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Gene: Npr2 MGI:97372

Gene Summary

Name:

natriuretic peptide receptor 2

Synonyms:

cn, guanylyl cyclase-B, pwe

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	Allele	Zyg	Life Stage	P Value
preweaning lethality, incomplete penetrance	Npr2^em1(IMPC)H	HOM	Early adult	0.00
abnormal hindlimb morphology	Npr2^em1(IMPC)H	HOM	Early adult	3.97×10^-13
increased freezing behavior	Npr2^em1(IMPC)H	HOM	Early adult	1.73×10^-09
abnormal tail length	Npr2^em1(IMPC)H	HOM	Early adult	1.31×10^-10
trunk curl	Npr2^em1(IMPC)H	HOM	Early adult	1.18×10^-09
decreased circulating alkaline phosphatase level	Npr2^em1(IMPC)H	HOM	Early adult	3.56×10^-07
tremors	Npr2^em1(IMPC)H	HOM	Early adult	9.76×10^-09
abnormal snout morphology	Npr2^em1(IMPC)H	HOM	Early adult	6.34×10^-07
abnormal snout morphology	Npr2^em1(IMPC)H	HET	Early adult	2.01×10^-05
impaired cued conditioning behavior	Npr2^em1(IMPC)H	HOM	Early adult	3.26×10^-05
increased grip strength	Npr2^em1(IMPC)H	HET	Early adult	7.41×10^-06
abnormal forelimb morphology	Npr2^em1(IMPC)H	HOM	Early adult	3.97×10^-13
abnormal head size	Npr2^em1(IMPC)H	HOM	Early adult	3.87×10^-08
abnormal head morphology	Npr2^em1(IMPC)H	HOM	Early adult	5.95×10^-12
abnormal gait	Npr2^em1(IMPC)H	HOM	Early adult	9.20×10^-07
abnormal locomotor behavior	Npr2^em1(IMPC)H	HOM	Early adult	1.03×10^-10
abnormal tail morphology	Npr2^em1(IMPC)H	HOM	Early adult	3.97×10^-13
limb grasping	Npr2^em1(IMPC)H	HOM	Early adult	1.47×10^-09
abnormal tail morphology	Npr2^em1(IMPC)H	HET	Early adult	1.51×10^-08

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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.

MicroCT E18.5

Embryo reconstruction

4 Images

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Human diseases caused by Npr2 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 Npr2 (4 diseases)
Human diseases predicted to be associated with Npr2 (2795 diseases)

The table below shows human diseases associated to Npr2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Acromesomelic Dysplasia, Maroteaux Type	Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,...	ORPHA:40
Acromesomelic Dysplasia 1	Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Sh...	OMIM:602875
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Scoliosis, Epiphyseal dysplasia, Arachnodactyly, Long hallux, Broad hallux, Fifth fin...	OMIM:615923
Short Stature With Nonspecific Skeletal Abnormalities	Proportionate short stature	OMIM:616255

The table below shows human diseases predicted to be associated to Npr2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Schneckenbecken Dysplasia	Disproportionate short-limb short stature, Snail-like ilia, Short long bone, Flat acetabular roof...	OMIM:269250
Acrodysostosis	Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Hypogonadism,...	ORPHA:950
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Wide distal femoral metaphysis, Hypoplasia of the femoral head, Short humerus, Short ...	OMIM:619598
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Acrocapitofemoral Dysplasia	Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Hy...	OMIM:607778
Rhizomelic Chondrodysplasia Punctata, Type 3	Short femur, Short humerus, Rhizomelia, Epiphyseal stippling	OMIM:600121
Omodysplasia 2	Dislocated radial head, Bifid nasal tip, Dyspareunia, Broad femoral neck, Short humerus, Long phi...	OMIM:164745
Brachydactyly, Type C	Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi...	OMIM:113100
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Limited elbow extension, Disproportionate short stature, Type E brachydac...	ORPHA:1856
Rhizomelic Dysplasia, Patterson-Lowry Type	Short nose, Genu valgum, Rhizomelia, Wide nose, Abnormal form of the vertebral bodies, Mandibular...	ORPHA:2831
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Depressed nasa...	OMIM:118651
Cleidocranial Dysplasia	Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal epiphysis morphology, Abnormal me...	ORPHA:1452
Atelosteogenesis, Type I	Disproportionate short-limb short stature, Tibial bowing, Clubbing, Short metacarpal, Short humer...	OMIM:108720
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short long bone, Short ribs, Hypoplastic ischia, Dumbbell-shaped lo...	OMIM:228520
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Retrognathia, Hypoplastic iliac wing, Tibial bowing, Microdontia, Microcephaly, Short distal phal...	OMIM:210720
Platyspondylic Dysplasia, Torrance Type	Abdominal distention, Abnormal carpal morphology, Platyspondyly, Narrow chest, Disproportionate s...	ORPHA:85166
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Disproportionate short-limb short statur...	ORPHA:240
3M Syndrome	Rocker bottom foot, Hyperlordosis, Enlarged thorax, Everted lower lip vermilion, Kyphosis, Hypopl...	ORPHA:2616
Ulnar Hemimelia	Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim...	ORPHA:93320
Spondylometaphyseal Dysplasia, Type A4	Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg...	OMIM:609052
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Narrow greater sciatic notch, Hypoplasia of the ulna, Rhizomelia, Flared metaphysis, Dislocated r...	OMIM:602471
Smith-Mccort Dysplasia 1	Short metacarpal, Kyphosis, Iliac crest serration, Microcephaly, Hypoplastic facial bones, Metaph...	OMIM:607326
Autosomal Dominant Omodysplasia	Short nose, Ambiguous genitalia, Rhizomelia, Hypoplasia of penis, Elbow dislocation, Bifid scrotu...	ORPHA:93328
Achondrogenesis, Type Ia	Hypoplastic sacrum, Turricephaly, Broad clavicles, Abnormal hand bone ossification, Short ribs, D...	OMIM:200600
Maxillonasal Dysplasia, Binder Type	Short nose, Patchy distortion of vertebrae, Vertebral clefting, Short distal phalanx of finger, D...	OMIM:155050
Thanatophoric Dysplasia, Type I	Disproportionate short-limb short stature, Short greater sciatic notch, Wide-cupped costochondral...	OMIM:187600
Rhizomelic Chondrodysplasia Punctata, Type 5	Pes cavus, Swan neck-like deformities of the fingers, Metaphyseal cupping, Narrow iliac wing, Sin...	OMIM:616716
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Kyphoscoliosis, Dislocated radial head, Short metacarpal, Broad femoral neck, Bifid uvula, Flatte...	OMIM:612350
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Osteoglophonic Dysplasia	Eruption failure, Short metacarpal, Broad metatarsal, Pectus excavatum, Broad thumb, Severe short...	OMIM:166250
Episodic Ataxia, Type 1	Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Elevated circulating creati...	OMIM:160120
Rhizomelic Chondrodysplasia Punctata, Type 2	Microcephaly, Short humerus, Knee contracture, Rhizomelia, Anteverted nares, Scoliosis, Short sta...	OMIM:222765
Spondyloperipheral Dysplasia	Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ...	OMIM:271700
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Kyphoscoliosis, Delayed pubic bone ossification, Proximal placement of thumb, Hypoplastic iliac w...	OMIM:613330
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Narrow chest, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Frontal bossing,...	ORPHA:440354
Thanatophoric Dysplasia, Type Ii	Platyspondyly, Narrow chest, Flared metaphysis, Short greater sciatic notch, Cloverleaf skull, Wi...	OMIM:187601
Brachydactyly Type A1	Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall...	ORPHA:93388
X-Linked Intellectual Disability, Cabezas Type	Sandal gap, Cachexia, Kyphosis, Microcephaly, Wide mouth, Hypogonadism, Short philtrum, Scoliosis...	ORPHA:85293
Paramyotonia Congenita Of Von Eulenburg	Handgrip myotonia, Facial muscle hypertrophy, Percussion myotonia, Myotonia of the upper limb, Co...	ORPHA:684
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Retrognathia, Talipes, Radi...	OMIM:227270
Dystonia 31	Abnormal posturing, Difficulty walking, Leg dystonia, Writer's cramp, Depression, Craniofacial dy...	OMIM:619565
Intellectual Disability, Buenos-Aires Type	Reduced bone mineral density, Clinodactyly of the 5th finger, Abnormal calvaria morphology, Pectu...	ORPHA:3079
Metaphyseal Anadysplasia 2	Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg...	OMIM:613073
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M...	OMIM:249700
Three M Syndrome 2	Pectus carinatum, Relative macrocephaly, Hyperlordosis, Prominent calcaneus, Severe short stature...	OMIM:612921
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Turricephaly, Clinodactyly of the 5th finger, Abnormality of the elbow, Finger syndactyly, Abnorm...	ORPHA:1005
Rubinstein-Taybi Syndrome 2	Narrow palate, Short 5th toe, Retrognathia, Short first metatarsal, Increased overbite, Low hangi...	OMIM:613684
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Flat occiput, Wide nose, Thick nasal alae, Everted lower lip vermilion, D...	ORPHA:357175
Leri-Weill Dyschondrosteosis	Limited elbow movement, Disproportionate short-limb short stature, Tibial bowing, Increased carry...	OMIM:127300
Spondylometaphyseal Dysplasia, Corner Fracture Type	Corner fracture of metaphysis, Pectus carinatum, Coxa vara, Hypoplasia of the odontoid process, S...	OMIM:184255
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Flat occiput, Wide nose, Thick nasal alae, Everted lower lip vermilion, D...	OMIM:615162
Mental Retardation Syndrome, Mietens-Weber Type	Dislocated radial head, Severe postnatal growth retardation, Elbow flexion contracture, Forearm u...	OMIM:249600
Camptodactyly Syndrome, Guadalajara Type 1	Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum, Microcephaly, Short di...	ORPHA:1327
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Mi...	OMIM:147891
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormality of the hand, Abnormal foot morpholo...	ORPHA:75508
Pelviscapular Dysplasia	Macrocephaly, Elbow flexion contracture, Abnormality of the joint spaces of the elbow, Hypoplasti...	ORPHA:93333
Alpha-Mannosidosis	Narrow palate, Generalized abnormality of skin, Widely spaced teeth, Macrocephaly, Hepatomegaly, ...	ORPHA:61
Acrocephalopolydactyly	Short nose, Genu recurvatum, Short long bone, Depressed nasal ridge, Limb undergrowth, Hepatosple...	ORPHA:221054
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Acromesomelic Dysplasia, Maroteaux Type	Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,...	ORPHA:40
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Narrow palate, Abnormal hip bone morphology, Abnormal calvaria morphology, Finger syndactyly, Sco...	ORPHA:1323
Atelosteogenesis Type Ii	Wide nasal base, Sandal gap, Bilateral cleft palate, Short ribs, Short metacarpal, Short lower li...	ORPHA:56304
Mucolipidosis Ii Alpha/Beta	Short long bone, Flat acetabular roof, Pectus excavatum, Flared iliac wing, Trigonocephaly, Wide ...	OMIM:252500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Carpal bone hypoplasia, Platyspondyly, Dislocated radial head, Delayed os...	OMIM:618395
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	ORPHA:2019
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse...	ORPHA:1972
Cleidorhizomelic Syndrome	Diaphyseal undertubulation, Bilateral single transverse palmar creases, Abnormal clavicle morphol...	ORPHA:1453
Van Den Ende-Gupta Syndrome	Narrow foot, Dislocated radial head, Dental crowding, Femoral bowing, Short ribs, Everted lower l...	OMIM:600920
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l...	ORPHA:2256
Cleidocranial Dysplasia 1	Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ...	OMIM:119600
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short long bone, Flat acetabular roof, Short ribs, Microdontia, Mesomelia, Syndactyly, Short dist...	OMIM:614091
Hall-Riggs Syndrome	Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Platysp...	OMIM:234250
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,...	OMIM:601438
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Hypoplastic iliac wing, Mandibular prognathia, Scoliosis, Abnormality of the dentition, Kyphosis,...	ORPHA:1858
Metatropic Dysplasia	Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Disproportionate short-limb...	OMIM:156530
Femoral-Facial Syndrome	Long philtrum, Abnormal fibula morphology, Scoliosis, Short stature, Aplasia/Hypoplasia of the ti...	ORPHA:1988
Seckel Syndrome 1	Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Dental cr...	OMIM:210600
Lig4 Syndrome	Brachycephaly, Thin vermilion border, Acute leukemia, Hepatomegaly, Clinodactyly of the 5th finge...	ORPHA:99812
Tetraploidy	Radial club hand, Short philtrum, Biparietal narrowing, Microcephaly, Micrognathia, Cleft palate,...	ORPHA:3305
Pycnodysostosis	Disproportionate short-limb short stature, Hypoplastic iliac wing, Hyperlordosis, Kyphosis, Acrom...	ORPHA:763
Muenke Syndrome	Brachycephaly, Capitate-hamate fusion, Plagiocephaly, Radial deviation of finger, Macrocephaly, C...	OMIM:602849
Filippi Syndrome	Postnatal growth retardation, Thin vermilion border, Finger clinodactyly, Short philtrum, Serrate...	OMIM:272440
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Disproportionate short-...	ORPHA:174
Hypochondroplasia	Limited elbow extension, Macrocephaly, Disproportionate short-limb short stature, Flared metaphys...	OMIM:146000
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Fibular hypoplasia, Supernumerary ribs, Absent thumb, Aplasia/Hypoplasia ...	OMIM:612447
Multiple Synostoses Syndrome 1	Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec...	OMIM:186500
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Short long bone, Flat acetabular roof, Short ribs, Hypoplastic ischia, Dumbbell-shaped long bone,...	OMIM:151210
Acro-Renal-Mandibular Syndrome	Pectus carinatum, Kyphosis, Split foot, Intrauterine growth retardation, Hip dislocation, Hypopla...	ORPHA:958
17Q21.31 Microduplication Syndrome	Delayed puberty, Short nose, Clinodactyly of the 5th finger, Short philtrum, Sandal gap, Antevert...	ORPHA:217340
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short ribs, Decreased skull ossification, Microcephaly, Unilateral cleft lip, Thoracic hypoplasia...	OMIM:616897
Pseudoachondroplasia	Disproportionate short-limb short stature, Abnormal form of the vertebral bodies, Short long bone...	ORPHA:750
Cenani-Lenz Syndrome	Abnormal form of the vertebral bodies, Oligodactyly, Hip dislocation, Hypoplasia of the ulna, Hyp...	ORPHA:3258
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Anteverted nares, Mandibular prognathia, Relative macrocephaly, High palate, Long fingers, Dental...	OMIM:618292
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Microcephaly, Short...	ORPHA:2491
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hy...	ORPHA:96334
Achondrogenesis Type 1A	Abdominal distention, Short nose, Macrocephaly, Narrow chest, Short thorax, Anteverted nares, Abn...	ORPHA:93299
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular roof, Short metac...	OMIM:617102
Image Syndrome	Depressed nasal bridge, Metaphyseal dysplasia, Hypogonadism, Micromelia	ORPHA:85173
Campomelic Dysplasia	Kyphoscoliosis, Disproportionate short-limb short stature, Absent sternal ossification, Dislocate...	OMIM:114290
Achondroplasia	Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Thoracic hypoplasia, Genu...	OMIM:100800
Fibrochondrogenesis 2	Short nose, Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Anteverted nares, Sh...	OMIM:614524
Ovarian Dysgenesis 2	Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon...	OMIM:300510
Acromicric Dysplasia	Long philtrum, Short nose, Abnormal femur morphology, Thick lower lip vermilion, Anteverted nares...	ORPHA:969
Sandhoff Disease, Adult Form	Fasciculations, Spasticity, Tremor, Elevated circulating creatine kinase concentration, Gait atax...	ORPHA:309169
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Talipes equinovarus, Growth delay, Short stature, Malar flattening, Brachydactyly, Short 5th fing...	ORPHA:52056
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metaphysis morphology, Thin vermilion border, Short nose, Reduced bone mineral density, ...	ORPHA:2370
Cousin Syndrome	Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, An...	OMIM:260660
Leukoencephalopathy, Brain Calcifications, And Cysts	Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata...	OMIM:614561
Intellectual Developmental Disorder, X-Linked 91	Short nose, Cubitus valgus, High palate, Short foot, Obesity, Short 5th finger, Clinodactyly, Mac...	OMIM:300577
8P23.1 Microdeletion Syndrome	Thin vermilion border, Short nose, Proximal placement of thumb, Enlarged thorax, High palate, Hyp...	ORPHA:251071
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Short distal phalanx of toe, Intrauterine growth r...	ORPHA:1292
Fibular Hemimelia	Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Oligodacty...	ORPHA:93323
Van Bogaert-Hozay Syndrome	Osteolytic defects of the phalanges of the hand, Tooth malposition, Distal ulnar hypoplasia, Micr...	OMIM:277150
Acrodysostosis 1 With Or Without Hormone Resistance	Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Di...	OMIM:101800
Mietens Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Short nose, Clinoda...	ORPHA:2557
Odontochondrodysplasia 1	Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ...	OMIM:184260
Atypical Pantothenate Kinase-Associated Neurodegeneration	Chorea, Limb dystonia, Cognitive impairment, Impulsivity, Rigidity, Dysphagia, Clumsiness, Irrita...	ORPHA:216873
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger symphalangism, Macrocephaly, Reduced proximal interphalangeal joint space, Short distal ph...	ORPHA:3246
Brachydactyly, Type A1	Distal symphalangism of hands, Short metacarpal, Slender metacarpals, Short distal phalanx of fin...	OMIM:112500
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone...	ORPHA:239
Acrootoocular Syndrome	Kyphoscoliosis, Wide nasal base, Sandal gap, Short metacarpal, Small thenar eminence, Pectus exca...	ORPHA:2980
Brachydactyly, Type A3	Clinodactyly of the 5th finger, Rhomboid or triangular shaped 5th finger middle phalanx, Short mi...	OMIM:112700
Mcdonough Syndrome	Bilateral single transverse palmar creases, Abnormal palate morphology, Short philtrum, Cachexia,...	ORPHA:2471
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology, Growth delay...	OMIM:259270
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Thin vermilion border, Short philtrum, Flared metaphysis, Premature loss of teeth, Short middle p...	OMIM:156510
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Butterfly vertebrae, Rhizomelia, Sandal gap, Short philtrum, Wide nose,...	OMIM:607143
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, Arthralgia of the hip, Cox...	OMIM:609324
Thiemann Disease, Familial Form	Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:3314
Fibrochondrogenesis	Abnormal metaphysis morphology, Plagiocephaly, Abnormal diaphysis morphology, Bell-shaped thorax,...	ORPHA:2021
Mulibrey Nanism	Congestive heart failure, Hepatomegaly, Wide nose, Absent frontal sinuses, Dental crowding, Hypod...	OMIM:253250
Orofaciodigital Syndrome Type 6	Mesoaxial polydactyly, Abnormal oral frenulum morphology, Syndactyly, Tongue nodules, Biparietal ...	ORPHA:2754
Bullous Dystrophy, Hereditary Macular Type	Short finger, Microcephaly, Severe short stature, Acrocyanosis, Tapered finger	OMIM:302000
Visceral Myopathy 2	Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ...	OMIM:619350
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Postnatal growth retardation, Short first metatarsal, Ulnar bowing, Epiph...	OMIM:619135
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Scoliosis, Hemivertebrae...	OMIM:212780
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin...	ORPHA:93405
Dysostosis Multiplex, Ain-Naz Type	Elongated femoral neck, Abdominal distention, Glenoid fossa hypoplasia, Hypoplastic iliac wing, S...	OMIM:619345
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Wide nasal base, Femoral bowing, Short long bone, Clubbing, Tibial bo...	OMIM:601559
Atelosteogenesis, Type Ii	Sandal gap, Bifid humerus, Short greater sciatic notch, Flat acetabular roof, Dumbbell-shaped fem...	OMIM:256050
Epiphyseal Dysplasia, Multiple, 5	Genu valgum, Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Delayed ossification of...	OMIM:607078
Eiken Syndrome	Abnormal bone ossification, High iliac wing, Absence of the sacrum, Metaphyseal irregularity, Fib...	ORPHA:79106
Achondroplasia	Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Kyphosis, Trident hand, Hypo...	ORPHA:15
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Inappropriate behavior, Memory impairment, Depression, Chorea, Tremor, Upper motor neuron dysfunc...	ORPHA:401901
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Macrocephaly, Excessive wrinkled skin, Narrow chest, Short greate...	ORPHA:1860
Craniosynostosis 3	Right unicoronal synostosis, Dental malocclusion, Bicoronal synostosis, Single transverse palmar ...	OMIM:615314
Desbuquois Dysplasia 1	Sandal gap, Disproportionate short-limb short stature, Hyperlordosis, Flat acetabular roof, Kypho...	OMIM:251450
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Reduced bone mineral density, Short long bone, Flat acetabular roof, Abno...	ORPHA:94068
Satoyoshi Syndrome	Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal hip bone morphology, Hypoplas...	ORPHA:3130
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal palate morphology, Abnormal shoulder morphology, Long thorax, Tooth agenesis, Micrognath...	ORPHA:1277
Epiphyseal Dysplasia, Multiple, 4	Flat capital femoral epiphysis, Talipes equinovarus, Scoliosis, Short metacarpal, Hypoplasia of t...	OMIM:226900
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Hypoplasia of the ulna, Abnormal nostril morphology, Abnormality of the wrist, Radial club hand, ...	ORPHA:2878
Tetrasomy X	Premature ovarian insufficiency, Clinodactyly of the 5th finger, Abnormality of the dentition, Br...	ORPHA:9
Premature Ovarian Failure 2B	Delayed puberty, Premature ovarian insufficiency, Abnormality of the dentition, Female infertilit...	OMIM:300604
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Bilateral single transverse palmar creases, Abnormal finger morphology, Hyperlordosis, Large ilia...	ORPHA:2511
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, Br...	OMIM:617405
Robinow Syndrome, Autosomal Dominant 2	Kyphoscoliosis, Dental crowding, Broad thumb, Mesomelia, Wide mouth, Long philtrum, Short distal ...	OMIM:616331
Orofaciodigital Syndrome Viii	Polydactyly, Bifid nasal tip, High palate, Short stature, Cleft palate, Broad nasal tip, Syndacty...	OMIM:300484
Acrofacial Dysostosis Syndrome Of Rodriguez	Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Short philtrum, Wide anterior fontanel...	OMIM:201170
16Q24.3 Microdeletion Syndrome	Solitary median maxillary central incisor, Proximal placement of thumb, Increased mean corpuscula...	ORPHA:261250
Spondyloepimetaphyseal Dysplasia, Shohat Type	Narrow greater sciatic notch, Disproportionate short-limb short stature, Short ribs, Splenomegaly...	OMIM:602557
Campomelic Dysplasia	Fibular hypoplasia, Macrocephaly, Poorly ossified cervical vertebrae, 11 pairs of ribs, Narrow ch...	ORPHA:140
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Talipes, Micromelia, Metatarsus adductus, Broad...	ORPHA:2249
Monosomy 18Q	Kyphoscoliosis, Pectus excavatum, Left-to-right shunt, Aortic valve stenosis, Arachnodactyly, Mic...	ORPHA:1600
Kyphomelic Dysplasia	Tibial bowing, Femoral bowing, Flat acetabular roof, Short metacarpal, Short humerus, Thoracic hy...	OMIM:211350
Langer Mesomelic Dysplasia	Abnormal carpal morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bones, Micro...	ORPHA:2632
Gombo Syndrome	Delayed puberty, Radial deviation of finger, Microcephaly, Brachydactyly, Clinodactyly	OMIM:233270
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormal hip bone morphology, Dental crowding, Tibial bowing, Relative macrocephaly, Microdontia,...	ORPHA:251028
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Short-Rib Thoracic Dysplasia 12	Short long bone, Short ribs, Splenomegaly, Intrauterine growth retardation, Short finger, Short t...	OMIM:269860
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Long philtrum, Intrauterine growth retardation, Cone-shaped e...	ORPHA:439822
Trichorhinophalangeal Syndrome, Type I	Pectus carinatum, Hyperlordosis, Short metacarpal, Microdontia, Cone-shaped epiphyses of the prox...	OMIM:190350
Cranioectodermal Dysplasia 1	Radial deviation of finger, Short ribs, Everted lower lip vermilion, Microdontia, Pectus excavatu...	OMIM:218330
Multiple Epiphyseal Dysplasia, Lowry Type	Fibular hypoplasia, Genu valgum, Rhizomelia, Cleft hard palate, Small epiphyses, Delayed epiphyse...	ORPHA:166016
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Narrow greater sciatic notch, Delayed pubic bone ossification, Disproportionate short-limb short ...	OMIM:184250
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho...	ORPHA:2779
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Kyphoscoliosis, Short long bone, Hyperlordosis, Tooth agenesis, Flattened epiphysis, Thoracic hyp...	OMIM:618363
Intellectual Developmental Disorder, Autosomal Recessive 39	Kyphoscoliosis, Dental malocclusion, Microcephaly, Short stature, Prominent nose, Hallux valgus	OMIM:615541
Chondrodysplasia With Joint Dislocations, Gpapp Type	Irregular epiphyses of the metacarpals, Short long bone, Short metacarpal, Patellar dislocation, ...	OMIM:614078
Myotonia Congenita, Autosomal Recessive	Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic...	OMIM:255700
Acrocapitofemoral Dysplasia	Macrocephaly, Narrow chest, Short thorax, Pectus carinatum, Scoliosis, Hyperlordosis, Pectus exca...	ORPHA:63446
Rhizomelic Syndrome, Urbach Type	Triphalangeal thumb, Rhizomelia, Abnormal form of the vertebral bodies, Abnormality of the elbow,...	ORPHA:3098
Cornelia De Lange Syndrome 2	Limited elbow movement, Proximal placement of thumb, Microcephaly, Cutis marmorata, Intrauterine ...	OMIM:300590
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Hypero...	OMIM:144750
Toluene Embryopathy	Thin vermilion border, Short nose, Biparietal narrowing, Microcephaly, Short stature, Micrognathi...	ORPHA:1920
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Disproportionate short-limb short stature, Short long bone, Femoral bowing, Relative macrocephaly...	OMIM:618019
Atelosteogenesis, Type Iii	Widened distal phalanges, Tombstone-shaped proximal phalanges, Sandal gap, Prominent occiput, Tib...	OMIM:108721
Microcephaly-Micromelia Syndrome	Convex nasal ridge, Wide nose, Narrow chest, Oligodactyly, Narrow mouth, Forearm undergrowth, Mic...	OMIM:251230
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate...	OMIM:268310
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Brachydactyly, Type A2, With Microcephaly	Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Absent middle phalanx of 2nd finger,...	OMIM:211369
Metaphyseal Chondrodysplasia, Spahr Type	Abnormal metaphysis morphology, Disproportionate short stature, Reduced bone mineral density, Sco...	ORPHA:2501
Oculodentodigital Dysplasia, Autosomal Recessive	2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Long nose, Dental crowding, Long p...	OMIM:257850
Perching Syndrome	Scoliosis, High palate, Camptodactyly, Dysphagia, Feeding difficulties, Cyanosis, Depressed nasal...	OMIM:617055
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Overlapping fingers, Mild short stature, Sandal gap, Short hallux, Absent dorsal skin creases ove...	OMIM:618167
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech	OMIM:613227
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Non-midline cleft of the upper lip, Abnormality of th...	ORPHA:1770
Greenberg Dysplasia	Retrognathia, Disproportionate short-limb short stature, Short long bone, Short ribs, Decreased s...	OMIM:215140
Anauxetic Dysplasia 2	Cubitus valgus, Relative macrocephaly, Hyperlordosis, Thoracolumbar kyphoscoliosis, Hypoplasia of...	OMIM:617396
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Clinodactyly of the 5th finger, Anteverted nares, Tricuspid regurgitation, Biparietal narrowing, ...	ORPHA:228396
Roifman Syndrome	Bilateral single transverse palmar creases, Biconvex vertebral bodies, Microcephaly, Long philtru...	ORPHA:353298
Ring Chromosome Y Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona...	ORPHA:261529
Craniosynostosis-Mental Retardation-Clefting Syndrome	Orofacial cleft, Craniosynostosis, Forearm undergrowth, Microcephaly, Lower limb undergrowth, Con...	OMIM:218650
Perrault Syndrome 6	Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas...	OMIM:617565
Oculogastrointestinal Muscular Dystrophy	Abdominal distention, Abnormality of the gastrointestinal tract, Intestinal pseudo-obstruction, G...	ORPHA:1876
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Disproportionate short stature, Abnormal tibia morpho...	ORPHA:2634
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ...	ORPHA:2141
Craniodiaphyseal Dysplasia	Diaphyseal undertubulation, Frontal bossing, Abnormal rib morphology, Craniofacial hyperostosis	ORPHA:1513
Non-Distal Deletion 10Q	Bilateral single transverse palmar creases, Overlapping fingers, Clinodactyly of the 5th finger, ...	ORPHA:1581
Lathosterolosis	Microcephaly, Abnormal platelet morphology, Long philtrum, Intrauterine growth retardation, Intra...	ORPHA:46059
Digital Arthropathy-Brachydactyly, Familial	Radial deviation of finger, Brachytelomesophalangy, Short distal phalanx of toe, Short middle pha...	OMIM:606835
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Greenberg Dysplasia	Abnormal bone ossification, Rhizomelia, Narrow chest, Abnormal form of the vertebral bodies, Abno...	ORPHA:1426
Cardiofaciocutaneous Syndrome	Pectus excavatum, Pulmonic stenosis, Long philtrum, Deep palmar crease, Excessive wrinkled skin, ...	ORPHA:1340
Cutis Laxa, Autosomal Recessive, Type Iie	Pectus excavatum, Syndactyly, Long philtrum, Craniosynostosis, Genu varum, Hip dislocation, Coppe...	OMIM:619451
Sugarman Brachydactyly	Proximal placement of hallux, Short proximal phalanx of finger, Symphalangism affecting the proxi...	OMIM:272150
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Delayed puberty, Turricephaly, Proximal tibial and fibular fusion, Femoral bo...	ORPHA:95699
Codas Syndrome	Proximal placement of thumb, Delayed ossification of carpal bones, Short metacarpal, Broad skull,...	OMIM:600373
Alagille Syndrome	Delayed puberty, Long nose, Abnormal form of the vertebral bodies, Hypertension, Cholestasis, Sho...	ORPHA:52
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp...	OMIM:268305
Autosomal Recessive Omodysplasia	Abnormal metaphysis morphology, Short nose, Abnormal femur morphology, Rhizomelia, Anteverted nar...	ORPHA:93329
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Short long bone, Femoral bowing, Short ribs, Absent tibia, Thoracic hypoplasia, Cone-shaped epiph...	OMIM:613091
Cranioectodermal Dysplasia	Prominent occiput, Everted lower lip vermilion, Microdontia, Pectus excavatum, Short distal phala...	ORPHA:1515
Melnick-Needles Syndrome	Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Pectus excavat...	OMIM:309350
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Disproportionate short-limb short stature, Aplasia/Hypopla...	ORPHA:2098
Intermediate Osteopetrosis	Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Recurrent fractures...	ORPHA:210110
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Short nose, Lambdoidal craniosynostosis, Brachycephaly, Macro...	OMIM:615398
Momo Syndrome	Abnormal bone ossification, Wide nasal base, Femoral bowing, Cutis marmorata, Long philtrum, Taur...	ORPHA:2563
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Sandal gap, Abnormal form of the vertebral bodies, Ab...	ORPHA:1106
Pierpont Syndrome	Deep plantar creases, Prominent fingertip pads, Everted lower lip vermilion, Broad philtrum, Prom...	OMIM:602342
Roifman Syndrome	Biconvex vertebral bodies, Short metacarpal, Microcephaly, Irregular femoral epiphysis, Splenomeg...	OMIM:616651
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Genu valgum, Cubitus valgus, Metaphyseal striations, Hypoplasia of the maxilla, Failu...	OMIM:608154
Premature Ovarian Failure 6	Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ...	OMIM:612310
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Macrocephaly, Lat...	ORPHA:3144
Kyphomelic Dysplasia	Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Short thorax, Flat acetabula...	ORPHA:1801
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Kyphoscoliosis, Bilateral single transverse palmar creases, Multiple carpal ossification centers,...	OMIM:143095
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Microcephaly, Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cutaneous sy...	ORPHA:370010
Coloboma Of Macula-Brachydactyly Type B Syndrome	Broad thumb, Camptodactyly of finger, Short stature, Short distal phalanx of finger, Type B brach...	ORPHA:1471
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of...	OMIM:609616
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal c...	ORPHA:1802
Epiphyseal Dysplasia, Multiple, 7	Monkey wrench femoral neck, Flat acetabular roof, Epiphyseal dysplasia, Hypoplasia of the capital...	OMIM:617719
Maxillonasal Dysplasia	Abnormal nostril morphology, Short nose, Patchy distortion of vertebrae, Mandibular prognathia, O...	ORPHA:1248
Astley-Kendall Dysplasia	Micromelia	ORPHA:85175
Brachydactyly, Type A4	Congenital talipes calcaneovalgus, Short middle phalanx of the 5th finger, Aplasia of the middle ...	OMIM:112800
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Abnormal vertebral morphology, Anteverted nares, Short stature, Micrognathia, Cleft p...	ORPHA:2015
Hypochondroplasia	Abnormal metaphysis morphology, Childhood onset short-limb short stature, Abnormal femur morpholo...	ORPHA:429
Atelosteogenesis Type I	Absent or minimally ossified vertebral bodies, Abnormal fibula morphology, Rhizomelia, Abnormal p...	ORPHA:1190
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Reduced bone mineral density, Pectus carinatum, Delayed ossification of carpal bones, Decreased b...	OMIM:618392
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal thumb morphology, Tarsal synostosis, Abnormal tibia morphology, Narrow nasal bridge, Syn...	ORPHA:2639
Ovarian Dysgenesis 9	Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci...	OMIM:619665
Heart-Hand Syndrome Type 2	Abnormal clavicle morphology, Short 4th metacarpal, Abnormal palate morphology, Abnormal shoulder...	ORPHA:1350
Vitamin D-Dependent Rickets, Type 2A	Bulging of the costochondral junction, Femoral bowing, Tibial bowing, Metaphyseal irregularity, R...	OMIM:277440
Developmental Malformations-Deafness-Dystonia Syndrome	Orofacial cleft, Femoral retroversion, Scoliosis, Hypoplastic scapulae, Micromelia, Kyphosis, Sho...	ORPHA:79107
Orofaciodigital Syndrome Type 10	Retrognathia, Mesomelic arm shortening, Oligodactyly, Prominent calcaneus, Long philtrum, Accesso...	ORPHA:2756
Spondyloepimetaphyseal Dysplasia, Shohat Type	Generalized bone demineralization, Short long bone, Hyperlordosis, Severe short stature, Thoracic...	ORPHA:93352
Progeria-Short Stature-Pigmented Nevi Syndrome	Delayed puberty, Neoplasm of the pancreas, T lymphocytopenia, Generalized osteoporosis, Microceph...	ORPHA:2959
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Abnormal rib morphology, Rad...	ORPHA:3268
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma...	ORPHA:477781
Achondrogenesis, Type Ib	Neonatal short-limb short stature, Absent or minimally ossified vertebral bodies, Stillbirth, Abd...	OMIM:600972
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Premature ovarian insufficiency, Micromelia, Camptodactyly of finger, Brachydactyly, Ulnar deviat...	ORPHA:2928
Mosaic Trisomy 9	Rocker bottom foot, Deep plantar creases, Abnormal liver lobulation, Prominent occiput, Microceph...	ORPHA:99776
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Abnormal sternum morphology, Sh...	ORPHA:457395
Blepharophimosis-Impaired Intellectual Development Syndrome	Narrow nasal ridge, Microdontia, Wide mouth, Short distal phalanx of finger, Short philtrum, Tali...	OMIM:619293
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Sandal gap, Dental crowding, Everted lower lip vermilion, Pectus excavatum, Pulmonic stenosis, Lo...	OMIM:617877
Odontochondrodysplasia	Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Short nose, Platyspondyly, Dela...	ORPHA:166272
Slc35A2-Cdg	Osteopenia, Abnormality of the hand, Hip subluxation, Abnormal long bone morphology, Talipes equi...	ORPHA:356961
Distal Duplication 5Q	Hypoplasia of the ulna, Hypoplasia of the radius, Thin vermilion border, Short nose, Narrow mouth...	ORPHA:96097
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Frontal bossing, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Slender long bone	ORPHA:1506
Osteogenesis Imperfecta, Type X	Tibial bowing, Relative macrocephaly, Dentinogenesis imperfecta, Thoracic hypoplasia, Broad ribs,...	OMIM:613848
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Macrocephaly, Barrel-shaped chest, Increased bone mineral density, Premature loss of ...	OMIM:239000
Rothmund-Thomson Syndrome	Aplastic anemia, Reduced bone mineral density, Microdontia, Palmar hyperkeratosis, Plantar hyperk...	ORPHA:2909
Ovarian Dysgenesis 6	Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ...	OMIM:618078
Familial Digital Arthropathy-Brachydactyly	Shortening of all distal phalanges of the toes, Short middle phalanx of finger, Osteoarthritis of...	ORPHA:85169
Intellectual Disability And Myopathy Syndrome	Limited elbow extension, Left ventricular systolic dysfunction, Scoliosis, Incisor macrodontia, C...	OMIM:619719
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Widely spaced teeth, Narrow chest, Bowed humerus, Tube feeding, Disproportionate short-limb short...	OMIM:619479
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Spasticity, Tremor, Cognitive impairment, Ataxia	OMIM:611105
Normosmic Congenital Hypogonadotropic Hypogonadism	Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe...	ORPHA:432
Isotretinoin Syndrome	Spina bifida occulta, Biparietal narrowing, Micrognathia, Cleft palate, Depressed nasal bridge	ORPHA:2305
Ulnar Hypoplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis...	OMIM:191440
Crane-Heise Syndrome	Finger syndactyly, Anteverted nares, Decreased skull ossification, Abnormally ossified vertebrae,...	ORPHA:1512
Hall-Riggs Syndrome	Abnormal metaphysis morphology, Platyspondyly, Delayed eruption of teeth, Abnormal dental enamel ...	ORPHA:2107
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Genu valgum, Ulnar deviated club hands, Arthralgia of ...	ORPHA:166002
Cono-Spondylar Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Anteverted nares, Scoliosis, Kyphosis, Epiphy...	ORPHA:420794
Florid Cemento-Osseous Dysplasia	Supernumerary tooth, Multiple bony cystic lesions, Atrophy of alveolar ridges, Abnormality of pri...	ORPHA:83451
Larsen-Like Syndrome	Brachycephaly, Kyphoscoliosis, Macrocephaly, Clinodactyly of the 5th finger, Wide anterior fontan...	OMIM:608545
Ruvalcaba Syndrome	Short metatarsal, Underdeveloped nasal alae, Short metacarpal, Micromelia, Short palm, Short phal...	OMIM:180870
Bent Bone Dysplasia Syndrome 2	Hypoplastic iliac wing, Femoral bowing, Short ribs, Relative macrocephaly, Short lower limbs, Int...	OMIM:620076
Ivic Syndrome	Limited elbow movement, Absent thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Scoliosis...	OMIM:147750
Chromosome 20Q11-Q12 Deletion Syndrome	Short philtrum, Tarsal osteovalgus, Camptodactyly, Frontal bossing, Brachydactyly, Intrauterine g...	OMIM:614257
Myotonia Congenita, Autosomal Dominant	Handgrip myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm-up phenom...	OMIM:160800
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Short ribs, Relative macroce...	OMIM:616300
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r...	ORPHA:93314
Spinal Muscular Atrophy, Jokela Type	Difficulty walking, Hammertoe, Fasciculations, Tremor, Elevated circulating creatine kinase conce...	OMIM:615048
Epiphyseal Dysplasia, Multiple, 1	Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific...	OMIM:132400
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Dysostosis, Stanescu Type	Hyperlordosis, Pectus excavatum, Kyphosis, Tooth agenesis, Microcephaly, Massively thickened long...	ORPHA:1798
3Q29 Microduplication Syndrome	Macrocephaly, Sandal gap, High palate, Abnormality of the dentition, Biparietal narrowing, Campto...	ORPHA:251038
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Secondary amenorrhea, ...	OMIM:612964
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Coxa vara, Micromelia	ORPHA:168555
Acrorenal-Mandibular Syndrome	Kyphoscoliosis, Split foot, Intrauterine growth retardation, Hip dislocation, Hypoplasia of the u...	OMIM:200980
Ulnar Hypoplasia With Mental Retardation	Talipes equinovarus, Limited elbow movement, Limitation of knee mobility, Bilateral ulnar hypoplasia	OMIM:276821
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu...	OMIM:274000
Smith-Lemli-Opitz Syndrome	Abnormality of the gallbladder, Proximal placement of thumb, Abnormal form of the vertebral bodie...	ORPHA:818
Perrault Syndrome 4	Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus...	OMIM:615300
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Absent toe, Short ribs, Hypoplastic pelvis, Syndactyly, Scoliosis, 4-5 toe syndactyly, Short stat...	OMIM:308050
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Percussion myotonia, Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased ...	ORPHA:34516
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Femoral bowing, Short long bone, Short metacarpal, Tibial bowing, C...	OMIM:608940
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Postnatal growth retardation, Anemia, Lower-limb metaphyseal irregularity, Enlarged metaphyses, S...	OMIM:618728
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short long bone, Flat acetabular roof, Short ribs, Hypertension, Hypoplastic ischia, Iliac crest ...	OMIM:613320
Potocki-Lupski Syndrome	Oral-pharyngeal dysphagia, Gastroesophageal reflux, Dental crowding, Mandibular prognathia, Promi...	OMIM:610883
Dystonia-Deafness Syndrome 1	Kyphoscoliosis, Femoral retroversion, Cleft upper lip, Cleft palate, Dysphagia, Achalasia, Hypopl...	OMIM:607371
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Narrow chest, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly,...	OMIM:611263
Aminopterin Syndrome Sine Aminopterin	Brachycephaly, Macrocephaly, Oligodontia, High palate, Decreased body weight, Intrauterine growth...	OMIM:600325
Cleft Palate, Isolated	Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate	OMIM:119540
Premature Ovarian Failure 13	Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen...	OMIM:617442
Spondyloepimetaphyseal Dysplasia, Missouri Type	Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low...	ORPHA:93356
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Macrocephaly, Sandal gap, Abnormal form of the vertebral bodies, Cutaneous photosensitivity, Abno...	ORPHA:2180
Peho Syndrome	Abnormal palate morphology, Short nose, Anteverted nares, Gingival overgrowth, Biparietal narrowi...	ORPHA:2836
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Amelogenesis Imperfecta	Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati...	ORPHA:88661
Ovarian Dysgenesis 7	Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu...	OMIM:618117
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Clinodactyly of the 2nd finger, Hyperlordosis, Flat acetabular roof, Limited knee extension, Pect...	OMIM:618870
Harrod Syndrome	Long nose, Abnormal shoulder morphology, Hypospadias, Scoliosis, High palate, Abnormal pelvic gir...	ORPHA:2115
Brachydactyly, Type D	Type D brachydactyly, Broad distal phalanx of the thumb, Broad distal phalanx of the hallux	OMIM:113200
Acrodysostosis 2 With Or Without Hormone Resistance	Short nose, Short metatarsal, Hypospadias, Anteverted nares, Mandibular prognathia, Short metacar...	OMIM:614613
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Stillbirth, Abnormal hip bone morphology, Cleft palate, Upper limb phocomelia, Synda...	ORPHA:294975
Multiple Epiphyseal Dysplasia Type 4	Skewfoot, Short metacarpal, Broad femoral neck, Abnormal forearm bone morphology, Contracture of ...	ORPHA:93307
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor, Short stature, Brachydactyly, Adducted thumb, Hydrocele testis	OMIM:620062
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nose, Short nasal septum, Abnormality of the vertebral column, Epiphyseal stippling, Anosmi...	OMIM:302950
Multiple Epiphyseal Dysplasia, Beighton Type	Lumbar platyspondyly, Abnormal hand metaphysis morphology, Biconcave vertebral bodies, Thoracic p...	ORPHA:166011
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Clinodactyly of the 5th finger, Knee flexion contracture, Abdominal pain, 2-3 toe syn...	OMIM:616809
Brachydactyly, Type A1, B	Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact...	OMIM:607004
Seckel Syndrome 7	Abnormal carpal morphology, Clinodactyly of the 5th finger, Short middle phalanx of the 5th finge...	OMIM:614851
Multiple Synostoses Syndrome	Bilateral single transverse palmar creases, Broad thumb, Short palm, Symphalangism affecting the ...	ORPHA:3237
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Short stature, Elevated circulating follicle stimulating hormone ...	OMIM:614129
Anauxetic Dysplasia 3	Retrognathia, Femoral bowing, Short metacarpal, Pectus excavatum, Trident hand, Severe short stat...	OMIM:618853
Chromosome 15Q26-Qter Deletion Syndrome	Intrauterine growth retardation, Microcephaly, Failure to thrive, Micrognathia, Short middle phal...	OMIM:612626
Jeune Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Narrow chest, Short thorax, Abnorma...	ORPHA:474
Orofaciodigital Syndrome Ix	Bifid nasal tip, High palate, Abnormality of the dentition, Camptodactyly, Microcephaly, Short st...	OMIM:258865
Diastrophic Dysplasia	Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Symphalangism affec...	ORPHA:628
W Syndrome	Hypoplasia of the ulna, Pes cavus, Cubitus valgus, Broad uvula, Camptodactyly, Metatarsus adductu...	ORPHA:2804
Cohen Syndrome	Delayed puberty, Childhood-onset truncal obesity, Short metacarpal, Microcephaly, Leukopenia, Neu...	OMIM:216550
Diastrophic Dysplasia	Kyphoscoliosis, Short finger, Neonatal short-limb short stature, Genu valgum, Irregular epiphyses...	OMIM:222600
Craniofrontonasal Dysplasia	Sandal gap, Pectus excavatum, Microcephaly, Craniosynostosis, Abnormal clavicle morphology, Scoli...	ORPHA:1520
Premature Ovarian Failure 3	Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus	OMIM:608996
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Unsteady gait, Ataxia, Dysphagia	OMIM:615945
Summitt Syndrome	Short 4th metacarpal, Plagiocephaly, Genu valgum, Clinodactyly of the 5th finger, Macrocephaly, W...	ORPHA:3210
Hallermann-Streiff Syndrome	Hypertension, Hyperlordosis, Everted lower lip vermilion, Pectus excavatum, Microcephaly, Thin ca...	OMIM:234100
Legg-Calvé-Perthes Disease	Cartilage destruction	ORPHA:2380
Temtamy Preaxial Brachydactyly Syndrome	Radial deviation of finger, Clinodactyly of the 2nd finger, Microdontia, Abnormal spaced incisors...	ORPHA:363417
Oligodontia	Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age...	ORPHA:99798
Acromicric Dysplasia	Thick lower lip vermilion, Anteverted nares, Short long bone, Narrow mouth, Short metacarpal, Sho...	OMIM:102370
Intellectual Developmental Disorder, Autosomal Recessive 74	Narrow palate, Macrocephaly, Mandibular prognathia, Relative macrocephaly, Dolichocephaly, Brachy...	OMIM:617169
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Broad clavicles, Short metacarpal, Trigonocephaly, Bone marrow hypocellularity, Short humerus, Le...	ORPHA:508542
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging of the costochondral junction, Femoral bowing, Tibial bowing, Metaphyseal irregularity, R...	OMIM:264700
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast...	OMIM:208500
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Prominent occiput, Bifid first metacarpal, Femoral bowing, Short metacarpal,...	OMIM:210710
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Bone Dysplasia, Lethal Holmgren Type	Abnormal femur morphology, Short ribs, Nausea and vomiting, Abnormal epiphysis morphology, Abnorm...	ORPHA:1842
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre...	OMIM:614841
Achondrogenesis, Type Ii	Short tubular bones of the hand, Stillbirth, Brachycephaly, Abnormal foot morphology, Barrel-shap...	OMIM:200610
Premature Ovarian Failure 18	Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl...	OMIM:619203
Fanconi Anemia, Complementation Group S	Narrow palate, Anemia, Proximal placement of thumb, Anteverted nares, Underdeveloped nasal alae, ...	OMIM:617883
Beaulieu-Boycott-Innes Syndrome	Premature ovarian insufficiency, Endometriosis, Carious teeth, Velopharyngeal insufficiency, Micr...	OMIM:613680
Fetal Alcohol Syndrome	Short nose, Non-midline cleft of the upper lip, Anteverted nares, Vertebral segmentation defect, ...	ORPHA:1915
Adult Neuronal Ceroid Lipofuscinosis	Abnormality of extrapyramidal motor function, Spasticity, Tremor, Myoclonus, Motor deterioration,...	ORPHA:79262
Odontotrichoungual-Digital-Palmar Syndrome	Short first metatarsal, Single transverse palmar crease, Mandibular prognathia, Short distal phal...	OMIM:601957
Müllerian Aplasia And Hyperandrogenism	Increased serum testosterone level, Short philtrum, Abnormal vagina morphology, Abnormality of th...	ORPHA:247768
Visceral Myopathy, Familial, With External Ophthalmoplegia	Abdominal distention, Gastroparesis, Abdominal pain, Spontaneous esophageal perforation, Malnutri...	OMIM:277320
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Macrocephaly, Abnormal cartilage matrix, Narrow chest, Flared metaph...	ORPHA:2347
Frontometaphyseal Dysplasia 1	Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co...	OMIM:305620
Trichorhinophalangeal Syndrome, Type Iii	Dental crowding, Short metacarpal, Long philtrum, Short finger, Scoliosis, Short stature, Short p...	OMIM:190351
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Disproportionate short-limb short stature, Anterior scalloping of vertebral bodies, Hypoplastic i...	OMIM:611717
Atkin-Flaitz Syndrome	Everted lower lip vermilion, Abnormality of the dentition, Maxillary lateral incisor microdontia,...	ORPHA:1193
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Clinodactyly of the 5th toe, Prolonged QT interval, Prominent U wave, Dent...	OMIM:170390
Ovarian Dysgenesis 5	Short stature, Elevated circulating follicle stimulating hormone level, Elevated circulating lute...	OMIM:617690
Shox-Related Short Stature	Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Scoliosis, Tibial...	ORPHA:314795
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Clinodactyly of the 5th finger, Anteverted nares, Glossoptosis, Biparietal narrowing,...	ORPHA:2031
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, H...	ORPHA:2839
Orofaciodigital Syndrome Xviii	Preaxial polydactyly, Genu valgum, Sandal gap, Short philtrum, Single transverse palmar crease, P...	OMIM:617927
Baller-Gerold Syndrome	Limited elbow movement, Anomalous splenoportal venous system, Turricephaly, Carpal bone aplasia, ...	OMIM:218600
Feingold Syndrome Type 2	Microcephaly, Short stature, Short middle phalanx of finger, Short thumb, Brachydactyly, Toe synd...	ORPHA:391646
Cri-Du-Chat Syndrome	Premature graying of hair, Short metacarpal, Microcephaly, Bifid uvula, Syndactyly, Short philtru...	OMIM:123450
Orofaciodigital Syndrome Iv	Short finger, Hamartoma of tongue, Tongue nodules, High palate, Pectus excavatum, Foot polydactyl...	OMIM:258860
Keipert Syndrome	Broad distal phalanx of finger, Clinodactyly of the 5th finger, Macrocephaly, Short hallux, Exagg...	ORPHA:2662
Joubert Syndrome	Orofacial cleft, Abnormal form of the vertebral bodies, Anteverted nares, Scoliosis, Biparietal n...	ORPHA:475
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Babinski sign, Abnormality of extrapyramidal motor function, Depression, Confusion, Tremor, Myocl...	OMIM:615362
Auriculocondylar Syndrome 2A	Short mandibular rami, Macrocephaly, Mandibular condyle hypoplasia, Dental crowding, Temporomandi...	OMIM:614669
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Beaking of vertebral bodies, Short nose, Lumbar platyspondyly, Narrow chest, Anteverted nares, Sh...	OMIM:618961
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Sandal gap, Abnormal finger morphology, Everted lower lip vermili...	ORPHA:3051
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Bicornuate uterus, Short stature, Cleft upper lip, Micrognathia, Cleft palate, Hypop...	OMIM:601076
Migraine, Familial Hemiplegic, 1	Agitation, Confusion, Tremor, Hemiparesis, Ataxia, Hemiplegia	OMIM:141500
Shprintzen-Goldberg Craniosynostosis Syndrome	Dislocated radial head, Pectus carinatum, Brachyturricephaly, Pectus excavatum, Microcephaly, Ara...	OMIM:182212
Satoyoshi Syndrome	Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,...	OMIM:600705
Martsolf Syndrome 1	Slender ulna, Pectus carinatum, Cardiomyopathy, Short metacarpal, Pectus excavatum, Microcephaly,...	OMIM:212720
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly, Metacarpal synostosis, Brachydactyly	ORPHA:35099
Hyperphenylalaninemia, Bh4-Deficient, C	Irritability, Hypertonia, Tremor, Hyperphenylalaninemia, Microcephaly, Dystonia, Dysphagia, Progr...	OMIM:261630
Turnpenny-Fry Syndrome	Hypoplasia of the primary teeth, Dental crowding, Pectus carinatum, Relative macrocephaly, Thorac...	OMIM:618371
Opsismodysplasia	Abnormal metaphysis morphology, Short nose, Flat occiput, Macrocephaly, Hepatomegaly, Narrow ches...	ORPHA:2746
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Postnatal growth retardation, Abnormal foot mor...	OMIM:263750
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Broad femoral neck, Severe short stature, Abnormality of the hand, Hump-shaped mound of bone in c...	ORPHA:99642
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal metaphysis morphology, Thin vermilion border, Retrognathia, Abnormal hip bone morphology...	ORPHA:2631
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Abdominal distention, Large for gestational age, Bradycardia, Absent ossification of capital femo...	ORPHA:226313
Joubert Syndrome With Ocular Defect	Orofacial cleft, Abnormal vertebral morphology, Anteverted nares, Scoliosis, Biparietal narrowing...	ORPHA:220493
Basal Ganglia Calcification, Idiopathic, 1	Bradykinesia, Memory impairment, Depression, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait ...	OMIM:213600
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Proximal placement of thumb, Cervical C2/C3 vertebral fus...	OMIM:142900
Ulnar Hypoplasia-Split Foot Syndrome	Split foot, Split hand, Aplasia/Hypoplasia of the radius, Hypoplasia of the ulna	ORPHA:1122
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Abnormality of the hand, Anterior ...	OMIM:605274
Sclerosteosis 1	Sclerotic vertebral endplates, Irregular menstruation, Tooth malposition, Broad clavicles, Mandib...	OMIM:269500
Kabuki Syndrome 2	Prominent fingertip pads, Pulmonic stenosis, Microcephaly, Intrauterine growth retardation, Short...	OMIM:300867
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar	OMIM:114700
Spinocerebellar Ataxia 43	Limb ataxia, Tremor, Gait ataxia, Rigidity, Ataxia	OMIM:617018
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal thumb morphology, Obesity, Abnormal metacarpal morphology, Type A brachydactyly	ORPHA:1078
Otospondylomegaepiphyseal Dysplasia	Sandal gap, Tibial bowing, Glossoptosis, Short metacarpal, Abnormally ossified vertebrae, Bifid u...	ORPHA:1427
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Mandibular prognathia, Abnormal nasal base norphology, Microcephal...	ORPHA:1919
Clark-Baraitser syndrome	Thick lower lip vermilion, Genu valgum, Prominent median palatal raphe, Exaggerated median tongue...	OMIM:300602
Paramyotonia Congenita	Handgrip myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Feeding difficulties, Parado...	OMIM:168300
Pelvis-Shoulder Dysplasia	Clinodactyly of the 5th finger, Spina bifida occulta, Hypoplastic acetabulae, Short clavicles, Hy...	OMIM:169550
Keipert Syndrome	Broad distal phalanx of finger, Macrocephaly, Wide nose, Exaggerated cupid's bow, Camptodactyly, ...	OMIM:301026
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Kyphoscoliosis, Everted lower lip vermilion, Cutis marmorata, Long philtrum, Intrauterine growth ...	OMIM:620494
Jackson-Weiss Syndrome	Convex nasal ridge, Abnormal fibula morphology, Abnormal palate morphology, Turricephaly, Short m...	ORPHA:1540
Schaaf-Yang Syndrome	Rocker bottom foot, Retrognathia, Kyphosis, Hypogonadism, Clinodactyly, Scoliosis, Abnormality of...	OMIM:615547
Neuralgic Amyotrophy	Narrow mouth, Scapular winging, Short stature, Sprengel anomaly, Upper limb amyotrophy, Cleft pal...	ORPHA:2901
Bardet-Biedl Syndrome 5	Polydactyly, Obesity, Syndactyly, Hypogonadism, Brachydactyly	OMIM:615983
11Q22.2Q22.3 Microdeletion Syndrome	Bilateral single transverse palmar creases, High, narrow palate, Clinodactyly of the 5th finger, ...	ORPHA:444002
20P12.3 Microdeletion Syndrome	Wolff-Parkinson-White syndrome, Macrocephaly, Pectus carinatum, Narrow mouth, Broad thumb, Hypopl...	ORPHA:261295
Schimke Immuno-Osseous Dysplasia	Abnormal femoral head morphology, Hypertension, Cerebral ischemia, Microdontia, Hypoplastic pelvi...	ORPHA:1830
Intellectual Developmental Disorder, Autosomal Recessive 48	Aggressive behavior, Inability to walk, Emotional lability, Tremor, Waddling gait, Inappropriate ...	OMIM:616269
Omodysplasia 1	Disproportionate short-limb short stature, Limited knee extension, Short humerus, Long philtrum, ...	OMIM:258315
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ...	ORPHA:93351
Hypocalcemic Vitamin D-Dependent Rickets	Femoral bowing, Tibial bowing, Cardiomyopathy, Splenomegaly, Genu varum, Rickets, Enlargement of ...	ORPHA:289157
Ruvalcaba Syndrome	Delayed puberty, Proximal placement of thumb, Dental crowding, Pectus carinatum, Short metacarpal...	ORPHA:3121
Brachydactyly-Preaxial Hallux Varus Syndrome	Abnormal palate morphology, Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Fr...	ORPHA:1278
Qazi-Markouizos Syndrome	Abdominal distention, High, narrow palate, Delayed ossification of carpal bones, Pectus excavatum...	ORPHA:3010
Pseudoachondroplasia	Disproportionate short-limb short stature, Short long bone, Short metacarpal, Kyphosis, Metaphyse...	OMIM:177170
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes, Dumbbell-...	ORPHA:1836
Lessel-Kreienkamp Syndrome	Plagiocephaly, Clinodactyly of the 5th finger, Gastroesophageal reflux, Pulmonic stenosis, Fronta...	OMIM:619149
Joubert Syndrome With Renal Defect	Orofacial cleft, Anteverted nares, Scoliosis, Biparietal narrowing, Hand polydactyly, Cleft palat...	ORPHA:220497
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Mandibular prognathia, Short stature, Frontal bossing, Broad hallux, Short thumb, Brachydactyly, ...	OMIM:165800
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Joubert Syndrome With Hepatic Defect	Orofacial cleft, Cirrhosis, Macrocephaly, Hepatomegaly, Anteverted nares, Scoliosis, Intrahepatic...	ORPHA:1454
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Shor...	OMIM:250460
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Brachydactyly, Dental malocclusion	OMIM:619692
20Q11.2 Microdeletion Syndrome	Short philtrum, Camptodactyly, Frontal bossing, Brachydactyly, Intrauterine growth retardation, A...	ORPHA:444051
Huntington Disease-Like 1	Abnormal posturing, Bradykinesia, Memory impairment, Depression, Chorea, Incoordination, Poor fin...	ORPHA:157941
Tetralogy Of Fallot	Thin vermilion border, Clinodactyly of the 5th finger, Dolichocephaly, Abnormal nasal morphology,...	ORPHA:3303
Osteogenesis Imperfecta	Intestinal obstruction, Reduced bone mineral density, Abnormal femur morphology, Abnormal hip bon...	ORPHA:666
Mesomelia-Synostoses Syndrome	Abnormal femur morphology, Abnormal oral frenulum morphology, Mesomelia, Long philtrum, Abnormali...	ORPHA:2496
Microphthalmia With Limb Anomalies	Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypo...	OMIM:206920
Opsismodysplasia	Disproportionate short-limb short stature, Short long bone, Flat acetabular roof, Short metacarpa...	OMIM:258480
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormal bone ossification, Flat acetabular roof, Wide proximal femoral metaphysis, Flattened epi...	ORPHA:163649
Acrofacial Dysostosis, Rodríguez Type	Fibular hypoplasia, Abnormal form of the vertebral bodies, Finger syndactyly, Abnormal pelvic gir...	ORPHA:1788
Autosomal Recessive Distal Osteolysis Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Short stature, Broad nasal tip, Short di...	ORPHA:2776
Juberg-Hayward Syndrome	Hypoplasia of the radius, Orofacial cleft, Abnormal vertebral morphology, Abnormality of the wris...	ORPHA:2319
Brachydactyly Type C	Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Stipp...	ORPHA:93384
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Micrognathia,...	OMIM:602196
Catel-Manzke Syndrome	Low insertion of columella, Glossoptosis, Short metacarpal, Ulnar deviation of the 2nd finger, Sh...	OMIM:616145
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Abnorm...	ORPHA:3409
Carpenter Syndrome 1	Flared iliac wing, Pulmonic stenosis, Duplication of the proximal phalanx of the hallux, Genu var...	OMIM:201000
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization	OMIM:617217
Terminal Osseous Dysplasia	Mesomelic arm shortening, Abnormal hand bone ossification, Abnormal bone structure, Abnormality o...	OMIM:300244
Lethal Recessive Chondrodysplasia	Micrognathia, Limb undergrowth, Flared elbow metaphyses, Micromelia	ORPHA:1423
ERI1-related disease	Dislocated radial head, Pectus carinatum, Oligodactyly, Pectus excavatum, Trigonocephaly, Slender...	OMIM:608739
Zimmermann-Laband Syndrome	Deep plantar creases, Overtubulated long bones, Bifid uvula, Wide mouth, Joint hypermobility, Dee...	ORPHA:3473
Schwartz-Jampel Syndrome	Flexion contracture of toe, Cachexia, Pectus carinatum, Hyperlordosis, Abnormally ossified verteb...	ORPHA:800
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short nose, Macrocephaly, Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wi...	OMIM:300863
Momo Syndrome	Brachycephaly, Long foot, Thick lower lip vermilion, Macrocephaly, Delayed eruption of teeth, Hig...	OMIM:157980
Hyperparathyroidism, Transient Neonatal	Osteopenia, Brachycephaly, Subperiosteal bone formation, Gastroesophageal reflux, Splenic cyst, N...	OMIM:618188
Craniosynostosis 1	Turricephaly, Right unicoronal synostosis, Prominent occiput, Biparietal narrowing, Aortic valve ...	OMIM:123100
Metatropic Dysplasia	Abnormal metaphysis morphology, Abnormal cortical bone morphology, Clinodactyly of the 5th finger...	ORPHA:2635
Mesomelic Limb Shortening And Bowing	Retrognathia, Mesomelic arm shortening, Camptodactyly of finger, Micrognathia, Mesomelic leg shor...	OMIM:249710
Metaphyseal Chondrodysplasia, Schmid Type	Genu valgum, Metaphyseal sclerosis, Broad middle phalanx of finger, Femoral bowing, Irregular ace...	OMIM:156500
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Retrognathia, Premature ovarian insufficiency, Hypospadias, Endometriosis, Thin lower lip vermili...	ORPHA:363444
Coffin-Lowry Syndrome	Pectus carinatum, Short metacarpal, Everted lower lip vermilion, Kyphosis, Microcephaly, Pectus e...	OMIM:303600
Eng-Strom Syndrome	Scoliosis, Pectus excavatum, Short stature, Camptodactyly of finger, Brachydactyly, Intrauterine ...	ORPHA:1937
Non-Distal Duplication 10Q	Short nose, Scoliosis, High palate, Everted lower lip vermilion, Short stature, Micrognathia, Joi...	ORPHA:1695
Desbuquois Dysplasia 2	Dental crowding, Pectus carinatum, Short long bone, Flat acetabular roof, Short metacarpal, Relat...	OMIM:615777
Tetrasomy 5P	Postnatal growth retardation, Congestive heart failure, Short nose, Macrocephaly, Clinodactyly of...	ORPHA:3309
Robinow Syndrome	Kyphoscoliosis, Mesomelic arm shortening, Broad alveolar ridges, Dental crowding, Pulmonic stenos...	ORPHA:97360
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Short stature, Micrognathia, Broad columella, Malar flattening, Brachydactyly, Dental malocclusio...	ORPHA:436245
Frank-Ter Haar Syndrome	Kyphoscoliosis, Broad alveolar ridges, Broad clavicles, Short long bone, Pectus excavatum, Kyphos...	OMIM:249420
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Macrocephaly, High palate, Hypoplasia of the maxilla, Camptodactyly of finger, Short palm, Clinod...	ORPHA:85279
Arthrogryposis, Distal, Type 2B2	Overlapping fingers, Sandal gap, Tapered finger, Narrow mouth, Camptodactyly, Metatarsus adductus...	OMIM:618435
Boomerang Dysplasia	Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Finger synd...	ORPHA:1263
Lissencephaly Syndrome, Norman-Roberts Type	Rocker bottom foot, Wide nose, Prominent occiput, Abnormal calvaria morphology, Dolichocephaly, H...	ORPHA:89844
Ophthalmomandibulomelic Dysplasia	Ulnar deviated club hands, Synostosis of carpal bones, Micromelia, Camptodactyly of finger, Mesom...	ORPHA:2741
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Hypoplasia of the radius, Bilateral cleft palate, Anemia of inadequate pr...	OMIM:614900
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Short long bone, Short ribs, Absent nasal bridge, Fibular hypoplasi...	OMIM:617925
Cog7-Cdg	Postnatal growth retardation, Retrognathia, Jaundice, Excessive wrinkled skin, Hepatomegaly, Diar...	ORPHA:79333
Cerebrocostomandibular Syndrome	Anomalous rib insertion to vertebrae, Glossoptosis, Microcephaly, Short humerus, Thoracic hypopla...	OMIM:117650
Eiken Syndrome	Delayed ossification of carpal bones, Eruption failure, Flat acetabular roof, Broad metatarsal, M...	OMIM:600002
Cornelia De Lange Syndrome 5	Retrognathia, Proximal placement of thumb, Microcephaly, Cutis marmorata, Hypogonadism, Long phil...	OMIM:300882
Burning Mouth Syndrome	Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials	ORPHA:353253
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Kyphoscoliosis, Disproportionate short-limb short stature, Delayed ossification of carpal bones, ...	OMIM:271510
Aarskog-Scott Syndrome	Everted lower lip vermilion, Pectus excavatum, Long philtrum, Anteverted nares, Abnormality of th...	ORPHA:915
C Syndrome	Bilateral single transverse palmar creases, Dislocated radial head, Pectus excavatum, Trigonoceph...	ORPHA:1308
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Hyperactivity, Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal py...	OMIM:615924
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Microcephaly, Frontal bossing, Brachydactyly, Short distal phalanx of finger	ORPHA:2787
Spinocerebellar Ataxia 40	Broad-based gait, Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Unsteady gai...	OMIM:616053
Coffin-Lowry Syndrome	Abnormal form of the vertebral bodies, Pectus carinatum, Short metacarpal, Everted lower lip verm...	ORPHA:192
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Narrow greater sciatic notch, Disproportionate short-limb short stature, Femoral bowing, Flat ace...	OMIM:608728
Craniosynostosis, Herrmann-Opitz Type	Short nose, Finger syndactyly, Split hand, Micromelia, Micrognathia, Brachydactyly, Convex nasal ...	ORPHA:2145
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Non-midline cleft of the upp...	ORPHA:246
Orofaciodigital Syndrome Vi	Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,...	OMIM:277170
Achondrogenesis Type 1B	Short nose, Anteverted nares, Micromelia, Micrognathia, Short foot, Talipes equinovarus	ORPHA:93298
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 2nd finger, Broad thumb, Coxa valga, Scoliosis, Narrow vertebral interpedicul...	OMIM:620073
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Aplasia/hypoplasia of the humerus, Cervical ribs, Absent radius, Adducted thumb, Pat...	ORPHA:3320
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Short philtrum, Scoliosis, Abnormality of the dentition, Biparietal narrowing, Kyphosis, Microcep...	ORPHA:261190
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Pulmonary insufficiency, Congestive heart failure, Bell-shaped t...	OMIM:166210
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Bradykinesia, Babinski sign, Depression, Tremor, Parkinsonism with favorable response to dopamine...	ORPHA:314632
15Q24 Microdeletion Syndrome	Wide nasal base, Proximal placement of thumb, Kyphosis, Microcephaly, Abnormal toe morphology, Lo...	ORPHA:94065
Spinocerebellar Ataxia Type 28	Limb ataxia, Babinski sign, Memory impairment, Depression, Spasticity, Limb dystonia, Cognitive i...	ORPHA:101109
Autosomal Dominant Spastic Ataxia Type 1	Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Difficulty walking, Low...	ORPHA:251282
46,Xx Gonadal Dysgenesis	Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas...	ORPHA:243
Hamamy Syndrome	Everted lower lip vermilion, Pectus excavatum, Wide mouth, Syndactyly, Prolonged QRS complex, Lon...	OMIM:611174
Dystonia 28, Childhood-Onset	Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ...	OMIM:617284
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hypoplasia of the ulna, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Intraute...	ORPHA:1352
Van Maldergem Syndrome 1	Clinodactyly, Short 4th metacarpal, Scoliosis, Camptodactyly, Short fourth metatarsal, Malar flat...	OMIM:601390
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Early satiety, Intermittent diarrhea, Intestinal pseudo-obstruction, Gastroparesis, Ragged-red mu...	OMIM:603041
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Abnormal nasopharynx ...	OMIM:607323
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short...	ORPHA:168549
Premature Ovarian Failure 5	Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar...	OMIM:611548
Hurler Syndrome	Calvarial hyperostosis, Cardiomyopathy, Flared iliac wing, Microdontia, Kyphosis, Biconcave verte...	OMIM:607014
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Short long bone, Enlarged thorax, Aplasia/Hypoplasia involving the pelvis, Pectus excavatum, Hypo...	ORPHA:163654
Pyle Disease	Limited elbow extension, Reduced bone mineral density, Genu valgum, Cubitus valgus, Delayed erupt...	OMIM:265900
Pseudopseudohypoparathyroidism	Short 4th metacarpal, Short metatarsal, Ectopic ossification, Short stature, Obesity, Brachydacty...	ORPHA:79445
Mungan Syndrome	Gastroparesis, Intestinal pseudo-obstruction, Abdominal pain, Barrett esophagus, Hypoperistalsis,...	OMIM:611376
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Prominent occiput, Short ribs, Rel...	OMIM:617895
Robinow Syndrome, Autosomal Dominant 3	Kyphosis, Broad thumb, Mesomelia, Syndactyly, Long philtrum, Clinodactyly, Triangular mouth, Ante...	OMIM:616894
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Flared iliac wing, Flattened epiphysis, Broad palm, Short finger, Small epiphyses...	OMIM:300232
Short Syndrome	Radial deviation of finger, Premature skin wrinkling, Small for gestational age, Slender long bon...	OMIM:269880
Hypertrichosis Cubiti	Prominent nasal bridge, Rhizomelia, Micromelia	ORPHA:2220
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Sco...	ORPHA:88630
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Postnatal growth retardation, Flat occiput, Scoliosis, Bilateral talipes equinovarus, Hand clench...	ORPHA:319332
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Postnatal growth retardation, Short philtrum, Wide nose, Scoliosis, High palate, Intrauterine gro...	ORPHA:254531
Cardiofaciocutaneous Syndrome 1	Pectus carinatum, Relative macrocephaly, Pectus excavatum, Pulmonic stenosis, Splenomegaly, Deep ...	OMIM:115150
Temtamy Syndrome	Abnormal palate morphology, Thick lower lip vermilion, Clinodactyly of the 5th finger, Macrocepha...	ORPHA:1777
Osteoglosphonic Dysplasia	Abnormal clavicle morphology, Abnormal bone ossification, Rhizomelia, Abnormal form of the verteb...	ORPHA:2645
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
Spondylometaphyseal Dysplasia, Schmidt Type	Narrow greater sciatic notch, Kyphoscoliosis, Short long bone, Severe short stature, Abnormality ...	ORPHA:93316
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Hypoplastic sacrum, Short metacarpal, Hypoplastic pelvis, Microcephaly, Long philtrum, Short dist...	OMIM:614813
Van Maldergem Syndrome 2	Clinodactyly, Short 4th metacarpal, Scoliosis, Short fourth metatarsal, Ulnar deviation of the ha...	OMIM:615546
Aarskog-Scott Syndrome	Delayed puberty, Radial deviation of finger, Syndactyly, Broad philtrum, Joint hypermobility, Bro...	OMIM:305400
Yunis-Varon Syndrome	Bilateral single transverse palmar creases, Absent sternal ossification, Broad alveolar ridges, F...	OMIM:216340
Chondrodysplasia, Blomstrand Type	Flared metaphysis, Short ribs, Micromelia, Micrognathia, Advanced tarsal ossification, Advanced o...	OMIM:215045
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Distal lower limb muscle weakness, Handgrip myotonia, Weakness of long finger extensor muscles, W...	ORPHA:324442
Codas Syndrome	Short nose, Midline defect of the nose, Delayed eruption of teeth, Abnormal form of the vertebral...	ORPHA:1458
Ulna Metaphyseal Dysplasia Syndrome	Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal hip bone morphology, Abnorma...	ORPHA:1837
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t...	ORPHA:93267
Intellectual Developmental Disorder, Autosomal Dominant 21	Thin vermilion border, Incisor macrodontia, Narrow mouth, Short stature, Cleft palate, Long philt...	OMIM:615502
Spinocerebellar Ataxia Type 12	Bradykinesia, Limb dysmetria, Tremor by anatomical site, Poor fine motor coordination, Gait distu...	ORPHA:98762
Brachyolmia Type 1, Hobaek Type	Osteopenia, Short iliac bones, Squared-off platyspondyly, Platyspondyly, Flattened proximal radia...	OMIM:271530
Lujan-Fryns Syndrome	Brachycephaly, Macrocephaly, Short philtrum, Dental crowding, Scoliosis, High palate, Abnormality...	ORPHA:776
Sponastrime Dysplasia	Kyphoscoliosis, Disproportionate short-limb short stature, Short long bone, Relative macrocephaly...	ORPHA:93357
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Dental crowding, Pectus excavatum, Arachnodactyly, Paranasal sinus hy...	OMIM:300373
Grant Syndrome	Brachycephaly, Abnormal palate morphology, Abnormal cortical bone morphology, Narrow chest, Open ...	ORPHA:2097
Au-Kline Syndrome	Deep plantar creases, Retrognathia, Hypertension, Bifid nasal tip, Pectus excavatum, Bifid uvula,...	OMIM:616580
Occipital Horn Syndrome	Chronic diarrhea, Pectus carinatum, Broad clavicles, Limited knee extension, Kyphosis, Pectus exc...	OMIM:304150
Joubert Syndrome With Oculorenal Defect	Anteverted nares, Scoliosis, Biparietal narrowing, Foot polydactyly, Hand polydactyly, Prominent ...	ORPHA:2318
Aredyld Syndrome	Advanced eruption of teeth, Hepatomegaly, Craniofacial hyperostosis, Abnormal dental enamel morph...	ORPHA:1133
Three M Syndrome 1	Short ribs, Hyperlordosis, Pectus excavatum, Hypoplastic pelvis, Long philtrum, Short 5th finger,...	OMIM:273750
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Short finger, Irregular epiphyses, Rhizomelia, Barrel-shaped chest, Mandibular prognathia, Relati...	OMIM:612813
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Secondary amenorrhea, Short stature, Lumbar scoliosis, Lower limb undergrowth, Br...	OMIM:612847
Developmental And Epileptic Encephalopathy 73	Short nose, Narrow nasal bridge, Scoliosis, Failure to thrive, Flexion contracture, Hip dysplasia	OMIM:618379
Brody Disease	Flexion contracture, Percussion myotonia, Skeletal muscle hypertrophy, Myotonia	OMIM:601003
1Q44 Microdeletion Syndrome	Thin vermilion border, Scoliosis, Exaggerated cupid's bow, High palate, Biparietal narrowing, Mic...	ORPHA:238769
Multicentric Osteolysis, Nodulosis, And Arthropathy	Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contractu...	OMIM:259600
Spondyloepimetaphyseal Dysplasia, Irapa Type	Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral junction, Short metatarsal, Upp...	OMIM:271650
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Abnormal rib morphology, Craniofacial hyperostosis	ORPHA:2790
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor...	OMIM:311300
Weyers Ulnar Ray/Oligodactyly Syndrome	Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc...	OMIM:602418
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Delayed puberty, Pes cavus, Thick lower lip vermilion, Sandal gap, Mandibular prognathia, Relativ...	OMIM:300354
Thoracomelic Dysplasia	Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg...	ORPHA:1803
Hypertension And Brachydactyly Syndrome	Type E brachydactyly, Hypertension, Short metacarpal, Short stature, Short phalanx of finger, Con...	OMIM:112410
Pyknoachondrogenesis	Short iliac bones, Abdominal distention, Increased head circumference, Craniofacial hyperostosis,...	ORPHA:3003
Dystonia 12	Bradykinesia, Torticollis, Depression, Emotional lability, Tremor, Dystonia, Unsteady gait, Parki...	OMIM:128235
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short...	ORPHA:93396
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Depression, Tremor, Compulsive behaviors, Addictive alcohol use, Myo...	OMIM:159900
Wiedemann-Rautenstrauch Syndrome	Narrow nasal ridge, Short humerus, Hypoplastic facial bones, Dysphagia, Long philtrum, Intrauteri...	OMIM:264090
Proximal Spinal Muscular Atrophy	Distal lower limb muscle weakness, Weakness of facial musculature, Gastroesophageal reflux, Gastr...	ORPHA:70
Distal Duplication 18Q	Bilateral single transverse palmar creases, Short nose, Abnormal female external genitalia morpho...	ORPHA:1716
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle	OMIM:619011
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Hypoplasia of the ovary, Premature ovarian insufficiency, Osteosclerosis of the base of the skull	OMIM:609993
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent...	OMIM:614837
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Bifid uvula, Intrauterine growth retardation, Joint hypermobility, Clinodactyly, Short philtrum, ...	ORPHA:96184
Pallister-Hall-Like Syndrome	Short nose, Short ribs, Postaxial hand polydactyly, Micromelia, Micrognathia, Depressed nasal bri...	OMIM:241800
Thanatophoric Dysplasia, Glasgow Variant	Micromelia	OMIM:273680
Myopathy, X-Linked, With Excessive Autophagy	Muscle fiber necrosis, Skeletal muscle autophagosome accumulation, Skeletal muscle atrophy, Flexi...	OMIM:310440
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormal cortical bone morphology, Increased bone mineral density, Microcephaly, Sh...	ORPHA:2204
Beta-Mercaptolactate Cysteine Disulfiduria	Genu valgum, Sandal gap, Anteverted nares, Micromelia, Arachnodactyly, Convex nasal ridge	ORPHA:1035
Laron Syndrome	Delayed puberty, Delayed eruption of teeth, Prematurely aged appearance, Microdontia, Tooth agene...	ORPHA:633
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Macrocephaly, Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the maxi...	ORPHA:397973
Acromesomelic Dysplasia, Hunter-Thompson Type	Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Sc...	ORPHA:968
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Multiple Epiphyseal Dysplasia Type 1	Genu valgum, Knee joint hypermobility, Arthralgia of the hip, Delayed epiphyseal ossification, Sh...	ORPHA:93308
Rhiny	Short nose, Anteverted nares	OMIM:180360
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility	ORPHA:488191
C Syndrome	Radial deviation of finger, Dislocated radial head, Short metacarpal, Trigonocephaly, Microcephal...	OMIM:211750
Paget Disease Of Bone 2, Early-Onset	Vertebral compression fracture, Sandwich appearance of vertebral bodies, Premature loss of teeth,...	OMIM:602080
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Large for gestational age, Macrocephaly, Wide anterior fontanel, Anteverted nares, Pectus excavat...	OMIM:618272
Acrofacial Dysostosis, Catania Type	Spina bifida occulta, Single transverse palmar crease, Microcephaly, Short palm, Micrognathia, Ca...	OMIM:101805
Achondrogenesis	Anteverted nares, Micrognathia, Short nose, Micromelia	ORPHA:932
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ...	OMIM:615633
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Macrocephaly, Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the hume...	ORPHA:1275
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Reduced bone mineral density, Anemia, Pectus excavatum, Biparieta...	ORPHA:935
Distal 22Q11.2 Microduplication Syndrome	Microcephaly, Long philtrum, Short philtrum, Scoliosis, Biparietal narrowing, Frontal bossing, To...	ORPHA:261337
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short nose, Gastroesophageal reflux, Anteverted nares, Single transverse palmar crease, Glossopto...	OMIM:613604
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Retrognathia, Bowed humerus, Short clavicles, Elbow flexion contracture, Hypoplastic pelvis, Bila...	OMIM:618022
Blomstrand Lethal Chondrodysplasia	Broad clavicles, Short ribs, Short metacarpal, Mesomelia, Long philtrum, Abnormal epiphysis morph...	ORPHA:50945
Richieri Costa-Da Silva Syndrome	Distal lower limb muscle weakness, Handgrip myotonia, Generalized bone demineralization, Asymmetr...	ORPHA:3101
Thoracolaryngopelvic Dysplasia	Bell-shaped thorax, Hypoplastic iliac wing, Short ribs, Hypoplastic pelvis, Irregular chondrocost...	OMIM:187760
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Long nose, Dental crowding, Short long bone, Microcephaly, Intrauterine growth retardation, Oral-...	OMIM:619184
Rhizomelic Chondrodysplasia Punctata	Abnormal metaphysis morphology, Rhizomelia, Spina bifida occulta, Epiphyseal stippling, Scoliosis...	ORPHA:177
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Short stature, Dental malocclusion, Widely spaced teeth, Malar flattening	OMIM:616108
Femoral-Facial Syndrome	Aplasia/hypoplasia of the femur, Limited elbow movement, Pulmonic stenosis, Short humerus, Syndac...	OMIM:134780
Myofibrillar Myopathy 10	Ankle flexion contracture, Percussion myotonia, Mandibular prognathia, Elbow flexion contracture,...	OMIM:619040
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Brachydactyly	OMIM:612001
Thanatophoric Dysplasia	Abnormal metaphysis morphology, Macrocephaly, Abnormal ilium morphology, Narrow chest, Disproport...	ORPHA:2655
Joubert Syndrome 10	Macrocephaly, Tube feeding, Postaxial hand polydactyly, Decreased body weight, Feeding difficulti...	OMIM:300804
Arms, Malformation Of	Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis	OMIM:107900
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Brachycephaly, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Craniosynostosis	OMIM:614416
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Retrognathia, Small epiphyses, Scoliosis, Short long bone, Glossoptosis, Short stature, Lumbar sc...	OMIM:620269
Pseudopseudohypoparathyroidism	Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Short stature, Ename...	OMIM:612463
Smith-Magenis syndrome	Short stature, Brachydactyly	DECIPHER:8
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Long philtrum, Thick lower lip vermilion, Clinodactyly of the 5th finger, Bradycardia, Joint cont...	OMIM:614407
Craniometaphyseal Dysplasia, Autosomal Dominant	Cranial hyperostosis, Macrocephaly, Calvarial osteosclerosis, Flared metaphysis, Tooth malpositio...	OMIM:123000
Macrocephaly/Autism Syndrome	Short nose, Postnatal macrocephaly, Large for gestational age, Hepatomegaly, High palate, Biparie...	OMIM:605309
Gollop-Wolfgang Complex	Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ...	ORPHA:1986
Microcephaly, Short Stature, And Limb Abnormalities	Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ...	OMIM:617604
Spinocerebellar Ataxia, Autosomal Recessive 20	Kyphoscoliosis, Hepatomegaly, Wide nasal base, Delayed eruption of teeth, Dental crowding, Anteve...	OMIM:616354
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod...	ORPHA:2751
Mesomelic Dysplasia, Nievergelt Type	Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Clinodactyly of the 5th...	ORPHA:2633
Ulbright-Hodes Syndrome	Prominent occiput, Short ribs, Severe intrauterine growth retardation, Short metacarpal, Abnormal...	ORPHA:3404
Orofaciodigital Syndrome Ii	Bifid nasal tip, Pectus excavatum, Syndactyly, Metaphyseal irregularity, Accessory oral frenulum,...	OMIM:252100
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Short nose, Postnatal growth retardation, Hypospadias, Epiphyseal dysplasia, Metaphys...	OMIM:614732
Metaphyseal Anadysplasia	Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Abnormality of the lower li...	ORPHA:1040
Spinocerebellar Ataxia Type 15/16	Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A...	ORPHA:98769
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Microcephaly, Enamel hypoplasia, Downturned corners of mouth, Severe sho...	ORPHA:2643
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Pectus excavatum, Wide mouth, Long philtrum, Cone-shaped epiphysis, Short finger, Scoliosis, Exag...	OMIM:618659
Meckel Syndrome, Type 8	Polydactyly, Abdominal distention, Short nose, Narrow chest, Depressed nasal ridge, Microcephaly,...	OMIM:613885
Carpenter Syndrome	Polydactyly, Kyphoscoliosis, Genu valgum, Turricephaly, Finger syndactyly, Cloverleaf skull, Post...	ORPHA:65759
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Short nose, Abnormal oral cavity morphology, Hypospadias, Anteverted nares, Narrow mouth, Depress...	ORPHA:1355
Cleidocranial Dysplasia 2	Osteopenia, Supernumerary tooth, Plagiocephaly, Genu valgum, Delayed pubic bone ossification, Wid...	OMIM:620099
Ovarian Dysgenesis 10	Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f...	OMIM:619834
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Disproportionate short-limb short stature, Short long bone, Short ribs, Cupped ribs, Metaphyseal ...	OMIM:250420
Premature Aging Syndrome, Penttinen Type	Retrognathia, Tibial bowing, Aplasia of the nasal bone, Flexion contracture of finger, Thin calva...	OMIM:601812
Apert Syndrome	Limited elbow movement, Pectus carinatum, Brachyturricephaly, Broad thumb, Bifid uvula, Syndactyl...	OMIM:101200
Distal Deletion 17Q	Bilateral single transverse palmar creases, Abnormal thumb morphology, Hepatomegaly, Abnormal hip...	ORPHA:1597
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe...	ORPHA:1916
Anauxetic Dysplasia 1	Delayed ossification of carpal bones, Microdontia, Aortic valve stenosis, Severe short stature, I...	OMIM:607095
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Fibular bowing, Enlargement of the costochondral junction, Delayed epiphyseal ossificati...	OMIM:600081
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limited elbow extension, Disproportionate short-limb short stature, Pectus excavatum, Short statu...	ORPHA:156728
Liebenberg Syndrome	Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia...	OMIM:186550
Acromesomelic Dysplasia 1	Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Sh...	OMIM:602875
Intestinal Dysmotility Syndrome	Abdominal distention, Diarrhea, Projectile vomiting, High palate, Decreased intestinal transit ti...	OMIM:620045
Epilepsy, Progressive Myoclonic, 6	Difficulty walking, Memory impairment, Tremor, Elevated circulating creatine kinase concentration...	OMIM:614018
Spinocerebellar Ataxia 12	Progressive cerebellar ataxia, Axial dystonia, Depression, Dysdiadochokinesis, Head tremor, Actio...	OMIM:604326
Brachydactyly Type E	Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Macrocephaly, Short...	ORPHA:93387
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Dental crowding, Hypertension, Sinus tachycardia, Osteolysis, Scoliosis, ...	OMIM:614008
Potocki-Shaffer Syndrome	Brachycephaly, Short nose, Turricephaly, Short philtrum, Parietal foramina, Single transverse pal...	OMIM:601224
Acromesomelic Dysplasia 4	Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities...	OMIM:619636
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Weiss-Kruszka Syndrome	Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb, Single transverse palmar...	ORPHA:502430
Restrictive Dermopathy 2	Gastroesophageal reflux, Short clavicles, Overtubulated long bones, Hypoplastic facial bones, Fee...	OMIM:619793
Myotonia Permanens	Skeletal muscle hypertrophy, Limitation of joint mobility, Generalized muscle hypertrophy, Myoton...	ORPHA:99735
Cohen Syndrome	Delayed puberty, Abnormal hip bone morphology, Sandal gap, Pectus excavatum, Kyphosis, Tooth agen...	ORPHA:193
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed puberty, Decreased response to growth hormone stimulation test, Short philtrum, Delayed e...	OMIM:615866
Visceral Myopathy 1	Abdominal distention, Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Int...	OMIM:155310
Spinocerebellar Ataxia, Autosomal Recessive 4	Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Micr...	OMIM:607317
Mucopolysaccharidosis, Type Vii	Narrow greater sciatic notch, Pectus carinatum, Large iliac wing, Cardiomyopathy, Kyphosis, Pectu...	OMIM:253220
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Postnatal growth retardation, Acromicria, Relative macrocephaly, Short foot, Feeding difficulties...	ORPHA:254525
Spinocerebellar Ataxia 48	Babinski sign, Irritability, Depression, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinson...	OMIM:618093
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Femoral bowing, Short metacarpal, Craniosynostosis, Overlapping toe, Small epiphyses, Scoliosis, ...	OMIM:616723
Zebra Body Myopathy	Muscle fiber splitting, Handgrip myotonia, Torticollis, Rimmed vacuoles, Autophagic vacuoles, EMG...	ORPHA:97240
Spondyloepiphyseal Dysplasia Tarda	Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse...	ORPHA:93284
Phenylketonuria	Lower limb spasticity, Depression, Tremor, Hyperphenylalaninemia, Short attention span, Microceph...	ORPHA:716
Bardet-Biedl Syndrome 18	Obesity, Brachydactyly	OMIM:615995
Spinocerebellar Ataxia, Autosomal Recessive 16	Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cognitive impairment, Unsteady ga...	OMIM:615768
Coffin-Siris Syndrome 2	Long philtrum, Thick lower lip vermilion, Sandal gap, Short philtrum, Delayed eruption of teeth, ...	OMIM:614607
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Long foot, Macrocephaly, Narrow chest, Pectus carinatum, Mandibular prognathia, Scoliosis, High p...	OMIM:300676
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Tip-toe gait, Generalized dystonia, Inability to walk, Spasticity, Frequent f...	ORPHA:216866
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Pectus carinatum, Microcephaly, Cutis marmorata, Syndactyly, Enamel agenesis, Long philtrum, Ante...	OMIM:614701
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Hajdu-Cheney Syndrome	Kyphoscoliosis, Dislocated radial head, Biconcave vertebral bodies, Crowded carpal bones, Long ph...	OMIM:102500
Glutamine Deficiency, Congenital	Short nose, Anteverted nares, Camptodactyly, Micromelia, Wide nasal bridge, Depressed nasal bridge	OMIM:610015
Distal Limb Deficiencies-Micrognathia Syndrome	Tarsal synostosis, Macrocephaly, Abnormal metacarpal morphology, Abnormality of the wrist, Aplasi...	ORPHA:1307
Coffin-Siris Syndrome 6	Kyphoscoliosis, Retrognathia, High, narrow palate, Plagiocephaly, Short philtrum, Gastroesophagea...	OMIM:617808
Osseous Heteroplasia, Progressive	Ectopic ossification in muscle tissue, Limb undergrowth	OMIM:166350
Dystonia, Dopa-Responsive	Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Transient hyperphenylalaninemia, Restin...	OMIM:128230
Rippling Muscle Disease 1	Skeletal muscle hypertrophy, Percussion-induced rapid rolling muscle contractions, Muscle mounding	OMIM:600332
Charlie M Syndrome	Thin vermilion border, Triphalangeal thumb, Abnormal metacarpal morphology, Short philtrum, Finge...	ORPHA:1406
Moebius Syndrome	Radial deviation of finger, Bifid uvula, Syndactyly, Dysphagia, Abnormal nasopharynx morphology, ...	OMIM:157900
Parkinson Disease 22, Autosomal Dominant	Bradykinesia, Resting tremor, Depression, Parkinsonism with favorable response to dopaminergic me...	OMIM:616710
Lower Motor Neuron Syndrome With Late-Adult Onset	Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Elevated circulating creatine k...	ORPHA:276435
Atelosteogenesis Type Iii	Short tubular bones of the hand, Abnormal cervical curvature, Thoracic hypoplasia, Absent radius,...	ORPHA:56305
Lethal Osteosclerotic Bone Dysplasia	Retrognathia, Short nose, Gingival fibromatosis, Anteverted nares, Gingival overgrowth, Mandibula...	ORPHA:1832
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing, Babinski sign, Hypertonia, Oromandibular dystonia, Writer's cramp, Torticolli...	OMIM:128100
Faciocardiomelic Syndrome	Osteopenia, Polydactyly, Hyperplasia of the maxilla, Large for gestational age, Narrow chest, Sle...	OMIM:612731
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Abnormal thumb morphology, Postnatal growth retardation, Radial club hand...	ORPHA:959
Hemifacial Atrophy, Progressive	Short mandibular rami, Dental malocclusion, Tongue atrophy, Delayed eruption of teeth	OMIM:141300
Myopathy, Myofibrillar, 8	Pes cavus, Dental malocclusion, Joint contracture of the 5th finger, Scoliosis, High palate, Scap...	OMIM:617258
Cerebellofaciodental Syndrome	Genu valgum, Clinodactyly of the 5th finger, Dental malocclusion, Slender long bone, Single trans...	OMIM:616202
Verheij Syndrome	Retrognathia, Long philtrum, Short nose, Small for gestational age, Anteverted nares, Scoliosis, ...	OMIM:615583
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Osteoarthritis of the elbow, Abnormality of the wrist, Abnormal femoral head morpholo...	ORPHA:2619
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Stillbirth, Scoliosis, Short long bone, Bowing of the long bones, Pulmo...	OMIM:619751
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Bradykinesia, Memory impairment, Falls, Depression, Tremor, Parkinsonism with favorable response ...	ORPHA:240085
Frontonasal Dysplasia 1	Short columella, Joint contracture of the hand, Radial deviation of finger, Pectoral muscle hypop...	OMIM:136760
Cockayne Syndrome A	Square pelvis bone, Hypoplastic iliac wing, Hypertension, Kyphosis, Hypoplastic pelvis, Microceph...	OMIM:216400
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Spinocerebellar Ataxia Type 38	Tremor, Difficulty walking, Gait ataxia	ORPHA:423296
Spondyloepiphyseal Dysplasia, Kimberley Type	Micromelia	ORPHA:93283
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Trigonocephaly, Syndactyly, Craniosynostosis, Abnormal calvaria morphology, Postaxia...	OMIM:175700
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormal form of the vertebral bo...	ORPHA:3104
Brachydactyly-Arterial Hypertension Syndrome	Hypertension, Short metacarpal, Short stature, Short phalanx of finger, Brachydactyly	ORPHA:1276
Tonne-Kalscheuer Syndrome	Convex nasal ridge, Widely spaced teeth, Narrow mouth, Prominent nose, Broad thumb, Microcephaly,...	OMIM:300978
Lowry-Wood Syndrome	Limited elbow extension, Clinodactyly of the 5th finger, Irregular epiphyses, Small epiphyses, El...	OMIM:226960
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait	ORPHA:494526
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Anterior hypopituit...	ORPHA:2235
Frank-Ter Haar Syndrome	Beaking of vertebral bodies, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Shor...	ORPHA:137834
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Parkinson Disease 15, Autosomal Recessive Early-Onset	Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m...	OMIM:260300
Segawa Syndrome, Autosomal Recessive	Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop...	OMIM:605407
Spondylometaphyseal Dysplasia, Axial	Narrow greater sciatic notch, Rhizomelia, Narrow chest, Scoliosis, Coxa vara, Short stature, Ante...	OMIM:602271
Dyskinesia, Limb And Orofacial, Infantile-Onset	Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait	OMIM:616921
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-...	ORPHA:199306
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Progressive microcephaly, Spas...	ORPHA:521406
Fanconi Anemia	Reduced bone mineral density, Abnormal femur morphology, Abnormality of the upper limb, Microceph...	ORPHA:84
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Fasciculations, Tremor, Loss of ambulation	OMIM:182980
Fountain Syndrome	Abnormal form of the vertebral bodies, Everted lower lip vermilion, Kyphosis, Pectus excavatum, C...	ORPHA:3219
Congenital-Onset Steinert Myotonic Dystrophy	Encopresis, Gastroesophageal reflux, Facial hypotonia, Diarrhea, Abdominal pain, Constipation, My...	ORPHA:589821
Trichorhinophalangeal Syndrome Type 2	Bilateral single transverse palmar creases, Abnormal palate morphology, Supernumerary tooth, Genu...	ORPHA:502
Pfeiffer Syndrome	Short nose, Cloverleaf skull, 3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of...	OMIM:101600
Chromosome 2Q37 Deletion Syndrome	Brachycephaly, Type E brachydactyly, Wide nose, Anteverted nares, Short metacarpal, Short fourth ...	OMIM:600430
Dentinogenesis Imperfecta, Shields Type Iii	Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p...	OMIM:125500
Hyperprolactinemia	Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility	OMIM:615555
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic...	ORPHA:3344
Rippling Muscle Disease 2	Skeletal muscle hypertrophy, Percussion-induced rapid rolling muscle contractions, Muscle moundin...	OMIM:606072
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Lateral clavicle hook, Orofacial cleft, Genu valgum, Hepatomegaly, Bell-shaped thorax, Cone-shape...	OMIM:615630
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Pectus carinatum, Short long bone, Short ribs, Mesomeli...	OMIM:263520
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Thick lower lip vermilion, Hypoplasia of penis, Bifid scrotum, Everted lower lip vermilion, Abnor...	ORPHA:85321
Brachydactyly, Type B1	Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti...	OMIM:113000
Laron Syndrome	Delayed menarche, Short long bone, Limb undergrowth, Severe short stature	OMIM:262500
Spastic Ataxia 2, Autosomal Recessive	Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head...	OMIM:611302
Difference Of Sex Development-Intellectual Disability Syndrome	Thin vermilion border, Short nose, Reduced bone mineral density, Genu valgum, Spina bifida occult...	ORPHA:2983
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Acetazolamide-Responsive Myotonia	Skeletal muscle hypertrophy, Myotonia, Dysphagia	ORPHA:99736
Congenital Disorder Of Glycosylation, Type Iic	Periodontitis, Reduction of neutrophil motility, Microcephaly, Short stature, Neutrophilia, Brach...	OMIM:266265
Weyers Acrofacial Dysostosis	Clinodactyly of the 5th finger, Solitary median maxillary central incisor, Conical tooth, Postaxi...	OMIM:193530
Temple Syndrome	Bifid uvula, Joint hypermobility, Intrauterine growth retardation, Clinodactyly, Short philtrum, ...	OMIM:616222
Congenital Disorder Of Glycosylation, Type Iig	Kyphoscoliosis, Progressive microcephaly, Short long bone, Glossoptosis, Microcephaly, Broad femo...	OMIM:611209
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl...	ORPHA:488650
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Pec...	OMIM:620662
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Ankle flexion contracture, Cyanotic episode, Bilateral talipes equinovarus, Failure to thrive in ...	ORPHA:284417
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachycephaly, Abnormal palate morphology, Turricephaly, Abnormal metacarpal morphology, Abnormal...	ORPHA:93262
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Scoliosis, Amelia, Cleft upper lip, Foot oligodactyly, Short femur, Bilat...	OMIM:601357
Neurodegeneration With Brain Iron Accumulation 3	Bradykinesia, Babinski sign, Writer's cramp, Subcortical dementia, Chorea, Spasticity, Tremor, Bl...	OMIM:606159
Proteasome-Associated Autoinflammatory Syndrome 1	Premature graying of hair, Flexion contracture of toe, Recurrent sinusitis, Flexion contracture o...	OMIM:256040
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Meckel Syndrome 14	Retrognathia, Abdominal distention, Talipes, Anteverted nares, Postaxial hand polydactyly, Bowing...	OMIM:619879
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor, Gait disturbance	OMIM:611808
Robinow Syndrome, Autosomal Recessive 2	Sandal gap, Prominent fingertip pads, Relative macrocephaly, Broad thumb, Mesomelia, Long philtru...	OMIM:618529
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Thin vermilion border, Short nose, Hypospadias, Anteverted nares, Bowing of the long bones, Short...	ORPHA:171839
Rubinstein-Taybi Syndrome 1	Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Den...	OMIM:180849
Mucolipidosis Type Iv	Genu recurvatum, Everted lower lip vermilion, Microdontia, Biparietal narrowing, Microcephaly, Ab...	ORPHA:578
Achondrogenesis Type 2	Abnormal bone ossification, Delayed pubic bone ossification, Narrow chest, Short long bone, Short...	ORPHA:93296
Andersen-Tawil Syndrome	Clinodactyly of the 5th toe, Prolonged QT interval, Polymorphic ventricular tachycardia, Prominen...	ORPHA:37553
Ulnar-Mammary Syndrome	Delayed puberty, Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd ...	OMIM:181450
14Q11.2 Microdeletion Syndrome	Short nose, Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow mouth, Toe ...	ORPHA:261120
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Metacarpal osteolysis, Ankle swelling, Pes cavus, Wrist swelling, Carpal osteolysis, ...	OMIM:166300
Pycnodysostosis	Narrow palate, Prominent occiput, Increased bone mineral density, Absent frontal sinuses, Narrow ...	OMIM:265800
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,...	OMIM:602111
Meier-Gorlin Syndrome 1	Absent sternal ossification, Pectus carinatum, Short ribs, Microdontia, Microcephaly, Intrauterin...	OMIM:224690
Emery-Nelson Syndrome	Abnormal thumb morphology, Metacarpophalangeal joint contracture, High palate, Camptodactyly of f...	ORPHA:1927
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Short nose, Hepatomegaly, Progressive microcephaly, Scoliosis, High palate, Trigonoce...	ORPHA:329178
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Pectus excavatum, Microcephaly, Short distal phalanx of finger, Talipes calcaneovarus, Furrowed t...	OMIM:300534
Schimke Immunoosseous Dysplasia	Hypertension, Cerebral ischemia, Microdontia, Lymphopenia, Intrauterine growth retardation, Neutr...	OMIM:242900
Cerebellar-Facial-Dental Syndrome	Taurodontia, Foot joint contracture, Slender long bone, Anteverted nares, Scoliosis, Single trans...	ORPHA:444072
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,...	ORPHA:206549
Cockayne Syndrome B	Square pelvis bone, Hypoplastic iliac wing, Hypertension, Kyphosis, Hypoplastic pelvis, Microceph...	OMIM:133540
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Short nose, Hypoplastic female external genitalia, Anteverted nares, Scoliosis, Micrognathia, Uln...	OMIM:618577
Yunis-Varon Syndrome	Rocker bottom foot, Broad secondary alveolar ridge, Absent sternal ossification, Abnormal finger ...	ORPHA:3472
Laurin-Sandrow Syndrome	Absent tibia, Fibular duplication, Absent radius, Tarsal synostosis, Abnormal metacarpal morpholo...	ORPHA:2378
Chung-Jansen Syndrome	Long philtrum, Thin vermilion border, Short nose, Clinodactyly of the 5th finger, Short philtrum,...	OMIM:617991
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Triphalangeal thumb, Conical tooth, Absent middle phalanx of 5th finger, Selective tooth agenesis...	OMIM:124480
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Platyspondyly, Delayed eruption of teeth, Pancytopenia, Vasculitis, ...	ORPHA:1855
Myotonia, Potassium-Aggravated	Handgrip myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia, Skeletal muscle at...	OMIM:608390
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Turricephaly, Cone-shaped epiphyses of the phalanges of the hand, S...	OMIM:250220
Schwartz-Jampel Syndrome, Type 1	Kyphoscoliosis, Flexion contracture of toe, Pectus carinatum, Wrist flexion contracture, Anterior...	OMIM:255800
Chromosome 3Pter-P25 Deletion Syndrome	Retrognathia, Trigonocephaly, Microcephaly, Long philtrum, Overlapping toe, Intrauterine growth r...	OMIM:613792
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Narrow greater sciatic notch, Kyphoscoliosis, Dislocated radial head, Progressive microcephaly, D...	OMIM:617425
Chromosome 6Q11-Q14 Deletion Syndrome	Long philtrum, Pes cavus, Sacral dimple, Short nose, Single transverse palmar crease, High palate...	OMIM:613544
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Genu valgum, Abnormal metacarpal morphology, Hypoplasia ...	ORPHA:1295
Progressive Pseudorheumatoid Arthropathy Of Childhood	Wrist swelling, Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand ...	ORPHA:1159
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Mesomelic/rhizomelic limb shortening, Abnormal rib morphology, Na...	ORPHA:1354
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Spasticity, Abnormal digit morphology, Micro...	ORPHA:208441
Faciodigitogenital Syndrome, Autosomal Recessive	Wide mouth, Syndactyly, Narrow palate, Anteverted nares, Camptodactyly, Proportionate short statu...	OMIM:227330
Hypermanganesemia With Dystonia 2	Limb dystonia, Microcephaly, Lower limb hypertonia, Opisthotonus, Clumsiness, Hypermanganesemia, ...	OMIM:617013
Spinocerebellar Ataxia Type 31	Spasticity, Tremor, Gait ataxia	ORPHA:217012
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of the nose, Retrognathia, Abnormal palate morphology, Clinodactyly of the 5th finger...	ORPHA:1390
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:300106
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Vertebral compression fracture, Narrow chest, Angulated humerus, Short lo...	OMIM:616229
Corticobasal Syndrome	Bradykinesia, Akinesia, Limb apraxia, Dementia, Memory impairment, Progressive extrapyramidal mus...	ORPHA:454887
Tetrasomy 9P	Bilateral single transverse palmar creases, Abnormal number of permanent teeth, Biliary atresia, ...	ORPHA:3310
Pseudohypoparathyroidism, Type Ia	Short finger, Short metatarsal, Delayed eruption of teeth, Short metacarpal, Subcutaneous ossific...	OMIM:103580
17P13.3 Microduplication Syndrome	Short nose, Clinodactyly of the 5th finger, Wide nose, Hypoplasia of penis, Narrow mouth, High pa...	ORPHA:217385
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Calf muscle hypertrophy, Upper limb muscle weakness, Joint stiffness, Proximal amyotrophy, Myoton...	ORPHA:209335
46,Xy Sex Reversal 11	Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of...	OMIM:273250
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Tremor, Short attention span, Impulsivity, Oppositional defiant disorder, ...	OMIM:619028
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Kyphoscoliosis, Delayed puberty, Long philtrum, Joint hypermobility, Intrauterine growth retardat...	ORPHA:391408
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Bilateral coxa valga, Tremor, Limb dystonia, Ataxia, Aggressive behavior	OMIM:620270
Bartsocas-Papas Syndrome 1	Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly, Absent palmar c...	OMIM:263650
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level	OMIM:619009
Arthrogryposis, Distal, Type 2A	Rocker bottom foot, Kyphoscoliosis, Flexion contracture of toe, Dental crowding, Wrist flexion co...	OMIM:193700
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Disproportionate short-limb short stature, Pectus carinatum, Triangular shaped distal phalanges o...	OMIM:271665
Oliver Syndrome	Clinodactyly of the 5th finger, Short philtrum, Mandibular prognathia, Prominent fingertip pads, ...	ORPHA:2920
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Broad finger, Pectus carinatum, Upturned corners of mouth, Pectus excavatum, Short phalanx of fin...	OMIM:614684
Brachytelephalangic Chondrodysplasia Punctata	Short distal phalanx of toe, Short distal phalanx of finger, Butterfly vertebrae, Cervical spinal...	ORPHA:79345
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:98855
Feingold Syndrome 2	Secondary microcephaly, Postnatal growth retardation, 2-3 toe syndactyly, Short middle phalanx of...	OMIM:614326
Takenouchi-Kosaki Syndrome	Proximal placement of thumb, Progressive microcephaly, Abnormal sternum morphology, Pulmonic sten...	OMIM:616737
Osteofibrous Dysplasia, Susceptibility To	Fibular hypoplasia, Pectus excavatum, Pseudoarthrosis	OMIM:607278
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk, Stereotypical hand wringing	OMIM:619561
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Disproportio...	ORPHA:175
Acrofacial Dysostosis, Catania Type	Bilateral single transverse palmar creases, Abnormal palate morphology, Short nose, Clinodactyly ...	ORPHA:1786
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Lower limb spasticity, Broad-based gait, ...	ORPHA:3077
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Mental deterioration, Myoclonus	OMIM:616187
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se...	ORPHA:90796
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Babinski sign, Bradykinesia, Progressive extrapyramidal muscular rigidity, Ch...	ORPHA:225147
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Retrognathia, Plagiocephaly, Slender long bone, Thin ribs, Decreased body weight, Decreased calva...	OMIM:618265
Smith-Magenis Syndrome	Delayed puberty, Abnormal form of the vertebral bodies, Microcephaly, Delayed eruption of primary...	ORPHA:819
Chst3-Related Skeletal Dysplasia	Kyphoscoliosis, Genu valgum, Irregular epiphyses, Rhizomelia, Small epiphyses, Delayed eruption o...	ORPHA:263463
Jansen-De Vries Syndrome	Gastroesophageal reflux, Anteverted nares, Parietal foramina, Hyperlordosis, Short foot, Vomiting...	OMIM:617450
Weill-Marchesani Syndrome 2	Flexion contracture of toe, Broad skull, Short metacarpal, Broad metatarsal, Pulmonic stenosis, A...	OMIM:608328
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Long philtrum, ...	OMIM:265000
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short nose, Rhizomelia, Short philtrum, Hypoplastic iliac wing, Abnormality of the calcaneus, Int...	ORPHA:163966
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Retrognathia, Sandal gap, Dental crowding, Pectus excavatum, Kyphosis, Microcephaly, Dysphagia, L...	OMIM:617061
Alopecia-Intellectual Disability Syndrome	Scoliosis, Split hand, Hypergonadotropic hypogonadism, Microcephaly, Short stature, Growth delay,...	ORPHA:2850
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Abnormality of the hand, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda...	OMIM:246570
Meier-Gorlin Syndrome 5	Gastroesophageal reflux, Slender long bone, Birth length less than 3rd percentile, Intrauterine g...	OMIM:613805
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Diaphanospondylodysostosis	Absent in utero rib ossification, Short nose, Hammertoe, Abnormal liver lobulation, Bell-shaped t...	OMIM:608022
Pentasomy X	Plagiocephaly, Clinodactyly of the 5th finger, Radioulnar synostosis, Camptodactyly of finger, Mi...	ORPHA:11
Symphalangism, Distal	Distal symphalangism of hands, Absent dorsal skin creases over affected joints, Brachydactyly, Cr...	OMIM:185700
Wiedemann-Rautenstrauch Syndrome	Kyphoscoliosis, Retrognathia, Relative macrocephaly, Cranial asymmetry, Severe intrauterine growt...	ORPHA:3455
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Myopathy, Centronuclear, X-Linked	Macrocephaly, Tube feeding, High palate, Arachnodactyly, Dolichocephaly, Dental malocclusion, Sle...	OMIM:310400
Spinocerebellar Ataxia Type 27	Limb ataxia, Akinesia, Difficulty walking, Memory impairment, Depression, Truncal ataxia, Tremor,...	ORPHA:98764
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short nose, Anteverted nares, Short distal phalanx of toe, Narrow mouth, Microdontia, Bilateral t...	OMIM:619356
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Epiphyseal Dysplasia, Baumann Type	Genu valgum, Clinodactyly of the 5th finger, Carpal bone aplasia, Hypoplasia of the femoral head,...	OMIM:610797
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Delayed epiphyseal...	ORPHA:785
Intellectual Developmental Disorder, Autosomal Dominant 59	Macrocephaly, Short stature, Short palm, Brachydactyly, Long philtrum, Short foot, Mild short sta...	OMIM:618522
Estrogen Resistance	Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre...	OMIM:615363
Immunodeficiency 77	Gastroparesis	OMIM:619223
Distal Deletion 10Q	Sandal gap, Prominent fingertip pads, Pectus excavatum, Microcephaly, Craniosynostosis, Clinodact...	ORPHA:96148
Ring Chromosome 8 Syndrome	Deviation of finger, Short nose, Anteverted nares	ORPHA:1450
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Sandal gap, Conical tooth, Oligodontia, Thick nasal alae, Microdontia, Persistence of primary tee...	OMIM:618727
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Kyphoscoliosis, Everted lower lip vermilion, Hypogonadism, Short philtrum, 4-5 toe syndactyly, Br...	ORPHA:3041
Craniofacial-Deafness-Hand Syndrome	Short nose, Abnormality of the wrist, Narrow mouth, Depressed nasal ridge, Hypoplasia of the maxi...	ORPHA:1529
Primary Dystonia, Dyt13 Type	Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio...	ORPHA:98807
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Short long bone, Hyperlordosis, Metaphyseal irregularity, Long philtrum, Hip dislocation, Short t...	OMIM:616007
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Scoliosis, Vertebral segmentation defect, Abnormality of the hum...	ORPHA:1570
Rubinstein-Taybi Syndrome	Convex nasal ridge, Clinodactyly of the 5th finger, Finger syndactyly, High palate, Abnormality o...	ORPHA:783
Meier-Gorlin Syndrome 4	Lateral clavicle hook, Thick lower lip vermilion, Slender long bone, Genu recurvatum, Narrow mout...	OMIM:613804
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Lateral clavicle hook, Preaxial polydactyly, Macrocephaly, Narrow chest, Short long bone, Femoral...	OMIM:615503
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Hyperlordosis, Cardiomyopathy, Kyphosis, Dysphagia, Spleno...	ORPHA:354
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
16P12.1P12.3 Triplication Syndrome	Retrognathia, Long philtrum, Thin vermilion border, High, narrow palate, Short nose, Abnormal int...	ORPHA:485405
Satb2-Associated Syndrome Due To A Pathogenic Variant	Osteopenia, Abnormality of the hand, Postnatal growth retardation, Clinodactyly of the 5th finger...	ORPHA:576283
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Genu valgum, Narrow mouth, Epiphyseal dysplasia, Short phalanx of finger, Short stature, Brachyda...	OMIM:132450
Meckel Syndrome 12	Rocker bottom foot, Micrognathia, Bifid uvula, Vaginal atresia, Intrauterine growth retardation, ...	OMIM:616258
Progressive Supranuclear Palsy-Corticobasal Syndrome	Bradykinesia, Limb apraxia, Apraxia, Memory impairment, Progressive extrapyramidal muscular rigid...	ORPHA:240103
Clark-Baraitser Syndrome	Short nose, Short philtrum, Sandal gap, Low hanging columella, Anteverted nares, Exaggerated cupi...	OMIM:617752
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Gastrointestinal hemorrhage, Pectus excavatum, Dysphagia, Cervical ribs, Long...	ORPHA:508488
Episodic Ataxia Type 1	Nausea, Calf muscle hypertrophy, Myotonia	ORPHA:37612
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Anteverted nares, Scoliosis, Biparietal narrowing, Microcephaly, Short stature, Intrauterine grow...	ORPHA:2518
Coloboma Of Macula With Type B Brachydactyly	Absent distal phalanges, Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal ph...	OMIM:120400
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Spasticity, Tremor, Dystonia, Dysphagia, Mental deterioration	OMIM:304700
Temple Syndrome	Postnatal growth retardation, Clinodactyly of the 5th finger, Scoliosis, Relative macrocephaly, F...	ORPHA:254516
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Severe failure to thrive, Hypoplastic nasal tip, Clubbing of fingers, Single transverse palmar cr...	ORPHA:3304
Pfeiffer Syndrome	Turricephaly, Clinodactyly of the 5th finger, Short philtrum, Finger syndactyly, Mandibular progn...	ORPHA:710
Leri Pleonosteosis	Abnormal metaphysis morphology, Cubitus valgus, Abnormal metacarpal morphology, Abnormal form of ...	ORPHA:2900
Teebi Hypertelorism Syndrome 2	Short nose, Clinodactyly of the 5th finger, Hypospadias, Delayed eruption of teeth, Wide anterior...	OMIM:619736
Geroderma Osteodysplasticum	Kyphoscoliosis, Femoral bowing, Tibial bowing, Microcephaly, Biconcave vertebral bodies, Severe s...	OMIM:231070
Hypophosphatasia, Infantile	Anorexia, Stillbirth, Anemia, Unossified vertebral bodies, Disproportionate short-limb short stat...	OMIM:241500
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Abnormal vertebral morphology, Proximal placement of thumb, Hand polydactyly, Short humerus, Neon...	OMIM:314390
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Polydactyly, Postnatal growth retardation, Clinodactyly of the 5th finger, Dental crowding, Relat...	ORPHA:231140
Developmental And Epileptic Encephalopathy 66	Widely spaced teeth, Clinodactyly of the 5th finger, Everted lower lip vermilion, Downturned corn...	OMIM:618067
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Long nose, Aplasia/hypoplasia involving bones of the upper limbs, Short metacarp...	ORPHA:221016
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Abdominal distention, Hepatomegaly, Anemia, Diarrhea, Cholestasis, Camp...	OMIM:608104
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Vertebral wedging, Single transverse palmar crease, 2-3 toe s...	OMIM:617866
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Fibular bowing, Enlargement of the costochondral junction, Del...	OMIM:241530
Ohdo Syndrome	Long philtrum, Thin vermilion border, Widely spaced teeth, Clinodactyly of the 5th finger, Small ...	OMIM:249620
Kury-Isidor Syndrome	Rocker bottom foot, Brachycephaly, Widely spaced teeth, Proximal placement of thumb, Triangular m...	OMIM:619762
Auriculocondylar Syndrome 1	Anterior open-bite malocclusion, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Na...	OMIM:602483
Heart-Hand Syndrome, Spanish Type	Sick sinus syndrome, Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd fi...	OMIM:140450
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Gastroparesis, Gastroesophageal reflux, Facial palsy, Limb muscle weakness, Constipation	OMIM:610131
Brachyolmia Type 1, Toledo Type	Kyphoscoliosis, Abnormal odontoid process morphology, Squared-off platyspondyly, Precocious costo...	OMIM:271630
Occipital Horn Syndrome	Gastroparesis, Pectus carinatum, Large iliac wing, Cholestasis, Absent tibia, Kyphosis, Pectus ex...	ORPHA:198
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:98863
Leydig Cell Hypoplasia	Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal...	ORPHA:755
Vitamin K Antagonist Embryofetopathy	Short nose, Epiphyseal stippling, Anteverted nares, Choanal atresia, Punctate vertebral calcifica...	ORPHA:1914
Cardioacrofacial Dysplasia 1	Genu valgum, Short philtrum, Conical tooth, Long thorax, Postaxial polydactyly, Hypoplasia of the...	OMIM:619142
Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:98853
Brachydactyly, Type E2	Short metatarsal, Delayed eruption of teeth, Oligodontia, Short metacarpal, Short stature, Brachy...	OMIM:613382
Dyssegmental Dysplasia, Silverman-Handmaker Type	Narrow chest, Clubbing of fingers, Hypoplastic pubic bone, Short long bone, Short ribs, Hypoplast...	ORPHA:1865
Saul-Wilson Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Short metacarpal, Pectus ex...	OMIM:618150
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Bardet-Biedl Syndrome 4	Polydactyly, Abnormality of the dentition, Obesity, Syndactyly, Brachydactyly, Hypogonadism	OMIM:615982
Infantile Systemic Hyalinosis	Osteopenia, Steatorrhea, Macrocephaly, Chronic diarrhea, Gingival overgrowth, Osteoporosis, Micro...	ORPHA:2176
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Osteolytic defects of the phalanges of the hand, Gastr...	ORPHA:90291
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim...	OMIM:600785
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Hyperactivity, Tremor, Spastic tetraparesis, Microcephaly, Motor stereotypy, Ag...	OMIM:619470
Premature Ovarian Failure 10	Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,...	OMIM:612885
2q37 monosomy	Thin upper lip vermilion, Brachydactyly	DECIPHER:44
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, High palate, Hypergonadotropic hypogonadism, Microg...	OMIM:154230
Sialuria	Macrocephaly, Hepatomegaly, 2-3 toe syndactyly, Scoliosis, High palate, Frontal bossing, Long hal...	OMIM:269921
Hyperkalemic Periodic Paralysis	Skeletal muscle hypertrophy, Bowel incontinence, Feeding difficulties in infancy, Flexion contrac...	ORPHA:682
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:204700
Short Stature, Dauber-Argente Type	Osteopenia, Postnatal growth retardation, Reduced bone mineral density, Delayed eruption of teeth...	OMIM:619489
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the philtrum, High palate, Tooth...	ORPHA:2863
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Long nose, Limited elbow movement, Enlarged metaphyses, Short metac...	ORPHA:508533
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Short metacarpal, Microdontia, Tooth agenesis, Hypogonadism, Plantar hyperkerato...	ORPHA:221008
Smith-Magenis Syndrome	Brachycephaly, Orofacial cleft, Everted upper lip vermilion, Mandibular prognathia, Increased bod...	OMIM:182290
Kagami-Ogata Syndrome	Kyphoscoliosis, Retrognathia, Long clavicles, Hepatomegaly, Bell-shaped thorax, Anteverted nares,...	OMIM:608149
Craniosynostosis And Dental Anomalies	Turricephaly, Dental crowding, Trigonocephaly, Clinodactyly, Narrow palate, Short stature, Short ...	OMIM:614188
Sillence Syndrome	Large iliac wing, Flat acetabular roof, Broad metatarsal, Broad thumb, Abnormal morphology of the...	ORPHA:3168
Spinocerebellar Ataxia Type 37	Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cogwheel rigidity, Gait disturbance...	ORPHA:363710
Stickler Syndrome Type 1	Long philtrum, Short nose, Platyspondyly, Abnormal vertebral epiphysis morphology, Abnormal epiph...	ORPHA:90653
Chromosome 16Q22 Deletion Syndrome	Postnatal growth retardation, Narrow chest, Wide anterior fontanel, Single transverse palmar crea...	OMIM:614541
Marcus-Gunn Syndrome	Abnormal fifth cranial nerve morphology	ORPHA:91412
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea	ORPHA:397685
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Steppage gait, Hammertoe, Tremor, Elevated circulating creatine kinase concentration, Gait ataxia...	OMIM:618387
Macrocephaly, Benign Familial	Macrocephaly, Biparietal narrowing, Frontal bossing, Dolichocephaly, Long philtrum	OMIM:153470
4Q21 Microdeletion Syndrome	Micromelia, Short palm, Toe syndactyly, Short foot, Depressed nasal bridge, Small hand	ORPHA:238750
20P13 Microdeletion Syndrome	Polydactyly, Macrocephaly, Finger syndactyly, Wide anterior fontanel, Decreased body weight, Micr...	ORPHA:313781
Spondylometaphyseal Dysplasia, Algerian Type	Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Flared femoral metaphysi...	OMIM:184253
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Abnormal foot morphology, Supraventricular arrhythmia, Brac...	ORPHA:168796
Urocanase Deficiency	Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria, Aggressive behavior	OMIM:276880
Microcephaly-Capillary Malformation Syndrome	Short nose, Wide nose, Small for gestational age, Progressive microcephaly, Hypoplasia of the max...	OMIM:614261
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, High palate, Dental malocclusion	OMIM:608931
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor...	ORPHA:251510
Bent Bone Dysplasia Syndrome 1	Bell-shaped thorax, Hypoplastic pubic bone, Short clavicles, Gingival overgrowth, Coronal cranios...	OMIM:614592
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Marinesco-Sjögren Syndrome	Abnormal metacarpal morphology, Pectus carinatum, Abnormal finger morphology, Scoliosis, Microcep...	ORPHA:559
Atypical Rett Syndrome	Gait ataxia, Bruxism, Pill-rolling tremor, Agitation, Tongue thrusting, Tremor, Dystonia, Inappro...	ORPHA:3095
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Orofacial cleft, Aplasia/Hypoplasia of the thum...	ORPHA:3186
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Barrel-shaped chest, Mandibular prognathia, Relative macrocephaly, Broad thumb, Mesom...	ORPHA:171866
Noonan Syndrome 4	Large for gestational age, Macrocephaly, Cubitus valgus, Pectus excavatum of inferior sternum, Ab...	OMIM:610733
Mgat2-Cdg	Osteopenia, Gastroparesis, Gastroesophageal reflux, Low hanging columella, Recurrent upper and lo...	ORPHA:79329
Achard Syndrome	Brachycephaly, Arachnodactyly, Micrognathia, Broad skull	OMIM:100700
Chops Syndrome	Short nose, High, narrow palate, Cervical C2/C3 vertebral fusion, Gastroparesis, Gastroesophageal...	OMIM:616368
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thin vermilion border, Anteverted nares, Progressive microcephaly, Thoracic kyphoscoliosis, Incre...	ORPHA:481152
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Macrocephaly, Narrow chest, Short thorax, Cloverleaf skull, Kypho...	ORPHA:93274
Roberts-Sc Phocomelia Syndrome	Radial deviation of finger, Severe intrauterine growth retardation, Wrist flexion contracture, Mi...	OMIM:268300
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Abdominal distention, Cirrhosis, Hepatomegaly, Portal fibrosis, Delayed puberty, Incr...	ORPHA:369
Young-Onset Parkinson Disease	Gastroparesis, Diarrhea, Hyposmia, Constipation, Nausea	ORPHA:2828
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Short long bone, Prominent interphalangeal joints, Anteverted nares, Short stature, Short palm, S...	OMIM:215150
Liang-Wang Syndrome	Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, Dystonia, Wide mou...	OMIM:618729
Thalidomide Embryopathy	Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han...	ORPHA:3312
Short Stature With Microcephaly And Distinctive Facies	Osteopenia, Anisopoikilocytosis, Anemia, Proximal placement of thumb, Anteverted nares, Decreased...	OMIM:615789
Temtamy Preaxial Brachydactyly Syndrome	Plagiocephaly, Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Microdont...	OMIM:605282
Amelogenesis Imperfecta, Type Ic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:204650
Myotonia Fluctuans	Handgrip myotonia, Myotonia of the upper limb, Myotonia with warm-up phenomenon, Spasticity of fa...	ORPHA:99734
Spondylocarpotarsal Synostosis Syndrome	Pectus carinatum, Hyperlordosis, Short metacarpal, Tarsal synostosis, Bowed humerus, Anteverted n...	OMIM:272460
Periventricular Nodular Heterotopia 7	Short nose, 1-4 toe syndactyly, Clinodactyly of the 5th finger, Talipes equinovarus, Dental crowd...	OMIM:617201
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Retrognathia, Thin vermilion border, Patellar hypoplasia, Anteverted nares, Gingival overgrowth, ...	ORPHA:464288
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormal metaphysis morphology, Platyspondyly, Flat capital femoral epiphysis, Broad ...	ORPHA:157965
Diamond-Blackfan Anemia 21	Sandal gap, Chronic diarrhea, Microcephaly, Cutis marmorata, Aortic regurgitation, Short stature,...	OMIM:620072
Ulnar-Mammary Syndrome	Abnormal clavicle morphology, Delayed puberty, Aplasia of the pectoralis major muscle, Abnormalit...	ORPHA:3138
Monosomy 18P	Brachycephaly, Kyphoscoliosis, Short philtrum, Tooth malposition, Hypertension, Enlarged thorax, ...	ORPHA:1598
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Eyelid myoclonus, Difficulty walking, Inability to walk, Tremor, Limb myoclonus, Waddling gait, F...	ORPHA:2590
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Thin vermilion border, Abnormal palate morphology, Thick lower lip vermilion, Short nose, Abnorma...	ORPHA:2701
Multiple Osteochondromas	Intestinal obstruction, Abnormal femur morphology, Limitation of knee mobility, Abnormal lower li...	ORPHA:321
Hyperphenylalaninemia, Bh4-Deficient, A	Bradykinesia, Irritability, Hypertonia, Limb hypertonia, Tremor, Hyperphenylalaninemia, Microceph...	OMIM:261640
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Increased muscle glycogen content, Myotonia, Skeletal muscle atrophy	ORPHA:371
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Postnatal growth retardation, Short nose, Slender nose, Scoliosis, Micrognathia, Joint contractur...	OMIM:615419
Stxbp1-Related Encephalopathy	Inability to walk, Hyperactivity, Spasticity, Tremor, Dystonia, Ataxia, Spastic tetraplegia	ORPHA:599373
Premature Ovarian Failure 8	Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm...	OMIM:615723
Dyssegmental Dysplasia, Silverman-Handmaker Type	Disproportionate short-limb short stature, Short long bone, Narrow mouth, Bowing of the long bone...	OMIM:224410
Steinfeld Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal vertebral morphology, Aplasia/Hypoplas...	OMIM:184705
Muscular Dystrophy, Barnes Type	Muscular dystrophy, Myotonia, Myopathy	OMIM:158800
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Temporomandibu...	OMIM:164900
Shprintzen-Goldberg Syndrome	Retrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum, Microcep...	ORPHA:2462
Mccune-Albright Syndrome	Decreased fertility, Abnormal femur morphology, Abnormal facial skeleton morphology, Increased se...	ORPHA:562
Rapid-Onset Dystonia-Parkinsonism	Bradykinesia, Torticollis, Resting tremor, Emotional lability, Depression, Craniofacial dystonia,...	ORPHA:71517
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Gastroparesis, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Muscle fiber...	OMIM:157640
Burn-Mckeown Syndrome	Short nose, Bilateral choanal atresia, Prominent nasal bridge, Wide nasal bridge	ORPHA:1200
Weismann-Netter Syndrome	Fibular bowing, Anterior tibial bowing, Calvarial hyperostosis, Lateral femoral bowing, Squared i...	OMIM:112350
Spinocerebellar Ataxia Type 20	Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l...	ORPHA:101110
Radial Ray Hypoplasia With Choanal Atresia	Hypoplasia of the radius, Choanal atresia, Distally placed thumb, Choanal stenosis, Short thumb, ...	OMIM:179270
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614842
Amed Syndrome, Digenic	Short stature, Adrenal hypoplasia, Hypoplasia of the uterus, Long thumb	OMIM:619151
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, Orofacial cleft, Hepatomegaly, Gastroesophageal reflux, Hypertrophic cardiomyopathy,...	ORPHA:17
Coffin-Siris Syndrome 7	Thick lower lip vermilion, Clinodactyly of the 5th finger, Short philtrum, Wide nose, Anteverted ...	OMIM:618027
Three M Syndrome 3	Increased vertebral height, Clinodactyly of the 5th finger, Slender long bone, Short thorax, Ante...	OMIM:614205
Aromatase Deficiency	Osteopenia, Male infertility, Genu valgum, Delayed epiphyseal ossification, Macroorchidism, postp...	ORPHA:91
Cardioacrofacial Dysplasia 2	Genu valgum, Clinodactyly of the 5th finger, Short philtrum, Conical tooth, Narrow chest, Mandibu...	OMIM:619143
Myotonic Dystrophy 1	Feeding difficulties in infancy, Facial diplegia, Myotonia, Dysphagia	OMIM:160900
Triphalangeal Thumbs With Brachyectrodactyly	Triphalangeal thumb, Short 2nd finger, Split hand, Split foot, Brachydactyly, Short 3rd toe	OMIM:190680
Camurati-Engelmann Disease	Delayed puberty, Abnormal femur morphology, Cachexia, Hyperlordosis, Kyphosis, Leukopenia, Spleno...	ORPHA:1328
Meier-Gorlin Syndrome 3	Absent sternal ossification, Short ribs, Microcephaly, Intrauterine growth retardation, Genu varu...	OMIM:613803
Spastic Paraplegia 78, Autosomal Recessive	Bradykinesia, Babinski sign, Falls, Resting tremor, Gait ataxia, Spastic paraplegia, Ataxia, Park...	OMIM:617225
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand, Dilated cardiomyopathy, Cli...	OMIM:610140
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia	OMIM:618425
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Gastroparesis, Bifid uvula, Joint hypermobility, Craniosynostosis,...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Gastroparesis, Bifid uvula, Joint hypermobility, Craniosynostosis,...	ORPHA:352665
Even-Plus Syndrome	Short nose, Bifid nasal tip, High palate, Depressed nasal ridge, Vertebral clefting, Epiphyseal d...	OMIM:616854
Weill-Marchesani Syndrome 1	Broad skull, Broad metatarsal, Pulmonic stenosis, Aortic valve stenosis, Broad ribs, Narrow palat...	OMIM:277600
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Delayed puberty, Absence of secondary sex characteristics, Small pituitary gland, Impotence, Brea...	ORPHA:2232
Tarp Syndrome	Rocker bottom foot, Glossoptosis, Pectus excavatum, Intrauterine growth retardation, Tongue nodul...	OMIM:311900
Saethre-Chotzen Syndrome	Bilateral single transverse palmar creases, Abnormal form of the vertebral bodies, Hyperlordosis,...	ORPHA:794
Specific Granule Deficiency 2	Osteopenia, Amelogenesis imperfecta, Intractable diarrhea, Anemia, Sandal gap, Conical tooth, Too...	OMIM:617475
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Premature Ovarian Failure 21	Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho...	OMIM:620311
Erythrokeratodermia Variabilis	Cutaneous photosensitivity, Microcephaly, Patchy palmoplantar hyperkeratosis, Short stature, Weig...	ORPHA:317
Marshall Syndrome	Small proximal tibial epiphyses, Bifid uvula, Irregular femoral epiphysis, Long philtrum, Irregul...	OMIM:154780
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Spasticity, Tremor, Ataxia, Wide nasal bridge, Aggressive behavior	OMIM:300983
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Myotonia, Skeletal muscle atrophy	OMIM:254950
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal metaphysis morphology, Retrognathia, Disproportionate short stature, Clinodactyly of the...	ORPHA:2637
Acrofrontofacionasal Dysostosis	Brachycephaly, Non-midline cleft of the upper lip, Dimple on nasal tip, High palate, Abnormal epi...	ORPHA:1784
Spinocerebellar Ataxia 38	Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus	OMIM:615957
Roberts Syndrome	Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,...	ORPHA:3103
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait disturbance, Gait ataxia, Cogni...	OMIM:617145
Pandas	Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, C...	ORPHA:66624
Infantile Neuronal Ceroid Lipofuscinosis	Chorea, Spasticity, Tremor, Myoclonus, Poor fine motor coordination, Cognitive impairment, Myoclo...	ORPHA:79263
Woodhouse-Sakati Syndrome	Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the uterus, Decreased response to...	ORPHA:3464
Saccharopinuria	Elevated plasma citrulline, Tremor, Hypercystinemia, Hyperlysinemia, Gait ataxia, Cognitive impai...	ORPHA:3124
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Gastroparesis, Anteverted nares, Neonatal death, Microretrognathia, Wide nasal bridge	OMIM:614052
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Congenital bilateral hip dislocation, Tibial bowing, Prominent nose, Microgna...	ORPHA:453510
3C Syndrome	Abnormal hip bone morphology, Prominent occiput, Kyphosis, Pulmonic stenosis, Aortic valve stenos...	ORPHA:7
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P...	OMIM:233420
Brachydactyly, Type A1, C	Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge...	OMIM:615072
Phelan-Mcdermid Syndrome	Widely spaced teeth, Clinodactyly of the 5th finger, Macrocephaly, Episodic vomiting, Gastroesoph...	OMIM:606232
Marshall-Smith Syndrome	Retrognathia, Short nose, Reduced bone mineral density, Slender long bone, Anteverted nares, Ging...	ORPHA:561
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Difficulty walking, Dementia, Tongue fasciculations, Tremor, Elevated circulating creatine kinase...	OMIM:159950
Dpm1-Cdg	Sandal gap, Trigonocephaly, Hepatic steatosis, Camptodactyly, Failure to thrive, Hepatosplenomega...	ORPHA:79322
Wolman Disease	Abdominal distention, Hepatomegaly, Vomiting, Failure to thrive, Acute hepatic failure, Splenomegaly	OMIM:620151
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Abnormal palate morphology, Short nose, Talipes, Narrow mouth, Short stature, Camptodactyly of fi...	ORPHA:1495
Alg6-Cdg	Jaundice, Scoliosis, Shortening of all distal phalanges of the fingers, Failure to thrive, Feedin...	ORPHA:79320
Premature Ovarian Failure 9	Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati...	OMIM:615724
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion, Bifid nasal tip, Bifid scrotum, Bifid uvula, Broad philtrum, Lon...	OMIM:211380
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Abdominal distention, Gastroesophageal reflux, Percussion myotonia, Nemaline bodies, Feeding diff...	OMIM:620275
Popliteal Pterygium Syndrome	Spina bifida occulta, Bifid scrotum, Cleft upper lip, Cutaneous finger syndactyly, Bifid uvula, C...	OMIM:119500
Atypical Progressive Supranuclear Palsy Syndrome	Bradykinesia, Inappropriate behavior, Oculomotor apraxia, Falls, Tremor by anatomical site, Extra...	ORPHA:99750
Pitt-Hopkins Syndrome	Narrow foot, Microcephaly, Wide mouth, Short philtrum, Tooth malposition, Anteverted nares, Scoli...	ORPHA:2896
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Severe postnatal ...	ORPHA:319675
Amelogenesis Imperfecta, Type Ih	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:616221
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del...	ORPHA:99429
Nager Syndrome	Hypoplasia of the radius, Abnormal palate morphology, Triphalangeal thumb, Aplasia/Hypoplasia of ...	ORPHA:245
Ellis Van Creveld Syndrome	Microdontia, Abnormal oral frenulum morphology, Short distal phalanx of finger, Intrauterine grow...	ORPHA:289
Regional Odontodysplasia	Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de...	ORPHA:83450
Short Stature, Brussels Type	Calcification of cartilage, Microretrognathia, Delayed epiphyseal ossification	ORPHA:2867
Myotonia With Skeletal Abnormalities And Mental Retardation	Skeletal muscle hypertrophy, Myotonia, Firm muscles	OMIM:255710
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Rocker bottom foot, Short nose, Clinodactyly of the 5th finger, Anteverted nares, Exaggerated cup...	OMIM:618506
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Dental crowding, Thin upper lip vermilion, Brachydactyly	OMIM:618879
Pelger-Huet Anomaly	Polydactyly, Short 4th metacarpal, Pes cavus, Macrocephaly, Giant platelets, Upper limb undergrow...	OMIM:169400
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Limited elbow movement, Proximal placement of thumb, Microdontia, Pulmonic stenosis, Cutis marmor...	OMIM:610759
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Increased serum pyruvate, Titubation, Elevated circulating creatine kinase concentration,...	OMIM:619405
Raine Syndrome	Subperiosteal bone formation, Brachyturricephaly, Microdontia, Pectus excavatum, Microcephaly, Wi...	OMIM:259775
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Gastroparesis, Intestin...	ORPHA:70595
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, Irregular epiphyses, Delayed pubic bone ossification, Clinodactyly of the 5th f...	OMIM:618162
Intellectual Developmental Disorder, Autosomal Dominant 53	Brachycephaly, Posterior plagiocephaly, Genu valgum, Macrocephaly, Microcephaly, Growth delay, Wi...	OMIM:617798
Autosomal Dominant Progressive External Ophthalmoplegia	Hypomimic face, Gastroesophageal reflux, Gastroparesis, Ragged-red muscle fibers, Facial diplegia...	ORPHA:254892
Auriculocondylar Syndrome	Macrocephaly, Abnormality of the temporomandibular joint, Mandibular condyle hypoplasia, Dental c...	ORPHA:137888
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose, Short philtrum, Mandibular prognathia, Scoliosis, Everted lower lip vermilion, Kyphos...	ORPHA:2429
Spinocerebellar Ataxia Type 14	Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Cognitive impairment, Rigidity, ...	ORPHA:98763
Spinocerebellar Ataxia 7	Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore...	OMIM:164500
Hajdu-Cheney Syndrome	Delayed puberty, Partial absence of toe, Prominent occiput, Pectus carinatum, Decreased skull oss...	ORPHA:955
Radio-Tartaglia Syndrome	Retrognathia, Dental crowding, Microcephaly, Wide mouth, Dysphagia, Long philtrum, Short philtrum...	OMIM:619312
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Secondary microcephaly, Retrognathia, Thin vermilion border, Skull asymmetry, Anteverted nares, H...	OMIM:612938
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Short iliac bones, Hepatomegaly, Rhizomelia, Narrow chest, Broad long bone diaphyses, Acetabular ...	OMIM:614376
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh...	OMIM:618841
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Postnatal growth retardation, Prominent protruding coccyx, Oral-pharyngeal dysphagia, Anteverted ...	ORPHA:480907
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
7Q11.23 Microduplication Syndrome	Retrognathia, Pectus excavatum, Aortic valve stenosis, Cutis marmorata, Craniosynostosis, Abnorma...	ORPHA:96121
14Q24.1Q24.3 Microdeletion Syndrome	Long philtrum, Short nose, Dislocated radial head, Limited elbow extension and supination, Promin...	ORPHA:401935
Miller-Dieker Syndrome	Short nose, Sacral dimple, Clinodactyly of the 5th finger, Anteverted nares, Growth delay, Abnorm...	ORPHA:531
Chromosome 19Q13.11 Deletion Syndrome, Distal	Retrognathia, Solitary median maxillary central incisor, Bifid scrotum, Intrauterine growth retar...	OMIM:613026
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Abdominal distention, Intestinal pseudo-obstruction, Abdominal pain, Cachexia, Constipation, Slen...	OMIM:613662
Diabetes Insipidus, Neurohypophyseal	Short nose, Wide nose	OMIM:125700
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Postnatal growth retardation, Narrow foot, Clinodactyly of the 5th finger, Short philtrum, Promin...	ORPHA:231137
Immunodeficiency 43	Hypoplasia of the ulna, B lymphocytopenia, Reduced natural killer cell count, Radial bowing	OMIM:241600
Coxoauricular Syndrome	Abnormal femur morphology, Micromelia	ORPHA:1508
Spondylometaphyseal Dysplasia, Kozlowski Type	Narrow greater sciatic notch, Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand,...	OMIM:184252
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap...	OMIM:135750
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, High palate, Female infertility, Amenorrhea, Increased circulati...	OMIM:110100
Mucolipidosis Type Ii	Cardiomyopathy, Kyphosis, Splenomegaly, Craniosynostosis, Telangiectases of the cheeks, Hip dislo...	ORPHA:576
Lopes-Maciel-Rodan Syndrome	Bradykinesia, Hypertonia, Agitation, Spasticity, Tremor, Dystonia, Unsteady gait, Dysphagia, Moto...	OMIM:617435
8Q22.1 Microdeletion Syndrome	Abnormal nostril morphology, Sandal gap, Finger syndactyly, Abnormality of the dentition, Depress...	ORPHA:178303
Kniest Dysplasia	Tibial bowing, Pectus excavatum, Hypoplastic pelvis, Dumbbell-shaped long bone, Dumbbell-shaped f...	OMIM:156550
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Secondary amenorrhea, Hyperlordosis, Kyphosis, Hypergonadotropic hypogonadism, Short stature, Bro...	ORPHA:3085
Huntington Disease-Like 2	Bradykinesia, Irritability, Memory impairment, Subcortical dementia, Chorea, Depression, Action t...	OMIM:606438
Syndactyly, Type V	Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas...	OMIM:186300
Craniolenticulosutural Dysplasia	Decreased skull ossification, Microdontia, High iliac wing, Wide mouth, Long philtrum, Scoliosis,...	ORPHA:50814
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Malan Syndrome	Retrognathia, Advanced eruption of teeth, Short nose, Macrocephaly, Gingival overgrowth, Mandibul...	OMIM:614753
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Abdominal distention, Hepatomegaly, Narrow chest, Thyroid lymphangiectasia, Pancreatic lymphangie...	OMIM:235255
Xylt1-Cdg	Hepatomegaly, Flared metaphysis, Short clavicles, Short long bone, Relative macrocephaly, Broad t...	ORPHA:370930
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Scapular winging, Upper limb muscle weakn...	ORPHA:353
Ollier Disease	Abnormal metaphysis morphology, Platyspondyly, Anemia, Micromelia, Abnormal cartilage morphology,...	ORPHA:296
Brachydactyly, Type E1	Type E brachydactyly, Short metatarsal, Straight clavicles, Short clavicles, Short metacarpal, Br...	OMIM:113300
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Intestinal pseudo-obstruction, Gastroparesis, Ragged-red muscle fibers, Scapular winging, Muscle ...	OMIM:607459
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Difficulty walking, Depression, Tremor, Hemiatrophy, Hemiparesis, Dystonia, Parkins...	ORPHA:306669
Inverted Duplicated Chromosome 15 Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Short philtrum, 2-3 toe syndactyly, High palate, M...	ORPHA:3306
Waardenburg Syndrome, Type 3	Premature graying of hair, Mandibular prognathia, Scapular winging, Microcephaly, Camptodactyly o...	OMIM:148820
2Q37 Microdeletion Syndrome	Bilateral single transverse palmar creases, Thin vermilion border, Macrocephaly, Clinodactyly of ...	ORPHA:1001
Prader-Willi Syndrome	Osteopenia, Gastroparesis, Narrow nasal bridge, Poor suck, Osteoporosis, Vomiting, Nasogastric tu...	ORPHA:739
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Brachycephaly, Short nose, 2-3 toe syndactyly, Scoliosis, High palate, Hypoplasia of the maxilla,...	OMIM:218000
Spinocerebellar Ataxia 42	Spastic gait, Babinski sign, Depression, Tremor, Cognitive impairment, Ataxia, Spastic ataxia, Un...	OMIM:616795
Garg-Mishra Progeroid Syndrome	Secondary microcephaly, Postnatal growth retardation, Narrow chest, Slender long bone, Dental cro...	OMIM:620601
Al Amyloidosis	Abdominal distention, Gastrointestinal hemorrhage, Abnormal salivary gland morphology, Abnormalit...	ORPHA:85443
Abruzzo-Erickson Syndrome	Abnormal palate morphology, Short stature, Cleft palate, Short toe, Malar flattening, Brachydacty...	ORPHA:921
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology, Upper limb undergrowth, Toe clinodactyly, Short stature, Dolic...	ORPHA:166277
Brachydactyly Type B	Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy...	ORPHA:93383
Suleiman-El-Hattab Syndrome	Polydactyly, Thick lower lip vermilion, Single transverse palmar crease, High palate, Microcephal...	OMIM:618950
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Retrognathia, Short nose, Obesity, Broad nasal tip, Malar flattening, Open mouth, Failure to thri...	OMIM:613670
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Wide nasal base, Sandal gap, Broad 2nd toe, Short metacarpal, Eve...	OMIM:601358
Neurodegeneration With Brain Iron Accumulation 7	Increased circulating very long-chain fatty acid concentration, Lower limb spasticity, Tremor, Dy...	OMIM:617916
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Proximal placement of thumb, Abnormal sternum morphology, Microcephaly, Wide mouth, Long philtrum...	ORPHA:487796
Adiposis Dolorosa	Constipation, Abdominal distention, Obesity, Painful subcutaneous lipomas	OMIM:103200
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Babinski sign, Hypertonia, Steppage gait, Hammertoe, Spasticity, Tremor, Mental deterioration	OMIM:609260
Phocomelia, Schinzel Type	Aplasia/Hypoplasia involving the pelvis, Intrauterine growth retardation, Calvarial skull defect,...	ORPHA:2879
Oculomaxillofacial Dysostosis	Abnormality of the nose, Underdeveloped nasal alae, Abnormality of the dentition, Abnormality of ...	ORPHA:1794
Apert Syndrome	Hypertension, Brachyturricephaly, Broad thumb, Bifid uvula, Narrow palate, Aplasia/Hypoplasia of ...	ORPHA:87
Renal And Mullerian Duct Hypoplasia	Severe postnatal growth retardation, Aplasia of the uterus, Anteriorly displaced urethral meatus,...	OMIM:266810
Tarp Syndrome	Rocker bottom foot, Glossoptosis, Pectus excavatum, Intrauterine growth retardation, Tongue nodul...	ORPHA:2886
Carpenter Syndrome 2	Retrognathia, Pectus carinatum, Pectus excavatum, Broad thumb, Trigonocephaly, Narrow naris, Long...	OMIM:614976
Perrault Syndrome 2	Amenorrhea, Streak ovary	OMIM:614926
Martin-Probst Syndrome	Thick lower lip vermilion, Hypoplastic nipples, Bifid scrotum, Hypothyroidism, Short stature, Cho...	OMIM:300519
2Q31.1 Microdeletion Syndrome	Sandal gap, Everted lower lip vermilion, Kyphosis, Trigonocephaly, Microcephaly, Long philtrum, A...	ORPHA:251014
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Tremor, Vocal cord paralysis, Difficulty walking	OMIM:158580
Neurotrophic Keratopathy	Abnormal fifth cranial nerve morphology	ORPHA:137596
Hsd10 Disease	Tremor, Short attention span, Gait disturbance, Microcephaly, Rigidity, Ataxia, Dysphagia, Myoclo...	ORPHA:391417
Oculodentodigital Dysplasia	Abnormal form of the vertebral bodies, Broad alveolar ridges, Tooth agenesis, Clinodactyly, Tauro...	ORPHA:2710
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Incoordination, Gait apraxia, Gait ataxia, Cognitive impairment, Ataxia, Dysphagia, Aggressive be...	OMIM:615157
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Parkinson Disease 14, Autosomal Recessive	Frontotemporal dementia, Rigidity, Clumsiness, Aggressive behavior, Pill-rolling tremor, Eyelid m...	OMIM:612953
Chromosome 8Q22.1 Duplication Syndrome	Pes cavus, Cubitus valgus, Short metatarsal, Gastroesophageal reflux, Cervical C2/C3 vertebral fu...	OMIM:151200
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:612529
Temtamy Syndrome	Aortic regurgitation, Dental crowding, Short 2nd toe, Hypoplasia of teeth, Micrognathia, Frontal ...	OMIM:218340
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Postnatal growth retardation, Abdominal distention, Hepatomegaly, Narrow chest, Pancreatic lympha...	ORPHA:1655
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Limb ataxia, Oculomotor apraxia, Chorea, Truncal ataxia, Tremor, Elevated circulating creatine ki...	OMIM:208920
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Proximal placement of thumb, Broad alveolar ridges, Dental crowding, H...	OMIM:270400
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Dental crowding, Relative macrocephaly, Severe intrauterine growth retardation, Microdontia, Synd...	ORPHA:96182
Hyperphenylalaninemia, Bh4-Deficient, D	Hyperphenylalaninemia, Hypertonia, Tremor, Transient hyperphenylalaninemia	OMIM:264070
Edinburgh Malformation Syndrome	Thin vermilion border, Short nose, Anteverted nares, Narrow mouth, Choanal atresia, Slender finge...	ORPHA:1895
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Secondary microcephaly, Postnatal growth retardation, Broad secondary alveolar ridge, High palate...	ORPHA:3369
Teebi Hypertelorism Syndrome 1	Short nose, Dental crowding, Anteverted nares, Bicornuate uterus, Coronal craniosynostosis, Shawl...	OMIM:145420
Kniest Dysplasia	Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Dumbbell-shaped femur, Flexion c...	ORPHA:485
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Retrognathia, Short nose, Kyphoscoliosis, Neutropenia, High palate, Microcephaly, Fai...	OMIM:618005
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Pectus excavatum, Microcephaly, Recurrent sinusitis, Craniosynostosis, Overlapping toe, Anteverte...	OMIM:213980
Congenital Myopathy 17	Overlapping fingers, Narrow chest, Mandibular prognathia, High palate, Pectus excavatum, Failure ...	OMIM:618975
Lowry-Wood Syndrome	Irregular epiphyses, Platyspondyly, Dislocated radial head, Coxa vara, Epiphyseal dysplasia, Micr...	ORPHA:1824
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Asherman Syndrome	Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc...	ORPHA:137686
Pseudohermaphroditism, Female, With Skeletal Anomalies	Clitoral hypertrophy, Ulnar radial head dislocation, Hypoplasia of the maxilla, Primary amenorrhe...	OMIM:264270
Laurence-Moon Syndrome	Brachycephaly, Bilateral single transverse palmar creases, Finger syndactyly, Short stature, Hand...	ORPHA:2377
Hypokalemic Periodic Paralysis, Type 1	Myotonia, Myopathy	OMIM:170400
21Q22.11Q22.12 Microdeletion Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Dental crowding, Microcephaly, Clinodactyly, ...	ORPHA:261323
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormal palate morphology, Short nose, Cachexia, Postaxial hand polydactyly, Short stature, Micr...	ORPHA:1389
Intellectual Developmental Disorder, Autosomal Dominant 70	Retrognathia, Postnatal macrocephaly, Retinal telangiectasia, Low hanging columella, Mandibular p...	OMIM:620157
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Short long bone, Short metacarpal, Cupped ribs, Severe short statur...	ORPHA:85167
Osteogenesis Imperfecta, Type V	Osteopenia, Anterior radial head dislocation, Vertebral wedging, Hyperextensibility of the finger...	OMIM:610967
Myhre Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Short long bone, Hypertension, Aortic valve s...	OMIM:139210
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Craniodigital-Intellectual Disability Syndrome	Short nose, Spina bifida occulta, Narrow nasal bridge, Finger syndactyly, Short stature, Microgna...	ORPHA:1514
Autosomal Spastic Paraplegia Type 58	Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ...	ORPHA:397946
Al Kaissi Syndrome	Brachycephaly, Postnatal growth retardation, High, narrow palate, Deep palmar crease, Decreased h...	OMIM:617694
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Bell-shaped thorax, Short clavicles, Abnormality of the lower limb, Gingival overgrow...	ORPHA:313855
Feingold Syndrome	Orofacial cleft, Annular pancreas, Clinodactyly of the 5th finger, Abnormal form of the vertebral...	ORPHA:1305
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Thin ribs, Decreased skull ossification, Ankyloglossia, Asp...	OMIM:602361
Acrocraniofacial Dysostosis	Turricephaly, Abnormal hip bone morphology, Abnormal form of the vertebral bodies, Pectus excavat...	ORPHA:949
Autosomal Recessive Kenny-Caffey Syndrome	Postnatal growth retardation, Thin clavicles, Calvarial osteosclerosis, Thin ribs, Decreased skul...	ORPHA:93324
Ectrodactyly-Polydactyly Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp...	ORPHA:1892
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow greater sciatic notch, Equinovarus deformity, Neonatal short-limb short stature, Narrow ch...	OMIM:224400
Localized Scleroderma	Abnormality of the nose, Abnormal facial skeleton morphology, Sclerosis of finger phalanx, Gastro...	ORPHA:90289
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il...	OMIM:271640
Striatal Degeneration, Autosomal Dominant 1	Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech	OMIM:609161
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee...	OMIM:600116
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormal vertebral morphology, Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Delaye...	ORPHA:93346
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria	OMIM:617917
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Tibial bowing, Femoral bowing, Bowel incontinence, Kyphosis, Mesomelia, Severe short stature, Rhi...	OMIM:616482
Ovarian Dysgenesis 3	Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu...	OMIM:614324
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,...	OMIM:194072
Wiedemann-Steiner Syndrome	Microcephaly, Contracture of the distal interphalangeal joint of the fingers, Long philtrum, Shor...	OMIM:605130
Pfeiffer Syndrome Type 1	Brachycephaly, Aplasia/Hypoplasia of the thumb, Bicoronal synostosis, Short hallux, Finger syndac...	ORPHA:93258
Mitochondrial Myopathy And Sideroblastic Anemia	Delayed puberty, Short nose, Scoliosis, High palate, Kyphosis, Micrognathia, Long philtrum	ORPHA:2598
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Kyphoscoliosis, Wide nasal base, Dental crowding, Pectus carinatum, Relative macrocephaly, High p...	ORPHA:397709
Intellectual Disability, Birk-Barel Type	High, narrow palate, Short philtrum, Incisor macrodontia, Congenital finger flexion contractures,...	ORPHA:166108
Pseudohypoparathyroidism, Type Ic	Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Short stature, Ename...	OMIM:612462
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Postnatal growth retardation, Irregular epiphyses, Hip osteoarthritis, Hypoplastic iliac wing, Sc...	OMIM:313400
Orofaciodigital Syndrome Xix	Retrognathia, Bifid nasal tip, Microdontia, Accessory oral frenulum, Tongue nodules, Narrow palat...	OMIM:620107
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Macrocephaly, Wide anterior fontanel, Bilateral talipes equinovarus, Mesomelia, Limb undergrowth,...	OMIM:601356
Congenital Heart Defects And Skeletal Malformations Syndrome	Long nose, Sandal gap, Dental crowding, Kyphosis, Arachnodactyly, Joint hypermobility, Intrauteri...	OMIM:617602
Silver-Russell Syndrome Due To 11P15 Microduplication	Postnatal growth retardation, Clinodactyly of the 5th finger, Relative macrocephaly, Severe intra...	ORPHA:231144
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Hyperactivity, Tremor, Gait disturbance, Gait ataxia, Rigidity, Dysmetria	OMIM:618090
Santos Syndrome	Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly...	OMIM:613005
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina...	OMIM:277000
Holt-Oram Syndrome	Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndact...	ORPHA:392
Dystonia 16	Bradykinesia, Retrocollis, Limb dystonia, Involuntary movements, Cognitive impairment, Gait distu...	OMIM:612067
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ...	OMIM:241080
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Pes planus, Short metacarpal, Short stature, Frontal bossing, Micrognathia, Broad columella, Hear...	ORPHA:166035
Trehalase Deficiency	Abdominal distention, Diarrhea, Abdominal pain, Vomiting, Malabsorption	ORPHA:103909
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Agitation, Tremor, Compulsive behaviors, Dystonia, Myoclonus	OMIM:619651
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Tapered finger, Scapular winging, Carious teeth, Clinodactyly, Microretrognathia, Dental malocclu...	OMIM:615560
Autosomal Recessive Robinow Syndrome	Bilateral single transverse palmar creases, Abnormal hip bone morphology, Sandal gap, Disproporti...	ORPHA:1507
Autosomal Recessive Spastic Paraplegia Type 77	Retrognathia, Paroxysmal dystonia, Bilateral cryptorchidism, Intention tremor, Dystonia, Hip dysp...	ORPHA:466722
Robinow Syndrome, Autosomal Dominant 1	Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Short long bon...	OMIM:180700
Leukoencephalopathy With Calcifications And Cysts	Emotional lability, Spasticity, Tremor, Gait disturbance, Cognitive impairment, Dystonia, Ataxia,...	ORPHA:542310
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Long nose, Abnormal form of the vertebral bodies, Hypertension, ...	ORPHA:2769
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ...	ORPHA:90793
Myhre Syndrome	Gingival cleft, Hypertension, Large iliac wing, Bifid uvula, Unilateral cleft lip, Severe short s...	ORPHA:2588
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Bilateral single transverse palmar creases, Short nose, Hypoplasia of penis, Growth delay, Campto...	ORPHA:2083
Prader-Willi Syndrome Due To Translocation	Retrognathia, Everted lower lip vermilion, Microcephaly, Bifid uvula, Wide mouth, Intrauterine gr...	ORPHA:177907
Baraitser-Winter Syndrome 1	Postnatal growth retardation, Retrognathia, Orofacial cleft, Short nose, Anteverted nares, Duplic...	OMIM:243310
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Long nose, Macrocephaly, Short philtrum, Narrow nasal bridge, Hyperextensibility of the finger jo...	OMIM:309520
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Split-Hand/Foot Malformation 3	Narrow mouth, High palate, Split hand, Camptodactyly, Hypoplasia of the maxilla, Cleft palate, Mi...	OMIM:246560
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abdominal distention, Abnormality of the hand, Cirrhosis, Macrovesicular hepatic steatosis, Anemi...	ORPHA:298
Lead Poisoning	Delayed puberty, Hypertension, Decreased female libido, Imbalanced hemoglobin synthesis, Anorexia...	ORPHA:330015
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
X-Linked Intellectual Disability Due To Gria3 Mutations	Narrow palate, Short philtrum, Mandibular prognathia, Short upper lip, Short stature, Malar flatt...	ORPHA:364028
Manganese Poisoning	Bradykinesia, Irritability, Hypertonia, Akinesia, Memory impairment, Abnormality of extrapyramida...	ORPHA:306682
Macs Syndrome	Macrocephaly, Recurrent aphthous stomatitis, Single transverse palmar crease, Gingival overgrowth...	OMIM:613075
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Enamel hypomineralization, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped...	OMIM:307800
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Chronic diarrhea, Clubbing, Angioedema, Cutis marmorata, Dysphagia, Splenomegaly...	ORPHA:3260
Mandibulofacial Dysostosis-Microcephaly Syndrome	Secondary microcephaly, Short nose, Hypoplasia of the maxilla, Trigonocephaly, Micrognathia, Clef...	ORPHA:79113
Acrocallosal Syndrome	Everted upper lip vermilion, Prominent occiput, Abnormal oral frenulum morphology, Bifid distal p...	OMIM:200990
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Plagiocephaly, Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Abnormal de...	ORPHA:2916
Epilepsy, Progressive Myoclonic, 1B	Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria	OMIM:612437
Trisomy 9P	Brachycephaly, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Dental...	ORPHA:236
Tarsal-Carpal Coalition Syndrome	Short finger, Radial deviation of finger, Tarsal synostosis, Distal symphalangism of hands, Cubit...	OMIM:186570
Intellectual Developmental Disorder, Autosomal Dominant 1	Retrognathia, Sandal gap, Everted lower lip vermilion, Microdontia, Microcephaly, Wide mouth, Sho...	OMIM:156200
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Abnormal form of th...	ORPHA:3429
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Macrocephaly, Short metacarpal, Short stature, Frontal bossing, Micrognathia, Broad columella, Me...	OMIM:250410
Distal Xq28 Microduplication Syndrome	Thick lower lip vermilion, Dental crowding, Short lingual frenulum, High palate, Metatarsus adduc...	ORPHA:293939
Bosma Arhinia Microphthalmia Syndrome	Hypospadias, Dental malocclusion, High palate, Paranasal sinus hypoplasia, Hypoplasia of teeth, C...	OMIM:603457
Obesity Due To Congenital Leptin Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se...	ORPHA:66628
Kinsship Syndrome	Dislocated radial head, Microcephaly, Mesomelia, Wide mouth, Cervical ribs, Primary microcephaly,...	OMIM:619297
Diamond-Blackfan Anemia 1	Retrognathia, Hypoplastic coccygeal vertebrae, Macrocytic anemia, Parietal foramina, Microcephaly...	OMIM:105650
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Diastema	OMIM:179250
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Brachycephaly, Long nose, Wide nose, Low insertion of columella, Scoliosis, High palate, Short st...	OMIM:619995
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Osteopenia, Postnatal growth retardation, Single transverse palmar crease, 2-3 toe syndactyly, Re...	ORPHA:2324
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u...	ORPHA:90797
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Foxp1 Syndrome	Retrognathia, Short nose, Single transverse palmar crease, Mandibular prognathia, Prominent finge...	ORPHA:391372
Parkinson Disease 6, Autosomal Recessive Early-Onset	Bradykinesia, Resting tremor, Depression, Rigidity, Dystonia, Parkinsonism, Dementia	OMIM:605909
Primary Pulmonary Hypoplasia	Patellar hypoplasia, Microcephaly, Failure to thrive, Micrognathia, Cleft palate, Hypoxemia, Intr...	ORPHA:2257
Brachydactyly Type B2	Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang...	ORPHA:140908
Isolated Polycystic Liver Disease	Abdominal distention, Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the pancreas, Gas...	ORPHA:2924
Spinocerebellar Ataxia With Epilepsy	Progressive cerebellar ataxia, Depression, Dysdiadochokinesis, Tremor, Hyperalaninemia, Gait atax...	ORPHA:254881
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Postnatal growth retardation, Clinodactyly of the 5th finger, Delayed eruption of teeth, Severe p...	ORPHA:73272
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short nose, Reduced bone mineral density, Cubitus valgus, Spina bifida occulta, Slender long bone...	ORPHA:1185
Bartsocas-Papas Syndrome	Short nose, Ambiguous genitalia, Talipes, Finger syndactyly, Hypoplastic male external genitalia,...	ORPHA:1234
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Microcephaly, Intraute...	ORPHA:364577
Familial Visceral Myopathy	Abdominal distention, Narrow chest, Anteverted nares, Microcephaly, Camptodactyly of finger, Arac...	ORPHA:2604
Osteogenesis Imperfecta, Type Iii	Neonatal short-limb short stature, Disproportionate short-limb short stature, Slender long bone, ...	OMIM:259420
Mucopolysaccharidosis Type 4	Reduced bone mineral density, Pectus carinatum, Hyperlordosis, Kyphosis, Wide mouth, Abnormal epi...	ORPHA:582
Cranioectodermal Dysplasia 3	Cirrhosis, Widely spaced teeth, Rhizomelia, Macrocephaly, Sandal gap, Narrow chest, 2-3 toe synda...	OMIM:614099
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Short stature, Growth delay, Smooth philtrum, Long philtrum, Thin upper lip vermilion...	ORPHA:438178
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Acrofacial Dysostosis 1, Nager Type	Retrognathia, Radial deviation of finger, Temporomandibular joint ankylosis, Microcephaly, Absent...	OMIM:154400
Combined Oxidative Phosphorylation Deficiency 2	Small for gestational age, Neonatal death, Feeding difficulties in infancy, Brachydactyly	OMIM:610498
Congenital Disorder Of Glycosylation, Type Iia	Retrognathia, Proximal placement of thumb, Everted lower lip vermilion, Pectus excavatum, Microce...	OMIM:212066
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Short nose, Hypospadias, Hypoplastic ischia, Intrauterine growth retardation, Crypto...	OMIM:616910
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Broad distal phalanx of finger, Wide nasal base, Anteverted nares, Hypertension, Broad thumb, Sho...	OMIM:617763
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Kyphosis, Bifid uvula, Symphalangism affecting the phalanges of the h...	ORPHA:2658
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Short greater sciatic notch, Pectus carinatum, Short ribs, Cardiomy...	OMIM:312870
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Abnormality of the hand, Short nose, Widely spaced teeth, Abnormal foot morphology, Mandibular pr...	ORPHA:369891
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Abnormal form of the vertebral bodies, Synostosis of carp...	ORPHA:3238
Coxopodopatellar Syndrome	Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morphology, Abnormality of the kne...	ORPHA:1509
Peho-Like Syndrome	Retrognathia, Short nose, Tapered finger, Open mouth	OMIM:617507
Hereditary Bullous Dystrophy, Macular Type	Short finger, Turricephaly, Acrocyanosis, Microcephaly, Short stature, Growth delay, Heart murmur...	ORPHA:1867
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short stature, Pes cavus, Short nose, Small for gestational age	OMIM:245570
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Pectus carinatum, Postaxial hand p...	ORPHA:3082
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Microcephaly, Short stature, Short humerus, Dysphagia, Feeding difficulties, Short femur, Tapered...	OMIM:618367
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic leg shortening, Short ribs, Abnormal 5th metacarpal morphology, Thoracic hypoplasia, C...	ORPHA:397715
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Polydactyly, Narrow chest, Scoliosis, Short long bone, Short stature, Brachydactyly, Hepatic cysts	OMIM:613819
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal bone ossification, Generalized bone demineralization, Abnormal form of the vertebral bod...	ORPHA:73230
Cooks Syndrome	Broad thumb, Split hand, Triphalangeal thumb, Brachydactyly	ORPHA:1487
7Q31 Microdeletion Syndrome	Postnatal growth retardation, Plagiocephaly, Macrocephaly, Clinodactyly of the 2nd finger, Gastro...	ORPHA:251061
Osteogenesis Imperfecta, Type Ix	Pectus carinatum, Pectus excavatum, Decreased calvarial ossification, Short lower limbs, Multiple...	OMIM:259440
Obesity Due To Leptin Receptor Gene Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se...	ORPHA:179494
Gapo Syndrome	Asymmetry of the thorax, Abnormal form of the vertebral bodies, Decreased skull ossification, Eve...	ORPHA:2067
Pelizaeus-Merzbacher Disease	Writer's cramp, Inability to walk, Broad-based gait, Depression, Tremor, Cognitive impairment, Sp...	OMIM:312080
Craniometadiaphyseal Dysplasia	Dental crowding, Microdontia, Coxa valga, Broad ribs, Genu varum, Absent paranasal sinuses, Scoli...	OMIM:269300
Pseudoaminopterin Syndrome	Clinodactyly of the 5th toe, Limited elbow movement, Pectus excavatum, Microdontia, Overlapping t...	ORPHA:221120
Proximal Myotonic Myopathy	Myotonia	ORPHA:606
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Truncal ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Shor...	OMIM:610185
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short finger, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Short 5th metacarpal	OMIM:604381
Lowry-Maclean Syndrome	Retrognathia, High, narrow palate, Hypospadias, Talon cusp, Bilateral cryptorchidism, Hypoplasia ...	ORPHA:2409
Autosomal Recessive Hypophosphatemic Rickets	Tibial bowing, Craniosynostosis, Genu varum, Rickets of the lower limbs, Increased bone mineral d...	ORPHA:289176
Al-Raqad Syndrome	Short nose, Sandal gap, Narrow mouth, Microcephaly, Brachydactyly, Chronic constipation, Thin upp...	OMIM:616459
Fanconi Anemia, Complementation Group W	Hypoplasia of the radius, Abnormal radial ray morphology, Microcephaly, Growth delay, Absent thum...	OMIM:617784
Paternal Uniparental Disomy Of Chromosome 5	Posterior plagiocephaly, Rhizomelic arm shortening, Abnormal fibular epiphysis morphology, Short ...	ORPHA:96190
Barber-Say Syndrome	Thin vermilion border, Widely spaced teeth, Clinodactyly of the 5th finger, Premature skin wrinkl...	OMIM:209885
Larsen Syndrome	Broad distal phalanx of finger, Finger syndactyly, Scoliosis, Vertebral segmentation defect, Broa...	ORPHA:503
Neu-Laxova Syndrome 2	Rocker bottom foot, Finger syndactyly, Scoliosis, High palate, Depressed nasal ridge, Microcephal...	OMIM:616038
Recombinant Chromosome 8 Syndrome	Secondary microcephaly, Brachycephaly, Postnatal growth retardation, Thick lower lip vermilion, C...	OMIM:179613
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Stillbirth, Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Median cleft palate...	OMIM:119800
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Cerebral Creatine Deficiency Syndrome 2	Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor...	OMIM:612736
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Gastroparesis, Bowel incontinence	OMIM:618877
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bilateral single transverse palmar creases, Aplasia/hypoplasia of the femur, Retrognathia, Broad ...	ORPHA:2636
Hutchinson-Gilford Progeria Syndrome	Retrognathia, Abnormal nasal tip morphology, Reduced bone mineral density, Dental crowding, Narro...	ORPHA:740
Mirage Syndrome	Rocker bottom foot, Radial club hand, Anemia, Gastroesophageal reflux, Petechiae, Chronic diarrhe...	OMIM:617053
Alagille Syndrome 1	Hypoplasia of the ulna, Long nose, Cirrhosis, Butterfly vertebral arch, Reduced number of intrahe...	OMIM:118450
Focal Dermal Hypoplasia	Midclavicular aplasia, Short ribs, Short metacarpal, Split foot, Microcephaly, Telangiectasia, Mi...	OMIM:305600
Otopalatodigital Syndrome Type 2	Glossoptosis, Flared iliac wing, Hypoplastic frontal sinuses, Anodontia, Fibular aplasia, Tarsal ...	ORPHA:90652
Autosomal Dominant Robinow Syndrome	Retrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum, Severe s...	ORPHA:3107
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Genu valgum, Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, ...	ORPHA:2972
Gillessen-Kaesbach-Nishimura Syndrome	Narrow greater sciatic notch, Retrognathia, Brachycephaly, Periportal fibrosis, Wide anterior fon...	OMIM:263210
White Forelock With Malformations	Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Abnormal rib morphology,...	ORPHA:2475
Chronic Diarrhea Due To Glucoamylase Deficiency	Abdominal distention, Dyspepsia, Abnormal small intestinal mucosa morphology, Decreased small int...	ORPHA:103907
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Stillbirth, Clinodactyly of the 5th finger, Narrow nasal ridge, 2-3 toe syndactyly, Anteverted na...	OMIM:236500
Fanconi-Bickel Syndrome	Rickets, Abdominal distention, Osteopenia, Hepatomegaly, Increased hepatic glycogen content, Hepa...	ORPHA:2088
Hypokalemic Periodic Paralysis, Type 2	Myotonia	OMIM:613345
Silver-Russell Syndrome 3	Postnatal growth retardation, Retrognathia, Clinodactyly of the 5th finger, Relative macrocephaly...	OMIM:616489
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium, Secretory diarrhea	OMIM:616868
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Brachycephaly, Plagiocephaly, Flat occiput	ORPHA:2898
Spondylocostal Dysostosis 1, Autosomal Recessive	Kyphoscoliosis, Abdominal distention, Hemivertebrae, Vertebral segmentation defect, Short stature...	OMIM:277300
Perlman Syndrome	Bilateral single transverse palmar creases, Retrognathia, High, narrow palate, Short nose, Hypopl...	ORPHA:2849
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose, Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of ...	OMIM:618618
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Broad distal phalanx of finger, Clinodactyly of the 5th finger, Talipes, Cleft hard palate, Delay...	OMIM:300990
Marshall Syndrome	Brachycephaly, Short nose, Genu valgum, Thick lower lip vermilion, Anteverted nares, High palate,...	ORPHA:560
Acromelic Frontonasal Dysostosis	U-Shaped upper lip vermilion, Brachycephaly, Midline defect of the nose, Patellar hypoplasia, Par...	OMIM:603671
Spastic Paraplegia 20, Autosomal Recessive	Kyphoscoliosis, Pes cavus, Hammertoe, Short foot, Camptodactyly, Short stature, Ulnar deviation o...	OMIM:275900
Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Subluxation of the small joints of the hand, Abnormal femoral head morphology, Ab...	ORPHA:536471
Radio-Renal Syndrome	Hypoplasia of the radius, Retrognathia, High, narrow palate, Abnormal form of the vertebral bodie...	ORPHA:3015
45,X/46,Xy Mixed Gonadal Dysgenesis	Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Cervix cancer, Short 4th metacarpal, H...	ORPHA:1772
Kufor-Rakeb Syndrome	Bradykinesia, Babinski sign, Hypertonia, Akinesia, Torticollis, Spasticity, Parkinsonism with fav...	OMIM:606693
Dermatoosteolysis, Kirghizian Type	Abnormal metaphysis morphology, Abnormality of the hand, Tarsal synostosis, Abnormal diaphysis mo...	ORPHA:1657
Fragile X Tremor/Ataxia Syndrome	Bradykinesia, Obsessive-compulsive trait, Memory impairment, Resting tremor, Depression, Poor fin...	OMIM:300623
Glut1 Deficiency Syndrome 2	Irritability, Reduced haptoglobin level, Tremor, Dystonia, Ataxia, Choreoathetosis	OMIM:612126
Frasier Syndrome	Ambiguous genitalia, male, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Primary am...	ORPHA:347
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ...	OMIM:228900
Muenke Syndrome	Brachycephaly, Plagiocephaly, Tarsal synostosis, Short foot, Coronal craniosynostosis, Short palm...	ORPHA:53271
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Mesomelia, Wide nas...	ORPHA:1908
Intellectual Developmental Disorder, Autosomal Dominant 66	Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Pectus carinatum, Pectus excavatum,...	OMIM:619910
Microphthalmia, Syndromic 2	Sandal gap, Bifid nasal tip, Pulmonic stenosis, Aortic valve stenosis, Microcephaly, Bifid uvula,...	OMIM:300166
Poland Syndrome	Short ribs, Unilateral oligodactyly, Sprengel anomaly, Syndactyly, Rib fusion, Unilateral brachyd...	OMIM:173800
Neurodegeneration With Brain Iron Accumulation 4	Babinski sign, Oromandibular dystonia, Abnormality of extrapyramidal motor function, Depression, ...	OMIM:614298
Waardenburg Syndrome Type 3	Narrow nasal bridge, Abnormal finger morphology, Abnormality of the upper limb, Synostosis of car...	ORPHA:896
Smith-Kingsmore Syndrome	Long philtrum, Short proximal phalanx of finger, Deep plantar creases, Deep palmar crease, Rhizom...	OMIM:616638
Gorham-Stout Disease	Osteopenia, Mandibular pain, Abnormal bone ossification, Abnormal femur morphology, Abnormal ethm...	ORPHA:73
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Muscular dystrophy, Muscle mounding, Skeletal muscle hypertrophy, Osteoporosis, Pylor...	OMIM:613327
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Short nose, Postnatal growth retardation, Platyspondyly, Anteverted nares, Scoliosis,...	OMIM:612394
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Abnormal foot morphology, Abnormal diaphysis morphology, Wide an...	ORPHA:85184
Congenital Fibrinogen Deficiency	Cyanosis, Clubbing of fingers, Abdominal pain, Gingival bleeding, Internal hemorrhage, Splenic ru...	ORPHA:335
Campomelia, Cumming Type	Hepatomegaly, Prematurely aged appearance, Bowing of the long bones, Abnormally ossified vertebra...	ORPHA:1318
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Retrognathia, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges ...	OMIM:619269
Isolated Osteopoikilosis	Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar...	ORPHA:166119
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Brachycephaly, Macrocephaly, Hypoplasia of the maxilla, Short stature, Malar flattening, Coxa val...	OMIM:109120
Recon Progeroid Syndrome	Thin vermilion border, Progeroid facial appearance, Anemia, Proximal placement of thumb, Cutaneou...	OMIM:620370
Basal Cell Nevus Syndrome 1	Kyphoscoliosis, Abnormal sternum morphology, Short ribs, Polydactyly, Short 4th metacarpal, Palma...	OMIM:109400
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone...	ORPHA:3035
Sheldon-Hall Syndrome	Bilateral single transverse palmar creases, Tarsal synostosis, Abnormal hip bone morphology, Scol...	ORPHA:1147
Spinocerebellar Ataxia 18	Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria	OMIM:607458
Short Syndrome	Abnormal zygomatic bone morphology, Excessive wrinkled skin, Abnormal dental enamel morphology, A...	ORPHA:3163
Diarrhea 12, With Microvillus Atrophy	Osteopenia, Abdominal distention, Microvillar PAS-positive secretory granules, Vomiting, Secretor...	OMIM:619445
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Everted upper lip vermilion, Clinodactyly of the 5th finger, Short philtrum, Gingival overgrowth,...	OMIM:618381
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, Broad thumb, Pulmonic stenosis, Overlapping toe, Short philtrum, Ant...	ORPHA:435638
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis, Diffuse palmoplantar hyperkeratosis	ORPHA:86918
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Rocker bottom foot, Kyphoscoliosis, Bilateral single transverse palmar creases, Pectus carinatum,...	ORPHA:488642
Gm1-Gangliosidosis, Type Ii	Beaking of vertebral bodies, Sea-blue histiocytosis, Platyspondyly, Hepatomegaly, Gingival overgr...	OMIM:230600
Thomsen And Becker Disease	Myotonia	ORPHA:614
Dubowitz Syndrome	Sandal gap, Chronic diarrhea, Pectus excavatum, Broad thumb, Microcephaly, Cutis marmorata, Wide ...	ORPHA:235
Stickler Syndrome	Reduced bone mineral density, Abnormal form of the vertebral bodies, Cachexia, Pectus carinatum, ...	ORPHA:828
Spastic Paraplegia 16, X-Linked	Short distal phalanx of finger, Hypoplasia of the maxilla	OMIM:300266
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Handgrip myotonia, Facial hypotonia, Anteverted nares, Incisor macrodontia, High palate, Broad na...	ORPHA:438216
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares	ORPHA:46
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Eruption failure, Pectus excavatum, Kyphosis, Aplasia of the 1st metacarpal, Lon...	ORPHA:476126
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Recurrent mandibular subluxations, Postnatal growth retardation, Wide anterior fontan...	OMIM:225410
Congenital Pancreatic Cyst	Anorexia, Abdominal distention, Jaundice, Pancreatitis, Abdominal pain, Vomiting	ORPHA:313906
Alpha-Methylacyl-Coa Racemase Deficiency	Increased circulating very long-chain fatty acid concentration, Depression, Spasticity, Tremor, I...	OMIM:614307
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Prominent nose, Myotonia	ORPHA:391307
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Narrow palate, Retrognathia, Spina bifida occulta, Delayed eruption of teeth, Conical incisor, Hy...	OMIM:235510
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Scoliosis, Short stature, Short middle phalanx of finger, Thoracic hemi...	ORPHA:1436
Gm1 Gangliosidosis Type 1	Pectus carinatum, Short long bone, Cardiomyopathy, Flared iliac wing, Hypoplastic vertebral bodie...	ORPHA:79255
Tricho-Retino-Dento-Digital Syndrome	Supernumerary tooth, Abnormality of the hand, Oligodontia, Abnormality of the dentition, Brachyda...	ORPHA:1264
Chromosome 10Q26 Deletion Syndrome	Radial deviation of finger, Sandal gap, Prominent fingertip pads, Pectus excavatum, Microcephaly,...	OMIM:609625
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Short stature, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly	OMIM:619248
Late-Infantile/Juvenile Krabbe Disease	Irritability, Difficulty walking, Lower limb spasticity, Emotional lability, Clumsiness, Tetraple...	ORPHA:206443
Microlissencephaly-Micromelia Syndrome	Adducted thumb, Short nose, 11 pairs of ribs, Micromelia	ORPHA:50810
Mucopolysaccharidosis, Type Iva	Pectus carinatum, Hyperlordosis, Kyphosis, Constricted iliac wing, Wide mouth, Large elbow, Coxa ...	OMIM:253000
Mucopolysaccharidosis, Type Ivb	Hyperlordosis, Kyphosis, Aortic valve stenosis, Constricted iliac wing, Wide mouth, Coxa valga, S...	OMIM:253010
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Bruxism, Emotional lability, ...	OMIM:300055
Myoclonic-Atonic Epilepsy	Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia	OMIM:616421
Hypophosphatasia	Abnormal metaphysis morphology, Narrow chest, Bowing of the long bones, Abnormal rib morphology, ...	ORPHA:436
Inherited Creutzfeldt-Jakob Disease	Bradykinesia, Babinski sign, Irritability, Progressive cerebellar ataxia, Spastic dysarthria, Spa...	ORPHA:282166
Carey-Fineman-Ziter Syndrome	Long philtrum, Thin vermilion border, Short nose, Aplasia of the pectoralis major muscle, Antever...	ORPHA:1358
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl...	OMIM:610713
Cinca Syndrome	Purpura, Reduced bone mineral density, Macrocephaly, Anemia, Hepatomegaly, Lymphadenopathy, Leuko...	ORPHA:1451
Trisomy 20P	Reduced bone mineral density, Abnormal hip bone morphology, Abnormal form of the vertebral bodies...	ORPHA:261318
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Craniofacial hyp...	ORPHA:2484
Niemann-Pick Disease, Type A	Macrocephaly, Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Oste...	OMIM:257200
Proximal Myopathy With Extrapyramidal Signs	Difficulty walking, Progressive extrapyramidal muscular rigidity, Chorea, Resting tremor, Involun...	ORPHA:401768
Keratoconus Posticus Circumscriptus	Clinodactyly of the 5th finger, Limited elbow extension and supination, Growth delay, Cleft upper...	OMIM:244600
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Short stature, Hepatosplenomeg...	OMIM:259730
Dystonia 3, Torsion, X-Linked	Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication...	OMIM:314250
Tetrasomy 12P	Long philtrum, Short nose, Abnormal soft palate morphology, Delayed eruption of teeth, Cachexia, ...	ORPHA:884
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Dislocated radial head, Microcephaly, Cutis marmorata, Long philtrum...	OMIM:122470
Nievergelt Syndrome	Pes cavus, Tarsal synostosis, Genu valgum, Mesomelic short stature, Metatarsus adductus, Short st...	OMIM:163400
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Hypoplastic ...	ORPHA:93315
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Difficulty walking, Myoclonus	OMIM:613608
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Rib fusion, Contracture of the proximal interphalangeal joint...	OMIM:609813
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses	OMIM:166740
Desmosterolosis	Retrognathia, Microcephaly, Bifid uvula, Severe short stature, Splenomegaly, Intrauterine growth ...	ORPHA:35107
Fanconi Anemia, Complementation Group O	Hypoplasia of the radius, Proximal placement of thumb, Short stature, Neonatal death, Absent thum...	OMIM:613390
Brain Dopamine-Serotonin Vesicular Transport Disease	Secondary microcephaly, Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetrap...	ORPHA:352649
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short stature, Short 4th metacarpal, Type E brachydactyly, Short metatarsal	OMIM:113301
Fanconi Anemia, Complementation Group P	Hypoplasia of the radius, Anemia, Pancytopenia, Microcephaly, Short stature, Micrognathia, Growth...	OMIM:613951
Rhyns Syndrome	Osteopenia, Short long bone, Osteoporosis, Short stature, Short femoral neck, Radial bowing, Brac...	OMIM:602152
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Microdontia, Arachnodactyly, Slender long bones with narrow diaphyses, Dentinogen...	ORPHA:536467
Geleophysic Dysplasia 3	Limited elbow movement, Hepatomegaly, Anteverted nares, Epiphyseal dysplasia, Short stature, Limb...	OMIM:617809
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Brachydactyly	ORPHA:435804
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Kyphoscoliosis, Prominent occiput, Prominent fingertip pads,...	OMIM:602535
Mucopolysaccharidosis, Type Vi	Kyphoscoliosis, Hypoplastic iliac wing, Pectus carinatum, Sinus tachycardia, Cardiomyopathy, Flar...	OMIM:253200
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Inability to walk, Hyperactivity, Spasticity, Tremor, Microcephaly, Motor stereotypy, Self-injuri...	OMIM:618718
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Short nose, Narrow nasal bridge, Hypodontia, Metacarpophalangeal joint contracture, Scoliosis, Fa...	ORPHA:544503
Noonan Syndrome 1	Kyphoscoliosis, Radial deviation of finger, Superior pectus carinatum, Abnormal sternum morpholog...	OMIM:163950
Neuroferritinopathy	Bradykinesia, Babinski sign, Difficulty walking, Writer's cramp, Leg dystonia, Subcortical dement...	ORPHA:157846
Intellectual Developmental Disorder, Autosomal Dominant 57	Contracture of the proximal interphalangeal joint of the 4th finger, Intermittent diarrhea, Diarr...	OMIM:618050
Poland Syndrome	Aplasia of the pectoralis major muscle, Reduced bone mineral density, Asymmetry of the thorax, Ab...	ORPHA:2911
Cranioectodermal Dysplasia 2	Retrognathia, Portal fibrosis, Short ribs, Hypertension, Everted lower lip vermilion, Microdontia...	OMIM:613610
Baker-Gordon Syndrome	Short nose, Abnormal foot morphology, Scoliosis, Prominent nasal tip, Smooth philtrum, Joint hype...	OMIM:618218
Cockayne Syndrome	Delayed puberty, Progressive microcephaly, Cachexia, Hypertension, Kyphosis, Severe short stature...	ORPHA:191
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly, Hip subluxation	OMIM:620200
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Micromelia	ORPHA:2772
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Gastroparesis, Feeding difficulties in infancy, Osteoporosis	ORPHA:98754
Cog1-Cdg	Kyphoscoliosis, Progressive microcephaly, Short long bone, Flat acetabular roof, Long philtrum, C...	ORPHA:263508
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Mesomelia-Synostoses Syndrome	Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral bowing, Parti...	OMIM:600383
Osteogenesis Imperfecta, Type Xiii	Kyphoscoliosis, Thin vermilion border, Reduced bone mineral density, Limitation of knee mobility,...	OMIM:614856
Parkinsonism-Dystonia 3, Childhood-Onset	Hypertonia, Hyperkinetic movements, Depression, Chorea, Tremor, Action tremor, Dystonia, Ataxia, ...	OMIM:619738
Aicardi-Goutieres Syndrome 6	Irritability, Tremor, Microcephaly, Rigidity, Dystonia, Loss of ambulation	OMIM:615010
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal shoulder morphology, Narrow chest, Short metacarpal, Abnormal pelvic girdle bone morphol...	ORPHA:1422
Saethre-Chotzen Syndrome	Long nose, Parietal foramina, Partial duplication of the distal phalanx of the 2nd finger, Partia...	OMIM:101400
Neurogenic Arthrogryposis Multiplex Congenita	Rocker bottom foot, Plagiocephaly, Equinovarus deformity, Ankle flexion contracture, Hip contract...	ORPHA:1143
Mucopolysaccharidosis Type 1	Abnormal hip bone morphology, Abnormal form of the vertebral bodies, Enlarged thorax, Everted low...	ORPHA:579
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Thick lower lip vermilion, Anteverted nares, Long hallux, Obesity, Tented upper lip v...	OMIM:619854
Ivic Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Scoliosis, Synostosis of carpal bones, Leukocytosi...	ORPHA:2307
Antley-Bixler Syndrome	Brachycephaly, Turricephaly, Talipes, Narrow chest, Femoral bowing, Abnormal rib morphology, Fron...	ORPHA:83
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Gastroparesis, Feeding difficulties in infancy, Osteoporosis	ORPHA:98793
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Plagiocephaly, Gastroesophageal reflux, Microcephaly, Short stature, Downturned corners of mouth,...	ORPHA:457193
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Limb fasciculations, Inability to walk, Tremor, Elevated circulating creatine kinase concentratio...	ORPHA:90117
Traboulsi Syndrome	Retrognathia, Short finger, Cubitus valgus, Dental malocclusion, Wide nose, High palate, Pectus e...	OMIM:601552
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Radial deviation of finger, Kyphosis, Clinodactyly, Coxa valga, Hypospadias, Ante...	OMIM:301040
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Thin vermilion border, Hypodontia, Bifid distal phalanx of toe, Clitoral hypo...	OMIM:618419
Bardet-Biedl Syndrome 8	Brachycephaly, Postaxial polydactyly	OMIM:615985
Mal De Meleda	Perioral erythema, Congenital symmetrical palmoplantar keratosis, Brachydactyly	OMIM:248300
Spondylometaphyseal Dysplasia, Pagnamenta Type	Short 4th metacarpal, Rhizomelia, Femoral bowing, Thoracic kyphosis, Broad thumb, Pes planus, Sho...	OMIM:619638
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Gastroparesis, Feeding difficulties in infancy, Osteoporosis	ORPHA:177904
Craniosynostosis 2	Brachycephaly, Turricephaly, Triphalangeal thumb, Unicoronal synostosis, Bicoronal synostosis, Tr...	OMIM:604757
Adams-Oliver Syndrome 6	Portal hypertension, Tricuspid regurgitation, Cutis marmorata, Foot oligodactyly, Syndactyly, Bra...	OMIM:616589
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Gastroparesis, Feeding difficulties in infancy, Osteoporosis	ORPHA:177901
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Equinovarus deformity, Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wi...	ORPHA:2502
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow palate, Retrognathia, Short nose, Short philtrum, Hypodontia, Scoliosis, Thoracic kyphosis...	OMIM:620250
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes...	OMIM:278850
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Microcephaly, Dystonia...	OMIM:619725
Classic Progressive Supranuclear Palsy Syndrome	Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Progressive extrapyramidal muscular rigid...	ORPHA:240071
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Short stature, Clinodactyly, Syndactyly, Brachydactyly	OMIM:610023
Endocrine-Cerebroosteodysplasia	Sandal gap, Tibial bowing, Syndactyly, Bilateral cleft lip, Fibular bowing, Micromelia, Depressed...	OMIM:612651
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Disproportionate short-limb short stature, Short ribs, Long philtrum, Short thorax, Postaxial han...	ORPHA:93271
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Broad thumb, Pulmonic ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Broad thumb, Pulmonic ...	ORPHA:353277
Rhizomelic Limb Shortening With Dysmorphic Features	Plagiocephaly, Rhizomelia, Clinodactyly of the 3rd finger, Hyperextensibility of the finger joint...	OMIM:618821
Ear-Patella-Short Stature Syndrome	Retrognathia, Microcephaly, Bifid uvula, Severe short stature, Abnormal epiphysis morphology, Cra...	ORPHA:2554
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Pes cavus, Short nose, Hammertoe, Scoliosis, Exaggerated cupid's bow, High palate, Intrauterine g...	OMIM:619833
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Growth delay, Shortening of all distal phalanges of the fingers, Cleft palate, Broad ...	OMIM:615716
Tricho-Dento-Osseous Syndrome	Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Microdontia, Enamel hypominer...	ORPHA:3352
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Gerstmann-Straussler Disease	Bradykinesia, Limb ataxia, Dementia, Memory impairment, Apraxia, Truncal ataxia, Spasticity, Trem...	OMIM:137440
20Q11.2 Microduplication Syndrome	Retrognathia, Bifid scrotum, Severe intrauterine growth retardation, Abnormal oral frenulum morph...	ORPHA:363659
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Gastroesophageal reflux, Diarrhea, Abdominal pain, Bloody diarrhea, Bowel i...	ORPHA:35122
Intellectual Developmental Disorder, X-Linked 30	Short nose, Anteverted nares, Prominent fingertip pads, High palate, Short stature, Thick upper l...	OMIM:300558
Kleefstra Syndrome 1	U-Shaped upper lip vermilion, Brachycephaly, Gastroesophageal reflux, Anteverted nares, Mandibula...	OMIM:610253
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Long nose, Malar prominence, Arachnodactyly, Micrognathia, Brachydactyly, Palmoplantar keratoderm...	ORPHA:2824
Cerebrofacioarticular Syndrome	Osteopenia, Gastrostomy tube feeding in infancy, Caudal appendage, Bilateral choanal atresia/sten...	ORPHA:314679
White-Sutton Syndrome	Microcephaly, Broad thumb, Bifid uvula, Intrauterine growth retardation, Short philtrum, Depresse...	OMIM:616364
Gorlin-Chaudhry-Moss Syndrome	Brachycephaly, Abnormal foot morphology, Abnormal metacarpal morphology, Oligodontia, Abnormality...	ORPHA:2095
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Partial vaginal septum, Dyspareunia, Uterus didelphys, Hydrocolpos, Dysmenorrhea, Abnormal uterin...	ORPHA:3411
Nivelon-Nivelon-Mabille Syndrome	Bell-shaped thorax, Distal clavicular thinning, Narrow chest, Short metacarpal, Micromelia, Micro...	OMIM:600092
Kaposiform Lymphangiomatosis	Abnormal femur morphology, Abnormal form of the vertebral bodies, Abnormal spleen morphology, Lym...	ORPHA:464329
Holoprosencephaly-Craniosynostosis Syndrome	Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Microcephaly, Short stature, Hypopl...	ORPHA:2163
Premature Ovarian Failure 22	Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second...	OMIM:620548
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormal palate morphology, Anteverted nares, Narrow mouth, Depressed nasal ridge, Congenital hip...	ORPHA:2412
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Asymmetry of the t...	OMIM:250250
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Brachycephaly, Craniosynostosis, Thickened calvaria	ORPHA:178377
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordos...	ORPHA:2522
Myotonic Dystrophy 2	Handgrip myotonia, Sternocleidomastoid amyotrophy, Generalized amyotrophy, Myotonia, Weakness of ...	OMIM:602668
X-Linked Intellectual Disability, Sutherland-Haan Type	Brachycephaly, Mandibular prognathia, Decreased body weight, Hypoplasia of the maxilla, Microceph...	ORPHA:93950
Fetal Trimethadione Syndrome	Bilateral single transverse palmar creases, Short nose, Hypospadias, Scoliosis, High palate, Micr...	ORPHA:1913
Inflammatory Pseudotumor Of The Liver	Abdominal distention, Cirrhosis, Abdominal pain, Abnormal liver sonography, Vomiting, Nausea, Bil...	ORPHA:90003
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,...	ORPHA:206484
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ...	OMIM:119100
Atypical Juvenile Parkinsonism	Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta...	ORPHA:391411
Zttk Syndrome	Chronic diarrhea, Relative macrocephaly, Kyphosis, Bifid uvula, Cervical ribs, Intrauterine growt...	OMIM:617140
Nablus Mask-Like Facial Syndrome	Retrognathia, Sandal gap, Everted lower lip vermilion, Long philtrum, Craniosynostosis, Clinodact...	OMIM:608156
Moebius Syndrome	Aplasia of the pectoralis major muscle, Everted lower lip vermilion, Microdontia, Tooth agenesis,...	ORPHA:570
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Brachycephaly, Thin vermilion border, Postnatal growth retardation, Sandal gap, Single transverse...	OMIM:614800
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Short nose, Clinodactyly of the 5th finger, Short philtrum, Single transverse palmar crease, 2-3 ...	OMIM:613443
Ellis-Van Creveld Syndrome	Disproportionate short-limb short stature, Hypoplastic iliac wing, Pectus carinatum, Short long b...	OMIM:225500
Progressive Supranuclear Palsy	Bradykinesia, Irritability, Memory impairment, Falls, Depression, Emotional lability, Tremor, Ble...	ORPHA:683
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Hepatomegaly, Severely reduced left ventricular ejection fraction, Aortic...	OMIM:252600
Nance-Horan Syndrome	Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Short phalanx of fing...	OMIM:302350
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Fused cervical vertebrae, Decreased body weight, Microcephaly, Bone mar...	OMIM:609053
Rothmund-Thomson Syndrome, Type 2	Kyphoscoliosis, Microdontia, Hypogonadism, Osteoporosis, Cryptorchidism, Short stature, Short pal...	OMIM:268400
Genitopalatocardiac Syndrome	Abnormality of the gallbladder, Non-midline cleft of the upper lip, Scoliosis, Postaxial hand pol...	ORPHA:2075
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose, Hypoplasia of penis, Limitation of joint mobility, Camptodactyly of finger, Micrognat...	ORPHA:2547
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Broad distal phalanx of finger, Dental crowding, Broad thumb, Pulmonic stenosis, Aortic valve ste...	ORPHA:353281
Severe X-Linked Intellectual Disability, Gustavson Type	Rocker bottom foot, Equinovarus deformity, Short nose, Triphalangeal thumb, Severe postnatal grow...	ORPHA:3078
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Brachycephaly, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cuppi...	OMIM:156400
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short nose, Bilateral choanal atresia, Clinodactyly of the 5th finger, Lumbar hemivertebrae, Ante...	OMIM:619859
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Cirrhosis, Talipes, Abnormal metacarpal morphology, Finger syndactyl...	ORPHA:974
Basal Ganglia Disease, Biotin-Thiamine Responsive	Babinski sign, Hypertonia, Truncal titubation, Irritability, Inability to walk, Chorea, Confusion...	OMIM:607483
Intellectual Disability-Strabismus Syndrome	Rocker bottom foot, Narrow nasal ridge, Congenital finger flexion contractures, Wide mouth, Intra...	ORPHA:363528
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Right-to-lef...	ORPHA:439
Congenital Disorder Of Glycosylation, Type Iibb	Spasticity, Tremor, Microcephaly, Antalgic gait, Tetraparesis, Aggressive behavior	OMIM:620546
Spastic Paraplegia 79B, Autosomal Recessive	Flexion contracture, Myotonia	OMIM:615491
Hyperphenylalaninemia, Bh4-Deficient, B	Irritability, Hyperkinetic movements, Limb hypertonia, Tremor, Hyperphenylalaninemia, Rigidity, D...	OMIM:233910
Hereditary Sensory And Autonomic Neuropathy Type 2	Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Hy...	ORPHA:970
Fetal Hydantoin Syndrome	Short nose, Triphalangeal thumb, Bifid scrotum, Everted lower lip vermilion, Depressed nasal ridg...	ORPHA:1912
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Short philtrum, Dec...	ORPHA:572333
Craniofrontonasal Syndrome	Hypoplastic nasal tip, Bifid nasal tip, Pectus excavatum, Scoliosis, Abnormality of the dentition...	OMIM:304110
Gorlin Syndrome	Arachnodactyly, Abnormality of the sense of smell, Palmar pits, Scoliosis, Hemivertebrae, Carious...	ORPHA:377
Orofaciodigital Syndrome Type 1	Reduced bone mineral density, Broad alveolar ridges, Hypertension, Accessory oral frenulum, Tongu...	ORPHA:2750
Classic Phenylketonuria	Hypertonia, Memory impairment, Paraplegia, Depression, Tremor, Hyperphenylalaninemia, Motor deter...	ORPHA:79254
Celiac Disease, Susceptibility To, 1	Rickets, Abdominal distention, Steatorrhea, Delayed puberty, Postnatal growth retardation, Recurr...	OMIM:212750
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Hypertonia, Inability to walk, Tremor, Microcephaly, Ataxia, Attention deficit hyperactivity diso...	OMIM:619556
Williams Syndrome	Abnormal form of the vertebral bodies, Hypertension, Hyperlordosis, Cerebral ischemia, Everted lo...	ORPHA:904
Alazami Syndrome	Postnatal growth retardation, Widely spaced teeth, Short philtrum, Slender long bone, Wide nose, ...	ORPHA:319671
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Short nose, Proximal placement of thumb, Narrow chest, Wide anterior fontanel, Anteverted nares, ...	OMIM:217980
Orofaciodigital Syndrome Type 4	Retrognathia, Abnormal oral frenulum morphology, Microcephaly, Bifid uvula, Severe short stature,...	ORPHA:2753
Spinocerebellar Ataxia, Autosomal Recessive 2	Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Unsteady gait, Dysmetria	OMIM:213200
Van Der Woude Syndrome 2	Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit	OMIM:606713
Geleophysic Dysplasia 1	Short long bone, Wrist flexion contracture, Joint stiffness, Wide mouth, Long philtrum, Cone-shap...	OMIM:231050
Chondrodysplasia Punctata 2, X-Linked Dominant	Kyphoscoliosis, Postnatal growth retardation, Rhizomelia, Epiphyseal stippling, Scoliosis, Hemive...	OMIM:302960
Hypocalcemic Vitamin D-Resistant Rickets	Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Abnormal form of the v...	ORPHA:93160
Hyperkalemic Periodic Paralysis	Myotonia	OMIM:170500
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Short nose, Hypospadias, Short philtrum, Anteverted nares, Scoliosis, Exaggerated cupid's bow, Cr...	OMIM:618316
Athyreosis	Abdominal distention, Constipation, Growth delay, Short stature, Feeding difficulties, Macroglossia	ORPHA:95713
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Postnatal growth retardation, Clinodactyly of the 5th finger, Relative macrocephaly,...	ORPHA:397590
Microcephaly 20, Primary, Autosomal Recessive	Intrauterine growth retardation, Hypoplasia of the uterus, Vaginal atresia, Short stature	OMIM:617914
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Retrognathia, Dental crowding, Pectus carinatum, Pulmonic stenosis, Leukopenia, Syndactyly, Lymph...	OMIM:620654
Trigonocephaly 1	Short nose, High, narrow palate, Lumbar hemivertebrae, Long penis, Long philtrum, Craniosynostosi...	OMIM:190440
Bainbridge-Ropers Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Retrognathia, Dental crowdin...	OMIM:615485
Silver-Russell Syndrome	Sandal gap, Dental crowding, Cachexia, Relative macrocephaly, Upper limb asymmetry, Intrauterine ...	ORPHA:813
Mosaic Trisomy 14	Narrow chest, Abnormal rib morphology, Lower limb asymmetry, Camptodactyly of finger, Frontal bos...	ORPHA:1703
Episodic Ataxia, Type 2	Myotonia	OMIM:108500
Non-Distal Duplication 13Q	Thin vermilion border, Short nose, Postaxial hand polydactyly, Everted lower lip vermilion, Abnor...	ORPHA:1702
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Prominent occiput, Dolichocephaly, ...	OMIM:618672
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Short femur, Short tibia, Talipes equinovarus	OMIM:620306
Proximal Symphalangism	Tarsal synostosis, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormality of...	ORPHA:3250
Cutis Laxa, Autosomal Recessive, Type Iia	Long philtrum, Short nose, Wide anterior fontanel, Scoliosis, Anteverted nares, High palate, Narr...	OMIM:219200
Xeroderma Pigmentosum, Complementation Group G	Microcephaly, Spasticity, Tremor, Ataxia	OMIM:278780
Glass Syndrome	Long nose, Dental crowding, Generalized osteoporosis, Arachnodactyly, Microcephaly, Long philtrum...	OMIM:612313
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Brachycephaly, Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Narrow chest, Wide ...	OMIM:207410
Donohue Syndrome	Postnatal growth retardation, Abdominal distention, Long foot, Thick lower lip vermilion, Severe ...	OMIM:246200
Charge Syndrome	Delayed puberty, Anosmia, Absent tibia, Microcephaly, Pulmonic stenosis, Abnormal palmar dermatog...	OMIM:214800
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o...	OMIM:300554
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Microcephaly, Small for gestational age, Pes planus, Wide nasal bridge	OMIM:618302
Pulmonary Arteriovenous Malformation	Ischemic stroke, Myocardial infarction, Gastrointestinal infarctions, Cyanosis, Liver abscess, Ir...	ORPHA:2038
Ovarian Fibroma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Odontogenic keratocysts of the jaw	ORPHA:314473
Baller-Gerold Syndrome	Short nose, Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the...	ORPHA:1225
Atrial Septal Defect, Ostium Primum Type	Third heart sound, Right-to-left shunt, Pulmonary arterial hypertension, Systolic heart murmur, F...	ORPHA:99106
Spondylometaphyseal Dysplasia, Sedaghatian Type	Turricephaly, Narrow chest, Short metacarpal, Rhizomelic arm shortening, Abnormal rib morphology,...	ORPHA:93317
Volvulus Of Midgut	Abdominal distention, Intestinal malrotation, Constipation, Volvulus, Neonatal intestinal obstruc...	OMIM:193250
Alg8-Cdg	Anemia, Premature skin wrinkling, Diarrhea, Camptodactyly, Vomiting, Failure to thrive, Thrombocy...	ORPHA:79325
Rapp-Hodgkin Syndrome	Microdontia, Bifid uvula, Syndactyly, Anhidrotic ectodermal dysplasia, Small, conical teeth, Narr...	OMIM:129400
Developmental And Epileptic Encephalopathy 95	Short 4th metacarpal, Long nose, Widely spaced teeth, Clinodactyly of the 5th finger, Hepatomegal...	OMIM:618143
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Tarsal synostosis, Fused cervical vertebrae, Hypoplastic nasal t...	OMIM:157800
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Plagiocephaly, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the ...	ORPHA:94066
Choanal Atresia	Polydactyly, Nasal congestion, Feeding difficulties, Craniosynostosis, Cyanosis, Chronic sinusitis	ORPHA:137914
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Aplasia/Hypoplasia of the radius, Ulnar bowing, Micromelia	ORPHA:1765
Seckel Syndrome	Convex nasal ridge, Clinodactyly of the 5th finger, Sandal gap, Prematurely aged appearance, Abno...	ORPHA:808
Poems Syndrome	Hepatomegaly, Erectile dysfunction, Metaphyseal sclerosis, Lymphadenopathy, Clubbing of fingers, ...	ORPHA:2905
Sporadic Fetal Brain Disruption Sequence	Plagiocephaly, Prominent occiput	ORPHA:1665
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Dislocated radial head, Mandibular condyle hypoplasia, Increased size of the clitoris, Deformed h...	ORPHA:2975
Non-Specific Early-Onset Epileptic Encephalopathy	Difficulty walking, Limb hypertonia, Spasticity, Tremor, Impulsivity, Involuntary movements, Micr...	ORPHA:442835
Becker Nevus Syndrome	Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Pectus excavatum, Lower limb a...	ORPHA:64755
Pseudohypoparathyroidism Type 1C	Short 4th metacarpal, Prolonged QT interval, Short metatarsal, Abdominal symptom, Delayed eruptio...	ORPHA:79444
Spastic Paraplegia 6, Autosomal Dominant	Spastic gait, Babinski sign, Lower limb spasticity, Tremor, Clonus, Spastic paraplegia	OMIM:600363
Arboleda-Tham Syndrome	Sandal gap, Bifid nasal tip, Pectus excavatum, Pulmonic stenosis, Microcephaly, Upper limb amyotr...	OMIM:616268
Weill-Marchesani Syndrome	Pulmonic stenosis, Aortic valve stenosis, Short stature, Short thumb, Brachydactyly, Mitral regur...	ORPHA:3449
Autosomal Dominant Spondylocostal Dysostosis	Spina bifida occulta, Prominent occiput, Short thorax, Missing ribs, Abnormal rib morphology, Pos...	ORPHA:1797
Neuronal Intranuclear Inclusion Disease	Tremor, Gait disturbance, Cognitive impairment, Rigidity, Ataxia, Dementia	OMIM:603472
Small Bowel Atresia	Abdominal distention, Vomiting, Failure to thrive, Short stature, Feeding difficulties, Intrauter...	ORPHA:1201
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ...	OMIM:202010
Mucopolysaccharidosis Type 3	Intermittent diarrhea, Reduced bone mineral density, Abnormal form of the vertebral bodies, Dysph...	ORPHA:581
Chitayat Syndrome	Anteverted nares, Pectus excavatum, Short stature, Thick vermilion border, Brachydactyly, Hallux ...	OMIM:617180
Spinocerebellar Ataxia 23	Limb ataxia, Babinski sign, Tremor, Gait ataxia, Dysmetria	OMIM:610245
Spinocerebellar Ataxia 50	Apraxia, Memory impairment, Chorea, Head tremor, Action tremor, Ataxia, Myoclonus, Postural tremor	OMIM:620158
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Wide nose, Severe postnatal growth retardation, Depressed nasal t...	ORPHA:2399
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Progressive psychomotor deterioration, Hyperactivity, Spasticity, Tremor, P...	ORPHA:363400
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Progressive cerebellar ataxia, Tremor, Dystonia, Myoclonus, Abnormal pyramidal sign, Talipes cavu...	ORPHA:139485
Rin2 Syndrome	Premature ovarian insufficiency, Abnormal sternum morphology, Gingival overgrowth, Scoliosis, Hig...	ORPHA:217335
Multiple Synostoses Syndrome 2	Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Wide nose, Humeroradial synostosis,...	OMIM:610017
X-Linked Dystonia-Parkinsonism	Bradykinesia, Difficulty walking, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with fav...	ORPHA:53351
Banki Syndrome	Clinodactyly of the 5th finger, Synostosis of carpal bones, Brachydactyly, Abnormal metacarpal mo...	ORPHA:1228
Bardet-Biedl Syndrome 9	Polydactyly, Irregular menstruation, Postaxial hand polydactyly, Postaxial polydactyly, Obesity, ...	OMIM:615986
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Brachycephaly, Plagiocephaly, Pes cavus, Genu valgum, Clinodactyly of the 5th finger, Prominent f...	OMIM:619721
Generalized Epilepsy With Febrile Seizures-Plus	Bradykinesia, Obsessive-compulsive trait, Incoordination, Poor fine motor coordination, Tremor, C...	ORPHA:36387
Urocanic Aciduria	Abnormal circulating histidine concentration, Broad-based gait, Truncal ataxia, Gait ataxia, Acti...	ORPHA:210128
Cole-Carpenter Syndrome 2	Osteopenia, Postnatal growth retardation, Lambdoidal craniosynostosis, Turricephaly, Macrocephaly...	OMIM:616294
Pseudohypoparathyroidism Type 1A	Reduced bone mineral density, Prolonged QT interval, Hypertension, Short metacarpal, Short 4th me...	ORPHA:79443
Primary Dystonia, Dyt2 Type	Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt...	ORPHA:99657
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Precocious puberty, Aplasia of the phalanges of the 3rd toe, Poly...	ORPHA:2229
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Hypertonia, Tremor, Gait ataxia, Microcephaly, Arachnodactyly, Ataxia, Syndactyly, Motor stereoty...	OMIM:619092
46,Xy Sex Reversal 1	Gonadal dysgenesis, Abnormal female external genitalia morphology, Absence of secondary sex chara...	OMIM:400044
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Dystonia, Frequent falls, Myoclonus	OMIM:619647
Fibrous Dysplasia Of Bone	Abnormal femur morphology, Osteolysis, Rickets, Abnormal clavicle morphology, Abnormal frontal bo...	ORPHA:249
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Babinski sign, Difficulty walking, Broad-based gait, Tremor, Spastic paraplegia, Microcephaly	ORPHA:477673
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Plagiocephaly, Broad foot, Short palm, Short foot	OMIM:614563
Mosaic Trisomy 16	Abnormality of the nose, Small for gestational age, Single transverse palmar crease, Intrauterine...	ORPHA:1708
Peters-Plus Syndrome	Bilobate gallbladder, Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Di...	OMIM:261540
Singleton-Merten Syndrome 1	Eruption failure, Short dental root, Expanded phalanges with widened medullary cavities, Aortic v...	OMIM:182250
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Gait disturbance	ORPHA:101075
Cooper-Jabs Syndrome	Brachycephaly, Reduced bone mineral density, Proximal placement of thumb, Abnormal hip bone morph...	ORPHA:1488
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Long philtrum, Short nose, Dental crowding, High palate, Narrow mouth, Camptodactyly, Bilateral t...	OMIM:615539
Cardiofacioneurodevelopmental Syndrome	Clinodactyly of the 5th finger, Camptodactyly, Kyphosis, Pulmonic stenosis, Microcephaly, Microgn...	OMIM:619123
Parkinsonism-Dystonia 2, Infantile-Onset	Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Dystonia, Ataxia, ...	OMIM:618049
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Finger syndactyly, Hypodontia, Adactyly, Split hand, High palate, ...	ORPHA:989
Chromosome 2P16.1-P15 Deletion Syndrome	Kyphoscoliosis, Retrognathia, Everted lower lip vermilion, Pectus excavatum, Microcephaly, Arachn...	OMIM:612513
Methemoglobinemia, Beta Type	Cyanosis, Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis, Methemoglobinemia	OMIM:617973
Osteogenesis Imperfecta, Type Xvii	Kyphoscoliosis, Reduced bone mineral density, Platyspondyly, Thin metacarpal cortices, Vertebral ...	OMIM:616507
Meier-Gorlin Syndrome 6	Delayed puberty, Short nose, Sandal gap, Tracheobronchomalacia, Anteverted nares, Underdeveloped ...	OMIM:616835
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Plagiocephaly, Macrocephaly, Low hanging columella, Anteverted nares, Scoliosis, Microcephaly, Pr...	ORPHA:500159
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus	OMIM:618587
Holoprosencephaly 9	Solitary median maxillary central incisor, Bilateral cleft palate, Hypoplasia of the premaxilla, ...	OMIM:610829
Behr Syndrome	Babinski sign, Truncal ataxia, Tremor, Progressive spasticity, Frequent falls, Gait disturbance, ...	OMIM:210000
Syngap1-Related Developmental And Epileptic Encephalopathy	Obsessive-compulsive trait, Tremor, Recurrent hand flapping, Gait disturbance, Postaxial polydact...	ORPHA:544254
Contractural Arachnodactyly, Congenital	Brachycephaly, Talipes equinovarus, Pectus carinatum, Bowing of the long bones, Congenital finger...	OMIM:121050
Neurodegeneration With Brain Iron Accumulation 5	Bradykinesia, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Spastic paraparesis, ...	OMIM:300894
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Acrodysplasia Scoliosis	Brachydactyly, Scoliosis, Vertebral segmentation defect, Spina bifida occulta	ORPHA:2956
Linear Nevus Sebaceus Syndrome	Plagiocephaly, Prominent occiput, Genu recurvatum, Vertebral segmentation defect, Biparietal narr...	ORPHA:2612
Mohr-Tranebjaerg Syndrome	Babinski sign, Oromandibular dystonia, Generalized dystonia, Inability to walk, Apraxia, Ankle cl...	ORPHA:52368
Bardet-Biedl Syndrome 17	Polydactyly, Mesoaxial polydactyly, Hyposmia, Postaxial hand polydactyly, Anosmia, Short fourth m...	OMIM:615994
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Failure to thrive, Hypertrophic cardiomyopathy, Cyanosis	ORPHA:91130
Leukocyte Adhesion Deficiency Type Ii	Severe periodontitis, Chronic diarrhea, Microcephaly, Intrauterine growth retardation, Overlappin...	ORPHA:99843
Arthrogryposis, Distal, Type 12	Clinodactyly of the 5th finger, Tapered distal phalanges of finger, Dental crowding, Agenesis of ...	OMIM:620545
Craniosynostosis 6	Brachycephaly, Plagiocephaly, Turricephaly, Spina bifida occulta, Bicoronal synostosis, Parietal ...	OMIM:616602
Thoracic Dysplasia-Hydrocephalus Syndrome	Abnormal metaphysis morphology, Narrow chest, Depressed nasal ridge, Short stature, Limb undergrowth	ORPHA:1861
Beta-Propeller Protein-Associated Neurodegeneration	Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Spastic paraparesis, Aggressive...	ORPHA:329284
Pfeiffer Syndrome Type 2	Short nose, Deviation of the thumb, Tracheomalacia, Short hallux, Finger syndactyly, Limitation o...	ORPHA:93259
Orofaciodigital Syndrome I	Radial deviation of finger, Hypertension, Microcephaly, Syndactyly, Tongue nodules, Clinodactyly,...	OMIM:311200
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Abnormal form of the vertebral bodies, Short thorax, Hyper...	ORPHA:3218
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi...	OMIM:113310
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Babinski sign, Difficulty walking, Incoordination, Tremor, Frequent falls, Parapare...	OMIM:302800
Ovarian Fibrothecoma	Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ...	ORPHA:314478
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Dolichocephaly, Wide nasal bridge, Dep...	OMIM:167730
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Abnormal nostril morphology, Broad finger, Retrognathia, Premature graying of hair, Postnatal gro...	OMIM:300845
Sepsis In Premature Infants	Decreased liver function, Bradycardia, Splenomegaly, Neutropenia, Jaundice, Petechiae, Abdominal ...	ORPHA:90051
Branchioskeletogenital Syndrome	Upper limb peromelia, Pectus excavatum, Microcephaly, Bifid uvula, Craniosynostosis, Abnormality ...	ORPHA:1299
Pallister-Hall Syndrome	Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Intrauter...	OMIM:146510
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Brachydactyly, Short distal phalanx of the thumb	ORPHA:2150
Crigler-Najjar Syndrome Type 1	Tremor, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Memory impairment	ORPHA:79234
Double Outlet Right Ventricle	Tachycardia, Narrow mouth, Aplasia/Hypoplasia of the thymus, Pulmonic stenosis, Failure to thrive...	ORPHA:3426
Sim1-Related Prader-Willi-Like Syndrome	Hypogonadism, Small scrotum, External genital hypoplasia, Premature pubarche, Scoliosis, Osteopor...	ORPHA:398079
Adult-Onset Distal Myopathy Due To Vcp Mutation	Difficulty walking, Fasciculations, Depression, Tremor, Frequent falls, Parkinsonism, Progressive...	ORPHA:329478
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Short nose, Clinodactyly of the 5th finger, Sandal gap, Scoliosis, Downturned corners of mouth, O...	OMIM:618430
Rauch-Steindl Syndrome	Postnatal growth retardation, Thin vermilion border, Hepatomegaly, Clinodactyly of the 5th finger...	OMIM:619695
Mullerian Aplasia And Hyperandrogenism	Increased circulating androstenedione concentration, Aplasia of the vagina, Abnormal external gen...	OMIM:158330
3Mc Syndrome 2	Postnatal growth retardation, Limited elbow movement, Caudal appendage, Abnormal vertebral morpho...	OMIM:265050
Wolman Disease	Abdominal distention, Steatorrhea, Hepatomegaly, Anemia, Nausea and vomiting, Cachexia, Bone-marr...	ORPHA:75233
Fg Syndrome 5	Short nose, Hypospadias, Anteverted nares, Long philtrum, Diastema, Depressed nasal bridge	OMIM:300581
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Delayed puberty, Short nose, Scoliosis, Mandibular prognathia, Micrognathia, Hip dysplasia, Crypt...	ORPHA:496790
Schinzel-Giedion Midface Retraction Syndrome	Tibial bowing, Abnormal nasopharynx morphology, Small scrotum, Short distal phalanx of finger, In...	OMIM:269150
Marbach-Schaaf Neurodevelopmental Syndrome	Plagiocephaly, Microcephaly, Downturned corners of mouth, Obesity, Broad nasal tip, Brachydactyly...	OMIM:619680
Intellectual Developmental Disorder, X-Linked 21	Short nose, Dental crowding, Mandibular prognathia, Tented upper lip vermilion, Open mouth, Joint...	OMIM:300143
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia, Dysphagia	OMIM:618637
Perry Syndrome	Bradykinesia, Inappropriate behavior, Akinesia, Frontotemporal dementia, Depression, Tremor, Rigi...	OMIM:168605
Warburg Micro Syndrome 3	Narrow palate, Kyphoscoliosis, Short nose, Postnatal growth retardation, Clinodactyly of the 5th ...	OMIM:614222
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Pectus excavatum, Trigonocephaly, Microcephaly, Wide mouth, Long philtrum, Craniosynostosis, Over...	OMIM:309590
Craniofacioskeletal Syndrome	Clinodactyly of the 5th finger, Barrel-shaped chest, Short philtrum, Narrow iliac wing, Choanal a...	OMIM:300712
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Asbestos Intoxication	Mediastinal lymphadenopathy, Clubbing of fingers, Oxygen desaturation on exertion, Hypoxemia, Rig...	ORPHA:2302
Harel-Yoon Syndrome	Short nose, Scoliosis, Mandibular prognathia, Micrognathia, Hip dysplasia, Talipes equinovalgus	OMIM:617183
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Short clavicles, Dental crowding, Osteolytic defects of the distal phalanges of the h...	OMIM:608612
Autosomal Recessive Faciodigitogenital Syndrome	Brachycephaly, Short nose, Clinodactyly of the 5th finger, Finger syndactyly, Anteverted nares, O...	ORPHA:1974
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Progressive psychomotor deterioration, Oculomotor apraxia, Spasticity, Tremor, Poor motor coordin...	ORPHA:1170
Absent Eyebrows And Eyelashes With Mental Retardation	Convex nasal ridge, Short nose	OMIM:200130
Necrotizing Enterocolitis	Abdominal distention, Neutropenia, Bradycardia, Abdominal rigidity, Diarrhea, Hypoactive bowel so...	ORPHA:391673
Fraser Syndrome 1	Cleft ala nasi, Aplasia/Hypoplasia of the thumb, Wide nose, Dental crowding, Underdeveloped nasal...	OMIM:219000
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s...	ORPHA:325124
Presynaptic Congenital Myasthenic Syndromes	Kyphoscoliosis, Pes cavus, Distal lower limb muscle weakness, Gastroesophageal reflux, Pectus car...	ORPHA:98914
Congenital Myasthenic Syndrome	Kyphoscoliosis, Pes cavus, Distal lower limb muscle weakness, Gastroesophageal reflux, Pectus car...	ORPHA:590
4H Leukodystrophy	Abnormality of extrapyramidal motor function, Mental deterioration, Dysdiadochokinesis, Tremor, U...	ORPHA:289494
Pseudodiastrophic Dysplasia	Brachycephaly, Rhizomelia, Camptodactyly, Frontal bossing, Micrognathia, Hypoplasia of the odonto...	OMIM:264180
Myopathy With Extrapyramidal Signs	Difficulty walking, Hypervalinemia, Abnormality of extrapyramidal motor function, Chorea, Hyperac...	OMIM:615673
Robinow-Sorauf Syndrome	Plagiocephaly, Broad thumb, Broad hallux, Pansynostosis, Craniosynostosis, Hallux valgus, Duplica...	OMIM:180750
Trisomy 12P	Short nose, Clinodactyly of the 5th finger, Everted lower lip vermilion, Short stature, Downturne...	ORPHA:1699
Classic Glucose Transporter Type 1 Deficiency Syndrome	Progressive microcephaly, Cyanosis, Abnormal erythrocyte morphology	ORPHA:71277
Aceruloplasminemia	Chorea, Gait ataxia, Cognitive impairment, Aceruloplasminemia, Rigidity, Ataxia, Decreased circul...	ORPHA:48818
Cutis Laxa, Autosomal Recessive, Type Iic	Kyphoscoliosis, Dental crowding, Long philtrum, Overlapping toe, Aortic regurgitation, Anteverted...	OMIM:617402
Floating-Harbor Syndrome	Kyphoscoliosis, Long nose, Dislocated radial head, Short metacarpal, Microdontia, Wide mouth, Cli...	ORPHA:2044
Osteopetrosis, Autosomal Dominant 1	Mandibular pain, Osteopetrosis, Calvarial osteosclerosis, Abnormal pelvic girdle bone morphology,...	OMIM:607634
Progressive Osseous Heteroplasia	Ectopic ossification in muscle tissue, Brachydactyly	ORPHA:2762
Down Syndrome	Bilateral single transverse palmar creases, Delayed puberty, Sandal gap, Microdontia, Narrow pala...	ORPHA:870
9Q21.13 Microdeletion Syndrome	Polydactyly, Postnatal growth retardation, Talipes, Abnormal tongue morphology, Scoliosis, Verteb...	ORPHA:531151
Goldberg-Shprintzen Syndrome	Clinodactyly of the 5th finger, Aortic regurgitation, Short philtrum, Oligodontia, Everted lower ...	OMIM:609460
Hydrolethalus	Micrognathia, Postaxial hand polydactyly, Abnormality of the sense of smell, Micromelia	ORPHA:2189
Osteogenesis Imperfecta, Type Viii	Osteopenia, Barrel-shaped chest, Vertebral compression fracture, Slender long bone, Femoral retro...	OMIM:610915
Short Stature, Microcephaly, And Endocrine Dysfunction	Pes cavus, Long nose, Anemia, Disproportionate short-limb short stature, Tooth malposition, Micro...	OMIM:616541
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Thick vermilion border, Macrodontia of permanent maxillary central incisor, Open mouth, Exaggerat...	OMIM:620114
Monosomy 22Q13.3	Macrocephaly, Clinodactyly of the 5th finger, Gastroesophageal reflux, Dental crowding, Obesity, ...	ORPHA:48652
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Short nose, Gastroesophageal reflux, Gastroparesis, Chronic diarrhea, Hyperextensibility at elbow...	ORPHA:500150
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Retrognathia, Dental crowding, Short metacarpal, Microcephaly, Long philtrum, Short distal phalan...	OMIM:617157
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Tricuspid regurgitation, Obesity, Brachydactyly	OMIM:600151
Cherubism	Narrow palate, Marcus Gunn pupil, Oligodontia, Jaw swelling, Dental malocclusion, Multiple impact...	OMIM:118400
Oculodentodigital Dysplasia	Joint contracture of the 5th finger, Broad alveolar ridges, Microdontia, Clinodactyly, Narrow nos...	OMIM:164200
Lethal Congenital Contracture Syndrome 10	Narrow palate, Convex nasal ridge, Narrow chest, Short long bone, Femoral bowing, High palate, Hy...	OMIM:617022
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Intrauterine growth...	ORPHA:60041
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Short nose, Low insertion of columella, Dental crowding, Scoliosis, Anteverted nares, High palate...	OMIM:619005
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Genu valgum, Progressive microcephaly, Dysphagia, Failure to thrive in infancy, Cyanosis	ORPHA:488627
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Thick lower lip vermilion, Anteverted nares, Underdeveloped nasal alae, Narrow mouth, Frontal bos...	OMIM:608624
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Relapsing Polychondritis	Myocarditis, Large vessel vasculitis, Purpura, Recurrent aphthous stomatitis, Biparietal narrowin...	ORPHA:728
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Gait disturbance	ORPHA:101078
Schisis Association	Micromelia	ORPHA:63862
Spinocerebellar Ataxia, Autosomal Recessive 13	Inability to walk, Dysdiadochokinesis, Tremor, Gait ataxia, Ataxia, Abnormal pyramidal sign, Dysm...	OMIM:614831
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Spinocerebellar Ataxia 2	Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc...	OMIM:183090
Congenital Disorder Of Glycosylation, Type Iu	Short nose, Scoliosis, High palate, Congenital contracture, Micrognathia, Thin upper lip vermilion	OMIM:615042
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology, Cholelithiasis, Wide anterior fontanel, Poor suck, Cranial asy...	OMIM:614886
Lethal Omphalocele-Cleft Palate Syndrome	Retrognathia, Cleft soft palate, Bifid uvula, Bifid uterus, Cleft palate, Unilateral cleft lip	ORPHA:2736
Hand-Foot-Genital Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux...	OMIM:140000
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Fibular bowing, Tibial bowing, Femoral bowing, Metaphyseal chondrod...	ORPHA:85165
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Babinski sign, Hypertonia, Difficulty walking, Progressive cerebellar ataxia, Truncal ataxia, Poo...	ORPHA:137898
Hereditary Methemoglobinemia	Lip discoloration, Microcephaly, Cyanosis, Small for gestational age, Methemoglobinemia	ORPHA:621
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Short nose, Interphalangeal thumb joint contracture, Prominent nasal bridge, Flexion contracture,...	OMIM:613870
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, H...	OMIM:266920
Methylcobalamin Deficiency Type Cble	Postnatal growth retardation, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume,...	ORPHA:2169
Congenital Muscular Dystrophy, Fukuyama Type	Brachycephaly, Plagiocephaly, Pectus excavatum, Camptodactyly of finger, Dolichocephaly	ORPHA:272
Phosphoserine Aminotransferase Deficiency	Secondary microcephaly, Feeding difficulties, Cyanotic episode	OMIM:610992
Bardet-Biedl Syndrome 1	Radial deviation of finger, Dental crowding, Hypertension, Biliary tract abnormality, Syndactyly,...	OMIM:209900
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Scoliosis, Short stature, Failure to thrive, Female infertility	OMIM:619518
16P11.2P12.2 Microdeletion Syndrome	Bilateral single transverse palmar creases, Orofacial cleft, Long nose, Short nose, Proximal plac...	ORPHA:261211
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Anterior open-bite malocclusion, Hashimoto thyroiditis, Hypothyroidism, Goiter	ORPHA:83601
Macrocephaly-Intellectual Disability-Autism Syndrome	Short nose, Foot polydactyly, Preaxial hand polydactyly, Penile freckling, Depressed nasal bridge	ORPHA:210548
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Short st...	ORPHA:988
Idiopathic Camptocormia	Fatty replacement of skeletal muscle, Myositis, EMG: myopathic abnormalities, Proximal spinal mus...	ORPHA:1320
Boomerang Dysplasia	Fibular aplasia, Hypoplastic nasal septum, Hypoplastic iliac body, Neonatal death, Severe short s...	OMIM:112310
Charcot-Marie-Tooth Disease And Deafness	Steppage gait, Hammertoe, Tremor, Split hand, Gait disturbance	OMIM:118300
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Babinski sign, Gait imbalance, Oculomotor apraxia, Elevated circulating creatine kinase concentra...	ORPHA:64753
Leukodystrophy, Hypomyelinating, 10	Thin vermilion border, Short nose, Anteverted nares, Arachnodactyly, Failure to thrive, Malar fla...	OMIM:616420
Adnp Syndrome	Sandal gap, Abnormal finger morphology, Broad thumb, Trigonocephaly, Microcephaly, Abnormal toe m...	ORPHA:404448
Ataxia With Vitamin E Deficiency	Hypertonia, Dysdiadochokinesis, Tremor, Gait disturbance, Hemiplegia/hemiparesis, Dystonia, Ataxi...	ORPHA:96
Sanjad-Sakati Syndrome	Postnatal growth retardation, Thin vermilion border, Hypoplasia of penis, Abnormal dental enamel ...	ORPHA:2323
Spinocerebellar Ataxia, Autosomal Recessive 31	Clinodactyly of the 5th finger, Bruxism, Tremor, Dystonia, Ataxia, Dysphagia, Choreoathetosis, Se...	OMIM:619422
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Short nose, Narrow nasal bridge, Low hanging columella, Anteverted nares, Scoliosis, High palate,...	OMIM:619383
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Short thorax, Short long bone, Vertebral segmentation defect, Talipes equinovarus, Vertebral fusion	OMIM:618845
Lacrimoauriculodentodigital Syndrome 1	Microdontia, Bilateral triphalangeal thumbs, Absent radius, Delayed eruption of primary teeth, Hy...	OMIM:149730
Parkinson Disease 1, Autosomal Dominant	Bradykinesia, Dementia, Resting tremor, Depression, Shuffling gait, Gait disturbance, Rigidity, D...	OMIM:168601
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries	ORPHA:2795
Dyskeratosis Congenita	Premature graying of hair, Neoplasm of the pancreas, Bone marrow hypocellularity, Splenomegaly, I...	ORPHA:1775
Dysosteosclerosis	Diaphyseal undertubulation, Clavicular sclerosis, Abnormal metaphyseal trabeculation, Narrow ches...	OMIM:224300
Acromelic Frontonasal Dysplasia	Brachycephaly, Patellar hypoplasia, Bifid nasal tip, Thick nasal alae, Median cleft palate, Aplas...	ORPHA:1827
Intellectual Developmental Disorder, Autosomal Recessive 78	Kyphoscoliosis, Retrognathia, Clinodactyly of the 5th finger, Cubitus valgus, Narrow chest, High ...	OMIM:620237
3Q29 Microdeletion Syndrome	Orofacial cleft, Short nose, Clinodactyly of the 5th finger, Hypospadias, Short philtrum, Dental ...	ORPHA:65286
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Rocker bottom foot, Short nose, Brachycephaly, Pectus excavatum of inferior sternum, Superior pec...	OMIM:601353
Micro Syndrome	Delayed puberty, Short nose, Short philtrum, Hypoplasia of penis, Anteverted nares, Scoliosis, Hy...	ORPHA:2510
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Turricephaly, Crumpled long bones, Bowing of the long bones, Abno...	ORPHA:2050
Dentatorubral Pallidoluysian Atrophy	Limb ataxia, Oromandibular dystonia, Progressive cerebellar ataxia, Dyssynergia, Memory impairmen...	ORPHA:101
Ritscher-Schinzel Syndrome 2	Convex nasal ridge, Postnatal growth retardation, Clinodactyly of the 5th finger, Short philtrum,...	OMIM:300963
Limb-Mammary Syndrome	Cleft hard palate, Clinodactyly of the 5th finger, Breast aplasia, 3-4 finger cutaneous syndactyl...	ORPHA:69085
Mosaic Variegated Aneuploidy Syndrome 1	Postnatal growth retardation, Short nose, Hypospadias, Triangular mouth, Wide nose, Anteverted na...	OMIM:257300
Pyruvate Dehydrogenase E1-Alpha Deficiency	Pes cavus, Talipes, Gastroesophageal reflux, Single transverse palmar crease, Microcephaly, Limb ...	ORPHA:79243
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Thin vermilion border, Clinodactyly of the 2nd finger, Conical incisor, Hyperlordosis...	ORPHA:73223
Aneurysm-Osteoarthritis Syndrome	Retrognathia, Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Arachnodactyly, Bifid uvula,...	ORPHA:284984
Brachyolmia Type 3	Radial deviation of finger, Barrel-shaped chest, Short femoral neck, Proximal femoral metaphyseal...	OMIM:113500
Glycosylphosphatidylinositol Biosynthesis Defect 15	Inability to walk, Apraxia, Spasticity, Tremor, Gait ataxia, Dysmetria	OMIM:617810
Insulin-Like Growth Factor I Deficiency	Osteopenia, Postnatal growth retardation, Clinodactyly of the 5th finger, Decreased body weight, ...	OMIM:608747
Kallmann Syndrome	Decreased fertility, Delayed puberty, Breast hypoplasia, Erectile dysfunction, Anterior hypopitui...	ORPHA:478
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat...	OMIM:228300
Dravet Syndrome	Cyanotic episode, Limited knee extension, Tibial torsion, Pes planus, Pes valgus	ORPHA:33069
Dent Disease 1	Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement ...	OMIM:300009
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Turricephaly, Prominent occiput, Prominent fingertip pads, Pectus excavatum, Microdontia, Broad t...	OMIM:612474
Acute Transverse Myelitis	Distal lower limb muscle weakness, Gastroparesis, Upper limb muscle weakness, Constipation, Paral...	ORPHA:139417
Viss Syndrome	Rocker bottom foot, Retrognathia, Chronic diarrhea, Pectus carinatum, Pectus excavatum, Kyphosis,...	OMIM:619472
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Kyphoscoliosis, Femoral bowing, Tibial bowing, Short metacarpal, Short ribs, ...	OMIM:304120
Dental Anomalies And Short Stature	Amelogenesis imperfecta, Widely spaced teeth, Mandibular prognathia, Oligodontia, Scoliosis, Micr...	OMIM:601216
Facial Paresis, Hereditary Congenital, 3	Short nose, Short philtrum, Anteverted nares, High palate, Downturned corners of mouth, Micrognat...	OMIM:614744
Hydrolethalus Syndrome 1	Stillbirth, Midline defect of the nose, Accessory spleen, Upper limb undergrowth, Postaxial hand ...	OMIM:236680
Spinocerebellar Ataxia Type 21	Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Ga...	ORPHA:98773
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Large for gestational age, Macrocephaly, Lactose intolerance, Frontal bossing, Wide mouth, Thorac...	ORPHA:457485
Functioning Gonadotropic Adenoma	Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h...	ORPHA:91348
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Postnatal growth retardation, Thin vermilion border, Severe intrauterine growth retardation, Patc...	OMIM:241410
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Conical incisor, Carious teeth, Enamel hypoplasia	OMIM:614564
Leopard Syndrome 1	Delayed puberty, Hypospadias, Spina bifida occulta, Hypoplasia of the ovary, Mandibular prognathi...	OMIM:151100
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Camptodactyly, Micrognathia, Malar flattening, Dental malocclusion, Joint contracture of the hand	OMIM:608257
Lathosterolosis	2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Ambiguous genitalia, male, Butterfly ...	OMIM:607330
Spinocerebellar Ataxia, Autosomal Recessive 21	Limb ataxia, Spasticity, Tremor, Frequent falls, Gait ataxia, Talipes equinovarus	OMIM:616719
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Abdominal distention, Hepatomegaly, Diarrhea, Biliary tract obstruction, Intrahepatic c...	ORPHA:100085
Marden-Walker Syndrome	Postnatal growth retardation, High, narrow palate, Wide anterior fontanel, Anteverted nares, Scol...	OMIM:248700
Tbck-Related Intellectual Disability Syndrome	Broad finger, High, narrow palate, Macrocephaly, 11 pairs of ribs, Broad toe, 2-3 toe syndactyly,...	ORPHA:488632
Fanconi Anemia, Complementation Group F	Hypoplasia of the radius, Anemia, Microcephaly, Failure to thrive, Bone marrow hypocellularity, S...	OMIM:603467
Williams-Beuren Syndrome	Kyphoscoliosis, Premature graying of hair, Hypertension, Pectus excavatum, Microdontia, Pulmonic ...	OMIM:194050
Burkitt Lymphoma	Neoplasm of the oral cavity, Abnormality of the ovary	ORPHA:543
Peritoneal Cystic Mesothelioma	Abdominal distention, Abdominal pain, Dyspareunia, Constipation, Menorrhagia, Peritonitis, Weight...	ORPHA:168816
Trisomy 8Q	Orofacial cleft, Deep palmar crease, Bone cyst, Non-midline cleft of the upper lip, High palate, ...	ORPHA:1752
Congenital Myopathy 22B, Severe Fetal	Retrognathia, Spinal rigidity, Dental crowding, Triangular mouth, Short philtrum, Scoliosis, Elbo...	OMIM:620369
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Progressive microcephaly, Widely-spaced incisors, Hypoplasia of the maxilla, Smooth philtrum, Bul...	OMIM:618737
5Q14.3 Microdeletion Syndrome	Short nose, Short philtrum, Anteverted nares, Open mouth, Toe syndactyly	ORPHA:228384
Hirschsprung Disease, Susceptibility To, 1	Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente...	OMIM:142623
Arthrogryposis, Distal, Type 4	Equinovarus deformity, Tibial deviation of toes, Camptodactyly of 2nd-5th fingers, Cranial asymme...	OMIM:609128
Melanocytic Nevus Syndrome, Congenital	Short nose, Narrow nasal ridge, Anteverted nares, Everted lower lip vermilion, Broad nasal tip, O...	OMIM:137550
Fraser Syndrome	Abnormal vagina morphology, Hypoplasia of penis, Dental crowding, Small scrotum, Hypospadias, Cle...	ORPHA:2052
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Increased serum pyruvate, Episodic ataxia, Hyperalaninemia, Microcephaly, Dystonia, Myocl...	OMIM:312170
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cervical C2/C3 vertebral fusion, Glossoptosis, Microcephaly, Long philtrum, Fibular hypoplasia, A...	ORPHA:444077
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Paget disease of bone, Scapular winging, Abnormal pelvic girdle bone morphology, Lumbar hyperlord...	OMIM:167320
Corneodermatoosseous Syndrome	Abnormality of the hand, Abnormal metacarpal morphology, Abnormal dental enamel morphology, Abnor...	ORPHA:3194
Pyruvate Dehydrogenase Deficiency	Osteolytic defects of the middle phalanx of the 4th toe, Spasticity, Tremor, Cerebral palsy, Gait...	ORPHA:765
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay...	ORPHA:52901
Al-Gazali Syndrome	Osteopenia, Gastrojejunal tube feeding in infancy, Broad distal phalanx of finger, Bowed humerus,...	OMIM:609465
Congenital Heart Defects And Ectodermal Dysplasia	Brachycephaly, Deep plantar creases, 2-3 toe cutaneous syndactyly, Broad thumb, Frontal bossing	OMIM:617364
Pterygium Colli, Isolated	Short nose	OMIM:177990
Pontocerebellar Hypoplasia, Type 10	Kyphoscoliosis, Short nose, Widely spaced teeth, Low hanging columella, High palate, Bulbous nose...	OMIM:615803
Otodental Syndrome	Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d...	ORPHA:2791
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia	OMIM:617836
Microphthalmia, Syndromic 9	Bicornuate uterus, Short stature, Micrognathia, Severe short stature, Intrauterine growth retarda...	OMIM:601186
Weill-Marchesani Syndrome 3	Pulmonic stenosis, Aortic valve stenosis, Brachydactyly, Short stature	OMIM:614819
Miller-Dieker Lissencephaly Syndrome	Polydactyly, Short nose, Sacral dimple, Clinodactyly of the 5th finger, Deep palmar crease, Delay...	OMIM:247200
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Abnormal hip bone morphology, Mandibular prognathia, Narrow mouth, Microcephaly, Carious teeth, D...	ORPHA:1110
Trisomy 8P	Clinodactyly of the 5th toe, Retrognathia, Clinodactyly of the 2nd finger, Microcephaly, Bifid uv...	ORPHA:264450
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short nose, Scoliosis, Short stature, Short neck, Downturned corners of mouth, Cleft palate, Micr...	OMIM:618571
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Abdominal distention, Polycystic liver disease	OMIM:174050
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Chorea, Exaggerated startle response, Cog...	ORPHA:309246
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Plagiocephaly, Micrognathia, Pectus excavatum, Cervical ribs	ORPHA:77300
Duane Retraction Syndrome	Hypoplasia of the radius, Plagiocephaly, Triphalangeal thumb, Spina bifida occulta, Aplasia/Hypop...	ORPHA:233
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Retrognathia, Sandal gap, Joint contracture of the 5th finger, 2-3 toe syndactyly, Mandibular pro...	OMIM:618914
Noonan Syndrome	Pectus carinatum, Enlarged thorax, Pectus excavatum, Scoliosis, Short stature, Radioulnar synosto...	ORPHA:648
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Bradykinesia, Oculogyric crisis, Limb hypertonia, Tremor, Cerebral palsy, Cognitive impairment, M...	ORPHA:70594
Parkinson Disease 20, Early-Onset	Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Rigidity, Dystonia...	OMIM:615530
Geleophysic Dysplasia 2	Short nose, Limitation of joint mobility, Short foot, Joint stiffness, Short palm, Short stature,...	OMIM:614185
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Hepatomegaly, Gastroesophageal reflux, Pulmonary arterial hypertension,...	ORPHA:2414
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal vestibulo-ocular reflex, Babinski sign, Akinesia, Memory impairment, Resting tremor, Spa...	ORPHA:247234
Desmoplastic Small Round Cell Tumor	Abdominal distention, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal p...	ORPHA:83469
Myoclonic-Astatic Epilepsy	Abnormal emotion, Hyperactivity, Tremor, Microcephaly, Abnormal pyramidal sign, Ataxia, Syndactyl...	ORPHA:1942
Johanson-Blizzard Syndrome	Abnormal nostril morphology, Abnormality of the female genitalia, Short nose, Hypospadias, Hypopl...	ORPHA:2315
Frontorhiny	Scoliosis, Midline nasal groove, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Camptoda...	ORPHA:391474
Treacher-Collins Syndrome	Retrognathia, Glossoptosis, Tooth agenesis, Wide mouth, Multiple enchondromatosis, Choanal atresi...	ORPHA:861
Holoprosencephaly	Solitary median maxillary central incisor, Abnormal form of the vertebral bodies, Anosmia, Tooth ...	ORPHA:2162
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, B lymphocytopenia, Failure to thrive, Thrombocytopenia, Brachydactyly, Decreased...	OMIM:618048
Nabais Sa-De Vries Syndrome, Type 1	Short nose, Sacral dimple, Clinodactyly of the 5th finger, Prominent nasal bridge, Smooth philtru...	OMIM:618828
Congenital Short Bowel Syndrome	Abdominal distention, Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, C...	OMIM:615237
Idiopathic Pulmonary Fibrosis	Pulmonary insufficiency, Orthodeoxia, Gastroesophageal reflux, Clubbing of fingers, Acrocyanosis	ORPHA:2032
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Pseudohypoparathyroidism, Type Ib	Obesity, Short metacarpal, Brachydactyly	OMIM:603233
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Aplasia of the epiglottis, Hepatomegaly, Narrow chest, Short clavicles, Shor...	OMIM:617088
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Retrognathia, Distal shortening of limbs, Wide nasal base, Spina bifida occulta, Abno...	ORPHA:488434
X-Linked Hypophosphatemia	Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,...	ORPHA:89936
Parkinson Disease 17	Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism	OMIM:614203
Secondary Short Bowel Syndrome	Abdominal distention, Steatorrhea, Diarrhea, Small intestinal dysmotility, Cholestasis, Vomiting,...	ORPHA:95427
Ayme-Gripp Syndrome	Brachycephaly, Long philtrum, Short nose, Mandibular prognathia, Narrow mouth, Abnormality of the...	OMIM:601088
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Kyphoscoliosis, Radial deviation of finger, Hypoplastic philtrum, Microcephaly, Wide mouth, Hypog...	OMIM:309580
Cree Mental Retardation Syndrome	Brachycephaly, Rocker bottom foot, Pectus excavatum, Cutaneous finger syndactyly, Aplasia/Hypopla...	OMIM:606851
Alkuraya-Kucinskas Syndrome	Overlapping fingers, Short nose, Abnormal foot morphology, Anteverted nares, High palate, Camptod...	OMIM:617822
Hirschsprung Disease With Type D Brachydactyly	Short thumb, Type D brachydactyly	OMIM:306980
Cornelia De Lange Syndrome	Bilateral single transverse palmar creases, Delayed puberty, Proximal placement of thumb, Oligoda...	ORPHA:199
Ring Chromosome 7 Syndrome	Severe intrauterine growth retardation, Bifid uvula, Hypogonadism, Short 5th finger, Hypospadias,...	ORPHA:1449
Linear Skin Defects With Multiple Congenital Anomalies 2	Long philtrum, Short nose, Sandal gap, Short stature	OMIM:300887
Alg12-Cdg	Abnormal bone ossification, Proximal placement of thumb, Sandal gap, Progressive microcephaly, Sh...	ORPHA:79324
Primrose Syndrome	Delayed puberty, Reduced bone mineral density, Pectus excavatum, Kyphosis, Generalized osteoporos...	OMIM:259050
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Tremor, Ataxia	ORPHA:1368
Witteveen-Kolk Syndrome	Radial deviation of finger, Proximal placement of thumb, Microcephaly, Arachnodactyly, Long philt...	OMIM:613406
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Abnormal subcutaneous fat tissue distribution, Short nose, Postnatal growth retardation, Excessiv...	ORPHA:357074
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Babinski sign, Spasticity, Tremor, Dystonia, Ataxia, Loss of ambulation, Dysphagia, Postural trem...	OMIM:607694
Osteopetrosis, Autosomal Dominant 2	Osteopetrosis, Fractures of the long bones, Abnormal pelvic girdle bone morphology, Bone marrow h...	OMIM:166600
Pfeiffer Syndrome Type 3	Short nose, Tracheomalacia, Short hallux, Finger syndactyly, Limitation of joint mobility, High p...	ORPHA:93260
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Oculomotor apraxia, Transient hyperphenylalaninemia, Hyperactivity, Spasticity...	OMIM:612716
Osteogenesis Imperfecta, Type Xviii	Vertebral compression fracture, Femoral bowing, Bowing of the long bones, Abnormality of the dent...	OMIM:617952
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Abdominal distention, Intestinal pseudo-obstruction, Increased size of the mandible, Congenital s...	OMIM:300048
Kaufman Oculocerebrofacial Syndrome	Clitoral hypertrophy, Anteverted nares, Short stature, Carious teeth, Failure to thrive, Thin upp...	OMIM:244450
Orofacial Cleft 15	Palate fistula, Bilateral cleft palate, Cryptorchidism, Agenesis of lateral incisor, Bilateral cl...	OMIM:616788
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Short digit, Abnormal hand morphology, Clinodactyly of the 5th finger, Short 5th metacarpal	ORPHA:228190
Chromosome 16P13.3 Duplication Syndrome	Rocker bottom foot, Proximal placement of thumb, Sandal gap, Tracheobronchomalacia, Microdontia, ...	OMIM:613458
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Rocker bottom foot, Decreased circulating androstenedione concentration, Clitoral hypertrophy, De...	OMIM:201750
Osteogenesis Imperfecta, Type Vii	Osteopenia, Rhizomelia, Crumpled long bones, Vertebral compression fracture, Femoral retroversion...	OMIM:610682
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Long nose, Short nose, Slender long bone, Scoliosis, High palate, Downturned corners ...	OMIM:618590
Alg9-Cdg	Narrow greater sciatic notch, Rhizomelia, Torticollis, Flared metaphysis, Hypoplasia of the ovary...	ORPHA:79328
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly, Broad distal phalanx of finger, Proximal placement of thumb, Plantar edema, Enlarg...	ORPHA:2988
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Retrognathia, Reduced bone mineral density, Kyphosis, Abnormal forearm bone morp...	ORPHA:99413
Mosaic Monosomy X	Delayed puberty, Retrognathia, Reduced bone mineral density, Kyphosis, Abnormal forearm bone morp...	ORPHA:99228
Monosomy X	Delayed puberty, Retrognathia, Reduced bone mineral density, Kyphosis, Abnormal forearm bone morp...	ORPHA:99226
Turner Syndrome	Delayed puberty, Retrognathia, Reduced bone mineral density, Kyphosis, Abnormal forearm bone morp...	ORPHA:881
Pierpont Syndrome	Brachycephaly, Short finger, Prominent fingertip pads, Short toe, Pes planus, Abnormality of the ...	ORPHA:487825
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Retrognathia, High, narrow palate, Short philtrum, High palate, Growth delay, Micrognathia, Brach...	OMIM:620156
Okur-Chung Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Anteverted nares, Scoliosis, Single transverse palmar crease, Hig...	OMIM:617062
1P36 Deletion Syndrome	Kyphosis, Microcephaly, Dysphagia, Hypogonadism, Long philtrum, Hepatic steatosis, Telangiectasia...	ORPHA:1606
Jacobsen Syndrome	Short nose, Annular pancreas, Macrocephaly, Clinodactyly of the 5th finger, Anteverted nares, Pec...	OMIM:147791
Parkinson Disease, Late-Onset	Bradykinesia, Resting tremor, Depression, Tremor, Rigidity, Dystonia, Parkinsonism, Dysphagia, De...	OMIM:168600
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Brachycephaly, Frontal bossing, Pectus excavatum, Craniosynostosis	ORPHA:314575
Tay-Sachs Disease	Fasciculations, Incoordination, Decerebrate rigidity, Dysphagia, Myoclonus, Clumsiness, Mania, Me...	ORPHA:845
Intellectual Developmental Disorder, X-Linked 98	Long nose, Short philtrum, Episodic vomiting, Anteverted nares, Failure to thrive, Feeding diffic...	OMIM:300912
Premature Ovarian Failure 20	Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati...	OMIM:619938
Gómez-López-Hernández Syndrome	Brachycephaly, Turricephaly	ORPHA:1532
Warburg Micro Syndrome 2	Postnatal growth retardation, Clinodactyly of the 5th toe, Short nose, Clinodactyly of the 4th to...	OMIM:614225
Combined Oxidative Phosphorylation Deficiency 25	Short nose, Anteverted nares, Short stature, Failure to thrive, Syndactyly, Smooth philtrum, Long...	OMIM:616430
Trisomy 13	Bilateral single transverse palmar creases, High, narrow palate, Narrow chest, Scoliosis, Postaxi...	ORPHA:3378
Trisomy 10P	Retrognathia, Intrauterine growth retardation, Abnormality of the hand, Ulnar deviated club hands...	ORPHA:171929
Postsynaptic Congenital Myasthenic Syndromes	Scoliosis, Thoracic kyphoscoliosis, High palate, Triceps weakness, Abnormality of the musculature...	ORPHA:98913
Hypermanganesemia With Dystonia 1	Bradykinesia, Steppage gait, Increased total iron binding capacity, Abnormality of extrapyramidal...	OMIM:613280
Leukodystrophy, Hypomyelinating, 6	Oculomotor apraxia, Spasticity, Tremor, Microcephaly, Rigidity, Dystonia, Ataxia, Choreoathetosis	OMIM:612438
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypospadias, Ovotestis, Short stature, Chordee, Cleft palate, Micropenis, H...	OMIM:309801
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly, Talipes equinovarus	OMIM:619972
2Q32Q33 Microdeletion Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Broad thumb, Arachnodactyly, Toe clinodactyly, Mic...	ORPHA:251019
8Q12 Microduplication Syndrome	Brachycephaly, Short foot	ORPHA:228399
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short nose, Short philtrum, Delayed ossification of carpal bones, Mandibular prognathia, Cleft up...	OMIM:239300
Czech Dysplasia	Short metatarsal, Flat capital femoral epiphysis, Narrow iliac wing, Thoracic kyphosis, Short met...	OMIM:609162
Esophageal Atresia	Abnormal vertebral morphology, Gastroesophageal reflux, Scoliosis, Esophagitis, Choanal atresia, ...	ORPHA:1199
Sneddon Syndrome	Memory impairment, Chorea, Tremor, Hemiparesis, Dementia, Mental deterioration	ORPHA:820
Parkinsonism-Dystonia 1, Infantile-Onset	Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor...	OMIM:613135
Eisenmenger Syndrome	Clubbing, Left-to-right shunt, Hypoxemia, Heart murmur, Right-to-left shunt, Elevated jugular ven...	ORPHA:97214
Osteopathia Striata-Cranial Sclerosis Syndrome	Brachycephaly, Abnormal metaphysis morphology, Spina bifida occulta, Asymmetry of the thorax, Lar...	ORPHA:2780
Fanconi Anemia, Complementation Group U	Hypoplasia of the radius, Absent scaphoid, Aplasia of the 1st metacarpal, Microcephaly, Growth de...	OMIM:617247
Pontocerebellar Hypoplasia, Type 2E	Short nose, Wide nose, Scoliosis, Osteoporosis, Short stature, Failure to thrive, Micrognathia, F...	OMIM:615851
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed puberty, Short nose, Osteolytic defects of the distal phalanges of the hand, Narrow mouth...	ORPHA:90154
Chromosome 14Q11-Q22 Deletion Syndrome	Short nose, Hip subluxation, Plagiocephaly, Gastroesophageal reflux, High palate, Narrow mouth, P...	OMIM:613457
Oculopharyngodistal Myopathy 3	Tremor, Ataxia, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:619473
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:610297
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Fanconi Anemia, Complementation Group N	Aplastic anemia, Hypoplasia of the radius, Postnatal growth retardation, Acute myeloid leukemia, ...	OMIM:610832
Distal Deletion 9P	Short nose, High, narrow palate, Hypospadias, Abnormality of the dentition, Cleft palate, Brachyd...	ORPHA:1642
Developmental And Epileptic Encephalopathy 89	Macrocephaly, Narrow chest, Anteverted nares, Scoliosis, Cleft palate, Limb undergrowth, Neonatal...	OMIM:619124
Axial Mesodermal Dysplasia Spectrum	Gastroesophageal reflux, Abnormal form of the vertebral bodies, Gingival overgrowth, Scoliosis, V...	ORPHA:1834
Surfactant Metabolism Dysfunction, Pulmonary, 1	Clubbing, Pulmonary arterial hypertension, Failure to thrive, Neonatal death, Cyanosis	OMIM:265120
Aicardi Syndrome	Delayed puberty, Microcephaly, Butterfly vertebrae, Short philtrum, Scoliosis, Cleft palate, Bloc...	ORPHA:50
Toriello-Carey Syndrome	Postnatal growth retardation, Abnormal palate morphology, Short nose, Narrow chest, Wide anterior...	ORPHA:3338
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Absent thumb, Forearm undergrowth	OMIM:602200
Glucose/Galactose Malabsorption	Abdominal distention, Chronic diarrhea, Failure to thrive, Malabsorption, Hyperactive bowel sounds	OMIM:606824
Congenital Tufting Enteropathy	Cholestatic liver disease, Abdominal distention, Orofacial cleft, Steatorrhea, Chronic diarrhea, ...	ORPHA:92050
Bardet-Biedl Syndrome	Retrognathia, Hypoplasia of penis, Hypoplasia of the ovary, Dental crowding, Abnormality of the e...	ORPHA:110
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	U-Shaped upper lip vermilion, Thick lower lip vermilion, Clinodactyly of the 5th finger, Anemia, ...	ORPHA:847
Bloom Syndrome	Microcephaly, Facial telangiectasia in butterfly midface distribution, Syndactyly, Elevated hemog...	OMIM:210900
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly	OMIM:309530
Kenny-Caffey Syndrome, Type 1	Long clavicles, Thin clavicles, Slender long bone, Thin ribs, Short palm, Short foot, Small hand	OMIM:244460
Mandibuloacral Dysplasia Progeroid Syndrome	Sandal gap, Narrow nasal ridge, Pectus excavatum, Elevated hemoglobin A1c, Long philtrum, Deep pa...	OMIM:619127
Gomez-Lopez-Hernandez Syndrome	Thin vermilion border, Short nose, Wide anterior fontanel, Anteverted nares, High palate, Short s...	OMIM:601853
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Short nose, Short philtrum, Single transverse palmar crease, Anteverted nares, High palate, Broad...	OMIM:614105
Chromosome 3Q13.31 Deletion Syndrome	Brachycephaly, Plagiocephaly, Dolichocephaly, Proximal placement of thumb	OMIM:615433
X-Linked Intellectual Disability, Porteous Type	Short philtrum, Mandibular prognathia, Decreased body weight, Hypoplasia of the maxilla, Short st...	ORPHA:93945
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Secondary microcephaly, Clinodactyly of the 5th toe, Retrognathia, Long nose, Clinodactyly of the...	OMIM:620113
Cholesteryl Ester Storage Disease	Steatorrhea, Acute hepatic failure, Leukopenia, Splenomegaly, Hepatic steatosis, Increased hepati...	OMIM:278000
Lysosomal Acid Lipase Deficiency	Decreased liver function, Steatorrhea, Cachexia, Fatal liver failure in infancy, Nausea and vomit...	ORPHA:275761
Primary Effusion Lymphoma	Abnormal peritoneum morphology, Abdominal distention, Abdominal pain	ORPHA:48686
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi...	ORPHA:90794
Floating-Harbor Syndrome	Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Micro...	OMIM:136140
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Pulmonary Capillary Hemangiomatosis	Elevated pulmonary artery pressure, Hemothorax, Mediastinal lymphadenopathy, Lymphadenopathy, Clu...	ORPHA:199241
Peroxisome Biogenesis Disorder 5B	Oculomotor apraxia, Tremor, Elevated circulating phytanic acid concentration, Unsteady gait, Atax...	OMIM:614867
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short nose, Anteverted nares, Protruding tongue, Sinusitis, Failure to thrive, Micrognathia, Shor...	OMIM:242860
Mandibuloacral Dysplasia With Type A Lipodystrophy	Dental crowding, Narrow nasal ridge, Short distal phalanx of finger, Coxa valga, Elbow flexion co...	OMIM:248370
Congenital Syphilis	Periostitis, Tibial bowing, Prolonged neonatal jaundice, Intrauterine growth retardation, Myocard...	ORPHA:499009
Intellectual Developmental Disorder, Autosomal Dominant 23	Brachycephaly, Broad distal phalanx of finger, Sandal gap, Lower limb asymmetry, Postaxial polyda...	OMIM:615761
Microform Holoprosencephaly	Orofacial cleft, Short nose, Solitary median maxillary central incisor, Short philtrum, Hypoplasi...	ORPHA:280200
Tetrasomy 18P	Thin vermilion border, Short nose, Scoliosis, Narrow mouth, Large hands, Long philtrum	ORPHA:3307
Developmental Delay With Or Without Dysmorphic Facies And Autism	Wide mouth, Small scrotum, Narrow nose, 2-3 toe cutaneous syndactyly, Short philtrum, Anteverted ...	OMIM:618454
Trichodermodysplasia-Dental Alterations Syndrome	Supernumerary tooth, Adenoma sebaceum, Abnormal hip bone morphology, Delayed eruption of teeth, T...	ORPHA:3353
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Hyperkinetic movements, Depression, Tremor, Gait disturbance, Microcephaly, Upper limb spasticity...	ORPHA:457240
Mayer-Rokitansky-Küster-Hauser Syndrome	Endometriosis, Aplasia of the uterus, Ectopic ovary, Dyspareunia, Hypoplasia of the vagina, Prima...	ORPHA:3109
Larsen Syndrome	Multiple carpal ossification centers, Spondylolysis, Knee dislocation, Short metacarpal, Dislocat...	OMIM:150250
Desmosterolosis	Ambiguous genitalia, male, Short nose, Rhizomelia, Gingival fibromatosis, Anteverted nares, Alveo...	OMIM:602398
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Pulmonary insufficiency, Congestive heart failure, Partial anosmia, Delayed puberty, ...	ORPHA:2326
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Microcephaly, Long phi...	OMIM:608670
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Pectus excavatum, Kyphosis, Microcephaly, Long philtrum, Intrauterine growth retardation, Oral-ph...	OMIM:300966
Helsmoortel-Van Der Aa Syndrome	Sandal gap, Prominent fingertip pads, Hyperlordosis, Everted lower lip vermilion, Microdontia, Sh...	OMIM:615873
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Secondary microcephaly, Hypertonia, Truncal titubation, Clinodactyly of the 5th finger, Agitation...	OMIM:618056
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cholestasis, Prolonged neonatal jaundice, Acute hepatic failure, Micronodular cirrhosis, Hepatic ...	OMIM:256810
Cat-Eye Syndrome	Abnormal rib morphology, Hip dysplasia	ORPHA:195
Coffin-Siris Syndrome	Wide nasal base, Wide mouth, Broad philtrum, Intrauterine growth retardation, Joint hypermobility...	ORPHA:1465
Cerebrooculonasal Syndrome	Narrow palate, Short nose, Postnatal growth retardation, Solitary median maxillary central inciso...	OMIM:605627
X-Linked Charcot-Marie-Tooth Disease Type 5	Tremor, Ataxia, Gait disturbance, Paraparesis	ORPHA:99014
Foxg1 Syndrome Due To 14Q12 Microdeletion	Short nose, Mandibular prognathia, Scoliosis, Everted lower lip vermilion, Kyphosis, Growth delay...	ORPHA:261144
Cap Polyposis	Abdominal distention, Colorectal polyposis, Diarrhea, Abdominal pain, Constipation, Hematochezia,...	ORPHA:160148
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Brachycephaly	OMIM:309545
Congenital Disorder Of Glycosylation, Type Il	Short nose, Kyphosis, Failure to thrive, Wide mouth, Long philtrum, Short neck, Depressed nasal b...	OMIM:608776
Sprengel Deformity	Sprengel anomaly, Rib segmentation abnormalities, Spina bifida occulta	OMIM:184400
6Q25 Microdeletion Syndrome	Rocker bottom foot, Plagiocephaly, Clinodactyly of the 5th finger, Camptodactyly of finger, Micro...	ORPHA:251056
Camptobrachydactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar...	ORPHA:1319
Kleefstra Syndrome	Hypoplasia of penis, Everted lower lip vermilion, Advanced eruption of teeth, Hypospadias, Anteve...	ORPHA:261494
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Abdominal distention, Jaundice, Hepatomegaly, Anteverted nares, Microvesicular hepatic steatosis,...	OMIM:618528
Mosaic Variegated Aneuploidy Syndrome 2	Short nose, Clinodactyly of the 5th finger, Rhizomelia, Single transverse palmar crease, Narrow m...	OMIM:614114
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Flat acetabular roof, Microcephaly, Metaphyseal irregularity, Long fibula, Irregular epiphyses, S...	OMIM:610442
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Abnormal nostril morphology, Gastroesophageal reflux, Truncal obesity, Single transverse palmar c...	ORPHA:466950
Toriello-Lacassie-Droste Syndrome	Short nose, Macrocephaly, Anteverted nares, Growth delay, Short palm, Failure to thrive, Feeding ...	ORPHA:3339
Orofaciodigital Syndrome X	Fibular aplasia, Retrognathia, Finger aplasia, Cleft palate, Preaxial hand polydactyly, Coalescen...	OMIM:165590
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac...	ORPHA:289548
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Steatorrhea, Cutaneous photosensitivity, Chronic diarrhea, Cachexia, Short palm, Malabsorption, B...	ORPHA:3217
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac...	ORPHA:168558
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Short nose, Advanced eruption of teeth, Widely spaced teeth, Everted lower lip vermilion, Failure...	OMIM:617865
16P13.11 Microdeletion Syndrome	Short nose, Anteverted nares, Exaggerated cupid's bow, Short stature, Camptodactyly of finger, Cl...	ORPHA:261236
9q subtelomeric deletion syndrome	Short nose, Anteverted nares	DECIPHER:52
15q26 overgrowth syndrome	Macrocephaly, Abnormal finger morphology, Mandibular prognathia, High palate, Scoliosis, Prominen...	DECIPHER:81
Holzgreve Syndrome	Turricephaly, Abnormal metacarpal morphology, Abnormally ossified vertebrae, Abnormal rib morphol...	ORPHA:2167
De Barsy Syndrome	Kyphoscoliosis, Progressive microcephaly, Pectus excavatum, Intrauterine growth retardation, Smal...	ORPHA:2962
Crouzon Syndrome	Narrow palate, Brachycephaly, Turricephaly, Choanal atresia, Multiple suture craniosynostosis, Hy...	ORPHA:207
Kagami-Ogata Syndrome	Kyphoscoliosis, Large for gestational age, Postnatal growth retardation, Bell-shaped thorax, Ante...	ORPHA:254519
Laryngeal Abductor Paralysis	Microcephaly, Cyanosis, Dysphagia, Talipes equinovarus	OMIM:150260
Angelman Syndrome	Secondary microcephaly, Brachycephaly, Widely spaced teeth, Mandibular prognathia, Scoliosis, Pro...	OMIM:105830
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Babinski sign, Hypertonia, Steppage gait, Tremor, Gait ataxia, Intention tremor, Ataxia, Myoclonu...	OMIM:616505
Castleman Disease	Intestinal obstruction, Abdominal distention, Jaundice, Mediastinal lymphadenopathy, Anemia, Lymp...	ORPHA:160
Perry Syndrome	Abnormality of extrapyramidal motor function, Depression, Tremor, Parkinsonism, Dementia	ORPHA:178509
Peho Syndrome	Retrognathia, Short nose, Tented upper lip vermilion, Open mouth, Edema of the dorsum of feet, Ta...	OMIM:260565
Stüve-Wiedemann Syndrome	Flexion contracture of finger, Intrauterine growth retardation, Scoliosis, Elbow flexion contract...	ORPHA:3206
Woolly Hair Nevus	Widely-spaced incisors, Brachydactyly	ORPHA:79414
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxilla, Micrognath...	OMIM:616367
Dihydropyrimidine Dehydrogenase Deficiency	Retrognathia, Macrocephaly, Deep palmar crease, Delayed eruption of teeth, Anteverted nares, Prom...	ORPHA:1675
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Long philtrum, High, narrow palate, Plagiocephaly, Mandibular prognathia, Scoliosis, Pectus excav...	ORPHA:1101
Combined Oxidative Phosphorylation Deficiency 53	Secondary microcephaly, Abdominal distention, Hepatomegaly, Hypochromic microcytic anemia, Short ...	OMIM:619423
Chand Syndrome	Agenesis of maxillary incisor, Short fifth metatarsal, Imperforate hymen, Abnormal oral frenulum ...	ORPHA:1401
Rhombencephalosynapsis	Polydactyly, Short nose, Finger syndactyly, Anteverted nares, Narrow mouth, Short phalanx of fing...	ORPHA:59315
Developmental And Epileptic Encephalopathy 100	Thoracolumbar kyphosis, Gastroesophageal reflux, Bilateral camptodactyly, Gingival overgrowth, Sc...	OMIM:619777
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Broad thumb, Micrognathia, Smooth philtrum, Brachydactyly	OMIM:614526
Loeys-Dietz Syndrome 3	Retrognathia, Abnormal sternum morphology, Pectus carinatum, Pulmonic stenosis, Arachnodactyly, B...	OMIM:613795
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Plagiocephaly, Sandal gap, Short foot, Clinodactyly, Pes planus, Tapered finger, Small hand	OMIM:618089
Fraser Syndrome 2	Abdominal distention, Wide nose, Short thorax, Narrow mouth, Hypoplasia of the thymus, Cutaneous ...	OMIM:617666
Musculocontractural Ehlers-Danlos Syndrome	Kyphoscoliosis, Long philtrum, Craniosynostosis, Scoliosis, Decreased palmar creases, Cleft palat...	ORPHA:2953
Primary Ciliary Dyskinesia	Male infertility, Clubbing, Nasal congestion, Chronic rhinitis, Nasal polyposis, Abnormal sperm m...	ORPHA:244
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Secondary microcephaly, Gait imbalance, Tongue thrusting, Broad-based gait, Hyperactivity, Tremor...	ORPHA:98794
Porphyria Due To Ala Dehydratase Deficiency	Agitation, Difficulty walking, Increased erythrocyte protoporphyrin concentration, Abnormal fear-...	ORPHA:100924
3Mc Syndrome 1	Postnatal growth retardation, Caudal appendage, Lambdoidal craniosynostosis, Clinodactyly of the ...	OMIM:257920
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Delayed puberty, Hepatocellular adenoma, Hypertension, Chronic neutropenia, Epistaxis, Hepatic st...	ORPHA:79259
Neu-Laxova Syndrome	Depressed nasal ridge, Micromelia, Micrognathia, Large hands, Hypogonadism	ORPHA:2671
Chromosome 17Q12 Deletion Syndrome	Retrognathia, Aplasia of the vagina, Upper limb undergrowth, Mandibular prognathia, Aplasia of th...	OMIM:614527
Intellectual Developmental Disorder, Autosomal Recessive 38	Plagiocephaly, Sandal gap	OMIM:615516
Osteopetrosis, Autosomal Recessive 7	Increased head circumference, Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Growth delay, ...	OMIM:612301
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Widely spaced teeth, Bilateral choanal atresia, Conical tooth, Hypodontia, 2-3 toe syndactyly, Se...	OMIM:106260
Plaa-Associated Neurodevelopmental Disorder	Rocker bottom foot, Short nose, Hyperextensibility of the finger joints, Single transverse palmar...	ORPHA:521426
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Congestive heart failure, Hepatomegaly, Abnormality of blood circulation, L...	ORPHA:860
Malignant Peritoneal Mesothelioma	Abdominal distention, Abdominal pain, Weight loss, Peritonitis, Ileus, Pedal edema	ORPHA:168811
Global Developmental Delay With Or Without Impaired Intellectual Development	Frontal bossing, Pectus excavatum, Plagiocephaly	OMIM:618330
Folinic Acid-Responsive Seizures	Abdominal distention	ORPHA:79097
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Retrognathia, Short nose, Anteverted nares, High palate, Growth delay, Recurrent upper respirator...	OMIM:614069
Genitourinary And/Or Brain Malformation Syndrome	Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, Cryptorchidism, ...	OMIM:618820
Hereditary Late-Onset Parkinson Disease	Bradykinesia, Agitation, Akinesia, Resting tremor, Depression, Low frustration tolerance, Parkins...	ORPHA:411602
Steinert Myotonic Dystrophy	Handgrip myotonia, Abnormality of masticatory muscle, Intestinal pseudo-obstruction, Oral-pharyng...	ORPHA:273
Van Esch-O'Driscoll Syndrome	Retrognathia, Short nose, Sacral dimple, Clinodactyly of the 5th finger, Spina bifida occulta, Sc...	OMIM:301030
Lethal Congenital Contracture Syndrome Type 1	Micrognathia, Abnormal hip bone morphology, Abnormal rib morphology, Slender long bone	ORPHA:1486
Biliary, Renal, Neurologic, And Skeletal Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Everted lower lip vermilion, Left-to-right shunt,...	OMIM:619534
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Cyanosis, Methemoglobinemia	OMIM:613977
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Tapered finger	ORPHA:352530
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Macrocephaly at birth, Flexion contracture of toe, Prominent occiput, Wide mouth, Dysphagia, Thin...	ORPHA:280633
Acrocephalopolydactylous Dysplasia	Short nose, Postaxial hand polydactyly, Micromelia	OMIM:200995
Peters Plus Syndrome	Disproportionate short-limb short stature, Wide mouth, Long philtrum, Intrauterine growth retarda...	ORPHA:709
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Abnormal fibula morphology, Retrognathia, Short nose, Sandal gap, Hypoplasia of penis, Abnormal d...	ORPHA:1812
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly	ORPHA:459074
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge	OMIM:612563
Malan Overgrowth Syndrome	Plagiocephaly, Slender long bone, Pectus excavatum, Frontal bossing, Scaphocephaly	ORPHA:420179
Peripheral Primitive Neuroectodermal Tumor	Anorexia, Abdominal distention, Jaundice, Neoplasm of the pancreas, Pancreatitis, Anemia, Episodi...	ORPHA:370348
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Fasciculations, Tremor, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:313200
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Vulto-Van Silfhout-De Vries Syndrome	Brachycephaly, Frontal bossing, 2-3 toe cutaneous syndactyly, Prominent fingertip pads	OMIM:615828
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
Chromosome 3Q29 Duplication Syndrome	Short nose, Multiple palmar creases, Obesity, Pes planus, Bulbous nose, Wide nasal bridge	OMIM:611936
Wiedemann-Steiner Syndrome	Pectus excavatum, Microcephaly, Dysphagia, Intrauterine growth retardation, Long philtrum, Clinod...	ORPHA:319182
Autoimmune Pulmonary Alveolar Proteinosis	Hypoxemia, Clubbing, Weight loss, Cyanosis	ORPHA:747
Leukodystrophy, Hypomyelinating, 11	Spasticity, Tremor, Ataxia, Myoclonus	OMIM:616494
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Flat occiput	OMIM:618736
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, T lymphocytopenia, Bone marrow hypocellularity, Leu...	ORPHA:443811
X-Linked Intellectual Disability, Cantagrel Type	Shawl scrotum, Short nose, Tented upper lip vermilion, Short philtrum	ORPHA:85277
Cdags Syndrome	Brachycephaly, Lambdoidal craniosynostosis, Parietal foramina, Short clavicles, Short ribs, Coron...	OMIM:603116
Ctcf-Related Neurodevelopmental Disorder	Sandal gap, Joint contracture of the 5th finger, Prominent fingertip pads, Microdontia, Long phil...	ORPHA:363611
Microcephaly-Microcornea Syndrome, Seemanova Type	Brachycephaly	ORPHA:2528
Epilepsy, Familial Adult Myoclonic, 2	Dementia, Tremor, Blepharospasm, Cognitive impairment, Ataxia, Myoclonus	OMIM:607876
Humeroradial Synostosis	Brachycephaly, Humeroradial synostosis	OMIM:236400
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Hypertension, Sinusitis, Cutis marmorata, Dysphagia, Nausea and vomiting,...	ORPHA:183
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad 2nd toe, Everted lower lip vermilion, Pectus excavatum, Wide mouth, Clinodactyly, Long foot...	OMIM:280000
Houge-Janssens Syndrome 2	Plagiocephaly, Pectus excavatum, Postaxial polydactyly, Deviation of the 5th finger, Broad hallux...	OMIM:616362
Donnai-Barrow Syndrome	Short nose, Wide anterior fontanel, Bicornuate uterus, Abnormality of the uterus, Depressed nasal...	ORPHA:2143
Hereditary Cryohydrocytosis With Reduced Stomatin	Postnatal growth retardation, Jaundice, Macrocephaly, Spontaneous hemolytic crises, Short thorax,...	ORPHA:168577
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology, Microretrognathia	ORPHA:276422
Mandibulofacial Dysostosis, Guion-Almeida Type	Short nose, Proximal placement of thumb, Anteverted nares, Choanal atresia, Slender finger, Short...	OMIM:610536
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Short nose, Growth delay, Shortening of all distal phalanges of the fingers, Cleft palate, Broad ...	OMIM:614749
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abdominal distention, Hepatomegaly, Mediastinal lymphadenopathy, Gastroesophageal reflux, Chronic...	OMIM:620233
Maternal Phenylketonuria	Deviated nasal septum, Anteverted nares, High palate, Intrauterine growth retardation, Microcepha...	ORPHA:2209
Potocki-Shaffer Syndrome	Brachycephaly, Parietal foramina, Micrognathia	ORPHA:52022
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Postnatal growth retardation, Widely spaced teeth, Microdontia, Hypoplasia of teeth, Cleft palate...	ORPHA:2728
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Rigidity, Ataxia, Dysphagia, Motor tics, Babinski sign, Akinesia, Depression, Trem...	OMIM:234200
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Brachycephaly	OMIM:300699
Meester-Loeys Syndrome	Broad distal phalanx of finger, Abnormal sternum morphology, Gingival overgrowth, Relative macroc...	OMIM:300989
Hypoplasminogenemia	Abnormal fallopian tube morphology, Periodontitis, Gingival overgrowth, Abnormality of the ovary,...	ORPHA:722
Intellectual Developmental Disorder, X-Linked 12	Hyperkinetic movements, Depression, Spasticity, Tremor, Gait disturbance, Microcephaly	OMIM:300957
Lymphedema-Hypoparathyroidism Syndrome	Increased carrying angle, Short stature, Pulmonary lymphangiectasia, Brachydactyly, Wide nasal br...	OMIM:247410
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short stature, Pes cavus, Short nose, Small for gestational age	ORPHA:289266
Poikiloderma With Neutropenia	Retrognathia, Long philtrum, Palmoplantar keratoderma, Short nose, Underdeveloped nasal alae, Joi...	OMIM:604173
Spastic Paraplegia 9B, Autosomal Recessive	Babinski sign, Tetraplegia, Tremor, Spasticity, Gait disturbance, Spastic paraplegia, Microcephal...	OMIM:616586
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Obesity, Gastroesophageal reflux, Single transverse palmar crease, Constipation, Short palm, Down...	ORPHA:466943
Distal Deletion 15Q	Microcephaly, Short distal phalanx of finger, Intrauterine growth retardation, Hip dislocation, S...	ORPHA:1596
Citrullinemia Type Ii	Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Elevated plasma citr...	ORPHA:247585
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Frontal bossing	OMIM:619264
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Retrognathia, Solitary median maxillary central incisor, Dental crowding, Contracture of the prox...	OMIM:301044
Alternating Hemiplegia Of Childhood	Anorexia, Abdominal distention, Oral-pharyngeal dysphagia, Skewfoot, Diarrhea, Exaggerated cupid'...	ORPHA:2131
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Postnatal growth retardation, Retrognathia, Anteverted nares, Single transverse palmar crease, Ex...	ORPHA:254528
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Choanal sten...	OMIM:241310
Combined Oxidative Phosphorylation Deficiency 32	Inability to walk, Spasticity, Tremor, Microcephaly, Dystonia, Dysphagia, Choreoathetosis	OMIM:617664
17Q24.2 Microdeletion Syndrome	Abnormality of the wrist, Prolonged QT interval, Cubitus valgus, Short philtrum, Tooth malpositio...	ORPHA:529962
Encephalopathy Due To Sulfite Oxidase Deficiency	Long philtrum, Short nose, Thick vermilion border	ORPHA:833
Monosomy 9P	Bilateral single transverse palmar creases, Proximal placement of thumb, Long philtrum, Hypospadi...	ORPHA:261112
Caffey Disease	Subperiosteal bone formation, Tibial bowing, Calvarial hyperostosis, Cortical irregularity, Perio...	OMIM:114000
Aspartylglucosaminuria	Beaking of vertebral bodies, Short nose, Abnormal vertebral morphology, Abnormal cortical bone mo...	ORPHA:93
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Preaxial polydactyly, Short ribs, Micromelia, Postaxial polydactyly, Aplastic clavicle, Depressed...	OMIM:616546
Cowden Syndrome 5	Scoliosis, High palate, Furrowed tongue, Narrow mouth, Kyphosis, Hypoplasia of the maxilla, Pectu...	OMIM:615108
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Retrognathia, Anemia, Short philtrum, Short long bone, Schistocytosis, Downturned corners of mout...	OMIM:301110
Acquired Methemoglobinemia	Tachycardia, Abdominal pain, Vomiting, Hypoxemia, Arrhythmia, Syncope, Palpitations, Cyanosis, Me...	ORPHA:464453
Cystathioninuria	Tremor, Talipes equinovarus, Cystathioninemia	ORPHA:212
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Genu valgum, Cleft soft palate, Hypoplasia of the ovary, Decreased testicular size, Short stature...	OMIM:619321
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Congestive heart failure, Hepatomegaly, Third heart sound, El...	ORPHA:1329
Wrinkly Skin Syndrome	Kyphoscoliosis, Deep plantar creases, Progressive microcephaly, Pectus excavatum, Slender long bo...	ORPHA:2834
Igg4-Related Ophthalmic Disease	Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve	ORPHA:449563
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short nose, Scoliosis, Short stature, Shortening of all distal phalanges of the fingers, Cleft pa...	OMIM:614207
Congenital Disorder Of Glycosylation, Type Iie	Retrognathia, Short nose, Wide nose, Narrow mouth, Protruding tongue, Short stature, Short neck, ...	OMIM:608779
Jaberi-Elahi Syndrome	Short nose, Inability to walk, Appendicular spasticity, Broad-based gait, Tremor, Gait ataxia, Mi...	OMIM:617988
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Postnatal growth retardation, Short nose, Scoliosis, High palate, Decreased body weight, Short st...	OMIM:300749
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Short nose, Single transverse palmar crease, High palate, Kyphosis, Postaxial...	OMIM:617527
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Postnatal growth retardation, Aortic regurgitation, Premature skin wrinkling, Microce...	OMIM:616603
Lacrimoauriculodentodigital Syndrome	Corneal neovascularization, Anosmia, Microdontia, Bifid uvula, Absent thumb, Syndactyly, Dysphagi...	ORPHA:2363
Slc39A8-Cdg	Osteopenia, Disproportionate short-limb short stature, Elbow flexion contracture, Short stature, ...	ORPHA:468699
Adult-Onset Dystonia-Parkinsonism	Bradykinesia, Frontotemporal dementia, Depression, Spasticity, Parkinsonism with favorable respon...	ORPHA:199351
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Plagiocephaly, Abnormal fibula morphology, Abnormal femur morphology, Lower limb asymmetry, Micro...	ORPHA:2063
Acrofrontofacionasal Dysostosis 2	Brachycephaly, Wide anterior fontanel, Broad thumb, Hand polydactyly, Broad hallux, Syndactyly	OMIM:239710
Dermotrichic Syndrome	Short nose, Abnormal vertebral morphology, Depressed nasal bridge, Proportionate short stature	ORPHA:99688
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Short nose, Hypospadias, Cleft soft palate, Anteverted nares, Male pseudohermaphroditism, Short s...	ORPHA:2282
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Short nose, Severe postnatal growth retardation, Anteverted nares, Short stature, Failure to thri...	OMIM:613038
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Short nose, Bulbous nose, Wide nasal bridge, Mild short stature, Thin upper lip vermilion	OMIM:620292
Vater/Vacterl Association	Postnatal growth retardation, Hypoplasia of the radius, Preaxial polydactyly, Abnormal vertebral ...	OMIM:192350
Spinocerebellar Ataxia 8	Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Dysphagia, Abnormal pyramidal ...	OMIM:608768
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tip-toe gait, Babinski sign, Tremor, Gait disturbance, Spastic paraplegia, Metaphyseal chondrodys...	ORPHA:83629
Monosomy 13Q14	Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Trigonocephal...	ORPHA:1587
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, Diarrhea, ...	OMIM:102700
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Brachycephaly, Preaxial polydactyly, Bilateral talipes equinovarus, Postaxial polydactyly, Microg...	OMIM:618142
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Retrognathia, Broad distal phalanx of finger, Disproportionate short-limb short stature, Pectus e...	OMIM:619194
Weiss-Kruszka Syndrome	Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb, Single transverse palmar...	OMIM:618619
Crouzon Syndrome With Acanthosis Nigricans	Brachycephaly, Craniosynostosis	OMIM:612247
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Femoral bowing, Microcephaly, Dysphagia, Median pseudocleft lip, Intrauterine growt...	OMIM:616462
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Primary ameno...	OMIM:146255
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Delayed puberty, Macrocephaly, Anteverted nares, Scoliosis, Everted lower lip vermilion, Short st...	ORPHA:293987
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Supernumerary nipple, Short lingual frenulum, High palate, Bifid uterus, Wide mouth, Syndactyly, ...	ORPHA:1521
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Delayed puberty, Steatorrhea, Proximal placement of thumb, Progressive microcephaly, Ulnar deviat...	OMIM:616263
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Short stature, Malar flattening, Hypoplasia of the zygomatic bone, Depressed nasal br...	ORPHA:2835
Ulnar Agenesis And Endocardial Fibroelastosis	Aplasia of the ulna, Neonatal death, Finger aplasia	OMIM:276822
Congenital Bile Acid Synthesis Defect Type 4	Memory impairment, Depression, Tremor, Elevated circulating creatine kinase concentration, Ataxia...	ORPHA:79095
Peroxisomal Acyl-Coa Oxidase Deficiency	Brachycephaly, Frontal bossing	OMIM:264470
Glutathionuria	Action tremor, Dysdiadochokinesis, Tremor	OMIM:231950
Liver Disease, Severe Congenital	Macrocephaly at birth, Lymphocytosis, Narrow nasal ridge, Biliary hyperplasia, Leukopenia, Spleno...	OMIM:619991
Monosomy 9Q22.3	Polydactyly, Orofacial cleft, Long philtrum, Large for gestational age, Short nose, Palmar pits, ...	ORPHA:77301
3Mc Syndrome	Postnatal growth retardation, Orofacial cleft, Caudal appendage, Spina bifida occulta, Scoliosis,...	ORPHA:293843
Larsen-Like Syndrome, Lethal Type	Abnormal cartilage matrix	OMIM:245650
Phaver Syndrome	Triphalangeal thumb, Abnormal rib morphology, Broad thumb, Camptodactyly of finger, Short thumb, ...	ORPHA:2876
Cataract-Intellectual Disability-Hypogonadism Syndrome	Brachycephaly, Abnormal distal phalanx morphology of finger, Micrognathia, Ulnar deviation of finger	ORPHA:1387
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age...	OMIM:313500
2Q23.1 Microdeletion Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Sandal gap, Short palm, Hip dysplasia	ORPHA:228402
Pediatric Systemic Lupus Erythematosus	Abdominal distention, Lymphadenopathy, Diarrhea, Oral ulcer, Abdominal pain, Vomiting, Leukopenia...	ORPHA:93552
Adult-Onset Autosomal Dominant Leukodystrophy	Spastic gait, Gait ataxia, Cognitive impairment, Action tremor, Head titubation, Ataxia, Dysphagi...	ORPHA:99027
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Brachycephaly, Plagiocephaly, Frontal bossing, Clinodactyly, Talipes equinovarus	OMIM:616789
Dahlberg-Borer-Newcomer Syndrome	Short distal phalanx of finger, Wide nasal bridge, Brachydactyly, Short stature	ORPHA:1563
Cowden Syndrome 6	Scoliosis, High palate, Furrowed tongue, Narrow mouth, Kyphosis, Hypoplasia of the maxilla, Pectu...	OMIM:615109
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Severe postnatal growth retardation, Aplasia of the uterus, Uterus didelphys,...	ORPHA:2237
Chylomicron Retention Disease	Abdominal distention, Steatorrhea, Diarrhea, Acanthocytosis, Vomiting, Failure to thrive, Growth ...	ORPHA:71
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Postnatal growth retardation, Retrognathia, Juvenile myelomonocytic leukemia, Cubitus valgus, Ant...	OMIM:613563
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Sandal gap, Enlarged metaphyses, Dislocated radial head, Pectus carinatum, Knee dislocation, Cran...	OMIM:245600
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Long nose, Joint hypermobility, Short 5th finger, Intrauterine growth retardation, Short finger, ...	OMIM:619522
Oculocerebrocutaneous Syndrome	Talipes, Finger syndactyly, Missing ribs, Congenital hip dislocation, Abnormal rib morphology, Ap...	ORPHA:1647
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Microdontia, Micrognathia	OMIM:610706
Pulmonary Alveolar Proteinosis, Acquired	Hypoxemia, Clubbing, Cyanosis	OMIM:610910
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	2-4 toe cutaneous syndactyly, Retrognathia, Kyphosis, Premature thelarche, Abnormal toe morpholog...	ORPHA:268261
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing	OMIM:156232
Hereditary Spherocytosis	Abdominal distention, Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crise...	ORPHA:822
Oculocerebral Hypopigmentation Syndrome, Cross Type	Abnormal thumb morphology, Abnormal palate morphology, Short nose, Anteverted nares, Limitation o...	ORPHA:2719
Cebalid Syndrome	Anteverted nares, Short nose, Depressed nasal bridge, Depressed nasal ridge	OMIM:618774
Myopathy, Mitochondrial, And Ataxia	Limb ataxia, Difficulty walking, Inability to walk, Depression, Truncal ataxia, Dysdiadochokinesi...	OMIM:617675
Microgastria-Limb Reduction Defect Syndrome	Abnormal finger morphology, Oligodactyly, Amelia, Aplastic clavicle, Abnormal metacarpal morpholo...	ORPHA:2538
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Postnatal growth retardation, Thin vermilion border, 2-3 toe cutaneous syndactyly, Prolonged QT i...	OMIM:620029
Congenital Enterocyte Heparan Sulfate Deficiency	Diarrhea, Abdominal distention, Hematochezia, Weight loss	ORPHA:103910
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Failure to...	ORPHA:444013
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Clubbing of fingers, Fasciculations, Tremor, Polyminimyoclonus, Vocal cord paresis, Dysphagia, Im...	OMIM:619574
You-Hoover-Fong Syndrome	Kyphoscoliosis, Pectus excavatum, Microcephaly, Cleft palate, Brachydactyly, Accessory oral frenu...	OMIM:616954
Trisomy 18	Bilateral single transverse palmar creases, Abnormal hip bone morphology, Cachexia, Abnormality o...	ORPHA:3380
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Microcephaly, Dysphagia, Gastrointestinal dysmotility, Cyanosis	ORPHA:391428
Oculopharyngodistal Myopathy 4	Postural tremor, Tremor, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:619790
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Epiphyseal stippling, Joint hemorrhage, Epistaxis, Short distal phalanx of finger	OMIM:277450
Genitopatellar Syndrome	Hypoplastic ischia, Microcephaly, Dysphagia, Patellar dislocation, Scoliosis, Short phalanx of fi...	OMIM:606170
Microcephaly 26, Primary, Autosomal Dominant	Short nose, Gingival overgrowth, Scoliosis, Protruding tongue, Short stature, Failure to thrive, ...	OMIM:619179
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypertonia, Limb hypertonia, Tremor, Athetosis, Dystonia, Ataxia, Spastic tetraplegia, Severe tem...	OMIM:617710
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Abnormal sternum morphology, Cranial asymmetry, Pectus carinatum	ORPHA:137634
Fanconi-Bickel Syndrome	Rickets, Abdominal distention, Postnatal growth retardation, Intrahepatic cholestasis, Hepatomega...	OMIM:227810
Aymé-Gripp Syndrome	Rocker bottom foot, Short nose, Postnatal growth retardation, Clinodactyly of the 5th finger, Oli...	ORPHA:1272
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Premature graying of hair, Postnatal growth retardation, Genu valgum, Retinal telangi...	OMIM:612199
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Abnormal palate morphology, Abnormality of canine, Widely spaced teeth, Clinodactyly of the 5th f...	ORPHA:477993
Trichothiodystrophy 2, Photosensitive	Short stature, Agenesis of maxillary lateral incisor	OMIM:616390
Vacterl With Hydrocephalus	Hypoplasia of the radius, Retrognathia, Abnormal form of the vertebral bodies, Hemivertebrae, Mic...	ORPHA:3412
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Adams-Oliver Syndrome 5	Pulmonary arterial hypertension, Pulmonic stenosis, Portal vein thrombosis, Splenomegaly, Syndact...	OMIM:616028
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Short columella, Short nose, Sacral dimple, Short philtrum, Mandibular prognathia, Microretrognat...	OMIM:613603
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Short nose, Clinodactyly, Syndactyly, Mandibular prognathia	OMIM:618087
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hypoplasia of the maxilla, Enterocolitis, Micrognathia, Failure to thrive, Bone marrow hypocellul...	OMIM:301108
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Brachycephaly, Plagiocephaly, Pectus excavatum	OMIM:618603
Autosomal Recessive Spondylocostal Dysostosis	Spina bifida occulta, Prominent occiput, Finger syndactyly, Short thorax, Abnormal rib morphology...	ORPHA:2311
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Goiter, Female infertility	OMIM:617577
Leprechaunism	Postnatal growth retardation, Abdominal distention, Long foot, Hepatomegaly, Wide nose, Decreased...	ORPHA:508
Pallister-Hall Syndrome	Mesoaxial polydactyly, Oligodactyly, Broad thumb, Trigonocephaly, Bifid uvula, Intrauterine growt...	ORPHA:672
Fanconi Anemia, Complementation Group A	Male infertility, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Microc...	OMIM:227650
Liver Failure, Infantile, Transient	Abdominal distention, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular he...	OMIM:613070
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Abdominal distention, Scoliosis, Short ribs, Hemivertebrae, Thin ribs, Missing ribs, Dolichocepha...	OMIM:271520
Fanconi Anemia, Complementation Group C	Anemia, Pancytopenia, Reticulocytopenia, Intrauterine growth retardation, Anterior wedging of T12...	OMIM:227645
Chromosome 1P36 Deletion Syndrome, Distal	Microcephaly, Bifid uvula, Dysphagia, Long philtrum, Short 5th finger, Scoliosis, Camptodactyly, ...	OMIM:607872
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Primary Peritoneal Carcinoma	Abdominal distention, Abdominal pain, Constipation, Peritonitis, Nausea and vomiting	ORPHA:168829
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal thumb morphology, Triphalangeal thumb, Proximal placement of thumb, Abnormal rib morphol...	ORPHA:1120
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Biliary atresia, Short long bone, Polysplenia, Bilateral talipes equinovarus, Pulmo...	OMIM:306955
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Long philtrum, Short nose, Wide nose, Cachexia, Scoliosis, Anteverted nares, Broad...	ORPHA:109
Schinzel-Giedion Syndrome	Kyphoscoliosis, Stiff elbow, Retrognathia, Broad alveolar ridges, Tibial bowing, Wide mouth, Shor...	ORPHA:798
19P13.13 Microdeletion Syndrome	Deep plantar creases, Short nose, Sandal gap, Anteverted nares, High palate, Narrow mouth, Long f...	ORPHA:357001
X-Linked Acrogigantism	Delayed puberty, Abdominal distention, Long foot, Large hands, Hypogonadism, Diastema, Increased ...	ORPHA:300373
Ritscher-Schinzel Syndrome 1	Brachycephaly, Prominent occiput, Missing ribs, Micrognathia, Syndactyly	OMIM:220210
Parkinson-Dementia Syndrome	Tremor, Rigidity, Parkinsonism, Dementia, Abnormal pyramidal sign	OMIM:260540
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Gait ataxia, Dysmetria	ORPHA:529665
Ogden Syndrome	Everted upper lip vermilion, Sandal gap, Tube feeding, Bifid nasal tip, Pectus excavatum, Prematu...	OMIM:300855
Cowden Syndrome 1	Scoliosis, High palate, Furrowed tongue, Narrow mouth, Kyphosis, Hypoplasia of the maxilla, Lymph...	OMIM:158350
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Tremor, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dystonia, Ataxia, Dysphagi...	OMIM:614381
Richieri-Costa/Guion-Almeida Syndrome	Brachycephaly, Spina bifida occulta, Pectus excavatum, Abnormal digit morphology, Palmoplantar cu...	OMIM:268850
Specc1L-Related Hypertelorism Syndrome	Brachycephaly, Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Clinodactyly o...	ORPHA:1519
Camptobrachydactyly	Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly	OMIM:114150
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Broad alveolar ridges, Abnormal finger morpho...	ORPHA:79500
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Brachycephaly, Plagiocephaly, Abnormal clavicle morphology, Tarsal synostosis, Short thorax, Pari...	ORPHA:85199
Thyroid Hemiagenesis	Abdominal distention, Jaundice, Constipation, Growth delay, Macroglossia	ORPHA:95719
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Long philtrum, Thin vermilion border, Deep plantar creases, Large for gestational age, Abnormal i...	OMIM:614080
Surfactant Metabolism Dysfunction, Pulmonary, 2	Clubbing, Pulmonary arterial hypertension, Failure to thrive, Hypoxemia, Cyanosis	OMIM:610913
Aicardi-Goutieres Syndrome 1	Purpura, Hepatomegaly, Petechiae, Vasculitis, Progressive microcephaly, Cardiomyopathy, Microceph...	OMIM:225750
Deeah Syndrome	Narrow palate, Retrognathia, Short nose, Short philtrum, Scoliosis, Prominent nasal tip, High pal...	OMIM:619004
Fanconi Anemia, Complementation Group E	Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Microcephaly, Short stat...	OMIM:600901
Dyrk1A-Related Intellectual Disability Syndrome	Pectus excavatum, Structural foot deformity, Kyphosis, Aortic valve stenosis, Arachnodactyly, Mic...	ORPHA:464306
Classical Ehlers-Danlos Syndrome	Dislocated radial head, Patellar dislocation, Hip dislocation, Scoliosis, Nausea, Chronic constip...	ORPHA:287
Non-Functioning Pituitary Adenoma	Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency...	ORPHA:91349
Intellectual Developmental Disorder, Autosomal Dominant 26	Brachycephaly, Micrognathia, Clinodactyly of the 5th finger	OMIM:615834
Neu-Laxova Syndrome 1	Rocker bottom foot, Radial deviation of finger, Swollen lip, Intrauterine growth retardation, Pri...	OMIM:256520
Pulmonary Alveolar Microlithiasis	Decreased fertility, Hepatomegaly, Clubbing of fingers, Stippled calcification in carpal bones, H...	ORPHA:60025
Frontofacionasal Dysplasia	Short nose, Non-midline cleft of the upper lip, Dimple on nasal tip, Bifid nasal tip, Choanal atr...	ORPHA:1791
Maternal Uniparental Disomy Of Chromosome 2	Postnatal growth retardation, Premature ovarian insufficiency, Clinodactyly of the 5th finger, Hy...	ORPHA:96179
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Vomiting, Failure to thrive, Osmotic diarrhea, Weight loss, Malnu...	ORPHA:35710
Wieacker-Wolff Syndrome, Female-Restricted	Brachycephaly, Rocker bottom foot, Narrow chest, Radial deviation of the hand, Hip contracture, A...	OMIM:301041
Isolated Klippel-Feil Syndrome	Sprengel anomaly, Abnormal shoulder morphology, Abnormal rib morphology	ORPHA:2345
Caudal Regression Syndrome	Aplasia/Hypoplasia of the sacrum, Orofacial cleft, Abnormal iliac wing morphology, Scoliosis, Hyp...	ORPHA:3027
Charge Syndrome	Delayed puberty, Anosmia, Microcephaly, Dysphagia, Bifid femur, Intrauterine growth retardation, ...	ORPHA:138
Surfactant Metabolism Dysfunction, Pulmonary, 3	Clubbing, Failure to thrive, Hypoxemia, Neonatal death, Cyanosis	OMIM:610921
Hyperimmunoglobulinemia D With Periodic Fever	Intestinal obstruction, Gastrointestinal hemorrhage, Purpura, Hepatomegaly, Recurrent aphthous st...	ORPHA:343
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Micrognathia, Short nose	ORPHA:1129
Parkinson Disease 23, Autosomal Recessive Early-Onset	Akinesia, Resting tremor, Spasticity, Limb dystonia, Rigidity, Parkinsonism, Dementia, Abnormal p...	OMIM:616840
Fanconi Anemia, Complementation Group L	Aplasia of the uterus, Growth delay, Micrognathia, Cleft palate, Absent thumb, Absent radius, Mic...	OMIM:614083
Breath-Holding Spells	Cyanosis, Iron deficiency anemia	OMIM:607578
Jacobsen Syndrome	Abnormal form of the vertebral bodies, Long philtrum, Intrauterine growth retardation, Hip disloc...	ORPHA:2308
Migraine, Familial Hemiplegic, 2	Apraxia, Confusion, Tremor, Episodic ataxia, Gait ataxia, Hemiparesis, Hemiplegia, Dysmetria	OMIM:602481
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Microcephaly, Oligodontia, Selective tooth agenesis, Split hand, Choanal...	OMIM:129900
Dent Disease	Rickets, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement of the ankles, A...	ORPHA:1652
Choreoacanthocytosis	Socially inappropriate behavior, Hair-pulling, Hyperactivity, Chorea, Head-banging, Lingual dysto...	ORPHA:2388
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniofacial hyperostosis, Pectus c...	ORPHA:3068
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Brachycephaly, Broad thumb, Down-sloping shoulders, Flat occiput, Overlapping toe, Tapered finger...	OMIM:617452
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Brachycephaly, Plagiocephaly, Frontal bossing, Hip contracture, Tapered finger	OMIM:616801
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Limb ataxia, Oculomotor apraxia, Chorea, Tremor, Elevated circulating creatine kinase concentrati...	OMIM:606002
Autosomal Dominant Kenny-Caffey Syndrome	Postnatal growth retardation, Abnormal circulating follicle-stimulating hormone concentration, Ca...	ORPHA:93325
Nephrotic Syndrome, Type 1	Growth delay, Abdominal distention, Small for gestational age, Gastroesophageal reflux	OMIM:256300
Buerger Disease	Vasculitis, Intermittent claudication, Raynaud phenomenon, Acrocyanosis, Arterial occlusion, Live...	ORPHA:36258
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Hypoplasia of the radius, Clinodactyly of the 5th finger, Aortic regurgitation, Short stature, To...	ORPHA:140952
Fg Syndrome 3	Pyloric stenosis, Joint contracture, Feeding difficulties, Chronic constipation	OMIM:300406
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Methylmalonic acidemia, Hyperhomocystinemia, Elevated circulating propionylca...	OMIM:614857
Dystonia 13, Torsion, Autosomal Dominant	Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim...	OMIM:607671
Menke-Hennekam Syndrome 1	Everted upper lip vermilion, Sandal gap, Long philtrum, Joint hypermobility, Overlapping toe, Sho...	OMIM:618332
High Altitude Pulmonary Edema	Anorexia, Nausea and vomiting, Leukocytosis, Hypoxemia, Tachycardia, Cyanosis	ORPHA:330012
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia, Single transverse palmar crease	OMIM:218550
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atre...	OMIM:137920
Townes-Brocks Syndrome 2	Bifid uterus, Spina bifida occulta, Hypospadias, Rectovaginal fistula	OMIM:617466
Anterior Cutaneous Nerve Entrapment Syndrome	Anorexia, Abdominal distention, Abdominal pain, Decreased body weight, Leukocytosis, Nausea, Recu...	ORPHA:51890
Prolactinoma	Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,...	ORPHA:2965
Renpenning Syndrome	Abnormal thumb morphology, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib morphol...	ORPHA:3242
Cryptogenic Organizing Pneumonia	Anorexia, Leukocytosis, Hypoxemia, Neutrophilia, Weight loss, Cyanosis	ORPHA:1302
Simpson-Golabi-Behmel Syndrome	Hypoplasia of penis, Broad thumb, Wide mouth, Hypospadias, Anteverted nares, Scoliosis, Postaxial...	ORPHA:373
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Short thorax	OMIM:601809
Interstitial Pneumonitis, Desquamative, Familial	Failure to thrive, Cyanosis, Recurrent upper respiratory tract infections	OMIM:263000
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Retrognathia, Micrognathia, Thick nasal alae, Short nose	ORPHA:163961
Abnormal Hair, Joint Laxity, And Developmental Delay	Plagiocephaly, Clinodactyly of the 5th toe, Short fifth metatarsal, 2-3 toe syndactyly, Clinodact...	OMIM:261990
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Short nose, Ankle flexion contracture, Micrognathia, Natal tooth, Depressed nasal bridge	OMIM:617802
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, Short nose, Anteverted nares, High palate, Micrognathia, Tented upper lip vermilion,...	ORPHA:314655
Prolidase Deficiency	Short nose, High palate, Failure to thrive, Micrognathia, Depressed nasal bridge, Concave nasal r...	OMIM:170100
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pectoral muscle hypoplasia/aplasia, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Ca...	ORPHA:306542
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Retrognathia, Brachyturricephaly, Biliary hyperplasia, Microcephaly, Arachnodactyly, Contracture ...	ORPHA:83617
Cornelia De Lange Syndrome 6	Short nose, Clinodactyly of the 5th finger, Anteverted nares, Scoliosis, Intrauterine growth reta...	OMIM:620568
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis, Projectile vomiting	OMIM:179010
Hypomandibular Faciocranial Dysostosis	Short nose, Anteverted nares, Maxillozygomatic hypoplasia, Narrow mouth, Cleft palate, Bifid uvul...	ORPHA:1790
Crouzon Syndrome	Brachycephaly, Deviated nasal septum, Lambdoidal craniosynostosis, Dental crowding, Mandibular pr...	OMIM:123500
Orthostatic Hypotension 1	Retrograde ejaculation, Orthostatic hypotension, Atrial fibrillation, Nasal congestion, High pala...	OMIM:223360
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Cl...	OMIM:600376
Structural Heart Defects And Renal Anomalies Syndrome	Systolic heart murmur, Overlapping toe, Cyanosis, Microcephaly	OMIM:617478
Infant Acute Respiratory Distress Syndrome	Bradycardia, Cardiac arrest, Hypotension, Hypoxemia, Tachycardia, Cyanosis, Abnormal thorax morph...	ORPHA:70587
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Short nose, Anteverted nares, Growth delay, Hypoplasia of teeth, Decreased fertility	OMIM:234050
Polyendocrine-Polyneuropathy Syndrome	Postnatal growth retardation, Anterior pituitary hypoplasia, Decreased testicular size, Central h...	OMIM:616113
Chondrodysplasia Punctata, Autosomal Dominant	Hypoplasia of the nasal bone, Hip contracture, Knee flexion contracture, Epiphyseal stippling	OMIM:118650
Kleefstra Syndrome Due To 9Q34 Microdeletion	Short nose, Hypoplasia of penis, Anteverted nares, Everted lower lip vermilion, Abnormal testis m...	ORPHA:96147
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Brachycephaly, Camptodactyly, Trigonocephaly, Micrognathia, Pes planus, Sagittal craniosynostosis...	ORPHA:459061
Fontaine Progeroid Syndrome	Retrognathia, Everted lower lip vermilion, Microdontia, Syndactyly, Long philtrum, Small scrotum,...	OMIM:612289
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Short nose, Wide nasal bridge	OMIM:618437
Craniofacial-Deafness-Hand Syndrome	Short nose, Narrow naris, Ulnar deviation of the hand, Depressed nasal bridge	OMIM:122880
Cerebrofaciothoracic Dysplasia	Short nose, Wide nose, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Short stature, Cl...	ORPHA:1394
Multiple Synostoses Syndrome 4	Tarsal synostosis, Broad foot, Brachydactyly, Overlapping toe, Pes planus	OMIM:617898
Aromatase Deficiency	Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism	OMIM:613546
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Brachycephaly, Hyperextensibility of the finger joints, Broad thumb, Arachnodactyly, Toe syndacty...	ORPHA:505237
Thyroid Hypoplasia	Abdominal distention, Jaundice, Constipation, Growth delay, Short stature, Macroglossia	ORPHA:95720
Stormorken Syndrome	Anemia, Short philtrum, Howell-Jolly bodies, Asplenia, Short stature, Hypoplastic spleen, Epistax...	OMIM:185070
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Spontan...	OMIM:187300
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Abdominal distention, Macrocephaly, Choanal atresia, Cleft palate, Secretory diarrhea	OMIM:270420
Donnai-Barrow Syndrome	Short nose, Wide anterior fontanel, Bicornuate uterus, Short sternum, Broad nasal tip, Malar flat...	OMIM:222448
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly	OMIM:618859
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Eyelid myoclonus, Oculomotor apraxia, Incoordination, Tremor, Ataxia, Abnormal pyramidal sign	OMIM:618060
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Corneal neovascularization, Reduced bone mineral density, Impaired oral bolus formation, Splenome...	ORPHA:404454
Gapo Syndrome	Long philtrum, High, narrow palate, Thick lower lip vermilion, Short nose, Wide anterior fontanel...	OMIM:230740
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplastic sacrum, Absence of Stensen duct, Selective tooth agenesis, Split hand, Ectrodactyly, ...	OMIM:604292
Cerebellar Ataxia-Hypogonadism Syndrome	Brachycephaly, Clinodactyly of the 5th finger	ORPHA:1173
Chromosome 5P13 Duplication Syndrome	Brachycephaly, Long foot, Turricephaly, Frontal bossing, Long fingers, Large hands, Craniosynostosis	OMIM:613174
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Secondary microcephaly, Anteverted nares, Gingival overgrowth, Poor suc...	OMIM:620423
Supranuclear Palsy, Progressive, 1	Bradykinesia, Irritability, Akinesia, Gait imbalance, Axial dystonia, Memory impairment, Retrocol...	OMIM:601104
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Clinodactyly of the 5th finger, Abnormal rib morphology, Missing ribs	ORPHA:2759
Cowden Syndrome	Macrocephaly, Bone cyst, Scoliosis, High palate, Furrowed tongue, Kyphosis, Pectus excavatum, Sho...	ORPHA:201
Isolated Arrhinia	Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Absent nasal septal cartilage...	ORPHA:1134
Menkes Disease	Brachycephaly, Metaphyseal spurs, Metaphyseal widening	OMIM:309400
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Clinodactyly of the 5th finger, Aplasia of the vagina, Aplasia of the uterus, Postaxial polydacty...	ORPHA:457284
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hyperkinetic movements, Difficulty walking, Inability to walk, Chorea, Truncal ataxia, Tremor, At...	OMIM:615356
Tibial Hemimelia	Absent tibia	OMIM:275220
Arterial Tortuosity Syndrome	Rocker bottom foot, Short nose, Abnormal zygomatic bone morphology, Clinodactyly of the 5th finge...	ORPHA:3342
Aicardi Syndrome	Postnatal growth retardation, Butterfly vertebrae, Proximal placement of thumb, Anteverted nares,...	OMIM:304050
Vaginal Atresia	Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ...	ORPHA:65681
Neuroblastoma	Abdominal distention, Anemia, Lymphadenopathy, Chronic diarrhea, Hypertension, Thrombocytopenia, ...	ORPHA:635
Cutis Laxa, Autosomal Recessive, Type Iiia	Brachycephaly, Pectus excavatum, Congenital hip dislocation, Frontal bossing, Adducted thumb, Tal...	OMIM:219150
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Plagiocephaly, Tapered distal phalanges of finger, Frontal bossing, Arachnodactyly, Hip contractu...	ORPHA:371364
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Microcephaly, Hand clenching, Cyanosis, Protruding tongue	OMIM:619580
Mckusick-Kaufman Syndrome	Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly,...	ORPHA:2473
Fucosidosis	Brachycephaly, Anterior beaking of lumbar vertebrae, Abnormality of the gallbladder, Hepatomegaly...	ORPHA:349
Gallbladder Neuroendocrine Tumor	Anorexia, Abdominal distention, Biliary tract obstruction, Intermittent jaundice, Episodic abdomi...	ORPHA:100086
Microphthalmia, Syndromic 6	Retrognathia, Female hypogonadism, Microcephaly, Bifid uvula, Polydactyly, Abnormality of the han...	OMIM:607932
Primary Biliary Cholangitis	Gastrointestinal inflammation, Abdominal distention, Steatorrhea, Jaundice, Cirrhosis, Orthostati...	ORPHA:186
Atrial Septal Defect, Ostium Secundum Type	Left-to-right shunt, Supraventricular arrhythmia, Transient ischemic attack, Pulmonary arterial h...	ORPHA:99103
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Intention tremor, Action tremor, Gait ataxia, Unsteady gait, Dysphagia, Myoclonus, Postural tremo...	OMIM:254900
Zellweger Syndrome	Epiphyseal stippling, Wide anterior fontanel, High palate, Pyloric stenosis, Micrognathia, Malabs...	ORPHA:912
Coffin-Siris Syndrome 1	Retrognathia, Clitoral hypertrophy, Sandal gap, Dislocated radial head, Aplasia of the uterus, Pr...	OMIM:135900
Cardiogenic Shock	Congestive heart failure, Abnormal left ventricular function, Hepatomegaly, Low-output congestive...	ORPHA:97292
Down Syndrome	Brachycephaly, Sandal gap, Hypoplastic iliac wing, Single transverse palmar crease, Short middle ...	OMIM:190685
Multiple Pterygium-Malignant Hyperthermia Syndrome	Plagiocephaly, Finger syndactyly, Pectus excavatum, Abnormal rib morphology, Hemiatrophy, Metatar...	ORPHA:2215
Waardenburg Syndrome Type 1	Short nose, Scoliosis, Mandibular prognathia, Cleft upper lip, Cleft palate, Tented upper lip ver...	ORPHA:894
Gaucher Disease, Perinatal Lethal	Retrognathia, Everted upper lip vermilion, Short nose, Anteverted nares, Narrow mouth, Everted lo...	OMIM:608013
Amyloidosis, Hereditary, Transthyretin-Related	Limb ataxia, Paraplegia, Truncal ataxia, Confusion, Tremor, Spasticity, Intention tremor, Hemipar...	OMIM:105210
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly	ORPHA:521390
Hyperlysinemia	Tip-toe gait, Neck hypertonia, Hyperactivity, Tremor, Spastic tetraparesis, Short attention span,...	ORPHA:2203
Sweeney-Cox Syndrome	Brachycephaly, Narrow chest, Short clavicles, Wide anterior fontanel, 2-5 toe syndactyly, Bilater...	OMIM:617746
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Upper l...	OMIM:616924
Mosaic Trisomy 8	Deep plantar creases, Clinodactyly of the 5th finger, Narrow chest, Abnormal rib morphology, Camp...	ORPHA:96061
Chilton-Okur-Chung Neurodevelopmental Syndrome	Wide mouth, Intrauterine growth retardation, Cone-shaped epiphysis, Agenesis of incisor, Short fi...	OMIM:619841
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Short nose, Bulbous nose, Choanal atresia, Depressed nasal bridge	ORPHA:284169
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Torsion dystonia, Tremor, Blepharospasm, Dysphagia	OMIM:224500
Wolf-Hirschhorn Syndrome	Aplasia of the uterus, Craniofacial asymmetry, Intrauterine growth retardation, Hip dislocation, ...	OMIM:194190
Odontoonychodermal Dysplasia	Smooth tongue, Conical incisor, Abnormality of primary teeth, Hypodontia, Agenesis of permanent t...	OMIM:257980
German Syndrome	Brachycephaly, Camptodactyly of finger, Micrognathia, Dolichocephaly	ORPHA:2077
Khan-Khan-Katsanis Syndrome	Short nose, Sacral dimple, Triangular mouth, Scoliosis, Postaxial polydactyly, Failure to thrive,...	OMIM:618460
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnormal rib morphology, Bro...	ORPHA:2519
Ablepharon Macrostomia Syndrome	Thin vermilion border, Excessive wrinkled skin, Anteverted nares, Underdeveloped nasal alae, Micr...	ORPHA:920
Glutaryl-Coa Dehydrogenase Deficiency	Chorea, Tremor, Athetosis, Poor motor coordination, Limb dystonia, Cognitive impairment, Rigidity...	ORPHA:25
Kleefstra Syndrome 2	Plagiocephaly	OMIM:617768
Niemann-Pick Disease Type C	Chorea, Limb dystonia, Cognitive impairment, Ataxia, Dysphagia, Myoclonus, Clumsiness, Aggressive...	ORPHA:646
Acute Intermittent Porphyria	Abdominal distention, Proximal muscle weakness in upper limbs, Diarrhea, Nausea and vomiting, Abd...	ORPHA:79276
Noonan Syndrome 13	Plagiocephaly, Enlarged thorax, Lower limb asymmetry, Bilateral talipes equinovarus, Metatarsus a...	OMIM:619087
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Hepatomegaly, Narrow chest, Short long bone, Cholestasis, Bilia...	OMIM:620454
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Short nose, Wide anterior fontanel, Scoliosis, High palate, Congenital hip dislocation, Contractu...	ORPHA:457279
Serotonin Syndrome	Irritability, Hypertonia, Agitation, Confusion, Tremor, Clonus, Rigidity, Delirium, Myoclonus, Re...	ORPHA:43116
Letterer-Siwe Disease	Abdominal distention, Jaundice, Anemia, Stomatitis, Hepatosplenomegaly, Thrombocytopenia, Neutrop...	OMIM:246400
Generalized Arterial Calcification Of Infancy	Hypertension, Pancreatic calcification, Stippled calcification of the shoulder, Abnormal calcific...	ORPHA:51608
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Cardiomyopathy, Hypotension, Microcephaly, Arrhythmia, Ventricular tachycardia, Cya...	ORPHA:159
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Plagiocephaly, Turricephaly, Clinodactyly of the 5th finger, Pectus excavatum, Bilateral talipes ...	OMIM:620224
Trichothiodystrophy 1, Photosensitive	Retrognathia, Short nose, Triangular mouth, Short stature, Flexion contracture, Hypogonadism, Sma...	OMIM:601675
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Plagiocephaly, Talipes equinovarus	OMIM:617481
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Brachycephaly	ORPHA:320385
Encephalopathy, Ethylmalonic	Petechiae, Chronic diarrhea, Failure to thrive, Feeding difficulties, Acrocyanosis	OMIM:602473
Cirrhosis, Familial	Abdominal distention, Cirrhosis, Jaundice, Fulminant hepatitis, Hypertension, Biliary cirrhosis, ...	OMIM:215600
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Abdominal distention, Steatorrhea, Iron deficiency anemia, Diarrhea, Abdominal pain, Ost...	ORPHA:309031
Chromosome 17P13.1 Deletion Syndrome	Brachycephaly, Plagiocephaly, Turricephaly, Proximal placement of thumb, Knee flexion contracture...	OMIM:613776
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Vomiting, Micr...	OMIM:252010
Periventricular Nodular Heterotopia	Joint hypermobility, Pyloric stenosis, Gastroesophageal reflux	ORPHA:98892
Mirizzi Syndrome	Anorexia, Abdominal distention, Jaundice, Pancreatitis, Cholelithiasis, Abdominal pain, Vomiting,...	ORPHA:521219
Craniofacial Dyssynostosis With Short Stature	Brachycephaly, Frontal bossing, Abnormal shape of the occiput, Brachyturricephaly	OMIM:218350
Spastic Paraplegia 9A, Autosomal Dominant	Pes cavus, Carpal bone hypoplasia, Gastroesophageal reflux, Abnormal pelvic girdle bone morpholog...	OMIM:601162
Prune1-Related Neurological Syndrome	Plagiocephaly, Micrognathia, Bilateral talipes equinovarus	ORPHA:544469
Trisomy 1Q	Long foot, Short thorax, Abnormal rib morphology, Frontal bossing, Camptodactyly of finger, Arach...	ORPHA:261344
Chromosome 6Pter-P24 Deletion Syndrome	Brachycephaly, Rocker bottom foot, Clinodactyly of the 5th finger, Broad toe, Short 2nd toe, Pect...	OMIM:612582
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Retrognathia, Bradycardia, High palate, Bowing of the long bones, Pulmon...	OMIM:614437
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Microcephaly, Growth delay, Polycythemia, Cyanosis, Methemoglobinemia	OMIM:250800
Hypermobile Ehlers-Danlos Syndrome	Dental crowding, Microdontia, Arachnodactyly, Epistaxis, Nausea and vomiting, Osteolysis, Hip dis...	ORPHA:285
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Plagiocephaly	OMIM:607313
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Brachycephaly	OMIM:615031
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Brachycephaly	OMIM:309541
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Lumbar Syndrome	Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl...	ORPHA:83628
Degcags Syndrome	Retrognathia, Wide mouth, Syndactyly, Long philtrum, Craniosynostosis, Intrauterine growth retard...	OMIM:619488
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, High ...	ORPHA:284339
Band Heterotopia	Plagiocephaly	OMIM:600348
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Irritability, Hypertonia, Oculogyric crisis, Tremor, Hyperphenylalaninemia, Cerebral palsy, Hypom...	ORPHA:1578
Pearson Syndrome	Steatorrhea, Chronic diarrhea, Cardiomyopathy, Reticulocytosis, Microcephaly, Bone marrow hypocel...	ORPHA:699
48,Xxxy Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Talipes equinovarus, Radioulnar synostosis, Abnorm...	ORPHA:96263
Klippel-Feil Syndrome 1, Autosomal Dominant	Sprengel anomaly, Abnormal rib morphology, Abnormal limb bone morphology	OMIM:118100
Distal Deletion 19P	Short philtrum, Hypoplasia of the maxilla, Arachnodactyly, Cleft palate, Long toe	ORPHA:96129
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Postnatal growth retardation, Plagiocephaly, Scoliosis, Pulmonary arterial hypertension, Slender ...	OMIM:613355
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor, Aplasia of the eccrine sweat glands	OMIM:300291
White-Kernohan Syndrome	Retrognathia, Short nose, Rectovaginal fistula, Anteverted nares, Underdeveloped nasal alae, Obes...	OMIM:619426
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Oligodactyly, Ectrodactyly	ORPHA:3016
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Scoliosis, Epiphyseal dysplasia, Arachnodactyly, Long hallux, Broad hallux, Fifth fin...	OMIM:615923
Wilson Disease	Abdominal distention, Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Anemia, Hyposmia, Hepat...	OMIM:277900
Fanconi Anemia, Complementation Group D2	Annular pancreas, Anemia, Absent radius, Pancytopenia, Leukemia, Reticulocytopenia, Hypergonadotr...	OMIM:227646
Hereditary Fructose Intolerance	Abdominal distention, Jaundice, Hepatomegaly, Diarrhea, Abdominal pain, Chronic hepatic failure, ...	ORPHA:469
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Brachycephaly, Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis invol...	ORPHA:371428
Metachromatic Leukodystrophy	Tip-toe gait, Addictive behavior, Emotional lability, Incoordination, Decerebrate rigidity, Tremo...	ORPHA:512
Tricuspid Atresia	Cyanosis	ORPHA:1209
Axenfeld-Rieger Syndrome	Everted lower lip vermilion, Microdontia, Hypoplasia of the maxilla, Growth delay, Hypodontia, Wi...	ORPHA:782
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Abdominal distention, Congestive heart failure, Jaundice, Cirrhosis, Microvesicular hepatic steat...	OMIM:617156
Autosomal Dominant Spastic Paraplegia Type 9A	Spastic gait, Babinski sign, Spastic dysarthria, Memory impairment, Falls, Tremor, Lower limb hyp...	ORPHA:447753
Gaucher Disease, Type Ii	Hepatomegaly, Anemia, Gastroesophageal reflux, Failure to thrive, Thrombocytopenia, Feeding diffi...	OMIM:230900
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Cleft lip, Notched primary central incisor	OMIM:620519
Ethylmalonic Encephalopathy	Diarrhea, Failure to thrive, Petechiae, Acrocyanosis	ORPHA:51188
Histiocytoid Cardiomyopathy	Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Hepatomegaly, Atrial fi...	ORPHA:137675
Polyembryoma	Abnormal peritoneum morphology, Abdominal distention, Irregular menstruation, Abdominal pain	ORPHA:180229
Coenzyme Q10 Deficiency, Primary, 1	Right hemiplegia, Tremor, Elevated circulating creatine kinase concentration, Loss of ambulation,...	OMIM:607426
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Talipes valgus, Plagiocephaly, Clinodactyly of the 5th finger, Clubbing of fingers, Pectus carina...	OMIM:620083
Laryngotracheal Angioma	Vomiting, Cyanosis, Feeding difficulties	ORPHA:137935
49,Xxxxy Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Talipes equinovarus, Radioulnar synostosis, Abnorm...	ORPHA:96264
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Gastroesophageal reflux	ORPHA:1949
Phosphoribosylpyrophosphate Synthetase Superactivity	Short nose, Hypospadias, High palate, Short stature, Wide mouth, Gout, Convex nasal ridge, Crypto...	OMIM:300661
Dend Syndrome	Short nose, Anteverted nares, Downturned corners of mouth, Long philtrum, Clinodactyly of the 4th...	ORPHA:79134
Okamoto Syndrome	Polydactyly, Short nose, Talipes, Severe postnatal growth retardation, Anteverted nares, Scoliosi...	ORPHA:2729
Acrofrontofacionasal Dysostosis 1	Brachycephaly, Short metacarpal, Pectus excavatum, Broad thumb, Short distal phalanx of finger, A...	OMIM:201180
Pancreatoblastoma	Abdominal distention, Jaundice, Abnormal lymph node morphology, Diarrhea, Abdominal pain, Vomitin...	ORPHA:677
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Short nose, 2-3 toe syndactyly, Scoliosis, Prominent nasal tip, Bilateral talipes equinovarus, Eq...	ORPHA:522077
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Short nose, Everted upper lip vermilion, Conical tooth, Periorbital wrinkles, Underdeveloped nasa...	OMIM:305100
Ritscher-Schinzel Syndrome 4	Brachycephaly, Plagiocephaly, Limited knee extension, Ulnar deviation of the hand, Hip dysplasia,...	OMIM:619435
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Brachycephaly, Ulnar deviation of the hand or of fingers of the hand, Calcaneovalgus deformity, C...	ORPHA:562528
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Osteogenesis Imperfecta, Type Xi	Brachycephaly, Protrusio acetabuli, Coxa vara	OMIM:610968
Loeys-Dietz Syndrome	Orofacial cleft, High palate, Arachnodactyly, Micrognathia, Bifid uvula, Camptodactyly of finger,...	ORPHA:60030
Loeys-Dietz Syndrome 2	Retrognathia, Abnormal sternum morphology, Pectus carinatum, Pectus excavatum, Arachnodactyly, Bi...	OMIM:610168
Adenylosuccinase Deficiency	Short nose, Anteverted nares, Growth delay, Wide mouth, Smooth philtrum, Long philtrum, Thin uppe...	OMIM:103050
Opitz-Kaveggia Syndrome	Narrow palate, Anal stenosis, Wide anterior fontanel, Choanal atresia, Camptodactyly, Anal atresi...	OMIM:305450
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Brachycephaly, Broad distal phalanx of finger, 2-3 toe syndactyly, Lower limb asymmetry, Postaxia...	ORPHA:404440
Fg Syndrome Type 1	Gastroesophageal reflux, Limited elbow extension and supination, High palate, Choanal atresia, An...	ORPHA:93932
Multiple Endocrine Neoplasia Type 2	Kyphoscoliosis, Abdominal distention, Abnormal tongue morphology, Diarrhea, Hypertension associat...	ORPHA:653
19P13.12 Microdeletion Syndrome	Brachycephaly, Deep plantar creases, Clinodactyly of the 5th finger, Sandal gap, Finger syndactyl...	ORPHA:254346
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy, Hypertension, Hypoxemia, Cyanosis	ORPHA:79126
Brain Malformations With Or Without Urinary Tract Defects	Short nose, Anteverted nares, Narrow mouth, Failure to thrive, Thin upper lip vermilion	OMIM:613735
Hypoadrenocorticism, Familial	Vomiting, Cyanosis, Feeding difficulties in infancy	OMIM:240200
Developmental And Epileptic Encephalopathy 65	Plagiocephaly	OMIM:618008
Cleft Velum	Cleft soft palate, Oral-pharyngeal dysphagia, Poor suck, Nasal regurgitation, Hypoplasia of the m...	ORPHA:99772
Neurofaciodigitorenal Syndrome	Brachycephaly, Plagiocephaly, Triphalangeal thumb, Abnormal metacarpal morphology, Pectus excavat...	ORPHA:2673
Acquired Purpura Fulminans	Shock, Macular purpura, Internal hemorrhage, Thrombocytopenia, Intracranial hemorrhage, Acrocyano...	ORPHA:49566
Kbg Syndrome	Brachycephaly, Radial deviation of finger, Clinodactyly of the 5th finger, Thoracic kyphosis, Uln...	OMIM:148050
Hypohidrotic Ectodermal Dysplasia	Anteverted nares, Abnormality of the dentition, Tooth agenesis, Sinusitis, Hypoplasia of the maxi...	ORPHA:238468
Stevenson-Carey Syndrome	Brachycephaly, Camptodactyly, Hip dysplasia	OMIM:611961
Obesity-Hypoventilation Syndrome	Obesity, Cyanosis	OMIM:257500
Chronic Pneumonitis Of Infancy	Failure to thrive, Hypoxemia, Cyanosis, Mediastinal lymphadenopathy	ORPHA:91359
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Cyanosis, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotensio...	OMIM:261740
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Brachycephaly, Micrognathia	OMIM:620240
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Bifid scrotum, Kyphosis, Broad philtrum, Joint hypermobility, Intrauterine growt...	OMIM:619475
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Brachycephaly, Broad thumb, Frontal bossing, Camptodactyly of finger, Tapered finger, Abnormal th...	ORPHA:1236
Pontocerebellar Hypoplasia, Type 3	Brachycephaly	OMIM:608027
Interstitial Cystitis	Abnormal labia morphology, Dyspareunia, Abnormality of the menstrual cycle, Abnormal vagina morph...	ORPHA:37202
Galloway-Mowat Syndrome 4	Plagiocephaly, Tapered finger	OMIM:617730
Pyruvate Carboxylase Deficiency	Tip-toe gait, Hypertaurinemia, Elevated plasma citrulline, Anorexia, Abnormal temper tantrums, Hy...	ORPHA:3008
Glycogen Storage Disease Ib	Delayed puberty, Hepatomegaly, Pancreatitis, Oral ulcer, Hypertension, Hepatocellular carcinoma, ...	OMIM:232220
Chromosome 13Q33-Q34 Deletion Syndrome	Brachycephaly, Narrow chest, Camptodactyly, Trigonocephaly, Micrognathia, Distally placed thumb, ...	OMIM:619148
Congenital Disorder Of Glycosylation, Type Iit	Brachycephaly, Short foot, Sandal gap, Small hand	OMIM:618885
Combined Oxidative Phosphorylation Deficiency 15	Incoordination, Tremor, Cognitive impairment, Microcephaly, Ataxia, Unsteady gait, Progressive ne...	OMIM:614947
Hyperphosphatasia-Intellectual Disability Syndrome	Brachycephaly, Plagiocephaly, Abnormal parietal bone morphology, Pectus excavatum, Shortening of ...	ORPHA:247262
Ovarian Hyperstimulation Syndrome	Abdominal distention, Capillary leak, Abdominal pain, Hypovolemia, Nausea, Nausea and vomiting	ORPHA:64739
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Grange Syndrome	Decreased body weight, Renovascular hypertension, Syndactyly, Brachydactyly, Finger clinodactyly	OMIM:602531
Intellectual Developmental Disorder, Autosomal Dominant 74	Brachycephaly	OMIM:620688
Houge-Janssens Syndrome 1	Congenital muscular torticollis, Chronic diarrhea, Pyloric stenosis, Facial hypotonia	OMIM:616355
Cadds	Intrauterine growth retardation, Short nose, Micrognathia	ORPHA:369942
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Brachycephaly, Ulnar deviation of the 3rd finger, Abnormal foot morphology, Proximal placement of...	ORPHA:456312
Diarrhea 1, Secretory Chloride, Congenital	Growth delay, Abdominal distention, Failure to thrive, Secretory diarrhea	OMIM:214700
Paternal Uniparental Disomy Of Chromosome 6	Postnatal growth retardation, Retrognathia, Neonatal insulin-dependent diabetes mellitus, Gingiva...	ORPHA:96191
Chromosome 15Q11.2 Deletion Syndrome	Plagiocephaly, Short finger, Slender finger, Arachnodactyly, Micrognathia, Swan neck-like deformi...	OMIM:615656
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische...	ORPHA:99104
Intellectual Developmental Disorder, Autosomal Dominant 64	Plagiocephaly, Micrognathia, Prominent fingertip pads, Clinodactyly of the 5th finger	OMIM:619188
Mowat-Wilson Syndrome	Abdominal distention, Widely spaced teeth, Delayed eruption of teeth, Tooth malposition, Low hang...	OMIM:235730
Unilateral Polymicrogyria	Abnormal posturing, Poor fine motor coordination, Involuntary movements, Microcephaly, Hemiparesi...	ORPHA:268943
Aica-Ribosiduria	Brachycephaly	ORPHA:250977
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Kyphoscoliosis, Barrel-shaped chest, Vertebral compression fracture, Scoliosis, Tibia...	OMIM:259770
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Narrow nasal base, Wide nose, Cleft ala nasi, Mandibular prognathia, Hypoplasia of the maxilla, E...	ORPHA:3044
Adams-Oliver Syndrome 1	Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Aortic valve stenosis, Cleft up...	OMIM:100300
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Plagiocephaly, Broad thumb, Frontal bossing, Micrognathia, Toe syndactyly, Tapered finger	OMIM:619720
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Gastroesophageal reflux, Diarrhea, Scoliosis, Hypertension, Vomiting, Co...	OMIM:223900
Dihydropyrimidinase Deficiency	Plagiocephaly, Short phalanx of finger, Talipes equinovarus	OMIM:222748
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology	ORPHA:2978
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Systolic heart murmur, Hypoxemia, Intrauterine growth reta...	ORPHA:555874
Pallister-Killian Syndrome	Kyphoscoliosis, Aplasia of the uterus, Everted lower lip vermilion, Bifid uvula, Wide mouth, Smal...	OMIM:601803
Koolen-De Vries Syndrome	Narrow palate, High, narrow palate, Abnormal dental enamel morphology, Thick nasal alae, Pyloric ...	ORPHA:96169
Chiari Malformation Type Ii	Cyanosis, Dysphagia, Feeding difficulties	OMIM:207950
Oeis Complex	Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl...	OMIM:258040
Cerebrooculonasal Syndrome	Brachycephaly, Postaxial hand polydactyly	ORPHA:66625
Sandifer Syndrome	Abnormal posturing, Torticollis	ORPHA:71272
Axenfeld-Rieger Syndrome, Type 2	Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Microdontia, Hypoplasia of th...	OMIM:601499
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Cyanosis, Hepatic steatosis, Increased hepatic echogenicity, Hepatic failure	OMIM:261680
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Abnormality of primary teeth, Agenesis of permanent teeth,...	OMIM:150400
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Abnormal metacarpal morphology, Asymmetry of the thorax, Finger syndactyly, Aplasia/Hypoplasia of...	ORPHA:1112
Bresek Syndrome	Plagiocephaly, Postaxial hand polydactyly	ORPHA:85284
Epidermolysis Bullosa, Junctional 1B, Severe	Pyloric stenosis, Carious teeth, Enamel hypoplasia	OMIM:226700
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Knee flexion contracture, Elbow flexion contracture, Pyloric stenosis,...	OMIM:619461
Desanto-Shinawi Syndrome	Brachycephaly	OMIM:616708
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Brachycephaly, Plagiocephaly	OMIM:618862
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Dental crowding, Hyperlordosis, Internally rotated shoulders, Unicornuate uterus, Agenesis of per...	OMIM:619503
Prune Belly Syndrome	Abnormal rib morphology, Pectus excavatum, Talipes equinovarus, Congenital hip dislocation	ORPHA:2970
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Plagiocephaly, Genu valgum, Metatarsus adductus, Micrognathia, Thoracic scoliosis, Flat occiput, ...	ORPHA:300570
2P15P16.1 Microdeletion Syndrome	Brachycephaly, Sandal gap, Enlarged thorax, Pectus excavatum, Metatarsus adductus, Camptodactyly ...	ORPHA:261349
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Irritability, Emotional lability, Tremor, Ataxia, Decreased serum zinc	OMIM:201100
Holoprosencephaly 7	Short nose, Midline defect of the nose, Solitary median maxillary central incisor, Hypoplastic na...	OMIM:610828
Weill-Marchesani Syndrome 4	Short stature, Brachydactyly	OMIM:613195
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Abdominal distention, Hypoperistalsis	OMIM:619365
Truncus Arteriosus	Aortic regurgitation, Hypoplasia of the thymus, Pulmonic stenosis, Abnormal heart valve physiolog...	ORPHA:3384
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology, Weight loss, Acrocyanosis	ORPHA:3165
Ethylene Glycol Poisoning	Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypertension, Hypotension, ...	ORPHA:31826
Glycogen Storage Disease Ia	Delayed puberty, Intermittent diarrhea, Hepatomegaly, Pancreatitis, Hypertension, Hepatocellular ...	OMIM:232200
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Brachycephaly, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Short foot	OMIM:300260
Familial Dysautonomia	Orthostatic hypotension, Gastroesophageal reflux, Abnormal peritoneum morphology, Scoliosis, Hype...	ORPHA:1764
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Long philtrum, Short columella, Short nose, Scoliosis, High palate, Narrow mouth, Cryptorchidism,...	OMIM:601776
Trisomy 18P	High, narrow palate, Facial palsy, Pyloric stenosis, Micrognathia, Wide nasal bridge, Underdevelo...	ORPHA:1715
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology	ORPHA:2578
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Coronal craniosynostosis, Frontal bossing, Calvarial skull defect, Brachycephaly	ORPHA:228390
Developmental And Epileptic Encephalopathy 1	Plagiocephaly	OMIM:308350
Criss-Cross Heart	Tricuspid stenosis, Pulmonic stenosis, Mitral stenosis, Feeding difficulties, Cyanosis, Supravalv...	ORPHA:1461
Cardiac Valvular Dysplasia 2	Pulmonary insufficiency, Aortic regurgitation, Palpitations, Central cyanosis, Tricuspid regurgit...	OMIM:620067
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Achalasia, Acrocyanosis	ORPHA:2400
Currarino Syndrome	Abdominal distention, Bifid sacrum, Hemisacrum, Absence of the sacrum, Chronic constipation, Gast...	OMIM:176450
Metachromatic Leukodystrophy, Adult Form	Abdominal distention, Bowel incontinence, Orthostatic hypotension due to autonomic dysfunction, N...	ORPHA:309271
Osteogenesis Imperfecta, Type Xx	Brachycephaly, Plagiocephaly, Narrow chest, Asymmetry of the thorax	OMIM:618644
Loeys-Dietz Syndrome 5	Brachycephaly, Flexion contracture of toe, Pectus carinatum, Bilateral coxa valga, Scapular wingi...	OMIM:615582
Lowe Oculocerebrorenal Syndrome	Rickets, Wrist swelling, Joint contracture of the hand, Genu valgum, Platyspondyly, Postnatal gro...	OMIM:309000
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Micrognathia	OMIM:256600
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Brachycephaly	ORPHA:70472
Craniofaciofrontodigital Syndrome	Osteopenia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Osteoporosis, Pyloric stenosis,...	ORPHA:363705
Primary Hyperoxaluria	Heart block, Rootless teeth, Cardiomyopathy, Abnormality of the dentition, Intermittent claudicat...	ORPHA:416
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Diarrhea, B lymphocytopenia, Restrict...	OMIM:619313
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Plagiocephaly	OMIM:618731
Microvillus Inclusion Disease	Diarrhea, Abdominal distention, Hypovolemia	ORPHA:2290
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Brachycephaly, Hyperextensibility of the finger joints, Pectus carinatum, Pectus excavatum, Long ...	OMIM:309583
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Gastroesophageal reflux, Pyloric stenosis, Micrognathia, Cleft p...	ORPHA:261197
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Hypertonia, Spasticity, Tremor, Rigidity, Progressive neurologic deterioration, Dementia	OMIM:176500
Hurler Syndrome	Abnormal clavicle morphology, Abnormal diaphysis morphology, Abnormal rib morphology, Frontal bos...	ORPHA:93473
Trichohepatoneurodevelopmental Syndrome	Brachycephaly, Plagiocephaly, Fibular bowing, Clinodactyly of the 5th finger, Narrow chest, Bilat...	OMIM:618268
Ehlers-Danlos Syndrome, Vascular Type	Thin vermilion border, Osteolytic defects of the phalanges of the hand, Periodontitis, Cervical i...	OMIM:130050
Oculocerebrofacial Syndrome, Kaufman Type	Brachycephaly, Long foot, Arachnodactyly, Micrognathia, Flat occiput	ORPHA:2707
Skin Creases, Congenital Symmetric Circumferential, 1	Brachycephaly, Long fingers, Micrognathia, Pectus excavatum	OMIM:156610
Xq28 (MECP2) duplication	Brachycephaly	DECIPHER:45
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Pyloric stenosis, Arthrogryposis multiplex congenita, Camptodactyly	OMIM:614262
Metachromatic Leukodystrophy, Late Infantile Form	Abdominal distention, Feeding difficulties in infancy, Cholecystitis	ORPHA:309256
Beck-Fahrner Syndrome	Brachycephaly, Pes planus, Hip dysplasia	OMIM:618798
Alpha-Mannosidosis, Infantile Form	Brachycephaly, Cranial hyperostosis, Talipes valgus, Genu valgum, Pectus carinatum, Bilateral cox...	ORPHA:309282
Craniotubular Dysplasia, Ikegawa Type	Diaphyseal dysplasia, 3-4 finger syndactyly, Broad ischia, Broad femoral neck, Short palm, Dolich...	OMIM:619727
Thrombocytopenia, Paris-Trousseau Type	Pyloric stenosis, Micrognathia	OMIM:188025
Ataxia-Telangiectasia	Progressive cerebellar ataxia, Inability to walk, Dysdiadochokinesis, Tremor, Intention tremor, M...	OMIM:208900
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Abnormal cartilage matrix, Short metacarpal, Epiphyseal stippling	ORPHA:86822
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Abnormal rib morphology, Missing ribs, Micrognathia, Tet...	ORPHA:3301
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Brachycephaly, Plagiocephaly, Hip dysplasia, Short foot, Small hand	ORPHA:500055
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormal finger morphology, Cranial asymmetry, Abnormal toe morphology	OMIM:163200
Kasabach-Merritt Phenomenon	Abdominal distention, Purpura, Hepatic hemangioma, Anemia, Petechiae, Abdominal pain, Abnormal ly...	ORPHA:2330
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Long philtrum, Short nose, Small scrotum, Sandal gap, Mandibular prognathia, Prominent nasal tip,...	OMIM:620330
Septopreoptic Holoprosencephaly	Abnormal rib morphology	ORPHA:280195
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Plagiocephaly, Sprengel anomaly, Pectus excavatum, Spina bifida occulta	OMIM:619227
Colonic Atresia	Abdominal distention, Abnormal mesentery morphology, Abdominal situs inversus	ORPHA:1198
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly	OMIM:616083
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Brachycephaly, Pes cavus, Short foot, Lower limb asymmetry, Postaxial polydactyly, Hip dysplasia,...	OMIM:300968
Congenitally Corrected Transposition Of The Great Arteries	Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic...	ORPHA:216694
14Q22Q23 Microdeletion Syndrome	Brachycephaly, Short 4th metacarpal, Clinodactyly of the 5th finger, Finger syndactyly, Short foo...	ORPHA:264200
Kleefstra Syndrome Due To A Point Mutation	Brachycephaly, Plagiocephaly, Tapered finger	ORPHA:261652
Aortic Arch Interruption	Absent pulse, Congestive heart failure, Aortic regurgitation, Blood pressure substantially higher...	ORPHA:2299
9Q33.3Q34.11 Microdeletion Syndrome	Brachycephaly, Plagiocephaly, Patellar hypoplasia, Bilateral coxa valga, Patellar aplasia, Patell...	ORPHA:495818
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Pyloric stenosis, Feeding difficulties	OMIM:617219
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Pyloric stenosis, Carious teeth, Natal tooth, Feeding difficulties	OMIM:616395
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Plagiocephaly, Pectus carinatum, Fractures of the long bones, Pectus excavatum, Congenital hip di...	ORPHA:496641
Ornithine Transcarbamylase Deficiency	Pyloric stenosis, Hepatic failure	ORPHA:664
Multiple System Atrophy 1, Susceptibility To	Bradykinesia, Babinski sign, Tremor, Cognitive impairment, Rigidity, Ataxia, Parkinsonism	OMIM:146500
9P13 Microdeletion Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Abnormality of cartilage of external ear, Microret...	ORPHA:324313
Isolated Cleft Lip	Supernumerary maxillary incisor, Non-midline cleft of the upper lip, Velopharyngeal insufficiency...	ORPHA:199302
Metachromatic Leukodystrophy, Juvenile Form	Abdominal distention, Cholecystitis	ORPHA:309263
Hunter-Macdonald Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Pectus carinatum, 2-3 toe syndactyly, Camptodactyl...	OMIM:611962
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Split hand, Abnormal rib morphology, Micrognathia, Toe syndactyly	ORPHA:1300
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Brachycephaly	OMIM:300958
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Plagiocephaly, Spina bifida occulta, Prominent occiput, Camptodactyly, Clinodactyly	OMIM:617360
Hallermann-Streiff Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Short ribs, Rib exostoses, Frontal bossing, Microg...	ORPHA:2108
Thyroid Ectopia	Abdominal distention, Jaundice, Constipation, Short stature, Growth delay, Dysphagia, Macroglossia	ORPHA:95712
Aspergillosis	Abnormal long bone morphology, Abnormal rib morphology	ORPHA:1163
1P21.3 Microdeletion Syndrome	Short nose, Micrognathia, Obesity, Broad nasal tip, Wide mouth, Joint hypermobility	ORPHA:293948
Chime Syndrome	Brachycephaly, Aplasia/Hypoplasia of the phalanges of the toes, Short foot, Short palm, Aplasia/H...	ORPHA:3474
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nausea and vomiting, Enamel hypoplasia, Oral mucosal blisters, Abdominal distention	ORPHA:79403
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abdominal distention, Skin fragility with non-scarring blistering, Fragile skin, Vomiting, Oral m...	ORPHA:158684
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Gastroesophageal reflux, Poor suck, Vomiting, Microcephaly, Failure to thrive, Feeding difficulti...	OMIM:618426
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Bifid scrotum, Broad thumb, Aplasia/Hypoplasia of the 3rd toe, Hypos...	OMIM:107480
Williams-Beuren Region Duplication Syndrome	Brachycephaly, Micrognathia	OMIM:609757
Chopra-Amiel-Gordon Syndrome	Brachycephaly	OMIM:619504
Frontonasal Dysplasia 3	Brachycephaly	OMIM:613456
Carney Complex	Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria...	ORPHA:1359
Noonan Syndrome 3	Short nose, Anteverted nares, High palate, Short stature, Left unilambdoid synostosis, Hypoplasti...	OMIM:609942
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Retrognathia, Posterolateral diaphragmatic hernia, Rectal prolapse, Gastroesophageal ...	OMIM:613177
Lig4 Syndrome	Brachycephaly, Plantar warts, Clinodactyly of the 5th finger	OMIM:606593
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, Abnormality of the foot muscula...	ORPHA:169189
Vici Syndrome	Abnormal posturing, Dysphagia, Microcephaly, Elevated circulating creatine kinase concentration	OMIM:242840
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Hypertrophic cardiomyopathy	OMIM:610773
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Male sexual dysf...	ORPHA:322
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Abdominal distention, Bloody diarrhea, Peritoneal abscess, Hypoplasi...	ORPHA:436252
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abdominal distention, Abnormality of the gastrointestinal tract, Microcolon, Intestinal malrotati...	ORPHA:2241
Neuroleptic Malignant Syndrome	Hyperkalemia, Agitation, Oculogyric crisis, Hyperuricemia, Hypocalcemia, Chorea, Extrapyramidal m...	ORPHA:94093
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Brachycephaly, Finger syndactyly, Broad thumb, Flat occiput, Broad hallux phalanx, Preaxial hand ...	ORPHA:2211
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibr...	ORPHA:980
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Narrow nasal ridge, Elbow flexion contracture, Osteoporosis, Pyloric stenosis, Flexio...	OMIM:614438
Aicardi-Goutières Syndrome	Plagiocephaly, Chronic lymphatic leukemia, Scoliosis, Neonatal alloimmune thrombocytopenia, Hyper...	ORPHA:51
Aica-Ribosiduria Due To Atic Deficiency	Brachycephaly, Frontal bossing	OMIM:608688
Progressive Non-Infectious Anterior Vertebral Fusion	Brachycephaly, Proximal radio-ulnar synostosis, Micrognathia, Large hands	ORPHA:2062
Houge-Janssens Syndrome 3	Frontal bossing, Plagiocephaly	OMIM:618354
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Short nose, Deep palmar crease, Lumbar kyphosis, Thoracic kyphosis, Joint stiffness, Thick vermil...	ORPHA:505248
Postinfectious Vasculitis	Anorexia, Ischemic stroke, Gastrointestinal inflammation, Palpable purpura, Abdominal pain, Hyper...	ORPHA:48435
Methemoglobinemia And Ambiguous Genitalia	Cyanosis, Methemoglobinemia	OMIM:250790
Intellectual Developmental Disorder, Autosomal Dominant 48	Plagiocephaly	OMIM:617751
Laryngotracheoesophageal Cleft	Impaired oropharyngeal swallow response, Cyanosis	ORPHA:2004
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal rib morphology	ORPHA:2234
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Brachycephaly, Calcaneovalgus deformity, Long fingers, Tapered finger	ORPHA:521445
Parkinson Disease 21	Bradykinesia, Rigidity, Tremor, Parkinsonism	OMIM:616361
Frontometaphyseal Dysplasia 2	Fused cervical vertebrae, Gastroesophageal reflux, High palate, Camptodactyly, Pyloric stenosis, ...	OMIM:617137
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Brachycephaly, Frontal bossing, Plagiocephaly	OMIM:617296
Immunodeficiency, Common Variable, 10	Pyloric stenosis, Recurrent sinusitis, Frequent Giardia lamblia infestation, Recurrent viral uppe...	OMIM:615577
Koolen-De Vries Syndrome	Narrow palate, Pear-shaped nose, High palate, Pyloric stenosis, Cleft palate, Prominent nasal bri...	OMIM:610443
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Polysplenia, Pulmonary arterial hypertension, Hypoplastic spleen, Chron...	OMIM:620642
Dermatomyositis	Myocarditis, Palmar hyperkeratosis, Facial erythema, Erythema, V-sign, Cutaneous photosensitivity...	ORPHA:221
Congenital Tracheomalacia	Gastroesophageal reflux, Pulmonary arterial hypertension, Failure to thrive, Feeding difficulties...	ORPHA:95430
Lymphatic Malformation 7	Abdominal distention, Anemia	OMIM:617300
Myasthenia Gravis	Acrocyanosis, Pure red cell aplasia, Raynaud phenomenon, Abnormal thymus morphology, Dysphagia, H...	ORPHA:589
X-Linked Intellectual Disability, Wilson Type	Brachycephaly	ORPHA:85290
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Elevated pulmonary artery pressure, Abdominal distention, Bidirectional shunt, Peritonitis	OMIM:619351
Hypothyroidism, Congenital, Nongoitrous, 2	Abdominal distention, Bradycardia, Constipation, Growth delay, Macroglossia, Feeding difficulties...	OMIM:218700
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Brachycephaly, Clinodactyly of the 5th finger, Frontal bossing, Short thumb, Tapered finger	OMIM:616728
Vascular Ehlers-Danlos Syndrome	Thin vermilion border, High, narrow palate, Hypospadias, Uterine rupture, Periodontitis, Gingival...	ORPHA:286
Noonan Syndrome With Multiple Lentigines	Brachycephaly, Spina bifida occulta, Pectus carinatum, Scapular winging, Pectus excavatum, Spreng...	ORPHA:500
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology	ORPHA:93941
Cardiac-Urogenital Syndrome	Penoscrotal hypospadias, 2-3 toe syndactyly, Aplasia of the uterus, Bifid scrotum, Unilateral cry...	OMIM:618280
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Plagiocephaly, Deep plantar creases, Wide anterior fontanel, Pectus excavatum, Micrognathia	OMIM:618548
Hereditary Acrokeratotic Poikiloderma	Turricephaly, Abnormal hip bone morphology, Abnormal metacarpal morphology, Finger syndactyly, Ab...	ORPHA:2907
Intellectual Developmental Disorder, Autosomal Dominant 29	Brachycephaly, Pes cavus, Sandal gap, Frontal bossing, Cutaneous finger syndactyly, Broad hallux,...	OMIM:616078
Congenital Disorder Of Glycosylation, Type Iq	Brachycephaly	OMIM:612379
Frontonasal Dysplasia 2	Brachycephaly, Parietal foramina, Anterior plagiocephaly, Craniosynostosis, Calvarial skull defect	OMIM:613451
Den Hoed-De Boer-Voisin Syndrome	Brachycephaly, Sandal gap, 2-3 toe syndactyly, Short foot, Small hand	OMIM:619229
Vacterl/Vater Association	Preaxial hand polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the radius, Abnormal rib morp...	ORPHA:887
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Abdominal distention, Neonatal death, Microcolon	OMIM:619362
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Choanal atresia, Ankyloglossia, Bowel incontinence, Pyloric stenosis, Campto...	ORPHA:261330
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Plagiocephaly, Short foot	OMIM:615471
Norrie Disease	Delayed puberty, Thin vermilion border, Erectile dysfunction, Cryptorchidism, Diabetes mellitus, ...	ORPHA:649
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Congestive heart failure, Left ventricular outflow tract obstruction, Pulmonary arterial hyperten...	ORPHA:99050
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Narrow chest, Bowing of the long bones, Abnormal rib morphology, ...	ORPHA:667
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anorexia, Abdominal distention, Gastrointestinal inflammation, Generalized abnormality of skin, A...	ORPHA:95455
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Brachycephaly, Slender long bone, Upper limb undergrowth, Pectus excavatum, Micrognathia, Cranios...	ORPHA:369837
Double Outlet Left Ventricle	Orofacial cleft, Abnormal right ventricular function, Systolic heart murmur, Failure to thrive, C...	ORPHA:3427
Isolated Epispadias	Abnormal pelvic girdle bone morphology	ORPHA:93928
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Pyloric stenosis	OMIM:133705
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Flat occiput, Brachycephaly	OMIM:618797
6Q Terminal Deletion Syndrome	Plagiocephaly, Aplasia/Hypoplasia of the ribs, Dolichocephaly, Micrognathia, Hallux valgus, Talip...	ORPHA:75857
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Hypoplastic coccygeal vertebrae, Di...	OMIM:619512
Kindler Epidermolysis Bullosa	Short 4th metacarpal, Turricephaly, Finger syndactyly, Abnormal rib morphology, Camptodactyly of ...	ORPHA:2908
Frontofacionasal Dysplasia	Orofacial cleft, Midline defect of the nose, Short nose, Hypoplasia of the frontal bone, Cleft up...	OMIM:229400
Distal Deletion 12Q	Brachycephaly, Long foot, Clinodactyly of the 5th finger, Wide anterior fontanel, 2-3 toe syndact...	ORPHA:96149
Craniofacial Microsomia 1	Cervical ribs, Genu valgum, Transverse facial cleft, Maxillozygomatic hypoplasia, Scoliosis, Vert...	OMIM:164210
Joubert Syndrome 1	Plagiocephaly, Postaxial hand polydactyly, Clinodactyly, Postaxial foot polydactyly	OMIM:213300
Molybdenum Cofactor Deficiency, Complementation Group B	Long philtrum, Short nose, Thick vermilion border, Growth delay	OMIM:252160
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Plagiocephaly, Narrow chest, Narrow iliac wing, Pectus excavatum, Calcification of the auricular ...	ORPHA:3042
Moderate Hemophilia A	Cartilage destruction, Hip contracture	ORPHA:169805
Molybdenum Cofactor Deficiency, Complementation Group A	Long philtrum, Short nose, Thick vermilion border, Growth delay	OMIM:252150
Distal Deletion 3P	Brachycephaly, Micrognathia, Postaxial hand polydactyly, Clinodactyly of the 5th finger	ORPHA:1620
Dextrocardia	Abnormal foot morphology, Abnormal rib morphology, Congenital hip dislocation	ORPHA:1666
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Ischemic stroke, Right-to-left shunt, Lip telangiectasia, Spontaneous, rec...	OMIM:610655
Microphthalmia, Syndromic 1	Orofacial cleft, High, narrow palate, Radial deviation of finger, Hypospadias, Tooth malposition,...	OMIM:309800
Marden-Walker Syndrome	Muscular dystrophy, Retrognathia, Aplasia/Hypoplasia involving the skeletal musculature, Joint st...	ORPHA:2461
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Frontal bossing, Micrognathia, Plagiocephaly	OMIM:617193
X-Linked Intellectual Disability, Snyder Type	Brachycephaly, Pectus carinatum, Pectus excavatum, Camptodactyly, Arachnodactyly, Long toe, Slend...	ORPHA:3063
Developmental And Epileptic Encephalopathy 84	Plagiocephaly	OMIM:618792
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Brachycephaly, Contracture of the proximal interphalangeal joint of the 4th finger, Sprengel anom...	OMIM:618223
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Plagiocephaly	OMIM:616579
Warburg Micro Syndrome 4	Brachycephaly	OMIM:615663
Costello Syndrome	Limited elbow movement, Rhabdomyosarcoma, Tracheomalacia, Wide anterior fontanel, Hyperextensibil...	OMIM:218040
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Polysplenia	OMIM:616749
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Meconium ileus, Feeding difficulties, Knee flexion contracture	OMIM:617239
Trichorhinophalangeal Syndrome, Type Ii	Plagiocephaly, Hip subluxation, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phal...	OMIM:150230
Carey-Fineman-Ziter Syndrome 1	Plagiocephaly, Micrognathia, Tapered finger, Talipes equinovarus	OMIM:254940
Pituitary Adenoma 4, Acth-Secreting	Emotional lability, Abnormal fear-induced behavior, Hypokalemia	OMIM:219090
Encephalocraniocutaneous Lipomatosis	Abnormal cartilage morphology, Craniofacial hyperostosis	ORPHA:2396
Intellectual Developmental Disorder, Autosomal Dominant 58	Plagiocephaly	OMIM:618106
Hennekam Syndrome	Retrognathia, Supernumerary tooth, Delayed eruption of teeth, Pyloric stenosis, Camptodactyly of ...	ORPHA:2136
Hyperoxaluria, Primary, Type I	Increased bone mineral density, Intermittent claudication, Cutis marmorata, Raynaud phenomenon, A...	OMIM:259900
Griscelli Syndrome	Pyloric stenosis	ORPHA:381
Arthrogryposis And Ectodermal Dysplasia	Brachycephaly, Camptodactyly	OMIM:601701
Congenital Fibrosis Of Extraocular Muscles	Plagiocephaly, Finger aplasia	ORPHA:45358
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Craniosynostosis, Talipes, Plagiocephaly, Hip dysplasia	ORPHA:453499
Bladder Exstrophy And Epispadias Complex	Abnormal pelvic girdle bone morphology	OMIM:600057
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Brachycephaly, Plagiocephaly, Tapered finger	OMIM:301072
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Brachycephaly	OMIM:619244
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Arthritis, Mandibular prognathia, Abnormality of exocrine pancreas physiology, Pyloric stenosis, ...	ORPHA:93111
Knobloch Syndrome 2	Pyloric stenosis, Enamel hypoplasia, Micrognathia, Chronic constipation	OMIM:618458
Atresia Of Urethra	Abdominal distention, Pulmonary insufficiency	ORPHA:105
Adult-Onset Still Disease	Cartilage destruction	ORPHA:829
Cardiac Valvular Dysplasia 1	Valvular pulmonary stenosis, Tricuspid stenosis, Tricuspid regurgitation, Subpulmonary stenosis, ...	OMIM:212093
Osteopetrosis With Renal Tubular Acidosis	Brachycephaly, Plagiocephaly, Prominent floating ribs, Pectus excavatum, Micrognathia, Thickened ...	ORPHA:2785
X-Linked Intellectual Disability, Armfield Type	Brachycephaly, Micrognathia, Short foot, Small hand	ORPHA:85276
Chronic Granulomatous Disease	Pyloric stenosis, Malabsorption, Tracheoesophageal fistula	ORPHA:379
Faciocardiorenal Syndrome	Plagiocephaly	ORPHA:1973
Peroxisome Biogenesis Disorder 4B	Short nose	OMIM:614863
Congenital Disorder Of Deglycosylation 1	Brachycephaly, Short foot, Small hand	OMIM:615273
Oculocerebrorenal Syndrome Of Lowe	Abnormal metaphysis morphology, Genu valgum, Abnormal epiphysis morphology, Abnormal rib morpholo...	ORPHA:534
Renpenning Syndrome 1	Brachycephaly, Narrow foot, Pes cavus, Clinodactyly of the 5th finger, Pectus excavatum, Camptoda...	OMIM:309500
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Frontal bossing, Dolichocephaly, Tapered finger, Plagiocephaly	OMIM:619480
Townes-Brocks Syndrome	Abnormal foot morphology, Clinodactyly of the 5th finger, Triphalangeal thumb, Absent toe, Lower ...	ORPHA:857
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Brachycephaly, Pes cavus, Pes planus, Short foot, Slender finger, Congenital hip dislocation, Pos...	ORPHA:480880
White-Sutton Syndrome	Brachycephaly	ORPHA:468678
Multicystic Dysplastic Kidney	Abdominal distention, Hypertension	ORPHA:1851
Penile Agenesis	Short nose, Bilateral talipes equinovarus, Absent penis, Ambiguous genitalia, Cryptorchidism, Dep...	ORPHA:49
Congenital Myopathy 13	Brachycephaly, Micrognathia, Bilateral talipes equinovarus	OMIM:255995
Lipodystrophy, Familial Partial, Type 7	Short nose, Narrow nasal ridge, Narrow mouth, Failure to thrive, Small for gestational age	OMIM:606721
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Brachycephaly, Prominent fingertip pads, Long fingers, Pes planus, Tapered finger, Pes valgus	OMIM:619950
Axenfeld-Rieger Syndrome, Type 1	Short philtrum, Oligodontia, Microdontia, Hypoplasia of the maxilla, Hypodontia, Wide nasal bridg...	OMIM:180500
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Talipes valgus, Plagiocephaly, Clinodactyly of the 5th finger, Hallux valgus, Frontal bossing, Sy...	ORPHA:466791
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Brachycephaly, Pes cavus, Pectus excavatum, Thoracolumbar kyphosis, Hallux valgus	ORPHA:2072
Faundes-Banka Syndrome	Plagiocephaly, Flexion contracture of toe, Frontal bossing, Micrognathia, Pes planus	OMIM:619376
Knobloch Syndrome	Joint hypermobility, Pyloric stenosis, Depressed nasal bridge	ORPHA:1571
Goodpasture Syndrome	Pulmonary hemorrhage, Anemia, Weight loss, Cyanosis	OMIM:233450
Bifid Nose With Or Without Anorectal And Renal Anomalies	Brachycephaly	OMIM:608980
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Low-output congestive heart failure, Poor suck, Pulmonary arterial hypertension, Tr...	ORPHA:99125
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Plagiocephaly, Micrognathia, Finger clinodactyly, Sagittal craniosynostosis, Small hand	OMIM:620455
Reactive Arthritis	Cartilage destruction	ORPHA:29207
Knobloch Syndrome 1	Spina bifida occulta, Pyloric stenosis, Joint hypermobility, Bulbous nose, Depressed nasal bridge	OMIM:267750
Branchiooculofacial Syndrome	Gastroesophageal reflux, Short nasal septum, Elbow flexion contracture, Facial palsy, Fusion of m...	OMIM:113620
Alkaptonuria	Cartilage destruction, Calcification of cartilage	ORPHA:56
Congenital Tracheal Stenosis	Cyanosis	ORPHA:141127
Autosomal Recessive Cutis Laxa Type 1	Pathologic fracture, Joint hypermobility, Pyloric stenosis, Small bowel diverticula	ORPHA:90349
Mowat-Wilson Syndrome	Bowel incontinence, Bifid uvula, Dysphagia, Dependency on intravenous nutrition, Aganglionic mega...	ORPHA:2152
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Brachycephaly, Micrognathia, Posterior rib fusion	OMIM:265380
Common Variable Immunodeficiency	Brachycephaly	ORPHA:1572
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aganglionic megacolon, Cleft hard palate, Right unicoronal synostosis, Episodic vomiting, Delayed...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bowel incontinence, Abnormal jaw morphology, Bifid uvula, Dysphagia, Aganglionic megacolon, Episo...	ORPHA:261552
Pagod Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:991
Short Stature With Nonspecific Skeletal Abnormalities	Proportionate short stature	OMIM:616255
Aspartylglucosaminuria	Brachycephaly, Thickened calvaria, Hypoplastic frontal sinuses	OMIM:208400

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 Npr2

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 Npr2.

No publications found that use IMPC mice or data for Npr2.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Npr2^{tm380425(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Npr2^em1(IMPC)H	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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