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Gene: Gusb MGI:95872

Gene Summary

Name:

glucuronidase, beta

Synonyms:

Gus-t, asd, Gur, Gus-s, Gus-r, Gus-u, Gus, g, adipose storage deficiency, Gut

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, incomplete penetrance		Gusb^em1(IMPC)Bay	HOM		Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

VIP of right fundus

15 Images

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Eye Morphology

VIP of right eye

14 Images

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Eye Morphology

VIP of left fundus

15 Images

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Eye Morphology

VIP of left eye

15 Images

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MicroCT E18.5

Embryo reconstruction

3 Images

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Human diseases caused by Gusb mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Gusb (2 diseases)
Human diseases predicted to be associated with Gusb (1153 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Mucopolysaccharidosis, Type Vii		Severe short stature, Short stature, Metatarsus adductus, Postnatal growth retardation, Heparan s...	OMIM:253220
Mucopolysaccharidosis Type 7		Metatarsus adductus, Epiphyseal stippling, Mucopolysacchariduria, Abnormal hip bone morphology, D...	ORPHA:584

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

Disease	Matching phenotypes	Source
Chondrodysplasia Calcificans Metaphysealis	Metaphyseal dysplasia, Mucopolysacchariduria, Metaphyseal chondrodysplasia	OMIM:215050
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Waddling gait, Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patel...	ORPHA:166002
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Adenylosuccinate Lyase Deficiency	Short nose, Flat occiput, Anteverted nares, Brachycephaly	ORPHA:46
Non-Syndromic Bicoronal Craniosynostosis	Brachydactyly, Brachycephaly, Metacarpal synostosis, Midface retrusion, Hearing impairment	ORPHA:35099
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta...	OMIM:250460
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Increased laxity of ankles...	ORPHA:750
Osseous Heteroplasia, Progressive	Limb undergrowth, Ectopic ossification in muscle tissue	OMIM:166350
Multiple Epiphyseal Dysplasia Type 1	Waddling gait, Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital f...	ORPHA:93308
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis, Brachycephaly, Thickened calvaria, Hearing impa...	ORPHA:178377
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Mucopolysaccharidosis, Type Iva	Waddling gait, Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bones,...	OMIM:253000
Mucopolysaccharidosis Type 4	Joint dislocation, Bowing of the long bones, Short stature, Coxa valga, Genu valgum, Mucopolysacc...	ORPHA:582
Mucopolysaccharidosis, Type Ivb	Ulnar deviation of the wrist, Ataxia, Coxa valga, Epiphyseal deformities of tubular bones, Hypopl...	OMIM:253010
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Rhiny	Short nose, Anteverted nares	OMIM:180360
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Waddling gait, Enlarged joints, Short stature, Bowing of the legs, Disproportionate short-limb sh...	ORPHA:156728
Langer Mesomelic Dysplasia	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/...	ORPHA:2632
Potocki-Shaffer Syndrome	Turricephaly, Underdeveloped nasal alae, Parietal foramina, Brachycephaly, Wide nasal bridge, Sho...	OMIM:601224
Oculoskeletodental Syndrome	Renal agenesis, Hypercalcemia, Cryptorchidism, Elbow flexion contracture, Hypercalciuria, Wide na...	OMIM:618440
Spermatogenic Failure 57	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i...	OMIM:619528
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Non-Distal Duplication 10Q	Frontal bossing, Depressed nasal bridge, Brachycephaly, Short nose, Convex nasal ridge	ORPHA:1695
Spermatogenic Failure 73	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619878
Spermatogenic Failure 59	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619645
Spermatogenic Failure 60	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619646
Spermatogenic Failure 74	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619937
Laron Syndrome	Severe short stature, Abnormal joint morphology, Short long bone, Limb undergrowth, Delayed menarche	OMIM:262500
Crouzon Syndrome With Acanthosis Nigricans	Brachycephaly, Choanal atresia, Craniosynostosis, Midface retrusion	OMIM:612247
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Calvarial skull defect, Abno...	ORPHA:1426
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Abnormal metaphysis morphology, Mucopolysacchariduria, Genu valgum	ORPHA:583
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Short stature, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow e...	OMIM:614078
Spermatogenic Failure 32	Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility	OMIM:618115
Spermatogenic Failure 71	Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility	OMIM:619831
Ring Chromosome 8 Syndrome	Frontal bossing, Short nose, Anteverted nares	ORPHA:1450
Muenke Syndrome	Broad hallux, Hearing impairment, Capitate-hamate fusion, Sensorineural hearing impairment, Brach...	OMIM:602849
Cebalid Syndrome	Turricephaly, Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Brachycephaly, Pla...	OMIM:618774
Gómez-López-Hernández Syndrome	Turricephaly, Anteverted nares, Brachycephaly, Midface retrusion	ORPHA:1532
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Plagiocephaly, Flat occiput, Brachycephaly	ORPHA:2898
Intellectual Developmental Disorder, X-Linked 91	Small hand, Short foot, Short 5th finger, Clinodactyly, Short nose	OMIM:300577
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morpholog...	ORPHA:1803
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly, Anteverted nares, Inappropriate laughter	OMIM:618859
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morpholo...	ORPHA:93351
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Midface retrusion, Micromelia, Epiphyseal stippling, Short 3rd metacarpal, Limb undergrowth, Shor...	OMIM:118651
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Bowing of the long bones, Abnormal distal phalanx morphology of finger, Rh...	ORPHA:175
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly	OMIM:611263
Potocki-Shaffer Syndrome	Prominent nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Parietal foramina, Brachyceph...	ORPHA:52022
Mucopolysaccharidosis, Type Vii	Severe short stature, Short stature, Metatarsus adductus, Postnatal growth retardation, Heparan s...	OMIM:253220
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility	OMIM:619672
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Mucolipidosis Ii Alpha/Beta	Micrognathia, Metaphyseal widening, Hypoplasia of the odontoid process, Split hand, Flat acetabul...	OMIM:252500
Multiple Sulfatase Deficiency	Broad hallux, Short stature, Ataxia, Hypoplastic vertebral bodies, Mucopolysacchariduria, Broad t...	OMIM:272200
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Nephrotic syndrome, Mucopolysacchariduria, Proteinuria	OMIM:215250
Hurler Syndrome	Inguinal hernia, Depressed nasal bridge, Anteverted nares, Hypoplasia of the femoral head, Broad ...	OMIM:607014
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Camptodactyly of f...	ORPHA:2633
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Turricephaly, Short stature, Micromelia, Micrognathia, Craniosynostosis, Split...	ORPHA:2145
Hurler-Scheie Syndrome	Short stature, Camptodactyly of finger, Micrognathia, Heparan sulfate excretion in urine, Contrac...	OMIM:607015
Metaphyseal Acroscyphodysplasia	Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Sev...	ORPHA:1240
Mucopolysaccharidosis Type 7	Metatarsus adductus, Epiphyseal stippling, Mucopolysacchariduria, Abnormal hip bone morphology, D...	ORPHA:584
17Q21.31 Microduplication Syndrome	Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Clinodactyly of the 5th finger, Short...	ORPHA:217340
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Unilambdoid synostosis, Brachycephaly, Wide nasal bridge, Plagiocephaly, Short ...	OMIM:618577
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Waddling gait, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphys...	OMIM:608728
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le...	OMIM:249710
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Astley-Kendall Dysplasia	Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia	ORPHA:85175
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Split h...	ORPHA:2019
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Postnatal growth retardation, Brachycephaly	OMIM:309545
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A...	OMIM:301099
Burn-Mckeown Syndrome	Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia	ORPHA:1200
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares	ORPHA:1355
Brachyolmia Type 1, Hobaek Type	Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short iliac bones...	OMIM:271530
Spermatogenic Failure 20	Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility	OMIM:617593
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares, Micrognathia	ORPHA:2015
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Mucopolysaccharidosis, Type X	Disproportionate short-trunk short stature, Nephrolithiasis, Dermatan sulfate excretion in urine,...	OMIM:619698
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormality of th...	ORPHA:429
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal synostosis, Abnormal morp...	ORPHA:2639
Jeune Syndrome	Renal insufficiency, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Posta...	ORPHA:474
Multiple Sulfatase Deficiency	Broad hallux phalanx, Mucopolysacchariduria, Short stature, Broad thumb	ORPHA:585
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Midface...	ORPHA:93258
Mucopolysaccharidosis Type 1	Joint dislocation, Short stature, Split hand, Mucopolysacchariduria, Abnormal epiphysis morpholog...	ORPHA:579
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of...	OMIM:155050
Acrocephalopolydactyly	Genu recurvatum, Abnormal renal morphology, Short long bone, Limb undergrowth, Brachydactyly	ORPHA:221054
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Short nose, Brachycephaly	ORPHA:1514
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Midface retrusion	DECIPHER:52
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Elbow...	ORPHA:85170
Mucopolysaccharidosis, Type Ii	Severe short stature, Short stature, Heparan sulfate excretion in urine, Split hand, Dermatan sul...	OMIM:309900
Peroxisomal Acyl-Coa Oxidase Deficiency	Frontal bossing, Brachycephaly, Depressed nasal bridge, Wide nasal bridge	OMIM:264470
Coxoauricular Syndrome	Short stature, Micromelia, Abnormal femur morphology, Reduced bone mineral density, Microtia, Atr...	ORPHA:1508
Diastrophic Dysplasia	Hip contracture, Costal cartilage calcification, Flattened epiphysis, Genu valgum, Ulnar deviatio...	OMIM:222600
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose	OMIM:125700
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Abnormal epiphys...	ORPHA:2631
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Pseudodiastrophic Dysplasia	Frontal bossing, Severe short stature, Rhizomelia, Phalangeal dislocation, Micrognathia, Hypoplas...	OMIM:264180
Mesomelic Dysplasia, Kantaputra Type	Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal f...	ORPHA:1836
Cornelia De Lange Syndrome 2	Short stature, Proximal placement of thumb, Micrognathia, Postnatal growth retardation, Small han...	OMIM:300590
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic gi...	ORPHA:2928
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Mesomelia, Brachydactyly, Convex nasal ridge, Micrognathia	ORPHA:1277
Atelosteogenesis, Type Ii	Sandal gap, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around chondrocytes, Flat acet...	OMIM:256050
Hurler Syndrome	Short stature, Camptodactyly of finger, Abnormality of the elbow, Growth delay, Narrow pelvis bon...	ORPHA:93473
Micromelic Bone Dysplasia With Cloverleaf Skull	Cloverleaf skull, Micromelia	OMIM:156830
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Short stature, Tarsal syno...	OMIM:112910
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s...	OMIM:301059
Clark-Baraitser Syndrome	Depressed nasal bridge, Anteverted nares, Brachycephaly, Dolichocephaly, Short nose, Low hanging ...	OMIM:617752
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p...	OMIM:200700
Microcephaly-Microcornea Syndrome, Seemanova Type	Growth delay, Short stature, Brachycephaly	ORPHA:2528
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Frontal bossing, Rudimentary postaxial polydactyly of hands, Short stature, Arachnoda...	OMIM:600325
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly, Oligodactyly	OMIM:614416
Fucosidosis	Hypothyroidism, Mucopolysacchariduria, Lipoatrophy, Hyperhidrosis	ORPHA:349
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ...	ORPHA:93296
Pierpont Syndrome	Short stature, Posteriorly rotated ears, Short toe, Brachycephaly, Short foot, Large fleshy ears,...	OMIM:602342
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis, Abnormal epiphysis morphology, Proportionate short stature, Micromelia	ORPHA:93283
Pseudoachondroplasia	Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fragmente...	OMIM:177170
Spermatogenic Failure 17	Male infertility	OMIM:617214
Laurence-Moon Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Short stature, Sensorineural hearing impair...	ORPHA:2377
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Short stature, Genu recurvatum, Micromelia, Metaphyseal widening...	OMIM:184260
Spermatogenic Failure 29	Non-obstructive azoospermia, Male infertility, Immotile sperm	OMIM:618091
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Spermatogenic Failure 25	Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia	OMIM:617960
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ri...	ORPHA:2831
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Tapered finger, Conductive hearing impairment, Sensorineural hearing impairment, Small hand, Brac...	OMIM:618672
Larsen-Like Syndrome	Frontal bossing, Short stature, Conductive hearing impairment, Wide anterior fontanel, Brachyceph...	OMIM:608545
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Short long bone, Flared elbow metaphyses, Limb undergrowth	ORPHA:1423
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short stature, Micromelia, Co...	ORPHA:63446
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Mucopolysaccharidosis, Type Iiia	Heparan sulfate excretion in urine, Umbilical hernia, Inguinal hernia, Recurrent upper respirator...	OMIM:252900
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly, Reduced bone mineral density	OMIM:620200
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Micromelia, Metatarsus adduct...	ORPHA:2249
Feingold Syndrome 2	Short stature, Short middle phalanx of the 2nd finger, Short thumb, Postnatal growth retardation,...	OMIM:614326
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Abnormal social behavior	ORPHA:436151
Spermatogenic Failure 42	Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic...	OMIM:618745
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Microgna...	ORPHA:93329
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short...	ORPHA:968
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Short stature, Abnormal limb bone morphology, Limb undergrowth, A...	ORPHA:2204
Spermatogenic Failure 22	Non-obstructive azoospermia, Male infertility, Cryptozoospermia	OMIM:617706
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Frontal bossing, Arachnodactyly, Short stature, Postaxial polydactyly, Tapered finger, Dolichocep...	OMIM:619721
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose, Midface retrusion	OMIM:618379
Fg Syndrome 5	Trigonocephaly, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:300581
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Short stature, Hypoplasia of the odontoid process, Metaphyseal widening, Sp...	OMIM:253200
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Acromicric Dysplasia	Short metacarpal, Anteverted nares, Bulbous nose, Small hand, Abnormal femur morphology, Short pa...	ORPHA:969
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Short stature, Abnor...	ORPHA:950
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Hip contracture, Toe syndactyly, Hyperechogenic kidneys, 2-3 toe syndactyly, Shortening of all di...	OMIM:616809
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Frontal bossing, Increased bone mineral density, Coxa valga, Micrognathia, Wide anterior fontanel...	ORPHA:163649
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Hypoplasia of penis, Short stature, Micromelia, Postaxial hand polydactyly, Split ...	ORPHA:2491
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Short stature, Heparan sulfate excretion in urine, Elbow flexion contractur...	OMIM:252940
Craniosynostosis 6	Turricephaly, Craniosynostosis, Parietal foramina, Sensorineural hearing impairment, Brachycephal...	OMIM:616602
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Short stature, Camptodactyly of finger, Proxi...	ORPHA:1488
Hypochondroplasia	Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f...	OMIM:146000
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Short palm, Severe short stature, Flat occiput, Abnormal thumb morphology, Hearing abnormality, A...	ORPHA:2511
Chromosome 3Pter-P25 Deletion Syndrome	Flat occiput, Short stature, Overlapping toe, Postaxial polydactyly, Micrognathia, Postnatal grow...	OMIM:613792
Grant Syndrome	Frontal bossing, Bowing of the long bones, Short stature, Micrognathia, Brachycephaly, Decreased ...	ORPHA:2097
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Short columella, Abnormal nostril morphology, Shor...	ORPHA:1248
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly	OMIM:309530
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Frontal bossing, Depressed nasal bridge, Brachycephaly, Craniosynostosis	ORPHA:314575
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Frontal bossing, Sandal gap, Camptodactyly of finger, Cr...	ORPHA:1520
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Short stature, Bowing of the legs, Micrognathia, Osteopo...	OMIM:613849
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Short stature, Brachycephaly	OMIM:300699
Image Syndrome	Metaphyseal dysplasia, Hypospadias, Micromelia, Cryptorchidism, Intrauterine growth retardation, ...	ORPHA:85173
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Micrognathia, Depressed nasal ridge, Mandibular aplasia, Short nose, Retrognathia	ORPHA:1832
Gm1 Gangliosidosis Type 1	Hypoplastic vertebral bodies, Flared iliac wing, Short long bone, Urinary glycosaminoglycan excre...	ORPHA:79255
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Frontal bossing, Rhizomelia, Short stature, Metaphyseal cupping of proximal pha...	OMIM:300863
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa...	ORPHA:2098
Mesomelia-Synostoses Syndrome	Abnormality of the knee, Brachydactyly, Short stature, Micromelia, Micrognathia, Abnormality of t...	ORPHA:2496
Congenital Heart Defects And Ectodermal Dysplasia	Frontal bossing, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Brachycephaly	OMIM:617364
Cornelia De Lange Syndrome 5	Toe syndactyly, Short stature, Proximal placement of thumb, Micrognathia, Postnatal growth retard...	OMIM:300882
Spermatogenic Failure 81	Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R...	OMIM:620277
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Short stature, Growth delay, Epiphyseal stippling, Abnormal epiphysis morphology, Lim...	ORPHA:177
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Short tibia, Ar...	ORPHA:93323
Pierpont Syndrome	Posteriorly rotated ears, Uplifted earlobe, Short toe, Brachycephaly, Short finger, Prominent fin...	ORPHA:487825
Spermatogenic Failure 79	Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:620196
Ruvalcaba Syndrome	Short metacarpal, Short stature, Micromelia, Cryptorchidism, Limited elbow extension, Small hand,...	OMIM:180870
Spermatogenic Failure 11	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Frontal bossing, Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Microg...	ORPHA:440354
Acromicric Dysplasia	Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa...	OMIM:102370
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Short stature, Proteinuria, Micromelia, Ulnar bowing, Nephropathy, Madelung deform...	ORPHA:1765
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Dispro...	OMIM:609616
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Mucopolysaccharidosis Type 3	Ataxia, Avascular necrosis of the capital femoral epiphysis, Heparan sulfate excretion in urine, ...	ORPHA:581
Spermatogenic Failure, X-Linked, 6	Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai...	OMIM:301101
Squalene Synthase Deficiency	Depressed nasal bridge, Hypospadias, Micrognathia, Increased circulating farnesol concentration, ...	OMIM:618156
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Acromesomelic Dysplasia, Maroteaux Type	Frontal bossing, Bowing of the long bones, Dolichocephaly, Disproportionate short stature, Acrome...	ORPHA:40
Mucopolysaccharidosis, Type Iiic	Heparan sulfate excretion in urine, Recurrent upper respiratory tract infections, Hernia	OMIM:252930
Isochromosomy Yp	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98797
Humeroradial Synostosis	Brachycephaly, Wide nasal bridge	OMIM:236400
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Brachycephaly, ...	OMIM:619995
Muenke Syndrome	Tarsal synostosis, Sensorineural hearing impairment, Brachycephaly, Short foot, Plagiocephaly, Sh...	ORPHA:53271
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the...	OMIM:113000
Scheie Syndrome	Mucopolysacchariduria, Rhinitis	ORPHA:93474
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Pde4D Haploinsufficiency Syndrome	Thickened calvaria, Frontal bossing, Short metacarpal, Broad hallux, Posteriorly rotated ears, He...	ORPHA:439822
Recombinant Chromosome 8 Syndrome	Posteriorly rotated ears, Micrognathia, Postnatal growth retardation, Brachycephaly, Growth delay...	OMIM:179613
Nievergelt Syndrome	Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Mesomelic short s...	OMIM:163400
Cataract-Intellectual Disability-Hypogonadism Syndrome	Low-set, posteriorly rotated ears, Abnormal distal phalanx morphology of finger, Short stature, M...	ORPHA:1387
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Recurrent upper respiratory tract infections	OMIM:252920
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Male infertility, Immotile sperm	OMIM:608653
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Congenital Disorder Of Deglycosylation 1	Hyperalaninemia, Anhidrosis, Anteverted nares, Elevated circulating alpha-fetoprotein concentrati...	OMIM:615273
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Micro...	OMIM:151210
Diastrophic Dysplasia	Joint dislocation, Bowing of the long bones, Camptodactyly of finger, Proximal placement of thumb...	ORPHA:628
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Missing ribs, Micrognathia, Disproportionate short stature,...	ORPHA:1801
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Micromelia, Coxa val...	ORPHA:166272
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Turricephaly, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Brachycephaly, Short co...	ORPHA:171839
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Micrognathia, Postnatal growth retardation, Brachycephaly, Low-set ears, Intrauterine growth reta...	OMIM:615419
2Q32Q33 Microdeletion Syndrome	Broad hallux phalanx, Short stature, Arachnodactyly, Micrognathia, Brachycephaly, Growth delay, T...	ORPHA:251019
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Acrofrontofacionasal Dysostosis 2	Syndactyly, Broad hallux, Short stature, Posteriorly rotated ears, Wide anterior fontanel, Brachy...	OMIM:239710
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Flexion contracture, Nephrotic syndrome, Heavy p...	ORPHA:505248
Spondylometaphyseal Dysplasia, A4 Type	Severe short stature, Micromelia, Coxa vara, Short palm	ORPHA:168555
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Short stature, Sandal gap, Postaxial polydactyly, Short metatars...	OMIM:617102
Frontonasal Dysplasia 3	Brachycephaly, Wide nasal bridge, Underdeveloped nasal alae	OMIM:613456
Intellectual Developmental Disorder, Autosomal Dominant 26	Depressed nasal bridge, Anteverted nares, Brachycephaly, Wide nasal bridge, Prominent nasal tip	OMIM:615834
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi...	OMIM:601356
Intellectual Developmental Disorder, Autosomal Dominant 23	Depressed nasal bridge, Anteverted nares, Bulbous nose, Brachycephaly, Wide nasal bridge	OMIM:615761
Even-Plus Syndrome	Bifid nasal tip, Depressed nasal ridge, Brachycephaly, Short nose, Midface retrusion	OMIM:616854
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Erlenmeyer flask deformity of the femurs, Hypocholesterolemia	OMIM:610539
Crouzon Syndrome	Frontal bossing, Turricephaly, Brachycephaly, Multiple suture craniosynostosis, Conductive hearin...	ORPHA:207
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly, Impaired social interactions	OMIM:616083
Thanatophoric Dysplasia, Type Ii	Frontal bossing, Cloverleaf skull, Small abnormally formed scapulae, Micromelia, Flared metaphysi...	OMIM:187601
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose, Midface retrusion	OMIM:618618
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Short nose, Abnormal metaphysis m...	ORPHA:2370
17P13.3 Microduplication Syndrome	Frontal bossing, Wide nose, Short nose	ORPHA:217385
Frontofacionasal Dysplasia	Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Brachycephaly, D...	ORPHA:1791
Achondroplasia	Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Wide a...	ORPHA:15
Fetal Trimethadione Syndrome	Short nose, Depressed nasal bridge, Brachycephaly, Midface retrusion	ORPHA:1913
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Frontal bossing, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Brachycepha...	ORPHA:228390
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Abnorma...	ORPHA:3121
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Gomez-Lopez-Hernandez Syndrome	Turricephaly, Posteriorly rotated ears, Short stature, Craniosynostosis, Wide anterior fontanel, ...	OMIM:601853
Autosomal Dominant Omodysplasia	Short humerus, Depressed nasal bridge, Rhizomelia, Micrognathia, Cryptorchidism, Short palm, Shor...	ORPHA:93328
Desanto-Shinawi Syndrome	Abnormal pinna morphology, Posteriorly rotated ears, Sensorineural hearing impairment, Brachyceph...	OMIM:616708
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
14Q11.2 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Micrognathia, Toe clinodactyly, Short nose	ORPHA:261120
Pontocerebellar Hypoplasia, Type 3	Short stature, Brachycephaly, Low-set ears, Macrotia, Hearing impairment	OMIM:608027
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Hypoplasi...	ORPHA:1529
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Symphalangism affecting the phalanges of ...	ORPHA:2741
Potocki-Lupski Syndrome	Micrognathia, Abnormal renal morphology, Hypocholesterolemia, Prominent nasal tip, Hypothyroidism	OMIM:610883
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Osteopenia, High-frequency sensorineural hearing impairment, Frontal bossing, Postnatal growth re...	ORPHA:2324
8Q12 Microduplication Syndrome	Short foot, Sensorineural hearing impairment, Brachycephaly	ORPHA:228399
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Attached earlobe, Brachydactyly, Toe syndactyly, Short stature, Camptodactyly of f...	ORPHA:1327
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Short stature, Cryptorchidism, Brachycephaly, Abnormal shape of the occiput, Bra...	OMIM:218350
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Short stature, Short toe, Sensorineural hearing impair...	OMIM:600430
Spermatogenic Failure 64	Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe...	OMIM:619696
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Frontal bossing, Posteriorly rotated ears, Tapered finger, Brachycephaly, Plagiocepha...	OMIM:616801
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Frontal bossing, Short tubular bones of ...	OMIM:200610
Frontonasal Dysplasia 2	Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Wide nasal r...	OMIM:613451
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Short long bone, Stillbirth, Camptodactyly, Neonatal death, Intrauterin...	OMIM:619751
Distal Duplication 18Q	Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Carious teeth, Arachnoda...	ORPHA:1716
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Brachycephaly, Conductive hearin...	OMIM:201000
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Metaphyseal widen...	OMIM:618961
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Frontal bossing, Turricephaly, Choanal atresia, Brachycephaly, Convex nasal ridge	ORPHA:93262
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Brachycephaly, Plagiocephaly, Low-set ears, Dolichocephaly, Macrotia	OMIM:615433
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Posteriorly rotated ears, Decreased fibular diameter, ...	OMIM:616897
Miller-Dieker Syndrome	Omphalocele, Anteverted nares, Clinodactyly of the 5th finger, Nephropathy, Short nose	ORPHA:531
Menkes Disease	Short stature, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Brachycephaly, Death in chi...	OMIM:309400
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Depressed nasal bridge, Anteverted nares, Cryptorchidism...	OMIM:614613
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism, Inguinal hernia	OMIM:261550
Craniosynostosis 2	Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Triphalang...	OMIM:604757
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Metaphyseal dysplasia, Depressed nasal bridge, Hypospadias, Hypercalcemia, Decreased response to ...	OMIM:614732
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Brachycephaly, Bulbous nose, Anteverted nares, Wide nasal bridge	OMIM:300958
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Frontal bossing, Depressed nasal bridge, Bulbous nose, Brachycephaly, Plagiocephaly, Short nose, ...	OMIM:618430
Short Stature, Dauber-Argente Type	Long toe, Osteopenia, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth...	OMIM:619489
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal...	OMIM:215045
Absent Eyebrows And Eyelashes With Mental Retardation	Short nose, Convex nasal ridge	OMIM:200130
Congenital Muscular Dystrophy, Fukuyama Type	Camptodactyly of finger, Brachycephaly, Plagiocephaly, Dolichocephaly, Intrauterine growth retard...	ORPHA:272
Osteopathia Striata-Cranial Sclerosis Syndrome	Frontal bossing, Increased bone mineral density, Severe short stature, Posteriorly rotated ears, ...	ORPHA:2780
Trigonocephaly 1	Trigonocephaly, Short nose, Wide nasal bridge, Craniosynostosis	OMIM:190440
German Syndrome	Short stature, Camptodactyly of finger, Micrognathia, Hearing abnormality, Brachycephaly, Dolicho...	ORPHA:2077
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Frontal bossing, Short nose, Midface retrusion, Thin calvarium	ORPHA:1129
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Brachycephaly, Short nose	OMIM:618828
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Brachycephaly, Plagiocephaly, Short nose...	ORPHA:369891
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping fingers, Overlapping toe, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, ...	OMIM:618142
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Brachycephaly, Choanal stenosis, Short...	OMIM:619859
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Hypogonadism, Short nose, Short nasal septum, Short distal phala...	OMIM:302950
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Toe syndactyly, Arachnodactyly, Short stature, Overlappi...	ORPHA:505237
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Enlarged joi...	ORPHA:1427
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormal femur morphology, Ab...	ORPHA:3429
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypopl...	OMIM:108720
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Flat occiput, Short stature, Overlapping toe, Abnormal pinna morphology, Tapered finger, Brachyce...	OMIM:617452
Holoprosencephaly-Craniosynostosis Syndrome	Short stature, Craniosynostosis, Coxa valga, Brachycephaly, Hypoplastic vertebral bodies, Plagioc...	ORPHA:2163
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Abnormal pinna morphology, Tapered finger, Brachycephaly, Large fleshy ears, Clinodactyly of the ...	ORPHA:352530
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh...	OMIM:300244
X-Linked Intellectual Disability, Sutherland-Haan Type	Macrotia, Short stature, Brachycephaly	ORPHA:93950
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Severe short stature, Abno...	ORPHA:93316
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplastic cervical verteb...	ORPHA:56304
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Stage 5 chronic kidney disease, Brachydactyly	OMIM:613819
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Severe short stature, Camptodactyly of finger, Micromelia, Abn...	ORPHA:2635
Mesomelic Dysplasia, Savarirayan Type	Short stature, Delayed closure of the anterior fontanelle, Hip dislocation, Fibular aplasia, Meso...	OMIM:605274
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Trigonocephaly, Short nose, Anteverted nares	OMIM:618506
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Short stature, Sagittal craniosynostosis, Micrognathia, Scaphocephaly, Small hand, Brachycephaly,...	ORPHA:459061
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Absent radius, Conductive hearing ...	OMIM:171480
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Frontal bossing, Arachnodactyly, Brachycephaly, Protruding ear, Bilateral talipes equinovarus, Ta...	OMIM:615539
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Short stature, Brachycephaly	ORPHA:320385
Peho-Like Syndrome	Short nose, Retrognathia, Tapered finger	OMIM:617507
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Arachnodactyly, Rocker bottom foot, Abnormal pinna morphology, Wide anterior fon...	OMIM:207410
Bone Dysplasia, Lethal Holmgren Type	Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormal thumb morphology, Abno...	ORPHA:1842
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of the odontoi...	ORPHA:239
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Retrognathia, Broad nasal tip	OMIM:613670
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Posteriorly rotated ears, Micrognathia, Wide anterior fontanel, Meta...	OMIM:263210
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Mild postnatal growth retardation, Short stature, Hearing impair...	OMIM:101800
Raine Syndrome	Death in infancy, Bowing of the long bones, Mixed hearing impairment, Short stature, Posteriorly ...	OMIM:259775
Achard Syndrome	Broad skull, Brachycephaly	OMIM:100700
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Hypoplasia of the radius, Patel...	OMIM:617604
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Short stature, Micromelia, Wide distal femoral metaphysis, Postnatal growt...	OMIM:613320
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Frontal bossing, Depressed nasal bridge, Bulbous nose, Brachycephaly, Plagiocephaly	OMIM:616789
Acrofrontofacionasal Dysostosis	Short stature, Camptodactyly of finger, Micromelia, Brachycephaly, Midface retrusion, Short dista...	ORPHA:1784
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Limb undergrowth, Narr...	OMIM:602557
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Mild postnatal growth retardation, Proximal femoral metaphys...	ORPHA:168549
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Anteverted nares, Micrognathia, Wide nasal bridge, Hydrocele testis, Hypocholesterolemia, Micropenis	OMIM:618810
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Short stature, Brachycephaly	OMIM:615031
Pterygium Colli, Isolated	Short nose	OMIM:177990
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Short stature, Brachycephaly	OMIM:309541
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Short stature, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee disloca...	OMIM:620269
Macrocephaly-Intellectual Disability-Autism Syndrome	Frontal bossing, Short nose, Depressed nasal bridge, Midface retrusion	ORPHA:210548
2Q23.1 Microdeletion Syndrome	Short stature, Sandal gap, Cryptorchidism, Brachycephaly, Growth delay, Short palm, Clinodactyly ...	ORPHA:228402
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Unilateral renal agenesis, Ureteral atresia, Short long bone, Bilateral renal a...	OMIM:618845
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot...	OMIM:246700
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Short stature, Micromelia, Abnormal thu...	ORPHA:1597
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Short stature, Hearing impairm...	ORPHA:794
Achondrogenesis Type 1B	Frontal bossing, Severe short stature, Micromelia, Micrognathia, Abnormal enchondral ossification...	ORPHA:93298
Pallister-Hall-Like Syndrome	Toe syndactyly, Depressed nasal bridge, Micromelia, Micrognathia, Postaxial hand polydactyly, Mic...	OMIM:241800
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Depressed nasal bridge	ORPHA:438178
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly, Talipes equinovarus	OMIM:619972
Bardet-Biedl Syndrome 8	Brachycephaly, Postaxial polydactyly	OMIM:615985
Smith-Magenis Syndrome	Short stature, Hearing impairment, Brachycephaly, Short palm, Abnormality of the outer ear, Midfa...	OMIM:182290
Chopra-Amiel-Gordon Syndrome	Thick nasal alae, Flared nostrils, Brachycephaly, Midface retrusion	OMIM:619504
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Achondrogenesis Type 1A	Anteverted nares, Femoral hernia, Micromelia, Micrognathia, Short foot, Short palm, Umbilical her...	ORPHA:93299
Achondrogenesis	Frontal bossing, Severe short stature, Micromelia, Abnormal enchondral ossification, Micrognathia...	ORPHA:932
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Perlman Syndrome	Hypoplasia of penis, Inguinal hernia, Anteverted nares, Femoral hernia, Micrognathia, Cryptorchid...	ORPHA:2849
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Bowing of the long bones, Severe short stature, Micrognathia, Metaphyseal chondrodysp...	OMIM:156400
Chung-Jansen Syndrome	Anteverted nares, Tapered finger, Micrognathia, Cryptorchidism, Clinodactyly of the 5th finger, S...	OMIM:617991
Al Kaissi Syndrome	Short stature, Posteriorly rotated ears, Abnormal pinna morphology, Postnatal growth retardation,...	OMIM:617694
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Hip contracture, Short stature, Coxa valga, Micrognathia, Disproportionate sho...	OMIM:618363
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Short nose, Depressed nasal bridge, Cryptorchidism	OMIM:616910
Meckel Syndrome, Type 9	Limb undergrowth, Multicystic kidney dysplasia, Talipes equinovarus	OMIM:614209
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Short stature, Micromelia, Abnormality of the ureter, Genu valgum	ORPHA:1035
Cleidocranial Dysplasia	Frontal bossing, Midface retrusion, Hypoplastic scapulae, Short stature, Hearing impairment, Tape...	ORPHA:1452
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, 2-3 toe syndactyly, Brachycephaly, Growth del...	ORPHA:3306
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Metaphyseal widening,...	ORPHA:93357
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ...	OMIM:251450
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short stature, Hypospadias, Postaxial...	OMIM:614091
Glutamine Deficiency, Congenital	Hypoglutaminemia, Depressed nasal bridge, Anteverted nares, Micromelia, Flexion contracture, Wide...	OMIM:610015
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Metaphyseal widening, Brachycephaly, Metatarsal osteolysis, Camptodacty...	OMIM:259600
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Flat occiput, Uplifted earlobe, Micrognat...	OMIM:617746
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Craniosynostosis, Bowing of the legs, Micromelia, Hypercalciuria, N...	OMIM:241500
Spondyloepimetaphyseal Dysplasia, Shohat Type	Severe short stature, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, ...	ORPHA:93352
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Short stature, Ataxia	ORPHA:1861
Antley-Bixler Syndrome	Frontal bossing, Turricephaly, Anteverted nares, Choanal atresia, Craniosynostosis, Brachycephaly...	ORPHA:83
Congenital Disorder Of Glycosylation, Type Il	Frontal bossing, Short nose, Depressed nasal bridge, Brachycephaly	OMIM:608776
Chromosome 5P13 Duplication Syndrome	Frontal bossing, Turricephaly, Craniosynostosis, Bulbous nose, Brachycephaly, Wide nasal bridge, ...	OMIM:613174
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Cryptorchidism, Nephrocalcinosis, Short long bone, Brachydactyly	OMIM:615633
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Postnatal growth retardation, Metaphyseal widening, Coxa vara, Tibi...	OMIM:608940
Cdags Syndrome	Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Sensorineural hearing impairment, ...	OMIM:603116
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Bicoronal synostosis, Flat occiput, Brachycephaly, Lambdoidal craniosynostosis	OMIM:618736
Kury-Isidor Syndrome	Finger syndactyly, Frontal bossing, Rocker bottom foot, Proximal placement of thumb, Brachycephal...	OMIM:619762
Mucopolysaccharidosis Type 2, Severe Form	Short stature, Camptodactyly of finger, Heparan sulfate excretion in urine, Dermatan sulfate excr...	ORPHA:217085
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Methylmalonic acidemia, Depressed nasal bridge, Anteverte...	OMIM:614105
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem...	ORPHA:1190
Achondrogenesis, Type Ib	Micromelia, Stillbirth, Short ribs, Absent or minimally ossified vertebral bodies, Neonatal short...	OMIM:600972
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Craniosynostosis, Brachycephaly, Choanal stenosis, Trigonocephaly, Short nose, ...	ORPHA:1790
Schwartz-Jampel Syndrome, Type 1	Waddling gait, Hip contracture, Bowing of the long bones, Congenital hip dislocation, Short statu...	OMIM:255800
Microphthalmia With Limb Anomalies	Toe syndactyly, Depressed nasal bridge, Sandal gap, Unilateral cryptorchidism, Capitate-hamate fu...	OMIM:206920
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Lateral humeral condyle aplasia, Fibular hypoplasia...	OMIM:164900
Mucopolysaccharidosis Type 2, Attenuated Form	Short stature, Camptodactyly of finger, Heparan sulfate excretion in urine, Dermatan sulfate excr...	ORPHA:217093
Ciliary Dyskinesia, Primary, 50	Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ...	OMIM:620356
Chromosome 6Q11-Q14 Deletion Syndrome	Inguinal hernia, Prominent nasal bridge, Micrognathia, Broad nasal tip, Bilateral cryptorchidism,...	OMIM:613544
4Q21 Microdeletion Syndrome	Frontal bossing, Toe syndactyly, Micromelia, Small hand, Growth delay, Short foot, Low-set ears, ...	ORPHA:238750
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ...	ORPHA:2502
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Micrognathia, Metap...	OMIM:224400
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Severe short stature, Micromelia, Bowing of the legs, Hypoplastic ilia, Microgn...	ORPHA:1865
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Short stature, Abnormal auditory evoked potentials, Coxa valga, Sensorineural hearing impairment,...	OMIM:109120
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte...	OMIM:617201
Femoral-Facial Syndrome	Inguinal hernia, Short femur, Renal hypoplasia/aplasia, Micrognathia, Cryptorchidism, Long penis,...	ORPHA:1988
Fibrochondrogenesis 2	Frontal bossing, Short nose, Anteverted nares, Midface retrusion	OMIM:614524
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f...	ORPHA:363417
Ollier Disease	Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal cartilage morphology, Micromelia	ORPHA:296
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Hydroureter, Tapered finger, Postnatal growth retardation, Nephrolithiasis, Vesicoureteral reflux...	OMIM:617219
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Short stature, Micromelia, Sandal gap, Postnatal growth retardation, Br...	OMIM:614800
Osteogenesis Imperfecta, Type Xi	Osteopenia, Short stature, Brachycephaly, Coxa vara, Hearing impairment	OMIM:610968
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Broad hallux, Clinodactyly of the 2nd toe, Micrognathia, Coxa valga, Cryptorchi...	OMIM:620073
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Brachycephaly, Protruding ear, Low-set ear...	ORPHA:776
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Depressed nasal bridge, Brachycephaly	OMIM:620240
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Sandal gap, Craniosynostosis, External ear malformation, Conductiv...	ORPHA:254346
Contractural Arachnodactyly, Congenital	Osteopenia, Frontal bossing, Bowing of the long bones, Arachnodactyly, Micrognathia, Metatarsus a...	OMIM:121050
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Short stature, Micromelia, Brachycephal...	ORPHA:1798
3P25.3 Microdeletion Syndrome	Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Micrognathia, Postaxi...	ORPHA:435638
Congenital Varicella Syndrome	Intrauterine growth retardation, Micromelia	ORPHA:291
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Frontal bossing, Short stature, Microg...	ORPHA:1225
Thanatophoric Dysplasia	Frontal bossing, Cloverleaf skull, Micromelia, Hearing impairment, Disproportionate short-limb sh...	ORPHA:2655
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Brachydactyly, Hypogonadotropic hypogonadism, Anosmia, Genu valgum, Hypoplasia of the zygomatic b...	ORPHA:1295
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98798
Pelviscapular Dysplasia	Frontal bossing, Short femur, Short stature, Hypoplastic scapulae, Hearing impairment, Abnormal p...	ORPHA:93333
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract...	ORPHA:2547
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Severe short stature, Micromelia, Micrognathia, Cryptorchidism, Short l...	OMIM:224410
Chromosome 2P16.1-P15 Deletion Syndrome	Arachnodactyly, Short stature, Posteriorly rotated ears, Postnatal growth retardation, Metatarsus...	OMIM:612513
Xq28 (MECP2) duplication	Depressed nasal bridge, Brachycephaly	DECIPHER:45
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Micromelia, Decreased calvarial ossification, Disproportionate...	ORPHA:2772
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Angulated humerus, Bowing of the long bones, Osteopenia, Rhizomelia, Short sta...	OMIM:616229
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor...	ORPHA:457395
Adenylosuccinase Deficiency	Brachycephaly, Short nose, Anteverted nares, Inappropriate laughter	OMIM:103050
Dermotrichic Syndrome	Frontal bossing, Short nose, Depressed nasal bridge	ORPHA:99688
14Q24.1Q24.3 Microdeletion Syndrome	Brachydactyly, Prominent nasal bridge, Short thumb, Cryptorchidism, Wide nasal bridge, Short nose...	ORPHA:401935
Robinow Syndrome, Autosomal Dominant 2	Thickened calvaria, Frontal bossing, Brachydactyly, Mixed hearing impairment, Short stature, Midf...	OMIM:616331
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Anteverted nares, Micrognathia, Bulbous nose, Clinodactyly, Wide nasal bridge, Camptodactyly, Sho...	OMIM:613604
Vulto-Van Silfhout-De Vries Syndrome	Prominent fingertip pads, Frontal bossing, 2-3 toe cutaneous syndactyly, Brachycephaly	OMIM:615828
Aica-Ribosuria Due To Atic Deficiency	Frontal bossing, Brachycephaly, Anteverted nares, Prominent nasal bridge	OMIM:608688
Intellectual Developmental Disorder, Autosomal Dominant 66	Arachnodactyly, Brachycephaly, Plagiocephaly, Low-set ears, Toe clinodactyly, Clinodactyly of the...	OMIM:619910
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Aplasia/Hypoplasia of the fibula,...	ORPHA:2256
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Micrognathia, Brachycephaly, Prominent antitragus, Dislocated radial head, Microretro...	OMIM:245600
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Midface retrusion, Short nose	OMIM:614744
Crouzon Syndrome	Frontal bossing, Sagittal craniosynostosis, Brachycephaly, Lambdoidal craniosynostosis, Coronal c...	OMIM:123500
Melanocytic Nevus Syndrome, Congenital	Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip	OMIM:137550
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Short distal phalanx of toe,...	OMIM:619356
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Congenital Disorder Of Glycosylation, Type Ia	Premature ovarian insufficiency, Depressed nasal bridge, Proteinuria, Hypergonadotropic hypogonad...	OMIM:212065
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Depressed n...	ORPHA:163966
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Abnormality of the kidney, Decreased serum iron, Broad nasal tip, Clinodactyly, Recurrent upper r...	ORPHA:391372
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Crossed fused renal ectopia, Finger syndactyly, Toe syndactyly, Abnormal ...	ORPHA:3258
Distal Deletion 10Q	Frontal bossing, Short stature, Sandal gap, Craniosynostosis, Tapered finger, Postnatal growth re...	ORPHA:96148
Peroxisome Biogenesis Disorder 3B	Elevated circulating phytanic acid concentration, Depressed nasal ridge, Steatorrhea, Hypocholest...	OMIM:266510
Ritscher-Schinzel Syndrome 1	Syndactyly, Missing ribs, Micrognathia, Brachycephaly, Prominent occiput, Low-set ears, Intrauter...	OMIM:220210
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f...	OMIM:250420
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, Micrognathia	ORPHA:2598
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Postnata...	OMIM:611717
Apert Syndrome	Delayed epiphyseal ossification, Brachycephaly, Cutaneous finger syndactyly, Chronic otitis media...	OMIM:101200
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Plagiocephaly, Brachycephaly	OMIM:618603
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Short tibia, Humeroradial synostosis, Miss...	OMIM:251230
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short nose, Camptodactyly of finger, Micrognathia	ORPHA:1495
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Turricephaly, Hypoplastic scapulae, Hypoplastic sacrum, M...	OMIM:200600
C Syndrome	Short metacarpal, Toe syndactyly, Short stature, Micromelia, Micrognathia, Cryptorchidism, Postax...	OMIM:211750
Acromesomelic Dysplasia 4	Broad toe, Short metacarpal, Radial bowing, Sandal gap, Prominent deltoid tuberosities, Short sta...	OMIM:619636
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Short metacarpal, Severe short stature, Monkey wrench femoral neck, Coxa va...	OMIM:615777
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Unilateral cryptorchidism, Plagiocephaly, Short stature, Brachycephaly	OMIM:618862
Microcephalic Primordial Dwarfism, Dauber Type	Short stature, Abnormal carpal morphology, Madelung deformity, Severe postnatal growth retardatio...	ORPHA:319675
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Brachycephaly, Short nose, Wide nasal bridge	OMIM:218000
Cleidocranial Dysplasia 2	Osteopenia, Aplastic clavicle, Coxa valga, Hearing impairment, Wide anterior fontanel, Genu valgu...	OMIM:620099
Alg12-Cdg	Hyponatremia, Wide nose, Hypospadias, Prominent nasal bridge, Sandal gap, Micrognathia, Proximal ...	ORPHA:79324
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol...	OMIM:616834
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Broad nasal tip, Clinodactyly of t...	OMIM:619736
Gorlin Syndrome	Frontal bossing, Brachycephaly, Wide nasal bridge, Abnormality of the sense of smell	ORPHA:377
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Short nose	ORPHA:2429
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Ulnar deviation of finger, Short n...	ORPHA:1895
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge	OMIM:612563
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Omphalocele, Anteverted nares, Broad hallux, Sandal gap, Micrognathia, Broad nasa...	OMIM:618529
Congenital Disorder Of Glycosylation, Type Iit	Sandal gap, Short stature, Posteriorly rotated ears, Small hand, Brachycephaly, Short foot, Low-s...	OMIM:618885
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Narrow nasal ...	OMIM:608612
Richieri-Costa/Guion-Almeida Syndrome	Brachycephaly, Short stature, Abnormal digit morphology, Hearing impairment	OMIM:268850
Gorlin-Chaudhry-Moss Syndrome	Short stature, Brachycephaly, Abnormal metacarpal morphology, Conductive hearing impairment, Coro...	ORPHA:2095
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Brachycephaly, Clinod...	ORPHA:3103
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Tibial bowing, Abnormal pelvic girdle bone morphology, Lim...	OMIM:166210
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Baker-Gordon Syndrome	Prominent nasal tip, Short nose	OMIM:618218
Hypertrichosis Cubiti	Abnormality of the elbow, Severe short stature, Rhizomelia, Micromelia	ORPHA:2220
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
Stevenson-Carey Syndrome	Prominent nasal tip, Anteverted nares, Brachycephaly, Underdeveloped nasal alae	OMIM:611961
Cerebellar Ataxia-Hypogonadism Syndrome	Clinodactyly of the 5th finger, Short stature, Brachycephaly	ORPHA:1173
Monosomy 18P	Short stature, Micrognathia, Brachycephaly, Protruding ear, Abnormal antihelix morphology, Macrot...	ORPHA:1598
Hall-Riggs Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Prominent nose, W...	ORPHA:2107
Martsolf Syndrome 1	Short metacarpal, Short stature, Posteriorly rotated ears, Micrognathia, Metatarsus adductus, Sle...	OMIM:212720
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Aminoaciduria	ORPHA:833
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Anteverted nares, Elevated circulating lutei...	OMIM:305400
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Coxa valga, Metatarsus adductus, Avascular necrosis of the cap...	ORPHA:2557
Greenberg Dysplasia	Micromelia, Micrognathia, Patchy variation in bone mineral density, Tetraphocomelia, Hypoplastic ...	OMIM:215140
Smith-Magenis Syndrome	Frontal bossing, Midface retrusion, Toe syndactyly, Short stature, Micrognathia, Conductive heari...	ORPHA:819
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Sho...	OMIM:613443
Osteoglophonic Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, Short palm,...	OMIM:166250
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Abnormality of the kidney, Micromelia, Hypoplastic ilia, A...	ORPHA:1860
Ohdo Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Hypopl...	OMIM:249620
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Short nose	OMIM:611936
Vitamin K Antagonist Embryofetopathy	Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Short nose, Short dista...	ORPHA:1914
Intellectual Developmental Disorder, Autosomal Dominant 1	Frontal bossing, Prominent nose, Bulbous nose, Depressed nasal ridge, Brachycephaly, Short colume...	OMIM:156200
Neurodegeneration With Brain Iron Accumulation 2A	Frontal bossing, Short nose, Impaired social interactions	OMIM:256600
Aica-Ribosiduria	Brachycephaly	ORPHA:250977
Cutis Laxa, Autosomal Recessive, Type Iiia	Frontal bossing, Short stature, Brachycephaly, Talipes equinovarus, Low-set ears, Intrauterine gr...	OMIM:219150
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Arachnodactyly, Short stature, Micrognathia, Calcaneovalgus deformity, Adducted thumb, Brachyceph...	ORPHA:562528
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Midface retrusion, Rhizomelia, Posteriorly rotated ears, Metaphyseal widening, Short finger, Meso...	OMIM:612813
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Frontal bossing, Short stature, Brachycephaly, Symphalangism affecting the phalanges of the hand,...	ORPHA:1292
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Decreased response to growth hormone stimulation test, Tapered finger, Bilateral c...	ORPHA:485405
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Enlarged joints, Short stature, Large tarsal bones, Micrognathia, Premature...	OMIM:215150
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ...	OMIM:228520
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia, ...	ORPHA:79107
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Broad long bones, Short stature, Abnormal metatarsal morphology, Cryptorchidism, Rhizo-meso-acrom...	ORPHA:163654
Kleefstra Syndrome Due To A Point Mutation	Short stature, Uplifted earlobe, Tapered finger, Brachycephaly, Plagiocephaly, Midface retrusion,...	ORPHA:261652
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Waddling gait, S...	OMIM:300106
3M Syndrome	Hypoplasia of the ulna, Congenital hip dislocation, Short stature, Rocker bottom foot, Hypospadia...	ORPHA:2616
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Depressed nasal bridge, Duplication of thumb phalanx, Tarsal synost...	ORPHA:2756
Fibrochondrogenesis	Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Hearing abnormality, Wi...	ORPHA:2021
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplasia of the radius, Prominent occiput, Short...	OMIM:617895
Williams-Beuren Region Duplication Syndrome	Short stature, Micrognathia, Brachycephaly, Chronic otitis media, Overfolded helix	OMIM:609757
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly,...	OMIM:613091
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Anteverted nares, Carious teeth, Cryptorchidism, Short nose, Brachydactyly	ORPHA:2701
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Coxa val...	OMIM:618150
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Radial deviation of the hand, Short stature, Rocker bottom foot, Posteriorly r...	OMIM:301041
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Low-set, posteriorly rotated ears, Midface retrusion, Rhizomelia, Posteriorly rotated ears, Mesom...	ORPHA:171866
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Frontal bossing, Severe short stature, Rhizomelia, Wide anterior fontanel, Disproportionate short...	OMIM:616482
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Omphalocele, Depressed nasal bridge, Anteverted nares, Hypospadias, Prominent nose, Ove...	OMIM:618316
Craniosynostosis And Dental Anomalies	Flat occiput, Clinodactyly, Brachycephaly, Conductive hearing impairment, Chronic otitis media, S...	OMIM:614188
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Frontal bossing, Tarsal synostosis, Aplastic clavicle, Micrognathia, Parietal foramina, Wide ante...	ORPHA:85199
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met...	OMIM:602875
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, Brachycephaly, Wide nasal bridg...	OMIM:300260
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Cloverleaf skull, Frontal bos...	ORPHA:87
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares, Long hallux, Tapered finger	OMIM:619854
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Frontal bossing, Posteriorly rotated ears, Rocker bottom foot, Sensorineural hearing i...	OMIM:612582
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Death in infancy, Micrognathia, Postnatal growth retardation, Wide anteri...	OMIM:619135
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Prominent nasal bridge, Tapered finger, Bulbous nose, Flexion contracture, Micropenis, Interphala...	OMIM:613870
Short Stature, Microcephaly, And Endocrine Dysfunction	Broad-based gait, Short stature, Ataxia, Unilateral renal agenesis, Ectopic kidney, Cryptorchidis...	OMIM:616541
Intellectual Developmental Disorder, X-Linked 30	Prominent fingertip pads, Short nose, Anteverted nares, Prominent nasal bridge	OMIM:300558
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint dislocation, Microretrognathia, Short stature, Monkey wrench femoral neck, Micromelia, 2-3 ...	OMIM:618870
Baller-Gerold Syndrome	Micrognathia, Brachycephaly, Patellar hypoplasia, Conductive hearing impairment, Hypoplasia of th...	OMIM:218600
Insulin-Like Growth Factor I Deficiency	Osteopenia, Short stature, Micrognathia, Postnatal growth retardation, Sensorineural hearing impa...	OMIM:608747
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Stapes ankylosis, Short stature, 2-3 toe syndactyly, Coxa vara, Brachycephaly, Radiou...	OMIM:614701
11Q22.2Q22.3 Microdeletion Syndrome	Abnormal social behavior, Depressed nasal bridge	ORPHA:444002
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Short stature, Postaxial hand polydactyly, Chronic kidney disease, Cone-shaped epiphyses of the p...	OMIM:615630
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Frontal bossing, Brachyturricephaly, Depressed nasal ridge, Choanal atresia	OMIM:607597
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip	OMIM:615716
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Neurofaciodigitorenal Syndrome	Short stature, Abnormal distal phalanx morphology of finger, External ear malformation, Brachycep...	ORPHA:2673
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Congenital Disorder Of Glycosylation, Type Iu	Short nose, Elevated circulating creatine kinase concentration, Congenital contracture, Micrognathia	OMIM:615042
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Prominent nasal bridge, Camptodactyly of finger, Underdeveloped nasal alae, ...	ORPHA:2083
Momo Syndrome	Frontal bossing, Short stature, Underfolded helix, Brachycephaly, Femoral bowing, Large hands, Sh...	ORPHA:2563
Meckel Syndrome, Type 8	Depressed nasal ridge, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Short nose,...	OMIM:613885
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Abnormal dental enamel morph...	ORPHA:1458
Thanatophoric Dysplasia Type 2	Frontal bossing, Brachydactyly, Cloverleaf skull, Short stature, Micromelia, Abnormal metaphysis ...	ORPHA:93274
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Metatarsus adductus, Short toe, 4-5 toe syndactyly, Unst...	ORPHA:3041
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Short nose, Macroorchidism	OMIM:300143
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Short nose, Postaxial hand polydactyly	ORPHA:1389
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Short stature, Posteriorly rotated ears, Proximal placement of thumb, Coxa valga, Pos...	OMIM:212066
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Abnormal hand morphology, Osteolysis involving bones of the upper limbs, Osteoporosis...	ORPHA:371428
Frank-Ter Haar Syndrome	Osteopenia, Bowing of the long bones, Cortical irregularity, Flat occiput, Micrognathia, Metatars...	OMIM:249420
Donnai-Barrow Syndrome	Omphalocele, Depressed nasal bridge, Proteinuria, Congenital diaphragmatic hernia, Umbilical hern...	ORPHA:2143
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Flat occiput, Anteverted nares, Wide nasal bridge, Plagiocephaly, Short nose...	OMIM:619383
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Hypospadias, Narrow nasal ridge, Prominent nose, Micrognathia, Rocker bot...	ORPHA:363528
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ...	OMIM:187600
Oculodentodigital Dysplasia, Autosomal Recessive	Frontal bossing, Short stature, Fifth finger distal phalanx clinodactyly, Micrognathia, 4-5 finge...	OMIM:257850
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Low-set, posteriorly rotated ears, Enlarged interphalangeal joints, Proximal placement of thumb, ...	ORPHA:2988
Marshall Syndrome	Frontal bossing, Depressed nasal bridge, Anteverted nares, Brachycephaly, Wide nasal bridge, Shor...	ORPHA:560
X-Linked Intellectual Disability, Wilson Type	Growth delay, Brachycephaly, Hydrocele testis	ORPHA:85290
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever...	ORPHA:85167
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Frontal bossing, Toe syndactyly, Short stature, Posteriorly rotated ears, Proximal placement of t...	OMIM:610759
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Hypoplasia of the maxilla, Genu valgum, Limb undergrowth, Overhanging nasa...	OMIM:619142
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Nephrolithiasis, Obstructive azoospermia	OMIM:301060
Ciliary Dyskinesia, Primary, 45	Male infertility, Chronic rhinitis, Absent inner and outer dynein arms	OMIM:618801
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Depressed nasal bridge, Anteverted nares, Abnormal nasal morphology, Brachycephaly, Wide nasal br...	ORPHA:404440
20Q11.2 Microduplication Syndrome	Depressed nasal bridge, Anteverted nares, Trigonocephaly, Wide nasal bridge, Brachycephaly, Abnor...	ORPHA:363659
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Severe short stature, Micromelia, Abnormal shoulder morpholog...	ORPHA:1422
Osteogenesis Imperfecta, Type Xx	Posteriorly rotated ears, Brachycephaly, Plagiocephaly, Disproportionate short-limb short stature...	OMIM:618644
Non-Distal Duplication 13Q	Arachnodactyly, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Short nose	ORPHA:1702
Saethre-Chotzen Syndrome	Brachycephaly, Partial duplication of the distal phalanx of the 3rd finger, Clinodactyly of the 5...	OMIM:101400
Warburg Micro Syndrome 2	Overlapping toe, Asymmetry of the ears, Postnatal growth retardation, Brachycephaly, Macrotia, Cl...	OMIM:614225
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Depressed nasal bridge, Flat occiput, Anteverted nares, Brachycephaly	OMIM:618797
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Frontal bossing, Abnormal pinna morphology, Postaxial polydactyly, Micrognathia, Wide anterior fo...	OMIM:617925
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Brachycephaly	ORPHA:70472
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Short nos...	OMIM:614069
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Postaxial polydactyly, Micromelia, Micrognathia, Missing ribs, Ulnar bowing, Preax...	OMIM:617866
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ataxia, Inability to walk, Abnormal medullary pyramid morphology, Limb undergrowth, Intrauterine ...	ORPHA:79243
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Hypoplastic pubic bone, Flared metaphysis, Short long bone, Small epiphyses, Delayed ossification...	ORPHA:93346
5Q14.3 Microdeletion Syndrome	Short nose, Toe syndactyly, Anteverted nares	ORPHA:228384
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Frontal bossing, Short nose, Thick nasal alae	ORPHA:163961
Pallister-Hall Syndrome	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Ecto...	OMIM:146510
Cardioacrofacial Dysplasia 2	Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot...	OMIM:619143
Chromosome 13Q33-Q34 Deletion Syndrome	Short stature, Overlapping toe, Posteriorly rotated ears, Tapered finger, Micrognathia, Short thu...	OMIM:619148
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Brachycephaly, Femoral bowing, Conductive hearing impairment, Short metacarpal, Abnormal metacarp...	ORPHA:95699
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Narrow greater sciatic notch, Short phalanx of finger, Broa...	ORPHA:508533
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Rocker bottom foot, Micrognathia, Brach...	OMIM:606851
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Nephrocalcinosis, Short palm, Micropenis, Duplication of the distal phalanx of hand...	OMIM:268310
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Ulnar deviation of the 3rd finger, Mild postnatal growth retardation, Proximal placement of thumb...	ORPHA:456312
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti...	OMIM:617091
Cerebrooculonasal Syndrome	Low-set, posteriorly rotated ears, Postaxial hand polydactyly, Brachycephaly, Abnormal tragus mor...	ORPHA:66625
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Frontal bossing, Depressed nasal bridge, Anteverted nares, Concave nasal ridge, Short nose, Midfa...	OMIM:613038
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ...	ORPHA:93260
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Brachycephaly, Femoral bowing, Clinodactyly of the 5th finger, Phocomelia, Short ph...	OMIM:274000
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Broad nasal tip, Wide nasal bridge, Plagiocephaly, Left unicoronal synostosis, Short nose, Anteri...	OMIM:614749
Ritscher-Schinzel Syndrome 4	Ulnar deviation of the hand, Short stature, Tapered finger, Brachycephaly, Plagiocephaly, Macrotia	OMIM:619435
Ciliary Dyskinesia, Primary, 36, X-Linked	Nasal congestion, Male infertility, Recurrent sinusitis	OMIM:300991
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Ulnar deviation of the 3rd finger, Short stature, Proximal placement of thumb, Postnatal growth r...	OMIM:616263
Verheij Syndrome	Anteverted nares, Renal agenesis, Broad nasal tip, Clinodactyly, Wide nasal bridge, Renal cyst, R...	OMIM:615583
49,Xxxxy Syndrome	Wide nose, Depressed nasal bridge, Shyness, Depressed nasal ridge, Brachycephaly, Overfriendliness	ORPHA:96264
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Congenital Disorder Of Glycosylation, Type Iq	Depressed nasal bridge, Brachycephaly	OMIM:612379
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva...	OMIM:620103
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Micrognathia, Tibial bowing, Congenital bilateral hip dislocation, Limb under...	ORPHA:453510
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Hypoplasia of penis, Micromelia, Aplasia of the ulna, Mi...	ORPHA:2879
Lig4 Syndrome	Brachycephaly, Convex nasal ridge, Wide nasal bridge, Biparietal narrowing	ORPHA:99812
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Wide nose, Anteverted nares, Micrognathia, Deviation of the 5th toe, Clinodactyly, Slender toe, H...	ORPHA:391408
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Carious teeth, Cryptorchidism, Small hand, Hypoplasia of th...	ORPHA:1786
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Short femur, Limited elbow movement, Micrognathia, Disproportionate short-trunk sh...	ORPHA:94068
Harel-Yoon Syndrome	Mandibular prognathia, Short nose, Micrognathia	OMIM:617183
Xylt1-Cdg	Joint dislocation, Short stature, Coxa valga, Flared metaphysis, Growth delay, Short long bone, S...	ORPHA:370930
Trisomy 20P	Low-set, posteriorly rotated ears, Finger syndactyly, Frontal bossing, Camptodactyly of finger, M...	ORPHA:261318
Warburg Micro Syndrome 4	Short stature, Cryptorchidism, Brachycephaly, Severe postnatal growth retardation, Decreased test...	OMIM:615663
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bulbous nose, Wide nasal bridge, Short nose	OMIM:620292
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Short stature, Posteriorly rotated ears, Micrognathia, Cupped ...	ORPHA:264200
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Short stature, Rhizomelia, Broad femoral neck, Hypospadias, Postnatal growth...	OMIM:611209
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Depressed nasal bridge	ORPHA:2835
Spermatogenic Failure 2	Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia	OMIM:108420
Osteogenesis Imperfecta, Type X	Osteopenia, Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micromelia, Microgn...	OMIM:613848
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Pycnodysostosis	Frontal bossing, Increased bone mineral density, Rhizomelia, Micrognathia, Generalized osteoscler...	ORPHA:763
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Brachydactyly, Depressed nasal bridge, Anteverted nares, Rhizomelia, Flat ...	OMIM:271510
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Nasal polyposis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella	OMIM:620197
Arthrogryposis, Distal, Type 2A	Hip contracture, Inguinal hernia, Rocker bottom foot, Shoulder flexion contracture, Underdevelope...	OMIM:193700
Warburg Micro Syndrome 3	Micrognathia, Postnatal growth retardation, Brachycephaly, Clinodactyly of the 5th finger, Macrotia	OMIM:614222
Al-Raqad Syndrome	Short nose, Sandal gap, Brachydactyly	OMIM:616459
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Absent urinary urothione...	OMIM:252150
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Depressed nasal bridge, Anteverted nares, Brachycephaly, Lambdoidal craniosynostosis, Short nose	OMIM:615398
Teebi Hypertelorism Syndrome 1	Natal tooth, Depressed nasal bridge, Anteverted nares, Micrognathia, Small hand, Wide nasal bridg...	OMIM:145420
Rhyns Syndrome	Renal insufficiency, Radial bowing, Short stature, Chronic kidney disease, Short long bone, Short...	OMIM:602152
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Short stature, Proteinuria, Bowing of the legs, Hypoplastic ilia, Chronic ...	ORPHA:1855
Spermatogenic Failure 15	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:616950
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn...	OMIM:271665
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Brachycephaly, Bifid nose, Midline defect of the nose, Short nose, Mid...	OMIM:229400
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Short stature, Micrognathia, Postnatal growth retardation, Wide anterior fontanel, Sh...	OMIM:225410
Smith-Kingsmore Syndrome	Rhizomelia, Depressed nasal bridge, Short proximal phalanx of finger, Cryptorchidism, Short nose,...	OMIM:616638
Alagille Syndrome	Hypoplasia of the ulna, Frontal bossing, Micrognathia, Brachycephaly, Protruding ear, Delayed pub...	ORPHA:52
Hamamy Syndrome	Long toe, Syndactyly, Osteopenia, Craniosynostosis, Tapered finger, Micrognathia, Long fingers, S...	OMIM:611174
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Advanced eruption...	OMIM:614753
Ellis-Van Creveld Syndrome	Hypospadias, Capitate-hamate fusion, Postaxial hand polydactyly, Epispadias, Cryptorchidism, Genu...	OMIM:225500
Macrocephaly/Autism Syndrome	Frontal bossing, Depressed nasal bridge, Biparietal narrowing, Short nose, Midface retrusion	OMIM:605309
Tetrasomy 12P	Delayed eruption of teeth, Short nose, Anteverted nares, Hypohidrosis	ORPHA:884
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Aplasia/Hypoplasia of the distal phalanges of th...	ORPHA:1234
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Short stature, Abnormal pinna morphology, Long fingers, ...	OMIM:309583
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Decreased response to growth...	OMIM:615866
Distal Duplication 5Q	Hypoplasia of the ulna, Prominent nasal bridge, Micrognathia, Carious teeth, Absent thumb, Crypto...	ORPHA:96097
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Frontal bossing, Arachnodactyly, Posteriorly rotated ears, Abnormal pinna morphology,...	OMIM:182212
Chromosome 19Q13.11 Deletion Syndrome, Distal	Anteverted nares, Overlapping toe, Micrognathia, Underdeveloped nasal alae, Carious teeth, Crypto...	OMIM:613026
Cerebrooculonasal Syndrome	Frontal bossing, Posteriorly rotated ears, Postaxial polydactyly, Craniosynostosis, Postnatal gro...	OMIM:605627
Trisomy 9P	Brachycephaly, Protruding ear, Clinodactyly of the 5th finger, Macrotia, Brachydactyly	ORPHA:236
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Posteriorly rotated ears, Rocker bottom foot, Hearing impairment, Tapered finger, Brachycephaly, ...	OMIM:601353
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Posteriorly rotated ears, Talipes equinovarus, Low-set ears, Camptodactyly, Campto...	OMIM:300280
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Aplasia/Hypoplasia of the clavicles, Acroosteolysis of distal phalanges (feet), Abnor...	ORPHA:90154
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Abnormal dental enamel morphology, Sandal gap, Cryptorchidism, Abnormal f...	ORPHA:1812
Linear Skin Defects With Multiple Congenital Anomalies 2	Short nose, Sandal gap, Congenital diaphragmatic hernia	OMIM:300887
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Depressed nasal bridge, Sandal gap, Micrognathia, Tapered finger, Bulbous nose, Wide nasal bridge...	OMIM:617061
Baraitser-Winter Syndrome 1	Anteverted nares, Wide nasal bridge, Trigonocephaly, Short nose, Midface retrusion	OMIM:243310
Toluene Embryopathy	Tapered finger, Micrognathia, Cryptorchidism, Hypoplasia of the zygomatic bone, Short nose	ORPHA:1920
Smith-Lemli-Opitz Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cyst, ...	OMIM:270400
Chromosome 17P13.1 Deletion Syndrome	Hallux valgus, Turricephaly, Arachnodactyly, Broad hallux, Proximal placement of thumb, Tapered f...	OMIM:613776
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93259
Dubowitz Syndrome	Syndactyly, Inguinal hernia, Hypospadias, Prominent nasal bridge, Micrognathia, Broad nasal tip, ...	OMIM:223370
Beck-Fahrner Syndrome	Brachycephaly, Impaired social interactions	OMIM:618798
Kleefstra Syndrome 1	Brachydactyly, Abnormal pinna morphology, Brachycephaly, Talipes equinovarus, Midface retrusion, ...	OMIM:610253
Acromelic Frontonasal Dysplasia	Broad nasal tip, Bifid nasal tip, Brachycephaly, Bifid nose, Thick nasal alae	ORPHA:1827
White-Sutton Syndrome	Short stature, Posteriorly rotated ears, Micrognathia, Sensorineural hearing impairment, Brachyce...	OMIM:616364
Weill-Marchesani Syndrome 1	Thin bony cortex, Short stature, Proportionate short stature, Broad skull, Brachycephaly, Broad p...	OMIM:277600
Kaufman Oculocerebrofacial Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Metatarsus adductus, Hypocholesterolemia,...	OMIM:244450
Opsismodysplasia	Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti...	OMIM:258480
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Small hand, Brachycephaly, Short foot, Plagiocephaly, Hearing impairment	ORPHA:500055
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ...	ORPHA:261211
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Brachycephaly, Dolichocephaly, Short nose	ORPHA:357001
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Depressed nasal bridge, Anteverted nares...	ORPHA:50945
Severe X-Linked Intellectual Disability, Gustavson Type	Rocker bottom foot, Micrognathia, Recurrent upper respiratory tract infections, Calcaneovalgus de...	ORPHA:3078
Lowry-Maclean Syndrome	Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Bila...	ORPHA:2409
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Kleefstra Syndrome Due To 9Q34 Microdeletion	Flat occiput, Anteverted nares, Brachycephaly, Short nose, Midface retrusion	ORPHA:96147
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Overlapping toe, Micrognathia, Clinodactyly, Micropenis...	OMIM:617822
De Barsy Syndrome	Osteopenia, Short stature, Postnatal growth retardation, Brachycephaly, Coxa vara, Large earlobe,...	ORPHA:2962
Distal Deletion 3P	Low-set, posteriorly rotated ears, Short stature, Micrognathia, Postaxial hand polydactyly, Brach...	ORPHA:1620
Tetrasomy 18P	Large hands, Short nose	ORPHA:3307
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Hypoparathyroidism, Micromelia, Short nose, Adducted thumb	ORPHA:50810
Hyperphosphatasia-Intellectual Disability Syndrome	Micrognathia, Cupped ear, Brachycephaly, Shortening of all distal phalanges of the fingers, Growt...	ORPHA:247262
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hyp...	ORPHA:2239
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Anteverted nares, Sandal gap, Short toe, Anterior open-bite malocclusion, Clino...	OMIM:617877
Aymé-Gripp Syndrome	Short stature, Rocker bottom foot, Posteriorly rotated ears, Tapered finger, Postnatal growth ret...	ORPHA:1272
9P13 Microdeletion Syndrome	Microretrognathia, Short stature, Abnormality of cartilage of external ear, Brachycephaly, Recurr...	ORPHA:324313
Lig4 Syndrome	Brachycephaly, Wide nasal bridge, Prominent nose	OMIM:606593
Renal And Mullerian Duct Hypoplasia	Frontal bossing, Short nose	OMIM:266810
2P15P16.1 Microdeletion Syndrome	Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus adductus, Brachycephaly, Protrudi...	ORPHA:261349
Radio-Renal Syndrome	Multicystic kidney dysplasia, Severe short stature, Renal agenesis, Micromelia, Renal hypoplasia/...	ORPHA:3015
Gm1 Gangliosidosis	Short stature, Camptodactyly of finger, Ataxia, Unsteady gait, Abnormal diaphysis morphology, Gai...	ORPHA:354
Cerebrofaciothoracic Dysplasia	Wide nose, Brachycephaly, Short nose, Midface retrusion	ORPHA:1394
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Short stature, Craniosynostosis, Irregular carpal...	OMIM:252600
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Hyperparathyroidism, Transient Neonatal	Osteopenia, Frontal bossing, Short femur, Metaphyseal spurs, Brachycephaly, Femoral bowing, Subpe...	OMIM:618188
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Cryptorchidism, Short nose, Micrognathia	ORPHA:496790
Oculocerebrofacial Syndrome, Kaufman Type	Flat occiput, Arachnodactyly, Micrognathia, Brachycephaly, Growth delay	ORPHA:2707
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Absent pubertal growth spurt, Hypoplasia of the odontoid process, Metaphys...	OMIM:250250
Momo Syndrome	Frontal bossing, Brachycephaly, Wide nasal bridge	OMIM:157980
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Decreased testicular size, Wide nose, Broad hallux, Prominent nasal bridge, Micrognathia, Slender...	ORPHA:251028
Dpm1-Cdg	Sandal gap, Ataxia, Micrognathia, Knee flexion contracture, Camptodactyly, Limb undergrowth, Long...	ORPHA:79322
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ulnar deviation of the hand, Posteriorly rotated ears, Rocker bottom foot, Hearing impairment, Mi...	OMIM:214100
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Distal Deletion 9P	Trigonocephaly, Short nose, Wide nasal bridge, Midface retrusion	ORPHA:1642
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Short stature, Posteriorly rotated ears, Postaxial polydactyly, Tapered finger, Small hand, Brach...	OMIM:300968
Cornelia De Lange Syndrome 1	Short stature, Micromelia, Micrognathia, Proximal placement of thumb, Conductive hearing impairme...	OMIM:122470
Craniofrontonasal Syndrome	Frontal bossing, Toe syndactyly, Broad hallux, Short stature, Cryptorchidism, Brachycephaly, Clin...	OMIM:304110
Fetal Hydantoin Syndrome	Cryptorchidism, Depressed nasal ridge, Triphalangeal thumb, Short nose, Short distal phalanx of f...	ORPHA:1912
Developmental And Epileptic Encephalopathy 75	Short nose, Anteverted nares, Wide nasal bridge	OMIM:618437
Ayme-Gripp Syndrome	Short stature, Posteriorly rotated ears, Hearing impairment, Tapered finger, Sensorineural hearin...	OMIM:601088
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short nose, Anteverted nares, Dolichocephaly	ORPHA:1185
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Den Hoed-De Boer-Voisin Syndrome	Sandal gap, Posteriorly rotated ears, Small hand, 2-3 toe syndactyly, Brachycephaly, Death in ado...	OMIM:619229
Weill-Marchesani Syndrome 2	Short metacarpal, Thin bony cortex, Short stature, Thickened helices, Proportionate short stature...	OMIM:608328
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Inguinal hernia, Tapered finger, Flexion contracture, Finger joint hypermobi...	ORPHA:544503
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Short nose	ORPHA:90653
Microcephaly-Capillary Malformation Syndrome	Wide nose, Brachydactyly, Hypoplasia of the maxilla, Clinodactyly, Short nose, Short distal phala...	OMIM:614261
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea	OMIM:607765
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit...	OMIM:614874
Spermatogenic Failure 6	Globozoospermia, Decreased acrosin in sperm head, Male infertility	OMIM:102530
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Short nose, Clinodactyly	OMIM:618087
Marshall Syndrome	Radial bowing, Depressed nasal bridge, Anteverted nares, Micrognathia, Absent frontal sinuses, Co...	OMIM:154780
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Short toe, Renal hypoplasia, Short foot, Short long bon...	OMIM:269860
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Depressed nasal bridge, Hypospadias, Anteverted nares, Proximal placement of thumb, M...	OMIM:217980
Peho Syndrome	Short nose, Retrognathia, Tapered finger	OMIM:260565
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Hallermann-Streiff Syndrome	Frontal bossing, Proportionate short stature, Micrognathia, Metaphyseal widening, Scaphocephaly, ...	OMIM:234100
Leukodystrophy, Hypomyelinating, 10	Arachnodactyly, Bulbous nose, Anteverted nares, Short nose	OMIM:616420
Diaphanospondylodysostosis	Inguinal hernia, Nephrogenic rest, Depressed nasal bridge, Micrognathia, Missing ribs, Nephroblas...	OMIM:608022
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Short stature, Limited elbow movement, Limited wrist movement, Short foot, ...	OMIM:617809
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Delayed epiphyseal ossification, Preaxial polydactyly, Renal cyst, Femo...	OMIM:210710
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Broad columella, Finger synd...	ORPHA:2710
48,Xxxy Syndrome	Abnormal social behavior, Depressed nasal ridge, Brachycephaly	ORPHA:96263
Ciliary Dyskinesia, Primary, 9	Male infertility, Recurrent sinusitis, Chronic rhinitis, Absent outer dynein arms	OMIM:612444
X-Linked Intellectual Disability Due To Gria3 Mutations	Macrotia, Short stature, Brachycephaly, Uplifted earlobe	ORPHA:364028
Kagami-Ogata Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Long fingers, ...	OMIM:608149
Down Syndrome	Depressed nasal bridge, Sandal gap, Renal hypoplasia/aplasia, Depressed nasal ridge, Decreased fe...	ORPHA:870
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Brachycephaly, Genu valgum, Growth delay, Posterior plagiocephaly, Microtia	OMIM:617798
Angelman Syndrome	Brachycephaly, Flat occiput, Paroxysmal bursts of laughter	OMIM:105830
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyly, Renal cyst, Micropha...	OMIM:618454
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Anteverted nares, Biparietal narrowing, Underdeveloped nasal alae	ORPHA:2031
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Sho...	OMIM:122880
Trisomy 12P	Short nose, Wide nasal bridge, Turricephaly	ORPHA:1699
Hsd10 Disease	Abnormal social behavior	ORPHA:391417
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Dec...	ORPHA:96180
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Ulnar deviation of the wrist, 2-3 toe syndactyly, Knee flexion contracture, Irregular...	OMIM:618162
Bainbridge-Ropers Syndrome	Ulnar deviation of the hand, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Un...	OMIM:615485
Acro-Renal-Ocular Syndrome	Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger syndactyly, Broad hall...	ORPHA:959
Mosaic Variegated Aneuploidy Syndrome 1	Short stature, Posteriorly rotated ears, Micrognathia, Postnatal growth retardation, Brachycephal...	OMIM:257300
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Tapered finger, Wide nasal bridge, Hypoplasia of teeth, Short nose, Retrognathia	OMIM:620250
Chylomicron Retention Disease	Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Campomelia, Cumming Type	Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Clubbing o...	ORPHA:1318
Chondrodysplasia Punctata, Autosomal Dominant	Hypoplasia of the nasal bone, Talipes equinovarus	OMIM:118650
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Short lower limbs, Short stature, Increased urinary type 1 collagen N-terminal ...	ORPHA:93315
Ciliary Dyskinesia, Primary, 19	Male infertility, Nasal polyposis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis	OMIM:614935
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Bulbous nose, Depressed nasal bridge, Choanal atresia, Short nose	ORPHA:284169
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short lon...	OMIM:615503
Bifid Nose With Or Without Anorectal And Renal Anomalies	Brachycephaly, Bulbous nose, Bifid nose	OMIM:608980
Donnai-Barrow Syndrome	Omphalocele, Proteinuria, Depressed nasal bridge, Congenital diaphragmatic hernia, Broad nasal ti...	OMIM:222448
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Trigonocephaly, Short nose, Midface retrusion	OMIM:610536
Difference Of Sex Development-Intellectual Disability Syndrome	Short nose, Hypogonadism, Genu valgum	ORPHA:2983
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxi...	OMIM:616300
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
3C Syndrome	Finger syndactyly, Hypoplasia of penis, Inguinal hernia, Depressed nasal bridge, Hypospadias, Mic...	ORPHA:7
Brachytelephalangic Chondrodysplasia Punctata	Short distal phalanx of finger, Broad nasal tip, Hypoplasia of the maxilla, Abnormal ossification...	ORPHA:79345
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Posteriorly rotated ears, Proportionate short stature, Metatarsus adductus, Brachycep...	OMIM:227330
Orofaciodigital Syndrome Type 2	Micrognathia, Finger clinodactyly, Short tibia, Finger syndactyly, Broad hallux, Adactyly, Talon ...	ORPHA:2751
Opsismodysplasia	Depressed nasal bridge, Tapered finger, Hypoplastic vertebral bodies, Short nose, Abnormal metaph...	ORPHA:2746
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short metacarpal, Short fourth metatarsal, Depressed nasal bridge, Overlapping toe, Femoral bowin...	OMIM:616723
Congenital Heart Defects And Skeletal Malformations Syndrome	Arachnodactyly, Sandal gap, Long nose, Carious teeth, Cryptorchidism, Camptodactyly, Clinodactyly...	OMIM:617602
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Short nose, Depressed nasal bridge, Micrognathia	OMIM:617802
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Tibial bowing, Hyperhidrosis, Short tibia, Short phalanx of finger,...	OMIM:601559
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Plagiocephaly, Frontal bossing, Brachycephaly	OMIM:617296
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Long penis, Macroorchidism, Oligozoospermia	ORPHA:3000
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, ...	OMIM:616894
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Frontal bossing, Short stature, Posteriorly rotated ears, Micrognathia, Brachy...	ORPHA:1974
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Hypospadias, Unilateral cryptorchidism, Female infertility, Crypt...	ORPHA:261529
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognath...	ORPHA:1908
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Frontal bossing, Bulbous nose, Wide nasal bridge, Dolichocephaly, Short nose	OMIM:618571
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Aplasia of the nasal bone, Flexion contracture of finger, Brachydactyl...	OMIM:601812
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Distal Deletion 12Q	Frontal bossing, Short stature, Broad hallux, Overlapping toe, Micrognathia, Prominent ear helix,...	ORPHA:96149
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Decreased response to growth hormone stimulation t...	OMIM:616007
Acromelic Frontonasal Dysostosis	Broad nasal tip, Bifid nasal tip, Parietal foramina, Wide nasal bridge, Brachycephaly, Bifid nose...	OMIM:603671
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Hyperimidodipeptiduria, Concave nasal ridge, Short nose	OMIM:170100
Loeys-Dietz Syndrome 5	Arachnodactyly, Short stature, Brachycephaly, Growth delay, Talipes equinovarus, Congenital finge...	OMIM:615582
Marshall-Smith Syndrome	Short nose, Anteverted nares, Choanal atresia, Craniosynostosis	ORPHA:561
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy...	ORPHA:14
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, Nephrocalcinosis, Limb undergrowth, Joint contracture, Hypothyroidism, Short nose	OMIM:618005
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Hypospadias, Prominent nasal bridge, Proximal placement of thumb, Micrognat...	ORPHA:251071
Tetrasomy 5P	Pericallosal lipoma, Anteverted nares, Overlapping toe, Short hallux, Micrognathia, Long fingers,...	ORPHA:3309
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Talipes equinovarus, Advanced eruption of teeth, Short nose, Broad columella	OMIM:617865
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Brachycephaly, Prominent nose	OMIM:619244
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Short stature, Overlapping toe, Hearing impairment, Tapered finger, Micrognathia, Posteriorly rot...	OMIM:309590
Alpha-Mannosidosis, Infantile Form	Osteopenia, Mixed hearing impairment, Craniosynostosis, Sensorineural hearing impairment, Cranial...	ORPHA:309282
Microcephaly 26, Primary, Autosomal Dominant	Trigonocephaly, Short nose, Prominent nasal bridge, Wide nasal bridge	OMIM:619179
Otopalatodigital Syndrome Type 2	Omphalocele, Bowing of the long bones, Depressed nasal bridge, Hypospadias, Short hallux, Uretera...	ORPHA:90652
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Acrofrontofacionasal Dysostosis 1	Mixed hearing impairment, Short metacarpal, Short stature, Brachycephaly, Broad thumb, Short dist...	OMIM:201180
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Hypospadias, Postaxial ...	OMIM:612651
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Short stature, Small abnormally formed scapulae, Micr...	ORPHA:140
Ellis Van Creveld Syndrome	Hydroureter, Hypospadias, Abnormality of the kidney, Micromelia, Renal hypoplasia/aplasia, Cubitu...	ORPHA:289
Osteogenesis Imperfecta, Type Vii	Osteopenia, Death in infancy, Rhizomelia, Short stature, Micromelia, Bowing of the legs, Femoral ...	OMIM:610682
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Tapered finger, Wide nasal bridge, Hydrocele testis, Sh...	OMIM:613603
Desmosterolosis	Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Micrognathia, Abnormal circulating choles...	OMIM:602398
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Frontal bossing, Short stature, Sandal gap, Decreased fibular diameter, Postnatal gro...	OMIM:619127
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Decreased fertility, Hypoplasia of teeth, Short nose, Retrognathia	OMIM:234050
Turnpenny-Fry Syndrome	Frontal bossing, Overlapping toe, Tapered finger, Long fingers, Wide anterior fontanel, Adducted ...	OMIM:618371
Pontocerebellar Hypoplasia, Type 10	Underdeveloped nasal alae, Tapered finger, Cryptorchidism, Bulbous nose, Wide nasal bridge, Short...	OMIM:615803
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Large iliac...	OMIM:271640
Poikiloderma With Neutropenia	Frontal bossing, Depressed nasal bridge, Underdeveloped nasal alae, Recurrent sinusitis, Short no...	OMIM:604173
Slc39A8-Cdg	Osteopenia, Short stature, Craniosynostosis, Cutaneous syndactyly of toes, Disproportionate short...	ORPHA:468699
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Frontal bossing, Posteriorly rotated ears, Micrognathia, Long fingers, Sensorineural hearing impa...	OMIM:619512
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Hypospadias, Postnatal growth retardation, Short long bone, Short palm, Intraut...	OMIM:619184
Gm1-Gangliosidosis, Type Ii	Ataxia, Coxa valga, Hypoplastic vertebral bodies, Gait disturbance, Limb undergrowth	OMIM:230600
Adnp Syndrome	Broad hallux, Short stature, Sandal gap, Abnormal toe morphology, Abnormal finger morphology, 2-3...	ORPHA:404448
Kbg Syndrome	Syndactyly, Short stature, Posteriorly rotated ears, Brachycephaly, Cutaneous syndactyly, Protrud...	OMIM:148050
Skin Creases, Congenital Symmetric Circumferential, 1	Posteriorly rotated ears, Micrognathia, Long fingers, Brachycephaly, Low-set ears, Overfolded helix	OMIM:156610
Alg9-Cdg	Microretrognathia, Low-set, posteriorly rotated ears, Frontal bossing, Ulnar deviation of the han...	ORPHA:79328
Brain Malformations With Or Without Urinary Tract Defects	Inguinal hernia, Anteverted nares, Renal hypoplasia, Vesicoureteral reflux, Short nose, Hydroneph...	OMIM:613735
Chime Syndrome	Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Osteolysis, Clubbing of toes,...	ORPHA:3474
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Neurogenic bladder, Hyperthyroidism, Decreased response to growth ho...	ORPHA:488632
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Tapered finger, Long fingers, Calcaneovalgus deformity, Brachycephaly, Bilateral sensorineural he...	ORPHA:521445
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Anteverted nares, Polydactyly, Complete duplication of thum...	ORPHA:59315
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Broad nasal tip, Wide nasal bridge, Plagiocephaly, Short nose, Midface retrusion	OMIM:239300
Hunter-Macdonald Syndrome	Short stature, Metatarsus adductus, Conductive hearing impairment, Sensorineural hearing impairme...	OMIM:611962
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Depressed nasal bridge, Anteverted nares, Short nose, Micrognathia	OMIM:242860
Intellectual Developmental Disorder, X-Linked 98	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Long...	OMIM:300912
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Preaxial hand polydactyly, Short nose, Micrognathia	ORPHA:79113
Becker Nevus Syndrome	Abnormal tibia morphology, Spina bifida occulta, Micromelia	ORPHA:64755
Prader-Willi Syndrome Due To Translocation	Narrow nasal bridge, Brachydactyly, Anteverted nares, Overlapping toe, Hypogonadotropic hypogonad...	ORPHA:177907
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Coxa valga, Micrognathia, Hammertoe, Short nose	OMIM:619833
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Frontal bossing, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Plagiocepha...	OMIM:619005
Progressive Non-Infectious Anterior Vertebral Fusion	Brachycephaly, Depressed nasal bridge, Wide nasal bridge	ORPHA:2062
Meier-Gorlin Syndrome 6	Microretrognathia, Anteverted nares, Depressed nasal bridge, Sandal gap, Underdeveloped nasal ala...	OMIM:616835
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose	OMIM:616430
Cutis Laxa, Autosomal Recessive, Type Iia	Frontal bossing, Short nose, Anteverted nares, Midface retrusion	OMIM:219200
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Short stature, Overlapping toe, Posteriorly rotated ears...	OMIM:213980
Fetal Alcohol Syndrome	Short nose, Anteverted nares, Biparietal narrowing	ORPHA:1915
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Hypercalcemia, Micrognathia, Unilateral radial aplasia, Tapered finger, Par...	ORPHA:476126
9Q33.3Q34.11 Microdeletion Syndrome	Abnormal pinna morphology, Patellar aplasia, Brachycephaly, Patellar hypoplasia, Plagiocephaly, T...	ORPHA:495818
Desmosterolosis	Low-set, posteriorly rotated ears, Frontal bossing, Increased bone mineral density, Severe short ...	ORPHA:35107
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Frontal bossing, Short stature, Tapered finger, Short thumb, Cryptorchidism, Brachycephaly, Clino...	OMIM:616728
Trichohepatoneurodevelopmental Syndrome	Overlapping toe, Brachycephaly, Short foot, Plagiocephaly, Fibular bowing, Recurrent otitis media...	OMIM:618268
Johanson-Blizzard Syndrome	Hypoplasia of penis, Hypospadias, Underdeveloped nasal alae, Abnormal nostril morphology, Short n...	ORPHA:2315
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Bulbous nose, Depressed nasal bridge, Short nose	ORPHA:261144
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Severe short stature, Micromelia, Short phalanx of finger, Brachydactyly	OMIM:600092
Kleefstra Syndrome	Short stature, Brachycephaly, Talipes equinovarus, Thickened helices, Chronic otitis media, Heari...	ORPHA:261494
Osteogenesis Imperfecta	Osteopenia, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Brach...	ORPHA:666
Carpenter Syndrome 2	Preaxial polydactyly, Brachycephaly, Coxa vara, Protruding ear, Cutaneous finger syndactyly, Clin...	OMIM:614976
7Q11.23 Microduplication Syndrome	Low-set, posteriorly rotated ears, Short stature, Craniosynostosis, Micrognathia, Long fingers, A...	ORPHA:96121
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Rhizomelia, Decreased response to growth hormone stimulation test, Microg...	OMIM:614114
Congenital Myopathy 13	Short stature, Micrognathia, Brachycephaly, Bilateral talipes equinovarus, Low-set ears, Conducti...	OMIM:255995
Hydrolethalus	Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Abnormality of the sense of...	ORPHA:2189
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Disproportionate short stature, Coxa vara, Narrow pelvis bone, Abnormal epiphysis mor...	ORPHA:2637
Nablus Mask-Like Facial Syndrome	Depressed nasal bridge, Anteverted nares, Short hallux, Tapered finger, Hypoplasia of the maxilla...	OMIM:608156
Spermatogenic Failure 14	Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ...	OMIM:615842
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Increased u...	OMIM:252160
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Frontal bossing, Camptodactyly of finger, Tapered finger, Brachycephaly, Large earlobe, Hypoplasi...	ORPHA:1236
Weiss-Kruszka Syndrome	Clinodactyly of the 5th finger, Short nose, Anteverted nares, Proximal placement of thumb	OMIM:618619
Noonan Syndrome With Multiple Lentigines	Low-set, posteriorly rotated ears, Short stature, Sensorineural hearing impairment, Brachycephaly...	ORPHA:500
Hallermann-Streiff Syndrome	Frontal bossing, Proportionate short stature, Micrognathia, Small hand, Brachycephaly, Reduced bo...	ORPHA:2108
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Pterygium, Absent thumb, Absent radius, Short...	OMIM:263650
Holoprosencephaly 7	Frontal bossing, Flat occiput, Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge,...	OMIM:610828
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Depressed nasal bridge, Anteverted nares, Ureteral hypopla...	OMIM:614080
Robinow Syndrome	Syndactyly, Brachydactyly, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Micrognathi...	ORPHA:97360
Micro Syndrome	Hypoplasia of penis, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Abnormal ...	ORPHA:2510
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Craniosynostosis, Micrognathia, Upper limb undergrowth, Brachycephaly, Low-set ears, ...	ORPHA:369837
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Depressed nasal bridge, Hypospadias, Anteverted nares, Renal agenesis, Absent frontal sinuses, Ta...	OMIM:301040
Infantile Systemic Hyalinosis	Osteopenia, Severe short stature, Camptodactyly of finger, Micromelia, Osteomalacia, Osteoporosis...	ORPHA:2176
Chromosome 14Q11-Q22 Deletion Syndrome	Inguinal hernia, Depressed nasal bridge, Unilateral cryptorchidism, Micrognathia, Bilateral crypt...	OMIM:613457
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Micrognathia, Tibial bowing, Hypoplastic iliac wing, Short tibia, Small proximal tibial epiphyses...	ORPHA:96334
Peho Syndrome	Short nose, Anteverted nares, Biparietal narrowing, Midface retrusion	ORPHA:2836
Mosaic Trisomy 9	Hypoplasia of penis, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Elbow dislocation...	ORPHA:99776
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Short stature, Gait disturbance, ...	ORPHA:800
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent nasal bridge, Underdeveloped nasal alae, Aplasia of the distal phalanx of the 5th toe, ...	ORPHA:364577
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Short stature, Postnatal growth retardation, Short prox...	ORPHA:261323
White-Sutton Syndrome	Posteriorly rotated ears, Short stature, Sensorineural hearing impairment, Brachycephaly, Abnorma...	ORPHA:468678
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Micrognathia, Clinodactyly of the 5th finger, Synostosis of carpal bones, Fi...	ORPHA:1507
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Micrognathia, Short thu...	OMIM:268400
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Fetal pyelectasis, Nephrocalcinosis, Hernia...	ORPHA:264450
Intellectual Developmental Disorder, Autosomal Dominant 29	Frontal bossing, Sandal gap, Broad hallux, Brachycephaly, Cutaneous finger syndactyly, Low-set ea...	OMIM:616078
Fontaine Progeroid Syndrome	Syndactyly, Death in infancy, Turricephaly, Short stature, Posteriorly rotated ears, Craniosynost...	OMIM:612289
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Frontal bossing, Plagiocephaly, Dolichocephaly, Short nose, Midface retrusion	ORPHA:457279
X-Linked Intellectual Disability, Snyder Type	Long toe, Arachnodactyly, Short stature, Asymmetry of the ears, Cupped ear, Osteoporosis, Slender...	ORPHA:3063
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Depressed nasal bridge, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuric...	OMIM:300661
Microform Holoprosencephaly	Narrow nasal bridge, Hypoplasia of penis, Midnasal stenosis, Anteverted nares, Choanal atresia, R...	ORPHA:280200
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Depressed nasal bridge, Anteverted nares, Micrognathia, Polydactyly, Short nose	ORPHA:314655
Oculodentodigital Dysplasia	Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, Carious teeth, Clinodactyly, 4-...	OMIM:164200
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Clinodactyly of the...	ORPHA:2636
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Flat occiput, Posteriorly rotated ears, Preaxial hand po...	ORPHA:2211
Waardenburg Syndrome Type 1	Mandibular prognathia, Short nose, Wide nasal bridge, Underdeveloped nasal alae	ORPHA:894
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Prominent nasal bridge, Micrognathia, Broad nasal tip, Wide nasal bridge, Hypohidrosis, Short nose	OMIM:300749
Female Restricted Epilepsy With Intellectual Disability	Abnormal social behavior	ORPHA:101039
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Brachycephaly, Disproportionate shortening...	OMIM:263520
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Inguinal hernia, Tapered finger, Slender finger, Cryptorchidism, Functional ab...	ORPHA:2953
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Depr...	OMIM:180700
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Omphalocele, Depressed nasal bridge, Anteverted nares, Flexion contracture, Wi...	OMIM:619124
Cystinosis, Nephropathic	Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hy...	OMIM:219800
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Cryptorchidism, Talipes equino...	ORPHA:261236
Miller-Dieker Lissencephaly Syndrome	Omphalocele, Inguinal hernia, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, ...	OMIM:247200
Schisis Association	Omphalocele, Congenital diaphragmatic hernia, Renal agenesis, Micromelia	ORPHA:63862
Lamb-Shaffer Syndrome	Abnormal social behavior, Broad nasal tip	ORPHA:530983
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Short stature, Tapered finger, Brachycephaly, Plagiocephaly, Hearing impairment	OMIM:301072
Femoral-Facial Syndrome	Short fourth metatarsal, Micrognathia, Micropenis, Cryptorchidism, Humeroradial synostosis, Absen...	OMIM:134780
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Tibial bowing, Femoral bowing, Short ...	OMIM:304120
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micromelia, Micrognathia, Epispadias, Coxa vara, Short palm, Clinodactyly of...	ORPHA:3107
Omodysplasia 1	Short humerus, Depressed nasal bridge, Rhizomelia, Increased fibular diameter, Micrognathia, Cryp...	OMIM:258315
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Short nose, Micrognathia	OMIM:615851
Oculocerebral Hypopigmentation Syndrome, Cross Type	Inguinal hernia, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Arachnodactyly, Abn...	ORPHA:2719
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Decreased circulating cortisol level, Hypospadias, Increased circulating cortic...	ORPHA:90793
Monosomy 9P	Depressed nasal bridge, Anteverted nares, Choanal atresia, Brachycephaly, Trigonocephaly, Short n...	ORPHA:261112
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Contractures of the large joints, Short nose, Elevated circulating creatine kinase concentration,...	ORPHA:329178
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short stature, Flared metaphysis, Advanced ossification of carpal bones, Brachycephaly, Long fibu...	OMIM:610442
Cadds	Short nose, Increased circulating very long-chain fatty acid concentration, Micrognathia	ORPHA:369942
Orofaciodigital Syndrome Type 4	Finger syndactyly, Wide nose, Monorchism, Choanal atresia, Micromelia, Micrognathia, Camptodactyl...	ORPHA:2753
Classic Galactosemia	Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism...	ORPHA:79239
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Micrognathia, Postnatal growth retard...	ORPHA:3404
Carey-Fineman-Ziter Syndrome	Anteverted nares, Micrognathia, Glandular hypospadias, Ulnar deviation of finger, Talipes equinov...	ORPHA:1358
Jaberi-Elahi Syndrome	Hand clenching, Short nose, Depressed nasal bridge, Talipes equinovarus	OMIM:617988
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Short metacarpal, Anteverted nares, Bowed humerus, Tarsal synostosis, Broad na...	OMIM:272460
Treacher-Collins Syndrome	Frontal bossing, Micrognathia, Brachycephaly, Microtia, Abnormality of bone mineral density, Cond...	ORPHA:861
Nicolaides-Baraitser Syndrome	Narrow nasal bridge, Long toe, Short metacarpal, Hallux valgus, Anteverted nares, Brachydactyly, ...	OMIM:601358
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Inguinal hernia, Anteverted nares, Lipodystrophy, Broad nasal tip, Abnormal subcutaneous fat tiss...	ORPHA:357074
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Chromosome 16P13.3 Duplication Syndrome	Wide nose, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Micrognathia, T...	OMIM:613458
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia, Clinodactyly of the 5...	ORPHA:373
Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Micrognathia, Metaphyseal widening, Flexion contracture, Abnormal fi...	ORPHA:536471
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Renal agenesis, Rocker bottom foot, Pterygium, Micrognathia, M...	OMIM:256520
X-Linked Intellectual Disability, Armfield Type	Short stature, Micrognathia, Small hand, Brachycephaly, Short foot, Long ear, Macrotia, Midface r...	ORPHA:85276
Camptodactyly Syndrome, Guadalajara Type 3	Broad nasal tip, Small hand, Depressed nasal tip, Short foot, Wide nasal base, Retrognathia, Broa...	ORPHA:488434
Roberts-Sc Phocomelia Syndrome	Micrognathia, Brachycephaly, Tetraphocomelia, Phocomelia, Syndactyly, Hypoplasia of the ulna, Apl...	OMIM:268300
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Rocker bottom foot, Micrognathia, Long fingers, Postaxia...	ORPHA:521426
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Frontal bossing, Uplifted earlobe, Broad 2nd toe, Conductive hearing impairment, Overfolded helix...	OMIM:280000
Noonan Syndrome 3	Frontal bossing, Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosynostosis, Scaphocep...	OMIM:609942
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Epistaxis, Short distal phalanx of finger	OMIM:277450
Cornelia De Lange Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, Brachycephaly, Conductive hearing impairme...	ORPHA:199
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Bilateral ...	OMIM:612394
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short stature, Cupped ear, Brachycephaly, Contracture of the proximal interphalangeal joint of th...	OMIM:618223
Osteopetrosis With Renal Tubular Acidosis	Short stature, Micrognathia, Brachycephaly, Plagiocephaly, Osteopetrosis, Conductive hearing impa...	ORPHA:2785
Marshall-Smith Syndrome	Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Choanal stenosis, Clinodacty...	OMIM:602535
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Posteriorly rotated ears, Uplifted earlobe,...	OMIM:607932
Acrocallosal Syndrome	Mandibular prognathia, Microretrognathia, Finger syndactyly, Toe syndactyly, Duplication of thumb...	OMIM:200990
Ciliary Dyskinesia, Primary, 14	Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ...	OMIM:613807
Geleophysic Dysplasia 1	Short palm, Short stature, Camptodactyly of finger, Coxa valga, Short foot, Short long bone, Irre...	OMIM:231050
Coffin-Siris Syndrome 1	Brachycephaly, Prominent interphalangeal joints, Clinodactyly of the 5th finger, Prominent finger...	OMIM:135900
Ciliary Dyskinesia, Primary, 1	Male infertility, Nasal polyposis, Absent frontal sinuses, Absent outer dynein arms, Anosmia, Chr...	OMIM:244400
Ring Chromosome 7 Syndrome	Short stature, Prominent crus of helix, Small hand, Brachycephaly, Genu valgum, Plagiocephaly, Sh...	ORPHA:1449
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short nose, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip	OMIM:614207
Acrocephalopolydactylous Dysplasia	Omphalocele, Micromelia, Postaxial hand polydactyly, Short nose, Cystic renal dysplasia, Enlarged...	OMIM:200995
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Hydroureter, Anteverted nares, Proportionate shortening of all digits, Abnorma...	ORPHA:280633
Congenital Disorder Of Glycosylation, Type Iie	Wide nose, Neurogenic bladder, Elevated circulating creatine kinase concentration, Micrognathia, ...	OMIM:608779
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers, Congenital hypothyroidism,...	OMIM:617527
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Anteverted nares, Hypospadias, Epispadias, Abnormality of the ureter, ...	ORPHA:3339
Au-Kline Syndrome	Overlapping toe, Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal...	OMIM:616580
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hallux valgus, Renal neoplasm, Bowing of the long bones, Multiple joint contractures, Depressed n...	ORPHA:536467
Coffin-Siris Syndrome	Depressed nasal bridge, Anteverted nares, Hypospadias, Broad nasal tip, Cryptorchidism, Clinodact...	ORPHA:1465
Lathosterolosis	Toe syndactyly, Anteverted nares, Micrognathia, Postaxial hand polydactyly, Wide nasal bridge, Ho...	OMIM:607330
Peters Plus Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Toe syndactyly, Rhizomelia, Short stature, Mi...	ORPHA:709
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Depressed nasal bridge, Anteverted nares, Micrognathia, ...	OMIM:115150
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Frontal bossing, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Wide nasal bridge, Br...	OMIM:617157
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Micromelia, Micrognathia, Osteoporosis, Rickets, Prominent occiput, Lar...	ORPHA:2671
Down Syndrome	Sandal gap, Short stature, Conductive hearing impairment, Brachycephaly, Microtia, Short palm, Sh...	OMIM:190685
Duplication Of The Pituitary Gland	Brachyturricephaly, Short stature, Midface retrusion, Hearing impairment	ORPHA:314621
Chromosome 1P36 Deletion Syndrome, Distal	Brachycephaly, Conductive hearing impairment, Thickened helices, Clinodactyly of the 5th finger, ...	OMIM:607872
Fg Syndrome Type 1	Choanal atresia, Craniosynostosis, Prominent nose, Prominent occiput, Plagiocephaly, Abnormal soc...	ORPHA:93932
Dend Syndrome	Clinodactyly of the 4th finger, Short nose, Anteverted nares, Elevated hemoglobin A1c	ORPHA:79134
Arthrogryposis And Ectodermal Dysplasia	Short stature, Brachycephaly, Camptodactyly	OMIM:601701
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr...	ORPHA:90363
1P21.3 Microdeletion Syndrome	Short nose, Shyness, Broad nasal tip	ORPHA:293948
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Urinary incontinence, Long nose, Clinodactyly of the 5th finger, Pelvic kidne...	OMIM:619522
Leukocyte Adhesion Deficiency Type Ii	Recurrent urinary tract infections, Overlapping toe, Short stature, Ataxia, Impaired tandem gait,...	ORPHA:99843
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Attached earlobe, Mixed hearing impairment, Craniosynostosis, U...	ORPHA:1299
Renpenning Syndrome 1	Short stature, Micrognathia, Cupped ear, Brachycephaly, Protruding ear, Death in childhood, Synos...	OMIM:309500
Cranioectodermal Dysplasia 2	Syndactyly, Frontal bossing, Cloverleaf skull, Rhizomelia, Short stature, Craniosynostosis, Micro...	OMIM:613610
Trisomy 18	Microretrognathia, Omphalocele, Choanal atresia, Abnormality of the upper urinary tract, Camptoda...	ORPHA:3380
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Frontal bossing, Brachydactyly, Mesoaxial foot polydactyly, Broad hallux, Overlapping toe, Duplic...	OMIM:612474
Lathosterolosis	Hypoplasia of penis, Toe syndactyly, Anteverted nares, Micrognathia, Bulbous nose, Postaxial hand...	ORPHA:46059
Kinsship Syndrome	Short stature, Coxa valga, Micrognathia, Hip dislocation, Renal hypoplasia, Fibular hypoplasia, H...	OMIM:619297
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Hyp...	OMIM:269150
Primary Ciliary Dyskinesia	Male infertility, Nasal polyposis, Female infertility, Clubbing, Nasal congestion, Chronic rhinit...	ORPHA:244
Elsahy-Waters Syndrome	Wide nose, Anteverted nares, Bifid nasal tip, Bulbous nose, Wide nasal bridge, Brachycephaly, Mid...	OMIM:211380
Lethal Congenital Contracture Syndrome 10	Micrognathia, Femoral bowing, Short long bone, Talipes equinovarus, Overlapping fingers, Intraute...	OMIM:617022
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Finger syndactyly, Multicystic ki...	ORPHA:818
Stüve-Wiedemann Syndrome	Bowing of the long bones, Short stature, Camptodactyly of finger, Micromelia, Metaphyseal widenin...	ORPHA:3206
Pallister-Hall Syndrome	Ectopic kidney, Depressed nasal ridge, Gonadotropin deficiency, Micropenis, Microretrognathia, Me...	ORPHA:672
Gaucher Disease, Perinatal Lethal	Depressed nasal bridge, Anteverted nares, Micrognathia, Short nose, Retrognathia	OMIM:608013
Jacobsen Syndrome	Broad hallux phalanx, Multicystic kidney dysplasia, Finger syndactyly, Anteverted nares, Toe synd...	ORPHA:2308
3Q29 Microdeletion Syndrome	Hypospadias, Prominent nasal bridge, Tapered finger, Horseshoe kidney, Clinodactyly of the 5th fi...	ORPHA:65286
Helsmoortel-Van Der Aa Syndrome	Prominent fingertip pads, Anteverted nares, Sandal gap, Broad hallux, Broad nasal tip, Carious te...	OMIM:615873
Ogden Syndrome	Micrognathia, Clinodactyly of the 5th finger, Microretrognathia, Global glomerulosclerosis, Depre...	OMIM:300855
Deeah Syndrome	Overlapping fingers, Decreased response to growth hormone stimulation test, Cryptorchidism, Hypoh...	OMIM:619004
Doors Syndrome	11 pairs of ribs, Frontal bossing, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagittal c...	ORPHA:79500
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Postaxial polydactyly, Micrognathia, Clinodactyly, Renal hypoplasia, Renal ...	OMIM:618460
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Anteverted nares, Prominent nose, Broad nasal tip, Bulbous nose, Wide nasal bridge, Brachycephaly...	OMIM:619950
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di...	OMIM:613406
Wiedemann-Steiner Syndrome	Aplasia/Hypoplasia of the ribs, Rhizomelia, Decreased response to growth hormone stimulation test...	ORPHA:319182
Jacobsen Syndrome	Depressed nasal bridge, Hypospadias, Anteverted nares, Micrognathia, Missing ribs, Cryptorchidism...	OMIM:147791
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Frontal bossing, Broad nasal tip, Scaphocephaly, Brachycephaly, Wide nasal bridge, Posterior plag...	OMIM:620330
Trisomy 10P	Thumb contracture, Depressed nasal bridge, Anteverted nares, Micrognathia, Abnormality of the nos...	ORPHA:171929
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Short long bone, Disproportionate shor...	OMIM:619479
C Syndrome	Omphalocele, Multicystic kidney dysplasia, Toe syndactyly, Depressed nasal bridge, Anteverted nar...	ORPHA:1308
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Short stature, Hypospadias, Unilateral renal agene...	ORPHA:464306
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Tapered toe, Shoulder flexion contracture, Limb joint contracture, Micrognathia,...	OMIM:620369
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Long nose, Short nose, Depressed nasal bridge	OMIM:618590
1P36 Deletion Syndrome	11 pairs of ribs, Low-set, posteriorly rotated ears, Frontal bossing, Short stature, Camptodactyl...	ORPHA:1606
Chops Syndrome	Anteverted nares, Cryptorchidism, Horseshoe kidney, Vesicoureteral reflux, Short nose, Brachydactyly	OMIM:616368
Gapo Syndrome	Frontal bossing, Depressed nasal bridge, Anteverted nares, Plagiocephaly, Short nose	OMIM:230740
Myhre Syndrome	Vertebral fusion, Overlapping toe, Short stature, Ataxia, Cryptorchidism, Short toe, 2-3 toe synd...	OMIM:139210
Bannayan-Riley-Ruvalcaba Syndrome	Wide nose, Anteverted nares, Hashimoto thyroiditis, Micrognathia, Lipoma, Short nose, Broad thumb	ORPHA:109
Cardiofaciocutaneous Syndrome	Depressed nasal bridge, Anteverted nares, Abnormal morphology of ulna, Cryptorchidism, Genu valgu...	ORPHA:1340
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Abnormal renal morphology, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Recurrent urinary tract infections, Inguinal hernia, Hypospadias, Prominent nasal ...	ORPHA:268261
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:606721
Trichothiodystrophy 1, Photosensitive	Short nose, Flexion contracture, Hypogonadism, Absence of subcutaneous fat	OMIM:601675
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Low-set, posteriorly rotated ears, Osteopenia, Overlapping toe, Short stature, Pos...	ORPHA:480880
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Poorly ossified ver...	ORPHA:3003
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Male infertility, Renal agenesis, Hypergonadotropic hypogonadism, E...	OMIM:227650
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Anhidrosis, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Hypohid...	OMIM:305100
Specc1L-Related Hypertelorism Syndrome	Brachycephaly, Short nose, Prominent nasal bridge, Wide nasal bridge	ORPHA:1519
Degcags Syndrome	Prominent nose, Micrognathia, Bilateral renal hypoplasia, Syndactyly, Anteverted nares, Hypospadi...	OMIM:619488
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Short nose	ORPHA:2282
8Q24.3 Microdeletion Syndrome	Congenital hip dislocation, Micromelia, Bilateral renal hypoplasia, Finger clinodactyly, Vesicour...	ORPHA:508488
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Dihydropyrimidine Dehydrogenase Deficiency	Inability to walk, Epiphyseal dysplasia, Uraciluria, Micromelia	ORPHA:1675
Menke-Hennekam Syndrome 1	Narrow nasal bridge, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Broad hallux, Und...	OMIM:618332
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Frontal bossing, Short femur, Short stature, Small earlobe, Posteriorly ...	OMIM:264090
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Horseshoe kidney, Aplasia of th...	OMIM:617088
Arterial Tortuosity Syndrome	Inguinal hernia, Arachnodactyly, Rocker bottom foot, Femoral hernia, Coxa valga, Avascular necros...	ORPHA:3342
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Short ribs, Polycysti...	OMIM:616546
Schinzel-Giedion Syndrome	Micrognathia, Renal cyst, Tibial bowing, Choanal stenosis, Micropenis, Streak ovary, Hypospadias,...	ORPHA:798
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Anteverted nares, Choanal atresia, Broad hallux, Tapered finger, 1-2 toe syndactyly, Clinodactyly...	OMIM:301044
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Frontal bossing, Cloverleaf skull, Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Cranios...	OMIM:201750
White-Kernohan Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Short nose, Midface retrusion	OMIM:619426
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Arachnodactyly, Posteriorly rotated ears, Hearing impairment, Brachycephaly, P...	OMIM:601776
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Prominent nasal tip, Short nose, Brachyturricephaly	ORPHA:522077
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Wide nose, Short metacarpal, Ante...	OMIM:303600
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Hypogonadotropic hypogonadism, Short middle phalanx of finger, Clinodacty...	OMIM:301030
Penile Agenesis	Urethral atresia, male, Depressed nasal bridge, Hydroureter, Cryptorchidism, Fetal pyelectasis, B...	ORPHA:49
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Decreased testicular size, Flexion contracture, Renal hypoplasia, Genu valgum, Micropenis, Hypopl...	OMIM:619321
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Syndactyly, Aplasia of the nasal bone, Streak ovary, Hypospadias, Micrognathia, Cryp...	OMIM:618820
Geleophysic Dysplasia 2	Short foot, Short nose, Short palm	OMIM:614185
Primrose Syndrome	Calcification of the auricular cartilage, Short stature, Hearing impairment, Metatarsus adductus,...	OMIM:259050
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Renal cyst, Short palm, Depressed nasal bridge, Anteverted nares...	OMIM:312870
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Overlapping toe, Arachnodactyly, Micrognathia, Postnatal growth retardation, Contracture of the d...	ORPHA:83617
Common Variable Immunodeficiency	Chronic otitis media, Brachycephaly, Otitis media	ORPHA:1572
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Sensorineural hearing impairment, Brachycephaly, Growth delay, Delayed puberty	ORPHA:2072
46,Xy Partial Gonadal Dysgenesis	Male infertility, Hypoplasia of penis, Streak ovary, Hypospadias, Nephroblastoma, Hypergonadotrop...	ORPHA:251510
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Micromelia, Micrognathia, Preaxial hand polydactyly,...	ORPHA:93271
Toriello-Carey Syndrome	Micrognathia, Cryptorchidism, Clinodactyly, Short nose, Brachydactyly	ORPHA:3338
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Anteverted nares, Hypospadias, Decreased response to growth hormone stimulation test, Micrognathi...	ORPHA:444077
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Peroxisome Biogenesis Disorder 4B	Short nose, Adrenal insufficiency, Ureterocele	OMIM:614863
45,X/46,Xy Mixed Gonadal Dysgenesis	Hallux valgus, Male infertility, Streak ovary, Hypospadias, Abnormality of the kidney, Unilateral...	ORPHA:1772
Partial Androgen Insensitivity Syndrome	Male infertility, Hypospadias, Elevated circulating luteinizing hormone level, Bilateral cryptorc...	ORPHA:90797
Ctcf-Related Neurodevelopmental Disorder	Broad hallux phalanx, Anteverted nares, Sandal gap, Broad nasal tip, Cryptorchidism, 2-3 toe synd...	ORPHA:363611
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Micrognathia, Abnormal t...	ORPHA:904
Zttk Syndrome	Depressed nasal bridge, Polyuria, Unilateral renal agenesis, Flexion contracture, Small hand, Wid...	OMIM:617140
Williams-Beuren Syndrome	Flexion contracture, Nephrocalcinosis, Clinodactyly of the 5th finger, Vesicoureteral reflux, Mic...	OMIM:194050
Monosomy 9Q22.3	Umbilical hernia, Short nose, Polydactyly, Nephroblastoma	ORPHA:77301
Cystic Fibrosis	Male infertility, Nasal polyposis, Hypercalciuria, Clubbing of fingers, Steatorrhea, Pancreatitis...	OMIM:219700
Mend Syndrome	Abnormal nasal bridge morphology, Abnormal social behavior, Prominent nasal bridge, Midface retru...	ORPHA:401973
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Neonatal death, Brachycephaly, Low-set ears, Micrognathia	OMIM:265380
Childhood Absence Epilepsy	Abnormal social behavior	ORPHA:64280
Stickler Syndrome	Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morphology, Micrognathia, Hypopl...	ORPHA:828
Complete Androgen Insensitivity Syndrome	Male infertility, Elevated circulating luteinizing hormone level, Testicular neoplasm, Bilateral ...	ORPHA:99429
Okamoto Syndrome	Ureteropelvic junction obstruction, Omphalocele, Depressed nasal bridge, Anteverted nares, Urinar...	ORPHA:2729
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Anteverted nares, Bulbous nose, Wide nasal bridge, Depressed nasal tip, Plagiocephaly, Impaired s...	OMIM:619475
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, P...	OMIM:619503
Cog1-Cdg	Rhizomelia, Coxa valga, Postnatal growth retardation, Micrognathia, Flat acetabular roof, Short l...	ORPHA:263508
Bloom Syndrome	Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Micrognath...	ORPHA:125
Koolen-De Vries Syndrome Due To A Point Mutation	Prominent nasal bridge, Craniosynostosis, Underdeveloped nasal alae, Bulbous nose, Wide nasal bri...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Prominent nasal bridge, Craniosynostosis, Underdeveloped nasal alae, Bulbous nose, Wide nasal bri...	ORPHA:363958
Viss Syndrome	Microretrognathia, Long toe, Exostosis of the external auditory canal, Frontal bossing, Short sta...	OMIM:619472
Aspartylglucosaminuria	Thickened calvaria, Depressed nasal bridge, Anteverted nares, Brachycephaly	OMIM:208400
Early-Onset Autosomal Dominant Alzheimer Disease	Abnormal social behavior	ORPHA:1020
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Bulbous nose, Wide nose, Abnormal social behavior, Anteverted nares	ORPHA:314647
Aspartylglucosaminuria	Inguinal hernia, Aspartylglucosaminuria, Abnormal morphology of ulna, Wide nasal bridge, Macroorc...	ORPHA:93
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Renal cyst, Camptodactyly of ...	OMIM:601803
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Metachromatic Leukodystrophy, Late Infantile Form	Abnormal social behavior	ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form	Abnormal social behavior	ORPHA:309263
Metachromatic Leukodystrophy, Adult Form	Abnormal social behavior	ORPHA:309271
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Depressed nasal bridge, Arachnodactyly, Bilateral renal dysplasia, Unilateral renal agenesis, Abs...	ORPHA:500150
Noonan Syndrome 1	Male infertility, Micrognathia, Cryptorchidism, Dental malocclusion, Hypogonadism, Radial deviati...	OMIM:163950
Tuberous Sclerosis Complex	Abnormal social behavior	ORPHA:805
Niemann-Pick Disease Type C	Abnormal social behavior	ORPHA:646

Histopathology

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

There is no histopathology data for Gusb

IMPC related publications

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

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

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MGI Allele	Allele Type	Produced
Gusb^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Gusb^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Gusb^em1(IMPC)Bay	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Gusb MGI:95872

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Eye Morphology

Eye Morphology

Eye Morphology

MicroCT E18.5

Human diseases caused by Gusb mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data