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Gene: Arb2a MGI:1915925

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Gene Summary

Name:
ARB2 cotranscriptional regulator A
Synonyms:
Fam172a,  53-E6,  2610318O14Rik,  9430037D06Rik,  pEN87,  1110033M05Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged thymus Arb2aem2(IMPC)Ccpcz HOM Early adult 0.00
abnormal freezing behavior Arb2aem2(IMPC)Ccpcz HOM   Early adult 9.11×10-07
increased circulating aspartate transaminase level Arb2aem2(IMPC)Ccpcz HOM Early adult 4.76×10-05
abnormal thymus morphology Arb2aem2(IMPC)Ccpcz HOM Early adult 0.00
decreased liver weight Arb2aem2(IMPC)Ccpcz HOM Early adult 1.61×10-05
decreased Ly6C-positive NK T cell number Arb2aem2(IMPC)Ccpcz HOM Early adult 3.09×10-07
abnormal liver morphology Arb2aem2(IMPC)Ccpcz HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

34 Images

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X-ray

XRay Images Whole Body Dorso Ventral

34 Images

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X-ray

XRay Images Whole Body Lateral Orientation

17 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

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X-ray

XRay Images Forepaw

17 Images

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X-ray

XRay Images Skull Lateral Orientation

17 Images

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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.

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 Similarity of
phenotypes		 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
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Micro Syndrome
Micrognathia, Cryptorchidism, Generalized hirsutism, High palate, Macrotia, Short nose, Low-set, ... ORPHA:2510
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Low-set ears, Micrognathia, Cryptorchidism, Radioulnar synostosis, Blepharophimosis, Hypospadias,... ORPHA:171839
Kapur-Toriello Syndrome
Low-set ears, Joint contracture of the hand, Cryptorchidism, Ventricular septal defect, Low poste... OMIM:244300
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
46,Xy Sex Reversal 4
Recurrent otitis media, Micrognathia, Sensorineural hearing impairment, Hypoplastic labia majora,... OMIM:154230
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Bresek Syndrome
Low-set ears, Renal hypoplasia, Plagiocephaly, Alopecia, Hearing impairment, Hypoplasia of the bl... ORPHA:85284
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Low-set ears, Ventricular hypertrophy, Recurrent otitis media, Underdeveloped tragus, Pancytopeni... OMIM:620654
Endocrine-Cerebroosteodysplasia
Low-set ears, Small scrotum, Natal tooth, Focal polymicrogyria, Thick upper lip vermilion, Microg... OMIM:612651
Emanuel Syndrome
Low-set ears, Aortic valve stenosis, Tooth malposition, Hearing impairment, Recurrent otitis medi... ORPHA:96170
Pelvis-Shoulder Dysplasia
Hydranencephaly, Short palpebral fissure, Microglossia, Camptodactyly of finger, Retinal coloboma... ORPHA:2839
Kapur-Toriello Syndrome
Low-set ears, Iris coloboma, Atresia of the external auditory canal, Retinal coloboma, Tetralogy ... ORPHA:2328
Joubert Syndrome With Ocular Defect
Highly arched eyebrow, Iris coloboma, Abnormality of the hypothalamus-pituitary axis, Retinal col... ORPHA:220493
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Renal hypoplasia, Hearing impairment, Hypogonadism, External genital hypo... OMIM:615996
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hearing impairment, Micrognathia, Ventricular septal defect, Agenesis of corpus callosum, Bicuspi... ORPHA:508498
7P22.1 Microduplication Syndrome
Abnormality of the outer ear, Abnormal heart morphology, Cryptorchidism, Abnormal facial shape, A... ORPHA:314034
Emanuel Syndrome
Low-set ears, Aortic valve stenosis, Hearing impairment, Recurrent otitis media, Micrognathia, Cr... OMIM:609029
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Joint contracture of the hand, Chorioretinal coloboma, Open mouth, Ventricular septal defect, Epi... OMIM:280000
Chromosome 13Q33-Q34 Deletion Syndrome
Hearing impairment, Micrognathia, Open mouth, Encephalocele, Cryptorchidism, Agenesis of corpus c... OMIM:619148
Intellectual Developmental Disorder, Autosomal Dominant 72
Low-set ears, Renal hypoplasia, Bulbous nose, Facial hypotonia, Overfriendliness, Thin upper lip ... OMIM:620439
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Chorioretinal coloboma, Postnatal growth ... ORPHA:138
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Low-set ears, Wide nasal bridge, Microretrognathia, Horizontal eyebrow, Cleft lip, Downturned cor... OMIM:618571
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Hypoplasia of the bladder, Growth delay, R... ORPHA:139466
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Low-set ears, Hearing impairment, Recurrent otitis media, Open mouth, Cryptorchidism, Ventricular... OMIM:618494
Meier-Gorlin Syndrome 8
Low-set ears, Nephroptosis, Bilateral cryptorchidism, Intrauterine growth retardation, Unilateral... OMIM:617564
Orofaciodigital Syndrome Xiv
Low-set ears, Occipital encephalocele, Natal tooth, Micrognathia, Cryptorchidism, Ventricular sep... OMIM:615948
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse pubic hair, Decreased testicular size, Cryptorchidism, Abnormality of the sense of smell, ... OMIM:146110
Marden-Walker Syndrome
Low-set ears, Joint contracture of the hand, Decreased muscle mass, Postnatal growth retardation,... OMIM:248700
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Ventricula... OMIM:194190
Developmental Delay With Or Without Dysmorphic Facies And Autism
Low-set ears, Small scrotum, Hearing impairment, Small nail, Supernumerary nipple, Micrognathia, ... OMIM:618454
Charge Syndrome
Low-set ears, Square face, Lymphopenia, Postnatal growth retardation, Micrognathia, Cryptorchidis... OMIM:214800
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Joint contracture of the hand, Micrognathia, Narrow mouth, Cryptorchidism, Joint co... ORPHA:352490
Weiss-Kruszka Syndrome
Low-set ears, Highly arched eyebrow, Abnormality of the outer ear, Hearing impairment, Downslante... ORPHA:502430
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Low-set ears, Pancytopenia, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Epica... ORPHA:85321
Hadziselimovic Syndrome
Low-set ears, Ventricular hypertrophy, Renal hypoplasia, Thick lower lip vermilion, Tetralogy of ... OMIM:612946
Johnson Neuroectodermal Syndrome
Carious teeth, Atresia of the external auditory canal, Absent eyelashes, Absent eyebrow, Everted ... ORPHA:2316
Burn-Mckeown Syndrome
Hearing impairment, Bilateral choanal atresia/stenosis, Micrognathia, Narrow mouth, Ventricular s... OMIM:608572
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Retinal coloboma, Hypogonadism, Cryptorchidism, Hydrocephalus, Rod-cone dystrophy OMIM:601794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Pigmentary retinopathy, Ventriculomegaly, Open mouth, Cryptorchidism, Left ve... OMIM:613156
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Giant platelets, Lateral ventricle dilatation, Postnatal growth retardation, Microg... OMIM:611209
Treacher-Collins Syndrome
Small scrotum, Short face, Abnormal hair morphology, Open bite, Micrognathia, Narrow mouth, Encep... ORPHA:861
Lessel-Kubisch Syndrome
Renal hypoplasia, Sparse pubic hair, Premature graying of hair, Hypogonadism, Narrow nasal bridge... OMIM:618681
Bowen-Conradi Syndrome
Ventriculomegaly, Camptodactyly of finger, Joint stiffness, Prominent nose, Micrognathia, Cryptor... ORPHA:1270
Even-Plus Syndrome
Severe short stature, Highly arched eyebrow, Depressed nasal ridge, Bifid nasal tip, Renal hypopl... OMIM:616854
Peters-Plus Syndrome
Low-set ears, Facial hypertrichosis, Hearing impairment, Postnatal growth retardation, Micrognath... OMIM:261540
Apert Syndrome
Sensorineural hearing impairment, Agenesis of corpus callosum, Cloverleaf skull, Flat face, Hypop... ORPHA:87
Peroxisome Biogenesis Disorder 2A (Zellweger)
Clitoral hypertrophy, Abnormal helix morphology, Joint contracture of the hand, Micrognathia, Cry... OMIM:214110
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Hearing impairment, Postnatal growth retardation, Micrognathia, Sensorineural hearing impairment,... OMIM:300749
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Wide nasal bridge, Depressed nasal bridge, Renal hypoplasia, Downslanted palpebral fissures, Micr... ORPHA:2256
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Anosmia, Osteopenia, Cleft upper lip, Tooth agenesis, Cryptorchidism, Sensorineu... OMIM:147950
Pseudotrisomy 13 Syndrome
Low-set ears, Encephalocele, Cryptorchidism, Ventricular septal defect, Agenesis of corpus callos... OMIM:264480
Duane-Radial Ray Syndrome
Sensorineural hearing impairment, Ventricular septal defect, Epicanthus, Slit-like opening of the... OMIM:607323
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, Ventricular septal defect, Epicanthus, Self-biting, High palate, Motor stereotypy... ORPHA:3306
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Cornelia De Lange Syndrome 1
Low-set ears, Micrognathia, Cryptorchidism, Congenital diaphragmatic hernia, Sensorineural hearin... OMIM:122470
Baraitser-Winter Syndrome 1
Low-set ears, Aortic valve stenosis, Chorioretinal coloboma, Postnatal growth retardation, Crypto... OMIM:243310
Holoprosencephaly
Chorioretinal coloboma, Abnormality of the spleen, Encephalocele, Cryptorchidism, Abnormal antihe... ORPHA:2162
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Hearing impairment, Fine hair, Downslanted palpebral fissures, Downturned corne... OMIM:616817
Uruguay Faciocardiomusculoskeletal Syndrome
Low-set ears, Ventricular hypertrophy, Joint contracture of the hand, Hyperplasia of the maxilla,... OMIM:300280
Campomelic Dysplasia
Low-set ears, Delayed epiphyseal ossification, Carious teeth, Hearing impairment, Contracture of ... OMIM:114290
Orofaciodigital Syndrome Xvii
Low-set ears, High, narrow palate, Renal hypoplasia, Ventriculomegaly, Hearing impairment, Retrog... OMIM:617926
Branchiooculofacial Syndrome
Low-set ears, Hearing impairment, Supernumerary nipple, Premature graying of hair, Ectopic thymus... OMIM:113620
Verheij Syndrome
Square face, Branchial cyst, Ventricular septal defect, Short nose, Broad nasal tip, Renal agenes... OMIM:615583
Cornelia De Lange Syndrome 5
Hearing impairment, Postnatal growth retardation, Micrognathia, Cryptorchidism, High palate, Broa... OMIM:300882
Congenital Disorder Of Deglycosylation 2
Highly arched eyebrow, Macroglossia, Ventriculomegaly, Hearing impairment, Retinal coloboma, Hama... OMIM:619775
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cervical myelopathy, Depressed nasal bridge, Abnormal auditory evoked potentials, Growth delay, A... OMIM:619260
Van Maldergem Syndrome 2
Hearing impairment, Atresia of the external auditory canal, Micrognathia, Cryptorchidism, Irregul... OMIM:615546
Hydrolethalus
Low-set ears, Bifid uvula, Gingival cleft, Retrognathia, Unilateral cleft lip, Low-set, posterior... ORPHA:2189
Chromosome 3Pter-P25 Deletion Syndrome
Low-set ears, Hearing impairment, Postnatal growth retardation, Micrognathia, Cryptorchidism, Epi... OMIM:613792
Cach Syndrome
Optic atrophy, Renal hypoplasia, Growth delay, Lateral ventricle dilatation, Gonadal dysgenesis, ... ORPHA:135
Cardiocranial Syndrome, Pfeiffer Type
Low-set ears, Contracture of the proximal interphalangeal joint of the 2nd finger, Micrognathia, ... ORPHA:2872
Oliver-Mcfarlane Syndrome
Severe short stature, Pigmentary retinopathy, Distal amyotrophy, Alopecia, Central heterochromia,... OMIM:275400
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Osteopenia, Abnormality of the dentition, Hearing impairment, Hypogonadotropic hypogonadism, Hypo... OMIM:615266
Vici Syndrome
Low-set ears, Everted upper lip vermilion, Lymphopenia, Postnatal growth retardation, Micrognathi... OMIM:242840
Mosaic Trisomy 20
Craniofacial asymmetry, Cleft lip, Hearing impairment, Retrognathia, Horseshoe kidney, Intrauteri... ORPHA:1724
Trisomy 4P
Depressed nasal bridge, Abnormality of the dentition, Carious teeth, Camptodactyly of finger, Low... ORPHA:1738
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... OMIM:400044
Otodental Syndrome
Carious teeth, Periodontitis, Lens coloboma, Iris coloboma, Long face, Abnormality of canine, Pro... ORPHA:2791
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Hypogonadism, External genital hypoplasia, Cryptorchidism, Rod-cone dystrophy ORPHA:363741
Warburg Micro Syndrome 1
Low-set ears, Optic atrophy, Wide nasal bridge, Facial hypertrichosis, Hypertrichosis, External g... OMIM:600118
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Lateral ventricle dilatation, Postnatal growth retard... ORPHA:96148
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Cerebrofacioarticular Syndrome
Bilateral choanal atresia/stenosis, Absence of pubertal development, Micrognathia, Narrow mouth, ... ORPHA:314679
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Abnormal antihelix morphology, Cryptorchidism, Hearing impairment, Chorioretinal coloboma OMIM:274205
Trisomy 17P
Low-set ears, Aortic valve stenosis, Hearing impairment, Micrognathia, Narrow mouth, Low posterio... ORPHA:261290
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Hearing impairment, Cryptorchidism, Low posterior hairline, Epicanthus, Short nose... ORPHA:2701
8P11.2 Deletion Syndrome
Micrognathia, Cryptorchidism, Mitral valve prolapse, Epicanthus, Spherocytosis, Blepharophimosis,... ORPHA:251066
7Q31 Microdeletion Syndrome
Low-set ears, Postnatal growth retardation, Epicanthus, Atrial septal defect, Torticollis, Dyspha... ORPHA:251061
Weiss-Kruszka Syndrome
Low-set ears, Hearing impairment, Ventricular septal defect, Agenesis of corpus callosum, Epicant... OMIM:618619
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Flat face, Depressed nasal ridge, Renal hypoplasia, Retrognathia, Long philtrum, Anteverted nares... ORPHA:464288
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Distal Duplication 6P
Low-set ears, Aplasia/Hypoplasia of the earlobes, Renal hypoplasia, Abnormality of the urinary sy... ORPHA:1745
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Albinism-Deafness Syndrome
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism OMIM:300700
Noonan Syndrome 8
Low-set ears, Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Cryptorchidism, Ventri... OMIM:615355
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Low-set ears, Hearing impairment, Frontal upsweep of hair, Cryptorchidism, Open mouth, Ventricula... ORPHA:369891
Momo Syndrome
Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Downslanted pal... OMIM:157980
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Sensorineural hearing impairment, Hematuria... OMIM:120330
Chromosome 3Q13.31 Deletion Syndrome
Low-set ears, Ventriculomegaly, Plagiocephaly, Alobar holoprosencephaly, Downslanted palpebral fi... OMIM:615433
Congenital Hydrocephalus
Iris coloboma, Optic atrophy, Abnormal cortical gyration, Ventriculomegaly, Downslanted palpebral... ORPHA:2185
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia, Unilateral renal agenesis, Hearing impairment, Cleft upper lip, Cryptorchidism, Hypogona... OMIM:244200
Fraser Syndrome 1
Low-set ears, Clitoral hypertrophy, Atresia of the external auditory canal, Small nail, Abnormal ... OMIM:219000
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Low-set ears, Depressed nasal bridge, Ventriculomegaly, Retinal coloboma, Hamartoma of tongue, Po... OMIM:616546
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Low-set ears, Hearing impairment, Cryptorchidism, Congenital diaphragmatic hernia, Decreased numb... OMIM:617641
22Q11.2 Deletion Syndrome
Low-set ears, Carious teeth, Hearing impairment, Hypopigmented skin patches, Micrognathia, Narrow... ORPHA:567
Caudal Appendage-Deafness Syndrome
Short stature, Abnormal facial shape, Cryptorchidism, Infantile sensorineural hearing impairment ORPHA:1123
Macrocephaly, Acquired, With Impaired Intellectual Development
Sparse eyebrow, Ventriculomegaly, Long philtrum, Downslanted palpebral fissures, Narrow nasal bri... OMIM:618286
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Low-set ears, Wide nasal bridge, Broad alveolar ridges, Delayed eruption of... ORPHA:2863
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Low-set ears, Hypoplasia of the bladder, Cleft lip, Renal agenesis, Intrauterine growth retardati... OMIM:611812
Blepharophimosis-Impaired Intellectual Development Syndrome
Low-set ears, Cryptorchidism, Overfriendliness, Sparse eyelashes, Epicanthus, Blepharophimosis, N... OMIM:619293
Coffin-Siris Syndrome 2
Hearing impairment, Small nail, Cryptorchidism, Dandy-Walker malformation, High palate, Abnormal ... OMIM:614607
Microcephaly 16, Primary, Autosomal Recessive
Telecanthus, Micrognathia, Open mouth, Cryptorchidism, Knee flexion contracture, Agenesis of corp... OMIM:616681
Alazami-Yuan Syndrome
Highly arched eyebrow, Dental crowding, Underdeveloped nasal alae, Long philtrum, Long eyelashes,... OMIM:617126
Ayme-Gripp Syndrome
Low-set ears, Hearing impairment, Narrow mouth, Sensorineural hearing impairment, Radioulnar syno... OMIM:601088
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Anosmia, Cleft lip, Cryptorchidism, Sensorineural hearing impairment, Hypo... OMIM:612702
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Ventriculomegaly, Broad nasal tip, Horizontal eyebrow, Diastema, Decre... OMIM:609757
Orofaciodigital Syndrome Type 14
Dilated third ventricle, Ventricular septal defect, Patent ductus arteriosus, Epispadias, Accesso... ORPHA:434179
Ritscher-Schinzel Syndrome 1
Low-set ears, Aortic valve stenosis, Micrognathia, Ventricular septal defect, Low posterior hairl... OMIM:220210
1Q21.1 Microduplication Syndrome
Hypospadias, Frontal bossing, Tetralogy of Fallot, Cryptorchidism, Attention deficit hyperactivit... ORPHA:250994
Leopard Syndrome 1
Low-set ears, Cryptorchidism, Aplasia of the ovary, Sensorineural hearing impairment, Mitral valv... OMIM:151100
Mosaic Trisomy 16
Craniofacial asymmetry, Meckel diverticulum, Hearing impairment, Abnormality of the nose, Anterio... ORPHA:1708
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal earlobe morphology, Recurrent otitis media, Open mouth, Cryptorchidism, Sensorineural he... ORPHA:500159
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Infancy onset short-trunk short stature, Square face, Branchial cyst... ORPHA:508488
Chime Syndrome
Abnormality of the outer ear, Acute leukemia, Hearing impairment, Ventricular septal defect, Epic... ORPHA:3474
Kallmann Syndrome
Decreased fertility, Cryptorchidism, Sensorineural hearing impairment, Primary amenorrhea, Renal ... ORPHA:478
Short Stature, Microcephaly, And Endocrine Dysfunction
Tooth malposition, Lymphopenia, Cryptorchidism, Sensorineural hearing impairment, Micropenis, Lon... OMIM:616541
3C Syndrome
Low-set ears, Aortic valve stenosis, Chorioretinal coloboma, Postnatal growth retardation, Microg... ORPHA:7
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Small nail, Micrognathia, Cryptorchidism, Ovarian cyst, Epicanthus,... OMIM:614527
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Non-Distal Duplication 10Q
Depressed nasal bridge, Abnormality of the urinary system, Downslanted palpebral fissures, Low-se... ORPHA:1695
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... ORPHA:998
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Choanal atresia, Cleft lip, Abnormal heart morphology, P... ORPHA:91412
Mosaic Trisomy 14
Wide nasal bridge, Frontal bossing, Low-set, posteriorly rotated ears, Camptodactyly of finger, A... ORPHA:1703
Mowat-Wilson Syndrome
Aortic valve stenosis, Tooth malposition, Multicystic kidney dysplasia, Recurrent otitis media, O... ORPHA:2152
Chromosome 2P16.1-P15 Deletion Syndrome
Low-set ears, Joint contracture of the hand, Hearing impairment, Postnatal growth retardation, Cr... OMIM:612513
Renpenning Syndrome 1
Joint contracture of the hand, Hearing impairment, Micrognathia, Narrow mouth, Ventricular septal... OMIM:309500
Van Maldergem Syndrome 1
Atresia of the external auditory canal, Micrognathia, Irregular dentition, Sensorineural hearing ... OMIM:601390
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Depressed nasal bridge, Renal hypoplasia, Alopecia, Coarse hair, Long philtrum, Anteverted nares,... ORPHA:75389
8Q21.11 Microdeletion Syndrome
Low-set ears, Hearing impairment, Micrognathia, Narrow mouth, Cryptorchidism, Epicanthus, Round f... ORPHA:284160
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Intellectual Developmental Disorder, Autosomal Dominant 48
Low-set ears, Lateral ventricle dilatation, Recurrent otitis media, Open mouth, Sensorineural hea... OMIM:617751
Radio-Tartaglia Syndrome
Low-set ears, Hearing impairment, Small nail, Micrognathia, Ventricular septal defect, Agenesis o... OMIM:619312
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Hearing impairment, Optic disc coloboma, Retinal ... ORPHA:1475
Coffin-Siris Syndrome 1
Low-set ears, Clitoral hypertrophy, Facial hypertrichosis, Dry hair, Hearing impairment, Postnata... OMIM:135900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Ventriculomegaly, Type II lissencephaly, Agenesis of corpus callosum, Low ant... OMIM:613153
Degcags Syndrome
Low-set ears, Chronic kidney disease, Hearing impairment, Oral-pharyngeal dysphagia, Premature gr... OMIM:619488
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Low-set ears, Focal polymicrogyria, Cryptorchidism, Ventricular septal defect, Epiblepharon, Roun... OMIM:619103
46,Xy Sex Reversal 6
Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Hirsutism, Sparse axillary hair, Chordee,... OMIM:613762
Mogs-Cdg
Hepatosplenomegaly, Sensorineural hearing impairment, Atrial septal defect, Hepatomegaly, High pa... ORPHA:79330
Pierpont Syndrome
Abnormal peripheral nervous system morphology, Hearing impairment, Unilateral narrow palpebral fi... OMIM:602342
Abruzzo-Erickson Syndrome
Flat face, Iris coloboma, Conductive hearing impairment, Chorioretinal coloboma, Cryptorchidism, ... ORPHA:921
Syndromic X-Linked Intellectual Disability 7
Tooth malposition, Sparse body hair, Hypogonadism, Abnormal dental morphology, Cryptorchidism, Mi... ORPHA:85274
15Q24 Microdeletion Syndrome
Wide nasal base, Abnormality of the outer ear, Hearing impairment, Postnatal growth retardation, ... ORPHA:94065
Microphthalmia, Syndromic 9
Low-set ears, Micrognathia, Cryptorchidism, Congenital diaphragmatic hernia, Neonatal death, Vent... OMIM:601186
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Tooth malposition, Multicystic kidney dysplasia, Lateral ventricle dilatat... ORPHA:261537
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Branchial cyst, Sensorineural hearing impairment, Enlarged ves... OMIM:113650
Isolated Atp Synthase Deficiency
Optic atrophy, Renal hypoplasia, Dilated cardiomyopathy, Hypogonadism, Hypertrophic cardiomyopath... ORPHA:254913
Noonan Syndrome
Dilatation of the renal pelvis, Abnormality of the spleen, Postnatal growth retardation, Microgna... ORPHA:648
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Low-set ears, Encephalocele, Abnormal toenail morphology, Hypospadias, Epispadias, Flat occiput, ... ORPHA:2211
Hao-Fountain Syndrome
Low-set ears, Premature adrenarche, Trigonocephaly, Cryptorchidism, Aggressive behavior, Abnormal... OMIM:616863
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Orbital craniosynostosis, Micrognathia, Hydrocephalus, Dolichocephaly, Frontal bos... ORPHA:1538
Intellectual Disability, Wolff Type
Wide nasal bridge, Microretrognathia, Limitation of joint mobility, Non-midline cleft of the uppe... ORPHA:3080
Rere-Related Neurodevelopmental Syndrome
Hearing impairment, Chorioretinal coloboma, Postnatal growth retardation, Micrognathia, Cryptorch... ORPHA:494344
Desmosterolosis
Low-set ears, Abnormal earlobe morphology, Micrognathia, Narrow mouth, Agenesis of corpus callosu... ORPHA:35107
Split-Hand/Foot Malformation 3
Renal hypoplasia, Hypoplasia of the maxilla, Microretrognathia, Ridged nail, Narrow mouth, Nail d... OMIM:246560
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Low-set ears, Hydranencephaly, Microretrognathia, Renal hypoplasia, Ureteral agenesis, Bulbous no... OMIM:236500
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Cleft lip, Decreased testicular size, Hypogonadotropic hypogonadism, Bifid nose, Micrope... OMIM:614838
Smith-Lemli-Opitz Syndrome
Low-set ears, Small scrotum, Hearing impairment, Recurrent otitis media, Micrognathia, Cryptorchi... OMIM:270400
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Tooth malposition, Multicystic kidney dysplasia, Lateral ventricle dilatat... ORPHA:261552
Li-Campeau Syndrome
Low-set ears, Long philtrum, Downslanted palpebral fissures, Hypertrichosis, Telecanthus, Thick e... OMIM:619189
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Renal hypoplasia, Cupped ear, Retrognathia, Lateral ventricle dilatation... OMIM:618914
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Brachyturricephaly, Frontal bossing, Horseshoe kidney, Cryptorchidism, Malar fl... OMIM:218350
Endocardial Fibroelastosis
Abnormal helix morphology, Restrictive cardiomyopathy, Low-set, posteriorly rotated ears, Telecan... ORPHA:2022
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Abnormality of the dentition, Pigmentary retinopathy, Alopecia, Growth delay, Decreased response ... ORPHA:3363
Recombinant Chromosome 8 Syndrome
Low-set ears, Joint contracture of the hand, Hearing impairment, Postnatal growth retardation, Mi... OMIM:179613
Scalp-Ear-Nipple Syndrome
Low-set ears, Lateral ventricle dilatation, Underdeveloped tragus, Epicanthus, Blepharophimosis, ... OMIM:181270
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Low-set ears, Wide nasal bridge, Underdeveloped nasal alae, Downslanted palpebral fissures, Umbil... ORPHA:1516
Orofaciodigital Syndrome Ix
Bifid nasal tip, Abnormality of the dentition, Broad nasal tip, Retinal coloboma, Telecanthus, Me... OMIM:258865
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microretrognathia, Conductive hearing impairment, Renal hypoplasia, Mi... ORPHA:1307
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Renal agenesis, Cryptorchidism OMIM:219050
Distal Deletion 12Q
Low-set ears, Bilateral conductive hearing impairment, Small nail, Prominent ear helix, Micrognat... ORPHA:96149
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Aplasia/Hypoplasia of the earlobes, Narrow mouth, Cryptorchidism, Abnormality of the nail, Clover... ORPHA:1555
22Q11.2 Duplication Syndrome
Hearing impairment, Micrognathia, Displacement of the urethral meatus, Ventricular septal defect,... ORPHA:1727
Perlman Syndrome
Low-set ears, Hyperinsulinemia, Micrognathia, Open mouth, Cryptorchidism, Epicanthus, Round face,... ORPHA:2849
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Low-set ears, Small scrotum, Cryptorchidism, Encephalocele, Agenesis of corpus callosum, Bifid no... ORPHA:228390
Pallister-Hall Syndrome
Natal tooth, Atresia of the external auditory canal, Cryptorchidism, Neonatal death, Ventricular ... OMIM:146510
Fontaine Progeroid Syndrome
Low-set ears, Small scrotum, Aplastic/hypoplastic lacrimal glands, Small nail, Micrognathia, Narr... OMIM:612289
Rauch-Steindl Syndrome
Prominent crus of helix, Postnatal growth retardation, Micrognathia, Epicanthus, Hepatomegaly, Mo... OMIM:619695
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Micrognathia, Open mouth, Sensorineural hearing impairment, Epicanthus, Everted low... OMIM:618342
Dworschak-Punetha Neurodevelopmental Syndrome
Depressed nasal bridge, Cupped ear, Optic disc hypoplasia, Sparse lateral eyebrow, Large earlobe,... OMIM:619955
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Anosmia, Unilateral renal agenesis, Sparse pubic hair, Decreased serum testosteron... OMIM:308700
Meckel Syndrome 12
Low-set ears, Wide nasal bridge, Ureteral hypoplasia, Renal hypoplasia, Bifid uvula, Bilateral re... OMIM:616258
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Hypoplastic female external genitalia, Plagiocephaly, Ventriculomegaly, Long p... OMIM:618577
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Low-set ears, Hearing impairment, Prominent ear helix, Micrognathia, Narrow mouth, Cryptorchidism... OMIM:618659
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Hearing impairment, Abnormal earlobe morphology, Micrognathia, Short lingu... ORPHA:96121
Cri-Du-Chat Syndrome
Low-set ears, Hearing impairment, Premature graying of hair, Cryptorchidism, Overfriendliness, Ep... OMIM:123450
Gordon Syndrome
Limitation of joint mobility, Hearing impairment, Decreased muscle mass, Camptodactyly of finger,... ORPHA:376
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Sparse pubic hair, Abnormality of the Leydig cells, Decreased circulating dihy... OMIM:228300
Pierpont Syndrome
Hearing impairment, Cryptorchidism, Everted lower lip vermilion, Uplifted earlobe, Narrow palpebr... ORPHA:487825
14Q22Q23 Microdeletion Syndrome
Small scrotum, Hearing impairment, Atresia of the external auditory canal, Micrognathia, Cryptorc... ORPHA:264200
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Low-set ears, Aortic valve stenosis, Micrognathia, Agenesis of corpus callosum, Epicanthus, Atria... ORPHA:459061
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Encephalocele, Cryptorchidism, Anal atresia, Patent ductus arteriosus, Macrotia, Spa... OMIM:616300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Low-set ears, Depressed nasal bridge, Hypoplastic left heart, Unilateral renal agenesis, Renal hy... OMIM:617661
Cantu Syndrome
Wide nasal bridge, Depressed nasal bridge, Congenital hypertrophy of left ventricle, Long philtru... OMIM:239850
Developmental And Epileptic Encephalopathy 36
Low-set ears, Optic atrophy, Microretrognathia, Anteverted nares, Self-mutilation, Coarse facial ... OMIM:300884
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Renal hypoplasia, Conductive hearing impairment, Decreased response ... OMIM:609053
Acitretin/Etretinate Embryopathy
Hypoplastic nasal septum, Cupped ear, Atrioventricular canal defect, Anteverted nares, Micrognath... ORPHA:40366
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Anosmia, Osteopenia, Decreased testicular size, Cryptorchidism, Primary am... OMIM:614880
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
48,Xxyy Syndrome
Carious teeth, Open bite, Type II diabetes mellitus, Cryptorchidism, Epicanthus, Radioulnar synos... ORPHA:10
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormality of the dentition, Periodontitis, Hearing impairment, Sparse bod... ORPHA:1008
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Temple Syndrome
Precocious puberty, Depressed nasal bridge, Bifid uvula, Maturity-onset diabetes of the young, Fr... OMIM:616222
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Depressed nasal bridge, Long philtrum, Postnatal growth retardation, Cryptorchidism, Bilateral fa... ORPHA:319332
Diabetic Embryopathy
Spinal dysraphism, Hearing impairment, Abnormal morphology of female internal genitalia, Low-set,... ORPHA:1926
Lateral Meningocele Syndrome
Low-set ears, Decreased muscle mass, Micrognathia, Cryptorchidism, Ventricular septal defect, Bic... OMIM:130720
Fg Syndrome Type 1
Micrognathia, Frontal upsweep of hair, Cryptorchidism, Mitral valve prolapse, Sensorineural heari... ORPHA:93932
Holzgreve Syndrome
Hypoplastic left heart, Renal hypoplasia, Renal agenesis, Cleft upper lip, Cleft palate OMIM:236110
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Low-set ears, Hearing impairment, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Open ... OMIM:619950
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Cryptorchidism, Agenesis of corpus callosum, Atrial septal defect,... OMIM:175700
Fetal Minoxidil Syndrome
Depressed nasal bridge, Umbilical hernia, Low-set, posteriorly rotated ears, Micrognathia, Crypto... ORPHA:1918
Joubert Syndrome 15
Nephronophthisis, Retinopathy, Exencephaly, Coloboma, Ambiguous genitalia, Micropenis, Retinal dy... OMIM:614464
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Anosmia, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogonadotr... OMIM:610628
Short-Rib Thoracic Dysplasia 12
Low-set ears, Natal tooth, Neonatal death, Ventricular septal defect, Epicanthus, Hepatomegaly, H... OMIM:269860
Bardet-Biedl Syndrome 17
Anosmia, Polydipsia, Hypogonadism, Stage 5 chronic kidney disease, Situs inversus totalis, Macula... OMIM:615994
Fetal Trimethadione Syndrome
Low-set ears, Depressed nasal bridge, Abnormal helix morphology, Tetralogy of Fallot, Intrauterin... ORPHA:1913
Triploidy
Iris coloboma, Low-set, posteriorly rotated ears, Intestinal malrotation, Intrauterine growth ret... ORPHA:3376
Distal Monosomy 7Q36
Flat face, Abnormal calvaria morphology, Optic atrophy, Large face, Bulbous nose, Micrognathia, W... ORPHA:1636
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Hearing impairment, Azoospermia, Hypergonadotropic hyp... OMIM:613724
Tonne-Kalscheuer Syndrome
Velopharyngeal insufficiency, Small nail, Micrognathia, Narrow mouth, Cryptorchidism, Congenital ... OMIM:300978
Moebius Syndrome
Hearing impairment, Micrognathia, Open mouth, Epicanthus, Everted lower lip vermilion, High palat... ORPHA:570
Congenital Myopathy 19
Low-set ears, Depressed nasal ridge, Skeletal muscle atrophy, Hearing impairment, Congenital cont... OMIM:618578
Coenzyme Q10 Deficiency, Primary, 8
Hearing impairment, Postnatal growth retardation, Peripheral demyelination, Intrauterine growth r... OMIM:616733
Chung-Jansen Syndrome
Long philtrum, Large earlobe, Anteverted nares, Thick eyebrow, Micrognathia, Upslanted palpebral ... OMIM:617991
Joubert Syndrome 26
Recurrent upper respiratory tract infections, Cleft lip, Central hypothyroidism, Decreased respon... OMIM:616784
Coffin-Siris Syndrome 8
Self-injurious behavior, Hypertrichosis, Thick lower lip vermilion, Long eyelashes, Thick eyebrow... OMIM:618362
German Syndrome
Limitation of joint mobility, Micrognathia, Open mouth, Cryptorchidism, Everted lower lip vermili... ORPHA:2077
Gómez-López-Hernández Syndrome
Low-set ears, Toenail dysplasia, Telecanthus, Anteverted nares, Alopecia of scalp, Turricephaly, ... ORPHA:1532
Usher Syndrome, Type 1M
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Left ventricular hyper... OMIM:618632
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Smith-Magenis Syndrome
Abnormality of the outer ear, Hearing impairment, Velopharyngeal insufficiency, Everted upper lip... OMIM:182290
Koolen-De Vries Syndrome
Cryptorchidism, Overfriendliness, Epicanthus, Bicuspid aortic valve, Blepharophimosis, Everted lo... ORPHA:96169
Fried Syndrome
Skeletal muscle atrophy, Hearing impairment, Abnormal optic nerve morphology, Thickened calvaria,... ORPHA:85335
Congenital Arthrogryposis With Anterior Horn Cell Disease
Low-set ears, Skeletal muscle atrophy, Retrognathia, Abnormal anterior horn cell morphology, Down... OMIM:611890
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal OMIM:614279
Infantile Sialic Acid Storage Disease
Osteopenia, Hypopigmentation of the skin, Fair hair, Anteverted nares, Gingival overgrowth, Splen... OMIM:269920
Mcdonough Syndrome
Short palpebral fissure, Dental malocclusion, Underdeveloped nasal alae, Low-set, posteriorly rot... ORPHA:2471
Wiedemann-Steiner Syndrome
Low-set ears, Recurrent otitis media, Postnatal growth retardation, Contracture of the distal int... OMIM:605130
3Q13 Microdeletion Syndrome
Wide nasal bridge, Abnormality of the urinary system, Long philtrum, Anteverted nares, Joint stif... ORPHA:1621
46,Xy Sex Reversal 9
Sex reversal, Ambiguous genitalia, Fused labia minora, Gonadal dysgenesis OMIM:616067
Aarskog-Scott Syndrome
Cryptorchidism, Epicanthus, Round face, Everted lower lip vermilion, Abnormal pinna morphology, H... ORPHA:915
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Osteopenia, Renal hypoplasia, Renal cortical hyperechogenicity, Ventriculomegaly, Beta 2-microglo... OMIM:611555
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Nephropathy, Abnormal circulating calcium-phosphate regulating hormone concentration, Chorioretin... ORPHA:2196
Schuurs-Hoeijmakers Syndrome
Low-set ears, Cryptorchidism, Bicuspid aortic valve, Patent ductus arteriosus, Macrotia, Downturn... OMIM:615009
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Mitral valve prolapse, Sensorineural hearing impairment, Ventricula... ORPHA:500095
2Q32Q33 Microdeletion Syndrome
Low-set ears, Micrognathia, Narrow mouth, High palate, Sparse hair, Long face, Downslanted palpeb... ORPHA:251019
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Hypopigmented skin patches, Hepatosplenomegaly, Peripheral demyelination, Whi... OMIM:609136
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Intrauteri... OMIM:617914
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Low-set ears, Micrognathia, Narrow mouth, Congenital diaphragmatic hernia, Mitral valve prolapse,... OMIM:245600
Cerebrooculonasal Syndrome
Low-set ears, Postnatal growth retardation, Encephalocele, Sparse eyelashes, Epicanthus, High pal... OMIM:605627
Trisomy 20P
Abnormality of the ureter, Micrognathia, Cryptorchidism, Abnormal antihelix morphology, Low poste... ORPHA:261318
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Hypoplasia of the zygomatic bone, Bifid scrotum, Hypopigmented skin patches, Telecanthus... ORPHA:1295
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Bifid uvula, Retrognathia, Abnormal heart valve morph... ORPHA:169186
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Ankyloblepharon, Tooth agenesis, Cryptorchidism, Non-midline cleft of the upper lip, Cleft palate ORPHA:1074
Intellectual Developmental Disorder, Autosomal Dominant 26
Low-set ears, Micrognathia, Narrow mouth, Epicanthus, Prominent nasal tip, Short palpebral fissur... OMIM:615834
Chromosome 15Q26-Qter Deletion Syndrome
Low-set ears, Wide nasal bridge, Intrauterine growth retardation, Micrognathia, Cryptorchidism, S... OMIM:612626
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Generalized hyperpigmentation, Narrow mouth, Abnormal or... ORPHA:1355
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Low-set ears, Retrognathia, Abnormal number of incisors, Prominent nose, Cryptorchidism, Abnormal... ORPHA:2958
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Low-set ears, Optic atrophy, Depressed nasal bridge, Bulbous nose, Micrognathia, Narrow mouth, Cr... OMIM:618766
Suleiman-El-Hattab Syndrome
Low-set ears, Palpebral thickening, Hearing impairment, Cryptorchidism, Ventricular septal defect... OMIM:618950
Lowry-Maclean Syndrome
Low-set ears, Micrognathia, Congenital diaphragmatic hernia, Delayed eruption of primary teeth, M... ORPHA:2409
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia, Cleft lip, Cryptorchidism, Sensorineural hearing impairment, Hypogonadotropic hypogonadi... OMIM:612370
Renpenning Syndrome
Narrow mouth, Sensorineural hearing impairment, Epicanthus, Round ear, Anal atresia, Iris colobom... ORPHA:3242
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperpigmentation ... OMIM:613743
12Q14 Microdeletion Syndrome
Abnormality of the spleen, Micrognathia, Abnormal nostril morphology, Osteopoikilosis, Ectopic ki... ORPHA:94063
Fanconi Anemia, Complementation Group L
Low-set ears, Micrognathia, Anal atresia, Depressed nasal tip, Attention deficit hyperactivity di... OMIM:614083
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Aplasia/Hypoplasia involving the nose, Tooth agenesis, Abnormality of the sense ... ORPHA:1135
Filippi Syndrome
Wide nasal bridge, Optic atrophy, Sparse hair, Underdeveloped nasal alae, Hypertrichosis, Serrate... OMIM:272440
Gorlin Syndrome
Wide nasal bridge, Iris coloboma, Mandibular prognathia, Carious teeth, Telecanthus, Melanocytic ... ORPHA:377
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Low-set ears, Bifid nasal tip, Renal hypoplasia, Broad nasal tip, Secundum atrial septal defect, ... OMIM:619758
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Low-set ears, Cryptorchidism, Oral aversion, Ventricular septal defect, Bicuspid aortic valve, At... ORPHA:329224
Trisomy 5P
Ventriculomegaly, Renal hypoplasia/aplasia, Protruding ear, Ptosis, Round face, Short stature, Do... ORPHA:1742
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia, Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased s... OMIM:614841
Holoprosencephaly 5
Depressed nasal bridge, Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle ... OMIM:609637
Kbg Syndrome
Bilateral conductive hearing impairment, Cryptorchidism, Round face, Widely-spaced maxillary cent... ORPHA:2332
Kleefstra Syndrome
Limitation of joint mobility, Hearing impairment, Supernumerary nipple, Cryptorchidism, Ventricul... ORPHA:261494
Trisomy 1Q
Low-set ears, Small scrotum, Abnormality of the outer ear, Multicystic kidney dysplasia, Narrow m... ORPHA:261344
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Low-set ears, Arthrogryposis multiplex congenita, Micrognathia, Narrow mouth, Cryptorchidism, Sen... OMIM:619512
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Low-set ears, Optic atrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, ... OMIM:615419
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Osteopenia, Dilated cardiomyopathy, Growth delay, Renal agenesis, Bilateral cryp... ORPHA:2326
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Highly arched eyebrow, Macrodontia, Open mouth, Malar flattening, Crypto... ORPHA:228402
Intellectual Disability-Strabismus Syndrome
Low-set ears, Joint contracture of the hand, Limitation of joint mobility, Hearing impairment, Re... ORPHA:363528
Noonan Syndrome 13
Low-set ears, Recurrent otitis media, Micrognathia, Cryptorchidism, Mitral valve prolapse, Low po... OMIM:619087
Walker-Warburg Syndrome
Low-set ears, Aplasia/Hypoplasia involving the skeletal musculature, Cryptorchidism, Agenesis of ... ORPHA:899
Mosaic Variegated Aneuploidy Syndrome 1
Low-set ears, Multicystic kidney dysplasia, Postnatal growth retardation, Micrognathia, Cryptorch... OMIM:257300
Noonan Syndrome 10
Low-set ears, Sparse eyebrow, Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Crypto... OMIM:616564
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Lissencephaly, Bifid uvula, Retrognathia, Skull asymmetry, Umbilical hernia, Hypertrophic cardiom... OMIM:612938
Distal Deletion 10P
Wide nasal bridge, Hearing impairment, Downslanted palpebral fissures, Low-set, posteriorly rotat... ORPHA:1580
Bardet-Biedl Syndrome
Chronic kidney disease, Inflammation of the large intestine, Hearing impairment, Hydrometrocolpos... ORPHA:110
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Short uvula, Fine hair, Agenesis of permanent teeth, Short lingual... OMIM:614091
Genitopalatocardiac Syndrome
Low-set ears, Wide nasal bridge, Multicystic kidney dysplasia, Downturned corners of mouth, Downs... ORPHA:2075
Cranioectodermal Dysplasia 2
Low-set ears, Micrognathia, Sparse eyelashes, Epicanthus, Blepharophimosis, Narrow palpebral fiss... OMIM:613610
Cornelia De Lange Syndrome 2
Postnatal growth retardation, Micrognathia, Limited elbow movement, High palate, Downturned corne... OMIM:300590
Aminopterin Syndrome Sine Aminopterin
Low-set ears, Highly arched eyebrow, Joint contracture of the hand, Umbilical hernia, Frontal bos... OMIM:600325
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hearing impairment, Micrognathia, Retinal detachment, High palate, Long face, Short nose, Self-in... OMIM:619833
Fanconi Anemia
Hearing impairment, Hypopigmented skin patches, Aplasia/Hypoplasia of the uvula, Micrognathia, Cr... ORPHA:84
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia, Osteopenia, Abnormality of the dentition, Hearing impairment, Hypogonadism, Absence of p... OMIM:615267
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Shoulder flexion contracture, Retrognathia, Pursed lips, Camptodactyly of... OMIM:619110
Septo-Optic Dysplasia Spectrum
Anosmia, Polydipsia, Cryptorchidism, Sensorineural hearing impairment, Agenesis of corpus callosu... ORPHA:3157
Intellectual Developmental Disorder, Autosomal Dominant 23
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Dental crowding, Downturned corners of m... OMIM:615761
Distal Triplication 15Q
Low-set ears, Abnormal helix morphology, Dilatation of the renal pelvis, Micrognathia, Sensorineu... ORPHA:314588
X-Linked Intellectual Disability, Siderius Type
Broad nasal tip, Cleft upper lip, Decreased testicular size, Cryptorchidism, Low posterior hairli... ORPHA:85287
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Short nose, Retinal dystrophy, Alopecia, Downturned corners of mouth, Decrease... OMIM:619321
Coffin-Siris Syndrome 7
Low-set ears, Hearing impairment, Recurrent otitis media, Ventricular septal defect, Epicanthus, ... OMIM:618027
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Abnormality of neuronal migration, Abnormal facial shape, Attention deficit hyp... OMIM:618709
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o... ORPHA:171445
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cryptorchidism, Micropenis, Hypospadias, Abnormal pinna morphology, Polymicrogyria, Decreased tes... OMIM:300354
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Cryptorchidism, Ventricular septal defect, Epicanthus, Atrial septal defect, Patent ductus arteri... ORPHA:457193
Mehmo Syndrome
Male hypogonadism, Broad nasal tip, Cleft lip, Ventriculomegaly, Long philtrum, Widely spaced tee... OMIM:300148
Distal 22Q11.2 Microduplication Syndrome
Low-set ears, Abnormal helix morphology, Micrognathia, Cryptorchidism, Abnormal antihelix morphol... ORPHA:261337
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of the prostate, Cryptorchidism, Thickened calvaria, Coarse facial features, Ptosis, D... OMIM:301900
Kallmann Syndrome With Spastic Paraplegia
Anosmia, Unilateral renal agenesis, Sparse pubic hair, Hypothalamic gonadotropin-releasing hormon... OMIM:308750
Chromosome 19Q13.11 Deletion Syndrome, Distal
Low-set ears, Carious teeth, Postnatal growth retardation, Micrognathia, Cryptorchidism, Sparse e... OMIM:613026
Blepharonasofacial Malformation Syndrome
Wide nasal bridge, Optic atrophy, Sparse lateral eyebrow, Hearing impairment, Underdeveloped nasa... ORPHA:1252
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Tetralogy of Fallot, Corpus cavernosum hypoplasia, Abnormality of thyroid physiolog... OMIM:615542
Frontonasal Dysplasia 1
Low-set ears, Joint contracture of the hand, Agenesis of corpus callosum, Epicanthus, Bifid nose,... OMIM:136760
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Recurrent upper respiratory tract infections, Broad nasal tip, Long philtrum, Recurrent otitis me... ORPHA:589905
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Supernumerary nipple, Open mouth, Cryptorchidism, Ventricular septal defect, Epicanthus, Atrial s... ORPHA:466791
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Carious teeth, Premature graying of hair, Low-set, posteriorly rotated ears... ORPHA:2617
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia, Osteopenia, Decreased testicular size, Azoospermia, Absence of pubertal development, Cry... OMIM:614837
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Cleft lip, Hearing impairment, Delayed puberty, Osteoporosis, Hyposmia OMIM:615271
Kondoh Syndrome
Interphalangeal joint contracture of finger, Long philtrum, Intrauterine growth retardation, Thic... OMIM:606242
Coffin-Siris Syndrome 3
Hearing impairment, Dandy-Walker malformation, High palate, Wide nose, Central diaphragmatic hern... OMIM:614608
Cleft Palate-Large Ears-Small Head Syndrome
Skeletal muscle atrophy, Micrognathia, Gingival overgrowth, Elfin facies, Hypoplastic toenails, P... ORPHA:2013
Wilson-Turner Syndrome
Broad nasal tip, Malar prominence, Micrognathia, Thick eyebrow, Cryptorchidism, Thin upper lip ve... ORPHA:3459
Bardet-Biedl Syndrome 1
Hearing impairment, Rod-cone dystrophy, Abnormality of the kidney, High palate, Retinal dystrophy... OMIM:209900
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Lateral ventricle dilatation, Hepatosplenomegaly, Glomeru... OMIM:619487
Cardiofaciocutaneous Syndrome
Cryptorchidism, Low posterior hairline, Epicanthus, Atrial septal defect, Brittle hair, High pala... ORPHA:1340
Bosma Arhinia Microphthalmia Syndrome
Absent tragus, Atresia of the external auditory canal, Cryptorchidism, Hypoplastic labia majora, ... OMIM:603457
Eec Syndrome
Carious teeth, Xerostomia, Sensorineural hearing impairment, Renal hypoplasia/aplasia, Abnormalit... ORPHA:1896
Thauvin-Robinet-Faivre Syndrome
Downslanted palpebral fissures, Retinal coloboma, Bifid ureter, Transient neutropenia, Thick verm... OMIM:617107
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Micrognathia, Aplasia of the uterus, Anteriorly displaced ure... OMIM:266810
Joubert Syndrome 14
Low-set ears, Open mouth, Encephalocele, Ventricular septal defect, Epicanthus, Dandy-Walker malf... OMIM:614424
Intellectual Developmental Disorder, Autosomal Dominant 21
Low-set ears, Ventriculomegaly, Long philtrum, Long eyelashes, Narrow mouth, Cryptorchidism, Epic... OMIM:615502
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Low-set ears, Hearing impairment, Everted upper lip vermilion, Supernumerary nipple, Micrognathia... OMIM:619951
Autosomal Recessive Multiple Pterygium Syndrome
Low-set ears, Small scrotum, Limitation of joint mobility, Hearing impairment, Micrognathia, Cryp... ORPHA:2990
Coffin-Siris Syndrome 6
Low-set ears, Micrognathia, Epicanthus, Atrial septal defect, Narrow palpebral fissure, Tics, Mot... OMIM:617808
Diencephalic Syndrome
Optic atrophy, Long penis, Everted lower lip vermilion, Hydrocephalus, Abnormality of the hypotha... ORPHA:1672
King-Denborough Syndrome
Low-set ears, Centrally nucleated skeletal muscle fibers, Minicore myopathy, Broad nasal tip, Bil... OMIM:619542
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Micrognathia, Narrow mouth, ... OMIM:617201
Spinal Muscular Atrophy, X-Linked 2
Arthrogryposis multiplex congenita, Micrognathia, Decreased compound muscle action potential ampl... OMIM:301830
Steinfeld Syndrome
Bifid uvula, Hearing impairment, Unilateral renal dysplasia, Retinal coloboma, Abnormal heart mor... OMIM:184705
Crouzon Syndrome
Iris coloboma, Hypoplasia of the maxilla, Optic atrophy, Conductive hearing impairment, Hearing i... ORPHA:207
Hajdu-Cheney Syndrome
Low-set ears, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect, Absent front... OMIM:102500
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Low-set ears, Small scrotum, Triangular nasal tip, Micrognathia, Open mouth, Cryptorchidism, Prot... OMIM:309580
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Tetralogy of Fallot, Joint stiffness, Micrognathia, Vesicoureteral reflux, Congen... ORPHA:1166
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Low-set ears, Hearing impairment, Cryptorchidism, Ventricular septal defect, Atrial septal defect... OMIM:617452
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, Retrognathia, Increased CSF lactate, Micrognathia, Prominent nas... OMIM:604273
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Wide nasal bridge, Long philtrum, Thick eyebrow, Widow's peak, Upslanted palpebral fissure, Crypt... OMIM:614684
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Small nail, Elbow flexion contracture, Aggressive behavior, Hydrocephalus, Hyperac... OMIM:619470
6Q25 Microdeletion Syndrome
Wide nasal bridge, Ventriculomegaly, Plagiocephaly, Long philtrum, Downslanted palpebral fissures... ORPHA:251056
Temple Syndrome
Precocious puberty, Bifid uvula, Few cafe-au-lait spots, Decreased response to growth hormone sti... ORPHA:254516
Squalene Synthase Deficiency
Low-set ears, Depressed nasal bridge, Retrognathia, Elevated urine mesaconic acid level, Bilatera... OMIM:618156
Xq27.3Q28 Duplication Syndrome
Sparse body hair, Hypogonadism, Decreased testicular size, Bulbous nose, Intrauterine growth reta... ORPHA:261483
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Low-set ears, Highly arched eyebrow, Depressed nasal bridge, Unilateral renal agenesis, Lissencep... OMIM:618142
Khan-Khan-Katsanis Syndrome
Lymphopenia, Micrognathia, Sensorineural hearing impairment, Epiblepharon, Neutropenia, Dysphagia... OMIM:618460
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Ventriculomegaly, Disproportionate short-limb short stature, Low-set, pos... ORPHA:2772
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Low-set ears, Abnormality of the outer ear, Postnatal growth retardation, Micrognathia, Narrow mo... ORPHA:251028
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Congenital bilateral ptosis, Postnatal growth retard... ORPHA:73272
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Micrognathia, Frontal upsweep of hair, Cryptorchidism, Sensorineur... OMIM:305450
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the urinary system, Upper limb muscle weakness, Lower limb muscle weakness, Lower ... ORPHA:90117
Ohdo Syndrome
Small scrotum, Hearing impairment, Micrognathia, Narrow mouth, Cryptorchidism, Epicanthus, Blepha... OMIM:249620
46,Xy Sex Reversal 5
Abnormal female external genitalia morphology, Abnormality of circulating cortisol level, Abnorma... OMIM:613080
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Azoospermia, Mitral valve prolapse, Low posterior hairline, Sparse facial ha... ORPHA:2183
Chromosome 10Q26 Deletion Syndrome
Low-set ears, Small scrotum, Flared nostrils, Small nail, Postnatal growth retardation, Micrognat... OMIM:609625
Kleefstra Syndrome 1
Natal tooth, Hearing impairment, Cryptorchidism, Protruding tongue, Everted lower lip vermilion, ... OMIM:610253
Ritscher-Schinzel Syndrome 4
Cryptorchidism, Agenesis of corpus callosum, Mild fetal ventriculomegaly, Curly hair, High palate... OMIM:619435
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Ventriculomegaly OMIM:115210
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Highly arched eyebrow, Anosmia, Thick lower lip vermilion, Thick eyebrow, Abnormal cranial nerve ... ORPHA:2057
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Wide nasal bridge, Small scrotum, Abnormal helix morphology, Optic atrophy, Abnormality of the de... ORPHA:1970
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Low-set ears, Supernumerary nipple, Cryptorchidism, Agenesis of corpus callosum, Low posterior ha... OMIM:618929
Intellectual Developmental Disorder, Autosomal Dominant 65
Low-set ears, Thick upper lip vermilion, Micrognathia, Agenesis of corpus callosum, Low posterior... OMIM:619320
Andersen-Tawil Syndrome
Low-set ears, Micrognathia, Abnormality of dental color, High palate, Short palpebral fissure, Hy... ORPHA:37553
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Low-set ears, Lymphopenia, Micrognathia, Cryptorchidism, Blepharophimosis, Atrial septal defect, ... OMIM:620005
Coffin-Siris Syndrome
Wide nasal base, Hearing impairment, Small nail, Postnatal growth retardation, Hypoplastic fifth ... ORPHA:1465
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hearing impairment, Micrognathia, Cryptorchidism, Ventricular septal defect, Limited elbow moveme... OMIM:610759
Marden-Walker Syndrome
Low-set ears, Aplasia/Hypoplasia involving the skeletal musculature, Multicystic kidney dysplasia... ORPHA:2461
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Renal hypoplasia, Conductive hearing impairment, Microphallus, Duode... OMIM:603467
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Low-set, posteriorly rotated ears, Telecanthus, Cryptorchidism, Aplasia/Hypoplasia of the testes,... ORPHA:3055
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Upslanted palpebral fissure, Sensorineural hearing impairment, Hypoplasia of the f... OMIM:620086
Acrodysostosis 1 With Or Without Hormone Resistance
Hearing impairment, Cryptorchidism, Decreased growth hormone responses to growth hormone-releasin... OMIM:101800
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Birk-Landau-Perez Syndrome
Optic atrophy, Renal hypoplasia, Progressive sensorineural hearing impairment, Hyperechogenic kid... OMIM:617595
Hypotonia-Cystinuria Syndrome
Depressed nasal bridge, Cystine crystalluria, Macrotia, Decreased response to growth hormone stim... OMIM:606407
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Hearing impairment, Atresia of the external auditory canal, Cryptorchidism... OMIM:601808
Jacobsen Syndrome
Low-set ears, Chorioretinal coloboma, Micrognathia, Cryptorchidism, Ventricular septal defect, Ep... OMIM:147791
Neurofibromatosis-Noonan Syndrome
Abnormal helix morphology, Downslanted palpebral fissures, Low-set, posteriorly rotated ears, Hyp... ORPHA:638
Beemer Lethal Malformation Syndrome
Wide nasal bridge, Ambiguous genitalia, Hydrocephalus, Thrombocytopenia OMIM:209970
Wiedemann-Rautenstrauch Syndrome
Low-set ears, Natal tooth, Small nail, Micrognathia, Narrow mouth, Cryptorchidism, Sparse eyelash... OMIM:264090
Fetal Akinesia Deformation Sequence 4
Low-set ears, Wide nasal bridge, Skeletal muscle atrophy, Retrognathia, Arthrogryposis multiplex ... OMIM:618393
Trisomy 13
Low-set ears, Abnormal helix morphology, Abnormality of the ureter, Cryptorchidism, Abnormal anti... ORPHA:3378
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Low-set ears, Hearing impairment, Open mouth, Sensorineural hearing impairment, Ventricular septa... OMIM:220500
Chromosome 1P35 Deletion Syndrome
Wide nasal bridge, Hearing impairment, Congenital hypothyroidism, Anterior creases of earlobe, Mi... OMIM:617930
Lacrimoauriculodentodigital Syndrome
Low-set ears, Carious teeth, Xerostomia, Micrognathia, Cryptorchidism, Sensorineural hearing impa... ORPHA:2363
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Low-set ears, Abnormality of the outer ear, Thick upper lip vermilion, Narrow mouth, Short lingua... OMIM:617360
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Low-set ears, Peripheral demyelination, Neutropenia, Stomatitis, Long face, Macular coloboma, Abn... ORPHA:79282
Townes-Brocks Syndrome
Abnormal vagina morphology, Hearing impairment, Chorioretinal coloboma, Cryptorchidism, Agenesis ... ORPHA:857
Warburg Micro Syndrome 4
Small scrotum, Optic atrophy, Decreased motor nerve conduction velocity, Decreased muscle mass, L... OMIM:615663
Mucolipidosis Type Ii
Dry hair, Limitation of joint mobility, White hair, Postnatal growth retardation, Hepatosplenomeg... ORPHA:576
Kabuki Syndrome
Cryptorchidism, Congenital diaphragmatic hernia, Sensorineural hearing impairment, Renal hypoplas... ORPHA:2322
Smith-Magenis Syndrome
Abnormality of the ureter, Micrognathia, Open mouth, Delayed eruption of primary teeth, Renal hyp... ORPHA:819
8Q22.1 Microdeletion Syndrome
Low-set ears, Limitation of joint mobility, Cryptorchidism, Abnormal antihelix morphology, Sparse... ORPHA:178303
Chromosome 6Q24-Q25 Deletion Syndrome
Low-set ears, Lateral ventricle dilatation, Mitral valve prolapse, Sparse eyelashes, Agenesis of ... OMIM:612863
Prieto Syndrome
Low-set ears, Abnormality of the dentition, Retrognathia, Prominent nose, Cryptorchidism, Epicant... OMIM:309610
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Ventriculomegaly, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Left ventr... OMIM:618228
Cataract-Intellectual Disability-Hypogonadism Syndrome
Depressed nasal bridge, Tooth malposition, Low-set, posteriorly rotated ears, Furrowed tongue, Mi... ORPHA:1387
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Atresia of the external auditory canal, Small nail, Narrow mouth, Agenesis of corpus... OMIM:123790
X-Linked Mandibulofacial Dysostosis
Conductive hearing impairment, Hypoplasia of the zygomatic bone, Downslanted palpebral fissures, ... ORPHA:1131
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Low-set ears, Carious teeth, Bilateral conductive hearing impairment, Branchial cyst, Atresia of ... OMIM:620186
Legius Syndrome
Low-set ears, High, narrow palate, Inguinal freckling, Neurofibroma, Downslanted palpebral fissur... OMIM:611431
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Highly arched eyebrow, Short palpebral fissure, Small scrotum, Growth delay, Ventriculomegaly, Un... ORPHA:2083
Mehmo Syndrome
Growth delay, Downturned corners of mouth, Large earlobe, External genital hypoplasia, Cryptorchi... ORPHA:85282
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Low-set ears, Underdeveloped nasal alae, Intrauterine growth retardation, Sensorineural hearing i... ORPHA:423479
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Low-set ears, Delayed epiphyseal ossification, Lateral ventricle dilatation, Micrognathia, Crypto... OMIM:210710
Koolen-De Vries Syndrome
Pear-shaped nose, Cryptorchidism, Open mouth, Ventricular septal defect, Epicanthus, Bicuspid aor... OMIM:610443
Sifrim-Hitz-Weiss Syndrome
Low-set ears, Hearing impairment, Cryptorchidism, Ventricular septal defect, Epicanthus, Atrial s... OMIM:617159
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Micrognathia, Frontal upsweep of hair, Ventricular septal defect, Epicanthus, Atrial septal defec... OMIM:617061
Seckel Syndrome 5
Low-set ears, Clitoral hypertrophy, Abnormal cortical gyration, Retrognathia, Selective tooth age... OMIM:613823
Exstrophy-Epispadias Complex
Abnormality of the ureter, Cryptorchidism, Abnormality of the kidney, Urinary incontinence, Abnor... ORPHA:322
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal helix morphology, Hearing impairment, Open mouth, Cryptorchidism, Ventricular septal def... ORPHA:453499
16P12.1P12.3 Triplication Syndrome
Low-set ears, Epicanthus, Atrial septal defect, Short nose, High, narrow palate, Short palpebral ... ORPHA:485405
Gabriele-De Vries Syndrome
Low-set ears, Lateral ventricle dilatation, Micrognathia, Frontal upsweep of hair, Cryptorchidism... OMIM:617557
Ulnar-Mammary Syndrome
Renal hypoplasia, Abnormality of the uterus, Camptodactyly of finger, Breast aplasia, Abnormal fi... ORPHA:3138
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Skeletal muscle atrophy, Limitation of joint mobility, Downslanted pal... ORPHA:3068
Distal Duplication 15Q
Downturned corners of mouth, Long philtrum, Downslanted palpebral fissures, Abnormal female exter... ORPHA:1707
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Atresia of the external auditory canal, Downslanted palpebral fissures, Gonadal dysgenesis, Umbil... ORPHA:1770
Carpenter Syndrome 1
Low-set ears, Lambdoidal craniosynostosis, Joint contracture of the hand, Micrognathia, Cryptorch... OMIM:201000
Congenital Fibrinogen Deficiency
Gingival bleeding, Volvulus, Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricula... ORPHA:335
Oculocerebrocutaneous Syndrome
Alopecia, Cleft ala nasi, Cryptorchidism, Eyelid coloboma, Orbital cyst, Agenesis of corpus callo... OMIM:164180
Leber Congenital Amaurosis 8
Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti... OMIM:613835
Noonan Syndrome 5
Low-set ears, Small nail, Cryptorchidism, Epicanthus, Atrial septal defect, Curly hair, Sparse ey... OMIM:611553
N Syndrome
Bilateral sensorineural hearing impairment, Hypospadias, Abnormal eyelid morphology, Cryptorchidism ORPHA:2608
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Bulbous nose, Micrognathia, Gray matter heterotopia, Cryptorchidism, Self-mutilat... OMIM:604317
Weaver Syndrome
Retrognathia, Fine hair, Downslanted palpebral fissures, Low-set, posteriorly rotated ears, Campt... ORPHA:3447
Borjeson-Forssman-Lehmann Syndrome
Small scrotum, Skeletal muscle atrophy, Hearing impairment, Hypogonadism, Decreased testicular si... ORPHA:127
Chromosome 16Q22 Deletion Syndrome
Low-set ears, Highly arched eyebrow, Short palpebral fissure, Wide nasal bridge, Depressed nasal ... OMIM:614541
Intellectual Developmental Disorder, Autosomal Recessive 65
Square face, Secundum atrial septal defect, Supernumerary nipple, Downslanted palpebral fissures,... OMIM:618109
Takenouchi-Kosaki Syndrome
Low-set ears, Flared nostrils, Cryptorchidism, Sensorineural hearing impairment, Hypospadias, Pat... OMIM:616737
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Low-set ears, Wide nasal bridge, Horizontal eyebrow, Anteverted nares, Exaggerated cupid's bow, T... OMIM:619311
Baraitser-Winter Syndrome 2
Highly arched eyebrow, Ventriculomegaly, Hearing impairment, Retrognathia, Long philtrum, Pachygy... OMIM:614583
Chondrodysplasia Punctata 1, X-Linked Recessive
Anosmia, Depressed nasal bridge, Hearing impairment, Hypogonadism, Epiphyseal stippling, Short na... OMIM:302950
Hajdu-Cheney Syndrome
Low-set ears, Aortic valve stenosis, Periodontitis, Hearing impairment, Open bite, Micrognathia, ... ORPHA:955
Imagawa-Matsumoto Syndrome
Anteriorly placed anus, Downslanted palpebral fissures, Umbilical hernia, Hypertrichosis, Melanoc... OMIM:618786
Orofaciodigital Syndrome I
Low-set ears, Carious teeth, Dry hair, Hearing impairment, Ankyloglossia, Ovarian cyst, Agenesis ... OMIM:311200
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Tetralogy Of Fallot
Tetralogy of Fallot, Intrauterine growth retardation, Cryptorchidism, Abnormal nasal morphology, ... ORPHA:3303
Brain Malformations With Or Without Urinary Tract Defects
Low-set ears, Renal hypoplasia, Ventriculomegaly, Anteverted nares, Broad face, Vesicoureteral re... OMIM:613735
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Decreased muscle mass, Hypogonadism, Decreased te... OMIM:229070
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Low-set ears, Micrognathia, Cryptorchidism, Ventricular septal defect, Blepharophimosis, Downturn... ORPHA:404440
Intellectual Developmental Disorder, X-Linked 30
Flat face, Thick upper lip vermilion, Anteverted nares, Prominent nasal bridge, Open mouth, Upsla... OMIM:300558