Gene Summary

Name:
alkB homolog 1, histone H2A dioxygenase
Synonyms:
Alkbh,  Nrp,  alkB

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
abnormal kidney morphology Alkbh1tm1b(EUCOMM)Hmgu HET Early adult 0.00
abnormal mammary gland morphology Alkbh1tm1b(EUCOMM)Hmgu HET Late adult 0.00
abnormal spleen morphology Alkbh1tm1b(EUCOMM)Hmgu HET Early adult 0.00
decreased Ly6C-positive NK T cell number Alkbh1tm1b(EUCOMM)Hmgu HET Late adult 2.16×10-05
abnormal ileum morphology Alkbh1tm1b(EUCOMM)Hmgu HET Late adult 0.00
abnormal liver morphology Alkbh1tm1b(EUCOMM)Hmgu HET Late adult 0.00
preweaning lethality, complete penetrance Alkbh1tm1b(EUCOMM)Hmgu HOM   Early adult 3.18×10-05
enlarged lymph nodes Alkbh1tm1b(EUCOMM)Hmgu HET Late adult 0.00
increased plasmacytoid dendritic cell number Alkbh1tm1b(EUCOMM)Hmgu HET Late adult 3.14×10-05

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lacZ Expression

Expression data not available

Associated Images

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

Electrocardiogram (ECG)

Waveform Image

36 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Human diseases caused by Alkbh1 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 Alkbh1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Cofs Syndrome
Wide nasal bridge, Cataract, Optic atrophy, Camptodactyly of finger, Hypogonadism, Joint stiffnes... ORPHA:1466
Microphthalmia/Coloboma 5
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Anencephaly 2
Bifid nose, Anencephaly, Anophthalmia OMIM:619452
Microphthalmia With Limb Anomalies
Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retardation, Anopht... OMIM:206920
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Small placenta, Intrauterine growth retardation,... ORPHA:439167
Trisomy 13
Bilateral single transverse palmar creases, Cryptorchidism, Displacement of the urethral meatus, ... ORPHA:3378
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Small hand, Elevated circulating luteinizing hormone level, Moyamoya phenomenon, Abnormal hand mo... OMIM:300845
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Cataract, Rhizomelia, Abnormal epiphysis morphology, Downturned corners of mou... ORPHA:93267
Warburg Micro Syndrome 1
Wide nasal bridge, Optic atrophy, Microcornea, Overlapping toe, External genital hypoplasia, Micr... OMIM:600118
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Retinal detachment, Abnormal bone ossification, Flattened epiphysis, Microphthalmia... ORPHA:163649
Meckel Syndrome, Type 8
Depressed nasal ridge, Occipital encephalocele, Anophthalmia, Encephalocele, Microphthalmia, Shor... OMIM:613885
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar... ORPHA:363417
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Flared nostrils, Cataract, Dilated cardiomyopathy, Retrognathia, Long philtrum, Moyamoya phenomen... ORPHA:280679
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Retrognathia, Hypogonadism, Narrow mouth, Microphthalmia, Short stature, H... ORPHA:2528
Microphthalmia, Syndromic 12
Wide nasal bridge, Broad nasal tip, Anophthalmia, Microphthalmia OMIM:615524
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Ectopia pupillae, Postnatal growth retardation, Cone/cone-rod dystrophy, Microphthalmia, Hypoplas... OMIM:608940
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Optic atrophy, Prominent nose, Micrognathia, Intrauterine growth retardati... OMIM:616171
Frontonasal Dysplasia 1
Joint contracture of the hand, Clinodactyly, Microphthalmia, Bifid nose, Widely-spaced maxillary ... OMIM:136760
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Aplasia of the nasal bon... ORPHA:93357
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio... ORPHA:93323
17Q21.31 Microduplication Syndrome
Abnormality of the dentition, Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Malar f... ORPHA:217340
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathia, Large fonta... OMIM:257850
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Reduced bone mineral den... ORPHA:2370
Pierpont Syndrome
Cryptorchidism, Everted lower lip vermilion, Microphthalmia, Short foot, Short nose, Wide nose, M... OMIM:602342
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Mandibular prognathia, Cone-shaped epiphysis, Anteverted nares, Congenita... OMIM:614613
Cockayne Syndrome Type 2
Male hypogonadism, Widely spaced primary teeth, Intrauterine growth retardation, Hypoplasia of th... ORPHA:90322
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Radioulnar synostosis, Retinal detachment, Microphthalmia, Iris c... ORPHA:2712
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Postaxial foot polydactyly, Finger syndactyly, Chorioretinal coloboma, Cry... ORPHA:139471
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Megalocornea, Cryptorchidism, Everted lower lip vermilion, Short f... ORPHA:915
Temtamy Syndrome
Short toe, Chorioretinal coloboma, Thick lower lip vermilion, Micrognathia, Abnormal palate morph... ORPHA:1777
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Malar prominence, Intrauterine growth retardation, Micrognathia, Hypogonad... ORPHA:48431
Oliver-Mcfarlane Syndrome
Severe short stature, Pigmentary retinopathy, Central heterochromia, Decreased response to growth... OMIM:275400
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Cleft ala nasi, Anophthalmia, Microphthalmia OMIM:164180
Cerebrooculonasal Syndrome
Postnatal growth retardation, Anophthalmia, Encephalocele, High palate, Iris coloboma, U-Shaped u... OMIM:605627
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Cryptorchidism, Joint hypermobility, Aplasia/Hypoplasia aff... ORPHA:1695
Acrodysostosis 1 With Or Without Hormone Resistance
Long hallux, Cryptorchidism, Decreased growth hormone responses to growth hormone-releasing hormo... OMIM:101800
Acrodysostosis
Abnormal female external genitalia morphology, Open bite, Open mouth, Cryptorchidism, Bowing of t... ORPHA:950
Pierpont Syndrome
Microcornea, Short toe, Prominent fingertip pads, Short finger, Widely spaced teeth, Excessive wr... ORPHA:487825
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Cataract, Choanal atresia, Depressed nasal bridge, Optic atrophy,... ORPHA:1914
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Wide nasal bridge, Broad alveolar ridges, Delayed eruption of teeth, Campto... ORPHA:2863
Camptodactyly Syndrome, Guadalajara Type 1
Toe syndactyly, Open bite, Narrow mouth, High palate, Short nose, Microcornea, Short toe, Downtur... ORPHA:1327
Alpha-Heavy Chain Disease
Alopecia, Abnormal small intestine morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
Cerebrooculofacioskeletal Syndrome 1
Cataract, Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Long philtrum,... OMIM:214150
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Osteopenia, Abnormal lower limb bone morphology, Microphthalmia, Inc... ORPHA:2788
Liberfarb Syndrome
Delayed epiphyseal ossification, Retinal pigment epithelial mottling, Retinal degeneration, Metap... OMIM:618889
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Fl... OMIM:251450
Proteus-Like Syndrome
Genu recurvatum, Cataract, Mandibular prognathia, Thymus hyperplasia, Abnormality of the parathyr... ORPHA:2969
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, S... ORPHA:1106
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Wide nasal bridge, Cataract, Optic atrophy, Conical tooth, Dental malocclusion, Sandal gap, Broad... OMIM:618727
Short Syndrome
Wide nasal bridge, Abnormality of the dentition, Severe short stature, Abnormal mandible morpholo... ORPHA:3163
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Chorioretinal coloboma, Short first metatarsal, Anteverted nares, Epiphysea... OMIM:619135
Distal Duplication 18Q
Choanal atresia, Carious teeth, Deviation of finger, Camptodactyly of finger, Abnormal female ext... ORPHA:1716
Walker-Warburg Syndrome
Cataract, Microcornea, Retinal dysplasia, Optic atrophy, Abnormal optic nerve morphology, Bifid u... ORPHA:899
Premature Ovarian Failure 12
Primary amenorrhea, Microphthalmia OMIM:616947
Pseudopseudohypoparathyroidism
Cataract, Depressed nasal bridge, Delayed eruption of teeth, Pseudohypoparathyroidism, Enamel hyp... OMIM:612463
Microphthalmia, Syndromic 2
Aortic valve stenosis, Hand clenching, Cryptorchidism, Anophthalmia, Contracture of the proximal ... OMIM:300166
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Toe syndactyly, Long philtrum, Umbilical hernia, Anteverted nares, Microg... ORPHA:171839
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small scrotum, Camptodactyly of finger, Prominent nose, Micrognathia, Microphthalmia, I... OMIM:610756
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Hypogonadism, External genital hypoplasia, Cryptorchidism, Polydact... OMIM:615982
Weiss-Kruszka Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Single transverse palmar c... ORPHA:502430
Pyle Disease
Mandibular prognathia, Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persis... OMIM:265900
Lowry-Maclean Syndrome
Megalocornea, Micrognathia, Delayed eruption of primary teeth, Hypospadias, Short nose, High, nar... ORPHA:2409
Hydrolethalus
Bifid uvula, Gingival cleft, Micromelia, Retrognathia, Unilateral cleft lip, Micrognathia, Crypto... ORPHA:2189
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Disproportiona... ORPHA:168549
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Ectopia pupillae, Cone/cone-rod dystrophy, Bowing of the long bones, Microphthal... ORPHA:85167
Trisomy 1Q
Small scrotum, Depressed nasal bridge, Toe syndactyly, Microretrognathia, Camptodactyly of finger... ORPHA:261344
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Cataract, Abnormality... ORPHA:1617
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Martsolf Syndrome 1
Tooth malposition, Micrognathia, Cryptorchidism, Talipes equinovarus, Broad fingertip, Microphtha... OMIM:212720
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Dental malocclusion, Underdeveloped nasal alae, Widely spaced teeth, Attenuation of ret... OMIM:616108
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Warburg Micro Syndrome 3
Cataract, Microcornea, Small scrotum, Optic atrophy, Downturned corners of mouth, Narrow palate, ... OMIM:614222
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Rhizomelia, Elbow dislocation, Micromelia, Long philtrum, Pterygium, Shor... ORPHA:93329
Cockayne Syndrome Type 1
Cataract, Male hypogonadism, Mandibular prognathia, Foot joint contracture, Optic atrophy, Pigmen... ORPHA:90321
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Ulnar deviation of finger, Hypoplasia of the maxilla, Abnormal optic nerve m... ORPHA:1101
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Widely spaced teeth, Anteverted nares, Micrognathia, Astigmatism, Knee flexion contract... OMIM:619694
Alagille Syndrome
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Keratoconus, Intrauterine g... ORPHA:52
Otodental Syndrome
Carious teeth, Periodontitis, Microphthalmia, Lens coloboma, Iris coloboma, Cataract, Microcornea... ORPHA:2791
Bardet-Biedl Syndrome 16
Hypogonadism, External genital hypoplasia, Retinal degeneration, Polydactyly, Rod-cone dystrophy,... OMIM:615993
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Congenital hip dislocation, Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced t... OMIM:619797
Focal Dermal Hypoplasia
Toe syndactyly, Chorioretinal coloboma, Supernumerary nipple, Cryptorchidism, Anophthalmia, Telan... OMIM:305600
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Micrognathia, Talipes equinovarus, Microphthalmia, Rocker bottom... OMIM:616570
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Hypoplastic female external genitalia, Clinodactyly, Long philtrum, Anteverted... OMIM:618577
Pseudohypoparathyroidism, Type Ia
Cataract, Depressed nasal bridge, Elevated circulating parathyroid hormone level, Short toe, Dela... OMIM:103580
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Wide nasal bridge, Retrognathia, Chorioretinal coloboma, Long philtrum, Cl... OMIM:243310
Anophthalmia Plus Syndrome
Choanal atresia, Abnormal nasal morphology, Anophthalmia, Spina bifida ORPHA:1104
Meckel Syndrome
Postaxial foot polydactyly, Micrognathia, Cryptorchidism, Anophthalmia, Encephalocele, Bowing of ... ORPHA:564
Stickler Syndrome Type 1
Cataract, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Long philtrum, Abnormal verte... ORPHA:90653
Mmep Syndrome
Cryptorchidism, Median cleft upper lip, Orofacial cleft, Triphalangeal thumb, Microphthalmia, Man... ORPHA:3434
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... ORPHA:543
Edinburgh Malformation Syndrome
Slender finger, Ulnar deviation of finger, Choanal atresia, Downturned corners of mouth, Joint st... ORPHA:1895
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Rhizomelia, Reduced sperm motility, Proximal femoral metaphyseal irregularity, Con... OMIM:602271
Pde4D Haploinsufficiency Syndrome
Postnatal growth retardation, Micrognathia, Cryptorchidism, Prominent nasal tip, Broad phalanx, B... ORPHA:439822
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Craniolenticulosutural Dysplasia
Carious teeth, Cryptorchidism, High palate, Osteopenia, Thin upper lip vermilion, Narrow iliac wi... OMIM:607812
Chondrodysplasia Punctata 1, X-Linked Recessive
Short distal phalanx of finger, Anosmia, Cataract, Depressed nasal bridge, Hypogonadism, Epiphyse... OMIM:302950
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Micrognathia, Narrow mouth, Radial head subluxation, Patellar dislocation, Short foo... OMIM:614078
Premature Aging Syndrome, Penttinen Type
Thin ribs, Delayed cranial suture closure, Micrognathia, Aplasia of the nasal bone, Flexion contr... OMIM:601812
Holoprosencephaly
Chorioretinal coloboma, Cryptorchidism, Anophthalmia, Encephalocele, Arrhythmia, Microphthalmia, ... ORPHA:2162
Vacterl With Hydrocephalus
Microcornea, Retrognathia, Abnormal optic nerve morphology, Intrauterine growth retardation, Micr... ORPHA:3412
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Clinodactyly, Open mouth, Cryptorchidism, High palate, Short nose, Syndactyly, Downturned corners... ORPHA:369891
Solitary Median Maxillary Central Incisor
Choanal atresia, Anosmia, Anophthalmia, Midnasal stenosis, Microphthalmia, Abnormal nasopharynx m... OMIM:147250
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Broad columella, Underdeveloped nasal alae, Intrauterine growth retardation, Micrognathia, Crypto... ORPHA:166035
Gapo Syndrome
Keratoconus, Micrognathia, Decreased skull ossification, Dysmenorrhea, Everted lower lip vermilio... ORPHA:2067
49,Xxxxy Syndrome
Small scrotum, Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchi... ORPHA:96264
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Anophthalmia, Joint hypermobi... OMIM:610125
Micro Syndrome
Wide nasal bridge, Cataract, Microcornea, Optic atrophy, Retinal coloboma, Joint stiffness, Micro... ORPHA:2510
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Absent Eyebrows And Eyelashes With Impaired Intellectual Development
Encephalocele, Convex nasal ridge, Short nose OMIM:200130
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Flattened epiphysis, High palate, Dislocated radial head, Short me... OMIM:612350
Gombo Syndrome
Radial deviation of finger, Clinodactyly, Delayed puberty, Brachydactyly, Microphthalmia OMIM:233270
Microphthalmia, Syndromic 8
Microcornea, Widely-spaced maxillary central incisors, Cleft upper lip, Cryptorchidism, Orofacial... OMIM:601349
Cohen Syndrome
Finger syndactyly, Genu valgum, Micrognathia, Cryptorchidism, Open mouth, Narrow palm, Arachnodac... ORPHA:193
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cervical myelopathy, Cataract, Depressed nasal bridge, Growth delay, Irregular epiphyses, Attenua... OMIM:619260
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Abnormality of the dentition, Pigmentary retinopathy, Decreased response to growth hormone stimul... ORPHA:3363
Hao-Fountain Syndrome
Premature adrenarche, Delayed cranial suture closure, Large fontanelles, Cryptorchidism, Hallux v... OMIM:616863
Craniometadiaphyseal Dysplasia
Carious teeth, Natal tooth, Absent paranasal sinuses, Broad long bones, Genu valgum, High palate,... OMIM:269300
Hallermann-Streiff Syndrome
Thin ribs, Natal tooth, Chorioretinal coloboma, Micrognathia, Narrow mouth, Cryptorchidism, Telan... OMIM:234100
Kapur-Toriello Syndrome
Cataract, Joint contracture of the hand, Short thumb, Cleft upper lip, Camptodactyly of finger, R... OMIM:244300
Tetraamelia-Multiple Malformations Syndrome
Cataract, Microcornea, Optic atrophy, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia i... ORPHA:3301
Moebius Syndrome
Hand clenching, Clinodactyly, Micrognathia, Lower limb undergrowth, Talipes equinovarus, Micropht... OMIM:157900
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Anteverted nares, Increas... OMIM:618761
Developmental And Epileptic Encephalopathy 73
Cataract, Narrow nasal bridge, Hip dysplasia, Flexion contracture, Short nose OMIM:618379
Rhiny
Anteverted nares, Short nose OMIM:180360
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Abnormal epiphysis morphology, Short 1st metacarpal, Delayed eruption of teet... ORPHA:63442
Greig Cephalopolysyndactyly Syndrome
Keratoconus, Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Delayed cran... OMIM:175700
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Growth delay, Bilateral microphthalmos, Delayed cranial suture closure, Decreased ... ORPHA:93325
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cataract, Anosmia, Tooth malposition, Failure of eruption of permanent teeth, Bifid uvula, Hyposm... ORPHA:2250
Temtamy Syndrome
Aortic regurgitation, Ectopia lentis, Dental crowding, Chorioretinal coloboma, Long philtrum, Mic... OMIM:218340
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Micrognathia, Thick anterior alveolar ridges, Talipes e... ORPHA:2839
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Large fontanelles, Dec... ORPHA:1452
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T lymphocytopenia OMIM:619164
Pseudohypoparathyroidism, Type Ic
Cataract, Depressed nasal bridge, Elevated circulating parathyroid hormone level, Delayed eruptio... OMIM:612462
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Abnormal joint morphology, Flexion contract... ORPHA:485
Nance-Horan Syndrome
Cataract, Microcornea, Abnormality of the dentition, Prominent nose, Prominent nasal bridge, Reti... ORPHA:627
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Optic atrophy, Hypertrophic cardiomyopathy, Micrognathia, Cryptorchidism, Delayed puber... ORPHA:496790
48,Xxyy Syndrome
Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchidism, Radioulna... ORPHA:10
Short Stature, Dauber-Argente Type
Osteopenia, Delayed eruption of teeth, Fasting hyperinsulinemia, Decreased fibular diameter, Post... OMIM:619489
Morm Syndrome
Micropenis, Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Delayed cranial suture closure, Micrognathia, Large fontanelles, High, nar... ORPHA:2780
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Micrognathia, Open mouth, Cryptorchidism, Irregular dentition, Encephalocele, Ta... OMIM:619148
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Osteopenia, Depressed nasal bridge, Decreased response to growth hormone st... OMIM:614732
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Shallow acetabular fossae, Limitation of joint mobility, Cardiomyopathy, Br... OMIM:252600
Periventricular Nodular Heterotopia 7
Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2... OMIM:617201
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Macrodontia, Cubitus valgus, High palate, Short foot,... OMIM:300577
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Dep... OMIM:613849
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... ORPHA:90652
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Microdontia, Thin upper lip v... OMIM:619736
Chung-Jansen Syndrome
Long philtrum, Anteverted nares, Micrognathia, Cryptorchidism, Joint hypermobility, Short philtru... OMIM:617991
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Growth delay, 11 pairs of ribs, Cryptorchidism, Anophthalmia, Hydrocephalus, Microph... ORPHA:77298
Marshall Syndrome
Radial bowing, Thick upper lip vermilion, Micrognathia, Knee osteoarthritis, Absent frontal sinus... OMIM:154780
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Delayed cranial suture closure, Cutaneous finger synd... OMIM:113000
Holoprosencephaly 9
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Cryptorchidism, Anophthalmia, Bilateral c... OMIM:610829
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Long philtrum, Bilateral cryptorchidism, Umbilical hernia, Micrognathia, Promine... OMIM:613544
Warburg Micro Syndrome 2
Cataract, Microcornea, Small scrotum, Optic atrophy, Postnatal growth retardation, Overlapping to... OMIM:614225
Microphthalmia, Lenz Type
Cataract, Microcornea, Hypospadias, Abnormality of the dentition, Finger syndactyly, Chorioretina... ORPHA:568
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Macular degeneration, Concentric hypertrophic cardiomyopathy, Retinal de... OMIM:204200
Laron Syndrome
Severe short stature, Depressed nasal ridge, Hypoplastic nasal bridge, Short toe, Delayed eruptio... ORPHA:633
Codas Syndrome
Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Cataract, Abnormal epiphysis ... ORPHA:1458
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Charge Syndrome
Chorioretinal coloboma, Abnormal tibia morphology, Postnatal growth retardation, Narrow mouth, Cr... ORPHA:138
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Anteverted nares, Micrognath... ORPHA:1832
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Postnatal growth retardation, Intrauterine growth retardation, Micrognathia, Crypt... OMIM:615419
3M Syndrome
Thin ribs, Decreased fertility, Everted lower lip vermilion, Hypoplastic ischia, Hypospadias, Abn... ORPHA:2616
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Broad nasal tip, Bulbous nose, Anteverted nares, Prominent nasal bridge, Anophthalmia ORPHA:411986
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Cryptorchidism, Bowing of the long bones, Chordee, Broad phala... OMIM:166250
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Anteverted nares, Cryptorc... ORPHA:2701
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of retinal pigmentation... ORPHA:3019
Trisomy 18
Narrow mouth, Bilateral single transverse palmar creases, Cryptorchidism, Microphthalmia, Holopro... ORPHA:3380
Odontochondrodysplasia
Dentinogenesis imperfecta, Depressed nasal bridge, Cone-shaped epiphysis, Square pelvis bone, Mic... ORPHA:166272
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Micrognathia, Cryptorchidism, Talipes equinovarus, Radioulnar sy... ORPHA:1988
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Meg... OMIM:228520
Ruvalcaba Syndrome
Small hand, Dental crowding, Micromelia, Underdeveloped nasal alae, Narrow nose, Limited elbow ex... OMIM:180870
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta, Postnatal growth retardation, Intrauterine growth retardation, Severe postnatal g... ORPHA:73272
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Microglossia, Occ... OMIM:241800
Sandestig-Stefanova Syndrome
Wide nasal bridge, Clinodactyly, Retrognathia, Intrauterine growth retardation, Microphthalmia, B... OMIM:618804
Chromosome 16Q22 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Growth delay, Broad hallux, Postnatal growth retardati... OMIM:614541
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Micrognathia, Narrow mouth, Cryptorchidism, Abnormal metacarpal morphology, Mi... ORPHA:284160
Chromosome 8Q21.11 Deletion Syndrome
Wide nasal bridge, Cataract, Pigmentary retinopathy, Downturned corners of mouth, Underdeveloped ... OMIM:614230
Microphthalmia With Linear Skin Defects Syndrome
Clitoral hypertrophy, Micrognathia, Mitral regurgitation, Anophthalmia, Abnormal vitreous humor m... ORPHA:2556
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Carious teeth, Periodontitis, Osteomalacia, Open bite, Genu valgum, Micrognathia, Cr... ORPHA:534
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cup... OMIM:300863
Short Syndrome
Clinodactyly, Insulin-resistant diabetes mellitus, Megalocornea, Micrognathia, Ovarian cyst, Cata... OMIM:269880
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Megalocornea, Prominent scalp veins, Subluxation of the small joints of th... ORPHA:536471
Rothmund-Thomson Syndrome, Type 2
Small hand, Micrognathia, Cryptorchidism, Telangiectasia, Talipes equinovarus, Microphthalmia, Hi... OMIM:268400
Hurler Syndrome
Mitral regurgitation, Diaphyseal undertubulation, Calvarial hyperostosis, Aortic regurgitation, B... OMIM:607014
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Mandibular prognathia, Broad nasal tip, Depressed nasal bridge, Myopic ast... OMIM:152950
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Roberts Syndrome
Clitoral hypertrophy, Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation... ORPHA:3103
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Hydrocephalus, Microphthalmia ORPHA:141333
48,Xxxy Syndrome
Small scrotum, Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchi... ORPHA:96263
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Depressed nasal bridge,... ORPHA:2097
Osteoglosphonic Dysplasia
Severe short stature, Choanal atresia, Rhizomelia, Tooth agenesis, Anteverted nares, Micrognathia... ORPHA:2645
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Carious teeth, Fibular bowing, Secondary hyperparathyroidism, Ri... OMIM:277440
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Choanal atresia, Optic atrophy, Peters anomaly, Chorioretinal coloboma, Postnatal gr... ORPHA:494344
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Micrognathia, Cleft soft palate, Cryptorchidism, Short nose, Oligodont... OMIM:616331
Chromosome 19Q13.11 Deletion Syndrome, Distal
Carious teeth, Postnatal growth retardation, Overlapping toe, Cutaneous finger syndactyly, Microg... OMIM:613026
Bardet-Biedl Syndrome 9
Irregular menstruation, Cataract, Postaxial foot polydactyly, Attenuation of retinal blood vessel... OMIM:615986
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Clinodactyly, Cryptorchidism, Short foot, Curved ... OMIM:305400
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Cry... OMIM:609945
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Micrognathia, Decreased skull ossification, Multiple prenatal fractur... OMIM:616897
Filippi Syndrome
Wide nasal bridge, Optic atrophy, 2-4 toe syndactyly, Finger clinodactyly, Underdeveloped nasal a... OMIM:272440
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... OMIM:184260
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Dislocation of the femoral head, Genu valgum, Micrognathia, Narr... OMIM:616007
Cornelia De Lange Syndrome 5
Small hand, Toe syndactyly, Postnatal growth retardation, Micrognathia, Cryptorchidism, High pala... OMIM:300882
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Short nose ORPHA:1355
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Optic atrophy, Camptodactyly of finger, Intrauterine growth retardation, Micrognathia, Narrow mou... ORPHA:1495
Warburg Micro Syndrome 4
Small scrotum, Microcornea, Optic atrophy, Long philtrum, Decreased testicular size, Anteverted n... OMIM:615663
Joubert Syndrome 14
Optic atrophy, Growth delay, Prominent nasal bridge, Open mouth, Malar flattening, Tented upper l... OMIM:614424
Coffin-Siris Syndrome 2
Short distal phalanx of finger, Depressed nasal bridge, Delayed eruption of teeth, Sandal gap, Lo... OMIM:614607
Distal Deletion 6P
Ectopia pupillae, Micrognathia, Talipes equinovarus, Posterior embryotoxon, Short foot, Wide nose... ORPHA:96125
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Short nose ORPHA:2015
Pycnodysostosis
Small hand, Carious teeth, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, ... ORPHA:763
4H Leukodystrophy
Cataract, Optic atrophy, Abnormality of the dentition, Delayed eruption of teeth, Decreased respo... ORPHA:289494
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Long philtrum, Micrognathia, Narrow mou... ORPHA:261120
Acromicric Dysplasia
Severe short stature, Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morpholog... ORPHA:969
Donnai-Barrow Syndrome
Cataract, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the iris, Umbilical hernia, Mala... OMIM:222448
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Open mouth, Everted lower lip vermilion, Large hands, High palate, Sho... ORPHA:192
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Elbow dislocation, Bifid scrotum, Long ... ORPHA:93328
Microphthalmia, Syndromic 3
Cataract, Optic nerve aplasia, Postnatal growth retardation, Cryptorchidism, Anophthalmia, Missin... OMIM:206900
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Coronal craniosynostosis, Small scrotum, Depressed nasal bridge, Conical tooth, Abnormality of th... ORPHA:228390
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Median cleft palate, Abnormality of the fontanelles or cranial sutures, Corneal opac... ORPHA:2432
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Clitoral hypertrophy, Nat... ORPHA:313855
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Abnormality of the dentition, Retinal degeneration, Microphthalmia OMIM:251700
Bartsocas-Papas Syndrome
Synostosis of joints, Toe syndactyly, Absent thumb, Finger syndactyly, Popliteal pterygium, Under... ORPHA:1234
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Hand clenching, Congenital hip dislocation, Subdural hemorrhage, Overlapping fingers, Micrognathi... OMIM:618291
Cerebrooculonasal Syndrome
Long philtrum, Widely spaced teeth, Anophthalmia, Postaxial hand polydactyly, Microdontia, Solita... ORPHA:66625
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Cataract, Depressed nasal bridge, Optic atrophy, Short nose, Intrauterine growth retardation, Mic... OMIM:619833
Frank-Ter Haar Syndrome
Wide nasal bridge, Depressed nasal bridge, Genu recurvatum, Delayed eruption of teeth, Camptodact... ORPHA:137834
De Barsy Syndrome
Prominent veins on trunk, Postnatal growth retardation, Narrow mouth, Cryptorchidism, Talipes equ... ORPHA:2962
Lowry-Maclean Syndrome
Delayed eruption of teeth, Intrauterine growth retardation, Convex nasal ridge, Craniosynostosis,... OMIM:600252
Verheij Syndrome
Short 5th finger, Wide nasal bridge, Broad nasal tip, Growth delay, Clinodactyly, Retrognathia, B... OMIM:615583
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D... OMIM:311300
Hallermann-Streiff Syndrome
Small hand, Rib exostoses, Natal tooth, Micrognathia, Narrow mouth, Cryptorchidism, Microphthalmi... ORPHA:2108
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc... ORPHA:3258
Cutis Marmorata Telangiectatica Congenita
Toe syndactyly, Arteriovenous malformation, Finger syndactyly, Subcutaneous hemorrhage, Arterial ... ORPHA:1556
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis... OMIM:260660
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Long philtrum, Juvenile cataract, Thin upper lip vermilion, Smooth philtr... ORPHA:438178
Bartsocas-Papas Syndrome 2
Axillary pterygium, Small hand, Popliteal pterygium, Micrognathia, Microphthalmia, Absent distal ... OMIM:619339
Temple-Baraitser Syndrome
Broad thumb, Everted upper lip vermilion, Long hallux, Open mouth, Everted lower lip vermilion, H... ORPHA:420561
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Small hand, Broad thumb, Postnatal growth retardation, Micrognathia, Narrow mouth, Cryptorchidism... ORPHA:251028
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Coronal craniosynostosis, Small hand, Depressed nasal bridge, Aortic root aneu... OMIM:145420
3C Syndrome
Aortic valve stenosis, Finger syndactyly, Chorioretinal coloboma, Postnatal growth retardation, M... ORPHA:7
Oculodentodigital Dysplasia
Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Micrognathia, Arrhythmia, Short h... ORPHA:2710
Sjogren-Larsson Syndrome
Macular degeneration, Retinal thinning, Astigmatism, Macular dots, Enamel hypoplasia, Opacificati... OMIM:270200
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Limitation of joint mobility, Camptodactyly of finger, Micrognathia, Short nose, Microphthalmia, ... ORPHA:2547
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Cryptorchidism, Abnor... ORPHA:251014
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of ... ORPHA:163966
Bresek Syndrome
Growth delay, Decreased testicular size, Intrauterine growth retardation, Cryptorchidism, Hydroce... ORPHA:85284
Smith-Magenis Syndrome
Toe syndactyly, Micrognathia, Open mouth, Delayed eruption of primary teeth, Retinal detachment, ... ORPHA:819
Witteveen-Kolk Syndrome
Flared nostrils, Small hand, Toe syndactyly, Clinodactyly, Male urethral meatus stenosis, Hyperpl... OMIM:613406
Duane Retraction Syndrome
Chorioretinal coloboma, Micrognathia, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Evert... ORPHA:233
Ohdo Syndrome
Wide nasal bridge, Small scrotum, Depressed nasal bridge, Long philtrum, Widely spaced teeth, Ant... OMIM:249620
Chromosome 3Pter-P25 Deletion Syndrome
Postnatal growth retardation, Overlapping toe, Micrognathia, Cryptorchidism, High palate, Broad n... OMIM:613792
Potocki-Shaffer Syndrome
Wide nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Single transverse palm... OMIM:601224
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Craniosynostosis, Herrmann-Opitz Type
Micromelia, Finger syndactyly, Intrauterine growth retardation, Micrognathia, Malar flattening, S... ORPHA:2145
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Postnatal growth retardation, Large fontanelles, Flat acetabular... OMIM:613320
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Elevated circulating luteinizing hormone level, Limitation of joint mobilit... ORPHA:95699
Trichothiodystrophy
Carious teeth, Cryptorchidism, Clubbing, High, narrow palate, Osteopenia, Microcornea, Macular de... ORPHA:33364
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Cataract, Rhizomelia, Microcornea, Long philtrum, Ectopia pupillae, Anophthal... OMIM:615877
Mietens Syndrome
Elbow dislocation, Elbow ankylosis, Abnormal fibula morphology, Hip dislocation, Short nose, Wide... ORPHA:2557
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Pursed lips, Postnatal growth retardation, Narrow mouth, Cryptorch... OMIM:193700
Trisomy 9P
Dental crowding, Downturned corners of mouth, Impacted tooth, Abnormal pupil morphology, Bilatera... ORPHA:236
Dubowitz Syndrome
Small hand, Broad thumb, Toe syndactyly, Delayed cranial suture closure, Abnormal female external... ORPHA:235
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the costochondral junction, Postnatal growth retardation, Stippling of the epiphys... ORPHA:79345
1Q21.1 Microdeletion Syndrome
Broad thumb, Toe syndactyly, Ankyloglossia, Cryptorchidism, Talipes equinovarus, Microphthalmia, ... ORPHA:250989
Dysosteosclerosis
Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Absent frontal sinus... OMIM:224300
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Postaxial foot polydactyly, Hypogonadism, External genital hypoplasia, Re... OMIM:615981
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Broad columella, Underdeveloped nasal alae, Diastema, Micrognathia, Malar fl... ORPHA:436245
Hartsfield Syndrome
Depressed nasal bridge, Aplasia/Hypoplasia of the radius, Intrauterine growth retardation, Enceph... ORPHA:2117
Joubert Syndrome 15
Preaxial polydactyly, Retinopathy, Exencephaly, Ambiguous genitalia, Micropenis, Retinal dystrophy OMIM:614464
Emanuel Syndrome
Aortic valve stenosis, Tooth malposition, Micrognathia, Cryptorchidism, High palate, Patent ductu... ORPHA:96170
14Q22Q23 Microdeletion Syndrome
Small scrotum, Toe syndactyly, Finger syndactyly, Micrognathia, Bilateral single transverse palma... ORPHA:264200
Pseudoachondroplasia
Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al... ORPHA:750
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... OMIM:268310
Incontinentia Pigmenti
Finger syndactyly, Supernumerary nipple, Abnormal hand morphology, Retinal detachment, Microphtha... ORPHA:464
Marden-Walker Syndrome
High, narrow palate, Joint contracture of the hand, Congenital contracture, Long philtrum, Postna... OMIM:248700
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy, Microphthalmia, Shallow ante... OMIM:267760
Seckel Syndrome 1
Ivory epiphyses, Clitoral hypertrophy, Postnatal growth retardation, Micrognathia, Cryptorchidism... OMIM:210600
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Small hand, Depressed nasal bridge, Bifid uvula, Long philtrum, Decreased ... OMIM:241410
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Retinal coloboma, Hypogonadism, Cryptorchidism, Hydrocephalus, Rod-cone dystrophy, Micr... OMIM:601794
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Broad 2nd toe, Arachnodactyly, 2-3 finger syndactyly, Broad toe, ... ORPHA:1692
Microphthalmia, Syndromic 6
Lambdoidal craniosynostosis, Small scrotum, Toe syndactyly, Finger syndactyly, Thumb contracture,... OMIM:607932
Sjögren-Larsson Syndrome
Macular degeneration, Abnormal dental enamel morphology, Joint stiffness, Retinopathy, Abnormalit... ORPHA:816
Adams-Oliver Syndrome 2
Depressed nasal bridge, Optic atrophy, Bulbous nose, Micrognathia, Absent distal phalanges, Singl... OMIM:614219
Donnai-Barrow Syndrome
Depressed nasal bridge, Abnormality of the uterus, Umbilical hernia, Retinal detachment, Retinal ... ORPHA:2143
Monosomy 9Q22.3
Palmar pits, Cataract, Delayed eruption of teeth, Long philtrum, Umbilical hernia, Narrow mouth, ... ORPHA:77301
Marshall Syndrome
Thick upper lip vermilion, Micrognathia, Genu valgum, Abnormal vitreous humor morphology, Retinal... ORPHA:560
Pseudohypoparathyroidism Type 1B
Cataract, Pituitary resistance to thyroid hormone, Depressed nasal bridge, Elevated circulating p... ORPHA:94089
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Depressed nasal bridge, Limitation of joint mobility, Ocular alb... ORPHA:2719
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, V... OMIM:143200
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Limitation of joint mobility, Limited hip movement, Ankyloglossia, Microgn... ORPHA:740
Stuve-Wiedemann Syndrome 1
Thin ribs, Wide nasal base, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal ra... OMIM:601559
Cockayne Syndrome A
Carious teeth, Square pelvis bone, Limitation of joint mobility, Hypoplastic iliac wing, Cryptorc... OMIM:216400
Frontorhiny
Cataract, Hypoplasia of the maxilla, Cranium bifidum occultum, Finger clinodactyly, Camptodactyly... ORPHA:391474
Yunis-Varon Syndrome
Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge... ORPHA:3472
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Arrhythmia, Everted lower lip vermilion, High palate, Anterior open-bite malocclusion, Short nose... OMIM:617877
Cerebrooculofacioskeletal Syndrome 4
Micrognathia, Dislocated radial head, Hip dislocation, Bilateral microphthalmos, Knee flexion con... OMIM:610758
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cryptorchidism, Talipes equinovarus, Retinal detachment, Everted lower lip vermilion, Finger join... OMIM:620371
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Fibular bowing, Secondary hyperparathyroidism, Rickets, Bulging ... OMIM:264700
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Postnatal growth retardation, Intrauterine growth retardation, Oligohydramnios ORPHA:397590
Burn-Mckeown Syndrome
Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia, Short nose ORPHA:1200
Gomez-Lopez-Hernandez Syndrome
Decreased response to growth hormone stimulation test, Anteverted nares, Malar flattening, Wormia... OMIM:601853
Jacobsen Syndrome
Chorioretinal coloboma, Micrognathia, Cryptorchidism, Microphthalmia, Holoprosencephaly, Hypospad... OMIM:147791
Congenital Rubella Syndrome
Cataract, Type I diabetes mellitus, Intrauterine growth retardation, Aplasia/Hypoplasia of the ir... ORPHA:290
Bcard Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Postnatal growth retardation... OMIM:612394
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Coarse metaphyseal trabecularization, Anteverted nares, Short ribs, Limb ... OMIM:618961
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Cryptorchidism, Encephalocele, Microphthalmia, Flat acetabular roof, Pa... OMIM:616300
Tarp Syndrome
Clinodactyly, Micrognathia, Large fontanelles, Talipes equinovarus, Bilateral talipes equinovarus... OMIM:311900
Peho-Like Syndrome
Optic atrophy, Retrognathia, Open mouth, Short nose, Tapered finger OMIM:617507
Triploidy
Cataract, Hypospadias, Finger syndactyly, Intrauterine growth retardation, Micrognathia, Narrow m... ORPHA:3376
Distal Duplication 5Q
Carious teeth, Absent thumb, Chorioretinal coloboma, Long philtrum, Micrognathia, Prominent nasal... ORPHA:96097
Osteogenesis Imperfecta
Thin ribs, Carious teeth, Aortic root aneurysm, Abnormal tibia morphology, Genu valgum, Micrognat... ORPHA:666
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Rod-cone dystrophy, Foot polydactyly, High palate, Short foot, Retina... OMIM:209900
Bent Bone Dysplasia Syndrome 1
Coronal craniosynostosis, Clitoral hypertrophy, Abnormally large globe, Natal tooth, Micrognathia... OMIM:614592
Diabetes Insipidus, Neurohypophyseal
Short nose, Wide nose OMIM:125700
Oculodentodigital Dysplasia
Carious teeth, Clinodactyly, Joint contracture of the 5th finger, Arrhythmia, Microphthalmia, Hig... OMIM:164200
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Postn... OMIM:200990
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Growth delay, Clinodactyly, Bulbous nose, Anteverted nares, Micrognathia, Open... OMIM:613604
Achondrogenesis Type 1B
Severe short stature, Disproportionate short stature, Abnormal enchondral ossification, Micromeli... ORPHA:93298
Elsahy-Waters Syndrome
Megalocornea, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, I... OMIM:211380
Scheie Syndrome
Aortic valve stenosis, Aortic regurgitation, Depressed nasal bridge, Genu valgum, Mitral stenosis... OMIM:607016
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Alopeci... OMIM:602450
Non-Distal Duplication 13Q
Abnormality of the dentition, Long philtrum, Micrognathia, Cryptorchidism, Arachnodactyly, Aplasi... ORPHA:1702
Acrocraniofacial Dysostosis
Broad thumb, Genu valgum, Micrognathia, Choanal atresia, Ulnar deviation of finger, Short 1st met... ORPHA:949
Joubert Syndrome 37
Wide nasal bridge, Decreased testicular size, Anteverted nares, Cryptorchidism, Prominent metopic... OMIM:619185
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Microphthalmia ORPHA:1528
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Micrognathia, Cryptorchidism, Talipes equinovarus, Radioulnar synostosis, Short... OMIM:194190
Perlman Syndrome
Wide nasal bridge, High, narrow palate, Retrognathia, Abnormal pancreas morphology, Anteverted na... ORPHA:2849
Harel-Yoon Syndrome
Optic atrophy, Hypertrophic cardiomyopathy, Micrognathia, Developmental cataract, Corneal opacity... OMIM:617183
Bardet-Biedl Syndrome 17
Anosmia, Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Macular atrophy, P... OMIM:615994
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Bruising susceptibility... ORPHA:49042
Three M Syndrome 1
Postnatal growth retardation, Hypospadias, Hip dislocation, Short 5th finger, Joint dislocation, ... OMIM:273750
Acrofacial Dysostosis, Catania Type
Abnormality of the dentition, Small hand, Carious teeth, Microretrognathia, Finger syndactyly, Hy... ORPHA:1786
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Fraser Syndrome 1
Clitoral hypertrophy, Cutaneous finger syndactyly, Cryptorchidism, Anophthalmia, Encephalocele, A... OMIM:219000
Ceroid Lipofuscinosis, Neuronal, 1
Vascular granular osmiophilic material deposition, Optic atrophy, Macular degeneration, Retinal d... OMIM:256730
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Cryptorchidi... OMIM:146510
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Wide nasal bridge, Cataract, Microretrognathia, Cleft lip, Downturned corners of mouth, Long phil... OMIM:618571
Charge Syndrome
Postnatal growth retardation, Unilateral microphthalmos, Micrognathia, Cryptorchidism, Anophthalm... OMIM:214800
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Bidirectional ventricular ectopy, Micrognathia, High palate, Short fo... OMIM:170390
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Depressed nasal ridge, Palmoplantar keratoderma, Delayed eruption of teeth, Decreased fertility, ... ORPHA:1816
Achondrogenesis Type 1A
Severe short stature, Micromelia, Abnormal enchondral ossification, Long philtrum, Umbilical hern... ORPHA:93299
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Small hand, Carious teeth, Delayed cranial suture closure, Postnatal growth retardatio... ORPHA:93324
Chromosome 3Q29 Duplication Syndrome
Wide nasal bridge, Bulbous nose, Abnormally large globe, Short nose OMIM:611936
C Syndrome
Clitoral hypertrophy, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micrognathia, Cry... OMIM:211750
Chondrodysplasia Punctata, Autosomal Dominant
Cataract, Moderate postnatal growth retardation, Epiphyseal stippling, Knee flexion contracture, ... OMIM:118650
Mosaic Trisomy 9
Limitation of joint mobility, Elbow dislocation, Micrognathia, Large fontanelles, Cryptorchidism,... ORPHA:99776
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Short thumb, Long philtrum, Prominent nasal bridge, Limited elbow extension an... ORPHA:401935
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Hypogo... ORPHA:1135
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Trisomy 12P
Wide nasal bridge, Downturned corners of mouth, Supernumerary nipple, Micrognathia, Aplasia/Hypop... ORPHA:1699
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Eiken Syndrome
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,... OMIM:600002
Traboulsi Syndrome
Arachnodactyly, Microphthalmia, High palate, Wide nose, Cataract, Anterior synechiae of the anter... OMIM:601552
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Microphthalmia, ... OMIM:251270
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Microphthalmia, Iris coloboma, Cataract, Polydact... OMIM:109400
Cat-Eye Syndrome
Chorioretinal coloboma, Abnormal rib morphology, Intrauterine growth retardation, Microphthalmia,... ORPHA:195
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Cataract, Disproportionate short stature, ... ORPHA:1856
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Cone-shaped epiphysis, Delayed eruption of teeth, Prominent nasal brid... ORPHA:71267
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Clinodactyly, Brachydactyly, Ocular anterior segment dysgenesis, Microphthalmia, ... OMIM:610023
Proboscis Lateralis
Chorioretinal coloboma, Anophthalmia, Microphthalmia, High palate, Holoprosencephaly, Iris colobo... ORPHA:141099
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Ectopia lentis, Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Sho... ORPHA:2325
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Pear-shap... OMIM:190350
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Retinal coloboma, Hypogonadism, External genital hypoplasia, Cryptorchidism, Rod-cone d... ORPHA:363741
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Small hand, Depressed nasal bridge, Abnormality of the dentition, Long phi... ORPHA:2323
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Cleft mandible, Everted lower lip vermilion, Microphthalmia, Short nose, Pierre-Robin sequence, A... ORPHA:364577
Mend Syndrome
Aortic valve stenosis, Cataract, Asymmetry of the mouth, Broad hallux, Overlapping toe, Overlappi... ORPHA:401973
Nanophthalmos
Microphthalmia ORPHA:35612
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Short distal phalanx of finger, Anosmia, Hypoplasia of the zygomatic bone, Bifid scrotum, Joint s... ORPHA:1295
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Micrognathia, Rod-cone dystr... OMIM:266920
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Carious teeth, Aortic root aneurysm, Postnatal growth retardation, Dysplasia of the femoral head,... ORPHA:536467
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Abnormal cementum morphology, Mandibular osteomyelitis, Dent... ORPHA:83451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cardiomyopathy, Hydrocephalus, Developmental cataract, Microphthalmia, Macroglossia, Abnormal lef... OMIM:613155
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia OMIM:218670
Maxillonasal Dysplasia
Short distal phalanx of finger, Hypoplasia of the maxilla, Depressed nasal ridge, Depressed nasal... ORPHA:1248
Rothmund-Thomson Syndrome Type 2
Carious teeth, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limbs, Cryptorch... ORPHA:221016
Frontofacionasal Dysplasia
Cataract, Microcornea, Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal b... ORPHA:1791
Branchiooculofacial Syndrome
Supernumerary nipple, Ectopic thymus tissue, Postnatal growth retardation, Micrognathia, Cryptorc... OMIM:113620
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... ORPHA:85128
Ruvalcaba Syndrome
Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Dental crowding, Abnor... ORPHA:3121
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Abnormal pupil morphology, Flexion contracture, Joint con... OMIM:160565
Hypophosphatasia, Infantile
Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Abnormality of the dentition, ... OMIM:241500
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Severe short stature, Mandibular prognathia, Cone-shaped epiphysis, Unilateral cleft lip, Delayed... ORPHA:2511
Werner Syndrome
Cataract, Hypogonadism, Retinal degeneration, Premature arteriosclerosis, Convex nasal ridge, Sho... OMIM:277700
Craniometaphyseal Dysplasia, Autosomal Recessive
Wide nasal bridge, Depressed nasal ridge, Mandibular prognathia, Optic atrophy, Flared metaphysis... OMIM:218400
Smith-Kingsmore Syndrome
Short distal phalanx of finger, Rhizomelia, Depressed nasal bridge, Long philtrum, Umbilical hern... OMIM:616638
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Orofacial cleft, Hydrocephalus, Ocular anterior segment dysgenesis, Deve... ORPHA:324416
Alkuraya-Kucinskas Syndrome
Hand clenching, Cataract, Small scrotum, Depressed nasal bridge, Clinodactyly, Overlapping toe, O... OMIM:617822
Momo Syndrome
Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Chorioretinal coloboma, Bilatera... ORPHA:2563
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Wide nasal bridge, Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Depressed... OMIM:617102
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Microphthalmia OMIM:614830
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Mitral regurgitation, Carpal bone hypoplasia, Disproportionate shor... ORPHA:457395
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Clinodactyly, Micrognathia, Narrow mouth, Short nose, Wide nose, Slender finger, Downturned corne... ORPHA:391408
Codas Syndrome
Congenital hip dislocation, Absent epiphyses, Cataract, Rectovaginal fistula, Delayed eruption of... OMIM:600373
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth... ORPHA:166277
Frank-Ter Haar Syndrome
Megalocornea, Delayed cranial suture closure, Micrognathia, Bowing of the long bones, Talipes equ... OMIM:249420
Hec Syndrome
Cardiomyopathy, Abnormal pupil morphology, Arrhythmia, Vaginal hydrocele, Abnormal retinal vascul... ORPHA:2119
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Small scrotum, Underdeveloped nasal alae, Camptodactyly of finger, Intrauterine growth retardatio... ORPHA:2083
16P12.1P12.3 Triplication Syndrome
Short 5th finger, High, narrow palate, Prominent fingertip pads, Retrognathia, Bilateral cryptorc... ORPHA:485405
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral triphalangeal thumbs, Short distal phalanx of finger, Precocious puberty, Anteverted na... OMIM:619356
Apert Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Large fontanelles, Aplasia/Hypoplasia of the thum... ORPHA:87
Seckel Syndrome 2
Microglossia, Growth delay, Prominent nose, Micrognathia, Heart murmur, Microdontia, Microphthalm... OMIM:606744
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Microcornea, Long philtrum, Congestive heart failure, Umbilical hernia, Micrognath... ORPHA:2505
Sorsby Pseudoinflammatory Fundus Dystrophy
Pigmentary retinopathy, Choroidal neovascularization, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short columella, Short nose OMIM:155050
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Genu varum, Short nose, Short dental root, Osteopenia, Disproportionate short-limb s... OMIM:271510
Cutis Laxa, Autosomal Recessive, Type Iiia
Congenital hip dislocation, Cataract, Umbilical hernia, Intrauterine growth retardation, Large fo... OMIM:219150
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Depressed nasal bridge, Broad hallux, Retinal pigment epithelial mottling, Long philtru... OMIM:614105
Roifman Syndrome
Epiphyseal dysplasia, Short toe, Underdeveloped nasal alae, Downturned corners of mouth, Long phi... ORPHA:353298
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose ORPHA:1450
Trisomy 17P
Aortic valve stenosis, Micrognathia, Narrow mouth, High palate, Patent ductus arteriosus, Wide no... ORPHA:261290
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Cataract, Retinal thinning, Genu valgum, Asteroid hyalosis, Narrow mouth, B... OMIM:132450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Optic atrophy, Congenital contracture, Peters anomaly, Cleft upper lip, Megalocornea, O... OMIM:236670
Robinow Syndrome, Autosomal Dominant 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short lingual f... OMIM:180700
Nance-Horan Syndrome
Posterior Y-sutural cataract, Microcornea, Diastema, Supernumerary maxillary incisor, Prominent n... OMIM:302350
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short distal phalanx of finger, Broad columella, Underdeveloped nasal alae, Hypoautofluorescent r... OMIM:250410
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N... OMIM:235510
Woolly Hair Nevus
Precocious puberty, Heterochromia iridis, Brachydactyly, Persistent pupillary membrane, Widely-sp... ORPHA:79414
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract, Carious teeth, High iliac wing, Hypoplasia of the maxilla, Delayed ... ORPHA:50814
Rothmund-Thomson Syndrome Type 1
Carious teeth, Patellar aplasia, Cryptorchidism, Telangiectasia, Premature ovarian insufficiency,... ORPHA:221008
Multiple Pterygium-Malignant Hyperthermia Syndrome
Small scrotum, Finger syndactyly, Narrow mouth, Cryptorchidism, Arachnodactyly, Talipes equinovar... ORPHA:2215
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Natal tooth, Distal shortening of limbs, Micrognathia, Protruding tongue, B... ORPHA:50945
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Micrognathia, Osteopetrosis, Microphthalmia, Iris transillumination defect... OMIM:617306
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Sub-RPE deposits, Chorioretinal ... OMIM:605670
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Aymé-Gripp Syndrome
Reduced arm span, Limitation of joint mobility, Megalocornea, Delayed cranial suture closure, Pos... ORPHA:1272
Mirage Syndrome
Microphallus, Radial club hand, Decreased testicular size, Overlapping fingers, Adrenal insuffici... OMIM:617053
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Optic atrophy, Joint hypermobility, Wormian bones, Brachydactyly,... ORPHA:2787
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Cataract, Gastrointestinal hemorrhage, Optic atrophy, Arteriovenous malformation, Pulmonary embol... ORPHA:394
Aspergillosis
Keratitis, Nasal congestion, Osteomyelitis, Abnormal long bone morphology, Stroke, Sinusitis, Abn... ORPHA:1163
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Postnatal growth retardation, Arrhythmia, Long nose, Hypospadias, Pierre-Robin sequence, Bicorona... OMIM:619184
Distal Deletion 10Q
Clinodactyly, Postnatal growth retardation, Micrognathia, High palate, Patent ductus arteriosus, ... ORPHA:96148
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Dental crowding, Underdeve... OMIM:190351
Van Maldergem Syndrome 2
Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Cryptorchidism, Irregular dentition, Tal... OMIM:615546
Pfeiffer Syndrome
Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe... OMIM:101600
Isolated Ectopia Lentis
Cataract, Mandibular prognathia, Ectopia lentis, Ectopia pupillae, Joint stiffness, Malar flatten... ORPHA:1885
Foxp1 Syndrome
Recurrent upper respiratory tract infections, Broad nasal tip, Clinodactyly, Prominent fingertip ... ORPHA:391372
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Optic atrophy, Chorioretinal coloboma, Bilateral cleft palate, Posterior embryotoxon, R... ORPHA:1473
Marbach-Rustad Progeroid Syndrome
Growth delay, Eruption failure, Intrauterine growth retardation, Micrognathia, Reduced bone miner... OMIM:619322
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Moyamoya phenomenon, Hypoplastic iliac wing... OMIM:210720
Focal Dermal Hypoplasia
Toe syndactyly, Finger syndactyly, Chorioretinal coloboma, Open bite, Microphthalmia, Iris colobo... ORPHA:2092
Pycnodysostosis
Aplastic clavicle, Narrow palate, Carious teeth, Persistent open anterior fontanelle, Persistence... OMIM:265800
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta, Slender long bone, Decreased circulating osteocalcin level, Intrauteri... OMIM:619795
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Severe short stature, ... OMIM:132400
Coffin-Siris Syndrome 3
Depressed nasal bridge, Long philtrum, Umbilical hernia, Anteverted nares, Wide mouth, Intrauteri... OMIM:614608
Craniofacial-Deafness-Hand Syndrome
Depressed nasal ridge, Hypoplasia of the maxilla, Ulnar deviation of finger, Depressed nasal brid... ORPHA:1529
Pseudohypoparathyroidism Type 1C
Short metacarpal, Cataract, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd me... ORPHA:79444
Difference Of Sex Development-Intellectual Disability Syndrome
Small scrotum, Downturned corners of mouth, Hypogonadism, Genu valgum, Short philtrum, Thin vermi... ORPHA:2983
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Craniofacial hyperostosis, Tooth malposition, De... ORPHA:2484
Treacher-Collins Syndrome
Small scrotum, Open bite, Micrognathia, Narrow mouth, Cryptorchidism, Encephalocele, Microphthalm... ORPHA:861
Char Syndrome