micrognathia, High, narrow palate, Brachycephaly, Vesicoureteral reflux, Micropen...	ORPHA:96149
Rauch-Steindl Syndrome	Attached earlobe, Micrognathia, Bilateral renal hypoplasia, Protruding ear, Short philtrum, Abnor...	OMIM:619695
Distal Limb Deficiencies-Micrognathia Syndrome	Low-set, posteriorly rotated ears, Microretrognathia, Renal insufficiency, Proteinuria, Tarsal sy...	ORPHA:1307
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ...	OMIM:228300
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Conical tooth, Brachycephaly, Agenesis of corpus callosum, Encephalocele, Alopecia...	ORPHA:228390
Branchiootorenal Syndrome 1	Branchial cyst, Narrow face, High palate, Conductive hearing impairment, Vesicoureteral reflux, M...	OMIM:113650
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Sparse hair, S...	OMIM:181270
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Congenital diaphragmatic hernia, Micrognathia, Brachycephaly, Simplified ...	ORPHA:96121
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Micrognathia, Protruding ear, High palate, Short philtrum, Abnormal repetitive m...	OMIM:618342
Rere-Related Neurodevelopmental Syndrome	Micrognathia, Chorioretinal coloboma, Vesicoureteral reflux, Abnormal facial shape, Iris coloboma...	ORPHA:494344
Dworschak-Punetha Neurodevelopmental Syndrome	Ptosis, Peripheral axonal neuropathy, Depressed nasal bridge, Optic disc hypoplasia, Dysplastic c...	OMIM:619955
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
14Q22Q23 Microdeletion Syndrome	Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Micrognathia, Brachycephaly, Do...	ORPHA:264200
Meckel Syndrome 12	Anteverted nares, Ureteral hypoplasia, Micrognathia, Renal hypoplasia, Wide nasal bridge, Antecub...	OMIM:616258
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Frontal bossing, Depressed nasal bridge, Short stature, Unilateral renal agenesis, Rhizomelia, Pa...	OMIM:617661
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Micrognathia, Hypoplastic toenails, Brachycephaly, Tubulointerstitial nephritis, Widely spaced te...	ORPHA:459061
Developmental And Epileptic Encephalopathy 36	Microretrognathia, Hepatomegaly, Coarse facial features, Anteverted nares, Hydrocephalus, Flexion...	OMIM:300884
Noonan Syndrome	Micrognathia, Abnormality of the spleen, Coarse hair, High palate, Thickened helices, Low-set, po...	ORPHA:648
Temple Syndrome	Decreased testicular size, Frontal bossing, Wide nose, Posteriorly rotated ears, Anteverted nares...	OMIM:616222
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism, Renal agenesis, Unilateral cryptorchidism	OMIM:219050
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Hydrocephalus, Ging...	ORPHA:1008
Cri-Du-Chat Syndrome	Narrow face, Orofacial cleft, Downturned corners of mouth, Premature graying of hair, High palate...	OMIM:123450
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Ureteral duplication, Frontal bossing, Ventricular septal defe...	ORPHA:1926
Acitretin/Etretinate Embryopathy	Aplasia/Hypoplasia of the maxilla, Epicanthus, Anteverted nares, Abnormal retinal morphology, Mic...	ORPHA:40366
Fanconi Anemia, Complementation Group I	Atrial septal defect, Short stature, Decreased response to growth hormone stimulation test, Optic...	OMIM:609053
German Syndrome	Micrognathia, Synophrys, Brachycephaly, Orofacial cleft, High palate, Depressed nasal bridge, Sho...	ORPHA:2077
Cantu Syndrome	Coarse facial features, Epicanthus, Anteverted nares, Depressed nasal bridge, Bicuspid aortic val...	OMIM:239850
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Low anterior hairline,...	OMIM:619950
Fg Syndrome Type 1	Dental crowding, Micrognathia, Prominent nose, Generalized joint laxity, Fused teeth, High palate...	ORPHA:93932
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Pierpont Syndrome	Uplifted earlobe, Brachycephaly, Widely spaced teeth, Joint laxity, Cryptorchidism, Long upper li...	ORPHA:487825
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Holzgreve Syndrome	Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hypoplastic left heart	OMIM:236110
Gordon Syndrome	Decreased muscle mass, Short stature, Camptodactyly of finger, Hearing impairment, Cryptorchidism...	ORPHA:376
Tonne-Kalscheuer Syndrome	Narrow face, Congenital diaphragmatic hernia, Micrognathia, Prominent nose, Downturned corners of...	OMIM:300978
Triploidy	Low-set, posteriorly rotated ears, Hepatomegaly, Hypoplasia of penis, Hypospadias, Intestinal mal...	ORPHA:3376
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Gómez-López-Hernández Syndrome	Turricephaly, Telecanthus, Anteverted nares, Short stature, Hydrocephalus, Brachycephaly, Thin ve...	ORPHA:1532
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Cryptorchidism, Osteoporosis, Anosmia, Primary amenorrhea, Cleft palate, Small pituit...	OMIM:614880
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Protruding ear, Abnormal facial shape, Spina bifida occulta, Multicystic k...	ORPHA:500095
Distal Monosomy 7Q36	Large face, Hypoplasia of penis, Short stature, Micrognathia, Cryptorchidism, Non-midline cleft l...	ORPHA:1636
Fetal Trimethadione Syndrome	Atrial septal defect, Epicanthus, Hypospadias, Depressed nasal bridge, Ventricular septal defect,...	ORPHA:1913
Joubert Syndrome 26	Frontal bossing, Anteverted nares, Decreased response to growth hormone stimulation test, Short s...	OMIM:616784
48,Xxyy Syndrome	Hypoplasia of penis, Flat occiput, Chronic otitis media, Abnormal repetitive mannerisms, Long fac...	ORPHA:10
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Cleft pala...	ORPHA:1135
Lateral Meningocele Syndrome	Decreased muscle mass, Dental crowding, Bicuspid aortic valve, Micrognathia, Coarse hair, High pa...	OMIM:130720
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Polydipsia, Polyuria, Dextrocar...	OMIM:615994
Koolen-De Vries Syndrome	Ureteral duplication, Bicuspid aortic valve, High, narrow palate, Protruding ear, Vesicoureteral ...	ORPHA:96169
Fetal Minoxidil Syndrome	Low-set, posteriorly rotated ears, Depressed nasal bridge, Ventricular septal defect, Micrognathi...	ORPHA:1918
3Q13 Microdeletion Syndrome	Hypoplasia of penis, Epicanthus, Anteverted nares, Joint stiffness, Cryptorchidism, Wide nasal br...	ORPHA:1621
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Anosmia, Primary ...	OMIM:610628
Short-Rib Thoracic Dysplasia 12	Lobulated tongue, Holoprosencephaly, Neonatal death, Patent foramen ovale, Hepatomegaly, Hamartom...	OMIM:269860
Coenzyme Q10 Deficiency, Primary, 8	Postnatal growth retardation, Flexion contracture, Abnormal renal corticomedullary differentiatio...	OMIM:616733
Usher Syndrome, Type 1M	Optic disc pallor, Abnormal vestibular function, Drusen, Prelingual sensorineural hearing impairm...	OMIM:618632
46,Xy Sex Reversal 8	Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia	OMIM:614279
Joubert Syndrome 15	Retinal dystrophy, Exencephaly, Coloboma, Nephronophthisis, Ambiguous genitalia, Micropenis, Reti...	OMIM:614464
Chung-Jansen Syndrome	Round face, Thick eyebrow, Anteverted nares, Epicanthus, Impulsivity, Micrognathia, Aggressive be...	OMIM:617991
Wiedemann-Steiner Syndrome	Elbow hypertrichosis, Micrognathia, Synophrys, High palate, Atrial septal defect, Generalized hir...	OMIM:605130
Aarskog-Scott Syndrome	Hypoplasia of the maxilla, Orofacial cleft, Abnormal vertebral segmentation and fusion, Low-set, ...	ORPHA:915
Fried Syndrome	Skeletal muscle atrophy, Coarse facial features, Hearing impairment, Aggressive behavior, Hydroce...	ORPHA:85335
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Coarse facial features, Epicanthus, Anteverted nares, Cardiomegaly, Spl...	OMIM:269920
Coffin-Siris Syndrome 8	Thin upper lip vermilion, Sparse scalp hair, Hyperactivity, Anteverted nares, Ptosis, Aggressive ...	OMIM:618362
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortica...	OMIM:611555
Congenital Myopathy 19	Skeletal muscle atrophy, Ptosis, Triangular face, Posteriorly rotated ears, Facial hypotonia, Mic...	OMIM:618578
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Nephropathy, Nephrolithiasis, Hematuria, A...	ORPHA:2196
Mcdonough Syndrome	Low-set, posteriorly rotated ears, Mandibular prognathia, Short stature, Micrognathia, Open bite,...	ORPHA:2471
Renpenning Syndrome	Mandibular prognathia, Skeletal muscle atrophy, Narrow face, Prominent nose, High, narrow palate,...	ORPHA:3242
Lowry-Maclean Syndrome	Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Bilateral cryptorchidism, High, narrow...	ORPHA:2409
Chromosome 15Q26-Qter Deletion Syndrome	Hypospadias, Short stature, Micrognathia, Cryptorchidism, Wide nasal bridge, Abnormal cardiac sep...	OMIM:612626
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Mi...	OMIM:611890
Smith-Magenis Syndrome	Mandibular prognathia, Synophrys, Brachycephaly, Orofacial cleft, Abnormal repetitive mannerisms,...	OMIM:182290
Intellectual Developmental Disorder, Autosomal Dominant 26	Micrognathia, Deep philtrum, Brachycephaly, Short philtrum, Hyperactivity, Anteverted nares, Depr...	OMIM:615834
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, Cardiomegaly, B...	OMIM:245600
Moebius Syndrome	Skeletal muscle atrophy, Micrognathia, Aplasia of the pectoralis major muscle, High palate, Micro...	ORPHA:570
2Q32Q33 Microdeletion Syndrome	Dental crowding, Micrognathia, Brachycephaly, Oligodontia, High palate, Sparse hair, Long face, A...	ORPHA:251019
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Micrognathia, Brachycephaly, Renal cyst, Atrial septal defect, Micropenis, Agenesi...	OMIM:257300
Trisomy 20P	Micrognathia, Low anterior hairline, Brachycephaly, Protruding ear, Downturned corners of mouth, ...	ORPHA:261318
Cerebrooculonasal Syndrome	Brachycephaly, Downturned corners of mouth, High palate, Conductive hearing impairment, Iris colo...	OMIM:605627
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle...	ORPHA:169186
Microcephaly 20, Primary, Autosomal Recessive	Short stature, Optic nerve hypoplasia, Renal hypoplasia, Simplified gyral pattern, Microlissencep...	OMIM:617914
12Q14 Microdeletion Syndrome	Skeletal muscle atrophy, Ectopic kidney, Micrognathia, Abnormality of the spleen, Synophrys, Down...	ORPHA:94063
Holoprosencephaly 5	Anteverted nares, Depressed nasal bridge, Central diabetes insipidus, Alobar holoprosencephaly, S...	OMIM:609637
Trisomy 1Q	Small scrotum, Congenital diaphragmatic hernia, Hypoplastic toenails, Agenesis of corpus callosum...	ORPHA:261344
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cleft lip, Sensorineural hearing impairment, Cryptorchidism, Anosm...	OMIM:612370
Walker-Warburg Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Chorioretinal dysplasia, Protruding ear, Abnormal o...	ORPHA:899
46,Xy Sex Reversal 9	Sex reversal, Gonadal dysgenesis, Fused labia minora, Ambiguous genitalia	OMIM:616067
Filippi Syndrome	Ambiguous genitalia, Ventricular septal defect, Underdeveloped nasal alae, Postnatal growth retar...	OMIM:272440
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Hypospadias, Facial palsy, Spinal muscular atrophy, Micrognathia, Cr...	OMIM:301830
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Depressed nasal bridge, Micrognathia, Cryptorchidism, Bulbous nose, Optic atrophy, Thin vermilion...	OMIM:618766
Isolated Follicle Stimulating Hormone Deficiency	Gonadotropin deficiency, Decreased serum estradiol, Male hypogonadism, Hypogonadotropic hypogonad...	ORPHA:52901
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Round face, Hypopigmentation of hair, Anteverted nares, Hypospadias, Short stature, Generalized h...	ORPHA:1355
Suleiman-El-Hattab Syndrome	Synophrys, Protruding ear, Downturned corners of mouth, High palate, Atrial septal defect, Fronta...	OMIM:618950
Schuurs-Hoeijmakers Syndrome	Bicuspid aortic valve, Synophrys, Low anterior hairline, Downturned corners of mouth, Patent fora...	OMIM:615009
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Hypoplasia of the semicircular canal, Heterochromia iridis, ...	OMIM:609136
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Short stature, Absent facial hair, Sparse facial hair, High, narr...	ORPHA:2183
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Bifid scrotum, Thin upper lip vermilion, Hypoplasia of penis, Telecanthus, Hypogonadotropic hypog...	ORPHA:1295
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Cleft lip, Osteoporosis, Delayed puberty, Hyposmia, Hearing impairment	OMIM:615271
Fanconi Anemia, Complementation Group L	Micrognathia, Anotia, Micropenis, Esophageal atresia, Renal hypoplasia, Wide nasal bridge, Microt...	OMIM:614083
Intellectual Disability-Strabismus Syndrome	Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Micrognat...	ORPHA:363528
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Micrognathia, Aqueductal stenosis, Partial agenesis of the corpus callosum...	OMIM:619512
Distal Deletion 10P	Low-set, posteriorly rotated ears, Hypoplasia of penis, Short stature, Abnormal fingernail morpho...	ORPHA:1580
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Abnormal number of incisors, Epicanthus, Prominent nose, Cryptorchidism, Osteoporosis, Abnormal f...	ORPHA:2958
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Sy...	ORPHA:261494
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Cryptor...	ORPHA:2075
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Round face, Transient neutropenia, Ventricular septal defect, Epicanthus, Sens...	OMIM:617107
Kbg Syndrome	Congenital malformation of the left heart, Synophrys, Widely-spaced maxillary central incisors, O...	ORPHA:2332
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Short lingual frenulum, Hypogonadotropic hypogonadism, Renal agenesis, Partial anosmi...	ORPHA:2326
2Q23.1 Microdeletion Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Macrodontia, Coarse facial features, Short statu...	ORPHA:228402
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmi...	OMIM:614841
Bosma Arhinia Microphthalmia Syndrome	Absent tragus, Synophrys, Coloboma, High palate, Aplasia of the nose, Conductive hearing impairme...	OMIM:603457
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Glue ear, Absence of renal corticomedullary differentiation, Broad nasal tip, Bifid nasal tip, Se...	OMIM:619758
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting, Adrenocorticotropic hormone excess, Sex reversal, Hyperaldosteronism, Adrenal...	OMIM:613743
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Tented upper lip vermilion, Micrognathia, Deep philtrum, High palate, Long face, Medial flaring o...	OMIM:619833
Fraser Syndrome	Hypoplasia of penis, Small scrotum, Dental crowding, Cleft ala nasi, Calvarial skull defect, Orof...	ORPHA:2052
Trisomy 5P	Frontal bossing, Hypoplasia of penis, Round face, Short stature, Renal hypoplasia/aplasia, Protru...	ORPHA:1742
Cornelia De Lange Syndrome 2	Limited elbow movement, Micrognathia, Synophrys, Low anterior hairline, Brachycephaly, Downturned...	OMIM:300590
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Absence o...	OMIM:614837
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Septo-optic dysplasia, Diabetes insipidus, Anterior pituitary hypoplasia, Op...	ORPHA:3157
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Decreased motor nerve conduction velocity, Thin upper lip vermilion, Slender nose, Skeletal muscl...	OMIM:615419
Chromosome 19Q13.11 Deletion Syndrome, Distal	Bifid scrotum, Micrognathia, Short philtrum, Sparse hair, Long face, Hypospadias, Anteverted nare...	OMIM:613026
Cranioectodermal Dysplasia 2	Unilateral ptosis, Micrognathia, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Micro...	OMIM:613610
Distal Triplication 15Q	Micrognathia, Flexion contracture, High palate, Atrial septal defect, Abnormal facial shape, Dand...	ORPHA:314588
Arthrogryposis, Distal, Type 1C	Pursed lips, Hip contracture, Short stature, Shoulder flexion contracture, Camptodactyly of finge...	OMIM:619110
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bicuspid aortic valve, Synophrys, Low anterior hairline, Protruding ear, Downturned corners of mo...	ORPHA:329224
Frontonasal Dysplasia 1	Hypoplasia of the maxilla, Widely-spaced maxillary central incisors, Pectoral muscle hypoplasia/a...	OMIM:136760
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Coarse facial features, Anteverted nares, Ventricular septal defect, Protruding tongue, Hypoplast...	OMIM:612938
Noonan Syndrome 13	Micrognathia, High palate, Widely spaced teeth, Atrial septal defect, Microdontia, Generalized hi...	OMIM:619087
Testicular Anomalies With Or Without Congenital Heart Disease	Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge...	OMIM:615542
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Flexion contracture of finger, Flat occiput, Depressed nasal bridge, Postnatal growth retardation...	ORPHA:319332
X-Linked Intellectual Disability, Siderius Type	Cleft upper lip, Broad nasal tip, Cryptorchidism, Synophrys, Orofacial cleft, Low posterior hairl...	ORPHA:85287
Borjeson-Forssman-Lehmann Syndrome	Coarse facial features, Short stature, Cryptorchidism, Hypoplasia of the prostate, Narrow palpebr...	OMIM:301900
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Epicanthus, Short lingual frenulum, Hypospadias, Short stature, Short uvula, Renal hypoplasia, Cl...	OMIM:614091
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Flexion contracture, Downturned corners of mouth, Micropenis, Alopecia, Short stature, Cleft soft...	OMIM:619321
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Coffin-Siris Syndrome 3	High palate, Dandy-Walker malformation, Joint laxity, Anteverted nares, Depressed nasal bridge, S...	OMIM:614608
Crouzon Syndrome	Frontal bossing, Turricephaly, Ptosis, Choanal atresia, Convex nasal ridge, Hypoplasia of the max...	ORPHA:207
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Mandibular prognathia, Simplified gyral pattern, Micropenis, Joint laxity, Distal lower limb amyo...	OMIM:300354
Mehmo Syndrome	Decreased response to growth hormone stimulation test, Broad nasal tip, Aggressive behavior, Clef...	OMIM:300148
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Abnormality of neuronal migration, Attention deficit hyperactivity disorder, Abnor...	OMIM:618709
Muscle Filaminopathy	Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m...	ORPHA:171445
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Abnormality of the dentition, Osteoporosis, Anosmia, Absence of pubertal development,...	OMIM:615267
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Small scrotum, Micrognathia, Widely-spaced maxillary central incisors...	OMIM:309580
Kleefstra Syndrome 1	Mandibular prognathia, Synophrys, Brachycephaly, Conotruncal defect, Compulsive behaviors, Microp...	OMIM:610253
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Decreased response to growth hormone stimulation test, Prominent nose, Low...	OMIM:601808
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Dental crowding, Hypospadias, Anteverted nares, Micrognathia, Depressed...	OMIM:615761
Renal And Mullerian Duct Hypoplasia	Frontal bossing, Micrognathia, Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly d...	OMIM:266810
Joubert Syndrome 14	Tented upper lip vermilion, Renal cyst, Coloboma, Short philtrum, Dandy-Walker malformation, Ence...	OMIM:614424
King-Denborough Syndrome	Ptosis, Short stature, Ventricular septal defect, Broad nasal tip, Bilateral cryptorchidism, Cryp...	OMIM:619542
Coffin-Siris Syndrome 7	Bicuspid aortic valve, Severe temper tantrums, Downturned corners of mouth, Short philtrum, Compu...	OMIM:618027
Aminopterin Syndrome Sine Aminopterin	Frontal bossing, Posteriorly rotated ears, Short stature, Highly arched eyebrow, Micrognathia, Cr...	OMIM:600325
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Downturned corners of mouth, Atrial septal defect, Abnormal facial shape, Low-set, posteriorly ro...	ORPHA:457193
Noonan Syndrome 10	Curly hair, Epicanthus, Short stature, Ventricular septal defect, Sparse eyebrow, Cryptorchidism,...	OMIM:616564
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Thin upper lip vermilion, Short stature, Interphalangeal joint contracture of finger, Widow's pea...	OMIM:606242
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Thin upper lip vermilion, Thick eyebrow, Abnormal pinna morphology, Perianal abscess, Cryptorchid...	OMIM:614684
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Multiple pterygia, Micrognathia, Abn...	ORPHA:2990
Aicardi-Goutieres Syndrome 9	Micropenis, Hypothyroidism, Self-mutilation, Hemolytic anemia, Hepatomegaly, Pericardial effusion...	OMIM:619487
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral...	OMIM:308750
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Synophrys, Renal cyst, High palate, Conductive ...	OMIM:102500
Fanconi Anemia	Micrognathia, Abnormal eyelid morphology, Reduced bone mineral density, Abnormality of skin pigme...	ORPHA:84
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dental crowding, Anterior pituitary hypoplasia, Prominent nose, Bilateral cryptorchidism, High, n...	ORPHA:466791
Cardiofaciocutaneous Syndrome	Brittle hair, High palate, Biparietal narrowing, Atrial septal defect, Thickened helices, Sparse ...	ORPHA:1340
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Ventricular septal defect, Recurrent frac...	ORPHA:2772
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Epicanthus, Anteverted nares, Impulsivity, Broad nasal tip, Almond-shaped palpebral fissure, Cryp...	ORPHA:589905
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Narrow face, Flat occiput, Dental crowding, External genital hypoplasia, Micrognathia...	ORPHA:251028
Cleft Palate-Large Ears-Small Head Syndrome	Skeletal muscle atrophy, Hypospadias, Short stature, Micrognathia, Hypoplastic toenails, Gingival...	ORPHA:2013
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Dental crowding, Hyperautofluorescent macular lesion, Hi...	OMIM:209900
Coffin-Siris Syndrome 6	Micrognathia, High, narrow palate, Deep philtrum, Short philtrum, Tics, Atrial septal defect, Con...	OMIM:617808
Ohdo Syndrome	Small scrotum, Micrognathia, Widely spaced teeth, Joint laxity, Anteverted nares, Depressed nasal...	OMIM:249620
Blepharonasofacial Malformation Syndrome	Wide nose, Epicanthus, Telecanthus, Underdeveloped nasal alae, External ear malformation, Cryptor...	ORPHA:1252
Microcephalic Primordial Dwarfism, Montreal Type	Low-set, posteriorly rotated ears, Abnormal hair quantity, Severe short stature, Micrognathia, Op...	ORPHA:2617
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Micrognathia, Hypoplastic toenails, Depressed nasal ridge, Protruding ear,...	ORPHA:261337
Squalene Synthase Deficiency	Epicanthus, Hypospadias, Posteriorly rotated ears, Optic nerve hypoplasia, Micrognathia, Bilatera...	OMIM:618156
Eec Syndrome	Decreased response to growth hormone stimulation test, Xerostomia, Orofacial cleft, Urethral atre...	ORPHA:1896
Cln3 Disease	Bull's eye maculopathy, Aggressive behavior, Vacuolated lymphocytes, Optic atrophy, Increased cir...	ORPHA:228346
Temple Syndrome	Few cafe-au-lait spots, Frontal bossing, Short stature, Decreased response to growth hormone stim...	ORPHA:254516
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Micrognathia, Secundum atrial septal defect, Deep philtrum, Short philtrum, Vesicoureteral reflux...	OMIM:619951
Chromosome 10Q26 Deletion Syndrome	Small scrotum, Micrognathia, Prominent nose, Protruding ear, High palate, Vesicoureteral reflux, ...	OMIM:609625
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome	Low-set, posteriorly rotated ears, Coarse facial features, Small scrotum, Thick eyebrow, Epicanth...	ORPHA:1970
Birk-Landau-Perez Syndrome	Ptosis, Stage 3 chronic kidney disease, Renal insufficiency, Facial hypotonia, Optic atrophy, Ren...	OMIM:617595
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Prominent nasal bridge, Anisocytosis, Micrognathia, Dysplastic corpus callosum, Fle...	OMIM:604273
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Hydrocephalus, Elbow flexion contracture, Optic atrophy, Simp...	OMIM:619470
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Micrognathia, Prominent nose, Partial agenesis of t...	OMIM:305450
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Flat occiput, Anteriorly placed anus, High palate, Choanal stenosis, Agenesis of c...	OMIM:123790
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Synophrys, High palate, Short philtrum, Thickened helices, Micropenis, Atrioventricular canal def...	OMIM:618929
Coffin-Siris Syndrome	Low anterior hairline, Simplified gyral pattern, Papillary thyroid carcinoma, Atrial septal defec...	ORPHA:1465
Intellectual Developmental Disorder, Autosomal Dominant 21	Ventriculomegaly, Epicanthus, Posteriorly rotated ears, Short stature, Narrow mouth, Patent ductu...	OMIM:615502
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tented upper lip vermilion, Micrognathia, Renal cyst, Neutropenia, Vesicour...	OMIM:618460
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:613424
Jacobsen Syndrome	Flat occiput, Micrognathia, Flexion contracture, Clitoral hypoplasia, Eyelid coloboma, Holoprosen...	OMIM:147791
Intellectual Developmental Disorder, Autosomal Dominant 65	Tented upper lip vermilion, Micrognathia, Synophrys, Downturned corners of mouth, Short philtrum,...	OMIM:619320
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Diabetes insipidus, Short stature, Retinal dystrophy, Underdeveloped nasal ala...	ORPHA:423479
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Decreased muscle mass, Small scrotum, Anteverted nares...	OMIM:615663
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Elbow contr...	OMIM:617201
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Mandibular prognathia, Ptosis, Short stature, Highly arched eyebrow, Synophrys, Thick lower lip v...	ORPHA:2057
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Asymmetric crying face, Short stature, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia,...	ORPHA:1166
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Flat occiput, Flexion contracture, Brachycephaly, Protruding ear, High palate, Atrial septal defe...	OMIM:617452
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Epicanthus, Sensorineural hearing impairment, Optic atrophy, Upslanted p...	OMIM:620086
Diencephalic Syndrome	Macrotia, Long penis, Optic atrophy, Hydrocephalus, Everted lower lip vermilion, Abnormality of t...	ORPHA:1672
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Micrognathia, Prelingual sensorineural hearing impairment, Low anterior hairline, Congenital bila...	ORPHA:73272
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi...	OMIM:101800
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Osteopenia, Thick eyebrow, Epicanthus, Anteverted nares, Depressed nasal bridge, Telecanthus, Spa...	OMIM:617268
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Ventriculomegaly	OMIM:115210
Trisomy 13	High, narrow palate, Atrial septal defect, Intrauterine growth retardation, Iris coloboma, Abnorm...	ORPHA:3378
Ritscher-Schinzel Syndrome 4	Brachycephaly, High palate, Short philtrum, Micropenis, Abnormal repetitive mannerisms, Agenesis ...	OMIM:619435
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Telecanthus, Short stature, Cryptorchidis...	ORPHA:3055
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Secundum atrial septal defect, Flexion contracture, Brachycephaly, Downturned corne...	OMIM:264090
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Neutropenia, Abnormal facial shape, Retinal degeneration, Long face, Glomer...	ORPHA:79282
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Narrow face, Micrognathia, Downturned corners of mouth, Choanal stenosis, Severe ...	OMIM:620186
Xq27.3Q28 Duplication Syndrome	Short stature, Cryptorchidism, Bulbous nose, Thin vermilion border, Hypogonadism, Sparse body hai...	ORPHA:261483
Trisomy 18P	Telecanthus, Abnormal pinna morphology, Facial palsy, Short stature, Micrognathia, Bilateral cryp...	ORPHA:1715
Fanconi Anemia, Complementation Group F	Atrial septal defect, Short stature, Decreased response to growth hormone stimulation test, Hyper...	OMIM:603467
Cataract-Intellectual Disability-Hypogonadism Syndrome	Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Depressed nasal bridge, Short s...	ORPHA:1387
Kabuki Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Orofacial cleft, Protruding ear, Coloboma, ...	ORPHA:2322
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Short lingual frenulum, Pica, Downturned corners of mouth, Short philtrum, Microdontia, Atrial se...	OMIM:617360
6Q25 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Abnormal pinna morphology, External genital hypopl...	ORPHA:251056
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Bicuspid aortic valve, Hooded eyelid, Limited elbow movement, Micrognathia, Synophrys, Low anteri...	OMIM:610759
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal s...	ORPHA:2363
Chromosome 6Q24-Q25 Deletion Syndrome	Hooded eyelid, High, narrow palate, Anteriorly placed anus, Right ventricular dilatation, High pa...	OMIM:612863
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Hypoplastic toenails, Low anterior hairline, Downturned corners of mouth, High palate, Atrial sep...	OMIM:220500
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Micrognathia, Synophrys, Low anterior hairline, Oligodontia, High palate, Short ...	OMIM:617061
Marden-Walker Syndrome	Skeletal muscle atrophy, Micrognathia, Epispadias, Agenesis of corpus callosum, Bifid uvula, Abno...	ORPHA:2461
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Small scrotum, Posteriorly rotated ears, Camptodactyly of finger, Prominent ...	ORPHA:2083
Carpenter Syndrome 1	External genital hypoplasia, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, High palate,...	OMIM:201000
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Brachycephaly, Short ...	ORPHA:819
Seckel Syndrome 5	Hypospadias, Selective tooth agenesis, Prominent nasal bridge, Micrognathia, Short stature, Crypt...	OMIM:613823
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Crossed fused renal ectopia, Depressed nasal bridge, Hypoplastic right hear...	OMIM:618142
Andersen-Tawil Syndrome	Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti...	ORPHA:37553
Takenouchi-Kosaki Syndrome	Synophrys, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Abnormal facial shap...	OMIM:616737
Mehmo Syndrome	Hypoplasia of penis, Round face, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, ...	ORPHA:85282
Hypotonia-Cystinuria Syndrome	Frontal bossing, Tented upper lip vermilion, Posteriorly rotated ears, Decreased response to grow...	OMIM:606407
Steinfeld Syndrome	Absent gallbladder, Median cleft lip and palate, Abnormal pinna morphology, Abnormal heart morpho...	OMIM:184705
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Wide nasal bridg...	OMIM:618393
Mitochondrial Complex I Deficiency, Nuclear Type 6	Optic disc pallor, Skeletal muscle atrophy, Optic atrophy, Left ventricular hypertrophy, Hypertro...	OMIM:618228
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Abnormality of the subungual region, Splenic rupture, Micropenis, Gingi...	ORPHA:335
Chromosome 6Q11-Q14 Deletion Syndrome	Joint laxity, Thin upper lip vermilion, Epicanthus, Short stature, Prominent nasal bridge, Microg...	OMIM:613544
Beemer Lethal Malformation Syndrome	Ambiguous genitalia, Hydrocephalus, Wide nasal bridge, Thrombocytopenia	OMIM:209970
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micrognathia, Prominent nose, Partial agenesis of the corpus callosum, Delayed epiphyseal ossific...	OMIM:210710
Legius Syndrome	Inguinal freckling, Epicanthus, Posteriorly rotated ears, Micrognathia, High, narrow palate, Axil...	OMIM:611431
Distal Duplication 15Q	Congenital muscular torticollis, Ptosis, Camptodactyly of finger, Prominent nasal bridge, Microgn...	ORPHA:1707
8Q22.1 Microdeletion Syndrome	Hypoplasia of the maxilla, Depressed nasal ridge, Underfolded helix, Highly arched eyebrow, Spars...	ORPHA:178303
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Micrognathia, Microdontia, Atrial septal defect, Sparse hair, Hypothyro...	OMIM:620005
Wilson-Turner Syndrome	Thin upper lip vermilion, Hypogonadotropic hypogonadism, Short stature, Uplifted earlobe, Microgn...	ORPHA:3459
Pontocerebellar Hypoplasia, Type 7	Skeletal muscle atrophy, Hypopigmentation of the skin, Epicanthus, Micrognathia, Broad nasal tip,...	OMIM:614969
Weaver Syndrome	Low-set, posteriorly rotated ears, Deep-set nails, Hypoplasia of penis, Round face, Abnormal fing...	ORPHA:3447
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu...	OMIM:278850
Neurofibromatosis-Noonan Syndrome	Low-set, posteriorly rotated ears, Short stature, Cryptorchidism, Abnormality of the lymphatic sy...	ORPHA:638
N Syndrome	Cryptorchidism, Hypospadias, Bilateral sensorineural hearing impairment, Abnormal eyelid morphology	ORPHA:2608
Gabriele-De Vries Syndrome	Micrognathia, High palate, Finger joint hypermobility, Patent foramen ovale, Simple ear, Sparse e...	OMIM:617557
Monosomy 18Q	Mandibular prognathia, Prominent nose, Bilateral cryptorchidism, Secundum atrial septal defect, L...	ORPHA:1600
Chromosome 16Q22 Deletion Syndrome	Frontal bossing, Epicanthus, Posteriorly rotated ears, Hypospadias, Depressed nasal bridge, Micro...	OMIM:614541
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Ptosis, Epicanthus, Short stature, Prominent nasal bridge, Abn...	ORPHA:1131
Prieto Syndrome	Epicanthus, Abnormality of the dentition, Prominent nose, Cryptorchidism, Osteoporosis, Low-set e...	OMIM:309610
Sifrim-Hitz-Weiss Syndrome	Anteriorly placed anus, Atrial septal defect, Vesicoureteral reflux, Micropenis, Bifid uvula, Hyp...	OMIM:617159
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex...	OMIM:400045
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Hyperactivity, Restlessness, Anteverted nares, Prominent nasal bridge, ...	OMIM:300558
16P12.1P12.3 Triplication Syndrome	Unilateral ptosis, Decreased response to growth hormone stimulation test, Bilateral cryptorchidis...	ORPHA:485405
Ulnar-Mammary Syndrome	Hypoplasia of penis, Short stature, Camptodactyly of finger, Ventricular septal defect, Abnormal ...	ORPHA:3138
Joubert Syndrome 37	Frontal bossing, Wide nose, Hepatomegaly, Posteriorly rotated ears, Anteverted nares, Short statu...	OMIM:619185
Bainbridge-Ropers Syndrome	Dental crowding, Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of th...	OMIM:615485
Hiatt-Neu-Cooper Neurodevelopmental Syndrome	Thin upper lip vermilion, Epicanthus, Posteriorly rotated ears, Exaggerated cupid's bow, Antevert...	OMIM:619311
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Bicuspid aortic valve, Downturned corners of mouth, Coloboma, Oligodontia, High palat...	ORPHA:453499
Mucolipidosis Type Ii	Dry hair, White hair, Knee flexion contracture, Otitis media, Shallow orbits, Conductive hearing ...	ORPHA:576
Koolen-De Vries Syndrome	Bicuspid aortic valve, Anteverted ears, High palate, Widely spaced teeth, Vesicoureteral reflux, ...	OMIM:610443
Okamoto Syndrome	Facial hypertrichosis, Tented upper lip vermilion, Urinary incontinence, Primum atrial septal def...	ORPHA:2729
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Ventriculomegaly, Anteverted nares, Renal hypoplasia, Upslanted palpebr...	OMIM:613735
Distal Duplication 18Q	Low-set, posteriorly rotated ears, Hypoplasia of penis, Round face, Abnormal dental morphology, C...	ORPHA:1716
Exstrophy-Epispadias Complex	Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera...	ORPHA:322
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Short stature, Anosmia, Epiphyseal stippling, Hypogonadism, Short nose, S...	OMIM:302950
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Hypoplasia of penis, Skeletal muscle atrophy, Abnormal pinna morpholog...	ORPHA:3068
Noonan Syndrome 5	Mandibular prognathia, Atrial septal defect, Thickened helices, Abnormal facial shape, Depressed ...	OMIM:611553
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Borjeson-Forssman-Lehmann Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Coarse facial features, Short statur...	ORPHA:127
Intellectual Developmental Disorder, Autosomal Recessive 65	Ptosis, Square face, Hypospadias, Abnormal pinna morphology, Supernumerary nipple, Prominent nasa...	OMIM:618109
Central Precocious Puberty In Male	Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Hydrocephalus, Abnor...	ORPHA:649929
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Ptosis, Telecanthus, Abnormal pinna morphology, Short stature, Highly a...	OMIM:614583
19P13.12 Microdeletion Syndrome	Synophrys, Brachycephaly, Atrial septal defect, Conductive hearing impairment, Hypothyroidism, Ge...	ORPHA:254346
Oculocerebrocutaneous Syndrome	Alopecia, Cleft ala nasi, Cryptorchidism, Orbital encephalocele, Orbital cyst, Cleft palate, Gray...	OMIM:164180
Refsum Disease, Classic	Cardiomegaly, Rod-cone dystrophy, Sensorineural hearing impairment, Anosmia, Cardiomyopathy, Limb...	OMIM:266500
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h...	OMIM:604213
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Cryptorchidism, Non-midline cleft lip, Ankyloblepharon, Cleft palate, Tooth agenesis	ORPHA:1074
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Deep philtrum, High palate, At...	OMIM:115150
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Mandibular prognathia, Hyperactivity, Impulsivity, Micrognathia, Aggressive behavior, Cryptorchid...	OMIM:604317
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Renal agenesis, Ectopic kidney, Micrognathia, Renal hypoplasia...	OMIM:212780
Kinsship Syndrome	Mandibular prognathia, Osteopenia, Micrognathia, Synophrys, Downturned corners of mouth, Short ph...	OMIM:619297
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Abnormality of the philtrum, Short stature, Ventri...	ORPHA:1770
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Abnormality of the ut...	ORPHA:857
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Synophrys, Low anterior hairline, Downturned co...	ORPHA:955
19P13.3 Microduplication Syndrome	Micrognathia, Prominent nose, Short philtrum, Abnormal facial shape, Long face, Hyperactivity, Pr...	ORPHA:447980
Zellweger Syndrome	Flat occiput, Micrognathia, High palate, Hepatomegaly, Multicystic kidney dysplasia, Hypospadias,...	ORPHA:912
Brunet-Wagner Neurodevelopmental Syndrome	Round face, Increased skull ossification, Optic atrophy, Wide nasal bridge, Low anterior hairline...	OMIM:619690
Imagawa-Matsumoto Syndrome	Mandibular prognathia, Round face, Wide nasal ridge, Cryptorchidism, Melanocytic nevus, Anteriorl...	OMIM:618786
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Inflexible adherence to routines, Aggressive behavior, Enuresis, Self-injurious ...	OMIM:613670
Chromosome 17P13.1 Deletion Syndrome	High, narrow palate, Synophrys, Low anterior hairline, Brachycephaly, Knee flexion contracture, H...	OMIM:613776
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Multiple joint contractures, Abnormal occipital bone morphology, Simplified gyral pattern, Knee f...	ORPHA:468631
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Micrognathia, Deep philtrum, Low anterior hairline, Brachycephaly, Downturned corners of mouth, C...	ORPHA:404440
Orofaciodigital Syndrome I	Dry hair, Lobulated tongue, High palate, Sparse hair, Agenesis of corpus callosum, Microretrognat...	OMIM:311200
2P15P16.1 Microdeletion Syndrome	Brachycephaly, Protruding ear, High palate, Multicystic kidney dysplasia, Facial palsy, Sparse ey...	ORPHA:261349
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Depressed nasal bridge, Recurrent fractures, Tracheomalacia, ...	ORPHA:140
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Dental crowding, Brachycephaly, High palate, Atrial septal defect, Ag...	OMIM:612582
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Abnormal eyelid morphology, Microdontia, Hypothyroidism, Agenesis of corpus ...	ORPHA:1812
Phakomatosis Pigmentokeratotica	Spina bifida, Rhabdomyosarcoma, Precocious puberty, Cryptorchidism, Renal transitional cell carci...	ORPHA:2874
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Noncompaction cardiomyopathy, Severe short stature, Proportionate short ...	ORPHA:3208
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy, Sensorineural hearing impairment, Polymicrogyria, Increased CSF lac...	OMIM:616974
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Narrow face, Aplasia/Hypoplasia of the tongue, Congenital diap...	ORPHA:958
Nicolaides-Baraitser Syndrome	High, narrow palate, Sparse hair, Thick nasal alae, Alopecia, Anteverted nares, Highly arched eye...	ORPHA:3051
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Long nose, High palate, Short philtrum, An...	OMIM:615866
Opitz Gbbb Syndrome	Bifid scrotum, Congenital diaphragmatic hernia, Micrognathia, High palate, Vesicoureteral reflux,...	ORPHA:2745
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Brachycephaly, Oligodontia, Shallow orbits, Depressed nasal brid...	ORPHA:1272
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Short stature, Cryptorchidism, Wide ...	OMIM:619595
Tetralogy Of Fallot	Abnormal nasal morphology, Cryptorchidism, Thin vermilion border, Dolichocephaly, Intrauterine gr...	ORPHA:3303
Pineocytoma	Hearing abnormality, Hydrocephalus, Increased CSF protein concentration, Abnormal eyelid morphology	ORPHA:251912
16Q24.3 Microdeletion Syndrome	Micrognathia, Protruding ear, High palate, Biparietal narrowing, Chronic otitis media, Long face,...	ORPHA:261250
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Coarse facial features, Hypospadias, Limb joint contracture, Short stature, Hyperconvex nail, Cry...	OMIM:300004
Chromosome 1Q41-Q42 Deletion Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Deep philtrum, Widely spaced teeth, ...	OMIM:612530
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Frontal bossing, Epicanthus, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Abnorma...	OMIM:618653
Dubowitz Syndrome	Narrow face, Abnormality of neutrophils, Micrognathia, Hypoplastic toenails, Rectal prolapse, Low...	ORPHA:235
49,Xxxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Small scrotum, Depressed nasal ridge, Brachycephaly, ...	ORPHA:96264
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Microp...	OMIM:200990
Williams Syndrome	Osteopenia, Narrow face, Protruding ear, Nephrocalcinosis, Microdontia, Hypogonadotropic hypogona...	ORPHA:904
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla...	OMIM:611556
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Oral ulcer, Leukopenia, High palate, Hypoplasia of the thymus, Oti...	OMIM:612541
Goldberg-Shprintzen Megacolon Syndrome	Bifid scrotum, Sparse scalp hair, Hypospadias, Aganglionic megacolon, Short stature, Sparse eyebr...	ORPHA:66629
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	ORPHA:280679
Lethal Congenital Contracture Syndrome 10	Torticollis, Stiff neck, Overriding aorta, Ventricular septal defect, Micrognathia, Cardiomegaly,...	OMIM:617022
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Long nose, Atrial septal defect, Abnormal facial shape, Micropenis, Thick upper lip vermilion, Pr...	ORPHA:363444
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Frontal bossing, Epicanthus, Abnormal pinna mo...	OMIM:614175
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Epicanthus, Cryptorchidism, Abnormal antihelix morphology, Chorioretinal coloboma, Hypoplasia of ...	ORPHA:2489
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Flat occiput, Brachycephaly, High palate, Atrial septal ...	ORPHA:505237
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Mandibular prognathia, Ptosis, Short stature, Synophrys, Thick lower lip vermilion, Anosmia, Wide...	OMIM:210745
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co...	ORPHA:79414
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Atrial septal defect, Short stature, Sensorineural hearing impairment, Submucous cleft hard palat...	OMIM:617660
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Retinal coloboma, Facial palsy, Macular coloboma	OMIM:107550
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Joint laxity, Short stature, Prominent nasal bridge, Micrognathia, Cryptorchidism, Synophrys, Oro...	ORPHA:502434
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Intellectual Developmental Disorder, Autosomal Dominant 52	Prominent nose, Bilateral cryptorchidism, Synophrys, Low anterior hairline, Pica, Downturned corn...	OMIM:617796
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Micropen...	OMIM:301040
Stromme Syndrome	Accessory spleen, Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Micrognathia, ...	OMIM:243605
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Type II lissencephaly, Hydrocep...	ORPHA:272
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Flexion contracture, Abnormality of the ear, Downturned corners of mouth, ...	ORPHA:391372
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Epicanthus, Telecanthus, Cryptorchidism, Wide nasal bridge, Protruding ear...	ORPHA:1778
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus, Trapezius muscle aplasia, Abnormality of the ear	OMIM:600257
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Telecanthus, Hypospadias, Hypoplasia of the maxilla, Crypto...	OMIM:601499
Arthrogryposis, Distal, Type 7	Ptosis, Short stature, Micrognathia, Trismus, Deep philtrum, Distal arthrogryposis, Dysphagia, Ar...	OMIM:158300
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Tented upper lip vermilion, Brachycephaly, High palate, Widely spaced teeth, Abnormal repetitive ...	OMIM:300260
Craniotelencephalic Dysplasia	Low-set, posteriorly rotated ears, Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Hydr...	ORPHA:1528
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum testosterone concentration, Cryptorchidism, Anosmia, Primary amenorrhea, Decrease...	OMIM:614897
Lateral Meningocele Syndrome	Narrow face, Dental crowding, Micrognathia, High, narrow palate, High palate, Conductive hearing ...	ORPHA:2789
Desmosterolosis	Micrognathia, Generalized osteosclerosis, Partial agenesis of the corpus callosum, Ambiguous geni...	OMIM:602398
8P Inverted Duplication/Deletion Syndrome	Micrognathia, High, narrow palate, Synophrys, Aplasia/Hypoplasia of the gallbladder, Abnormal fac...	ORPHA:96092
16P13.11 Microdeletion Syndrome	Holoprosencephaly, Compulsive behaviors, Atrial septal defect, Agenesis of corpus callosum, Exagg...	ORPHA:261236
Chromosome 5P13 Duplication Syndrome	Brachycephaly, Downturned corners of mouth, High palate, Short philtrum, Compulsive behaviors, Sp...	OMIM:613174
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Ankyloblepharon, Widely space...	OMIM:106260
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Vesicoureteral reflux, Micropenis, Agenesis of corpus callosum, Hepatomegaly, Hypospa...	OMIM:301056
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormality of the seventh cranial nerve, Upper limb muscle weakness, Abnormality of the urinary ...	ORPHA:90117
Chromosome 2Q37 Deletion Syndrome	Brachycephaly, Abnormal repetitive mannerisms, Hypothyroidism, Hyperactivity, Anteverted nares, D...	OMIM:600430
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Communicating hydrocephalus, Septo-optic dysplasia, Hooded eyelid, Anterio...	OMIM:619841
Stankiewicz-Isidor Syndrome	Ureteral duplication, Hyperactivity, Hypospadias, Truncus arteriosus, Facial asymmetry, Micrognat...	OMIM:617516
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Hypospadias, Joint hypermobility, Diastema, Agenesis o...	OMIM:619718
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Thin upper lip vermilion, Limited elbow extension and supination, Truncus arteriosu...	ORPHA:401935
Laurence-Moon Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Renal insufficiency, Short stature, Epica...	ORPHA:2377
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test...	ORPHA:363958
Fatty Acyl-Coa Reductase 1 Deficiency	Thin upper lip vermilion, Dandy-Walker malformation, Depressed nasal bridge, Short stature, Highl...	ORPHA:438178
Microphthalmia, Syndromic 12	Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Micrognathia,...	OMIM:615524
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Ventriculomegaly, Epicanthus, Depressed nasal bridge, Ventricular septal defect, Hy...	OMIM:602501
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Waardenburg Syndrome	Synophrys, Orofacial cleft, Abnormality of skin pigmentation, Premature graying of hair, Abnormal...	ORPHA:3440
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the panc...	ORPHA:2470
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Thin upper lip vermilion, Broad eyebrow, Tented upper lip vermilion, Highly arched eyebrow, Promi...	OMIM:619244
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Small scrotum, External genital hypoplasia, Xerostomia, Downturned corners of mouth, ...	ORPHA:398079
Opitz Gbbb Syndrome	Abnormal nasopharynx morphology, Rectourethral fistula, High palate, Vesicoureteral reflux, Micro...	OMIM:300000
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Short stature, Hydrocephalus, Coloboma, Hypogonadism,...	ORPHA:141333
Image Syndrome	Frontal bossing, Hypospadias, Depressed nasal bridge, Adrenal hypoplasia, Cryptorchidism, Hypogon...	ORPHA:85173
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Increased overbite, Attenti...	OMIM:618504
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Ch...	OMIM:101200
1Q44 Microdeletion Syndrome	Optic disc hypoplasia, Micrognathia, Synophrys, High palate, Biparietal narrowing, Vesicoureteral...	ORPHA:238769
Mucopolysaccharidosis, Type Ii	Intestinal pseudo-obstruction, Flexion contracture, Widely spaced teeth, Papilledema, Hepatomegal...	OMIM:309900
Tyshchenko Syndrome	Posteriorly rotated ears, Short stature, Supernumerary nipple, Ventricular septal defect, Thick h...	OMIM:615102
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Micrognathia, Coloboma, Congenital contracture, Retinal dysplasia, Pachy...	OMIM:236670
Cockayne Syndrome	Skeletal muscle atrophy, Dry hair, Urinary incontinence, Congenital contracture, Retinal arteriol...	ORPHA:191
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperextensibility of the finger joints, Narrow face, Dental crowding, Micrognathia, Hypoplasia o...	OMIM:309520
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia,...	OMIM:235510
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Low anterior hairline, Brachycephaly, Conductive hearing impairment, D...	ORPHA:794
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contracture, Calf muscle hypert...	ORPHA:206546
Joubert Syndrome 5	Occipital encephalocele, Aggressive behavior, Impaired renal concentrating ability, Stage 5 chron...	OMIM:610188
Riboflavin Transporter Deficiency	Optic disc pallor, Skeletal muscle atrophy, Ptosis, Iris hypopigmentation, Facial palsy, Aggressi...	ORPHA:97229
Thanatophoric Dysplasia	Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Abnormality of the kidney, Joint stiff...	ORPHA:2655
Tangier Disease	Hepatomegaly, Peripheral axonal neuropathy, Cicatricial ectropion, Splenomegaly, Facial diplegia,...	OMIM:205400
Sotos Syndrome	Mandibular prognathia, Narrow face, High, narrow palate, Partial agenesis of the corpus callosum,...	OMIM:117550
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Uplifted earlobe, Brachycephaly, Short philtrum, Micropenis, Self-mutilati...	ORPHA:364028
Yoon-Bellen Neurodevelopmental Syndrome	Bilateral ptosis, Scaphocephaly, Optic atrophy, Hypomimic face, High palate, Downslanted palpebra...	OMIM:619701
Trisomy 8Q	Low-set, posteriorly rotated ears, Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Jo...	ORPHA:1752
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614840
Pituitary Gigantism	Mandibular prognathia, Frontal bossing, Coarse facial features, Elevated circulating growth hormo...	ORPHA:99725
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Increased CSF lactate, Renal tub...	OMIM:614922
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Left ventricular hypertro...	OMIM:619048
Mosaic Trisomy 9	Hypoplasia of penis, Micrognathia, Asplenia, High palate, Abnormality of the uterus, Biparietal n...	ORPHA:99776
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hypoplasia of the maxilla, Fl...	OMIM:218000
Coloboma Of Macula And Skeletal Anomalies	Macular coloboma, Cleft palate, Contracture of the distal interphalangeal joint of the 5th finger	OMIM:216800
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, External genital hypoplasia, High, narrow palate, Epispadias, Hyperconvex ...	ORPHA:2658
3Mc Syndrome	Bilateral cryptorchidism, Orofacial cleft, Downturned corners of mouth, Large fleshy ears, Spina ...	ORPHA:293843
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Prominence of the premaxilla, Epicanthus, Short stature, Prominent nose, Pa...	OMIM:614886
Oculocerebrocutaneous Syndrome	Ptosis, Ventriculomegaly, Alopecia, Abnormal fingernail morphology, Congenital diaphragmatic hern...	ORPHA:1647
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Flat occiput, Micrognathia, High palate, Protein-losing enteropathy, Abnormality of the uterus, A...	ORPHA:1655
Williams-Beuren Syndrome	Osteopenia, Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Nephrocalcinosis, Early ...	OMIM:194050
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Frontal bossing, Hypoplasia of penis, Narrow nasal bridge, Short stature, ...	ORPHA:3082
Fetal Hydantoin Syndrome	Low-set, posteriorly rotated ears, Bifid scrotum, Ptosis, Epicanthus, Abnormal pinna morphology, ...	ORPHA:1912
Congenital Muscular Dystrophy With Intellectual Disability	Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl...	ORPHA:370968
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Frontal bossing, Round face, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Brachycephaly,...	OMIM:616789
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Skeletal muscle atrophy, Micrognathia, Epicanthus inversus, Flexion contracture, Brachycephaly, P...	OMIM:309590
Fraser Syndrome 2	Wide nose, Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Underdeveloped nasa...	OMIM:617666
3Mc Syndrome 2	Limited elbow movement, Partial abdominal muscle agenesis, Downturned corners of mouth, High pala...	OMIM:265050
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Underdeveloped superior crus of antihelix, Micrognathia, Microcytic anemia, Protruding ear, Abnor...	ORPHA:293967
Schaaf-Yang Syndrome	Mandibular prognathia, Frontal bossing, Coarse facial features, Abnormality of the philtrum, Shor...	OMIM:615547
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Joint hyperflexibility, Hypogonadism, Congenital muscular dystrophy, A...	ORPHA:1875
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Prominent nose, Synophrys, Short philtrum, Atrial septal defect, Patent f...	OMIM:618316
Zimmermann-Laband Syndrome	Micrognathia, Large fleshy ears, High palate, Absent fingernail, Bifid uvula, Hepatomegaly, Abnor...	ORPHA:3473
Filippi Syndrome	Frontal bossing, Wide nose, Severe short stature, Short stature, Prominent nasal bridge, Supernum...	ORPHA:3255
Waardenburg Syndrome Type 1	Mandibular prognathia, Tented upper lip vermilion, Synophrys, White hair, Premature graying of ha...	ORPHA:894
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Ptosis, Epicanthus, Anteverted nares, Depressed nasal bridge, Short stature, Deep philtrum, Senso...	ORPHA:1825
Whistling Face Syndrome, Recessive Form	Epicanthus, Telecanthus, Shoulder flexion contracture, Prominent nasal bridge, Micrognathia, Unde...	OMIM:277720
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Anteriorly placed anus, Downturned corners of ...	OMIM:239300
46,Xy Sex Reversal 5	Sex reversal, Elevated circulating follicle stimulating hormone level	OMIM:613080
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy, External genital hypoplasia, Renal hypoplasia	OMIM:600151
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Ectropion of lower ey...	OMIM:615873
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Ptosis, Hypospadias, Depressed nasal bridge,...	OMIM:619736
Teebi Hypertelorism Syndrome 1	Dental crowding, Micrognathia, Coronal craniosynostosis, Atrial septal defect, Anteverted nares, ...	OMIM:145420
Warburg Micro Syndrome 3	Ventriculomegaly, Small scrotum, Decreased muscle mass, Micrognathia, Postnatal growth retardatio...	OMIM:614222
Flat Face-Microstomia-Ear Anomaly Syndrome	Small scrotum, Abnormal oral mucosa morphology, Micrognathia, Long nose, High, narrow palate, Dow...	ORPHA:1968
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat...	ORPHA:95699
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Thin upper lip vermilion, Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Sh...	OMIM:614376
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Epicanthus, Abnormality of the philtrum, Recurrent fractures, Camptodactyly ...	ORPHA:3409
Kabuki Syndrome 1	Premature thelarche, Micrognathia, Protruding ear, High palate, Atrial septal defect, Micropenis,...	OMIM:147920
Pallister-Hall-Like Syndrome	Occipital encephalocele, Median cleft lip, Depressed nasal bridge, Short stature, Micrognathia, H...	OMIM:241800
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Dry hair, Mild postnatal growth retardation, Flexion contracture, Premat...	ORPHA:90324
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Decreased testicular ...	OMIM:614858
H Syndrome	Microcytic anemia, Micropenis, Alopecia, Short stature, Abnormality of the kidney, Cleft upper li...	ORPHA:168569
47,Xyy Syndrome	Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ...	ORPHA:8
Oculopharyngeal Muscular Dystrophy 1	Facial palsy, Progressive ptosis, Dysphagia, Limb muscle weakness, Ptosis	OMIM:164300
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Wide nose, Ptosis, Short stature, Ventricular septal defect, Hypoplasia of ...	OMIM:614261
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Frontal bossing, Hypospadias, Dysmenorrhea, Micrognathia, Postnatal growth retarda...	ORPHA:397590
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Adrenal hypoplasia, Micrognathia, Orofacial cleft, Absent nares, Holoprosenc...	ORPHA:2166
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Coarse facial features, Ventricular septal defect, Dextrocardia, Crypto...	OMIM:618067
Femoral-Facial Syndrome	Thin upper lip vermilion, Short stature, Maternal diabetes, Renal hypoplasia/aplasia, Micrognathi...	ORPHA:1988
Freeman-Sheldon Syndrome	Ptosis, Short stature, Camptodactyly of finger, Abnormality of the dentition, Joint stiffness, Cr...	ORPHA:2053
Terminal Osseous Dysplasia	Epicanthus, Multiple joint contractures, Telecanthus, Camptodactyly of finger, Accessory oral fre...	OMIM:300244
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Anosmia, Osteoporosis, Hypogonadism, Delayed puberty	OMIM:615270
Edinburgh Malformation Syndrome	Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Joint stiffness, Brushfield spo...	ORPHA:1895
Myasthenic Syndrome, Congenital, 8	Weakness of facial musculature, High palate, Ptosis	OMIM:615120
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Prader-Willi Syndrome Due To Translocation	Flat occiput, Decreased response to growth hormone stimulation test, External genital hypoplasia,...	ORPHA:177907
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Skeletal muscle atrophy, Ptosis, Epicanthus, Depressed nasal brid...	OMIM:162100
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Deep philtrum, Synophrys, Protruding ear, Short philtrum, Joint contracture of the 5th finger, Co...	OMIM:620098
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Increased urine alpha-ketoglutarate concentration, Vertigo, Left ventricular hypertrophy, Increas...	OMIM:614458
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Cryptorchidism, Patent ductus...	OMIM:619797
Syndromic Diarrhea	Villous atrophy, Brittle hair, Bicuspid aortic valve, Colitis, Hypoplasia of the thymus, Atrial s...	ORPHA:84064
Branchial Arch Syndrome, X-Linked	Short stature, High, narrow palate, Cryptorchidism, Protruding ear, High palate, Low-set ears, Pu...	OMIM:301950
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Rod-cone dystrophy, Chorioret...	OMIM:612109
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Skeletal muscle atrophy, Flexion contracture, Gingivitis, Abnormality of skin pigment...	ORPHA:75496
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Absent lacrimal punctum, Hypoplastic lacrimal duct, High, narrow palate, Cryptorchidism, Bulbous ...	OMIM:273390
Noonan Syndrome 4	Ureteral duplication, Atrial septal defect, Thickened helices, Depressed nasal bridge, Short stat...	OMIM:610733
Congenital Myopathy 17	Mandibular prognathia, Telecanthus, Tented upper lip vermilion, Triangular face, Dental malocclus...	OMIM:618975
Marshall-Smith Syndrome	Irregular dentition, Brittle hair, Large sternal ossification centers, Bilateral cryptorchidism, ...	OMIM:602535
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone...	OMIM:616030
Birk-Aharoni Syndrome	Duplicated collecting system, Macrocytic anemia, Micrognathia, Cryptorchidism, Muscular ventricul...	OMIM:620071
Fetal Akinesia Deformation Sequence 2	Tented upper lip vermilion, Micrognathia, Cryptorchidism, Flexion contracture, Wide nasal bridge,...	OMIM:618388
Intellectual Developmental Disorder, X-Linked 103	Coarse facial features, Anteverted nares, Bilateral cryptorchidism, Wide mouth, Lateral ventricle...	OMIM:300982
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis...	ORPHA:432
Orofaciodigital Syndrome V	Unilateral ptosis, Lobulated tongue, High palate, Agenesis of corpus callosum, Bifid uvula, Hamar...	OMIM:174300
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Narrow nasal bridge, Telecanthus, Depressed nasal bridge, Ventricular septal defect, Short palpeb...	OMIM:620073
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Low-set, posteriorly rotated ears, Mandibular prognathia, Epicanthus, Short statur...	ORPHA:1908
Potocki-Lupski Syndrome	Mandibular prognathia, Atrial septal defect, Hyperactivity, Dental crowding, Short stature, Micro...	OMIM:610883
Scarf Syndrome	Low-set, posteriorly rotated ears, Bifid scrotum, Coarse facial features, Ptosis, Epicanthus, Dia...	ORPHA:3134
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Downturn...	ORPHA:398069
Auriculocondylar Syndrome 2A	Overfolding of the superior helices, Ptosis, Round face, Dental crowding, Posteriorly rotated ear...	OMIM:614669
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Micrognathia, Prominent nose, High palate, Pachygyria,...	OMIM:210600
Alazami Syndrome	Wide nose, Short palpebral fissure, Abnormal eating behavior, Postnatal growth retardation, Spars...	ORPHA:319671
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Low anterior hairline, Glandular hypospadias, High palate, Thickened helices, Hypospadias, Low-se...	OMIM:604314
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, B...	OMIM:213980
Frontonasal Dysplasia 2	Aplasia of the nasal bone, Cleft ala nasi, Conical tooth, Bilateral cryptorchidism, Depressed nas...	OMIM:613451
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Short stature, Dolichocephaly, Abnormal repetitive mannerisms, Long face	OMIM:300271
Microphthalmia With Linear Skin Defects Syndrome	Chorioretinal dysplasia, Congenital diaphragmatic hernia, Micrognathia, Abnormal eyelid morpholog...	ORPHA:2556
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Micrognathia, Renal cyst, Abnormal facial shape, Broad columella, Retinal degeneration, Absent ey...	ORPHA:166035
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Frontal encephalocele,...	ORPHA:261102
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	OMIM:300845
Townes-Brocks Syndrome 1	Bifid scrotum, Holoprosencephaly, Chorioretinal coloboma, Vesicoureteral reflux, Atrial septal de...	OMIM:107480
Intellectual Developmental Disorder, X-Linked 106	Thin upper lip vermilion, Hypospadias, Bicuspid aortic valve, Cryptorchidism, Synophrys, Thick ve...	OMIM:300997
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Severe short stature, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydr...	ORPHA:1865
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Polymicrogyria, Ventriculomegaly	OMIM:615938
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, Microdontia, Sparse hair, Bifid uvula, Hypospadias, Dep...	OMIM:129400
Intellectual Developmental Disorder, Autosomal Recessive 41	Mandibular prognathia, Frontal bossing, Hepatomegaly, Broad nasal tip, Splenomegaly, Scaphocephal...	OMIM:615637
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Low-set, posteriorly rotated ears, Frontal bossing, Epicanthus, Hypospadias, Short stature, Micro...	ORPHA:98791
Peroxisome Biogenesis Disorder 1A (Zellweger)	Flat occiput, Adrenal hypoplasia, Micrognathia, High, narrow palate, Subependymal cysts, Aminoaci...	OMIM:214100
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Dental crowding, Knee flexion contracture, High palate, Spina bifida occul...	OMIM:193700
Crouzon Syndrome	Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of...	OMIM:123500
Dandy-Walker Malformation With Postaxial Polydactyly	Microretrognathia, Frontal bossing, Dilated fourth ventricle, Depressed nasal bridge, Patent duct...	OMIM:220220
Developmental And Epileptic Encephalopathy 109	Left ventricular hypertrophy, Intrauterine growth retardation, Hyperactivity	OMIM:620145
Joubert Syndrome With Renal Defect	Encephalocele, Low-set, posteriorly rotated ears, Renal insufficiency, Ptosis, Aganglionic megaco...	ORPHA:220497
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Ptosis, Small scrotum, Proteinuria, Blepharophimosis, Postnatal growth reta...	ORPHA:2728
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Synophrys, Depressed nasal ridge, Brachycephaly, Orofacial...	OMIM:607872
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Basilar Impression, Primary	Limb muscle weakness, Horner syndrome, Abnormal cervical myelogram, Platybasia, Craniofacial asym...	OMIM:109500
Mulibrey Nanism	Dental crowding, Cardiomegaly, Absent frontal sinuses, Pericardial constriction, Iris coloboma, H...	OMIM:253250
20Q11.2 Microduplication Syndrome	Bifid scrotum, Tented upper lip vermilion, Brachycephaly, Abnormal nasal bridge morphology, Micro...	ORPHA:363659
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Short stat...	OMIM:616113
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Round face, Diabetes mellitus, Hypospadias, Anteverted nares, Depressed na...	OMIM:614613
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Short stature, Camptodactyly of finger, Prominent nasal bridge, Aggressive behavior, Hypoplasia o...	ORPHA:85279
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Unilateral cryptorchidism, Optic nerve hypoplasia, Abnormal pulmonary v...	ORPHA:137634
Hyperostosis Cranialis Interna	Abnormal vestibular function, Facial palsy, Sensorineural hearing impairment, Optic atrophy, Anos...	OMIM:144755
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Epicanthus, Sparse eyelashes, Bilateral clef...	OMIM:616788
Trisomy 18	Narrow face, Congenital diaphragmatic hernia, Pointed helix, Holoprosencephaly, Atrial septal def...	ORPHA:3380
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal eyelid morphology, Low ant...	ORPHA:193
Microphthalmia, Syndromic 6	Small scrotum, Uplifted earlobe, Micrognathia, Adrenal hypoplasia, Brachycephaly, Protruding ear,...	OMIM:607932
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Polymicrogyria, Ventriculomegaly	OMIM:615937
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Protruding...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Protruding...	ORPHA:352665
Bardet-Biedl Syndrome 4	Abnormality of the kidney, External genital hypoplasia, Abnormality of the dentition, Cryptorchid...	OMIM:615982
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Bilateral cryptorchidism, Hypoplasia of the maxilla, Joi...	OMIM:305400
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Brachycephaly, High palate, Choriore...	OMIM:234100
46,Xx Sex Reversal 3	Sex reversal	OMIM:300833
46,Xy Sex Reversal 2	Sex reversal	OMIM:300018
Ohdo Syndrome, X-Linked	Small scrotum, Micrognathia, Prominent nose, High palate, Widely spaced teeth, Microdontia, Micro...	OMIM:300895
X-Linked Intellectual Disability, Cilliers Type	Decreased serum testosterone concentration, Hypospadias, Hypergonadotropic hypogonadism, Prominen...	ORPHA:163971
Developmental And Epileptic Encephalopathy 64	Micrognathia, Low anterior hairline, Widely spaced teeth, Abnormal repetitive mannerisms, Long ph...	OMIM:618004
Otopalatodigital Syndrome Type 2	Micrognathia, Glossoptosis, Oligodontia, Abnormal vertebral segmentation and fusion, Synostosis o...	ORPHA:90652
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Czeizel-Losonci Syndrome	Low-set, posteriorly rotated ears, Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifid...	ORPHA:2437
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Diabetes mellitus, Ragged-red muscle fibers, Myopathy, Bilateral sensorineural hearing impairment...	OMIM:540000
White-Sutton Syndrome	Mandibular prognathia, Congenital diaphragmatic hernia, Micrognathia, Brachycephaly, Downturned c...	OMIM:616364
Proteus Syndrome	Ptosis, Depressed nasal bridge, Facial hyperostosis, Splenomegaly, Limbal dermoid, Mandibular hyp...	OMIM:176920
Nablus Mask-Like Facial Syndrome	Hypoplasia of the maxilla, Low anterior hairline, High palate, Sparse hair, Micropenis, Small ear...	OMIM:608156
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Narrow palpebral fissure, Low-set ears, Long philtrum, Macr...	OMIM:615145
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Brachycephaly, El...	ORPHA:439822
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Osteopenia, Brachycephaly, Sparse hair, Abnormal repetitive mannerisms, Se...	OMIM:212066
Polyvalvular Heart Disease Syndrome	Ptosis, Abnormal pinna morphology, Dental crowding, Short stature, Micrognathia, Prominent nose, ...	ORPHA:228410
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
4Q21 Microdeletion Syndrome	Frontal bossing, Ptosis, Depressed nasal bridge, Abnormality of the dentition, Abnormal repetitiv...	ORPHA:238750
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Deep philtrum, Coarse hair, High palate, Widely spaced teeth, Thickened helices, Atrial septal de...	OMIM:617506
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Micrognathia, Multiple prenatal fractures, Cardiomegaly, Flexion contracture, Brachyc...	OMIM:616897
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Telecanthus, Depressed nasal bridge, Ventricular septal defect, Abnormal nasal morphology, Hydroc...	ORPHA:83473
Frontoocular Syndrome	Atrial septal defect, Epicanthus, Posteriorly rotated ears, Prominent nasal bridge, Micrognathia,...	OMIM:605321
Functioning Gonadotropic Adenoma	Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad...	ORPHA:91348
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Mandibular prognathia, Thin upper lip vermilion, Frontal bossing, Ptosis, Short stature, Epicanth...	OMIM:619989
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Rhizo-meso-acromelic limb shortening, Thick upper lip vermilion, Limited pronation/supination of ...	ORPHA:163654
Mucopolysaccharidosis Type 3	Adenoiditis, Cardiomegaly, Synophrys, Flexion contracture, Reduced bone mineral density, Coarse h...	ORPHA:581
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Narrow face, Tented upper lip vermilion, Small scrotum, Internally nucle...	ORPHA:98905
1Q21.1 Microdeletion Syndrome	Frontal bossing, Epicanthus, Short stature, Cryptorchidism, Patent ductus arteriosus, Sensorineur...	ORPHA:250989
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Abnormal tongue...	ORPHA:531151
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Short stature, Craniosynostosi...	ORPHA:314575
Kury-Isidor Syndrome	Frontal bossing, Coarse facial features, Tented upper lip vermilion, Anteverted nares, Ventricula...	OMIM:619762
Neu-Laxova Syndrome	Osteopenia, Skeletal muscle atrophy, External genital hypoplasia, Micrognathia, Abnormal eyelid m...	ORPHA:2671
Huntington Disease	Oral-pharyngeal dysphagia, Aggressive behavior, Abnormality of the sense of smell, Addictive alco...	ORPHA:399
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
X-Linked Intellectual Disability, Van Esch Type	Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Short stature, Crypto...	ORPHA:163976
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Bicuspid aortic valve, High palate, Atrial septal defect, Abnorm...	ORPHA:457279
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Micrognathia, High palate, Biparietal narrowing, Atrioventricula...	ORPHA:251071
Chromosome 3Q29 Deletion Syndrome	Thin upper lip vermilion, Narrow face, Hyperactivity, Posteriorly rotated ears, Prominent nasal b...	OMIM:609425
Distal Duplication 5Q	Epicanthus, Hypospadias, Prominent nasal bridge, Craniosynostosis, Micrognathia, Carious teeth, N...	ORPHA:96097
Chromosome 14Q11-Q22 Deletion Syndrome	Lateral ventricular asymmetry, Anterior pituitary hypoplasia, Micrognathia, Bilateral cryptorchid...	OMIM:613457
2Q31.1 Microdeletion Syndrome	Narrow face, Micrognathia, Hypoplastic toenails, Deep philtrum, Synophrys, Low anterior hairline,...	ORPHA:251014
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Frontal bossing, Posteriorly rotated ears, Sensorineural hearing imp...	OMIM:615219
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Septo-optic dysplasia, Abnormally ossified vertebrae, Aplasia/Hypop...	ORPHA:3301
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Facial palsy, Abnormality of the nose,...	ORPHA:3152
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypospadias, Decreased response to growth hormone stimulation test, Craniosynostosis,...	OMIM:614732
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus, Macrotia, Cardiomegaly	OMIM:300886
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Synophrys, Flexion contracture, Downturned corners of mouth, Short ph...	ORPHA:487796
Distal Deletion 3P	Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Atrioventricular canal def...	ORPHA:1620
Combined Oxidative Phosphorylation Deficiency 47	Hepatomegaly, Round face, Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairm...	OMIM:618958
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:612158
Distal Duplication 17Q	Micrognathia, Protruding ear, High palate, Short philtrum, Vesicoureteral reflux, Renal duplicati...	ORPHA:3379
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Curly hair, Epicanthus, Depressed nasal bridge, Short stature, ...	OMIM:613224
Thanatophoric Dysplasia Type 2	Encephalocele, Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Abnormality of the kidn...	ORPHA:93274
Coffin-Siris Syndrome 5	Thin upper lip vermilion, Coarse facial features, Wide nose, Depressed nasal bridge, Short statur...	OMIM:616938
Myhre Syndrome	Mandibular prognathia, External genital hypoplasia, Hypoplasia of the maxilla, Epispadias, Bifid ...	ORPHA:2588
Oligomeganephronia	Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Micrognathia, Congen...	ORPHA:2260
Proximal Xq28 Duplication Syndrome	Epicanthus, Tented upper lip vermilion, Hypospadias, Short stature, Joint stiffness, Cryptorchidi...	ORPHA:1762
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Ileal atresia, Micrognathia, Epicanthus inversus, Protruding ear, Holo...	OMIM:618820
Peters Plus Syndrome	Ureteral duplication, Micrognathia, Bicuspid pulmonary valve, Brachycephaly, Clitoral hypoplasia,...	ORPHA:709
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Micropenis, Calvarial ...	OMIM:616331
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased motor nerve conduction velocity, Hand muscle atrophy, Decreased distal sensory nerve ac...	OMIM:607684
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Micrognathia, Flexion contracture, Glossoptosis, High palate, Anteverted...	OMIM:254940
Schwartz-Jampel Syndrome, Type 1	Skeletal muscle atrophy, Micrognathia, Quadriceps muscle weakness, Deep philtrum, High palate, Wr...	OMIM:255800
Meckel Syndrome, Type 1	Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Micrognathia, Asplenia,...	OMIM:249000
Acrofrontofacionasal Dysostosis	Bifid scrotum, Hypospadias, Camptodactyly of finger, Short stature, Broad nasal tip, Brushfield s...	ORPHA:1784
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	ORPHA:314585
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Submucous cleft hard palate, Si...	ORPHA:2250
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Radial club hand, Hydrocephalus, Renal hypoplasia, Abnormal heart morphology...	OMIM:276950
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner...	ORPHA:1507
11Q22.2Q22.3 Microdeletion Syndrome	Thin upper lip vermilion, Thick eyebrow, Epicanthus, Posteriorly rotated ears, Depressed nasal br...	ORPHA:444002
Oculomotor-Levator Synkinesis	Ptosis, Eyelid retraction, Abnormal eyelid morphology	OMIM:151610
Coffin-Siris Syndrome 12	Micrognathia, Synophrys, Low anterior hairline, Protruding ear, High palate, Hypothyroidism, Pate...	OMIM:619325
Chopra-Amiel-Gordon Syndrome	Thin upper lip vermilion, Short stature, Joint hypermobility, Unilateral renal agenesis, Postnata...	OMIM:619504
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Epicanthus, Abnormality o...	ORPHA:1390
Temple-Baraitser Syndrome	Tented upper lip vermilion, Hypoplastic thumbnail, Low anterior hairline, High palate, High anter...	ORPHA:420561
Abruzzo-Erickson Syndrome	Hypospadias, Short stature, Cleft palate, Protruding ear, Coloboma, Radioulnar synostosis, Macrot...	OMIM:302905
Non-Distal Duplication 13Q	Abnormal fingernail morphology, Abnormality of the dentition, Micrognathia, Cryptorchidism, Hypop...	ORPHA:1702
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, Brachycephaly, High palate, Short philtrum, Shallo...	OMIM:619127
Noonan Syndrome 14	High, narrow palate, Sparse hair, Scapular winging, Short stature, Sparse eyebrow, Cryptorchidism...	OMIM:619745
Xq12-Q13.3 Duplication Syndrome	Optic disc pallor, Decreased serum insulin-like growth factor 1, Epicanthus, Depressed nasal brid...	ORPHA:314389
Joubert Syndrome 22	Renal hypoplasia, Coloboma, Retinal dysplasia, Intrauterine growth retardation, Abnormal facial s...	OMIM:615665
Digeorge Syndrome	Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palat...	OMIM:188400
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Flexion contracture, Brachycephaly, Choanal stenosis, Atrial septal defect, Depressed nasal bridg...	OMIM:207410
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Broad skull, Short philtrum, Atrial septal defect, Micro...	ORPHA:163979
Myofibrillar Myopathy 10	Mandibular prognathia, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contrac...	OMIM:619040
Snijders Blok-Campeau Syndrome	Joint laxity, Frontal bossing, Epicanthus, Prominent nose, Wide nasal bridge, Taurodontia, High p...	OMIM:618205
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy...	OMIM:601493
Raine Syndrome	Mandibular prognathia, Micrognathia, Brachycephaly, Protruding ear, High palate, Choanal stenosis...	OMIM:259775
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Small scrotum, Posteriorly rotated ears, Anteverted nares, Depressed nasal brid...	OMIM:617822
Intellectual Developmental Disorder, X-Linked 101	Unilateral ptosis, Hyperactivity, Optic atrophy, Short philtrum, Macrotia, Long face	OMIM:300928
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Micrognathia, Renal cyst, Coloboma, High palate, Vesicoureteral reflux, Patent foramen ovale, Hyp...	OMIM:616975
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Long face, Hyperactivity, Anteverted nares, Cleft upper lip, Precocious puberty, Aggressive behav...	OMIM:300958
Shashi-Pena Syndrome	Synophrys, Atrial septal defect, Long face, Highly arched eyebrow, Patent ductus arteriosus, Oste...	OMIM:617190
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Midnasal stenosis, Decreased response to growth hormone stimulat...	OMIM:147250
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral ptosis, Short stature, Bicuspid aortic valve, Simple ear, Hirsutism, Horseshoe kidney,...	OMIM:619318
Cousin Syndrome	Micrognathia, Ambiguous genitalia, female, Low anterior hairline, Ambiguous genitalia, male, Wris...	OMIM:260660
Developmental And Epileptic Encephalopathy 70	Cryptorchidism, Flexion contracture, Low-set ears, Narrow mouth, Ventriculomegaly	OMIM:618298
Cardiomyopathy, Familial Hypertrophic, 25	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:607487
Omodysplasia 2	Tented upper lip vermilion, Micrognathia, Clitoral hypoplasia, Limited elbow flexion, Micropenis,...	OMIM:164745
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Epicanthus, Hypospadias, Depressed nasal bridge, Cryptorchidism, Low-set ears, Conductive hearing...	OMIM:616910
Spinocerebellar Ataxia, Autosomal Recessive 31	Ptosis, Optic atrophy, Gingival overgrowth, Dysphagia, Growth delay, High palate, Bilateral senso...	OMIM:619422
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme...	OMIM:611584
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Flexion contracture, Depressed nasal ridge, Abno...	ORPHA:847
Roifman Syndrome	Narrow nasal bridge, Thin upper lip vermilion, Hip contracture, Noncompaction cardiomyopathy, Hyp...	ORPHA:353298
Holoprosencephaly 7	Flat occiput, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Synophrys, Hypop...	OMIM:610828
Acrofacial Dysostosis, Catania Type	Hypospadias, Short stature, Carious teeth, Cryptorchidism, Widow's peak, Intrauterine growth reta...	OMIM:101805
1Q41Q42 Microdeletion Syndrome	Frontal bossing, Coarse facial features, Hypergonadotropic hypogonadism, Depressed nasal bridge, ...	ORPHA:250999
Adams-Oliver Syndrome 2	Alopecia, Depressed nasal bridge, Micrognathia, Bulbous nose, Hydrocephalus, Optic atrophy, Low a...	OMIM:614219
2p15-16.1 microdeletion syndrome	Telecanthus, Optic disc hypoplasia, Camptodactyly of finger, Downslanted palpebral fissures, Hydr...	DECIPHER:70
Rubinstein-Taybi Syndrome 1	Dental crowding, Premature thelarche, Micrognathia, Bilateral cryptorchidism, High, narrow palate...	OMIM:180849
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ...	OMIM:610829
Neurooculocardiogenitourinary Syndrome	Epicanthus, Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Bilateral cryptorchi...	OMIM:618652
Chromosome 8Q21.11 Deletion Syndrome	Micrognathia, Protruding ear, Downturned corners of mouth, High palate, Short philtrum, Micropeni...	OMIM:614230
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Aplasia/Hypoplasia involving the nose, Cy...	ORPHA:990
Facial Paresis, Hereditary Congenital, 3	Unilateral ptosis, Epicanthus, Tented upper lip vermilion, Posteriorly rotated ears, Facial palsy...	OMIM:614744
Tatton-Brown-Rahman Syndrome	Mandibular prognathia, Round face, Coarse facial features, Ventriculomegaly, Thick eyebrow, Propo...	ORPHA:404443
Treacher Collins Syndrome 1	Sparse lower eyelashes, Micrognathia, Conductive hearing impairment, Cleft soft palate, Cryptorch...	OMIM:154500
Vitamin K Antagonist Embryofetopathy	Anteverted nares, Depressed nasal bridge, Choanal atresia, Myelomeningocele, Hydrocephalus, Optic...	ORPHA:1914
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Martsolf Syndrome 1	Enlarged sylvian cistern, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Brachyc...	OMIM:212720
Scarf Syndrome	Bifid scrotum, Low anterior hairline, Sparse hair, Micropenis, Cryptorchidism, Wide nasal bridge,...	OMIM:312830
Cardiofaciocutaneous Syndrome 2	Curly hair, Peripheral axonal neuropathy, Coarse facial features, Posteriorly rotated ears, Antev...	OMIM:615278
Renal Hypoplasia, Bilateral	Proteinuria, Short stature, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst,...	ORPHA:97362
Noonan Syndrome 11	Ptosis, Posteriorly rotated ears, Depressed nasal bridge, Short stature, Bulbous nose, Thick verm...	OMIM:618499
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Flat occiput, Synophrys, Brachycephaly, Conotruncal defect, Downturned corne...	ORPHA:96147
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micrognathia, High, narrow palate, Abnormality of the gingiva, Epispadias, D...	ORPHA:3107
Chops Syndrome	High, narrow palate, Synophrys, Downturned corners of mouth, Coarse hair, Vesicoureteral reflux, ...	OMIM:616368
Hartsfield Syndrome	Encephalocele, Low-set, posteriorly rotated ears, Telecanthus, Depressed nasal bridge, Craniosyno...	ORPHA:2117
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Retinal detachment, Optic nerve hypoplasia, Hearing impairment, Micrognath...	OMIM:620157
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Cardiomyopathy, Myopathy...	ORPHA:86812
Kleine-Levin Syndrome	Parageusia, Abnormal eating behavior, Repetitive compulsive behavior, Hypersexuality, Sweet cravi...	ORPHA:33543
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Short philtrum, Long face, Microretrognathia, Wide nasal bridge, Microtia,...	OMIM:613603
Multiple Benign Circumferential Skin Creases On Limbs	Low-set, posteriorly rotated ears, Epicanthus, Small scrotum, Hypospadias, Short stature, Microgn...	ORPHA:2505
Dentici-Novelli Neurodevelopmental Syndrome	Thin upper lip vermilion, Prominent nasal bridge, Precocious puberty, Simplified gyral pattern, W...	OMIM:619877
Congenital Toxoplasmosis	Hepatomegaly, Ventriculomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Hydrocephalus,...	ORPHA:858
Branchio-Oculo-Facial Syndrome	Deep philtrum, Orofacial cleft, Premature graying of hair, Coloboma, High palate, Conductive hear...	ORPHA:1297
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:618841
Tetrasomy 9P	Myositis, Glue ear, Dental crowding, Micrognathia, Downturned corners of mouth, Inappropriate beh...	ORPHA:3310
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st...	ORPHA:177904
Buratti-Harel Syndrome	Epicanthus, Posteriorly rotated ears, Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, ...	OMIM:619314
Ogden Syndrome	Microretrognathia, Frontal bossing, Everted upper lip vermilion, Coarse facial features, Torticol...	ORPHA:276432
O'Donnell-Luria-Rodan Syndrome	Aggressive behavior, Cryptorchidism, Self-injurious behavior, Skin-picking, Dolichocephaly, Abnor...	OMIM:618512
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, High palate, Shallow orbits, Vesicoureteral reflux, Bif...	OMIM:616580
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e...	OMIM:300534
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Prominent nasal bridge, Cryptorchidism, Flexion contracture, Abnormality of the palpebral fissure...	ORPHA:178148
Recombinant 8 Syndrome	Small scrotum, Micrognathia, Downturned corners of mouth, Atrial septal defect, Chronic otitis me...	ORPHA:96167
Intellectual Developmental Disorder, Autosomal Dominant 51	Epicanthus, Unilateral cryptorchidism, Aggressive behavior, Cryptorchidism, Wide nasal bridge, Fi...	OMIM:617788
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short stature, Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Low ant...	ORPHA:3201
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Ventricular septal defect, Esophageal atresia, Patent ductus ar...	ORPHA:77298
Costello Syndrome	Hypoplastic toenails, Low-set, posteriorly rotated ears, Large face, Deep-set nails, Depressed na...	ORPHA:3071
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Flat occiput, Micrognathia, High palate, Protein-losing enteropathy, Micropenis, Hepatomegaly, Th...	OMIM:235255
Toriello-Carey Syndrome	Micrognathia, Partial agenesis of the corpus callosum, Anteriorly placed anus, Anotia, High palat...	ORPHA:3338
Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease	Unilateral ptosis, Anterior creases of earlobe, Low-set ears, Long philtrum, Unilateral narrow pa...	OMIM:182875
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Adrenal hypoplasia, Micrognathia, Morgagni diaphragmatic hernia, Rectal prolapse, Hyp...	OMIM:613177
Chromosome 18P Deletion Syndrome	Ptosis, Round face, Epicanthus, Posteriorly rotated ears, Anteverted nares, Short stature, Microg...	OMIM:146390
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Hypergonadotropic hypogonadism, Renal agenesis, Aplastic anemia, Ventricular se...	OMIM:300514
Jacobsen Syndrome	Eyelid coloboma, Pachygyria, Agenesis of corpus callosum, Broad columella, Iris coloboma, Abnorma...	ORPHA:2308
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Frontal polymicrogyria, Epicanthus, Anteverted nares, Retinal d...	OMIM:608629
Paget Disease Of Bone 6	Nephrocalcinosis, Osteoarthritis, Left ventricular hypertrophy, Recurrent fractures	OMIM:616833
Joubert Syndrome With Oculorenal Defect	Encephalocele, Low-set, posteriorly rotated ears, Renal insufficiency, Ptosis, Aganglionic megaco...	ORPHA:2318
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cleft	ORPHA:3434
Zechi-Ceide Syndrome	Mandibular prognathia, Downturned corners of mouth, Oligodontia, Short philtrum, Atrial septal de...	ORPHA:217017
48,Xxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Small scrotum, Depressed nasal ridge, Brachycephaly, ...	ORPHA:96263
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Wide nose, Anteverted nares, Depressed nasal bridge, Maturity-onset diabetes of the young, Microg...	ORPHA:96184
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Myasthenic Syndrome, Congenital, 15	Multiple joint contractures, Ptosis	OMIM:616227
Axial Mesodermal Dysplasia Spectrum	Short stature, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Micrognathia, Abnormali...	ORPHA:1834
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Micrognathia, Hypoplasia of the maxilla, High palate, Shallow orbits, Conductive hear...	OMIM:182212
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Mandibular prognathia, Thin upper lip vermilion, Frontal bossing, Small scrotum, Hyperactivity, P...	OMIM:300486
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Retinal coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:2921
Microphthalmia, Isolated 8	Retinal detachment, Entropion, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal coloboma...	OMIM:615113
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Facial palsy, Micrognathia, Weakness of facial musculature, Type 2 muscle fiber atrophy, High pal...	OMIM:608930
Refsum Disease	Skeletal muscle atrophy, Renal insufficiency, Abnormality of retinal pigmentation, Splenomegaly, ...	ORPHA:773
Hurler Syndrome	Flexion contracture, Endocardial fibroelastosis, Microdontia, Retinal degeneration, Hepatomegaly,...	OMIM:607014
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Atrial septal defect, Hepatomegaly, Patent ductus arteriosus...	OMIM:614576
3Mc Syndrome 3	Bifid scrotum, Ptosis, Abnormal pinna morphology, Short stature, Diastasis recti, Cleft upper lip...	OMIM:248340
Wagr Syndrome	Short stature, Micrognathia, Cryptorchidism, Hearing abnormality, Everted lower lip vermilion, Am...	ORPHA:893
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic a...	ORPHA:93262
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Uplifted earlobe, High palate, Short philtrum, Atrial septal defect, ...	OMIM:616449
Proteus-Like Syndrome	Mandibular prognathia, Communicating hydrocephalus, Thymus hyperplasia, Retinal detachment, Antev...	ORPHA:2969
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Frontal bossing, Ventriculomegaly, Depressed nasal bridge, Rhizomelia, ...	OMIM:616638
Acromelic Frontonasal Dysplasia	Encephalocele, Ptosis, Telecanthus, Median cleft lip, Anterior pituitary hypoplasia, Broad nasal ...	ORPHA:1827
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Bicuspid aortic valve, Deep philtrum, Finger joint hypermobility, Sparse hair, Joint laxity, Juve...	OMIM:613563
Mend Syndrome	Micrognathia, High palate, Abnormal nasal bridge morphology, Dandy-Walker malformation, Hyperacti...	ORPHA:401973
Monosomy 22	Low-set, posteriorly rotated ears, Wide nose, Epicanthus, Aplasia of the thymus, Schwannoma, Syno...	ORPHA:96123
Cerebrooculofacioskeletal Syndrome 1	Micrognathia, Prominent nose, Flexion contracture, Abnormality of the ear, Knee flexion contractu...	OMIM:214150
Silver-Russell Syndrome 3	Frontal bossing, Unilateral cryptorchidism, Elbow contracture, Short stature, Postnatal growth re...	OMIM:616489
Chromosome 13Q14 Deletion Syndrome	Micrognathia, Anteverted ears, Deep philtrum, High palate, Holoprosencephaly, Chorioretinal colob...	OMIM:613884
Noonan Syndrome With Multiple Lentigines	Brachycephaly, Severe sensorineural hearing impairment, Atrioventricular canal defect, Spina bifi...	ORPHA:500
Cardiac-Valvular Ehlers-Danlos Syndrome	Thick eyebrow, Dental crowding, Short stature, Abnormal heart valve morphology, Severe conductive...	ORPHA:230851
Isolated Hemihyperplasia	Abnormality of the dentition, Cryptorchidism, Myelomeningocele, Nephroblastoma, Facial asymmetry	ORPHA:2128
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Micrognathia, High, narrow palate, Hydrocephalus, Ileus, Synophrys, Growth dela...	OMIM:620156
Joubert Syndrome	Encephalocele, Ptosis, Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Highly ar...	ORPHA:475
Waardenburg Syndrome, Type 4C	White eyelashes, Aganglionic megacolon, White eyebrow, Cryptorchidism, Sensorineural hearing impa...	OMIM:613266
Acrofrontofacionasal Dysostosis 2	Bifid scrotum, Wide nose, Posteriorly rotated ears, Hypospadias, Short stature, Widow's peak, Bra...	OMIM:239710
Autosomal Recessive Spondylocostal Dysostosis	Low-set, posteriorly rotated ears, Hypospadias, Camptodactyly of finger, Anteverted nares, Depres...	ORPHA:2311
Mucopolysaccharidosis Type 1	Sinusitis, Low anterior hairline, Widely spaced teeth, Microdontia, Chronic otitis media, Thick n...	ORPHA:579
Acrofacial Dysostosis 1, Nager Type	Sparse lower eyelashes, Congenital diaphragmatic hernia, Micrognathia, Aqueductal stenosis, Absen...	OMIM:154400
Sweeney-Cox Syndrome	Flat occiput, Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, Asplenia, Low anterior ha...	OMIM:617746
Retinitis Pigmentosa 59	Hepatomegaly, Renal insufficiency, Cryptorchidism, Sensorineural hearing impairment, Intrauterine...	OMIM:613861
9P13 Microdeletion Syndrome	External genital hypoplasia, Abnormality of cartilage of external ear, Hypoplastic toenails, Brac...	ORPHA:324313
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita...	ORPHA:177901
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Abnormal pulmonary...	ORPHA:1194
Braddock-Carey Syndrome 1	Anteriorly placed anus, Sparse hair, Agenesis of corpus callosum, Multicystic kidney dysplasia, A...	OMIM:619980
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Dental crowding, Micrognathia, High palate, Micropenis, Abnor...	OMIM:619005
Myasthenic Syndrome, Congenital, 18	Ptosis, Knee flexion contracture	OMIM:616330
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st...	ORPHA:98793
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Thin upper lip vermilion, Coarse facial features, Highly arched eyebrow, Growth delay, Long philt...	OMIM:616154
Three M Syndrome 1	Mandibular prognathia, Frontal bossing, Scapular winging, Triangular face, Hypospadias, Anteverte...	OMIM:273750
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Limitation of joint mobility	ORPHA:99966
Pseudoaminopterin Syndrome	Limited elbow movement, Micrognathia, Asplenia, Orofacial cleft, High palate, Short philtrum, Pat...	ORPHA:221120
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Thin upper lip vermilion, Mandibular prognathia, Dental crowding, Hypospadias, An...	ORPHA:435938
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect, Cryptorchidism, Myopathy, Lateral ventricle dilatation, Increased vari...	OMIM:616816
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Midface retrusion, Anteverted nares, Aplasia/Hypoplasia of the tongue, Cran...	ORPHA:1790
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Unilateral ptosis, Thin upper lip vermilion, Overriding aorta, Micrognathia, Frontal hirsutism, C...	ORPHA:3304
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Telecanthus, Abnormal pinna morphology, Hypospadias, Anteverted nares, Micrognathia, Depressed na...	OMIM:217980
Galloway-Mowat Syndrome 6	Epicanthus, Proteinuria, Decreased response to growth hormone stimulation test, Anteverted nares,...	OMIM:618347
Phelan-Mcdermid Syndrome	Micrognathia, Hypoplastic toenails, Protruding ear, High palate, Widely spaced teeth, Vesicourete...	OMIM:606232
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st...	ORPHA:98754
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Arboleda-Tham Syndrome	Mandibular prognathia, Anteverted ears, Bilateral cryptorchidism, Secundum atrial septal defect, ...	OMIM:616268
Robinow Syndrome	Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Pulmonary valve atresi...	ORPHA:97360
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Prominent nose, Brachycephaly, Short philtrum, Anteverted nares, Low-set ears, Triang...	OMIM:616801
Multiple Sulfatase Deficiency	Smooth philtrum, Hepatomegaly, Coarse facial features, Abnormality of retinal pigmentation, Antev...	ORPHA:585
Adams-Oliver Syndrome 6	Ventricular septal defect, Hypoplastic toenails, Splenomegaly, Esophageal varix, Renal hypoplasia...	OMIM:616589
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Clito...	OMIM:616894
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Mixed hearing impairment, Short stature, Choanal atresia, Prominent nasal bridge, Lop ear, Bilate...	OMIM:300472
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Short stature, Prominent nose, Anteverted ears, Aggressive behavior, Synophrys, De...	OMIM:615541
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Reticulocytopenia, Abnormality of skin pigmentation, Neutropenia, Micropenis, Pel...	OMIM:227646
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bicornuate uterus, Bifid uvula, Cleft palate	OMIM:258320
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Impulsivity, Aggressive behavior, Cryptorchidism, Hydrocephalus, Flexion contractu...	ORPHA:500055
Myopathy, Centronuclear, X-Linked	Narrow face, Facial palsy, Cryptorchidism, Pyloric stenosis, Flexion contracture, Dental malocclu...	OMIM:310400
Coloboma, Ocular, Autosomal Recessive	Optic disc coloboma, Retinal coloboma, Iris coloboma	OMIM:216820
Bardet-Biedl Syndrome	Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidn...	ORPHA:110
Proboscis Lateralis	External genital hypoplasia, Abnormal morphology of bony orbit of skull, Single naris, Orofacial ...	ORPHA:141099
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Cleft upper lip, Pericardial effusion, Short nose, Depres...	OMIM:613885
Kaufman Oculocerebrofacial Syndrome	Narrow face, Micrognathia, Brachycephaly, High palate, Atrial septal defect, Sparse hair, Long fa...	OMIM:244450
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Long face, Hypospadias, Ventricular septal defect, Supernumerary nipple, Underdeve...	ORPHA:217346
Arthrogryposis, Distal, Type 1A	Hip contracture, Ptosis, Decreased hip abduction, Short stature, Cryptorchidism, Sensorineural he...	OMIM:108120
Congenital Disorder Of Glycosylation, Type 2V	Thin upper lip vermilion, Ptosis, Epicanthus, Underdeveloped nasal alae, Bulbous nose, Wide nasal...	OMIM:619493
Lig4 Syndrome	Hypoplasia of penis, Micrognathia, Low anterior hairline, Brachycephaly, Biparietal narrowing, Hy...	ORPHA:99812
Fabry Disease	Conjunctival telangiectasia, Anorexia, Reduced bone mineral density, Nephropathy, Glomerulopathy,...	ORPHA:324
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Short stature, Ventricular sept...	OMIM:249270
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Ptosis, Dandy-Walker malformation, Flat occiput, Optic nerve hypoplasia, Low anterior hairline, B...	OMIM:618736
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Small scrotum, Downturned corners of mo...	ORPHA:2215
Genitopatellar Syndrome	Small scrotum, Micrognathia, Prominent nose, Knee flexion contracture, Atrial septal defect, Agen...	ORPHA:85201
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Micrognathia, Aplasia of the pectoralis major muscle, Glandular hypospad...	ORPHA:1358
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Decreased res...	OMIM:129900
Prader-Willi Syndrome	Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita...	ORPHA:739
Microphthalmia, Lenz Type	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Hydroureter, Abnormal dental morpho...	ORPHA:568
Fanconi Anemia, Complementation Group W	Decreased response to growth hormone stimulation test, Renal hypoplasia, Growth delay, Polyspleni...	OMIM:617784
Dubowitz Syndrome	Aplastic anemia, Micrognathia, Protruding ear, High palate, Otitis media, Iris coloboma, Hyperact...	OMIM:223370
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	OMIM:300998
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Decreased response to growth hormone stimulation test, Self-mutilation, Cranial hy...	ORPHA:457240
Acrofacial Dysostosis, Catania Type	Smooth philtrum, Low-set, posteriorly rotated ears, Microretrognathia, Hypospadias, Short stature...	ORPHA:1786
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Hepatomegaly, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Neona...	OMIM:613730
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Thin upper lip vermilion, Round face, Hyperactivity, Epicanthus, Telecanthus, Aggressive behavior...	OMIM:620292
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Orofacial cleft, Coloboma, Retinal...	ORPHA:324416
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteoscleros...	OMIM:300373
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Low anterior hairline, Brachycephaly, Cont...	OMIM:618223
Char Syndrome	Thick eyebrow, Highly arched eyebrow, Broad nasal tip, Patent ductus arteriosus, Protruding ear, ...	OMIM:169100
Global Developmental Delay With Speech And Behavioral Abnormalities	Thin upper lip vermilion, Joint hypermobility, Supernumerary nipple, Micrognathia, Precocious pub...	OMIM:619243
Rin2 Syndrome	Irregular dentition, Coarse facial features, Premature ovarian insufficiency, Hypergonadotropic h...	ORPHA:217335
Mend Syndrome	Micrognathia, High palate, Dandy-Walker malformation, Microretrognathia, Hyperactivity, Short sta...	OMIM:300960
Leukodystrophy, Hypomyelinating, 21	Hypogonadotropic hypogonadism, Cryptorchidism, Optic atrophy, Growth delay, Hypodontia	OMIM:619310
Frontofacionasal Dysplasia	Depressed nasal ridge, Brachycephaly, Limbal dermoid, Iris coloboma, Encephalocele, Depressed nas...	ORPHA:1791
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Meg...	OMIM:222300
Acrodysostosis	Mandibular prognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Brachycephaly, Abnormali...	ORPHA:950
Mucopolysaccharidosis, Type X	Coarse facial features, Thickened aortic valve cusp, Vitreous floaters, Diastema, Open bite, Disp...	OMIM:619698
Myoectodermal Gonadal Dysgenesis Syndrome	Clitoral hypoplasia, Agenesis of corpus callosum, Accessory spleen, Short stature, Elevated circu...	OMIM:618419
Fragile X Syndrome	Macroorchidism, postpubertal, Mandibular prognathia, Coarse facial features, Joint laxity, Hypera...	OMIM:300624
Microphthalmia, Syndromic 1	Dental crowding, Bicuspid aortic valve, High, narrow palate, Rectal prolapse, Orofacial cleft, Hi...	OMIM:309800
21Q22.11Q22.12 Microdeletion Syndrome	Dental crowding, Downturned corners of mouth, Atrial septal defect, Periorbital hyperpigmentation...	ORPHA:261323
Cockayne Syndrome A	Mandibular prognathia, Dry hair, Abnormal peripheral myelination, Prominent nose, Ivory epiphyses...	OMIM:216400
Fryns Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, High palate, Vesicoure...	ORPHA:2059
Acromelic Frontonasal Dysostosis	Brachycephaly, Agenesis of corpus callosum, Encephalocele, Cleft upper lip, Parietal foramina, Cr...	OMIM:603671
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Frontal bossing, Osteomyelitis, Short stature, Facial palsy, Recur...	ORPHA:53
Autism, Susceptibility To, X-Linked 3	Inflexible adherence to routines, Restrictive behavior, Abnormal repetitive mannerisms, Increased...	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Inflexible adherence to routines, Restrictive behavior, Abnormal repetitive mannerisms, Increased...	OMIM:300425
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Sensorineural hearing impairment, Nephrotic syndrome, Cardiomyopathy,...	OMIM:617713
6P22 Microdeletion Syndrome	Epicanthus, Patent ductus arteriosus, Hydrocephalus, Low-set ears, Overfolded helix, Hydronephros...	ORPHA:251046
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Dental crowding, Rectal prolapse, Brachycephaly, High palate, Sparse hair, Frontal hirsutism, Ant...	OMIM:617157
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Onychauxis, Fasting hyperinsulinemia, Low anterior hairli...	ORPHA:769
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Flat occiput, Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Ap...	ORPHA:2232
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Anteverted nares, Pro...	ORPHA:1454
Myasthenic Syndrome, Congenital, 17	Type 1 muscle fiber predominance, Ptosis	OMIM:616304
Distal Deletion 15Q	Flat occiput, Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, Generalized j...	ORPHA:1596
Paternal Uniparental Disomy Of Chromosome 6	Neonatal insulin-dependent diabetes mellitus, Micrognathia, Prominent nose, Cardiomegaly, High pa...	ORPHA:96191
Peroxisome Biogenesis Disorder 5A (Zellweger)	Micrognathia, Renal cyst, High palate, Atrial septal defect, Pachygyria, Agenesis of corpus callo...	OMIM:614866
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Short stature, Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hor...	ORPHA:171706
Spinocerebellar Ataxia-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Anteverted nares, Short stature, Optic atrophy, Re...	ORPHA:1185
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Cryptorchidism, Fine hair, Hypodontia, Sparse hair, Microdontia, Triangular face	ORPHA:1174
Hogue-Janssen Syndrome 2	Ventriculomegaly, Tented upper lip vermilion, Anteverted nares, Facial hypotonia, Unilateral rena...	OMIM:616362
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Biparietal narrowing, Holopro...	ORPHA:818
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Thin upper lip vermilion, Overfriendliness, Tented upper lip vermilion, Facial hypotonia, Diastas...	OMIM:616579
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Downturned corners of mouth, Compulsive behaviors, Conductive he...	ORPHA:1001
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Micrognathia, High palate, Short philtrum, Compulsive behaviors, Atrial septal defect, Abnormal r...	OMIM:300986
3Mc Syndrome 1	Conjunctival telangiectasia, Dental crowding, Synophrys, Epicanthus inversus, Atrial septal defec...	OMIM:257920
Oculofaciocardiodental Syndrome	Narrow face, Oligodontia, Fused teeth, Iris coloboma, Highly arched eyebrow, Patent ductus arteri...	ORPHA:2712
Intellectual Developmental Disorder With Autism And Speech Delay	Joint laxity, Pachygyria, Abnormal repetitive mannerisms	OMIM:606053
Hurler Syndrome	Abnormality of skin pigmentation, Endocardial fibroelastosis, Abnormal nerve conduction velocity,...	ORPHA:93473
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Posteriorly rotated ears, Urinary incontinence, Facial palsy,...	OMIM:301041
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Distal lower limb amyotrophy, Restless legs, Hand muscle weakness, Quadriceps muscle weakness, Se...	ORPHA:99947
Chromosome 9P Deletion Syndrome	Narrow nail, Micrognathia, High, narrow palate, Deep philtrum, High palate, Atrial septal defect,...	OMIM:158170
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thin upper lip vermilion, Short stature, Micrognathia, Underdeveloped nasal alae, Bulbous nose, F...	OMIM:616549
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Renal cyst, Hematuria, Renal tubul...	OMIM:610205
Microphthalmia, Syndromic 2	Narrow face, Anteverted ears, Flexion contracture, Oligodontia, Fused teeth, Laterally curved eye...	OMIM:300166
Hamamy Syndrome	Osteopenia, Micrognathia, Microcytic anemia, Brachycephaly, High palate, Atrial septal defect, Sp...	OMIM:611174
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, Skeletal muscle atrophy, Decreased muscle mass, Ptosis, Facial palsy, Dent...	OMIM:608931
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Telecanthus, Abnormal spaced incisors, Anteverted nares, Prominent nasal bridge, Broad nasal tip,...	ORPHA:411986
Poland Syndrome	Encephalocele, Duplicated collecting system, Atrial septal defect, Diabetes mellitus, Hypospadias...	ORPHA:2911
Vacterl/Vater Association	Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Congenital diaphragmatic hernia, Ect...	ORPHA:887
Phosphoribosylpyrophosphate Synthetase Superactivity	High palate, Sparse hair, Uric acid nephrolithiasis, Hypospadias, Depressed nasal bridge, Short s...	OMIM:300661
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Mandibular prognathia, Osteopenia, Dental crowding, High palate, Small earlobe, Long face, Joint ...	OMIM:620083
Warburg Micro Syndrome 2	Small scrotum, Prominent nasal bridge, Asymmetry of the ears, Postnatal growth retardation, Crypt...	OMIM:614225
Autism	Inflexible adherence to routines, Restrictive behavior, Abnormal repetitive mannerisms, Increased...	OMIM:209850
Autism, Susceptibility To, 8	Inflexible adherence to routines, Restrictive behavior, Abnormal repetitive mannerisms, Increased...	OMIM:607373
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Cryptorchid...	ORPHA:457205
Chromosome 5Q12 Deletion Syndrome	Frontal bossing, Coarse facial features, Ptosis, Posteriorly rotated ears, Ventricular septal def...	OMIM:615668
Mesomelia-Synostoses Syndrome	Micrognathia, High, narrow palate, Synostosis of carpal bones, Short stature, Aplasia/Hypoplasia ...	ORPHA:2496
Oculoauriculofrontonasal Syndrome	Encephalocele, Wide nose, Ventricular septal defect, Micrognathia, Underdeveloped nasal alae, Cle...	ORPHA:398156
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Frontal bossing, Telecanthus, Posteriorly rotated ears, Optic nerve hypoplasia, Joint hypermobili...	OMIM:607597
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Micrognathia, Synophrys, Epicanthus inversus, Low anterior hairline, ...	OMIM:613458
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Ptosis, Macrodontia, Anteverted nares, Protruding ear, Downturned corners of mouth, Tooth agenesi...	OMIM:618731
Neonatal Adrenoleukodystrophy	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Anteverted nares, Short s...	ORPHA:44
Neurooculorenal Syndrome	Ectopic posterior pituitary, Decreased circulating cortisol level, Micrognathia, Aqueductal steno...	OMIM:620305
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val...	ORPHA:75566
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Dow...	OMIM:613443
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Brachycephaly, Renal cyst,...	ORPHA:1606
Prader-Willi Syndrome	Osteopenia, Decreased muscle mass, Small scrotum, Decreased response to growth hormone stimulatio...	OMIM:176270
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Micrognathia, Hypoplasia of the maxilla, Atrial septal defect, Conductive hearing ...	ORPHA:79113
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Frontal bossing, Curly hair, Hypospadias, Depressed nasal bridge, Diastasis ...	ORPHA:457485
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract...	OMIM:259710
Wiedemann-Steiner Syndrome	Decreased response to growth hormone stimulation test, Synophrys, High palate, Dilatation of rena...	ORPHA:319182
Monosomy 9P	Congenital diaphragmatic hernia, Micrognathia, Synophrys, Brachycephaly, Anotia, High palate, Age...	ORPHA:261112
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Micrognathia, Renal cyst, Absent or minimally ossified vertebral bodies, Age...	ORPHA:93271
Trisomy 8P	Multiple joint contractures, Abnormal atrioventricular connection, Fetal pyelectasis, Nephrocalci...	ORPHA:264450
Baraitser-Winter Cerebrofrontofacial Syndrome	Micrognathia, Prominent nose, Long nose, Pachygyria, Heterochromia iridis, Iris coloboma, Abnorma...	ORPHA:2995
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Rubinstein-Taybi Syndrome	Ptosis, Epicanthus, Telecanthus, Short stature, Highly arched eyebrow, Abnormality of the dentiti...	ORPHA:783
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro...	ORPHA:3077
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Frontal bossing, Posteriorly rotated ears, Decreased response to growth...	OMIM:241410
Ring Chromosome 7 Syndrome	Mandibular prognathia, Unilateral ptosis, Low anterior hairline, Brachycephaly, Abnormality of sk...	ORPHA:1449
Specc1L-Related Hypertelorism Syndrome	Ectopic kidney, Brachycephaly, Orofacial cleft, Atrial septal defect, Advanced eruption of teeth,...	ORPHA:1519
Monosomy 18P	Alopecia, Epicanthus, Short stature, Micrognathia, Carious teeth, Brachycephaly, Cleft palate, Pr...	ORPHA:1598
Osteopathia Striata-Cranial Sclerosis Syndrome	Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Conductive hearing impairment, Sp...	ORPHA:2780
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Generalized joint laxity, Functional abnormality of the bladder, Protrudin...	ORPHA:2953
Kbg Syndrome	Tented upper lip vermilion, Epispadias, Synophrys, Low anterior hairline, Brachycephaly, Protrudi...	OMIM:148050
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Sex reversal	ORPHA:85112
Chromosome Xq13 Duplication Syndrome	Mandibular prognathia, Thin upper lip vermilion, Medial flaring of the eyebrow, Hyperactivity, Po...	OMIM:301069
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Frontal bossing, Ventriculomegaly, Posteriorly rotated ears, Thick nasal alae, Micrognathia, Hydr...	ORPHA:163961
Bachmann-Bupp Syndrome	Thin upper lip vermilion, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Aggressive behavio...	OMIM:619075
Autosomal Recessive Progressive External Ophthalmoplegia	Ptosis, Scapular winging, Facial palsy, Abnormal cerebrospinal fluid morphology, Hand muscle weak...	ORPHA:254886
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Unilateral ptosis, Narrow face, Decreased muscle mass, Dental crowding, Ec...	ORPHA:3063
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasi...	ORPHA:2345
Chromosome 15Q25 Deletion Syndrome	Tented upper lip vermilion, Flat occiput, Congenital diaphragmatic hernia, Synophrys, Dilatation ...	OMIM:614294
Peho Syndrome	Ventriculomegaly, Epicanthus, Anteverted nares, Palpebral edema, External ear malformation, Hydro...	ORPHA:2836
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, ...	OMIM:265000
Mucopolysaccharidosis, Type Vii	Flexion contracture, Coarse hair, Widely spaced teeth, Hepatomegaly, Short stature, Gingival over...	OMIM:253220
Cardiofaciocutaneous Syndrome 4	Joint laxity, Absent eyebrow, Narrow face, Curly hair, Short stature, Optic nerve hypoplasia, Dec...	OMIM:615280
Myasthenic Syndrome, Congenital, 13	Muscle fiber tubular inclusions, Ptosis	OMIM:614750
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Anteverted nares, Short stature,...	ORPHA:2031
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bicuspid aortic valve, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguo...	ORPHA:1772
Hypertrichosis Cubiti	Ptosis, Round face, Severe short stature, Rhizomelia, Prominent nasal bridge, Abnormal nasolacrim...	ORPHA:2220
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Urinary incontinence, Long nose, Hypoplastic toenails, Downturned corners of ...	OMIM:619522
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Posteriorly rotated ears, Hypospadias, Depressed nasal bridge, Microgna...	OMIM:603736
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Rhizomelia, Hydrocephalus, Agenesis of corpus callosum, Thrombocytopenia	OMIM:166990
Shprintzen-Goldberg Syndrome	Osteopenia, Communicating hydrocephalus, Micrognathia, Hypoplasia of the maxilla, High, narrow pa...	ORPHA:2462
Optic Pathway Glioma	Papilledema, Precocious puberty, Hydrocephalus, Neurofibroma, Optic atrophy, Vertigo, Growth delay	ORPHA:2086
Cardiomyopathy, Dilated, 1U	Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:613694
Monosomy 9Q22.3	Cardiac fibroma, Orofacial cleft, Odontogenic keratocysts of the jaw, Hyperactivity, Joint hyperf...	ORPHA:77301
Tetrasomy 15Q26	Microretrognathia, Patent ductus arteriosus, Cupped ear, Hydrocephalus, Horseshoe kidney, High pa...	OMIM:614846
Pituitary Adenoma 1, Multiple Types	Coarse facial features, Elevated circulating growth hormone concentration, Pituitary adenoma, Irr...	OMIM:102200
Meckel Syndrome	Ureteral duplication, Micrognathia, Asplenia, Depressed nasal ridge, Urethral atresia, Dandy-Walk...	ORPHA:564
Roberts-Sc Phocomelia Syndrome	Micrognathia, Brachycephaly, Knee flexion contracture, Coloboma, Eyelid coloboma, High palate, Sh...	OMIM:268300
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Calf muscle pseudohypertrophy, Hypoglycosylati...	ORPHA:370959
Macs Syndrome	Irregular dentition, Micrognathia, High palate, Sparse hair, Joint laxity, Alopecia, Short statur...	OMIM:613075
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CS...	OMIM:610333
C Syndrome	Micrognathia, High palate, Thick anterior alveolar ridges, Hepatomegaly, Anteverted nares, Short ...	OMIM:211750
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Optic atrophy, Gray matter ...	OMIM:615191
Cardiomyopathy, Familial Hypertrophic, 21	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse	OMIM:614676
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Frontal bossing, Dental crowding, Anteverted nares, Prominent nasal br...	OMIM:618825
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Depressed nasal bridge, Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, D...	OMIM:617241
3-Methylglutaconic Aciduria, Type V	Noncompaction cardiomyopathy, Diaphragmatic eventration, Hypospadias, Postnatal growth retardatio...	OMIM:610198
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Short stature, Unilateral renal agenesis, Cleft upper lip, Ectopic kidney, Microg...	OMIM:601076
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Narrow face, Atrial septal defect, A...	ORPHA:1915
Yunis-Varon Syndrome	Abnormal occipital bone morphology, Micrognathia, High, narrow palate, Cardiomegaly, Broad second...	ORPHA:3472
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Dysplastic corpus callosum, Cryptorchidism, Perimembranous ventricular...	OMIM:620135
X-Linked Lissencephaly With Abnormal Genitalia	Hypoplasia of penis, Aganglionic megacolon, Ventricular septal defect, Malabsorption, Micrognathi...	ORPHA:452
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Decreased res...	OMIM:604292
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Micrognathia, Prominent nose, Depressed nasal ridge, Brachycephaly, Protru...	OMIM:156200
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Renal agenesis, Short stature, Frontal balding, Synophrys, Cleft palate, Protrudin...	ORPHA:247768
Genitopalatocardiac Syndrome	Hypospadias, Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Renal cyst, ...	OMIM:231060
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Decreased muscle mass, Dental cro...	OMIM:309583
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Skeletal muscle atrophy, Micrognathia, Prominent nose, High, narrow palate...	ORPHA:435638
Craniofrontonasal Syndrome	Ridged nail, Congenital diaphragmatic hernia, Brachycephaly, Agenesis of corpus callosum, Joint l...	OMIM:304110
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Asplenia, Conductive hearing impairment, Chronic otitis media, Abnormal s...	ORPHA:244
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Narrow face, Small scrotum, Brachycephaly, Protruding ear, Posterior plagi...	OMIM:620330
Noonan Syndrome 2	Micrognathia, High palate, Atrial septal defect, Atrioventricular canal defect, Short stature, Sp...	OMIM:605275
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enlarged sylvian cistern, Skeletal muscle atrophy, Depressed nasal bridge, Short stature, Highly ...	OMIM:615802
Intellectual Developmental Disorder, Autosomal Dominant 22	Micrognathia, Long nose, Fetal pyelectasis, Short philtrum, Agenesis of corpus callosum, Depresse...	OMIM:612337
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy, Optic atrophy	ORPHA:401866
Christianson Syndrome	Mandibular prognathia, Narrow face, Decreased muscle mass, Thick eyebrow, Abnormality of the nose...	ORPHA:85278
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Arthrogryposis multiplex congenita, Polymicrogyria, Abnormal repetitive ...	OMIM:615282
Nizon-Isidor Syndrome	Unilateral ptosis, High, narrow palate, Downturned corners of mouth, Short philtrum, Agenesis of ...	OMIM:618872
Mosaic Trisomy 8	Micrognathia, Protruding ear, High palate, Vesicoureteral reflux, Agenesis of corpus callosum, Hy...	ORPHA:96061
Smith-Magenis syndrome	Abnormal repetitive mannerisms, Hyperactivity, Short stature, Self-mutilation	DECIPHER:8
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Bilateral ptosis, Renal hypoplasia, Perimembran...	OMIM:611376
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Synophrys, Hydrocephalus, Wide nasal bridge, Protruding ear, Narrow pa...	OMIM:618302
Postaxial Acrofacial Dysostosis	Conical tooth, Micrognathia, Eyelid coloboma, Conductive hearing impairment, Micropenis, Abnormal...	OMIM:263750
8p23.1 deletion syndrome	Hyperactivity, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Atrial...	DECIPHER:39
Toluene Embryopathy	Epicanthus, Short stature, Micrognathia, Cryptorchidism, Abnormal localization of kidney, Protrud...	ORPHA:1920
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Coarse facial features, Hypergonadotropic hypogonadism, Shor...	ORPHA:3085
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Ventriculomegaly, Short stature, Abnormality of the kidney, Uplifted earlobe, Abnorm...	ORPHA:261652
Teebi-Shaltout Syndrome	High, narrow palate, Low anterior hairline, Oligodontia, Sparse hair, Small earlobe, Prominent pa...	OMIM:272950
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Mandibular prognathia, Round face, Coarse facial features, Depressed nasal bridge, Prominent nasa...	OMIM:618505
Autosomal Recessive Amelia	Hypoplasia of penis, Small scrotum, Micrognathia, Cryptorchidism, Non-midline cleft lip, Orofacia...	ORPHA:1027
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Ptosis, Short stature, Facial palsy, Micrognathia, Dilated cardiomyopathy, Myopathy, Type 1 fiber...	OMIM:300580
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Hypoparathyroidism, Intestinal obstruction, Hypoplasia of peni...	ORPHA:2323
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Renal cyst, Protruding ear, Abnormal facial shape, Micropenis, Pelvic kidney, Abnormal repetitive...	ORPHA:464311
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Anteriorly placed anus, Atrial septal defect, Histiocytoid cardi...	OMIM:309801
Ulbright-Hodes Syndrome	Maternal diabetes, Micrognathia, High palate, Abnormal penis morphology, Abnormal external genita...	ORPHA:3404
Childhood-Onset Nemaline Myopathy	Ptosis, Narrow face, Scapular winging, Micrognathia, Flexion contracture, Increased muscle lipid ...	ORPHA:171439
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Short philtrum, Male uret...	ORPHA:464738
Prune Belly Syndrome	Abnormality of the uterus, Atrial septal defect, Vesicoureteral reflux, Multicystic kidney dyspla...	ORPHA:2970
Microphthalmia With Limb Anomalies	Deep philtrum, Camptodactyly of 2nd-5th fingers, High palate, Depressed nasal bridge, Cleft upper...	OMIM:206920
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Uplifted earlobe, Micrognathia, Synophrys, Low anterior hairline, Ureterocele, Mic...	OMIM:616734
Cree Mental Retardation Syndrome	Bifid scrotum, Hypospadias, Posteriorly rotated ears, Cleft soft palate, Micrognathia, Cryptorchi...	OMIM:606851
Microcephaly 27, Primary, Autosomal Dominant	Joint hypermobility, Cryptorchidism, Simplified gyral pattern, Extra-axial cerebrospinal fluid ac...	OMIM:619180
Kabuki Syndrome 2	Micrognathia, Protruding ear, High palate, Atrial septal defect, Atrioventricular canal defect, J...	OMIM:300867
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Bicuspid aortic valve, High, narrow palate, Synophrys, Protruding ear, Abnormality...	OMIM:619475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Retinal dystrophy, Facial palsy, Hydrocephalus, Flexion contracture, Macroglossia, Cardiomyopathy...	OMIM:613155
Say-Barber-Miller Syndrome	Micrognathia, Protruding ear, Knee flexion contracture, Abnormal T cell morphology, Macular degen...	ORPHA:3132
Beemer-Ertbruggen Syndrome	Low-set, posteriorly rotated ears, Communicating hydrocephalus, Increased bone mineral density, M...	ORPHA:1237
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Short stature, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms, Ventriculomegaly	OMIM:617862
Greig Cephalopolysyndactyly Syndrome	Frontal bossing, Telecanthus, Craniosynostosis, Congenital diaphragmatic hernia, Hydrocephalus, W...	ORPHA:380
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Bicuspid aortic valve, Micrognathia, Hypoplasia of the maxilla, Protruding ear, ...	OMIM:616367
Pettigrew Syndrome	Mandibular prognathia, Long face, Coarse facial features, Thickened calvaria, Ventriculomegaly, P...	OMIM:304340
Meningioma	Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent...	ORPHA:2495
Developmental And Epileptic Encephalopathy 58	Abnormal repetitive mannerisms, Optic atrophy	OMIM:617830
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Synophrys, Brachycephaly, Anteverted nares, Short stature, Highly arched eyebrow, Wide nasal brid...	OMIM:614701
Microform Holoprosencephaly	Hypoplasia of penis, Tented upper lip vermilion, Maternal diabetes, Orofacial cleft, Short philtr...	ORPHA:280200
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Tented upper lip vermilion, Ectopic pancreatic tissue, Renal...	OMIM:229850
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Cryptorchidism, Flexion contracture, Dilated cardiomyopathy, Simplified gyral patter...	OMIM:618815
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Hepatomegaly	OMIM:616622
Autosomal Dominant Progressive External Ophthalmoplegia	Quadriceps muscle weakness, Ragged-red muscle fibers, Hypothyroidism, Hyperthyroidism, Facial pal...	ORPHA:254892
Hereditary Bullous Dystrophy, Macular Type	Turricephaly, Alopecia, Short stature, External genital hypoplasia, Congenital abnormal hair patt...	ORPHA:1867
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
Ritscher-Schinzel Syndrome 3	Thin upper lip vermilion, Anteverted nares, Periventricular nodular heterotopia, Highly arched ey...	OMIM:619135
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Precocious puberty, Dilated cardiomyopathy, Wide nasal bridge, Po...	ORPHA:2229
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Dental crowding, Ankle flexion contracture, Micrognathia, Flex...	OMIM:617468
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Limb-girdle muscle weakness, Bilateral ptosis, Optic atrophy, Dysphagia, Viral infection-induced ...	ORPHA:329314
Alg12-Cdg	Micrognathia, Abnormal peripheral nervous system morphology, Posterior plagiocephaly, Short philt...	ORPHA:79324
Beck-Fahrner Syndrome	Ptosis, Ventriculomegaly, Facial hypotonia, Ventricular septal defect, Lacrimal duct stenosis, Ca...	OMIM:618798
Renal Cysts And Diabetes Syndrome	Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ...	OMIM:137920
Martin-Probst Syndrome	Bifid scrotum, Micrognathia, Micropenis, Hypothyroidism, Short stature, Cryptorchidism, Wide nasa...	OMIM:300519
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Oral-pharyngeal dysphagia, H...	ORPHA:506358
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Intestinal obstruction, Hypopigmentation of hair, Aganglioni...	ORPHA:897
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Short stature, Abnormal mitral valve morphology, Cryptorchidism, Sensorineural heari...	ORPHA:1192
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Brachycephaly, Anteriorly placed anus, High palate, Choanal...	OMIM:218600
Neu-Laxova Syndrome 1	Swollen lip, Micrognathia, Depressed nasal ridge, Neonatal death, Pterygium, Agenesis of corpus c...	OMIM:256520
Microcephalic Primordial Dwarfism, Montreal Type	Narrow face, Severe short stature, Cryptorchidism, Premature graying of hair, Alopecia of scalp, ...	OMIM:210700
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Abnormal tricuspid valve morphology, Conductive hearing impairment, ...	ORPHA:580
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	Ptosis, Velopharyngeal insufficiency, Facial palsy, Dysphagia	OMIM:617732
Griscelli Syndrome	Encephalocele, Hepatomegaly, Abnormal eyebrow morphology, Short stature, Abnormality of neutrophi...	ORPHA:381
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Large face, Dental crowding, Abnormal heart valve morphology, Abnormality of the dentition, Dispr...	ORPHA:2868
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Thin upper lip vermilion, Highly arched eyebrow, Aggressive behavior, Secundum atrial septal defe...	OMIM:619121
Noonan Syndrome 3	High palate, Atrial septal defect, Left unilambdoid synostosis, Thickened helices, Patent foramen...	OMIM:609942
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hepatomegaly, Coarse facial features, Abnormality of the kidney, Protrud...	ORPHA:93400
Trichothiodystrophy	Osteopenia, Ridged nail, Multiple joint contractures, Brittle hair, High, narrow palate, Partial ...	ORPHA:33364
Ptosis, Hereditary Congenital 2	Ptosis	OMIM:300245
Isolated Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Short stature, Cryptorchidism, Osteoporosis, Myopathy	ORPHA:408
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Lacrimal duct stenosis, Sparse eyebr...	ORPHA:73246
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Micrognathia, Cardiomegaly, Secundum atrial septal defe...	OMIM:300855
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Optic atrophy, Gray matter heterot...	ORPHA:352682
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Peripheral axonal neuropathy, Optic nerve hypoplasia, Micrognathia, Crypto...	ORPHA:496790
Diamond-Blackfan Anemia 1	Micrognathia, Depressed nasal ridge, Reticulocytopenia, High palate, Neutropenia, Atrial septal d...	OMIM:105650
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Micrognathia, Downturned corners of mouth, Short philtrum, Atria...	ORPHA:280
Arthrogryposis, Distal, Type 5D	Decreased muscle mass, Limited elbow movement, Micrognathia, Hypermobility of distal interphalang...	OMIM:615065
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Short statu...	ORPHA:177910
Myopathy With Extrapyramidal Signs	Joint laxity, Hepatomegaly, Peripheral axonal neuropathy, Narrow face, Tented upper lip vermilion...	OMIM:615673
Hypotonia, Ataxia, And Delayed Development Syndrome	Deep philtrum, Synophrys, Downturned corners of mouth, Vesicoureteral reflux, Micropenis, Small e...	OMIM:617330
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Epicanthus, Abnormality of the philtrum, Abnormal oral mucosa morphology, ...	ORPHA:2673
Keipert Syndrome	Joint laxity, Unilateral ptosis, Wide nose, Exaggerated cupid's bow, Prominent nose, Sensorineura...	OMIM:301026
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Hypoplastic toenails, Epispadias, Conical incisor, Microdontia, ...	ORPHA:289
Ciliary Dyskinesia, Primary, 1	Male infertility, Communicating hydrocephalus, Nasal polyposis, Absent frontal sinuses, Absent ou...	OMIM:244400
Van Esch-O'Driscoll Syndrome	Protruding ear, Downturned corners of mouth, Shallow orbits, Atrial septal defect, Spina bifida o...	OMIM:301030
Miller-Dieker Lissencephaly Syndrome	Micrognathia, Pachygyria, Pelvic kidney, Thick upper lip vermilion, Anteverted nares, Cryptorchid...	OMIM:247200
Glass Syndrome	Dental crowding, Conical tooth, Micrognathia, Long nose, Oligodontia, High palate, Sparse hair, L...	OMIM:612313
Alagille Syndrome	Frontal bossing, Round face, Coarse facial features, Hepatomegaly, Ventricular septal defect, Ren...	ORPHA:52
Oculomotor-Abducens Synkinesis	Ptosis	OMIM:619215
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Anteverted nares, Bilateral ptosis, Deep philtrum, Brachycephaly, Downturned corners of mouth, In...	OMIM:618859
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Thin upper lip vermilion, Epicanthus, Telecanthus, Posteriorly rotated ears, Joint hy...	OMIM:618590
Macrocephaly-Developmental Delay Syndrome	Mandibular prognathia, Frontal bossing, Microretrognathia, Palpebral edema, Craniosynostosis, Sca...	ORPHA:397612
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Intrauterine growth retardation, Decreased level of coenzyme Q10 in...	OMIM:614654
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Narrow face, Ptosis, Facial palsy, Flexion contracture, Knee flexion con...	OMIM:616313
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Ptosis, Hypospadias, Cleft soft palate, Facial asymmetry, Micrognathia, Anteverted nares, Cryptor...	ORPHA:2282
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral pat...	OMIM:619302
Silver-Russell Syndrome	Low-set, posteriorly rotated ears, Abnormality of male external genitalia, Decreased muscle mass,...	ORPHA:813
Short Stature-Micrognathia Syndrome	Joint laxity, Small scrotum, Short stature, Rhizomelia, Ventricular septal defect, Micrognathia, ...	OMIM:617164
Atrial Fibrillation, Familial, 6	Left ventricular hypertrophy, Left atrial enlargement	OMIM:612201
Fibrosis Of Extraocular Muscles, Congenital, 5	Ptosis	OMIM:616219
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Round face, Decreased serum testosterone concentrati...	OMIM:619326
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Bilateral ptosis, Cleft palate, High palate, Low-set ears, Compulsive behaviors, Attention defici...	OMIM:620021
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Short stature, Accessory oral frenulum, Umbilical ...	ORPHA:1373
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Optic disc pallor, Hepatomegaly, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricu...	OMIM:619167
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Flat occiput, Micrognathia, Partial agenesis of the corpus callosum, Simplified gyral pattern, Co...	ORPHA:300570
Cardiomyopathy, Dilated, 1Kk	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ventricular se...	OMIM:615248
Cornelia De Lange Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Synophrys, Low anterior hairl...	ORPHA:199
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Micrognathia, Cryptorchidism, Osteoarthritis, Generalized joint laxity, Osteoporosis,...	OMIM:618000
Acrocraniofacial Dysostosis	Micrognathia, Short philtrum, Abnormality of the malleus, Conductive hearing impairment, Advanced...	ORPHA:949
Thumb Agenesis, Short Stature, And Immunodeficiency	Abnormal cardiac septum morphology, Anosmia, Short stature, Delayed puberty	OMIM:274190
White-Sutton Syndrome	Congenital diaphragmatic hernia, Brachycephaly, Downturned corners of mouth, High palate, Short p...	ORPHA:468678
Muenke Syndrome	Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, High, narrow palate, Sensorin...	ORPHA:53271
Ring Chromosome 1 Syndrome	Round face, Telecanthus, Anteverted nares, Abnormal hair pattern, Wide nasal bridge, Downturned c...	ORPHA:1437
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Small scrotum, Brachycephaly, Shallow orbits, Depressed nasal bridge, Cryptorchidism, Microtia, L...	OMIM:601353
Ptosis, Strabismus, And Ectopic Pupils	Ptosis	OMIM:178330
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Frontal bossing, Coarse facial features, Ant...	ORPHA:884
Joubert Syndrome 2	Encephalocele, Frontal bossing, Renal insufficiency, Enlarged fossa interpeduncularis, Depressed ...	OMIM:608091
Coloboma Of Macula	Macular coloboma	OMIM:120300
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Flat occiput, Dental crowding, Chorioretinal dysplasi...	ORPHA:534
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Ptosis, Round face, Short stature, Joint hypermobility, Narrow mouth, Wide nasal bridge, Downturn...	OMIM:617333
Cog5-Cdg	Hepatomegaly, Neurogenic bladder, Posteriorly rotated ears, Urinary incontinence, Camptodactyly o...	ORPHA:263487
Intellectual Developmental Disorder, Autosomal Dominant 29	Dental crowding, Synophrys, Brachycephaly, High palate, Long face, Hyperactivity, Cryptorchidism,...	OMIM:616078
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Focal Dermal Hypoplasia	Ridged nail, Ureteral duplication, Linear hyperpigmentation, Cleft ala nasi, Brittle hair, Congen...	OMIM:305600
Fetal Akinesia Deformation Sequence 1	Decreased muscle mass, Elbow contracture, Micrognathia, High, narrow palate, Congenital contractu...	OMIM:208150
Codas Syndrome	Delayed eruption of teeth, Epicanthus, Hydroureter, Abnormal dental morphology, Abnormal dental e...	ORPHA:1458
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,...	ORPHA:90793
Mosaic Trisomy 1	Hypoplastic thumbnail, Congenital diaphragmatic hernia, Orofacial cleft, Renal cyst, Congenital b...	ORPHA:1692
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Posteriorly rotated ears, ...	OMIM:618430
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Hypospadias, Renal agenesis, Congenital diaphragmatic hernia, ...	ORPHA:1335
Diastrophic Dysplasia	Low-set, posteriorly rotated ears, Increased bone mineral density, Depressed nasal bridge, Campto...	ORPHA:628
Craniosynostosis 6	Turricephaly, Dandy-Walker malformation, Craniosynostosis, Parietal foramina, Sensorineural heari...	OMIM:616602
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Congeni...	ORPHA:3455
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypercalci...	ORPHA:251274
Severe Early-Childhood-Onset Retinal Dystrophy	Optic disc pallor, Bone spicule pigmentation of the retina, Abnormality of retinal pigmentation, ...	ORPHA:364055
Penile Agenesis	Maternal diabetes, Fetal pyelectasis, Bilateral renal hypoplasia, Absent penis, Atrial septal def...	ORPHA:49
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Premature ovarian insufficiency, Ventricular septal defect, E...	OMIM:613680
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Vesicoureteral reflux, Conductive hearing impairment, Atrial sep...	OMIM:157800
Intellectual Developmental Disorder With Autism And Macrocephaly	Wide nose, Posteriorly rotated ears, Pica, Wide nasal bridge, Long philtrum, Open mouth, Recurren...	OMIM:615032
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ...	OMIM:300400
Craniopharyngioma	Neoplasm of the anterior pituitary, Papilledema, Hypogonadotropic hypogonadism, Abnormal nasal bo...	ORPHA:54595
Arthrogryposis, Distal, Type 3	Ptosis, Decreased muscle mass, Decreased hip abduction, Short stature, Camptodactyly of finger, E...	OMIM:114300
Fanconi Anemia, Complementation Group O	Short stature, External genital hypoplasia, Cryptorchidism, Rectal atresia, Stage 5 chronic kidne...	OMIM:613390
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Plagiocephaly, Gray matter heterotopia, Lateral vent...	OMIM:600348
Bone Marrow Failure Syndrome 3	Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Reduced bone mineral density, Do...	OMIM:617052
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Micrognathia, Deep philtrum, Brachycephaly, Coarse hair, High palate, Long face, Anteve...	ORPHA:1974
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Calcinosis, Micrognathia, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcin...	OMIM:617913
X-Linked Intellectual Disability, Seemanova Type	Skeletal muscle atrophy, Epicanthus, Hypoplasia of the musculature, Cryptorchidism, Retrognathia,...	ORPHA:85323
Severe Intellectual Disability And Progressive Spastic Paraplegia	Everted upper lip vermilion, Coarse facial features, Short stature, Facial hypotonia, Generalized...	ORPHA:280763
Developmental And Epileptic Encephalopathy 49	Frontal bossing, Coarse facial features, Tented upper lip vermilion, Ventriculomegaly, Thick eyeb...	OMIM:617281
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Tented upper lip vermilion, Urinary incontinence, Long nose, Self-biting, ...	OMIM:300912
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi...	OMIM:151050
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Micrognathia, Partial agenesis of the corpus callosum, Aortic valve atresi...	OMIM:220111
Spastic Ataxia 1, Autosomal Dominant	Ptosis, Dysphagia, Leg muscle stiffness	OMIM:108600
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Severe short stature, Depressed nasal bridge, Camptodactyly of...	ORPHA:2635
Nager Syndrome	Low-set, posteriorly rotated ears, Ptosis, Sparse lower eyelashes, Unilateral renal agenesis, Mic...	ORPHA:245
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased muscle mass, Dental crowding, Decreased response to growth hormone stimulation test, Mi...	ORPHA:96182
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Renal insufficiency, Dysuria, Hashimoto thyroiditis, Anorexia, Renal tubular e...	ORPHA:49041
Vacterl With Hydrocephalus	Microtia, third degree, Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Micrognathia, Eso...	ORPHA:3412
Isotretinoin-Like Syndrome	Anteverted nares, Bicuspid aortic valve, Micrognathia, Postnatal growth retardation, Patent ductu...	ORPHA:2306
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum testosterone concentration, Skeletal muscle atrophy, Streak ovary, Abnormality of...	ORPHA:168563
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate, Addictive alcohol use, Le...	ORPHA:90065
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis	OMIM:123155
Orofaciodigital Syndrome Type 6	Micrognathia, Bilateral cryptorchidism, Lobulated tongue, High palate, Biparietal narrowing, Cond...	ORPHA:2754
Char Syndrome	Ptosis, Depressed nasal bridge, Ventricular septal defect, Supernumerary nipple, Persistence of p...	ORPHA:46627
Menke-Hennekam Syndrome 1	Short ear, Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Protruding ea...	OMIM:618332
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Subcortical heterotopia, Partial agenesis of the corpus callosum, Retinal dysplasia, Pachygyria, ...	OMIM:614643
Thakker-Donnai Syndrome	Communicating hydrocephalus, Posteriorly rotated ears, Anteverted nares, Congenital diaphragmatic...	ORPHA:1780
Chromosome 15Q11.2 Deletion Syndrome	Irregular dentition, Coarse facial features, Short stature, Elbow contracture, Narrow nose, Micro...	OMIM:615656
Oculoskeletodental Syndrome	Hepatomegaly, Coarse facial features, Epicanthus, Renal agenesis, Short stature, Cryptorchidism, ...	OMIM:618440
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen...	OMIM:601152
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Ventriculomegaly, Hyperactivity, Anteverted nares, Optic nerve hypoplasia, Unilateral renal agene...	ORPHA:457284
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Synophrys, Hypertrophy of the urinary bladder, Large fleshy ears, Hig...	ORPHA:280633
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Joint laxity, Hypospadias, Proteinuria, Glomerulonephritis, Synophrys, Gingival overgrowth, Fine ...	OMIM:619428
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Abnormal dental morphology, Short stature, Micrognathia, Malar prominence, Abnormali...	ORPHA:2522
Apparent Mineralocorticoid Excess	Renal insufficiency, Hypertensive retinopathy, Short stature, Abnormal urine sodium concentration...	ORPHA:320
Intellectual Developmental Disorder, Autosomal Dominant 7	Thin upper lip vermilion, Hyperactivity, Abnormal pinna morphology, Short stature, Micrognathia, ...	OMIM:614104
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Camptodactyly of 2nd-5th fingers, High palate, Synostosi...	ORPHA:1106
Duplication Of Urethra	Bifid scrotum, Urethral stricture, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia...	ORPHA:237
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Unilateral cryptorchidism, Sparse eyelashes, Micrognathia, Cleft palate, Persi...	OMIM:300946
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Epicanthus, Absent nipple, Depressed nasal bridge, Patent ductus arteriosus, Hydrocephalus, Wide ...	OMIM:104350
Cockayne Syndrome B	Mandibular prognathia, Dry hair, Abnormal peripheral myelination, Ivory epiphyses of the phalange...	OMIM:133540
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Severe short stature, Posteriorly rotated ears, Micrognathia, Cryptorchi...	OMIM:224410
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, Renal hypoplasia, Increased CSF lactate, High palate, Hypertrophic cardi...	OMIM:619053
Reni Syndrome	Diffuse mesangial sclerosis, Lymphopenia, Proteinuria, Mesangial hypercellularity, Cryptorchidism...	OMIM:617575
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le...	ORPHA:99429
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Ptosis, Epicanthus, Limb joint contracture, Micrognath...	OMIM:618186
Attrv122I Amyloidosis	Restrictive cardiomyopathy, Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Abnor...	ORPHA:85451
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Prominent nose, Brachycephaly, Atrial septal defect, Bifid uvula, Dandy-Walker malformation, Join...	OMIM:300968
Bartsocas-Papas Syndrome 1	Ectopic kidney, Bilateral cryptorchidism, Hypoplasia of the maxilla, Micrognathia, Flexion contra...	OMIM:263650
Adnp Syndrome	Urinary incontinence, Oral-pharyngeal dysphagia, Brachycephaly, Protruding ear, Compulsive behavi...	ORPHA:404448
Encephalocraniocutaneous Lipomatosis	Linear hyperpigmentation, Alopecia, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Lim...	OMIM:613001
Primrose Syndrome	Skeletal muscle atrophy, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synophrys, Flexion ...	OMIM:259050
Cockayne Syndrome Type 2	Mandibular prognathia, Long face, Hepatomegaly, Hypermelanotic macule, Delayed eruption of primar...	ORPHA:90322
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Depressed nasal ridge...	ORPHA:672
Acalvaria	Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Cleft palate, Holoprosencephaly, ...	ORPHA:945
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Cryptorc...	ORPHA:1756
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Telecanthus, Short stature, Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Senso...	OMIM:109120
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Self-biting, High palate, Pat...	ORPHA:293939
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Frontal bossing, Midface retrusion, Decreased muscle mass, Narrow nasal ridge, Bulbou...	OMIM:612940
Chromosome Xq27.3-Q28 Duplication Syndrome	Short stature, Cryptorchidism, Increased circulating gonadotropin level, Bulbous nose, Thin vermi...	OMIM:300869
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Congenital diaphragmatic hernia, Long nose, Downturned corners of mouth, High pa...	OMIM:617602
Pitt-Hopkins Syndrome	Coarse facial features, Hyperconvex nail, Supernumerary nipple, Cryptorchidism, Deep philtrum, Cu...	OMIM:610954
Rhyns Syndrome	Osteopenia, Ptosis, Multicystic kidney dysplasia, Nephronophthisis, Hypopituitarism, Rod-cone dys...	ORPHA:140976
Fg Syndrome 3	Hyperactivity, Pyloric stenosis, Sensorineural hearing impairment, Cryptorchidism, Fine hair, Fro...	OMIM:300406
Alagille Syndrome 1	Long nose, Multiple small medullary renal cysts, Papillary thyroid carcinoma, Atrial septal defec...	OMIM:118450
2Q23.1 Microduplication Syndrome	Thin upper lip vermilion, Dental crowding, Highly arched eyebrow, Abnormality of the dentition, P...	ORPHA:313947
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair, Dental crowding, Oral-pharyngeal dysphagia, Long nose, Oligodontia, Atrial septal d...	OMIM:619184
Rhombencephalosynapsis	Low-set, posteriorly rotated ears, Microretrognathia, Septo-optic dysplasia, Ventriculomegaly, Ag...	ORPHA:59315
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Low anterior hairline,...	OMIM:135500
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Micrognathia, Anteriorly placed anus, Premature graying of hair, High pala...	OMIM:268400
13Q12.3 Microdeletion Syndrome	Thin upper lip vermilion, Hyperactivity, Short stature, Congenital diaphragmatic hernia, Underdev...	ORPHA:412035
Wagro Syndrome	Mandibular prognathia, Dental crowding, Proteinuria, Micrognathia, Aggressive behavior, Hypoplast...	OMIM:612469
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Interphalangeal...	ORPHA:1145
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ...	ORPHA:90796
Lamb-Shaffer Syndrome	Hyperactivity, Epicanthus, Mild postnatal growth retardation, Micrognathia, Broad nasal tip, Opti...	ORPHA:530983
Congenital Myopathy 13	Skeletal muscle atrophy, Micrognathia, Fatty replacement of skeletal muscle, Flexion contracture,...	OMIM:255995
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Palpebral ...	ORPHA:261144
9Q33.3Q34.11 Microdeletion Syndrome	Small scrotum, Brachycephaly, Micropenis, Abnormality of the kidney, Highly arched eyebrow, Crypt...	ORPHA:495818
Cardiomyopathy, Familial Hypertrophic, 20	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:613876
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Protruding ear, Abnormal ...	ORPHA:464306
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Short stature, Unilateral renal agenesis, Abnormal stomach morphology, Crypt...	ORPHA:281090
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Bifid scrotum, Joint hypermobility, Cryptorchidism, Glandular hypospadias, Retrognathia, Blind va...	ORPHA:456328
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he...	OMIM:243150
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency	Ptosis, Arthrogryposis multiplex congenita, High palate, Long face	OMIM:616326
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Bicuspid aortic valve, Micrognathia, Coloboma, High palate, Compulsive behaviors...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Bicuspid aortic valve, Micrognathia, Coloboma, High palate, Compulsive behaviors...	ORPHA:353277
Osteopetrosis, Autosomal Recessive 1	Frontal bossing, Increased bone mineral density, Osteomyelitis, Pancytopenia, Facial palsy, Crani...	OMIM:259700
Knobloch Syndrome	Occipital encephalocele, Retinal detachment, Epicanthus, Depressed nasal bridge, Dextrocardia, Ab...	ORPHA:1571
Seizures-Scoliosis-Macrocephaly Syndrome	Abnormality of the kidney, Cryptorchidism, Bulbous nose, Reduced bone mineral density, Long philt...	ORPHA:466926
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Round face, Optic disc pallor, Anteverted nares, Hepatome...	OMIM:216360
Houge-Janssens Syndrome 3	Frontal bossing, Epicanthus, Broad nasal tip, Muscular ventricular septal defect, Plagiocephaly, ...	OMIM:618354
Congenital Disorder Of Glycosylation, Type Iid	Myopathy, Hydrocephalus, Decreased muscle mass, Dandy-Walker malformation	OMIM:607091
Joubert Syndrome 36	Anteverted nares, Highly arched eyebrow, Sensorineural hearing impairment, Open mouth, Ptosis	OMIM:618763
Hengel-Maroofian-Schols Syndrome	Ptosis, Thick eyebrow, Epicanthus, Foot joint contracture, Short stature, Bicuspid aortic valve, ...	OMIM:619641
Oculopharyngodistal Myopathy 3	Ptosis, Internally nucleated skeletal muscle fibers, Sensorineural hearing impairment, Increased ...	OMIM:619473
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Bilateral cryptorchidism, Hypoplastic toenails, Dilated third ventricle, Absent eyebrow, Alopecia...	ORPHA:544488
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplas...	OMIM:617053
Tolchin-Le Caignec Syndrome	Hooded eyelid, Micrognathia, Prominent nose, High palate, Long face, Abnormal vestibular function...	OMIM:618971
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Myelomeningocele, Frequent temper...	OMIM:620141
Doors Syndrome	Adrenal hyperplasia, Short lingual frenulum, Low anterior hairline, Brachycephaly, Downturned cor...	ORPHA:79500
Diprosopus	Abnormality of retinal pigmentation, Abnormality of the nose, External ear malformation, Non-midl...	ORPHA:1681
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair...	ORPHA:33445
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Short stature, Ragged-red muscle fibers, Flexion contracture, Optic atrophy, Dilated cardiomyopat...	OMIM:252011
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Dec...	OMIM:605285
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Abnormal reproductive system morphology, Brachycephaly, Abnormal heart ...	ORPHA:70472
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spa...	OMIM:601349
Cerebellar-Facial-Dental Syndrome	Micrognathia, Sparse hair, Abnormal facial shape, Anteverted nares, Sparse eyebrow, Cryptorchidis...	ORPHA:444072
Peroxisome Biogenesis Disorder 9B	Total anosmia, Sensorineural hearing impairment, Anosmia, Cardiomyopathy, Rod-cone dystrophy	OMIM:614879
Muenke Syndrome	Ptosis, Capitate-hamate fusion, Sensorineural hearing impairment, Dental malocclusion, Brachyceph...	OMIM:602849
Ptosis-Vocal Cord Paralysis Syndrome	Severe short stature, Ptosis	ORPHA:2997
Ruvalcaba Syndrome	Ptosis, Dental crowding, Cryptorchidism, Delayed puberty, Hypopigmented skin patches, Abnormal lo...	ORPHA:3121
Autosomal Dominant Omodysplasia	Bifid scrotum, Frontal bossing, Hypoplasia of penis, Depressed nasal bridge, Rhizomelia, Microgna...	ORPHA:93328
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Leukopenia, Conjunctivitis, Atrial septal defect, Patent foramen ovale, Pate...	ORPHA:505248
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia, Hyperactivity, Premature ovarian insufficiency, Short stature, Abnormality of the de...	ORPHA:391307
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Anosmia, Decreased circulating luteinizing hormone level, Hypoplas...	OMIM:614842
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased muscle mass, H...	ORPHA:298
Fountain Syndrome	Craniofacial hyperostosis, Round face, Coarse facial features, Coarse metaphyseal trabecularizati...	ORPHA:3219
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Osteopenia, Frontal bossing, Severe short stature, Posteriorly rotated ears, Decreased response t...	OMIM:618336
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Skeletal muscle atrophy, Peripheral axonal neuropathy, Sensorineural hearing impairment, Rhabdomy...	OMIM:617070
Joubert Syndrome 1	Renal cyst, Retinal dysplasia, Chorioretinal coloboma, Nephropathy, Self-mutilation, Hyperactivit...	OMIM:213300
Cdags Syndrome	Frontal bossing, Sparse scalp hair, Ectropion, Hypospadias, Sparse eyelashes, Sagittal craniosyno...	OMIM:603116
Cockayne Syndrome Type 1	Mandibular prognathia, Absent brainstem auditory responses, Widely spaced primary teeth, Conjunct...	ORPHA:90321
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:613874
Autosomal Recessive Omodysplasia	Frontal bossing, Posteriorly rotated ears, Anteverted nares, Craniosynostosis, Micrognathia, Depr...	ORPHA:93329
Ataxia-Telangiectasia	Skeletal muscle atrophy, Hypopigmentation of hair, Diabetes mellitus, Short stature, Polycystic o...	ORPHA:100
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Increased CSF lac...	OMIM:615418
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Centrally nucleated skeletal muscle fibers...	OMIM:300219
5Q14.3 Microdeletion Syndrome	Ventriculomegaly, Thick eyebrow, Anteverted nares, Optic nerve hypoplasia, Upslanted palpebral fi...	ORPHA:228384
Macrocephaly/Autism Syndrome	Joint laxity, Frontal bossing, Hepatomegaly, Epicanthus, Depressed nasal bridge, Penile freckling...	OMIM:605309
Nicolaides-Baraitser Syndrome	Dry hair, Short lingual frenulum, High, narrow palate, Low anterior hairline, Widely spaced teeth...	OMIM:601358
Bartsocas-Papas Syndrome	Median cleft lip, Alopecia totalis, Renal hypoplasia/aplasia, Micrognathia, Narrow mouth, Underde...	ORPHA:1234
Witteveen-Kolk Syndrome	Narrow face, Glue ear, Decreased response to growth hormone stimulation test, Uplifted earlobe, C...	OMIM:613406
Harrod Syndrome	Multicystic kidney dysplasia, Narrow face, Hypospadias, Long nose, Cryptorchidism, Dental maloccl...	ORPHA:2115
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Long nose, Partial agenesis of the corpus callosum, Synophrys, High palate, Patent foramen ovale,...	OMIM:620113
X-Linked Intellectual Disability, Nascimento Type	Abnormal hair whorl, Deep philtrum, Synophrys, Downturned corners of mouth, Compulsive behaviors,...	ORPHA:163956
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Wide nose, Severe short stature, Hypospadias, Highly arched eyebrow,...	ORPHA:2319
Baker-Gordon Syndrome	Joint laxity, Thin upper lip vermilion, Epicanthus, Self-injurious behavior, Prominent nasal tip,...	OMIM:618218
Proteus Syndrome	Decreased muscle mass, Central heterochromia, Neoplasm of the thymus, Renal cyst, Abnormality of ...	ORPHA:744
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Long face, Narrow face, Ptosis, Short stature, Cleft upper lip, Brachyceph...	OMIM:268850
Holoprosencephaly 14	Alobar holoprosencephaly, Aqueductal stenosis, Partial agenesis of the corpus callosum, Aortic va...	OMIM:619895
Pontocerebellar Hypoplasia, Type 11	Skeletal muscle atrophy, Short stature, Abnormal repetitive mannerisms, Bulbous nose, Self-injuri...	OMIM:617695
Chromosome 15Q11-Q13 Duplication Syndrome	Inflexible adherence to routines, Restrictive behavior, Abnormal repetitive mannerisms, Increased...	OMIM:608636
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Decreased muscle mass, Epicanthus, Short stature, Limited wr...	OMIM:108145
Congenital Disorder Of Glycosylation, Type Ig	Thin upper lip vermilion, Wide nose, Small scrotum, Abnormal pinna morphology, Hypospadias, Rhizo...	OMIM:607143
Kleeblattschaedel	Hydrocephalus, Cloverleaf skull, Elbow ankylosis, Craniosynostosis	OMIM:148800
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Synophrys, Hypopigmentation of the skin, Abnormal repetitive mannerisms, Hepatomegaly, Depressed ...	OMIM:301066
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Thin upper lip vermilion, Round face, Skeletal muscle atrophy, Unilateral cryptorchidism, Short s...	OMIM:618862
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Coarse facial features, Depressed nasal bridge, Prominent nasal bridge, Pr...	ORPHA:324410
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Coarse facial features, Hyperactivity, Joint stiffness, Heparan sulfate excretion i...	OMIM:252920
Craniolenticulosutural Dysplasia	Osteopenia, Brittle hair, Coarse hair, High palate, Sparse hair, Bifid uvula, Joint laxity, Antev...	OMIM:607812
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Myelofibrosis, High palate, Sparse hair, Atrial septal defect, Joint laxity, Hyperactivity, Short...	OMIM:607721
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Hemifacial h...	ORPHA:536471
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch...	ORPHA:753
Leber Congenital Amaurosis 10	Hyposmia	OMIM:611755
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	Facial palsy, Sensorineural hearing impairment, Ragged-red muscle fibers, EMG: myopathic abnormal...	OMIM:609283
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Round face, Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Abnormal prep...	ORPHA:293725
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Ptosis, Turricephaly, Torticollis, Anteverted nares, Depressed nasal bridge, Telecanthus, Microgn...	OMIM:620224
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Sensorineural hearing impairment, Optic atrophy, Bilateral cleft lip and pala...	ORPHA:1473
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Abnormal pinna morphology, Choanal atresia, Prominent nasal bridge, Short stature, Ventricular se...	ORPHA:52055
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ...	OMIM:611134
Hydrolethalus Syndrome 1	Micrognathia, Severe hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Acces...	OMIM:236680
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Micrognathia, Synophrys, Low anterior hairline, Renal cyst, Anteriorly placed anus, Dandy-Walker ...	ORPHA:495875
Lathosterolosis	Hypoplasia of penis, Micrognathia, Downturned corners of mouth, High palate, Biparietal narrowing...	ORPHA:46059
Wieacker-Wolff Syndrome	Anteverted nares, Facial palsy, Short stature, Micrognathia, High anterior hairline, Congenital f...	OMIM:314580
Chromosome 1P35 Deletion Syndrome	Long face, Thin upper lip vermilion, Posteriorly rotated ears, Short stature, Micrognathia, Almon...	OMIM:617930
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin con...	ORPHA:100924
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Macular coloboma, Renal magnesium wasting, Rod-cone dystrophy...	OMIM:248190
Craniosynostosis 3	Sagittal craniosynostosis, Partial agenesis of the corpus callosum, Dental malocclusion, Low ante...	OMIM:615314
Duane Retraction Syndrome	Skeletal muscle atrophy, Central heterochromia, Optic disc hypoplasia, Ectopic kidney, Micrognath...	ORPHA:233
Meier-Gorlin Syndrome 6	Decreased response to growth hormone stimulation test, Depressed nasal ridge, Simplified gyral pa...	OMIM:616835
Congenital Myopathy 22A, Classic	Dental crowding, Micrognathia, Synophrys, Ragged-red muscle fibers, High palate, Generalized amyo...	OMIM:620351
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Tented upper lip vermilion, Epicanthus, Periventricular heterotopia, Increased ...	OMIM:618476
X-Linked Intellectual Disability, Cantagrel Type	Tented upper lip vermilion, Short philtrum, Shawl scrotum, Short nose, Abnormal repetitive manner...	ORPHA:85277
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Short stature, Ventricular septal defect, Splenomegaly, Hydrocephalus, Chronic kidn...	OMIM:615630
Edinburgh Malformation Syndrome	U-Shaped upper lip vermilion, Hydrocephalus, Frontal hirsutism	OMIM:129850
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Anal atresia, Tetralogy of Fallot, Abnormal pal...	ORPHA:1381
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Bicuspid aortic valve, Coloboma, Compulsive behaviors, Otitis media, Vesicourete...	ORPHA:353281
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Premature ovarian insufficiency, Diabetes mellitus, Abnormality of the thyroid gland, Ragged-red ...	OMIM:609286
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Epispadias, Cl...	ORPHA:2554
Tarp Syndrome	Extramedullary hematopoiesis, Micrognathia, Glossoptosis, Atrial septal defect, Small earlobe, Lo...	ORPHA:2886
De Barsy Syndrome	Osteopenia, Decreased muscle mass, Generalized joint laxity, Brachycephaly, High palate, Sparse h...	ORPHA:2962
Meier-Gorlin Syndrome 3	Small scrotum, Micrognathia, Hypoplasia of the maxilla, Micropenis, Microretrognathia, Absent ste...	OMIM:613803
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Pachygyria, Optic atrophy, Short stature	OMIM:618174
Hyperparathyroidism, Transient Neonatal	Osteopenia, Frontal bossing, Hyperparathyroidism, Communicating hydrocephalus, Anteverted nares, ...	OMIM:618188
Intellectual Developmental Disorder, Autosomal Dominant 53	Epicanthus, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Brachycephaly, Wid...	OMIM:617798
Velocardiofacial Syndrome	Hypoparathyroidism, Short stature, Ventricular septal defect, Blepharophimosis, Underdeveloped na...	OMIM:192430
Masa Syndrome	Hydrocephalus, Short stature, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Rabin-Pappas Syndrome	Mandibular prognathia, Retinal detachment, Optic nerve hypoplasia, Tracheomalacia, Micrognathia, ...	OMIM:620155
Angelman Syndrome	Mandibular prognathia, Flat occiput, Widely spaced teeth, Abnormal facial shape, Hypopigmentation...	ORPHA:72
Wt Limb-Blood Syndrome	Pancytopenia, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Radioulnar synostos...	OMIM:194350
Oculocerebral Hypopigmentation Syndrome, Cross Type	Microdontia, Dandy-Walker malformation, Iris hypopigmentation, Ureteral stenosis, Anteverted nare...	ORPHA:2719
Ververi-Brady Syndrome	Thin upper lip vermilion, Wide nose, Short stature, Prominent nose, Broad nasal tip, Bulbous nose...	OMIM:617982
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat...	OMIM:209885
Dilated Cardiomyopathy With Ataxia	Hypoplasia of penis, Diaphragmatic eventration, Bilateral cryptorchidism, Repetitive compulsive b...	ORPHA:66634
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Short stature, Bilateral cryptorchidis...	ORPHA:3042
Intellectual Developmental Disorder, Autosomal Dominant 47	Joint laxity, Ventricular septal defect, Prominent nasal bridge, Supernumerary nipple, Cryptorchi...	OMIM:617635
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Hyperactivity, Epicanthus, Depressed nasal bridge, Aggressive behavior, Cryptorchidism, Sensorine...	OMIM:615824
Pseudovaginal Perineoscrotal Hypospadias	Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Abnormal hair morphology, Per...	OMIM:264600
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Round face, Severe short stature, Micrognathia, Hydrocephalus, Limitation of joint...	OMIM:224400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Flexion contracture, Holoprosencephaly, Retinal dysplasia, Atrial septal...	OMIM:253800
Meier-Gorlin Syndrome 7	Urethral stricture, Anteriorly placed anus, Copper beaten skull, High palate, Vesicoureteral refl...	OMIM:617063
Donohue Syndrome	Skeletal muscle atrophy, Hypermelanotic macule, Precocious puberty, Postnatal growth retardation,...	OMIM:246200
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Bifid scrotum, Small scrotum, Flexion contracture of the 2nd finger, Widely spaced teeth, Joint c...	ORPHA:324540
Craniofacioskeletal Syndrome	Micrognathia, Short philtrum, Atrial septal defect, Absent gallbladder, Hypospadias, Short statur...	OMIM:300712
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, Prominent nose, Cardiomegaly, High, narrow palate, Pineal cyst, Widely spaced te...	OMIM:300967
Foxg1 Syndrome	Short stature, Optic disc hypoplasia, Severe postnatal growth retardation, Agenesis of corpus cal...	ORPHA:561854
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Congenital diaphragmatic hernia, Micrognathia, Large fleshy ears, High pala...	OMIM:614080
Faundes-Banka Syndrome	Premature thelarche, Micrognathia, Hypoplastic toenails, Long ear, Conductive hearing impairment,...	OMIM:619376
Ruvalcaba Syndrome	Dental crowding, Short stature, Retinal dystrophy, Underdeveloped nasal alae, Cryptorchidism, Dow...	OMIM:180870
Tetrasomy 5P	Coarse facial features, Epicanthus, Posteriorly rotated ears, Anteverted nares, Micrognathia, Pos...	ORPHA:3309
Faciodigitogenital Syndrome, Autosomal Recessive	Deep philtrum, Brachycephaly, High palate, Vertebral fusion, Anteverted nares, Cryptorchidism, Mi...	OMIM:227330
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Renal cyst, Atrial septal defect, Posteri...	OMIM:312870
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Unilateral ptosis, Dental crowding, Congenital diaphragmatic hernia, Synophrys, Low anterior hair...	OMIM:301044
Toriello-Lacassie-Droste Syndrome	Epispadias, Abnormality of the ear, Eyelid coloboma, Limbal dermoid, Abnormal facial shape, Agene...	ORPHA:3339
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney, Micrognathia, Hypopla...	ORPHA:268249
Cardiomyopathy, Dilated, 1V	Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:613697
Oculoauriculovertebral Spectrum With Radial Defects	Short stature, Distal urethral duplication, Abnormality of the middle ear ossicles, Renal hypopla...	ORPHA:2549
Bohring-Opitz Syndrome	Micrognathia, Cardiomegaly, Synophrys, Coloboma, Congenital contracture, Agenesis of corpus callo...	ORPHA:97297
Congenital Myopathy 4A, Autosomal Dominant	Ptosis, Narrow face, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fi...	OMIM:255310
Carpenter Syndrome 2	Bilateral cryptorchidism, High, narrow palate, Ectropion of lower eyelids, Low anterior hairline,...	OMIM:614976
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Optic atrophy, Increased CSF lactate, Colpocephaly, Hyperlysinuria, Increased CSF ...	OMIM:616034
Mitochondrial Complex I Deficiency, Nuclear Type 16	Optic atrophy, Increased CSF lactate, Aplasia of the left hemidiaphragm, Adrenal insufficiency, I...	OMIM:618238
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Multiple joint contractures, Posteriorly rotated ears, Camptodactyly of fi...	ORPHA:994
Cole-Carpenter Syndrome 2	Microretrognathia, Frontal bossing, Turricephaly, Osteopenia, Short stature, Recurrent fractures,...	OMIM:616294
Osteoglosphonic Dysplasia	Severe short stature, Anteverted nares, Choanal atresia, Craniosynostosis, Micrognathia, Rhizomel...	ORPHA:2645
Frontorhiny	Encephalocele, Low-set, posteriorly rotated ears, Epicanthus, Diabetes insipidus, Camptodactyly o...	ORPHA:391474
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome	Ptosis, Anteverted nares, Anterior creases of earlobe, High palate, Low-set ears, Long philtrum, ...	ORPHA:3038
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Ketonuria, Dic...	OMIM:619355
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Micrognathia, Protruding ear, High palate, Atrial septal defect, Abnormal dental pulp ...	ORPHA:363700
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Ptosis, Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Cardiomyopathy, Micro...	OMIM:212112
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hypoplasia of the musculature, Micrognathia, Hydrocephalus, Cleft palate, Ptery...	OMIM:225790
Noonan Syndrome 9	Curly hair, Hydroureter, Ventricular septal defect, Short stature, Sparse eyebrow, Cryptorchidism...	OMIM:616559
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Micrognathia, Prominent nose, Long nose, Atrial septal defect, Atrioventricul...	ORPHA:3047
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Septate vagina, Sensorineural hearing impairment, Chronic kidney...	OMIM:146255
Bor Syndrome	Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Abnormality of t...	ORPHA:107
Proximal 16P11.2 Microdeletion Syndrome	Atrial septal defect, Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Micrognathia,...	ORPHA:261197
Elsahy-Waters Syndrome	Bifid scrotum, Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synoph...	OMIM:211380
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Nephrocalcinosis, Clitoral hypoplasia,...	OMIM:268310
Neurofibromatosis-Noonan Syndrome	Secundum atrial septal defect, Inguinal freckling, Depressed nasal bridge, Short stature, Cryptor...	OMIM:601321
Cutis Laxa, Autosomal Recessive, Type Iiia	Frontal bossing, Short stature, Narrow nasal ridge, Cryptorchidism, Brachycephaly, Distal amyotro...	OMIM:219150
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Joint laxity, Ventricular septal defect, Aggressive behavior, Cryptorchidism, Protruding ear, Sho...	OMIM:301039
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Short stature, Prominent nasal bridge, Highly arched eyebrow, Carious teeth, Thick lower lip verm...	ORPHA:457365
Senior-Boichis Syndrome	Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise...	ORPHA:84081
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Widel...	ORPHA:268261
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Hypoplastic toenails, Synoph...	ORPHA:444077
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Type II lissencephaly, Hydrocephalus, Retinal dysplasia, Muscular dystrophy, Ventriculomegaly	OMIM:614830
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Weaver Syndrome	Mandibular prognathia, Flat occiput, Sparse hair, Deep-set nails, Depressed nasal bridge, Thin na...	OMIM:277590
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsal synostosis, Short...	ORPHA:2473
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Micrognathia, Low anterior hairline, High palate, Wrist flexion contract...	ORPHA:800
Hartsfield Syndrome	Wide nose, Median cleft lip, Posteriorly rotated ears, Hypospadias, Craniosynostosis, Cleft upper...	OMIM:615465
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Synophrys, Short philtrum, Joint contracture of the 5th finger, Microdontia, Atrial s...	ORPHA:363611
Ataxia-Telangiectasia	Conjunctival telangiectasia, Sinusitis, Female hypogonadism, Diabetes mellitus, Short stature, Ab...	OMIM:208900
Aase-Smith Syndrome I	Abnormal pinna morphology, Ventricular septal defect, Hydrocephalus, Flexion contracture, Cleft p...	OMIM:147800
Trichothiodystrophy 3, Photosensitive	Natal tooth, Lymphopenia, Brittle hair, Short stature, Ectropion, Trigonocephaly, Carious teeth, ...	OMIM:616395
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis...	ORPHA:98897
Fabry Disease	Renal insufficiency, Proteinuria, Ventricular septal hypertrophy, Urinary mulberry cells, Anemia,...	OMIM:301500
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridg...	ORPHA:2180
Obesity And Hypopigmentation	Red hair	OMIM:620195
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Ptosis, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Cardiome...	ORPHA:365
3-Methylglutaconic Aciduria, Type Iv	Biventricular hypertrophy, Cryptorchidism, 3-Methylglutaric aciduria, Subvalvular aortic stenosis	OMIM:250951
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Synophrys, Brachycephaly, Downturned corners of mouth, Coarse hair, High palate,...	OMIM:618268
Ring Chromosome 13 Syndrome	Bifid scrotum, Micrognathia, Abnormality of skin pigmentation, High palate, Short philtrum, Abnor...	ORPHA:96176
Pontocerebellar Hypoplasia, Type 16	Skeletal muscle atrophy, Recurrent urinary tract infections, Ptosis, Prominent nose, Optic atroph...	OMIM:619527
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Protruding tongue, Po...	OMIM:300963
Mowat-Wilson Syndrome	Bifid scrotum, Uplifted earlobe, Widely spaced teeth, Chorioretinal coloboma, Atrial septal defec...	OMIM:235730
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Mosaic Variegated Aneuploidy Syndrome	Micrognathia, Depressed nasal ridge, Abnormality of skin pigmentation, Holoprosencephaly, Atrial ...	ORPHA:1052
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Long face, Joint laxity, Patent du...	ORPHA:284984
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Increased CSF protein concentration, Skeletal muscle atrophy, Facial palsy, Bilateral ptosis, Sen...	OMIM:258450
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Depressed nasal bridge, Short stature, Ventricular septal defect, High, narrow palate, Sensorineu...	OMIM:619575
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Frontal bossing, Self-injurious behavior, Abnormal repetitive mannerisms, Midface retrusion	OMIM:617820
Distal Deletion 9P	Low-set, posteriorly rotated ears, Epicanthus, Hypospadias, Abnormality of the dentition, High, n...	ORPHA:1642
Optic Atrophy-Intellectual Disability Syndrome	Epicanthus, Anteverted nares, Optic nerve hypoplasia, Prominent nasal bridge, Short stature, Opti...	ORPHA:401777
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Decreased respon...	OMIM:619503
Floating-Harbor Syndrome	Prominent nose, Glandular hypospadias, Downturned corners of mouth, Nephrocalcinosis, Short philt...	OMIM:136140
Tenorio Syndrome	Mandibular prognathia, Osteopenia, Joint laxity, Wide nose, Anteverted nares, Thick eyebrow, Tele...	OMIM:616260
Leprosy	Skeletal muscle atrophy, Absent eyebrow, Alopecia, Epistaxis, Abnormality of the spleen, Abnormal...	ORPHA:548
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Frontal bossing, Odontogenic keratocysts of the jaw, Ovarian fibroma, Coar...	OMIM:109400
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Flat occiput, Micrognathia, Prominent nose, High palate, Pachygyria,...	OMIM:251300
Multiple Sulfatase Deficiency	Hepatomegaly, Coarse facial features, Anteverted nares, Short stature, Splenomegaly, Hydrocephalu...	OMIM:272200
Ophthalmoplegia, External, And Myopia	Ptosis, Retinal degeneration, Spina bifida, Chorioretinal degeneration	OMIM:311000
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Cranial hyperostosis, Renal hypoplasia, Spinal dysraphism, Nephroblastoma, Facial a...	OMIM:612918
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Osteopenia, Decreased response to growth hormone stimulation test, Microgn...	OMIM:616007
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Abnormality of taste sensation, Restlessness, Sinusitis, Stiff neck, Facial ...	ORPHA:68
Intellectual Developmental Disorder, X-Linked 12	Joint laxity, Short stature, Cryptorchidism, Sensorineural hearing impairment, Abnormality of neu...	OMIM:300957
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnormality of the parath...	ORPHA:3429
Hypotonia-Cystinuria Syndrome	Frontal bossing, Epicanthus, Nephrolithiasis, Cystinuria, Growth delay, Dolichocephaly, Retrognat...	ORPHA:163690
Qazi-Markouizos Syndrome	Torticollis, Prominent nasal bridge, Cryptorchidism, High, narrow palate, Hypoplasia of teeth, De...	ORPHA:3010
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Renal cyst, Anteriorly placed anus, Short philtrum, Hig...	ORPHA:798
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Hand muscle atrophy, Decreased size of nerve terminals, Intrinsic hand muscle atrophy, Upper limb...	OMIM:601462
Okur-Chung Neurodevelopmental Syndrome	Micrognathia, Synophrys, Simplified gyral pattern, High palate, Pachygyria, Anteverted nares, Hig...	OMIM:617062
Blepharophimosis, Ptosis, And Epicanthus Inversus	Ptosis, Telecanthus, Premature ovarian insufficiency, Depressed nasal bridge, Female infertility,...	OMIM:110100
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect, Proportionate short stature, Cleft upper lip, Cupped ear, Cleft palate...	OMIM:609654
Ring Chromosome 12 Syndrome	Secundum atrial septal defect, High, narrow palate, Cryptorchidism, Glandular hypospadias, Growth...	ORPHA:1439
Crane-Heise Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Abnormally ossified vertebrae, Anteverted...	ORPHA:1512
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,...	OMIM:618823
Trismus-Pseudocamptodactyly Syndrome	Mandibular prognathia, Limitation of joint mobility, Short stature, Ptosis	ORPHA:3377
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Hypoplastic toenails, Eruption fail...	OMIM:166250
Hyperprolinemia, Type I	Hyperactivity, Aggressive behavior, Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Abnormal repe...	OMIM:239500
Cat Eye Syndrome	Micrognathia, Chorioretinal coloboma, Atrial septal defect, Vesicoureteral reflux, Iris coloboma,...	OMIM:115470
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Attached earlobe, Deep philtrum, Knee flexion contracture, Microdontia, Agenesis of corpus callos...	OMIM:619194
Diabetes And Deafness, Maternally Inherited	Abnormal vestibular function, Sensorineural hearing impairment, Vertigo, Cardiomyopathy, Pigmenta...	OMIM:520000
Transketolase Deficiency	Increased level of ribose in urine, Atrial septal defect, Hepatomegaly, Ventricular septal defect...	ORPHA:488618
Carpenter Syndrome	Turricephaly, Cloverleaf skull, External genital hypoplasia, Craniosynostosis, Abnormal reproduct...	ORPHA:65759
Joubert Syndrome 35	Multicystic kidney dysplasia, Recurrent urinary tract infections, Anteverted nares, Depressed nas...	OMIM:618161
Intellectual Developmental Disorder, Autosomal Dominant 34	Curly hair, Epicanthus, Anteverted nares, Bilateral ptosis, Synophrys, Upslanted palpebral fissur...	OMIM:616351
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Pancytopenia, Alopecia, Aplastic anemia, Short stature, Reticulated skin pigm...	OMIM:613990
Biemond Syndrome Ii	Abnormality of the endocrine system, Hydrocephalus, Short stature, Iris coloboma	OMIM:210350
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Short stature, Rhizomelia, Micrognathia, Cryptorchidism, Delayed ossification of pubic rami, High...	OMIM:602471
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Micrognathia, Hepatomegaly, Square face, Increased bone mineral den...	OMIM:259720
Den Hoed-De Boer-Voisin Syndrome	Brachycephaly, Widely spaced teeth, Abnormal repetitive mannerisms, Amelogenesis imperfecta, Ster...	OMIM:619229
Pitt-Hopkins Syndrome	Short philtrum, Thickened helices, Micropenis, Anteverted nares, Hiatus hernia, Cryptorchidism, T...	ORPHA:2896
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Micrognathia, High, narrow palate, High palate, Atrial septal d...	OMIM:163950
Microphthalmia, Syndromic 13	Ptosis, Short stature, Anteverted ears, Chorioretinal coloboma, Iris coloboma, Widely-spaced inci...	OMIM:300915
Phocomelia, Schinzel Type	Hypoplasia of penis, Micrognathia, High, narrow palate, Cryptorchidism, Meningocele, Humeroradial...	ORPHA:2879
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Micrognathia, Brachycephaly, Downturned corners of mouth, Aminoaciduria, S...	ORPHA:85276
Oculodentodigital Dysplasia	Mandibular prognathia, Brittle hair, Micrognathia, Abnormality of the ear, Conductive hearing imp...	ORPHA:2710
Autosomal Dominant Optic Atrophy, Classic Form	Skeletal muscle atrophy, Macrocytic anemia, Diabetes mellitus, Scapular winging, Morning glory an...	ORPHA:98673
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Bilateral ptosis, Cardiomyopathy, Pigmentary retinopathy, High palate, D...	ORPHA:329336
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia...	ORPHA:373
Intellectual Developmental Disorder, X-Linked 93	Frontal bossing, Cryptorchidism, Cupped ear, Macrotia, Long face	OMIM:300659
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, Fragile nails, Hig...	OMIM:218040
Acrocardiofacial Syndrome	Hypoplasia of penis, Hyperthyroidism, Hypospadias, Camptodactyly of finger, Mitral stenosis, Clef...	ORPHA:2008
Alexander Disease	Large face, Frontal bossing, Osteopenia, Diabetes mellitus, Facial palsy, Precocious puberty, Hyp...	ORPHA:58
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Atrial septal defect, Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Ventricul...	OMIM:614749
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary inciso...	ORPHA:2063
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Posteriorly rotated ears, Narrow nasal ridge, Underdeveloped nasal alae, Pyloric sten...	OMIM:614438
Autosomal Dominant Popliteal Pterygium Syndrome	Bifid scrotum, Thin upper lip vermilion, Small scrotum, Choanal atresia, Lip pit, Micrognathia, J...	ORPHA:1300
Warsaw Breakage Syndrome	Epicanthus, Ventricular septal defect, Hypermelanotic macule, Postnatal growth retardation, Hypop...	OMIM:613398
Mitochondrial Dna Depletion Syndrome 11	Hypergonadotropic hypogonadism, Facial palsy, Dilated cardiomyopathy, Ragged-red muscle fibers, P...	OMIM:615084
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Stt3B-Cdg	Small scrotum, Cryptorchidism, Optic atrophy, Intrauterine growth retardation, Micropenis, Thromb...	ORPHA:370924
Hemochromatosis, Type 1	Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomeg...	OMIM:235200
Bifid Nose With Or Without Anorectal And Renal Anomalies	Short lingual frenulum, Posteriorly rotated ears, Renal agenesis, Unilateral renal agenesis, Prec...	OMIM:608980
Myasthenic Syndrome, Congenital, 23, Presynaptic	Calf muscle hypertrophy, Agenesis of corpus callosum, Ptosis	OMIM:618197
Congenital Disorder Of Glycosylation, Type Ix	Small scrotum, Cryptorchidism, Optic atrophy, Intrauterine growth retardation, Micropenis, Thromb...	OMIM:615597
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Anteverted ears, Protruding ear, Atrial septal defect, Abnormal facial sha...	ORPHA:459070
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Endocardial fibrosis, Left ventricular hypertrophy, Restrictive cardiomy...	OMIM:608751
Coffin-Siris Syndrome 4	Short philtrum, Atrial septal defect, Thick nasal alae, Agenesis of corpus callosum, Dandy-Walker...	OMIM:614609
Cardiomyopathy, Familial Hypertrophic, 14	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:613251
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Premature graying of hair, Per...	ORPHA:1775
Lathosterolosis	Bilobate gallbladder, Micrognathia, High palate, Ambiguous genitalia, male, Conductive hearing im...	OMIM:607330
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Anemia, Perimembranous ...	OMIM:608104
Cardiomyopathy, Familial Hypertrophic, 16	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy	OMIM:613838
Intellectual Developmental Disorder, Autosomal Recessive 58	Short stature, Aggressive behavior, Pica, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617270
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Frontal bossing, Mixed hearing impairment, Broad lateral eyebrow, Anteverted nares, Depressed nas...	OMIM:608624
Meier-Gorlin Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Flexion contracture, High palate, Microdontia, Micropeni...	OMIM:224690
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto...	ORPHA:137888
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Frontal bossing, Hyperactivity, Downturned corners of mouth, Self-injurious behavior, Low-set ear...	OMIM:618718
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Frontometaphyseal Dysplasia 2	Decreased muscle mass, Bicuspid aortic valve, Elbow contracture, Deep philtrum, Low anterior hair...	OMIM:617137
Immunodeficiency 9	Myopathy, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Amelogenesis imper...	OMIM:612782
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Narrow nasal bridge, Narrow face, Flat occiput, Severe short stature, Ptos...	ORPHA:2511
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Aggressive behavior, Inappropriate laughter, Bruxism, Abnormal repetitive mannerisms, Ventriculom...	OMIM:619150
Myasthenic Syndrome, Congenital, 12	Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy, Retinoschisis, Ptosis	OMIM:610542
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hor...	OMIM:614839
Developmental And Epileptic Encephalopathy 95	Joint laxity, Hepatomegaly, Coarse facial features, Multiple joint contractures, Posteriorly rota...	OMIM:618143
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Supernumerary nipple, Aggressive behavior, Synophrys, Brachycephaly, Wide mouth, Upslanted palpeb...	OMIM:616083
Lumbar Syndrome	Bifid scrotum, Hypospadias, Renal agenesis, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeni...	ORPHA:83628
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Small scrotum, Wide nose, Micrognathia, Hydroceph...	OMIM:617667
Frontal Encephalocele	Encephalocele, Spina bifida, Hydrocephalus, Dolichocephaly, Calvarial skull defect	ORPHA:1931
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Ventriculomeg...	OMIM:615287
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Pontocerebellar Hypoplasia Type 7	Skeletal muscle atrophy, Epicanthus, Depressed nasal bridge, Micrognathia, Abnormal scrotal rugat...	ORPHA:284339
Waardenburg Syndrome, Type 1	Mandibular prognathia, Synophrys, Orofacial cleft, Premature graying of hair, Heterochromia iridi...	OMIM:193500
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Micrognathia, Asplenia, Cryptorchidism, Cleft lip, Cleft palate, Protr...	OMIM:619123
Thanatophoric Dysplasia Type 1	Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Abnormality of the kidney, Joint stiff...	ORPHA:1860
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Aqueductal stenosis, Hypoplastic toenails, Dextrotransposition of the gre...	OMIM:306955
Mandibulofacial Dysostosis, Guion-Almeida Type	Micrognathia, Deep philtrum, Atrial septal defect, Conductive hearing impairment, Anteverted nare...	OMIM:610536
Xq28 (MECP2) duplication	Depressed nasal bridge, Functional abnormality of the bladder, Brachycephaly, Dysphagia, Narrow m...	DECIPHER:45
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Acrocallosal Syndrome	Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Sensorineural hearing impairment, P...	ORPHA:36
Cenani-Lenz Syndrome	High, narrow palate, Protruding ear, Short philtrum, Absent fingernail, Hypothyroidism, Synostosi...	ORPHA:3258
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Autoimmune thrombocytopenia, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstr...	OMIM:601389
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Frontal bossing, Vertebral fusion, Dental crowding, Aggressive ...	ORPHA:313892
Arthrogryposis, Distal, Type 2B3	Short stature, Narrow mouth, Camptodactyly, Downslanted palpebral fissures, Triangular face, Ptosis	OMIM:618436
Crouzon Syndrome With Acanthosis Nigricans	Choanal atresia, Craniosynostosis, Hydrocephalus, Brachycephaly, Melanocytic nevus, Midface retru...	OMIM:612247
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Diabetes mellitus, Dental crowding, Micrognathia, Cryptorchidism, Sensorineural hea...	OMIM:615381
Juberg-Hayward Syndrome	Short stature, Decreased response to growth hormone stimulation test, Highly arched eyebrow, Clef...	OMIM:216100
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Hypoplastic toenails, Synophrys, Widely spaced teeth, Patent foramen ovale, Hypospadias, Antevert...	ORPHA:477993
Neurofibromatosis Type 1	Abnormal eyelid morphology, Pheochromocytoma, Chorioretinal coloboma, Heterochromia iridis, Spina...	ORPHA:636
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Frontal bossing, Skeletal muscle atrophy, Ventricular septal defect, Hydrocephalus, Knee flexion ...	OMIM:603387
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Exaggerated cupid's bow, Cryptorchidism, Wide nasal bridge, High palate, Lissencephaly, Pachygyri...	OMIM:620316
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Hypomimic face	ORPHA:93952
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Joint stiffness, Optic atrophy, Congenital finger flexion contractures, Macrotia, Triangular face...	ORPHA:1154
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number, Hypergonadotropic hypogonadism, Ragged-red muscle fibers, Dilated...	ORPHA:352447
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Generalized joint laxity, Brachycephaly, Protruding ear, High palate, Atrial septal defect, Abnor...	OMIM:601776
Intellectual Developmental Disorder, Autosomal Dominant 57	Contracture of the proximal interphalangeal joint of the 4th finger, High palate, Compulsive beha...	OMIM:618050
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Rhabdomyolysis, Cardiomyopathy, Skeletal myopathy, Pigmentary retinopathy, Le...	ORPHA:746
N Syndrome	Cryptorchidism, Leukemia, Hypospadias, Hearing impairment	OMIM:310465
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Cardiomegaly, Synophrys, Abnormal thymus morphology, High palate, Abnormal bone ossif...	ORPHA:2463
B4Galt1-Cdg	Thin upper lip vermilion, Hepatomegaly, Splenomegaly, Hydrocephalus, Wide nasal bridge, Low-set e...	ORPHA:79332
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Anteverted nares, Depressed nasal bridge, Flexion contracture, Opt...	OMIM:617301
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cryptorchidism, Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, St...	OMIM:618917
Cardiac-Urogenital Syndrome	Bifid scrotum, Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar an...	OMIM:618280
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Thin upper lip vermilion, Frontal bossing, Anteverted nares, Short stature, Supernumerary nipple,...	OMIM:616728
Goldberg-Shprintzen Syndrome	Hypoplasia of the maxilla, Synophrys, Oligodontia, Short philtrum, Vesicoureteral reflux, Sparse ...	OMIM:609460
N-Acetylaspartate Deficiency	Abnormal repetitive mannerisms, Short stature, Self-mutilation	OMIM:614063
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Depressed nasal bridge, Choanal atresia, Short stature, Bilateral cryptorchidis...	OMIM:619859
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Microretrognathia, Flat occiput, Hypospadias, Anteverted nares, Cryptorchidism, Wide nasal bridge...	OMIM:614052
Marshall Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Brachycephaly, High palate, Sparse hair,...	ORPHA:560
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Retinopathy	ORPHA:26
Peripartum Cardiomyopathy	Diabetes mellitus, Abnormality of thyroid physiology, Left atrial enlargement, Myocarditis, Dilat...	ORPHA:563
Codas Syndrome	Delayed eruption of teeth, Atrial septal defect, Ventriculomegaly, Anteverted nares, Depressed na...	OMIM:600373
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Lateral ventricular asymmetry, Scapular winging, Promine...	OMIM:616914
Microphthalmia, Syndromic 3	Frontal bossing, Optic nerve aplasia, Vertebral fusion, Hypogonadotropic hypogonadism, Anterior p...	OMIM:206900
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Long nose, Renal cyst, Nephrocalcinosis, Oligodontia, Short philtrum, ...	ORPHA:2044
Agnathia-Otocephaly Complex	Wide nose, Tracheomalacia, Micrognathia, Secundum atrial septal defect, Situs inversus totalis, A...	OMIM:202650
Progressive Hemifacial Atrophy	Ptosis, Micrognathia, Abnormal mandible morphology, Irregular hyperpigmentation, Heterochromia ir...	ORPHA:1214
Pfeiffer Syndrome	Mandibular prognathia, Cloverleaf skull, Dental crowding, Depressed nasal bridge, Choanal atresia...	OMIM:101600
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Septate vagina, Unil...	ORPHA:2237
Deeah Syndrome	Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri...	OMIM:619004
Wilson Disease	Osteoarthritis, Aminoaciduria, Hypoparathyroidism, Hemolytic anemia, Hepatomegaly, Osteomalacia, ...	OMIM:277900
Fanconi Anemia, Complementation Group C	Ectopic kidney, Flexion contracture, Reticulocytopenia, Neutropenia, Short stature, Cryptorchidis...	OMIM:227645
Loeys-Dietz Syndrome 5	Decreased muscle mass, Tented upper lip vermilion, Osteoarthritis, Brachycephaly, High palate, At...	OMIM:615582
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Frontal bossing, Depressed nasal bridge, Hypermelanotic macule, Hydrocephalus, Optic atrophy, Wid...	ORPHA:60040
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Lymphadenopath...	ORPHA:2221
Contractures-Developmental Delay-Pierre Robin Syndrome	Hypospadias, Micrognathia, Underdeveloped nasal alae, High, narrow palate, Iris coloboma, Cleft p...	ORPHA:436003
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Narrow nasal bridge, Epicanthus, Abnormal dental enamel morphology, Blepharophimosis, Fine hair, ...	ORPHA:3236
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Epicanthus, Dental crowding, Urinary incontinence, Abnormality of the dentition, Micrognathia, Co...	ORPHA:476126
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A...	OMIM:619566
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Decreased size of nerve terminals, Type 2 muscle fiber atrophy, Myopathy, ...	OMIM:603034
Rhyns Syndrome	Osteopenia, Renal insufficiency, Short stature, Decreased response to growth hormone stimulation ...	OMIM:602152
C Syndrome	Congenital diaphragmatic hernia, Micrognathia, High palate, Biparietal narrowing, Abnormality of ...	ORPHA:1308
Catel-Manzke Syndrome	Micrognathia, Glossoptosis, High palate, Bifid uvula, Joint laxity, Overriding aorta, Cleft upper...	OMIM:616145
Heart-Hand Syndrome Type 2	Joint stiffness, Abnormality of the dentition, Cryptorchidism, Anterior creases of earlobe, Low p...	ORPHA:1350
Classic Galactosemia	Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i...	ORPHA:79239
Prolactinoma	Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Vertigo, Osteoporosis, Decreased fe...	ORPHA:2965
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Joint laxity, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Cryptorchi...	ORPHA:486815
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Ptosis, Abnormality of retinal pigmentation, Facial palsy, Furrowed tongue	ORPHA:2743
Cardiomyopathy, Familial Hypertrophic, 10	Vertigo, Ventricular septal hypertrophy, Asymmetric septal hypertrophy, Left ventricular hypertro...	OMIM:608758
Autism, Susceptibility To, X-Linked 6	Ptosis, Underdeveloped nasal alae, Short philtrum, Narrow mouth	OMIM:300872
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Skeletal muscle atrophy, Tented upper lip vermilion, Decreased response to...	ORPHA:488632
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Aggressive behavior, Dilated cardiomyopathy, Bilateral sensorineural hearing impair...	OMIM:618321
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Short philtrum, Decreased serum estradiol, Streak ovary, Premature ovarian insufficiency, Duplica...	ORPHA:572333
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Congenital muscular torticollis, Vaginal hernia, Macrodo...	ORPHA:2916
Superficial Siderosis	Enlarged sylvian cistern, Lower limb muscle weakness, Partial anosmia, Abnormal cerebrospinal flu...	ORPHA:247245
Intellectual Developmental Disorder, Autosomal Dominant 39	Aggressive behavior, Hydrocephalus, Wide nasal bridge, Wide mouth, Wide nasal base, Polyphagia, S...	OMIM:616521
Atrial Fibrillation, Familial, 10	Right ventricular dilatation, Left ventricular hypertrophy, Left atrial enlargement	OMIM:614022
Autosomal Dominant Spastic Ataxia Type 1	Abnormal cerebrospinal fluid morphology, Abnormal eyelid morphology, Leg muscle stiffness, Genera...	ORPHA:251282
Intellectual Developmental Disorder, Autosomal Dominant 56	Thin upper lip vermilion, Ptosis, Impulsivity, Sensorineural hearing impairment, Protruding ear, ...	OMIM:617854
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Atrial septal defect, Sparse ha...	OMIM:139210
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micrognathia, Hypoplastic toenails, High, narrow palate, Abnorma...	ORPHA:2753
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2	Absent nipple, Anteverted nares, Highly arched eyebrow, Broad nasal tip, Cryptorchidism, Widely s...	OMIM:616001
Pendred Syndrome	Hyperparathyroidism, Sensorineural hearing impairment, Hypoplasia of the cochlea, Abnormality of ...	ORPHA:705
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses...	OMIM:305620
Krabbe Disease	Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, I...	OMIM:245200
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, D...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, D...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, D...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, D...	ORPHA:93924
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Large fleshy ears, Upslanted palpebral fissure, Widely spaced teeth, Low-set ears, Overfolded hel...	OMIM:619092
Otopalatodigital Syndrome, Type Ii	Elbow contracture, Micrognathia, Conductive hearing impairment, Atrial septal defect, Hypospadias...	OMIM:304120
X-Linked Intellectual Disability, Pai Type	Epicanthus, Prominent nasal bridge, Cryptorchidism, Protruding ear, Hydrocele testis, Narrow mout...	ORPHA:85322
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Periventricular nodular...	OMIM:620065
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Pyruvate Dehydrogenase E1-Alpha Deficiency	Frontal bossing, Anteverted nares, Flared nostrils, Wide nasal bridge, Increased CSF lactate, Lon...	OMIM:312170
Pontocerebellar Hypoplasia, Type 10	Thin upper lip vermilion, Highly arched eyebrow, Underdeveloped nasal alae, Cryptorchidism, Bulbo...	OMIM:615803
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Tented upper lip vermilion, Facial hypotonia, Optic atrophy, Prominent antihelix, Upslanted palpe...	OMIM:617807
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, High palate, Microdontia, Renal neoplasm, ...	ORPHA:536467
Lig4 Syndrome	Pancytopenia, Epicanthus, Prominent nose, Cryptorchidism, Hypothyroidism, Low anterior hairline, ...	OMIM:606593
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Underdeveloped superior crus of antihelix, Micrognathia, High, narrow palate, Compulsive behavior...	ORPHA:369950
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Short stature, Abnormal retinal morphology, Albinism, Osteoporosis, Hyp...	ORPHA:2786
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, High palate, T...	OMIM:605637
Fanconi Anemia, Complementation Group P	Pancytopenia, Short stature, Micrognathia, Cryptorchidism, Bulbous nose, Horseshoe kidney, Growth...	OMIM:613951
Myopathy, Centronuclear, 2	Ptosis, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contr...	OMIM:255200
Non-Syndromic Posterior Hypospadias	Bifid scrotum, Congenital diaphragmatic hernia, Abnormality of the endocrine system, Esophageal a...	ORPHA:95706
Limb-Mammary Syndrome	Cleft hard palate, Protruding ear, Aplasia of the ovary, Bifid uvula, Alopecia, Chronic irritativ...	ORPHA:69085
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Anteverted nares, Micrognathia, Decreased calvarial o...	OMIM:619879
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Small scrotum, Increased density of long bones, Choanal stenosis...	OMIM:269150
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Absent lacrimal punctum, Telecanthus, Posteriorly rotated ears, Abnormal pinna...	ORPHA:228396
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Joint contracture, Abnormal repetitive mannerisms, Broad nasal tip	OMIM:617393
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Micrognathia, Flexion contracture, Anteverted nares, Acanthocytosis, Wide nasa...	OMIM:618947
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Knee flexion contracture, Vertebral fusion, Short stature, ...	OMIM:178110
Woodhouse-Sakati Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Prominent nose, Protruding ear...	ORPHA:3464
Cerebellofaciodental Syndrome	Short stature, Ventricular septal defect, Aggressive behavior, Sparse eyebrow, Cryptorchidism, De...	OMIM:616202
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy	Optic disc pallor, Round face, Craniosynostosis, Flexion contracture, Choroid plexus cyst, Long e...	OMIM:619076
Cole-Carpenter Syndrome 1	Osteopenia, Frontal bossing, Communicating hydrocephalus, Short stature, Recurrent fractures, Mic...	OMIM:112240
Indifference To Pain, Congenital, Autosomal Recessive	Urinary incontinence, Anosmia, Painless fractures due to injury, Abnormal autonomic nervous syste...	OMIM:243000
Omodysplasia 1	Micrognathia, Limited elbow flexion, Atrial septal defect, Depressed nasal bridge, Rhizomelia, Cr...	OMIM:258315
Amed Syndrome, Digenic	Acute myeloid leukemia, Telecanthus, Short stature, Hyperpigmentation of the skin, Adrenal hypopl...	OMIM:619151
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Urinary incontinence, Cent...	ORPHA:169189
Aicardi Syndrome	Partial agenesis of the corpus callosum, Protruding ear, Abnormality of skin pigmentation, Short ...	ORPHA:50
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Brachycephaly, Reduced bone mineral density, Glossoptosis, Spa...	ORPHA:2108
Proximal Myopathy With Extrapyramidal Signs	Ptosis, Peripheral axonal neuropathy, Centrally nucleated skeletal muscle fibers, Insulin-resista...	ORPHA:401768
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Frontal bossing, Epicanthus, Short stature, Micrognathia, Abnormal repetitive manneri...	ORPHA:2479
Pagod Syndrome	Encephalocele, Multicystic kidney dysplasia, Short stature, Spina bifida, Renal hypoplasia/aplasi...	ORPHA:991
Icf Syndrome	Communicating hydrocephalus, Epicanthus, Depressed nasal bridge, Short stature, Abnormality of ne...	ORPHA:2268
Dermoodontodysplasia	Mandibular prognathia, Sparse scalp hair, Abnormal eyelid morphology, Melanocytic nevus, Tooth ag...	ORPHA:1660
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li...	OMIM:119500
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Frontal bossing, Telecanthus, Anteverted nares, Depressed nasal brid...	ORPHA:1064
Aural Atresia, Congenital	Conductive hearing impairment, Hyposmia, Atresia of the external auditory canal	OMIM:607842
Meier-Gorlin Syndrome 5	Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Submucous cleft hard pala...	OMIM:613805
Mullegama-Klein-Martinez Syndrome	Congenital diaphragmatic hernia, Micrognathia, Prominent nose, Low anterior hairline, Short philt...	OMIM:301022
Aicardi Syndrome	Chorioretinal lacunae, Partial agenesis of the corpus callosum, Pachygyria, Dilated third ventric...	OMIM:304050
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Tics, Absent fingernail, Compulsive behaviors, Atrial septal defect, Long fa...	ORPHA:261330
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Conjunctival icterus, Addictive alcohol use,...	ORPHA:57777
Oeis Complex	Epispadias, Ambiguous genitalia, female, Anteriorly placed anus, Ambiguous genitalia, male, Dupli...	OMIM:258040
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Coarse hair, Choanal stenosis, Micro...	ORPHA:83617
Hydrolethalus Syndrome 2	Micrognathia, Hydrocephalus, Anencephaly, Cleft palate, Agenesis of corpus callosum, Ventriculome...	OMIM:614120
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Hydr...	ORPHA:228308
Larsen Syndrome	Shallow orbits, Atrial septal defect, Conductive hearing impairment, Spina bifida occulta, Joint ...	OMIM:150250
Rahman Syndrome	Telecanthus, Cryptorchidism, Camptodactyly, High anterior hairline, Ventriculomegaly	OMIM:617537
Shukla-Vernon Syndrome	Coarse facial features, Impulsivity, Aggressive behavior, Downslanted palpebral fissures, Attenti...	OMIM:301029
Young-Onset Parkinson Disease	Restless legs, Impulsivity, Male sexual dysfunction, Agitation, Abnormal autonomic nervous system...	ORPHA:2828
Dyskeratosis Congenita, X-Linked	Ridged nail, Reticulated skin pigmentation, Pterygium of nails, Premature graying of hair, Leukop...	OMIM:305000
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Wide nose, Short lingual frenulum, Unilateral hypoplasia of pectoralis major muscle, Supernumerar...	ORPHA:1521
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Ambiguous ...	ORPHA:90791
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Short philtrum, Abnormal facial shape, Hypothyroidism, Hashimoto thyroiditis, Hepatomegaly, Short...	OMIM:613385
Genitopatellar Syndrome	Small scrotum, Micrognathia, Prominent nose, Knee flexion contracture, Anteriorly placed anus, At...	OMIM:606170
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Dysphagia, Weakness of facia...	OMIM:617069
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Skeletal muscle atrophy, Neurogenic bladder, Urinary incontinence, Micrognathia, Sparse eyebrow, ...	ORPHA:496641
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Cardiomegaly, Oligosacchariduria, Macroglossia, Left ventricular ...	ORPHA:308552
Roberts Syndrome	Micrognathia, Brachycephaly, Knee flexion contracture, High palate, Sparse hair, Wrist flexion co...	ORPHA:3103
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Optic nerve hypoplasia, Hydrocephalus, Muscular dystrophy, Polymicrogyria, Ty...	OMIM:615181
Developmental And Epileptic Encephalopathy 110	Tented upper lip vermilion, Posterior plagiocephaly, High palate, Low-set ears, Bruxism, Macrotia...	OMIM:620149
Gracile Bone Dysplasia	Short stature, Asplenia, Hydrocephalus, Hypoplastic spleen, Aniridia, Micropenis, Decreased skull...	OMIM:602361
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Ptosis	OMIM:610539
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Growth delay, Abnormal autonomic nervous syst...	ORPHA:168593
Meacham Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormality of the spleen, Conotruncal defe...	ORPHA:3097
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ...	OMIM:273250
Dextrocardia	Meckel diverticulum, Intestinal malrotation, Dextrocardia, Abnormal reproductive system morpholog...	ORPHA:1666
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up...	OMIM:225500
Combined Oxidative Phosphorylation Defect Type 23	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Right ventricular hypertrophy	ORPHA:444013
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Diamond-Blackfan Anemia	Pure red cell aplasia, Micrognathia, Low anterior hairline, Reticulocytopenia, Leukopenia, High p...	ORPHA:124
Myoclonus, Intractable, Neonatal	Optic disc pallor, Dysphagia, Increased variability in muscle fiber diameter, Impaired oral bolus...	OMIM:617235
17Q24.2 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Synophrys, Pineal cyst, Shor...	ORPHA:529962
Boomerang Dysplasia	Abnormally ossified vertebrae, Decreased response to growth hormone stimulation test, Cryptorchid...	ORPHA:1263
Mohr Syndrome	Telecanthus, Median cleft lip, Depressed nasal bridge, Short stature, Accessory oral frenulum, Mi...	OMIM:252100
Thrombocytopenia-Absent Radius Syndrome	Low-set, posteriorly rotated ears, Abnormality of the kidney, Micrognathia, Sensorineural hearing...	ORPHA:3320
Hunter-Macdonald Syndrome	Thin upper lip vermilion, Hypospadias, Short stature, Bicuspid aortic valve, Blepharophimosis, Pa...	OMIM:611962
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Prominent nose, Brachycephaly, Abnormal periodontium morphology, High palate, Atrial ...	ORPHA:480880
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Goiter, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of t...	OMIM:600791
Body Mass Index Quantitative Trait Locus 19	Hyperinsulinemia, Anosmia, Increased serum leptin, Hyposmia, Polyphagia	OMIM:617885
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, J...	ORPHA:436252
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Micrognathia, High palate, Atrial septal defect, Parietal bossing, Patent ...	OMIM:619343
Myasthenic Syndrome, Congenital, 3B, Fast-Channel	High palate, Facial palsy, Ptosis	OMIM:616322
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Frontal bossing, Severe short stature, Depressed nasal bridge, Urinary incontinence, Rhizomelia, ...	OMIM:616482
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Bilateral cryptorchidism, Hypoplasia of the maxilla, Knee...	OMIM:617402
Keipert Syndrome	Epicanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Prominen...	ORPHA:2662
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Frontal bossing, Short stature, Rhizomelia, Hydrocephalus, Depressed nasal ridge, Low-set ears, I...	OMIM:300863
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Bilateral conductiv...	OMIM:617802
Distal Deletion 19P	Low-set, posteriorly rotated ears, Alopecia, Vaginal hernia, Ventricular septal defect, Hypoplasi...	ORPHA:96129
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micrognathia, Prominent nose, Long nose, Sparse hair, Bifid uvula, Abnormally ossifie...	ORPHA:2636
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Osteopenia, Communicating hydrocephalus, Brachycephaly, Oligosacchariduria...	ORPHA:309282
Occipital Horn Syndrome	Osteopenia, Recurrent urinary tract infections, Osteomalacia, Thick hair, Hiatus hernia, High, na...	ORPHA:198
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Complex organic aciduria, Abnormal optic ne...	ORPHA:506
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Plagiocephaly, Increased serum serotonin, Abnormal repetitive mannerisms, I...	OMIM:300495
Corpus Callosum, Partial Agenesis Of, X-Linked	Aganglionic megacolon, Partial agenesis of the corpus callosum, Hydrocephalus, High palate, Ventr...	OMIM:304100
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Postnatal growth reta...	ORPHA:2169
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia, Hepatomegaly, Ragged-red muscle fibers, Growth delay, Generalized amyotroph...	OMIM:613561
Schimke Immunoosseous Dysplasia	Osteopenia, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentrat...	OMIM:242900
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Frontal bossing, Short stature, Rhizomelia, Micrognathia, Hydrocephalus, Depressed nasal ridge, W...	ORPHA:163966
Pallister-Killian Syndrome	Tented upper lip vermilion, Small scrotum, Congenital diaphragmatic hernia, Micrognathia, Flexion...	OMIM:601803
Orofaciodigital Syndrome Type 1	Brittle hair, Micrognathia, Reduced bone mineral density, Lobulated tongue, Coarse hair, High pal...	ORPHA:2750
Mitochondrial Complex I Deficiency, Nuclear Type 5	Hepatomegaly, Optic atrophy, Increased CSF lactate, Growth delay, Dysphagia, Ptosis	OMIM:618226
Fanconi Anemia, Complementation Group A	Male infertility, Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Ren...	OMIM:227650
Tangier Disease	Orange discolored tonsils, Peripheral axonal neuropathy, Chronic noninfectious lymphadenopathy, T...	ORPHA:31150
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Ventricular septal defect, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus...	OMIM:600460
Gaucher Disease	Osteopenia, Osteoarthritis, Abnormality of skin pigmentation, Cherry red spot of the macula, Hepa...	ORPHA:355
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Neuroocular Syndrome	Hyperextensibility of the finger joints, Brittle hair, Synophrys, Lens coloboma, Downturned corne...	OMIM:619539
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Prominent nose, Synophrys, Brachyceph...	OMIM:612474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Sensorineural hearing impairment, Flexion contracture, Hydrocephalus, Coloboma, Lissencephaly, Mu...	OMIM:615249
Xeroderma Pigmentosum	Conjunctival telangiectasia, Ankyloblepharon, Aminoaciduria, Pterygium, Alopecia, Short stature, ...	ORPHA:910
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial ...	OMIM:157640
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Micrognathia, Ankyloblepharon, Protruding ear, Hyperconvex fingernails, Coarse hai...	ORPHA:1071
Loeys-Dietz Syndrome 3	Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, High palate, Atrial septal defect, Bi...	OMIM:613795
Microphthalmia, Syndromic 5	Joint laxity, Ectopic posterior pituitary, Short stature, Optic nerve hypoplasia, Retinal dystrop...	OMIM:610125
Maternal Uniparental Disomy Of Chromosome 6	Ventriculomegaly, Cleft upper lip, Thrombocytopenia, Cleft palate, Hydrocele testis, Increased se...	ORPHA:96181
Combined Oxidative Phosphorylation Deficiency 32	Coarse facial features, Optic atrophy, Horseshoe kidney, Increased CSF lactate, Dysphagia, Joint ...	OMIM:617664
Congenital Myasthenic Syndromes With Glycosylation Defect	Joint laxity, Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle m...	ORPHA:353327
Thoracoabdominal Syndrome	Hypospadias, Renal agenesis, Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arte...	OMIM:313850
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Epicanthus, Cryptorchidism, Facial shape deformation, Tetralogy of Fallot, Ventriculomegaly	ORPHA:88639
Segawa Syndrome, Autosomal Recessive	Decreased CSF homovanillic acid concentration, Ptosis	OMIM:605407
Adrenal Hypoplasia, Congenital	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Renal sa...	OMIM:300200
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Thin upper lip vermilion, Optic disc pallor, Abnormal auditory evoked potentials, Low posterior h...	OMIM:617523
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Decreased muscle mass, Renal agenesis, Maternal diabet...	ORPHA:3027
Cantú Syndrome	Coarse facial features, Epicanthus, Anteverted nares, Abnormal heart valve morphology, Curly eyel...	ORPHA:1517
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria	Ptosis, Abnormal mitochondria in muscle tissue, Abnormal cranial nerve morphology	OMIM:258470
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Thin upper lip vermilion, Hyperactivity, Epicanthus, Aggressive behavior, Postnatal growth retard...	OMIM:620242
Iniencephaly	Encephalocele, Renal agenesis, Rhizomelia, Spina bifida, Abnormal occipital bone morphology, Cong...	ORPHA:63259
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Diabetes mellitus, Limb-girdle muscle weakness, Sensorineura...	ORPHA:1215
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Brachycephaly, Bacterial endocarditis, Papilledema, Hepatosplenomegaly...	ORPHA:2072
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Primary hyperaldosteronism...	OMIM:615474
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Sensorineural hearing impairment, Optic atrophy, In...	OMIM:220110
Maternal Phenylketonuria	Hyperactivity, Epicanthus, Anteverted nares, Ventricular septal defect, Micrognathia, Esophageal ...	ORPHA:2209
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Micrognathia, Brachycephaly, Axial malrotation of the kidney, Vesicouretera...	OMIM:274000
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Hypospadias, Bilateral cryptorchidism, Agitation, Micropenis	OMIM:618840
Oculocerebral Hypopigmentation Syndrome, Preus Type	Short stature, Iris hypopigmentation, Abnormality of neutrophils, Hearing impairment, Hydrocephal...	ORPHA:2720
Houge-Janssens Syndrome 1	Congenital muscular torticollis, Facial hypotonia, Pyloric stenosis, Hydrocephalus, Intrauterine ...	OMIM:616355
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydrocephalus, Holoprosencephaly, Hydranencephaly, Abnormal facial shape, Dandy-Walker malformati...	OMIM:617967
Native American Myopathy	Joint laxity, Skeletal muscle atrophy, Muscle fiber atrophy, Short stature, Micrognathia, Conduct...	ORPHA:168572
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Osteopenia, Tented upper lip vermilion, Small scrotum, External genital hypoplasia, Anteverted na...	OMIM:614231
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Leiom...	ORPHA:116
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Chronic gastritis, Osteopenia, Mild postnatal growth retardation, Bicuspid...	OMIM:150230
Mucolipidosis Ii Alpha/Beta	Osteopenia, Brittle hair, Micrognathia, Cardiomegaly, Sparse hair, Progressive alveolar ridge hyp...	OMIM:252500
Meckel Syndrome, Type 6	Occipital encephalocele, Abnormal internal genitalia, Absent gallbladder, Cleft upper lip, Hydroc...	OMIM:612284
Diets-Jongmans Syndrome	Thin upper lip vermilion, Hypospadias, Short stature, Hearing impairment, Broad nasal tip, Congen...	OMIM:618846
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Abnormal auditory evoked potentials, Optic atrophy, Increased variability in muscle fiber diamete...	OMIM:125250
Mucopolysaccharidosis, Type Vi	Flexion contracture, Hepatomegaly, Depressed nasal bridge, Short stature, Cardiomyopathy, Umbilic...	OMIM:253200
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Short stature, Decreased nerve conduction velocity, Sensorineural hearin...	ORPHA:1933
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, L...	OMIM:603554
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Bicuspid aortic valve, Ectopic kidney, Micrognathia, High, narrow palate, Hypoplastic...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Bicuspid aortic valve, Ectopic kidney, Micrognathia, High, narrow palate, Hypoplastic...	ORPHA:99228
Monosomy X	Osteopenia, Bicuspid aortic valve, Ectopic kidney, Micrognathia, High, narrow palate, Hypoplastic...	ORPHA:99226
Turner Syndrome	Osteopenia, Bicuspid aortic valve, Ectopic kidney, Micrognathia, High, narrow palate, Hypoplastic...	ORPHA:881
Meckel Syndrome, Type 3	Occipital encephalocele, Multicystic kidney dysplasia, Hepatomegaly, Hydrocephalus, Cleft palate,...	OMIM:607361
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Atrial septal defect, Patent foramen ovale, Pate...	ORPHA:1686
Beckwith-Wiedemann Syndrome	Cardiomegaly, Nephrocalcinosis, Vesicoureteral reflux, Posterior helix pit, Dandy-Walker malforma...	OMIM:130650
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb joint contracture, Cryptorchidism, Patent ductus arteriosus, Limb hypertonia, Atrial septal ...	OMIM:620327
Femoral-Facial Syndrome	Limited elbow movement, Micrognathia, Maternal diabetes, Abnormal facial shape, Micropenis, Short...	OMIM:134780
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado...	OMIM:194072
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Low-set, posteriorly rotated ears, Mandibular prognathia, Joint laxity, Communicating hydrocephal...	ORPHA:457359
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Micrognathia, Knee flexion contracture, Clitoral hypoplasia, High palate, Atrial s...	OMIM:609945
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Hydrocephalus, Bicuspid aortic valve	ORPHA:397951
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Urinary incontinence, Facial palsy, Abnormal occ...	ORPHA:2356
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Hypopigmentation of hair, Epicanthus, Short stature, Splenomegaly, Growth delay, Os...	OMIM:618541
Orofaciodigital Syndrome Vi	Micrognathia, Lobulated tongue, High palate, Conductive hearing impairment, Agenesis of corpus ca...	OMIM:277170
Oculodentodigital Dysplasia	Dry hair, Selective tooth agenesis, Fragile nails, High palate, Joint contracture of the 5th fing...	OMIM:164200
Cohen-Gibson Syndrome	Osteopenia, Joint laxity, Round face, Epicanthus, Depressed nasal bridge, Thin nail, Cryptorchidi...	OMIM:617561
Amyloidosis, Hereditary, Transthyretin-Related	Ptosis, Peripheral axonal neuropathy, Urinary incontinence, Cardiomegaly, Sensorineural hearing i...	OMIM:105210
Coccidioidomycosis	Broad skull, Abnormality of the spleen, Abnormality of the male genitalia, Abnormality of the fem...	ORPHA:228123
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Alopecia, Long uvula, Diabetes mellitus, Micrognathia, Pericardial effusion, Cryptorc...	ORPHA:536532
Kearns-Sayre Syndrome	Hypoparathyroidism, Sideroblastic anemia, Diabetes mellitus, Short stature, Sensorineural hearing...	OMIM:530000
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Neutropenia, Sparse hair, Microdontia, Hypothyroidism, Hypopigmentat...	ORPHA:221008
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Myopathy, Myofibrillar, 8	Ptosis, Scapular winging, Micrognathia, Centrally nucleated skeletal muscle fibers, Distal joint ...	OMIM:617258
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Abnormal size of the palpebral fissures, Camptodactyly of finger, Hypoplas...	ORPHA:1101
Nasu-Hakola Disease	Hydrocephalus, Bone cyst, Limitation of joint mobility, Acute leukemia, Reduced bone mineral dens...	ORPHA:2770
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Renal agenesis, Choanal atresia, Cleft upper lip, Absent extern...	OMIM:273395
Tetragametic Chimerism	Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Abnormal heart morphology, Pigmentary retinopathy, Dysphagia, Abnormal repetit...	ORPHA:79264
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Frontal bossing, High, narrow palate, Hydrocephalus, Joint hyperflexibility, Umbilical hernia	ORPHA:2181
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Distal joint laxity, Limb-girdle mu...	OMIM:616228
Congenital Myopathy 1B, Autosomal Recessive	Joint laxity, Skeletal muscle atrophy, Ptosis, Facial palsy, Centrally nucleated skeletal muscle ...	OMIM:255320
Arima Syndrome	Nephronophthisis, Chorioretinal coloboma, Tubulointerstitial fibrosis, Hepatomegaly, Renal cortic...	OMIM:243910
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Ptosis, Renal insufficiency, Telecanthus, Short stature, Pulmonary lymphangie...	OMIM:247410
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Short stature, Ventricular septal defect, Unilateral renal agenesis, Cryp...	OMIM:620024
Ascher Syndrome	Ptosis, Wide nose, Abnormal eyelid morphology, Upper eyelid edema, Abnormal upper lip morphology,...	ORPHA:1253
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Peripheral retinal avascularization, External ...	ORPHA:96334
Leigh Syndrome	Ptosis, Sensorineural hearing impairment, Optic atrophy, Increased CSF lactate, Hepatocellular ne...	OMIM:256000
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Ptosis, Epicanthus, Abnormal number of hair whorls, Mitral atresia, Patent ductus arteriosus, Opt...	OMIM:618164
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles...	ORPHA:98913
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome	Wide mouth, Ptosis, Abnormality of mouth shape, Underdeveloped tragus	ORPHA:83619
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Ptosis, Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Dyspha...	OMIM:608423
Pfeiffer Syndrome Type 2	Cloverleaf skull, Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Aqueductal ste...	ORPHA:93259
Cystinosis	Renal insufficiency, Proteinuria, Short stature, Retinopathy, Malabsorption, Nephrogenic diabetes...	ORPHA:213
Insulin-Like Growth Factor I Deficiency	Osteopenia, Decreased serum insulin-like growth factor 1, Hyperactivity, Short stature, Elevated ...	OMIM:608747
Kniest Dysplasia	Rhegmatogenous retinal detachment, Delayed epiphyseal ossification, Degenerative vitreoretinopath...	ORPHA:485
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi...	ORPHA:752
Kufor-Rakeb Syndrome	Torticollis, Aggressive behavior, Anosmia, Dysphagia, Leg muscle stiffness, Hyposmia	OMIM:606693
Gaucher Disease, Perinatal Lethal	Micrognathia, Cardiomegaly, Neonatal death, Hepatomegaly, Anteverted nares, Depressed nasal bridg...	OMIM:608013
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Joint laxity, Hydrocephalus	OMIM:236660
Culler-Jones Syndrome	Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Cleft upper lip, Crypt...	OMIM:615849
Giant Cell Arteritis	Ptosis, Renal insufficiency, Pericarditis, Diabetes insipidus, Epistaxis, Alopecia, Joint stiffne...	ORPHA:397
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali...	ORPHA:90795
Distal Renal Tubular Acidosis	Hypocitraturia, Renal cyst, Reduced bone mineral density, Nephrocalcinosis, Aminoaciduria, Low-mo...	ORPHA:18
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect, Cryptorchidism, Growth delay, Attention deficit hyperactivity disorder...	OMIM:619908
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Short...	OMIM:600901
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Peripheral axonal neuropathy, Camptodactyly of finger, Facial palsy, Superior rectus atrophy, Lev...	OMIM:600638
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu...	OMIM:241080
Ovarian Dysgenesis 2	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea...	OMIM:300510
Craniofacial Microsomia 1	Occipital encephalocele, Hemifacial hypoplasia, Ectopic kidney, Hypoplasia of the maxilla, Microg...	OMIM:164210
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Ptosis, Telecanthus, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Microg...	ORPHA:314655
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Sparse eyelashes, Camptodactyly of finger, Underde...	ORPHA:306542
Perlman Syndrome	Tented upper lip vermilion, Nephrogenic rest, Congenital diaphragmatic hernia, Micrognathia, Hypo...	OMIM:267000
Pilarowski-Bjornsson Syndrome	Frontal bossing, Postnatal growth retardation, Almond-shaped palpebral fissure, Long eyelashes, D...	OMIM:617682
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Brachycephaly, Absent nasal bridge, Neonatal death, Micropenis, Absent gallbladder,...	OMIM:617925
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency	Ptosis, Facial palsy, Dysphagia	OMIM:616325
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Secondar...	OMIM:615300
Short Stature, Developmental Delay, And Congenital Heart Defects	Ventricular septal defect, Proportionate short stature, Abnormal repetitive mannerisms, Patent du...	OMIM:617044
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Dysp...	OMIM:207950
Non-Specific Early-Onset Epileptic Encephalopathy	Ptosis, Short stature, Impulsivity, Optic atrophy, Hypodontia, Attention deficit hyperactivity di...	ORPHA:442835
Oculopharyngodistal Myopathy 2	Ptosis, Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Wea...	OMIM:618940
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Ventricular septal defect, Intes...	OMIM:270100
Coach Syndrome 2	Hydrocephalus, Coloboma, Chorioretinal coloboma, Hyperechogenic kidneys, Agenesis of corpus callosum	OMIM:619111
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Choanal stenosis, Atrichia, Periungual erythema, Atrial septal defect, Neonatal death, Dystrophic...	OMIM:308205
Spondyloepimetaphyseal Dysplasia, Krakow Type	Frontal bossing, Decreased serum insulin-like growth factor 1, Atrial septal defect, Rhizomelia, ...	OMIM:618162
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, Long nose, High palate, Neutropenia, Microdontia, Sparse hair, Hypop...	ORPHA:221016
Isolated Splenogonadal Fusion	Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula...	ORPHA:457083
Tuberous Sclerosis Complex	Pancreatic endocrine tumor, Renal cyst, Chorioretinal hypopigmentation, Pheochromocytoma, Subepen...	ORPHA:805
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome	Epicanthus, Depressed nasal bridge, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosi...	ORPHA:126
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Cardiomyopathy, Familial Hypertrophic, 17	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myocardial fibrosis	OMIM:613873
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Spinocerebellar Ataxia, Autosomal Recessive 8	Peripheral axonal neuropathy, Hearing impairment, Optic atrophy, Abnormal autonomic nervous syste...	OMIM:610743
Hec Syndrome	Communicating hydrocephalus, Abnormal retinal vascular morphology, Vaginal hydrocele, Cardiomyopa...	ORPHA:2119
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Micrognathia, Cryptorchidism, Patent ductus arteriosus, Methylmalonic aciduria, Growth delay, Nor...	OMIM:614857
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Optic atrophy, Myopathy, Holoprosencephaly	ORPHA:588
Myasthenic Syndrome, Congenital, 10	Tongue atrophy, Proximal amyotrophy, Distal amyotrophy, Weakness of facial musculature, Ptosis	OMIM:254300
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Mandibular prognathia, Joint laxity, Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressiv...	ORPHA:449291
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Mixed hearing impairment, Short stature, Long eyebrows, Cleft upper lip, W...	OMIM:201180
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Chorioretinal dysplasia, Abnormal eyelid morphology, Protruding ear, Abnormal optic nerve morphol...	ORPHA:2526
Diamond-Blackfan Anemia 10	Congenital diaphragmatic hernia, Ectopic kidney, Micrognathia, Morgagni diaphragmatic hernia, Ret...	OMIM:613309
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Simplified gyral pattern, Protruding ear, Downturned corners of mouth,...	ORPHA:500150
Pituitary Stalk Interruption Syndrome	Hypoplasia of penis, Septo-optic dysplasia, Ectopic posterior pituitary, Short stature, Adrenal h...	ORPHA:95496
Cerebral Creatine Deficiency Syndrome 1	Mandibular prognathia, Ptosis, Narrow face, Aganglionic megacolon, Short stature, Aggressive beha...	OMIM:300352
Whipple Disease	Hepatomegaly, Myositis, Pericarditis, Generalized hyperpigmentation, Anorexia, Malabsorption, Med...	ORPHA:3452
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Abnormal pinna morphology, Hydrocephalus, Vertigo, Small pituitary gland, Seve...	OMIM:614195
Microphthalmia With Brain And Digit Anomalies	Retinal dystrophy, Cryptorchidism, Sensorineural hearing impairment, High palate, Nail dysplasia,...	ORPHA:139471
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Coloboma, Chorioretinal coloboma, Vesicoureteral reflux, Conductive hearin...	ORPHA:959
Papillary Tumor Of The Pineal Region	Hearing abnormality, Hydrocephalus, Increased CSF protein concentration, Abnormal eyelid morphology	ORPHA:251915
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hyperactivity, Telecanthus, Crowded maxillary incisors, Hypoplasia of the ...	ORPHA:397973
Frontofacionasal Dysplasia	Telecanthus, Cleft upper lip, Underdeveloped nasal alae, Absent inner eyelashes, Blepharophimosis...	OMIM:229400
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Coarse facial features, Proteinuria, Intestinal malrotation, Ventricular septal defect, Hypoplast...	OMIM:616682
Nail-Patella Syndrome	Ridged nail, Biceps aplasia, Absence of pectoralis minor muscle, Short stature, Spina bifida, Cle...	OMIM:161200
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Optic atrophy, Skeletal muscle steatosis, Increased...	ORPHA:436271
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Myopathy, Movement abnormality of the tongue, Sensory axonal neuropathy, Ptosis	ORPHA:254881
Developmental And Epileptic Encephalopathy 84	Smooth philtrum, Epicanthus, Synophrys, Thick lower lip vermilion, Plagiocephaly, Large earlobe, ...	OMIM:618792
Snijders Blok-Fisher Syndrome	Epicanthus, Facial hypotonia, Cryptorchidism, Cupped ear, Protruding ear	OMIM:618604
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Ptosis, Peripheral axonal neuropathy, Flexion contracture, Optic atrophy, Spastic/hyperactive bla...	ORPHA:137898
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Decreased nerve conduction velocity, Cryptorchidism, Congenital foot contractu...	ORPHA:565624
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,...	ORPHA:71526
Spinocerebellar Ataxia 47	Short stature, Wide nasal bridge, High palate, Low-set ears, Abnormal facial shape, Ptosis	OMIM:617931
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Recurrent fractures, Craniosynostosis, Premature loss of...	ORPHA:667
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Sinusitis, Micrognathia, Malar prominence, Long nose, Deep philtrum,...	OMIM:251260
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Frontal bossing, Postnatal growth retardation, Almond-shaped palpebral fissure, Downslanted palpe...	ORPHA:529965
Branchiootic Syndrome	Branchial fistula, Abnormal nasolacrimal system morphology, Facial palsy, Lip pit, Micrognathia, ...	ORPHA:52429
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response to growth h...	ORPHA:96179
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Micrognathia, Alobar holoprosencephaly, Aplasia of the nose, Patent forame...	OMIM:301043
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Long nose, Low anterior hairline, Brachycephaly, Shallow orbits, Short...	OMIM:101400
Cardiomyopathy, Familial Hypertrophic, 11	Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri...	OMIM:612098
Duplication Of The Pituitary Gland	Encephalocele, Short stature, Abnormality of joint mobility, Supernumerary tooth, Abnormal pituit...	ORPHA:314621
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Hydrocephalus, Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Ren...	ORPHA:157
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred...	ORPHA:424107
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Ungual fibroma, Retinal hamartoma, Hydrocephalus, Abnorma...	ORPHA:538
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Synophrys, Oligodontia, High palate, Exaggerated median...	OMIM:608670
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Aganglionic megacolon, Promi...	ORPHA:163746
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Synaptic Congenital Myasthenic Syndromes	Mandibular prognathia, Skeletal muscle atrophy, Scapular winging, Ptosis, Facial palsy, Limited w...	ORPHA:98915
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Bicuspid aortic valve, Deep philtrum, Atrial septal defect, Vesicoureteral reflux, Hy...	ORPHA:438213
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Ptosis, Polyuria, Rickets, Osteoporosis, Mottled pigmentation of photoexposed areas...	OMIM:560000
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia...	ORPHA:90794
Bloom Syndrome	Narrow face, Elevated hemoglobin A1c, Decreased fertility in females, Prominent nose, Cryptorchid...	OMIM:210900
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Ptosis, Short stature, Camptodactyly of finger, Micrognathia, Joint stiffness, Narrow palate, Low...	ORPHA:1323
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Ptosis, Ragged-red muscle fibers, Optic atrophy, Increased CSF lactate, ...	OMIM:616239
Wrinkly Skin Syndrome	Osteopenia, Decreased muscle mass, Generalized joint laxity, High palate, Sparse hair, Dandy-Walk...	ORPHA:2834
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Mandibular prognathia, Hypopigmentation of hair, Hyperactivity, Polyphagia, Wide mouth, Inappropr...	ORPHA:411515
Meier-Gorlin Syndrome 4	Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Thick lower lip vermilion...	OMIM:613804
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Abnormal retinal vascular morphology, Hearing ab...	ORPHA:3205
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Tented upper lip vermilion, Brachycephaly, Lateral ventricle dilatation, Long philtrum, Ptosis	OMIM:619972
Deafness, X-Linked 7	Ptosis, Telecanthus, Posteriorly rotated ears, Wide nasal bridge, Atresia of the external auditor...	OMIM:301018
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract infections, D...	ORPHA:361
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, T lymphocytopenia, Abnormal facial shape, Abnorm...	ORPHA:508533
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Micrognathia, Abnormality of the gingiva, Pineal cyst, Widely spaced teeth, Pachygyria, Abnormal ...	ORPHA:513456
Cystinosis, Nephropathic	Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-mo...	OMIM:219800
Lethal Acantholytic Erosive Disorder	Natal tooth, Absent eyebrow, Abnormal pinna morphology, Cardiomegaly, Absent eyelashes, Cleft pal...	ORPHA:158687
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Flexion contracture, Optic atrophy, Pigme...	OMIM:613154
Hatipoglu Immunodeficiency Syndrome	Pancytopenia, Hypospadias, Proportionate short stature, Hyperpigmented/hypopigmented macules, Cry...	OMIM:620331
Vascular Ehlers-Danlos Syndrome	High, narrow palate, Abnormality of the gingiva, Osteoarthritis, Gingivitis, Protruding ear, Abno...	ORPHA:286
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Brachycephaly, Atrial sept...	OMIM:265380
Adams-Oliver Syndrome	Encephalocele, Alopecia, Abnormal pulmonary valve morphology, Hydrocephalus, Esophageal varix, Ap...	ORPHA:974
Myasthenic Syndrome, Congenital, 6, Presynaptic	Ptosis, Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy, Dysphagia	OMIM:254210
Nephronophthisis 18	Retinitis, Hydrocephalus, Stage 5 chronic kidney disease, Thickened glomerular basement membrane,...	OMIM:615862
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Optic disc pallor, Multiple joint contractures, Short stature, Growth delay, Ventriculomegaly, Pt...	ORPHA:363429
Sotos Syndrome	Ureteral duplication, Narrow face, No permanent dentition, Flexion contracture, Vesicoureteral re...	ORPHA:821
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Macrocytic anemia, Splenomegaly, Sensorineural hearing impairment, Increased CSF lactate, Cardiom...	OMIM:619046
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Urethral atresia, Tra...	OMIM:314390
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Ptosis, Alopecia, Hypopigmentation of hair, Abnormal heart morphology	ORPHA:1067
Laurin-Sandrow Syndrome	Tarsal synostosis, Prominent nose, Underdeveloped nasal alae, Cryptorchidism, Abnormality of the ...	ORPHA:2378
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Mandibular prognathia, Telecanthus, Dental crowding, Blepharophimosis, Ptosis	OMIM:606772
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Renal Fanconi syndrome, High palate, Hypophosphatemic rickets, Stage 3 c...	OMIM:619743
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
Congenital Disorder Of Glycosylation, Type Iio	Skeletal muscle atrophy, Hepatomegaly, Ptosis, Splenomegaly, Hepatosplenomegaly, Abnormal facial ...	OMIM:616828
Tetraamelia Syndrome 2	Microretrognathia, Absent nipple, Ventricular septal defect, Bilateral cleft lip, Micrognathia, C...	OMIM:618021
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Colonic diverticula, Ptosis, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal mal...	OMIM:243180
Neural Tube Defects, Susceptibility To	Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	OMIM:182940
Larsen Syndrome	Depressed nasal bridge, Short stature, Craniosynostosis, Short nail, Cryptorchidism, Cleft palate...	ORPHA:503
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Micrognathia, Brachycephaly, Absent eyebrow, Abnormal dental morphology, Abnormal dental enamel m...	ORPHA:85199
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Palpebral edema, Prominent occiput, Fingernail dysplasia, Ab...	ORPHA:1259
Cardiomyopathy, Dilated, 1D	Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:601494
Familial Visceral Myopathy	Low-set, posteriorly rotated ears, Hyperparathyroidism, Hydroureter, Aganglionic megacolon, Round...	ORPHA:2604
Achondroplasia	Frontal bossing, Short nasal bridge, Anteverted nares, Depressed nasal bridge, Rhizomelia, Hip jo...	ORPHA:15
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Frontal bossing, Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Shor...	OMIM:616723
Prolidase Deficiency	Hepatomegaly, Depressed nasal bridge, Micrognathia, Hyperimidodipeptiduria, Thrombocytopenia, Spl...	OMIM:170100
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Ptosis, Tented upper lip vermilion, Facial palsy, Left ventricular noncompaction ca...	OMIM:619424
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Convex nasal ridge, Micrognathia, Osteoarthritis, Flexio...	ORPHA:666
Tsh-Secreting Pituitary Adenoma	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy...	ORPHA:91347
Joubert Syndrome 7	Encephalocele, Retinal dystrophy, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, P...	OMIM:611560
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Microretrognathia, Joint laxity, Short stature, Prominent nose, Aggressive behavior, Bulbous nose...	OMIM:606220
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus, Bicuspid aortic valve, Aortic valve stenosis	OMIM:615599
Wrinkly Skin Syndrome	Osteopenia, High palate, Microdontia, Sparse hair, Microretrognathia, Scapular winging, Short sta...	OMIM:278250
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Osteopenia, Hypergonadotropic hypogonadism, Femal...	ORPHA:91
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Epicanthus, Intestinal malrotation, Micrognathia, Hydrocephalus, Choroi...	OMIM:617866
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Type 2 muscle fiber atrophy, Myopathy, Dysphagia, Limb muscle weakness, Ptosis	OMIM:605809
Six2-Related Frontonasal Dysplasia	Frontal bossing, Absent/hypoplastic paranasal sinuses, Posteriorly rotated ears, Abnormality of t...	ORPHA:488437
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Neurogenic bladder, Anal stenosis, Block vertebrae, Short stature, Dextrocardia...	OMIM:613686
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Abnormal mitochondrial morphology, Disinhibition, General...	ORPHA:275872
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Craniosynostosis, Widely spaced teeth, Attention deficit hyperactivity disorder, Abnormal repetit...	OMIM:618906
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Axial Spondylometaphyseal Dysplasia	Osteopenia, Mild postnatal growth retardation, Short stature, Retinal dystrophy, Peripheral retin...	ORPHA:168549
Myasthenic Syndrome, Congenital, 22	Tented upper lip vermilion, Short stature, Decreased response to growth hormone stimulation test,...	OMIM:616224
Multifocal Atrial Tachycardia	Ventricular septal defect, Cryptorchidism, Hypothyroidism, Pulmonic stenosis, Atrial septal defec...	ORPHA:3282
Cerebrocostomandibular Syndrome	Ectopic kidney, Micrognathia, Renal cyst, Anteriorly placed anus, Glossoptosis, High palate, Cond...	OMIM:117650
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Brachycep...	OMIM:201750
Orofaciodigital Syndrome Type 2	Micrognathia, Central retinal vessel vascular tortuosity, Protruding ear, High palate, Conductive...	ORPHA:2751
Johanson-Blizzard Syndrome	Convex nasal ridge, Anteriorly placed anus, Downturned corners of mouth, Atrial septal defect, Hy...	OMIM:243800
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Ptosis, Weakness of facial musculature, Dysphagia	OMIM:618637
Truncus Arteriosus	Truncus arteriosus, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Pat...	ORPHA:3384
Atelosteogenesis, Type I	Encephalocele, Frontal bossing, Depressed nasal bridge, Rhizomelia, Micrognathia, Cryptorchidism,...	OMIM:108720
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Growth delay, Ambiguous genitalia, male...	OMIM:608800
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Orofacial cleft, Patent f...	ORPHA:17
Fazio-Londe Disease	Ptosis, Facial diplegia, Dysphagia	OMIM:211500
Myasthenic Syndrome, Congenital, 16	Bilateral ptosis, High palate, Ptosis	OMIM:614198
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Optic disc pallor, Skeletal muscle atrophy, Hepatomegaly, Hypospa...	OMIM:252010
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc...	OMIM:236730
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Epicanthus, Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing horm...	OMIM:619761
Primary Dystonia, Dyt13 Type	Torticollis, Abnormal repetitive mannerisms	ORPHA:98807
Autosomal Recessive Spastic Paraplegia Type 77	Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence, Bilateral cryptorchidis...	ORPHA:466722
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature	Thin upper lip vermilion, Ptosis, Short stature, Broad nasal tip, Aplasia/Hypoplasia of the earlo...	OMIM:609037
Orofaciodigital Syndrome Xvi	Depressed nasal bridge, Short palpebral fissure, Hamartoma of tongue, Gray matter heterotopia, Lo...	OMIM:617563
Cryptococcosis	Osteomyelitis, Lymphoid leukemia, Abnormal retinal morphology, Mediastinal lymphadenopathy, Hydro...	ORPHA:1546
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Epicanthus, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteri...	ORPHA:2519
Androgen Insensitivity, Partial	Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad...	OMIM:312300
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Ptosis, Centrally nucleated skeletal m...	OMIM:619733
De Sanctis-Cacchione Syndrome	Severe short stature, Entropion, Hypermelanotic macule, Bilateral cryptorchidism, Sensorineural h...	OMIM:278800
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Thin upper lip vermilion, Coarse facial features, Ventriculomegaly, Anteverted nares, Diastasis r...	OMIM:618548
Thanatophoric Dysplasia, Type I	Frontal bossing, Cloverleaf skull, Hydrocephalus, Gray matter heterotopia, Disproportionate short...	OMIM:187600
Spinocerebellar Ataxia, Autosomal Recessive 32	Torticollis, Hypomimic face, Dysphagia, Abnormal nerve conduction velocity, Ptosis	OMIM:619862
Monosomy 22Q13.3	Dental crowding, Hypoplastic toenails, Vesicoureteral reflux, Agenesis of corpus callosum, Hypera...	ORPHA:48652
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Short stature, Cryptorchidism, Sensorineural hearing impairment, Lateral ventricle dilatation, Dy...	OMIM:619847
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Skeletal muscle atrophy, Ptosis, Short stature, Microcytic anemia, Sensorineural hearing impairme...	OMIM:612073
Neonatal Inflammatory Skin And Bowel Disease	Chapped lip, Anal fissure, Perianal dermatitis, Otitis externa, Horizontal eyebrow, Left ventricu...	ORPHA:294023
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Aqueductal stenosis, Secundum atrial septal defect, Pr...	OMIM:619534
Norrie Disease	Protruding ear, Uterine rupture, Abnormal repetitive mannerisms, Abnormal chorioretinal morpholog...	ORPHA:649
Cutis Laxa, Autosomal Recessive, Type Iid	Entropion, Hypoplastic right heart, Blepharophimosis, Bilateral cryptorchidism, Bulbous nose, Ret...	OMIM:617403
Myasthenic Syndrome, Congenital, 3A, Slow-Channel	Ptosis, Dysphagia	OMIM:616321
Limb Body Wall Complex	Congenital diaphragmatic hernia, Atrial septal defect, Ectopia cordis, Spina bifida occulta, Iris...	ORPHA:2369
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Anteriorly displaced genitalia, High palate, Long ear, Elbow ankylosis, Long face,...	OMIM:276820
Bilateral Generalized Polymicrogyria	Short stature, Oral-pharyngeal dysphagia, Growth delay, Self-injurious behavior, Lateral ventricl...	ORPHA:208447
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur...	OMIM:277400
Frias Syndrome	Posteriorly rotated ears, Short stature, Micrognathia, Cupped ear, Downslanted palpebral fissures...	OMIM:609640
Townes-Brocks Syndrome 2	Crossed fused renal ectopia, Hypospadias, Bifid uterus, Cupped ear, Microtia, Rectovaginal fistul...	OMIM:617466
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Neutropenia, Hypothyroidism, H...	ORPHA:699
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht...	OMIM:619113
Pfeiffer Syndrome	Mandibular prognathia, Ptosis, Turricephaly, Short stature, Wide nasal bridge, High palate, Short...	ORPHA:710
Oculopharyngodistal Myopathy 4	Ptosis, Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscl...	OMIM:619790
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction, Ptosis	OMIM:615917
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Increased variability in musc...	OMIM:611705
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor...	OMIM:614129
Sick Sinus Syndrome 2	Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse	OMIM:163800
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Short stature, Cryptorchidism, Thin vermilion border, Narrow mouth, Micropenis	OMIM:612447
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Cryptorchidism, Spina bifida occulta, Hydronephrosis	OMIM:618060
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Torticollis, Cryptorchidism, Pyelonephritis, Oligozoospermia, Melanocyt...	OMIM:314300
Typical Nemaline Myopathy	Narrow face, Facial palsy, Micrognathia, Limb-girdle muscle weakness, Flexion contracture, Increa...	ORPHA:171436
Jackson-Weiss Syndrome	Mandibular prognathia, Frontal bossing, Turricephaly, Convex nasal ridge, Hypoplasia of the maxil...	ORPHA:1540
Apnea, Obstructive Sleep	Anosmia	OMIM:107650
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Hypopigmentation of hair, Flat occiput, Protruding tongue, Abnormal eating...	ORPHA:411511
Carney Complex	Neoplasm of the stomach, Moon facies, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell...	ORPHA:1359
Full Nf2-Related Schwannomatosis	Hyperpigmentation of the skin, Facial palsy, Remnants of the hyaloid vascular system, Bilateral v...	ORPHA:637
Hereditary Late-Onset Parkinson Disease	Impulsivity, Spastic/hyperactive bladder, Agitation, Dysphagia, Hyposmia, Orthostatic hypotension...	ORPHA:411602
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Splenomegaly, Sensorineural hearing impairment, Optic atr...	OMIM:615636
Coenzyme Q10 Deficiency, Primary, 4	Ptosis, Decreased level of coenzyme Q10 in skeletal muscle, Increased intramyocellular lipid drop...	OMIM:612016
Prune Belly Syndrome	Hydroureter, Cryptorchidism, Patent ductus arteriosus, Xerostomia, Aplasia of the abdominal wall ...	OMIM:100100
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Delayed vertebral ossification, Hydrocephalus, Flexion contracture, Disproportionate short-trunk ...	OMIM:613330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Type II lissencephaly, Cleft upper lip, Hydrocephalus, Cleft palate, Skeletal musc...	OMIM:613150
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Optic atrophy, Renal cyst, ...	ORPHA:137675
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Sideroblastic anemia, Brittle hair, Splenomegaly, Sensorineural hear...	OMIM:616084
Hemangioblastoma	Neurogenic bladder, Hydrocephalus, Vertigo, Upper limb muscle weakness, Retinal capillary hemangi...	ORPHA:252054
Stickler Syndrome, Type Vi	Depressed nasal bridge, Sensorineural hearing impairment, Downslanted palpebral fissures, Midface...	OMIM:620022
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Ptosis, Progressive sensorineural hearing impairment, Abnormal muscle fiber protein expression	ORPHA:330054
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Short stature, Ventricular septal defect, Spina bifida, Micrognathi...	ORPHA:1393
Isotretinoin Embryopathy-Like Syndrome	Micrognathia, Hydrocephalus, Cleft palate, Conotruncal defect, Anotia, Microtia	OMIM:243440
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Limitation of movement at ankles, Hypopigmentation of hair, Flat occiput, ...	ORPHA:98794
Intellectual Developmental Disorder, Autosomal Dominant 68	Frontal bossing, Epicanthus, Posteriorly rotated ears, Urinary incontinence, Patent ductus arteri...	OMIM:619934
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo...	OMIM:201810
Presynaptic Congenital Myasthenic Syndromes	Microretrognathia, Joint laxity, Muscle fiber atrophy, Ptosis, Limb-girdle muscle weakness, Senso...	ORPHA:98914
Congenital Myasthenic Syndrome	Microretrognathia, Joint laxity, Muscle fiber atrophy, Ptosis, Limb-girdle muscle weakness, Senso...	ORPHA:590
Cardiac Valvular Dysplasia, X-Linked	Joint laxity, Bicuspid aortic valve, Joint stiffness, Short chordae tendineae of the tricuspid va...	OMIM:314400
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Broad eyebrow, Depressed nasal bridge, Highly arched eyebrow, Underdeveloped nasal alae, Long nos...	ORPHA:457351
Parkinsonism-Dystonia 2, Infantile-Onset	Ptosis, Elevated urinary homovanillic acid, Abnormal autonomic nervous system physiology, Hypomim...	OMIM:618049
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Diabetes mellitus, Short stature, Neonatal alloimmune thro...	ORPHA:51
Yunis-Varon Syndrome	Flat occiput, Micrognathia, Protruding ear, Abnormal calvaria morphology, Short philtrum, High pa...	OMIM:216340
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Sensorineural hearing impairmen...	OMIM:618748
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Mandibular prognathia, Frontal bossing, Joint laxity, Communicating hydrocephalus, Posteriorly ro...	OMIM:617011
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Wide nose, Epicanthus, Long nose, Patent ductus arteriosus, Anomalou...	ORPHA:2184
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias, Anal atresia	OMIM:312190
Cole-Carpenter Syndrome	Delayed eruption of teeth, Frontal bossing, Turricephaly, Communicating hydrocephalus, Short stat...	ORPHA:2050
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Alopecia, Ectropion, Short stature, Sensorineural hearing impairment, EMG: myopathi...	ORPHA:98907
Musk, Inability To Smell	Anosmia	OMIM:254150
Myasthenic Syndrome, Congenital, 19	Facial palsy, Micrognathia, Distal joint laxity, High palate, Low-set ears, Increased variability...	OMIM:616720
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Thin upper lip vermilion, Epicanthus, Progressive flexion contractures, Abnormal lo...	ORPHA:522077
Anosmia For Isobutyric Acid	Partial anosmia	OMIM:207000
Aortic Aneurysm, Familial Thoracic 10	Joint laxity, Bicuspid aortic valve, Dental crowding, High palate, Left ventricular hypertrophy, ...	OMIM:617168
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Bifid uterus, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia,...	ORPHA:2736
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, Brachycephaly, Ri...	OMIM:619472
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, Abnormal size of the palpebral ...	ORPHA:3214
Dyskeratosis Congenita, Digenic	Alopecia, Short stature, Sparse eyelashes, Abnormality of the dentition, Bilateral ptosis, Abnorm...	OMIM:620040
Oculopharyngeal Muscular Dystrophy	Abnormal muscle fiber morphology, Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Ptosis	ORPHA:270
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd...	ORPHA:91350
Anosmia For Butyl Mercaptan	Anosmia	OMIM:270350
Anosmia, Isolated Congenital, X-Linked	Anosmia	OMIM:301700
Anosmia, Isolated Congenital	Anosmia	OMIM:107200
Isovaleric Acid, Inability To Smell	Anosmia	OMIM:243450
Estrogen Resistance Syndrome	Osteopenia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gon...	ORPHA:785
Renal Agenesis, Bilateral	Epicanthus, Renal agenesis, Non-midline cleft lip, Depressed nasal ridge, Tracheoesophageal fistu...	ORPHA:1848
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Urinary incontinence, Aggressive behavior, Inappropriate behavior, Disinhibition, A...	OMIM:600795
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D...	ORPHA:275864
Spondyloocular Syndrome	Osteopenia, Retinal detachment, Posteriorly rotated ears, Duodenal ulcer, Unilateral cryptorchidi...	OMIM:605822
Agel Amyloidosis	Tongue atrophy, Proteinuria, Facial palsy, Bilateral ptosis, Xerostomia, Stage 5 chronic kidney d...	ORPHA:85448
Congenital Disorder Of Deglycosylation 1	Narrow face, Oral-pharyngeal dysphagia, Brachycephaly, Chondroitin sulfate excretion in urine, He...	OMIM:615273
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster...	OMIM:158330
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Neurogenic bladder, Optic nerve hypoplasia, Dysphagia, Pachygyria, Abnormal repetitive mannerisms...	ORPHA:572013
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Cryptorchidism, Patent ductus arteriosus, Hamartoma of tongue, Subvalvular aortic stenosis	ORPHA:1338
Chromosome Xp11.3 Deletion Syndrome	Short stature, Cryptorchidism, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenua...	OMIM:300578
Ferguson-Bonni Neurodevelopmental Syndrome	Unilateral ptosis, Premature ovarian insufficiency, Congenital diaphragmatic hernia, Micrognathia...	OMIM:619699
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Hydrocephalus, Gingival overgrowth, Gingivitis, Nephrolithiasis, Peri...	ORPHA:722
Erdheim-Chester Disease	Renal insufficiency, Increased bone mineral density, Hypogonadotropic hypogonadism, Dysuria, Oste...	ORPHA:35687
Joubert Syndrome 30	Ventriculomegaly, Retinal dystrophy, Gray matter heterotopia, Dandy-Walker malformation, Ptosis	OMIM:617622
Visceral Neuropathy, Familial, 2, Autosomal Recessive	Peripheral axonal neuropathy, Sensorineural hearing impairment, Short-segment aganglionic megacol...	OMIM:619465
Orthostatic Hypotension 1	Orthostatic hypotension, Joint hypermobility, Reduced circulating prolactin concentration, Nasal ...	OMIM:223360
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Abnormal mast cell morphology, Cleft palate, Cleft upper lip	ORPHA:398189
Leprechaunism	Skeletal muscle atrophy, Rectal prolapse, Protruding ear, Nephrocalcinosis, Increased circulating...	ORPHA:508
Ochoa Syndrome	Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Microcytic anemia, Short philtrum, Low-set ears, Hypochromic anemia, Midface retrusion, Ptosis	OMIM:618451
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hearing impairment, Protruding tongue, Aggressive behavior, Impulsivity, Tongue thrusting, Extra-...	OMIM:619580
Congenital Ptosis	Congenital Horner syndrome, Unilateral ptosis, Telecanthus, Premature ovarian insufficiency, Cong...	ORPHA:91411
Diamond-Blackfan Anemia 21	Unilateral ptosis, Short stature, Micrognathia, Secundum atrial septal defect, Erythroid hypoplas...	OMIM:620072
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Palatine myxoma, Pituitary adenoma, Schwannoma...	OMIM:160980
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Renal agenesis, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Lateral ve...	OMIM:602200
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Stage 5 chronic kidney disease, Bile ...	OMIM:610688
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Hydrocephalus, Dilat...	ORPHA:398124
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness,...	OMIM:615156
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Depressed nasal bridge, Short palpebral fissure, Protruding tongue, M...	OMIM:619777
Amelocerebrohypohidrotic Syndrome	Abnormality of dental color, Short stature, Abnormal dental enamel morphology, Hydrocephalus, Yel...	ORPHA:1946
Chediak-Higashi Syndrome	Gingivitis, Leukopenia, Periodontitis, Giant neutrophil granules, Neutropenia, Hypopigmentation o...	OMIM:214500
Alexander Disease Type I	Hydrocephalus, Dysphagia	ORPHA:363717
Congenital Myopathy 9A	Cryptorchidism, EMG: myopathic abnormalities, Short stature, Tongue fasciculations	OMIM:618822
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Abnormality of the dentition, Atresia of the external auditory canal, Conductive hearing impairme...	OMIM:221320
Lopes-Maciel-Rodan Syndrome	Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism	OMIM:617435
Holoprosencephaly 3	Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate...	OMIM:142945
Congenital Fibrosis Of Extraocular Muscles	Torticollis, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Congenital sensorineural hear...	ORPHA:45358
Fanconi Anemia, Complementation Group R	Hydrocephalus, Agenesis of permanent teeth, Anemia, Growth delay, Bone marrow hypocellularity, An...	OMIM:617244
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Agenesis of cor...	ORPHA:2273
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Hydrocephalus, Gray matter heterotopia, Tubular l...	OMIM:219730
Isolated Permanent Neonatal Diabetes Mellitus	Peripheral axonal neuropathy, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormalit...	ORPHA:99885
Paroxysmal Hemicrania	Restless legs, Diabetes mellitus, Stiff neck, Palpebral edema, Focal sensory seizure with olfacto...	ORPHA:157835
Cowden Syndrome	Hamartomatous polyposis, High palate, Abnormality of the uterus, Conjunctival hamartoma, Abnormal...	ORPHA:201
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Low-set, posteriorly rotated ears, Frontal bossing, Pancytopenia, Choanal atresia, Hypersplenism,...	ORPHA:228426
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Facial asymmetry	OMIM:613886
Cluster Headache, Familial	Agitation, Ptosis	OMIM:119915
Spinocerebellar Ataxia, Autosomal Recessive 13	Dilated fourth ventricle, Short stature, Ptosis	OMIM:614831
Stt3A-Cdg	Cryptorchidism, Micropenis, Small scrotum	ORPHA:370921
Brittle Cornea Syndrome	Retinal detachment, Abnormality of the dentition, Sensorineural hearing impairment, Osteoporosis,...	ORPHA:90354
Adams-Oliver Syndrome 1	Encephalocele, Alopecia, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, ...	OMIM:100300
Diphallia	Bifid scrotum, Ureteral duplication, Renal malrotation, Rectoperineal fistula, Hypospadias, Atria...	ORPHA:227
Plasminogen Deficiency, Type I	Ventriculomegaly, Duodenal ulcer, Hydrocephalus, Recurrent upper respiratory tract infections, Gi...	OMIM:217090
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Coarse facial features, Joint stiffness, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, A...	ORPHA:2182
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Decreased CSF biopterin level, Reduced bone mineral density, Axonal loss, Decreased CSF protein c...	ORPHA:404454
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Retinopathy of prematuri...	ORPHA:447788
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology, Tinnitus	ORPHA:73256
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Abnormality of retinal pigmentation, Anteverted nares, Short stature, An...	ORPHA:1969
Achondroplasia	Frontal bossing, Limited hip extension, Depressed nasal bridge, Rhizomelia, Generalized joint lax...	OMIM:100800
Webb-Dattani Syndrome	Neurogenic bladder, Short stature, Decreased response to growth hormone stimulation test, Anterio...	OMIM:615926
Dural Sinus Malformation	Papilledema, Pulsatile tinnitus, Myelopathy, Hydrocephalus, Ear pain, Chemosis	ORPHA:97339
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Micrognathia, Protruding ear, Downturned corners of mouth, High palate, Abnormal repet...	OMIM:614756
Xia-Gibbs Syndrome	Depressed nasal bridge, Uplifted earlobe, Micrognathia, Simplified gyral pattern, Protruding ear,...	OMIM:615829
Neurofibromatosis, Type I	Inguinal freckling, Short stature, Spina bifida, Rhabdomyosarcoma, Aqueductal stenosis, Hydroceph...	OMIM:162200
Loeys-Dietz Syndrome 4	Joint laxity, Torticollis, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Hig...	OMIM:614816
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Peripheral axona...	ORPHA:254930
Hijazi-Reis Syndrome	Postnatal growth retardation, Abnormal repetitive mannerisms, Iris coloboma	OMIM:301094
Multiple Synostoses Syndrome 1	Narrow face, Hypoplastic nasal septum, Short philtrum, Conductive hearing impairment, Thick upper...	OMIM:186500
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Congenital Aortic Valve Stenosis	Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocardial fibroelastosis, Left ...	ORPHA:3093
Isolated Complex I Deficiency	Optic disc pallor, Hepatomegaly, Diabetes mellitus, Optic neuropathy, Sensorineural hearing impai...	ORPHA:2609
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm...	OMIM:202150
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Diabetes mellitus, Short stature, Hearing impa...	ORPHA:261265
Spastic Ataxia 5, Autosomal Recessive	Lower limb muscle weakness, Distal amyotrophy, Increased intramyocellular lipid droplets, Dysphag...	OMIM:614487
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Prominent nose, Microcytic anemia, Cardiomegaly, Flexion contracture, El...	OMIM:256040
Combined Oxidative Phosphorylation Deficiency 7	Skeletal muscle atrophy, Optic atrophy, Paralytic ileus, Facial diplegia, Dysphagia, Facial paral...	OMIM:613559
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia	ORPHA:163596
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Ptosis, Facial palsy, Sensorineural...	OMIM:211530
Hermansky-Pudlak Syndrome	Renal insufficiency, Menometrorrhagia, Hypopigmentation of hair, Epistaxis, Abnormal dental ename...	ORPHA:79430
Brittle Cornea Syndrome 1	Joint laxity, Epicanthus, Mitral valve prolapse, Red hair, Dentinogenesis imperfecta, Hearing imp...	OMIM:229200
X-Linked Creatine Transporter Deficiency	Hyperactivity, Aganglionic megacolon, Short stature, Ileus, Joint hyperflexibility, Malar flatten...	ORPHA:52503
Myasthenic Syndrome, Congenital, 4B, Fast-Channel	Weakness of facial musculature, Ptosis	OMIM:616324
Diarrhea 10, Protein-Losing Enteropathy Type	Polyuria, Micrognathia, Pericardial effusion, Cryptorchidism, Recurrent upper respiratory tract i...	OMIM:618183
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Tented upper lip vermilion, Intestinal pseudo-obstruction, Decreased res...	ORPHA:273
Developmental And Epileptic Encephalopathy 6B	Abnormal repetitive mannerisms, Narrow mouth	OMIM:619317
Lowe Oculocerebrorenal Syndrome	Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Abnormal...	OMIM:309000
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Hydrocephalus, Optic atrophy, Gr...	OMIM:612301
Pachydermoperiostosis	Abnormal hair quantity, Hepatomegaly, Coarse facial features, Osteomyelitis, Abnormal fingernail ...	ORPHA:2796
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Bilateral ptosis, Ragged-red muscle fibers, Dysphagia, Lower limb muscle...	OMIM:616479
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Ptosis, Joint stiffness, Achilles tend...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Ptosis, Joint stiffness, Achilles tend...	ORPHA:98853
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Hyperpigmentation of the skin, Inc...	OMIM:202010
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Skeletal muscle atrophy, Abnormal repetitive mannerisms, Disinhibition, Dysphagia	OMIM:612069
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Peripheral axonal neuropathy, Lower limb muscle weakness, Distal amyotrophy, Dysphagia, Abnormal ...	ORPHA:313772
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Ptosis, Ectro...	ORPHA:33001
Intellectual Developmental Disorder, Autosomal Dominant 38	Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Aggressive behavior, Hair-pulling...	OMIM:616393
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Lower limb muscle weakness, Microcytic anemia, Limb-girdle muscle weakne...	OMIM:251900
Robinow-Sorauf Syndrome	Craniosynostosis, Long nose, Bilateral ptosis, Plagiocephaly, Pansynostosis, Shallow orbits, Mala...	OMIM:180750
Purpura Simplex	Menorrhagia, Epistaxis, Ptosis	OMIM:179000
Rett Syndrome, Congenital Variant	Thin upper lip vermilion, Depressed nasal bridge, Bulbous nose, Tongue thrusting, Simplified gyra...	OMIM:613454
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Ptosis, Sensorineural hearing impairment, Tongue fasciculations, Axonal loss	OMIM:618170
Lhermitte-Duclos Disease	Hydrocephalus, Ovarian neoplasm, Macroglossia, Trichilemmoma, Polymicrogyria, Neoplasm of the thy...	ORPHA:65285
Aniridia-Absent Patella Syndrome	Aniridia, Cryptorchidism, Ptosis	ORPHA:1069
Spinocerebellar Ataxia Type 28	Ptosis	ORPHA:101109
Mitochondrial Complex I Deficiency, Nuclear Type 4	Ptosis, Increased CSF lactate	OMIM:618225
Leukodystrophy, Hypomyelinating, 20	Coarse facial features, Torticollis, Hirsutism, Ptosis	OMIM:619071
Glutaric Acidemia I	Hepatomegaly, Ketonuria, Glutaric aciduria, Hydrocephalus, Symmetrical progressive peripheral dem...	OMIM:231670
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Cryptorchidism, Inc...	OMIM:614736
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Thin upper lip vermilion, Epicanthus, Short stature, Bilateral ptosis, Bilateral camptodactyly, S...	OMIM:619557
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Micrognathia, Biliary hyperplasia, Cardiomegaly, Leukopenia, Aminoac...	OMIM:619991
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Type II lissencephaly, Micrognathia, Pachygyria, Retinal degeneration, Hydroceph...	OMIM:253280
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency	Facial palsy, High palate, Dysphagia, Weakness of facial musculature, Ptosis	OMIM:616323
Pituitary Apoplexy	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	ORPHA:95613
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Frontal bossing, Increased urinary glycerol, Short stature, Cryptorchi...	OMIM:307030
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Peripheral axonal neuropathy, Scapular winging, Intestinal pseudo-obstru...	OMIM:607459
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Ptosis, Joint stiffness, Achilles tend...	ORPHA:98863
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Ptosis, Abnormality of the nose, Growth delay, Limb hypertonia, Hypomimic face	ORPHA:70594
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Tongue thrusting, Wide mouth,...	ORPHA:98795
Joubert Syndrome 8	Occipital encephalocele, Optic disc pallor, Hepatomegaly, Pigmentary retinopathy, Ptosis	OMIM:612291
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Bicuspid aortic valve, Micrognathia, Bilateral ptosis, Patent ductus arteriosus, Thick lower lip ...	ORPHA:555877
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Developmental And Epileptic Encephalopathy 18	Atrial septal defect, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis	OMIM:615476
Myasthenic Syndrome, Congenital, 24, Presynaptic	Knee flexion contracture, Distal arthrogryposis, Dysphagia, Camptodactyly, Ptosis	OMIM:618198
Atrial Septal Defect, Ostium Primum Type	Right ventricular dilatation, Left ventricular hypertrophy, Left atrial enlargement, Right atrial...	ORPHA:99106
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Hyposmia, Sensorineural hearing impairment	OMIM:616488
Hermansky-Pudlak Syndrome 1	Renal insufficiency, Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism...	OMIM:203300
Oxoglutaric Aciduria	Skeletal muscle atrophy, Short stature, Hydrocephalus, Abnormal urine alpha-ketoglutarate concent...	ORPHA:31
Wernicke-Korsakoff Syndrome	Ptosis	OMIM:277730
Spinocerebellar Ataxia 50	Ptosis, Froment sign, Hearing impairment	OMIM:620158
Ophthalmoplegia Totalis With Ptosis And Miosis	Ptosis	OMIM:258400
Bardet-Biedl Syndrome 20	Papilledema, Proteinuria, Bilateral cryptorchidism, Atrial septal defect, Male hypogonadism, Micr...	OMIM:619471
Thrombocytopenia, Paris-Trousseau Type	Micrognathia, Pyloric stenosis, Trigonocephaly, Thrombocytopenia, Ptosis	OMIM:188025
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Turricephaly, Micrognathia, Scaphocephaly, Type 1 muscle fiber atrophy, Type ...	OMIM:619036
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Tufted hai...	ORPHA:573278
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Tongue atrophy, Decreased distal sensory nerve action po...	ORPHA:99956
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Sparse scalp hair, Abnormal fingernail morphology, Malar prominence, Long nose, Micrognathia, Joi...	ORPHA:2824
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Hypoglycosylation of alpha-dystroglycan, Ileal atresia, Generalized limb muscle atrophy, Muscular...	OMIM:615351
Ehlers-Danlos Syndrome, Vascular Type	Short stature, Narrow nasal ridge, Cryptorchidism, Cystocele, Foot acroosteolysis, Cervical insuf...	OMIM:130050
Non-Distal Deletion 10Q	Epicanthus, Synophrys, Wide nasal bridge, Upslanted palpebral fissure, Biparietal narrowing, Ptosis	ORPHA:1581
Vater/Vacterl Association	Occipital encephalocele, Abnormal nasopharynx morphology, Ectopic kidney, Patent urachus, Vesicou...	OMIM:192350
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Dilated cardiom...	OMIM:615895
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Lymphadenop...	ORPHA:79477
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation, Numerous congenital melanocyt...	OMIM:249400
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Ptosis, Optic disc pallor, Anemia, Increased CSF lactate	OMIM:615838
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Craniosynostosis With Fibular Aplasia	Cryptorchidism, Craniosynostosis	OMIM:218550
Autosomal Recessive Dopa-Responsive Dystonia	Decreased CSF homovanillic acid concentration, Ptosis	ORPHA:101150
Spinocerebellar Ataxia Type 36	Skeletal muscle atrophy, Tongue atrophy, Ptosis, Vertigo, Tongue fasciculations, Attention defici...	ORPHA:276198
Monosomy 13Q14	Epicanthus, Short stature, Prominent nasal bridge, Trigonocephaly, Micrognathia, Retinoblastoma, ...	ORPHA:1587
Intellectual Disability-Developmental Delay-Contractures Syndrome	Ptosis, Distal amyotrophy, Limitation of joint mobility, Congenital foot contractures	ORPHA:3454
Zygomycosis	Sinusitis, Colitis, Neutropenia, Chemosis, Nephritis, Mediastinal lymphadenopathy, Nasal congesti...	ORPHA:73263
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Ptosis, Macular degeneration, Tortuosity of conjunctival vessels, Leg muscle stiffness	ORPHA:284289
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Cryptorchidism, Thrombocytopenia, Premature graying of hair, Nail dystrophy, Type I d...	OMIM:620365
Sunct Syndrome	Restlessness, Palpebral edema, Ear pain, Nasal congestion, Agitation, Conjunctival hyperemia, Ptosis	ORPHA:57145
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Ptosis, Sensorineural hearing impairment, Dysphagia	OMIM:618098
Machado-Joseph Disease	Dilated fourth ventricle, Distal amyotrophy, Abnormal autonomic nervous system physiology, Dyspha...	OMIM:109150
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Ptosis, Orthostatic hypotension, Esophageal stenosis, Prominent nose, Downturned corners of mouth...	OMIM:615510
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Ventricular septal defect, Optic nerve hypoplasia, Micrognathia, Cryptorchidism, Bu...	OMIM:620025
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Ptosis, Epicanthus, Short stature, Splenomegaly, Increased varia...	OMIM:611881
L1 Syndrome	Aqueductal stenosis, Skeletal muscle atrophy, Hydrocephalus, Aganglionic megacolon	ORPHA:275543
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Cryptorchidism, Neoplasm of th...	ORPHA:2241
Hypermobile Ehlers-Danlos Syndrome	Abnormality of the gingiva, Osteoarthritis, Gingivitis, Microdontia, Vertigo, Gingival overgrowth...	ORPHA:285
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency	Ptosis	ORPHA:324262
Arachnoiditis	Hydrocephalus, Urinary bladder sphincter dysfunction, Tinnitus, Hearing impairment	ORPHA:137817
Mesomelia-Synostoses Syndrome	Microretrognathia, Ptosis, Telecanthus, Convex nasal ridge, Micrognathia, Carpometacarpal synosto...	OMIM:600383
Chédiak-Higashi Syndrome	Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Periodo...	ORPHA:167
Myasthenia Gravis	Hemolytic anemia, Myositis, Hyperthyroidism, Ptosis, Pure red cell aplasia, Primary adrenal insuf...	ORPHA:589
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Proteinuria, Recurrent fractures, Hydrocephalus, Grad...	OMIM:619377
Spinocerebellar Ataxia 28	Lower limb hypertonia, Ragged-red muscle fibers, Ptosis	OMIM:610246
Persistent Müllerian Duct Syndrome	Cryptorchidism, Male pseudohermaphroditism	ORPHA:2856
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Pulmonic stenosis, Attention deficit hyperactivity disorder, Recurrent hand flappi...	OMIM:617600
Phace Syndrome	Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormality of the orbital regi...	ORPHA:42775
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Papilledema, Hydrocephalus	OMIM:260500
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Hypothyroidism, Ptosis	ORPHA:663
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Multiple joint contractures, Depressed nasal bridge, Urinary incontinence, Hair-pu...	ORPHA:447997
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Retinal dystrophy, Hydrocephalus, Muscular dystrophy, Increased variability in muscle fiber diame...	OMIM:616538
Lymphedema-Distichiasis Syndrome	Ectropion, Ventricular septal defect, Micrognathia, Cleft upper lip, Yellow nails, Patent ductus ...	OMIM:153400
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr...	OMIM:261740
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Coarse facial features, Patent ductus arteriosus, Limitation of joint mobility, Osteo...	OMIM:259100
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Hydrocephalus, Optic atrophy, Numerous pigmented freckles, Retinopathy, Hearing im...	ORPHA:220295
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Agitation, Abnormal repetitive mannerisms	ORPHA:927
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Spinocerebellar Ataxia 36	Skeletal muscle atrophy, Tongue atrophy, Ptosis, Tongue fasciculations, Dysphagia, Hearing impair...	OMIM:614153
Autism, Susceptibility To, 3	Restrictive behavior, Ketonuria, Increased serum serotonin, Abnormal repetitive mannerisms, Infle...	OMIM:608049
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Generalized limb muscle atrophy, Facial diplegia, Cardiomyopathy, Lower limb muscle weakness, Foo...	ORPHA:521411
Oculopharyngodistal Myopathy 1	Ptosis, Autophagic vacuoles, Facial palsy, Bilateral ptosis, Sensorineural hearing impairment, Di...	OMIM:164310
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Sinusitis, ...	OMIM:102700
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Hydrocephalus...	OMIM:231005
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Patent duc...	ORPHA:3427
Basal Cell Nevus Syndrome 2	Vertigo, Frontal bossing, Hydrocephalus, Neurofibroma	OMIM:620343
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Facial palsy, Dysphagia, Arthrogryposis multiplex congenita, Ptosis	OMIM:617143
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Low-set, posteriorly rotated ears, Highly arched eyebrow, Brachycephaly, Upslanted palpebral fiss...	ORPHA:2988
Ermine Phenotype	Hypopigmentation of hair, Short stature, Abnormality of the nose, Sensorineural hearing impairmen...	ORPHA:999
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Aggressive behavior, Obsessive-compulsive trait, Abnormal repetitive mannerisms, R...	ORPHA:168491
Loeys-Dietz Syndrome 1	Joint laxity, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Micrognathia, Cr...	OMIM:609192
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Sinusitis, Aplasia of ...	ORPHA:83471
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Ptosis, Alopecia, Abnormal dental enamel morphology, Hyperconvex fingernails, Myopathy, Hypoplast...	ORPHA:257
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Absent external genitalia, Urethral atresia, Aplasia of the va...	OMIM:271520
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Conjunctivitis, Neutrope...	ORPHA:95455
Large Congenital Melanocytic Nevus	Congenital giant melanocytic nevus, Rhabdomyosarcoma, Hydrocephalus, Hypopigmented skin patches, ...	ORPHA:626
Mckusick-Kaufman Syndrome	Hydroureter, Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, ...	OMIM:236700
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Ptosis, Sensorineural hearing impairment, Neurogenic bladder, Dysphagia	OMIM:615911
Menkes Disease	Hypopigmentation of hair, Osteomyelitis, Recurrent fractures, Tarsal synostosis, Micrognathia, Ma...	ORPHA:565
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb muscle weakness, Hydrocephalus, Optic atrophy, Homocystinuria, Ventriculomegaly	ORPHA:395
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Faciocardiomelic Syndrome	Osteopenia, Ptosis, Telecanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Dental m...	OMIM:612731
Rett Syndrome	Skeletal muscle atrophy, Increased CSF lactate, Agitation, Abnormal autonomic nervous system phys...	ORPHA:778
Parkinson Disease 8, Autosomal Dominant	Hyposmia	OMIM:607060
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Glutaric aciduria, Vertigo, Chronic kidney disease, Retinal hemorrha...	ORPHA:25
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis,...	ORPHA:3109
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
Thoracic Dysplasia-Hydrocephalus Syndrome	Conductive hearing impairment, Depressed nasal ridge, Communicating hydrocephalus, Short stature	ORPHA:1861
Testicular Agenesis	Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist...	ORPHA:325124
Autosomal Recessive Ataxia, Beauce Type	Skeletal muscle atrophy, Urinary incontinence, Chronic axonal neuropathy, Lower limb muscle weakn...	ORPHA:88644
Abetalipoproteinemia	Osteopenia, Reticulocytosis, Hepatomegaly, Abnormality of retinal pigmentation, Hypopigmentation ...	ORPHA:14
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Spontaneous hemolytic crises, Short stature, Postnatal growth retard...	ORPHA:168577
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia	ORPHA:3016
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Unilateral renal agenesis, Postnatal growth retardation, Dilatation of ...	ORPHA:90348
Iatrogenic Botulism	Orthostatic hypotension, Xerostomia, Urinary retention, Dysphagia, Ptosis	ORPHA:254509
Hydroxykynureninuria	Stomatitis, Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms, Renal tu...	ORPHA:79155
Oculogastrointestinal Muscular Dystrophy	Spontaneous esophageal perforation, Skeletal muscle atrophy, Intestinal pseudo-obstruction, Malab...	ORPHA:1876
Medulloblastoma	Vertigo, Hydrocephalus, Adenomatous colonic polyposis, Bilateral sensorineural hearing impairment...	ORPHA:616
Hydatidiform Mole	Hyperthyroidism, Menometrorrhagia, Enlarged uterus, Anemia	ORPHA:99927
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Torticollis, Ptosis	OMIM:618155
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Endocardial fibroelastosis	OMIM:600559
Holoprosencephaly 4	Ptosis, Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal ...	OMIM:142946
Malignant Atrophic Papulosis	Intestinal fistula, Abnormal pericardium morphology, Intestinal perforation, Vertigo, Abnormal op...	ORPHA:679
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Ptosis, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Joint stiffness	ORPHA:2064
Omphalocele Syndrome, Shprintzen-Goldberg Type	Thin upper lip vermilion, Telecanthus, Abnormal eyelash morphology, Downturned corners of mouth, ...	ORPHA:3164
Kawasaki Disease	Pericarditis, Abnormality of nail color, Proteinuria, Abnormal heart valve morphology, Recurrent ...	ORPHA:2331
Myasthenia Gravis	Facial palsy, Abnormality of the endocrine system, Thymoma, Dysphagia, Limb muscle weakness, Ptosis	OMIM:254200
Tibial Hemimelia	Hypospadias, Tarsal synostosis, Cryptorchidism, Myelomeningocele, Radial club hand, Cleft palate,...	ORPHA:93322
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Urinary incontinence	OMIM:236690
Shprintzen Omphalocele Syndrome	Epicanthus, Short stature, Flared nostrils, Wide nasal bridge, Hypoplasia of the pharynx, Short c...	OMIM:182210
Adult Intestinal Botulism	Ptosis	ORPHA:178487
Loeys-Dietz Syndrome 2	Joint laxity, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Micrognathia, Cr...	OMIM:610168
Aromatic L-Amino Acid Decarboxylase Deficiency	Ptosis, Torticollis, Tongue thrusting, Nasal congestion, Blepharospasm, Decreased CSF homovanilli...	OMIM:608643
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence	Ptosis	OMIM:609612
Singleton-Merten Syndrome 1	Osteopenia, Cardiomegaly, Hypoplasia of the maxilla, Eruption failure, Muscle fiber atrophy, Shor...	OMIM:182250
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Short stature, Duodenal atresia	ORPHA:3004
Good Syndrome	Abnormal leukocyte morphology, Recurrent urinary tract infections, Diabetes mellitus, Sinusitis, ...	ORPHA:169105
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Nmda Receptor Encephalitis	Ovarian teratoma, Orthostatic hypotension, Orthostatic tachycardia, Neoplasm of the thymus, CSF p...	ORPHA:217253
Multisystemic Smooth Muscle Dysfunction Syndrome	Intestinal malrotation, Cryptorchidism, Patent ductus arteriosus, Retinal infarction, Atrial sept...	OMIM:613834
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Attention deficit hyperactivity disorder, Dilated third ventricle, Abnormal repetitive mannerisms...	OMIM:619725
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Dysplastic corpus callosum, Ragged-red muscle fibers, Cleft palate, Agenesis of cor...	OMIM:614924
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Abnormal vestibular function, Intestinal pseudo-obstruction, Dilated cardiomyopathy, Ragged-red m...	ORPHA:70595
Ophthalmoplegia, Familial Total, With Iris Transillumination	Ptosis	OMIM:165098
Schneckenbecken Dysplasia	Abnormal fingernail morphology, Hypoplastic toenails, Cryptorchidism, Advanced tarsal ossificatio...	ORPHA:3144
Capillary Malformation-Arteriovenous Malformation	Neurogenic bladder, Epistaxis, Abnormality of the musculature of the limbs, Hydrocephalus, Abnorm...	ORPHA:137667
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms, Urinary incontinence	ORPHA:168782
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Ptosis, Chronic noninfectious lymphadenopathy, Anorexia, Increased serum serotonin,...	ORPHA:100085
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ptosis, Restlessness, Agitation, Dysphagia	ORPHA:13
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Retinal detachment, Ptosis, Dental crowding, Depressed nasal bridge, Ep...	OMIM:225400
Miller Fisher Syndrome	Facial palsy, CSF pleocytosis, Dysphagia, Increased CSF protein concentration, Ptosis	ORPHA:98919
Pyruvate Dehydrogenase E2 Deficiency	Ptosis	OMIM:245348
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Ptosis, Myopathy, Dysphagia, Hearing impairment	OMIM:613077
Loeys-Dietz Syndrome	Camptodactyly of finger, Craniosynostosis, Micrognathia, Patent ductus arteriosus, Orofacial clef...	ORPHA:60030
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Ptosis, Facial palsy, Dysphagia	OMIM:607483
Pontine Tegmental Cap Dysplasia	Ptosis, Sensorineural hearing impairment, Facial palsy, Dysphagia	OMIM:614688
Infant Botulism	Anorexia, Xerostomia, Keratoconjunctivitis sicca, Dysphagia, Chronic otitis media, Ptosis	ORPHA:178478
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Depressed nasa...	ORPHA:3003
Sacral Defect With Anterior Meningocele	Myeloschisis, Neurogenic bladder, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus trac...	OMIM:600145
Isolated Posterior Meningocele	Hydrocephalus, Meningocele, Lipomyelomeningocele, Enuresis, Neural tube defect, Occipital meningo...	ORPHA:268810
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Coarse facial features, Aggressive behavior, Attention deficit hyperactivity disor...	OMIM:610042
Multiple System Atrophy 1, Susceptibility To	Skeletal muscle atrophy, Orthostatic hypotension, Urinary incontinence, Urinary urgency, Impotenc...	OMIM:146500
Foodborne Botulism	Ptosis, Urinary retention, Xerostomia, Dysphagia	ORPHA:228371
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Ptosis, Facial palsy, CSF pleocytosis, Abnormality of ...	ORPHA:79138
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Ptosis, Brittle hair, Ragged-red muscle fibers, Rhabdomyolysis, Lacticaciduria, Tubulointerstitia...	OMIM:124000
Intestinal Botulism	Ptosis, Xerostomia, Dysphagia	ORPHA:178481
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Limb muscle weakness, Facial palsy, Ptosis	OMIM:610131
Wound Botulism	Ptosis, Urinary retention, Dysphagia	ORPHA:178475
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Chronic sinusitis, Noncommunicating hydrocephalus, ...	OMIM:618699
Aniridia 1	Hypoplasia of the fovea, Optic nerve hypoplasia, Bilateral ptosis, Chorioretinal hypopigmentation...	OMIM:106210
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Niemann-Pick Disease, Type C2	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Dysphagia, Abnormal r...	OMIM:607625
Kosaki Overgrowth Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Wide nasal bridge, Xanthelasma, Downslanted pal...	OMIM:616592
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Growth delay, Ketonuria, Ptosis	OMIM:615453
Brain Dopamine-Serotonin Vesicular Transport Disease	Ptosis, Hypomimic face	ORPHA:352649
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin...	OMIM:620303
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Abnormal repetitive mannerisms, Urinary incontinence, Attention deficit hyperactivity disorder	ORPHA:98784
Inhalational Botulism	Urinary retention, Xerostomia, Ptosis	ORPHA:254504
Dystonia 34, Myoclonic	Torticollis, Ptosis	OMIM:619724
Gjc2-Related Late-Onset Primary Lymphedema	Ptosis, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel morphology	ORPHA:568051
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Malabsorption, Intestinal perforation, Sensor...	OMIM:603041
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Coarse facial features, Proximal phalangeal periosteal thickening, Gastric hypertrophy, Foot acro...	OMIM:161700
Developmental And Epileptic Encephalopathy 2	Abnormal repetitive mannerisms, Thick lower lip vermilion, Anteverted nares	OMIM:300672
Toxin-Mediated Infectious Botulism	Ptosis, Dysphagia	ORPHA:230800
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Ptosis	OMIM:277320
Myasthenia, Limb-Girdle, Autoimmune	Thymoma, Proximal amyotrophy, Type 2 muscle fiber atrophy, Hashimoto thyroiditis, Ptosis	OMIM:159400
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Malabsorption, Sensorineural hearing impairment, Steatorrhea, Ptosis	ORPHA:3217
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Ptosis, Periosteal thickening of long tubular bones, Elevated urinary prostaglandin E2 level	OMIM:167100
Isolated Congenital Alacrima	Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Ptosis	ORPHA:91416
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Retinal arteriolar tortuosity, Hydrocephalus, Retinal hemorrhage, Peripapillary...	OMIM:175780
Tukel Syndrome	Carpal synostosis, Congenital fibrosis of extraocular muscles, Ptosis	OMIM:609428
Ophthalmoplegia, Familial Static	Ptosis	OMIM:165000
Myasthenic Syndrome, Congenital, 21, Presynaptic	Ptosis, Weakness of facial musculature, Meconium ileus, Knee flexion contracture	OMIM:617239
Visual Impairment And Progressive Phthisis Bulbi	Ptosis	OMIM:618283

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.

There is no histopathology data for Arb2a

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 Arb2a.

No publications found that use IMPC mice or data for Arb2a.

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MGI Allele	Allele Type	Produced
Arb2a^{em1(IMPC)Mhzh}	Indel	Mice
Arb2a^{em2(IMPC)Ccpcz}	Indel	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: Arb2a MGI:1915925

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Human diseases caused by Arb2a mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data