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Gene: Alkbh1 MGI:2384034

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Gene Summary

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

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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
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
abnormal ileum 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
abnormal liver morphology Alkbh1tm1b(EUCOMM)Hmgu HET Late 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.

Electrocardiogram (ECG)

Waveform Image

36 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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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
Oculofaciocardiodental Syndrome
2-3 toe syndactyly, Cleft palate, Oligodontia, Cubitus valgus, Delayed eruption of teeth, Iris co... ORPHA:2712
Cofs Syndrome
Optic atrophy, Micrognathia, Abnormality of retinal pigmentation, Microphthalmia, Intrauterine gr... ORPHA:1466
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Microphthalmia, Bilateral microphthalmos OMIM:611638
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Pierre-Robin sequence, Lens subluxation, Short ... ORPHA:93296
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Cerebral hemorrhage, Moyamoya phenomenon, Short stature, Azoospermia, Bro... OMIM:300845
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Cleft palate, Malar flattening, Joint contracture of the hand, Short ribs, Hydrocephalus, Camptod... OMIM:224400
Marshall Syndrome
Cleft palate, Short stature, Short nose, Malar flattening, Anteverted nares, Hypoplasia of the ma... ORPHA:560
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Microphthalmia, Short philtrum, Cloverleaf skull, Large fontanelles, Abnormality of... ORPHA:93267
Temtamy Syndrome
Micrognathia, Convex nasal ridge, Short 2nd toe, Chorioretinal coloboma, Talipes equinovarus, Ect... OMIM:218340
Warburg Micro Syndrome 3
Hypoplastic labia minora, Optic atrophy, Micrognathia, Microcornea, Shallow anterior chamber, Dev... OMIM:614222
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Neural tube defect OMIM:600776
Placental Insufficiency
Eclampsia, Preeclampsia, Intrauterine growth retardation, Maternal hypertension, Proportionate sh... ORPHA:439167
Marshall Syndrome
Irregular proximal tibial epiphyses, Cleft palate, Pierre-Robin sequence, Short stature, Irregula... OMIM:154780
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Cerebrooculofacioskeletal Syndrome 2
Large beaked nose, Micrognathia, Convex nasal ridge, Developmental cataract, Microphthalmia, Rock... OMIM:610756
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Weill-Marchesani Syndrome 2
Short stature, Short metatarsal, Broad skull, Hypoplasia of the maxilla, Aortic valve stenosis, U... OMIM:608328
Spondyloepiphyseal Dysplasia, Nishimura Type
Cleft palate, Anterior plagiocephaly, Short nose, Abnormality of cranial sutures, Slender finger,... ORPHA:163649
Kniest Dysplasia
Rhegmatogenous retinal detachment, Cleft palate, Pierre-Robin sequence, Abnormal bone structure, ... ORPHA:485
Trisomy 13
Cleft palate, Abnormal morphology of female internal genitalia, Malar flattening, Iris coloboma, ... ORPHA:3378
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Microphthalmia, Growth delay, Short stature, Brachycephaly, Hypogonadism, Narrow mou... ORPHA:2528
Weill-Marchesani Syndrome 1
Short stature, Broad skull, Hypoplasia of the maxilla, Aortic valve stenosis, Broad palm, Depress... OMIM:277600
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Metaphyseal irregularity, Cupped ribs, Brachydactyly, Coloboma, Short phalanx o... ORPHA:85167
Microphthalmia With Limb Anomalies
Cleft palate, Talipes equinovarus, Short nose, Postnatal growth retardation, Toe syndactyly, Tibi... OMIM:206920
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia, Syndromic 12
Anophthalmia, Broad nasal tip, Microphthalmia, Wide nasal bridge OMIM:615524
Schwartz-Jampel Syndrome
Odontogenic neoplasm, Cleft palate, Hip contracture, Talipes equinovarus, Short stature, Increase... ORPHA:800
Warburg Micro Syndrome 1
Microcornea, Optic atrophy, Micrognathia, Developmental cataract, Microphthalmia, Short stature, ... OMIM:600118
Microspherophakia-Metaphyseal Dysplasia
Irregular epiphyses, Metaphyseal dysplasia, Lens coloboma, Growth delay, Lens subluxation, Short ... OMIM:157151
Temtamy Preaxial Brachydactyly Syndrome
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Oligodontia, Short stature, Short n... ORPHA:363417
Anencephaly 2
Anophthalmia, Anencephaly, Bifid nose OMIM:619452
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Prominent nose, Micrognathia, Optic disc pallor, Macular atrophy, Optic atrophy, Microphthalmia, ... OMIM:616171
Contractural Arachnodactyly, Congenital
Distal arthrogryposis, Hip contracture, Talipes equinovarus, Limited elbow extension, Camptodacty... OMIM:121050
Oculodentodigital Dysplasia, Autosomal Recessive
Persistent pupillary membrane, Short stature, Fifth finger distal phalanx clinodactyly, Abnormal ... OMIM:257850
Focal Dermal Hypoplasia
Abnormal dental enamel morphology, Short ribs, Finger syndactyly, Iris coloboma, Camptodactyly of... ORPHA:2092
Pycnodysostosis
Carious teeth, Prominent nose, Micrognathia, Delayed eruption of permanent teeth, Hypodontia, Sho... OMIM:265800
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Cerebral hemorrhage, Hypertension, Moyamoya phenomenon, Short stature, Az... ORPHA:280679
Non-Distal Trisomy 10Q
Micrognathia, Convex nasal ridge, Depressed nasal bridge, High palate, Short stature, Brachycepha... ORPHA:1695
Marfanoid-Progeroid-Lipodystrophy Syndrome
Keratoconjunctivitis sicca, Hypertension, High, narrow palate, Narrow nose, High palate, Intraute... OMIM:616914
Focal Dermal Hypoplasia
Cleft palate, Hypoplastic nipples, Oligodontia, Short stature, Short metatarsal, Midclavicular hy... OMIM:305600
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Warburg Micro Syndrome 4
Microcornea, Optic atrophy, Developmental cataract, Microphthalmia, Severe postnatal growth retar... OMIM:615663
Meckel Syndrome, Type 8
Anophthalmia, Depressed nasal ridge, Short nose, Microphthalmia OMIM:613885
17Q21.31 Microduplication Syndrome
Toe syndactyly, Micrognathia, High palate, Short philtrum, Short nose, Malar flattening, Sandal g... ORPHA:217340
Pierpont Syndrome
Smooth philtrum, Long upper lip, Short stature, Short nose, Malar flattening, Micropenis, Short t... OMIM:602342
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Acrodysostosis 1 With Or Without Hormone Resistance
Short stature, Epiphyseal stippling, Short metatarsal, Delayed eruption of teeth, Elevated circul... OMIM:101800
Cockayne Syndrome Type 2
Widely spaced primary teeth, Developmental cataract, Hypoplasia of the primary teeth, Intrauterin... ORPHA:90322
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Short stature, Cubitus valgus, Short nose, Camptodactyly of finger, Short toe, Ant... ORPHA:1327
Aarskog-Scott Syndrome
Cleft palate, Short stature, Delayed eruption of teeth, Finger syndactyly, Genu recurvatum, Megal... ORPHA:915
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Ehlers-Danlos Syndrome, Classic Type, 1
Umbilical hernia, Ectopia lentis, Short stature, Hyperextensibility of the knee, Joint dislocatio... OMIM:130000
Short Syndrome
Microdontia, Posterior embryotoxon, Hypoplasia of the iris, Malar flattening, Abnormal dental ena... ORPHA:3163
Dextrocardia With Unusual Facies And Microphthalmia
Prominent nose, Micrognathia, Cleft palate, Microphthalmia, Vertebral fusion, Anophthalmia, Super... OMIM:221950
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hallux valgus, Cleft palate, Talipes equinovarus, Long upper lip, Epiphyseal dysplasia, Malar fla... OMIM:271640
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Blue irides, Congenital hypothyroidism, Cone-shaped epiphysis, Depressed nasal bridg... OMIM:614613
Acrodysostosis
Abnormality of the ulna, Short stature, Epiphyseal stippling, Short metatarsal, Short nose, Hypop... ORPHA:950
Microphthalmia With Brain And Digit Anomalies
Microcornea, High palate, Chorioretinal coloboma, Microphthalmia, Sclerocornea, Retinal dystrophy... ORPHA:139471
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Lymphadenopathy, Alopecia, Malabsorption, Splen... ORPHA:100025
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Micrognathia, Microphthalmia, Intrauterine growth retardation, Short stature, Hypogonadotropic hy... ORPHA:48431
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Short stature, Ectopia lentis, Microspherophakia, Pulmonic stenosis, Jo... OMIM:614819
Temtamy Syndrome
Thick lower lip vermilion, Abnormal palate morphology, Micrognathia, Genu varum, Convex nasal rid... ORPHA:1777
Distal Trisomy 18Q
Carious teeth, Micrognathia, High palate, Large hands, Short nose, Choanal atresia, Arachnodactyl... ORPHA:1716
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Smooth philtrum, Talipes equinovarus, Short metatarsal, S... OMIM:251450
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Short... ORPHA:2788
Robinow Syndrome, Autosomal Dominant 2
Short stature, Short nose, Micropenis, Thin upper lip vermilion, Anteverted nares, Triangular mou... OMIM:616331
Cerebrooculofacioskeletal Syndrome 1
Micrognathia, Microphthalmia, Rocker bottom foot, Second metatarsal posteriorly placed, Long phil... OMIM:214150
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Cleft palate, Microphthalmia, Intrauterine growth retardation, Rocker bottom foot, ... OMIM:616570
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Short stature, Short nose, Thin vermilion border, Abnormality of... ORPHA:2370
Stickler Syndrome
Cleft palate, Short stature, Short nose, Malar flattening, Abnormal dental enamel morphology, Red... ORPHA:828
Oliver-Mcfarlane Syndrome
Retinal degeneration, Hypogonadotropic hypogonadism, Severe short stature, Central heterochromia,... OMIM:275400
Ritscher-Schinzel Syndrome 3
Poorly ossified vertebrae, Micrognathia, Chorioretinal coloboma, Microphthalmia, Epiphyseal stipp... OMIM:619135
Zika Virus Disease
Wrist swelling, Macular atrophy, Intrauterine growth retardation, Ankle swelling, Lens subluxatio... ORPHA:448237
Martsolf Syndrome 1
Slender ulna, Talipes equinovarus, Short stature, Micropenis, Short toe, Hypoplasia of the maxill... OMIM:212720
Pierpont Syndrome
Microcornea, Widely spaced teeth, Smooth philtrum, Microphthalmia, Long upper lip, Short finger, ... ORPHA:487825
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Femoral bowing, Tibial bowing, High palate, Short stature, Ectopia lentis, Deep philtrum, Pursed ... OMIM:245160
Ohdo Syndrome
Widely spaced teeth, Micrognathia, Smooth philtrum, Depressed nasal bridge, Short stature, Long p... OMIM:249620
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Short stature, Bone spicule pigmentation of the retina, ... OMIM:618889
Proteus-Like Syndrome
Limbal dermoid, Communicating hydrocephalus, Thymus hyperplasia, Open bite, Mandibular prognathia... ORPHA:2969
Carpenter Syndrome 1
Genu varum, Midface retrusion, Short stature, Malar flattening, Joint contracture of the hand, De... OMIM:201000
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Short nose, Malar flattening, Micropenis, Turricephaly, Hydrocephalus, Anteverted na... ORPHA:171839
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Frontonasal Dysplasia 1
Broad nasal tip, Coloboma, Microphthalmia, Hypoplastic frontal sinuses, Short columella, Bifid na... OMIM:136760
Pde4D Haploinsufficiency Syndrome
Hypospadias, Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Short nose... ORPHA:439822
Short Stature-Wormian Bones-Dextrocardia Syndrome
Micrognathia, High palate, Short stature, Abnormality of the philtrum, Midshaft hypospadias, Worm... ORPHA:2863
2Q24 Microdeletion Syndrome
Toe syndactyly, Cleft palate, Microphthalmia, Short philtrum, Growth delay, Abnormality iris morp... ORPHA:1617
Weill-Marchesani Syndrome
Mitral regurgitation, Ectopia lentis, Short stature, Pulmonic stenosis, Short thumb, Cataract, Li... ORPHA:3449
Pseudopseudohypoparathyroidism
Depressed nasal bridge, Short stature, Short metatarsal, Osteoporosis, Delayed eruption of teeth,... OMIM:612463
Sponastrime Dysplasia
Hypospadias, Congenital aphakia, Metaphyseal irregularity, Short nose, Obtuse angle of mandible, ... ORPHA:93357
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Microphthalmia, Microdontia, Oligodontia, Malar flattening, Wide nasal bridge, Ect... OMIM:618727
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Cleft palate, Short philtrum, Lens subluxation, Mandibular prognathia, Thick upper lip vermilion,... OMIM:226440
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, Abnormality of the optic nerve, High, narrow palate, Talipes equinovarus, Mitral r... ORPHA:1101
Alagille Syndrome
Hypertension, Micrognathia, Intrauterine growth retardation, Short philtrum, Long nose, Brachycep... ORPHA:52
Walker-Warburg Syndrome
Microcornea, Abnormality of the optic nerve, Optic atrophy, Cleft palate, Microphthalmia, Retinal... ORPHA:899
Edinburgh Malformation Syndrome
Micrognathia, Ulnar deviation of finger, Long fingers, Short nose, Brushfield spots, Thin vermili... ORPHA:1895
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Marfan Syndrome
Cleft palate, Lens subluxation, Protrusio acetabuli, Limited elbow movement, Meningocele, Arthral... ORPHA:558
Lowry-Maclean Syndrome
Small anterior fontanelle, Hypospadias, Cleft palate, Short nose, Hydrocephalus, Megalocornea, Hy... ORPHA:2409
Hallermann-Streiff Syndrome
Malar flattening, Iris coloboma, Underdeveloped nasal alae, Micrognathia, Narrow nose, Microphtha... OMIM:234100
Pyle Disease
Carious teeth, Metaphyseal dysplasia, Thickened calvaria, Hypoplastic frontal sinuses, Metaphysea... OMIM:265900
Neonatal Marfan Syndrome
High, narrow palate, Micrognathia, Abnormal echocardiogram, Adducted thumb, Mitral regurgitation,... ORPHA:284979
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Ectopia lentis, Mandibular prognathia, Abnormal dental enamel morphology, Delayed... ORPHA:2325
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Microphthalmia, Wide mouth, Long philtrum, Trigonocephaly, Cleft upper li... OMIM:243310
Isolated Ectopia Lentis
Hypertension, Ectopia lentis, Mandibular prognathia, Malar flattening, Cataract, Joint stiffness,... ORPHA:1885
Microphthalmia With Limb Anomalies
Arrhinencephaly, Cleft palate, Talipes equinovarus, Short stature, Finger syndactyly, Synostosis ... ORPHA:1106
Autosomal Recessive Omodysplasia
Micrognathia, Abnormality of femur morphology, Depressed nasal bridge, Short stature, Long philtr... ORPHA:93329
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Micrognathia, Midface retrusion, Brachycephaly, Long philtrum, Short nose, Wide na... OMIM:618577
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Prominent nose, Large beaked nose, Convex nasal ridge, Microphthalmia, Ectopia lentis, Wide nose,... OMIM:601552
Weill-Marchesani Syndrome 4
Short stature, Ectopia lentis, Iridodonesis, Phakodonesis, Brachydactyly OMIM:613195
Gapo Syndrome
Oligospermia, Short stature, Delayed eruption of teeth, Abnormal cerebral vascular morphology, An... ORPHA:2067
Nanophthalmos 4
Microphthalmia OMIM:615972
Skin Creases, Congenital Symmetric Circumferential, 2
Carious teeth, Hypospadias, Micrognathia, Microcornea, Depressed nasal bridge, Microphthalmia, Cl... OMIM:616734
Otodental Syndrome
Carious teeth, Retinal coloboma, Abnormal dental enamel morphology, Delayed eruption of teeth, Ir... ORPHA:2791
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Short stature, Short ribs, Rod-cone dystrophy,... ORPHA:168549
Hydrolethalus
Micrognathia, Arrhinencephaly, Microphthalmia, Anencephaly, Cleft palate, Anophthalmia, Gingival ... ORPHA:2189
Marfanoid Hypermobility Syndrome
High, narrow palate, High palate, Mitral regurgitation, Ectopia lentis, Aortic regurgitation, Ara... OMIM:154750
Mmep Syndrome
Microphthalmia, Triphalangeal thumb, Mandibular prognathia, Oral cleft, Cryptorchidism, Median cl... ORPHA:3434
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Thickened calvaria, Depressed nasal bridge, Short... OMIM:103580
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
High palate, Lens subluxation, Ectopia lentis, Osteoporosis, Arachnodactyly, Myocardial infarctio... OMIM:236200
Bardet-Biedl Syndrome 4
Retinal degeneration, Polydactyly, External genital hypoplasia, Rod-cone dystrophy, Hypogonadism,... OMIM:615982
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Convex nasal ridge, Cleft palate, Intrauterine growth retardation, Short stature, B... ORPHA:2145
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Jaundice OMIM:312500
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Osteopathia Striata-Cranial Sclerosis Syndrome
Cleft palate, Delayed eruption of teeth, Increased bone mineral density, Delayed cranial suture c... ORPHA:2780
Classic Homocystinuria
Optic atrophy, Abnormality of retinal pigmentation, Hypertension, Intracranial hemorrhage, High p... ORPHA:394
Microphthalmia, Syndromic 2
Hypospadias, 2-3 toe syndactyly, Adrenal insufficiency, Talipes equinovarus, Oligodontia, Short s... OMIM:300166
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short stature, Short nose, Syndactyly, Bulbous nose, Camptodactyly, Umbilical hernia, Arthrogrypo... ORPHA:369891
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Optic atrophy, Hypertension, Hypoplasia of the pri... ORPHA:90321
Holoprosencephaly
Iris coloboma, Aplasia/Hypoplasia involving the nose, Brachydactyly, Hydrocephalus, Diabetes mell... ORPHA:2162
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose OMIM:218010
Solitary Median Maxillary Central Incisor
Microphthalmia, Midnasal stenosis, Holoprosencephaly, Anophthalmia, Pyriform aperture stenosis, A... OMIM:147250
Anophthalmia Plus Syndrome
Anophthalmia, Choanal atresia, Spina bifida, Abnormal nasal morphology ORPHA:1104
Fgfr2-Related Bent Bone Dysplasia
Decreased calvarial ossification, Steep acetabular roof, Short clavicles, Micrognathia, Congenita... ORPHA:313855
Stickler Syndrome Type 1
Cleft palate, Long philtrum, Abnormality of epiphysis morphology, Short nose, Joint hyperflexibil... ORPHA:90653
Microphthalmia, Syndromic 5
Microcornea, Cleft palate, Microphthalmia, Short stature, Anophthalmia, Retinal dystrophy, Optic ... OMIM:610125
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Multicentric Osteolysis, Nodulosis, And Arthropathy
C1-C2 subluxation, Hip contracture, Short stature, Delayed eruption of teeth, Bulbous nose, Protr... OMIM:259600
Scheie Syndrome
Depressed nasal bridge, Retinal degeneration, Mandibular prognathia, Wide nose, Aortic regurgitat... OMIM:607016
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Craniometadiaphyseal Dysplasia
Carious teeth, Genu varum, Short stature, Cubitus valgus, Malar flattening, Abnormally large glob... OMIM:269300
Hao-Fountain Syndrome
Hallux valgus, Large fontanelles, Trigonocephaly, Premature adrenarche, Micropenis, Cryptorchidis... OMIM:616863
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Depressed nasal bridge, Myelomeningocele, Intrauterine growth retardation, Epiphys... ORPHA:1914
Cleidocranial Dysplasia
Sinusitis, Carious teeth, Cleft palate, Short stature, Abnormal dental enamel morphology, Delayed... ORPHA:1452
Vacterl With Hydrocephalus
Microcornea, Abnormality of the optic nerve, Micrognathia, Arrhinencephaly, Microphthalmia, Intra... ORPHA:3412
Gombo Syndrome
Microphthalmia OMIM:233270
Osteogenesis Imperfecta, Type Xii
Brachyturricephaly, Micrognathia, High palate, Depressed nasal bridge, Short stature, Osteoporosi... OMIM:613849
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Retinal degeneration, Short stature, Mandibular p... OMIM:252600
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short stature, Joint contracture of the hand, Delayed eruption of teeth, Moderately short stature... OMIM:612350
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
High palate, Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea OMIM:251750
Meckel Syndrome
Cleft palate, Aplasia/Hypoplasia of the tongue, Hydrocephalus, Abnormal chorioretinal morphology,... ORPHA:564
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Short middle phalanx of finger, Hip osteoarthritis, Short stature, Abnormality of epi... ORPHA:63442
Cousin Syndrome
2-3 toe syndactyly, Cleft palate, Talipes equinovarus, Prominent protruding coccyx, Microglossia,... OMIM:260660
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Depressed nasal bridge, Short stature, Short meta... OMIM:612462
3M Syndrome
Hypospadias, Short stature, Abnormal dental enamel morphology, Delayed eruption of teeth, Bulbous... ORPHA:2616
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short stature, Epiphyseal stippling, Short nose, Hypogonadism, Short dist... OMIM:302950
Microphthalmia, Syndromic 8
Microcornea, Cleft palate, Microphthalmia, Mandibular prognathia, Cleft upper lip, Widely-spaced ... OMIM:601349
Trisomy 1Q
Toe syndactyly, Cleft palate, Depressed nasal bridge, Anophthalmia, Small scrotum, Wide nose, Ara... ORPHA:261344
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Broad nasal tip, Short stature, External genital hypoplasia, Short toe, Bulbous nose, Postnatal g... OMIM:612947
Micro Syndrome
Hypoplastic labia minora, Optic atrophy, Micrognathia, Abnormality of retinal pigmentation, Micro... ORPHA:2510
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Tetraamelia-Multiple Malformations Syndrome
Microcornea, Optic atrophy, Micrognathia, Microphthalmia, Septo-optic dysplasia, Missing ribs, Ir... ORPHA:3301
Craniosynostosis And Dental Anomalies
Hallux valgus, 2-3 toe syndactyly, Brachycephaly, Trigonocephaly, Craniosynostosis, Supernumerary... OMIM:614188
Spondylometaphyseal Dysplasia, Axial
Proximal femoral metaphyseal irregularity, Optic atrophy, Anterior rib cupping, Retinal degenerat... OMIM:602271
Trisomy 18
Cleft palate, Abnormal morphology of female internal genitalia, Short stature, Short nose, Iris c... ORPHA:3380
Nance-Horan Syndrome
Prominent nose, Microphthalmia, Mandibular prognathia, Supernumerary tooth, Prominent nasal bridg... ORPHA:627
Short Syndrome
Enlarged epiphyses, Micrognathia, Underdeveloped nasal alae, Hypodontia, Intrauterine growth reta... OMIM:269880
Rhiny
Anteverted nares, Short nose OMIM:180360
Warburg Micro Syndrome 2
Microcornea, Hypoplastic labia majora, Optic atrophy, Developmental cataract, Microphthalmia, Bra... OMIM:614225
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Broad hallux phalanx, Joint contracture of the hand, Hydrocephalus, Broad hallux, De... OMIM:175700
Pelvis-Shoulder Dysplasia
Cleft palate, Talipes equinovarus, Retinal coloboma, Prominent protruding coccyx, Short stature, ... ORPHA:2839
Cohen Syndrome
Short stature, Cubitus valgus, Aplasia/Hypoplasia of the tongue, Finger syndactyly, Iris coloboma... ORPHA:193
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Cholestasis, Elevated hepatic transaminase, Biliary tract abnormality, ... ORPHA:79168
Short Stature, Dauber-Argente Type
Short stature, Decreased fibular diameter, Long fingers, Arachnodactyly, Delayed eruption of teet... OMIM:619489
48,Xxyy Syndrome
Carious teeth, Cleft palate, Abnormal dental enamel morphology, Broad jaw, Delayed eruption of te... ORPHA:10
Osteoglophonic Dysplasia
Hypospadias, Pseudoarthrosis, Cloverleaf skull, Short metatarsal, Short nose, Malar flattening, A... OMIM:166250
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Short stature, Thickened cortex of long bones, Short nose,... OMIM:601559
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Micrognathia, Underdeveloped nasal alae, Retinal degeneration, Intrauterine growth... ORPHA:166035
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Arachnodactyly, Retinal detac... ORPHA:171844
Catifa Syndrome
Developmental cataract, Cleft palate, Long philtrum, Tooth malposition, Delayed eruption of teeth... OMIM:618761
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Carious teeth, Retinal calcification, Congenital hypo... ORPHA:93325
Marfan Syndrome
Malar flattening, Genu recurvatum, Limited elbow extension, Protrusio acetabuli, Camptodactyly, P... OMIM:154700
Menkes Disease
Intracranial hemorrhage, Intrauterine growth retardation, Short stature, Brachycephaly, Metaphyse... OMIM:309400
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cleft palate, Microphthalmia, Failure of eruption of permanent teeth, Anophthalmia, Submucous cle... ORPHA:2250
Moebius Syndrome
Talipes equinovarus, Lower limb undergrowth, Micropenis, Syndactyly, Camptodactyly, Abnormality o... OMIM:157900
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Cleft palate, Short stature, Short nose, Wide nasal bridge, Genu valgum, Short foot... OMIM:614078
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Delayed eruption of permanent teeth,... OMIM:113000
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Prominent occiput, Abnormality of retinal pigmentation, Ectopia lentis ORPHA:1259
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Cleft palate, Abnormality of the knee, Talipes equinovarus, Pierre-Robin sequence, Short nose, Pr... ORPHA:251028
Otopalatodigital Syndrome Type 2
Hypospadias, Cleft palate, Pierre-Robin sequence, Oligodontia, Short nose, Malar flattening, Hydr... ORPHA:90652
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal palate morphology, Micrognathia, Depressed nasal bridg... ORPHA:2097
Marfanoid Habitus With Situs Inversus
Lens subluxation, Mandibular prognathia, Aortic regurgitation, Arachnodactyly, Genu recurvatum, P... OMIM:609008
Oculocerebrocutaneous Syndrome
Cleft palate, Microphthalmia, Anophthalmia, Cleft ala nasi, Congenital hip dislocation, Cryptorch... OMIM:164180
Developmental And Epileptic Encephalopathy 73
Short nose, Hip dysplasia, Narrow nasal bridge, Cataract, Flexion contracture, Midface retrusion OMIM:618379
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Microphthalmia, Hydrocephalus, Hypogonadism ORPHA:141333
Duane Retraction Syndrome
Cleft palate, Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Hypoplas... ORPHA:233
Craniolenticulosutural Dysplasia
Carious teeth, Cleft palate, Smooth philtrum, Short stature, Malar flattening, Delayed eruption o... OMIM:607812
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Ectopia lentis OMIM:272300
Chung-Jansen Syndrome
Micrognathia, High palate, Short philtrum, Tapered finger, Long philtrum, Short nose, Thin vermil... OMIM:617991
Cerebrooculonasal Syndrome
Cleft palate, High palate, U-Shaped upper lip vermilion, Brachycephaly, Anophthalmia, Solitary me... OMIM:605627
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Bifid scrotum, Talipes equinovarus, Short stature, Delayed eruption of teeth, Low ha... OMIM:619148
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Laron Syndrome
Depressed nasal ridge, Micrognathia, Hypoplasia of penis, Abnormality of the elbow, Microdontia, ... ORPHA:633
Autosomal Dominant Omodysplasia
Micrognathia, Bifid scrotum, Depressed nasal bridge, Long philtrum, Rhizomelia, Short nose, Malar... ORPHA:93328
Microphthalmia, Lenz Type
Hypospadias, Microcornea, Chorioretinal coloboma, Microphthalmia, Short stature, Delayed eruption... ORPHA:568
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Micrognathia, Intrauterine growth retardation, Large fontanelles, Median c... ORPHA:1832
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Depressed nasal ridge, Microphthalmia, Thin ribs, Intrauterine growth retardation, Hypoplastic il... OMIM:300863
49,Xxxxy Syndrome
Carious teeth, Arrhinencephaly, Cleft palate, Talipes equinovarus, Short stature, Abnormal dental... ORPHA:96264
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Micrognathia, Microphthalmia, Abnormality of the calcaneus, Thin ribs, Hyp... ORPHA:163966
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Flat occiput, Optic atrophy, Thick lower lip vermilion, Broad nasal tip, Depressed nasal bridge, ... OMIM:152950
Charge Syndrome
Cleft palate, Bifid scrotum, Abnormal morphology of female internal genitalia, Short stature, Abn... ORPHA:138
Ramon Syndrome
Abnormality of retinal pigmentation, Abnormal dental enamel morphology, Telangiectasia of the ski... ORPHA:3019
Codas Syndrome
Depressed nasal bridge, Short stature, Abnormality of epiphysis morphology, Short nose, Abnormal ... ORPHA:1458
Chromosome 3Pter-P25 Deletion Syndrome
Short stature, Low hanging columella, Macular hypoplasia, Postnatal growth retardation, Anteverte... OMIM:613792
Roberts Syndrome
Cleft palate, Phocomelia, Aplasia/Hypoplasia of the thumb, Malar flattening, Proximal placement o... ORPHA:3103
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Hypertrophic cardiomyopathy, Abnormal palate morphology, Thick lower lip vermilion... ORPHA:2701
Papillorenal Syndrome
Microphthalmia, Morning glory anomaly, Retinal coloboma, Macular hyperpigmentation, Optic disc co... OMIM:120330
Femoral-Facial Syndrome
Cleft palate, Talipes equinovarus, Short stature, Short nose, Thin upper lip vermilion, Abnormali... ORPHA:1988
Odontochondrodysplasia
Depressed nasal bridge, Cone-shaped epiphysis, Short stature, Bowing of the long bones, Short nos... ORPHA:166272
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Rothmund-Thomson Syndrome, Type 2
Talipes equinovarus, Short stature, Short nose, Delayed eruption of teeth, Agenesis of permanent ... OMIM:268400
Hallermann-Streiff Syndrome
Malar flattening, Short ribs, Reduced bone mineral density, Uveitis, Choanal atresia, Underdevelo... ORPHA:2108
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Broad metatarsal, Micrognathia, Brachycephaly, Trigonocephaly, Broad phalanx, Bifid nose, Bulbous... OMIM:275595
Wildervanck Syndrome
Meningocele, Pseudopapilledema, Lens subluxation, Fused cervical vertebrae ORPHA:3456
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Optic atrophy, Micrognathia, Mandibular prognathia, Optic nerve hypo... ORPHA:496790
Faciothoracogenital Syndrome
Micrognathia, Smooth philtrum, Microphthalmia, Long philtrum, Prominent scrotal raphe, Thin upper... OMIM:227320
Microphthalmia With Linear Skin Defects Syndrome
Hypospadias, Dilated cardiomyopathy, Retinal dysplasia, Abnormal dental enamel morphology, Hydroc... ORPHA:2556
Robinow Syndrome, Autosomal Recessive 1
Short stature, Duplication of the distal phalanx of hand, Broad toe, Malar flattening, Short nose... OMIM:268310
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Odontogenic neoplasm, Buphthalmos, Short stature, Abnormal dental enamel morpholog... ORPHA:534
Microspherophakia With Hernia
Retinal detachment, Microspherophakia, Superior lens subluxation OMIM:157150
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Hypospadias, Cleft palate, Short stature, Short metatarsal, Malar f... OMIM:304120
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Intrauterine growth retardation, Severe postnatal growth ... ORPHA:73272
Microphthalmia, Syndromic 3
Hypospadias, Microphthalmia, Vertebral fusion, Short stature, Anophthalmia, Hypogonadotropic hypo... OMIM:206900
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate, Abnormality of the fontanelles or cranial sutures, Abnormali... ORPHA:2432
Trisomy 9P
Dental crowding, Brachycephaly, Abnormal pupil morphology, Bilateral single transverse palmar cre... ORPHA:236
Chromosome 19Q13.11 Deletion Syndrome, Distal
Carious teeth, Cutaneous finger syndactyly, Hypospadias, Bifid scrotum, Short stature, Short nose... OMIM:613026
Fibrochondrogenesis 1
Broad ischia, Cleft palate, Short nose, Malar flattening, Joint contracture of the hand, Short ri... OMIM:228520
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Microphthalmia, Growth delay, Sclerocornea, Anophthalmia, Holoprosencephaly, Iris co... ORPHA:77298
Jacobsen Syndrome
Hypospadias, Short nose, Iris coloboma, Macular hypoplasia, Hydrocephalus, Anteverted nares, Micr... OMIM:147791
Kapur-Toriello Syndrome
Hypoplastic labia majora, Cleft palate, Microphthalmia, Intrauterine growth retardation, Retinal ... OMIM:244300
Chromosome 16Q22 Deletion Syndrome
Hypospadias, Micrognathia, High palate, Depressed nasal bridge, Growth delay, Wormian bones, Wide... OMIM:614541
3C Syndrome
Hypospadias, Cleft palate, Short stature, Short nose, Finger syndactyly, Iris coloboma, Adrenal h... ORPHA:7
Sandestig-Stefanova Syndrome
Developmental cataract, Convex nasal ridge, Microphthalmia, High palate, Rocker bottom foot, Intr... OMIM:618804
Osteoglosphonic Dysplasia
Micrognathia, Rhizomelia, Craniosynostosis, Multiple unerupted teeth, Severe short stature, Antev... ORPHA:2645
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Optic atrophy, Micrognathia, Chorioretinal coloboma, Microphthalmia, Intrauterine gr... ORPHA:494344
Dysosteosclerosis
Oligodontia, Short ribs, Delayed eruption of teeth, Absent frontal sinuses, Progressive bowing of... OMIM:224300
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Otopalatodigital Syndrome, Type I
Cleft palate, Short 5th metacarpal, Capitate-hamate fusion, Short stature, Lateral femoral bowing... OMIM:311300
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Iris hypopigmentation, Camptodactyly of finger, Abnormality of the sense of sm... ORPHA:284160
Premature Aging Syndrome, Penttinen Type
Micrognathia, Narrow nose, Midface retrusion, Thin vermilion border, Wormian bones, Delayed erupt... OMIM:601812
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Cleft palate, Short nose, Multiple prenatal fractures, Short ribs, Micropenis, Antev... OMIM:616897
Cornelia De Lange Syndrome 5
Cleft palate, Short stature, Proximal placement of thumb, Micropenis, Postnatal growth retardatio... OMIM:300882
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Enlargement of the wrists, Metaphyseal irregularity, Delayed eruption of teeth, Femoral ... OMIM:264700
Pycnodysostosis
Carious teeth, Midface retrusion, Decreased serum insulin-like growth factor 1, Obtuse angle of m... ORPHA:763
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Megaepiphyseal Dwarfism
Inferior lens subluxation, Cleft palate, Short stature, Severe short stature OMIM:249230
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Genu recurvatum, Hip dislocation, Cataract, Bilateral microphthalmos, Joint laxity OMIM:608763
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Morm Syndrome
Retinal dystrophy, Micropenis, Cataract, Retinal atrophy ORPHA:75858
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Short nose ORPHA:2015
Coffin-Lowry Syndrome
Short stature, Delayed eruption of teeth, Anteverted nares, Hypoplasia of the maxilla, Thick nasa... ORPHA:192
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Rickets, Enlargement of the wrists, Metaphyseal irregularity, Delayed eruption of ... OMIM:277440
Mental Retardation, X-Linked 91
High palate, Cubitus valgus, Small hand, Short nose, Short 5th finger, Short foot, Clinodactyly, ... OMIM:300577
Microphthalmia, Syndromic 6
Hypospadias, Short middle phalanx of finger, Bifid scrotum, Cleft palate, Microglossia, Malar fla... OMIM:607932
Witteveen-Kolk Syndrome
Hypospadias, Smooth philtrum, Short stature, Short nose, Proximal placement of thumb, Iris colobo... OMIM:613406
Achondrogenesis Type 1B
Disproportionate short stature, Micrognathia, Talipes equinovarus, Long philtrum, Short nose, Sev... ORPHA:93298
2Q31.1 Microdeletion Syndrome
Broad hallux phalanx, Abnormality of the ulna, Cleft palate, Short stature, Abnormality of the hy... ORPHA:251014
Teebi Hypertelorism Syndrome 1
Broad palm, Depressed nasal bridge, Short stature, Long philtrum, Craniosynostosis, Small hand, S... OMIM:145420
Filippi Syndrome
Underdeveloped nasal alae, Optic atrophy, Hypodontia, Intrauterine growth retardation, Microdonti... OMIM:272440
Smith-Magenis Syndrome
Cleft palate, Short stature, Short nose, Hand polydactyly, Anteverted nares, Toe syndactyly, Micr... ORPHA:819
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Microphthalmia, Sclerocornea, Anophthalmia, Rhizomelia, Cataract, Coloboma, Microcor... OMIM:615877
Holoprosencephaly 9
Cleft palate, Short stature, Malar flattening, Hypoplasia of the premaxilla, Micropenis, Anterior... OMIM:610829
Acrocallosal Syndrome
Hypospadias, Cleft palate, Smooth philtrum, Short nose, Finger syndactyly, Micropenis, Postnatal ... OMIM:200990
Distal Monosomy 6P
Smooth philtrum, Talipes equinovarus, Malar flattening, Anteverted nares, Underdeveloped nasal al... ORPHA:96125
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Long philtrum, Thick vermilion border, Ectopia lentis ORPHA:833
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Broad nasal tip, Anophthalmia, Prominent nasal bridge, Bulbous nose, Anteverted nares ORPHA:411986
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Depressed nasal ridge, Short nose ORPHA:1355
Cenani-Lenz Syndrome
Short nose, Malar flattening, Abnormal dental enamel morphology, Hypoplasia of the radius, Finger... ORPHA:3258
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Optic atrophy, Micrognathia, Abnormal palate morphology, Intrauterine growth retardation, Growth ... ORPHA:1495
Bresek Syndrome
Plagiocephaly, Convex nasal ridge, Microphthalmia, Cleft palate, Intrauterine growth retardation,... ORPHA:85284
Achondrogenesis Type 1A
Micrognathia, Long philtrum, Multiple rib fractures, Short nose, Severe short stature, Frontal bo... ORPHA:93299
14Q22Q23 Microdeletion Syndrome
Short 5th metacarpal, Short stature, Malar flattening, Abnormality of the hypothalamus-pituitary ... ORPHA:264200
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Micrognathia, Microphthalmia, Symphalangism affecting the phalanges of the hand, Short nose, Fron... ORPHA:2547
Bardet-Biedl Syndrome 16
Hypogonadism, External genital hypoplasia, Retinal degeneration, Rod-cone dystrophy OMIM:615993
Simpson-Golabi-Behmel Syndrome, Type 2
Cleft palate, Talipes equinovarus, Short nose, Micropenis, Thin upper lip vermilion, Anteverted n... OMIM:300209
4H Leukodystrophy
Optic atrophy, Hypodontia, Short stature, Hypogonadotropic hypogonadism, Abnormality of thyroid p... ORPHA:289494
Eiken Syndrome
Short middle phalanx of finger, Oligodontia, Short stature, Pseudoepiphyses, Long hallux, Type A1... OMIM:600002
Odontochondrodysplasia 1
Genu varum, Short stature, Delayed eruption of teeth, Genu recurvatum, Short phalanx of finger, S... OMIM:184260
Congenital Contractural Arachnodactyly
High palate, Ectopia lentis, Arthrogryposis multiplex congenita, Arachnodactyly, Flexion contract... ORPHA:115
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Abnormality of the dentition, Microphthalmia, Retinal degeneration OMIM:251700
Non-Distal Trisomy 13Q
Micrognathia, High palate, Long philtrum, Trigonocephaly, Short nose, Thin vermilion border, Arac... ORPHA:1702
Momo Syndrome
Thick lower lip vermilion, Femoral bowing, Smooth philtrum, Chorioretinal coloboma, High palate, ... ORPHA:2563
Three M Syndrome 1
Hypospadias, Short stature, Malar flattening, Short ribs, Postnatal growth retardation, Anteverte... OMIM:273750
Bartsocas-Papas Syndrome 2
Bilateral cleft lip and palate, Popliteal pterygium, Micrognathia, Microphthalmia, Accessory oral... OMIM:619339
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Short philtrum, Brachycephaly, Short nose, Wormian bones, Wide nasal b... OMIM:601224
Gorlin Syndrome
Carious teeth, Vertebral fusion, Brachycephaly, Mandibular prognathia, Palmar pits, Hypogonadotro... ORPHA:377
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
2-3 toe syndactyly, Micrognathia, High palate, Hypodontia, Tapered finger, Short nose, Thick verm... OMIM:617061
Spondylodysplastic Ehlers-Danlos Syndrome
Hallux valgus, Metaphyseal dysplasia, Cleft palate, Talipes equinovarus, Long upper lip, Short st... ORPHA:536471
Ruvalcaba Syndrome
Underdeveloped nasal alae, Narrow nose, Dental crowding, Short stature, Short metatarsal, Retinal... OMIM:180870
Bardet-Biedl Syndrome 9
Retinal degeneration, Polydactyly, Postaxial polydactyly, Bone spicule pigmentation of the retina... OMIM:615986
Perlman Syndrome
High, narrow palate, Micrognathia, Smooth philtrum, Short nose, Wide nasal bridge, Anteverted nar... ORPHA:2849
Frank-Ter Haar Syndrome
Premature loss of teeth, Depressed nasal bridge, Wide mouth, Short philtrum, Mandibular prognathi... ORPHA:137834
Apert Syndrome
Brachyturricephaly, Ovarian neoplasm, Cleft palate, Corneal erosion, Cloverleaf skull, Aplasia/Hy... ORPHA:87
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Adrenal hyperplasia, Increased circulating progesterone, Fused labia m... ORPHA:95699
Aarskog-Scott Syndrome
Cleft palate, Elevated circulating follicle stimulating hormone level, Short stature, Short nose,... OMIM:305400
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cleft palate, Microphthalmia, Short stature, Retinal coloboma, Long philtrum, Short nose, Wide na... OMIM:618571
Arthrogryposis, Distal, Type 2A
Hip contracture, Talipes equinovarus, Short nose, Malar flattening, Joint contracture of the hand... OMIM:193700
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypospadias, Absent tibia, Bifid scrotum, Talipes equinovarus, Short metatarsal, Short nose, Prox... OMIM:609945
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Underdeveloped nasal alae, Micrognathia, Diastema, Patchy atrophy of the retinal pigment epitheli... ORPHA:436245
Distal Trisomy 5Q
Carious teeth, Hypospadias, Micrognathia, Chorioretinal coloboma, Short stature, Long philtrum, A... ORPHA:96097
Oculodentodigital Dysplasia
Carious teeth, Cleft palate, Thin anteverted nares, Palmoplantar keratoderma, Abnormal dental ena... ORPHA:2710
Bartsocas-Papas Syndrome
Toe syndactyly, Micrognathia, Popliteal pterygium, Underdeveloped nasal alae, Cleft palate, Short... ORPHA:1234
Lowry-Maclean Syndrome
Cleft palate, Convex nasal ridge, Intrauterine growth retardation, Craniosynostosis, Delayed erup... OMIM:600252
Hurler Syndrome
C1-C2 subluxation, Short stature, Hydrocephalus, Anteverted nares, Calvarial hyperostosis, Opacif... OMIM:607014
Stickler Syndrome, Type Ii
High, narrow palate, Micrognathia, Cleft palate, Depressed nasal bridge, Pierre-Robin sequence, L... OMIM:604841
Cerebrooculonasal Syndrome
Widely spaced teeth, High palate, Microdontia, U-Shaped upper lip vermilion, Brachycephaly, Anoph... ORPHA:66625
Knobloch Syndrome
Depressed nasal bridge, Ectopia lentis, Vitreoretinopathy, Macular degeneration, Joint hyperflexi... ORPHA:1571
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Micrognathia, High palate, Intrauterine growth retardation, Growth delay, Short stature, Short no... OMIM:613604
Mend Syndrome
2-3 toe syndactyly, High palate, Polydactyly, Short stature, Long fingers, Prominent nasal bridge... OMIM:300960
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Microphthalmia, Metopic synostosis, Polydactyly, Palmar pits,... ORPHA:77301
Saul-Wilson Syndrome
Micrognathia, Convex nasal ridge, Intrauterine growth retardation, Talipes equinovarus, Short sta... OMIM:618150
Basal Cell Nevus Syndrome
Cleft palate, Short ribs, Iris coloboma, Hydrocephalus, Short 4th metacarpal, Odontogenic keratoc... OMIM:109400
Trisomy 12P
Micrognathia, Cleft palate, Short stature, Large hands, Short nose, Malar flattening, Wide nasal ... ORPHA:1699
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma, Smooth philtrum, High palate, Short stature, Brachycephaly, ... OMIM:601853
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis OMIM:110150
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Micrognathia, Smooth philtrum, Wide mouth, Brachycephaly, Short nose, Slender nose... OMIM:615419
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... ORPHA:750
Pallister-Hall-Like Syndrome
Micrognathia, Cleft palate, Depressed nasal bridge, Short nose, Microglossia, Short ribs, Hip dis... OMIM:241800
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Microphthalmia, Severe postnatal growth retardation, Wide nose, Clinodact... ORPHA:2399
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Retinal coloboma, Rod-cone dystrophy, Hypogonadism, Hydrocephalus, Cataract, Cryp... OMIM:601794
Yunis-Varon Syndrome
Hypospadias, Arrhinencephaly, Short middle phalanx of finger, Short stature, Short ribs, Micropen... ORPHA:3472
Marden-Walker Syndrome
Hypospadias, High, narrow palate, Micrognathia, Cleft palate, Radioulnar synostosis, Microphthalm... OMIM:248700
Seckel Syndrome 1
Small anterior fontanelle, Hypospadias, Cleft palate, Abnormally large globe, 11 pairs of ribs, P... OMIM:210600
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Short stature, Ectopia lentis ORPHA:2084
Burn-Mckeown Syndrome
Prominent nasal bridge, Bilateral choanal atresia, Short nose, Wide nasal bridge ORPHA:1200
Oculocerebral Hypopigmentation Syndrome, Cross Type
Abnormal palate morphology, Depressed nasal bridge, Microdontia, Ocular albinism, Choroideremia, ... ORPHA:2719
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature, Peters anomaly, Iris coloboma, Brachydactyly, Syndactyly, Coloboma... OMIM:610023
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Micrognathia, High palate, Depressed nasal bridge, Long philtrum, Short nose, Dee... ORPHA:261120
Dwarfism With Stiff Joints And Ocular Abnormalities
Short lower limbs, Lower limb undergrowth, Disproportionate short-limb short stature, Severe shor... OMIM:127200
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Flat occiput, Cone-shaped epiphysis, Large fontanelles, Brachycephaly, Mandibular prognathia, Mal... ORPHA:2511
Robinow Syndrome, Autosomal Recessive 2
Micrognathia, Broad nasal tip, Midface retrusion, Short stature, Long philtrum, Short nose, Absen... OMIM:618529
Bardet-Biedl Syndrome 1
Rod-cone dystrophy, Foot polydactyly, Micropenis, Syndactyly, Nephrogenic diabetes insipidus, Dia... OMIM:209900
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Decreased response to growth hormone stimulation test, Craniosynostosis, Retinal degeneration, Se... OMIM:225755
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... ORPHA:79302
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Syncope, Cleft palate, Oligodontia, Short metatarsal, Malar flattening, Clinoda... OMIM:170390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus OMIM:614830
Maxillonasal Dysplasia
Depressed nasal ridge, Cleft palate, Depressed nasal bridge, Midface retrusion, Microdontia, Open... ORPHA:1248
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Large fontanelles, Short stature, Delayed eruption... ORPHA:181393
Trichothiodystrophy
Carious teeth, Increased bone mineral density, Umbilical hernia, Conjunctivitis, Intrauterine gro... ORPHA:33364
Mosaic Trisomy 9
Cleft palate, Talipes equinovarus, Bulbous nose, Camptodactyly of finger, Finger clinodactyly, Mi... ORPHA:99776
Mosaic Trisomy 1
Small anterior fontanelle, Cleft palate, Deviation of the 5th toe, Broad toe, Complete duplicatio... ORPHA:1692
Acromicric Dysplasia
Thick lower lip vermilion, Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Lo... ORPHA:969
Temple-Baraitser Syndrome
Short stature, Malar flattening, Delayed eruption of teeth, Long hallux, Anteverted nares, Thick ... ORPHA:420561
Dubowitz Syndrome
Hypospadias, Short stature, Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Delaye... ORPHA:235
Silver-Russell Syndrome Due To A Point Mutation
Oligohydramnios, Postnatal growth retardation, Intrauterine growth retardation, Small placenta ORPHA:397590
Osteogenesis Imperfecta
Carious teeth, Short stature, Abnormal dental enamel morphology, Noncommunicating hydrocephalus, ... ORPHA:666
Incontinentia Pigmenti
Short stature, Abnormal dental enamel morphology, Cerebral ischemia, Delayed eruption of teeth, F... ORPHA:464
Sanjad-Sakati Syndrome
Severe intrauterine growth retardation, Micrognathia, Congenital hypoparathyroidism, Hypoparathyr... ORPHA:2323
Norrie Disease
Malar flattening, Diabetes mellitus, Remnants of the hyaloid vascular system, Abnormal chorioreti... ORPHA:649
Cutis Marmorata Telangiectatica Congenita
Short lower limbs, Micrognathia, Toe syndactyly, Intrauterine growth retardation, Abnormality of ... ORPHA:1556
Acrocraniofacial Dysostosis
Cleft palate, Triphalangeal thumb, Short stature, Short 1st metacarpal, Turricephaly, Anteverted ... ORPHA:949
Emanuel Syndrome
Cleft palate, Broad jaw, Delayed eruption of teeth, Low hanging columella, Micropenis, Hydrocepha... ORPHA:96170
C Syndrome
Short stature, Short nose, Fused sternal ossification centers, Accessory oral frenulum, Anteverte... OMIM:211750
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Elevated circulating parathyroid hormone level, Depre... ORPHA:94089
Achondrogenesis
Micrognathia, Long philtrum, Abnormality of bone mineral density, Short nose, Severe short statur... ORPHA:932
Triploidy
Hypospadias, Meningocele, Micrognathia, Cleft palate, Intrauterine growth retardation, Wide mouth... ORPHA:3376
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Anteverted nares, Short nose, Depressed nasal bridge OMIM:614069
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Microphthalm... ORPHA:891
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes, Abnormality ... ORPHA:543
48,Xxxy Syndrome
Carious teeth, Cleft palate, Talipes equinovarus, Abnormal dental enamel morphology, Delayed erup... ORPHA:96263
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Short stature, Rickets, Enlargement of the wrists, Delayed eruption of teeth, Postnat... ORPHA:289157
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Phakodonesis, Iris hypoperfusion, Retinal v... OMIM:177650
Proboscis Lateralis
Proboscis, Iris coloboma, Cyclopia, Choanal atresia, Abnormal paranasal sinus morphology, Abnorma... ORPHA:141099
Chromosome 16P13.3 Duplication Syndrome
Tapered finger, Long fingers, Short nose, Malar flattening, Proximal placement of thumb, Hip disl... OMIM:613458
Subaortic Stenosis--Short Stature Syndrome
Opacification of the corneal stroma, Diastema, Microphthalmia, Midface retrusion, Growth delay, B... OMIM:271960
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Osteoporosis, Wormian bones, Frontal bossing, Joint hyperflexibility, Short distal... ORPHA:2787
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation OMIM:614292
Dentinogenesis Imperfecta
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, A... ORPHA:49042
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Esophagitis, Duodenitis, Gastritis, Pancolitis, Protein-losing ent... OMIM:619079
Alkuraya-Kucinskas Syndrome
Plagiocephaly, High palate, Depressed nasal bridge, Adducted thumb, Talipes equinovarus, Hand cle... OMIM:617822
Codas Syndrome
Metaphyseal dysplasia, Short stature, Proximal placement of thumb, Delayed eruption of teeth, Bro... OMIM:600373
Hutchinson-Gilford Progeria Syndrome
Narrow nasal tip, Mitral stenosis, Delayed eruption of teeth, Reduced bone mineral density, Rayna... ORPHA:740
Hypophosphatasia, Infantile
Decreased calvarial ossification, Short lower limbs, Intracranial hemorrhage, Bowing of the legs,... OMIM:241500
Bare Lymphocyte Syndrome, Type I
Chronic sinusitis, Nasal polyposis, Ectopia lentis, Recurrent bronchitis OMIM:604571
Branchiooculofacial Syndrome
Hypospadias, Cleft palate, Retinal coloboma, Malar flattening, Proximal placement of thumb, Iris ... OMIM:113620
Florid Cemento-Osseous Dysplasia
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... ORPHA:83451
Fraser Syndrome 1
Hypospadias, Cutaneous finger syndactyly, Cleft palate, Aplasia/Hypoplasia of the thumb, Midline ... OMIM:219000
Fatty Acyl-Coa Reductase 1 Deficiency
Smooth philtrum, Depressed nasal bridge, Growth delay, Short stature, Long philtrum, Juvenile cat... ORPHA:438178
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Carious teeth, Congenital hypoparathyroidism, Intraut... ORPHA:93324
Chromosome 3Q29 Duplication Syndrome
Abnormally large globe, Short nose, Bulbous nose, Wide nasal bridge OMIM:611936
Rothmund-Thomson Syndrome Type 2
Carious teeth, Genu varum, Cleft palate, Short stature, Abnormal dental enamel morphology, Delaye... ORPHA:221016
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Microphthalmia, Retinal dystrophy, Iris coloboma, Retina... OMIM:212550
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Van Maldergem Syndrome 2
Hypospadias, Cutaneous finger syndactyly, Bifid scrotum, Talipes equinovarus, Malar flattening, M... OMIM:615546
Donnai-Barrow Syndrome
Broad nasal tip, Depressed nasal bridge, Hypoplasia of the iris, Retinal dystrophy, Short nose, M... OMIM:222448
Microphthalmia, Isolated 5
Foveoschisis, Microphthalmia, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina,... OMIM:611040
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Corneal erosion, Short stature, Abnormal dental enamel morph... ORPHA:816
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Microphthalmia, Intrauterine growth retardation, Short statu... ORPHA:290
Cat-Eye Syndrome
Microphthalmia, Chorioretinal coloboma, Intrauterine growth retardation, Short stature, Iris colo... ORPHA:195
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Microphthalmia, Retinal dysplasia, Hydrocephalus, Coloboma, Ocular anteri... ORPHA:324416
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Cleft palate, Pierre-Robin sequence, Oligodontia, Long upper lip, Short nose, Microglossia, Bulbo... ORPHA:364577
Werner Syndrome
Convex nasal ridge, Retinal degeneration, Short stature, Osteoporosis, Hypogonadism, Diabetes mel... OMIM:277700
Multiple Benign Circumferential Skin Creases On Limbs
Hypospadias, Microcornea, Micrognathia, Cleft palate, Microphthalmia, Short stature, Long philtru... ORPHA:2505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Microphthalmia, Short statu... OMIM:251270
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Lymphangiectasis, Villous atrophy, Hepatic fibrosis, Cirrhosis, Hepatic failure, Pr... OMIM:602579
Acrofacial Dysostosis, Catania Type
Carious teeth, Hypospadias, Abnormal palate morphology, Smooth philtrum, Intrauterine growth reta... ORPHA:1786
Wolf-Hirschhorn Syndrome
Hypospadias, Aplasia of the uterus, Cleft palate, Talipes equinovarus, Short stature, Iris colobo... OMIM:194190
Nablus Mask-Like Facial Syndrome
Smooth philtrum, Hypoplastic nipples, Short nose, Joint contracture of the hand, Micropenis, Thin... OMIM:608156
Smith-Kingsmore Syndrome
Smooth philtrum, Depressed nasal bridge, Wide mouth, Long philtrum, Rhizomelia, Short nose, Front... OMIM:616638
Regional Odontodysplasia
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... ORPHA:83450
Mend Syndrome
2-3 toe syndactyly, Micrognathia, Microphthalmia, Cleft palate, High palate, Short stature, Long ... ORPHA:401973
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Adams-Oliver Syndrome 2
Optic atrophy, Micrognathia, Developmental cataract, Depressed nasal bridge, Microphthalmia, Bulb... OMIM:614219
Cockayne Syndrome B
Carious teeth, Micropenis, Postnatal growth retardation, Opacification of the corneal stroma, Hyp... OMIM:133540
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Short stature, Short metatarsal, Delayed eruption of teeth, Coxa magna, Cone-shape... OMIM:190350
Craniometaphyseal Dysplasia, Autosomal Recessive
Optic atrophy, Club-shaped distal femur, Metaphyseal dysplasia, Delayed eruption of permanent tee... OMIM:218400
Wt Limb-Blood Syndrome
Micrognathia, Ulnar deviation of the 3rd finger, Radioulnar synostosis, Short thumb, Absent thumb... OMIM:194350
Mietens Syndrome
Short nose, Hypoplasia of the radius, Coxa vara, Hip dislocation, Abnormality of fibula morpholog... ORPHA:2557
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Short stature, Abnormal cortical bone morphology, Wormian bones, Patholog... ORPHA:166277
Pfeiffer Syndrome
Brachyturricephaly, High palate, Elbow ankylosis, Depressed nasal bridge, Cloverleaf skull, Choan... OMIM:101600
De Barsy Syndrome
Abnormal fundus fluorescein angiography, Talipes equinovarus, Short stature, Delayed eruption of ... ORPHA:2962
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Bifid scrotum, Hypogonadotropic hypogonadism, Hypoplasia of the zygomatic bone, Short nose, Genu ... ORPHA:1295
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Retinal coloboma, External genital hypoplasia, Rod-cone dystrophy, Hypogonadism, ... ORPHA:363741
Joubert Syndrome 37
High palate, Microphthalmia, Short stature, Postaxial polydactyly, Wide nose, Wide nasal bridge, ... OMIM:619185
Combined Oxidative Phosphorylation Deficiency 25
Anteverted nares, Short nose, Depressed nasal bridge, Wide nasal bridge OMIM:616430
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypospadias, Depressed nasal ridge, Hypodontia, Short stature, Palmoplantar keratoderma, Delayed ... ORPHA:1816
Potocki-Shaffer syndrome
Delayed cranial suture closure, Abnormality of the male genitalia, Parietal foramina DECIPHER:34
Brachytelephalangic Chondrodysplasia Punctata
C1-C2 subluxation, Epiphyseal stippling, Short distal phalanx of toe, Short nose, Postnatal growt... ORPHA:79345
Seckel Syndrome 2
Hypospadias, Prominent nose, Micrognathia, Microphthalmia, Microdontia, Growth delay, Short statu... OMIM:606744
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu varum, Metaphyseal irregularity, Malar flattening, Short nose, Short dental root, Bulbous no... OMIM:271510
Microphthalmia, Isolated 4
Coloboma, Microphthalmia, Absent testis, Postaxial polydactyly OMIM:613094
Endocrine-Cerebroosteodysplasia
Hypospadias, Cleft palate, Malar flattening, Micropenis, Syndactyly, Adrenal hypoplasia, Hydrocep... OMIM:612651
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, External genital hypoplasia, Rod-cone dystrophy OMIM:268010
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Retinal degeneration, External genital hypoplasia, Rod-cone dystrophy, Hy... OMIM:615981
Rothmund-Thomson Syndrome Type 1
Carious teeth, Genu varum, Short stature, Abnormal dental enamel morphology, Delayed eruption of ... ORPHA:221008
Frank-Ter Haar Syndrome
Buphthalmos, Talipes equinovarus, Abnormally large globe, Megalocornea, Thin upper lip vermilion,... OMIM:249420
Maxillonasal Dysplasia, Binder Type
Short columella, Short nose, Depressed nasal bridge OMIM:155050
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Deviation of the 5th toe, Oligodontia, Short nose, Slender finger, Diabetes mellitus, Thin upper ... ORPHA:391408
Cole-Carpenter Syndrome
Communicating hydrocephalus, Micrognathia, Intrauterine growth retardation, Short stature, Bowing... ORPHA:2050
Craniolenticulosutural Dysplasia
Carious teeth, Smooth philtrum, High palate, Microdontia, Large fontanelles, Long philtrum, Wide ... ORPHA:50814
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Cone-shaped epiphysis, Short philtrum, Short stature, Osteoporosis, Prominent nasal bridge, Delay... ORPHA:71267
Hec Syndrome
Communicating hydrocephalus, Developmental cataract, Vaginal hydrocele, Cardiomyopathy, Abnormal ... ORPHA:2119
Uveal Melanoma
Abnormal fundus morphology, Mydriasis, Retinal detachment, Vitreous hemorrhage, Zonular cataract,... ORPHA:39044
Bardet-Biedl Syndrome 17
Macular atrophy, Retinal degeneration, Polydactyly, Bone spicule pigmentation of the retina, Rod-... OMIM:615994
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Cleft palate, Bifid scrotum, Short stature, Short nose, Malar flattening, Micropenis... OMIM:257300
20Q11.2 Microduplication Syndrome
Bifid scrotum, Short nose, Micropenis, Limited elbow extension, Anteverted nares, Severe intraute... ORPHA:363659
Melnick-Needles Syndrome
Micrognathia, Short clavicles, Short stature, Bowing of the long bones, Tooth malposition, Abnorm... ORPHA:2484
Distal Monosomy 10Q
Cleft palate, Smooth philtrum, Short stature, Short metatarsal, Short nose, Postnatal growth reta... ORPHA:96148
Aniridia 1
Hypoplasia of the fovea, Corneal erosion, Ectopia lentis, Anterior subcapsular cataract, Hypoplas... OMIM:106210
Aymé-Gripp Syndrome
Cleft palate, Oligodontia, Short stature, Short nose, Postnatal growth retardation, Hydrocephalus... ORPHA:1272
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Weakness of the intrinsic hand muscles, Flexion contracture OMIM:160565
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Micrognathia, Tibial bowing, Thin ribs, Neonatal short-limb sho... OMIM:259420
Donnai-Barrow Syndrome
Depressed nasal bridge, Retinal dystrophy, Short nose, Iris coloboma, Abnormality of the uterus, ... ORPHA:2143
Dubowitz Syndrome
Carious teeth, Hypospadias, Micrognathia, Broad nasal tip, Microphthalmia, High palate, Hypoplasi... OMIM:223370
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Underdeveloped nasal alae, Smooth phil... OMIM:190351
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Short stature, Retinal thinning, Epiphyseal dysplasia, Genu valgum, Narrow mouth, Cataract, Coxa ... OMIM:132450
Cleidocranial Dysplasia
Cleft palate, Aplastic clavicle, Malar flattening, Absent frontal sinuses, Short ribs, Moderately... OMIM:119600
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Microphthalmia, Shallow anterior chamber, Retinal degeneration, Cystoid macular ... OMIM:267760
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypospadias, Short middle phalanx of finger, Short 1st metacarpal, Postnatal growth retardation, ... OMIM:210720
Trisomy 17P
Cleft palate, Smooth philtrum, Short stature, Malar flattening, Hydrocephalus, Thick nasal alae, ... ORPHA:261290
Treacher-Collins Syndrome
Cleft palate, Abnormality of bone mineral density, Thyroid hypoplasia, Hypoplasia of the thymus, ... ORPHA:861
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Intrauterine growth retardation, Decreased palmar creases, Talipes equinovarus, Long philtrum, Sh... OMIM:612394
Miller-Dieker Lissencephaly Syndrome
Micrognathia, Cleft palate, Intrauterine growth retardation, Polydactyly, Short nose, Thick upper... OMIM:247200
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Delayed eruption of permanent teeth, Microdontia, Short distal phalanx of toe, Shor... OMIM:619356
Craniofacial-Deafness-Hand Syndrome
Depressed nasal ridge, Depressed nasal bridge, Ulnar deviation of finger, Short nose, Abnormality... ORPHA:1529
Nanophthalmos
Microphthalmia ORPHA:35612
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... ORPHA:2972
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176