Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
NIPBL cohesin loading factor
Synonyms:
4921518A06Rik,  4933421G18Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Nipbl 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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Failure to thrive, Rhizomelia, Short humerus, Short femur OMIM:600121
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... ORPHA:2019
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... OMIM:200700
Multiple Epiphyseal Dysplasia With Robin Phenotype
Talipes equinovarus, Short humerus, Short femur, Irregular epiphyses, Micrognathia, Intrauterine ... OMIM:601560
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metaphysis, Hip dysplasia, Limita... OMIM:619598
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Angioosteohypotrophic Syndrome
Abnormality of the hand, Upper limb undergrowth, Hypertrophy of the upper limb, Thin bony cortex,... ORPHA:75508
Rhizomelic Dysplasia, Patterson-Lowry Type
Short metatarsal, Rhizomelia, Coxa vara, Short metacarpal, Short humerus, Deformed humeral heads,... OMIM:601438
Omodysplasia 2
Limited elbow flexion, Dislocated radial head, Hypoplastic distal humeri, Rhizomelic arm shorteni... OMIM:164745
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Long clavicles, Genu varum, Lateral clavicle hook, Phocomelia, Aplasia/Hypoplasia of the thumb, S... OMIM:171480
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/hypoplasia of the humerus, Abnormality of femur morphology, Abnormal scapula morphology, ... ORPHA:2141
Microcephaly 13, Primary, Autosomal Recessive
Partial agenesis of the corpus callosum, Micrognathia, Intrauterine growth retardation, Short sta... OMIM:616051
Rhizomelic Chondrodysplasia Punctata, Type 2
Micrognathia, Failure to thrive, Rhizomelia, Osteopenia, Stippled calcification proximal humeral ... OMIM:222765
Metaphyseal Acroscyphodysplasia
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... OMIM:250215
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Holt-Oram Syndrome
Pectus excavatum, Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminence, Aplasi... OMIM:142900
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Abnormality of the elbow, Finger syndactyly, Abnormal rib morphology, Clinodact... ORPHA:3268
Microcephaly 16, Primary, Autosomal Recessive
Micrognathia, Adducted thumb, Short stature, Ptosis, Telecanthus, Spastic tetraplegia, Knee flexi... OMIM:616681
Rhizomelic Chondrodysplasia Punctata, Type 5
Talipes equinovarus, Swan neck-like deformities of the fingers, Metaphyseal irregularity, Narrow ... OMIM:616716
Autism Spectrum Disorder Due To Auts2 Deficiency
Eczema, Short stature, Cerebral palsy, Bilateral ptosis, Joint contracture of the hand, Stereotyp... ORPHA:352490
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Joint contracture of the hand, Broad hallux, Delayed cranial suture closure... OMIM:175700
Chromosome 3Pter-P25 Deletion Syndrome
Short stature, Hearing impairment, Postnatal growth retardation, Highly arched eyebrow, Micrognat... OMIM:613792
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Talipes equinovarus, Short stature, Hearing impairment, Protruding ear, Decreased body weight, Hi... OMIM:617452
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Talipes equinovarus, Short stature, Cerebral palsy, Hearing impairment, Aplasia/Hypoplasia of the... ORPHA:505237
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Cornelia De Lange Syndrome 2
Hypertrophic cardiomyopathy, Highly arched eyebrow, Micrognathia, Intrauterine growth retardation... OMIM:300590
Kyphomelic Dysplasia
Thoracic hypoplasia, Micrognathia, Tibial bowing, Radial bowing, Anterior rib cupping, Talipes eq... OMIM:211350
Catel-Manzke Syndrome
Highly arched eyebrow, Ventricular septal defect, Micrognathia, Metatarsus valgus, Short stature,... ORPHA:1388
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Growth delay, Short stature, Failure to thrive, Abnormal heart morphology, Leukoencephalopathy, R... OMIM:617744
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Pectus carinatum, Metaphyseal widening, Metaphyseal irregularity, Enlargement of th... OMIM:609052
Al Kaissi Syndrome
Short stature, Torticollis, Telecanthus, Postnatal growth retardation, Decreased body weight, Int... OMIM:617694
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Genu valgum, Deviation of finger, Coxa vara, Short metacarpal, Short humerus, Deforme... ORPHA:2831
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short stature, Short 1st metacarpal, Brachyd... OMIM:113100
Gombo Syndrome
Abnormal heart morphology, Radial deviation of finger, Brachydactyly, Clinodactyly, Delayed puber... OMIM:233270
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Micrognathia, Hypoplastic scapulae, Talipes equinovarus, Rhizomelia, Scapulohumeral synostosis, D... OMIM:602471
Corpus Callosum, Agenesis Of
Growth delay, Joint contracture of the hand, Frontal bossing, Macrocephaly, Camptodactyly, Agenes... OMIM:217990
Aminopterin Syndrome Sine Aminopterin
Short stature, Joint contracture of the hand, Syndactyly, Decreased body weight, Umbilical hernia... OMIM:600325
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Lytic defects of humeral diaphysis, Fibular hyp... OMIM:601376
Kyphomelic Dysplasia
Micrognathia, Anterior rib cupping, Lateral clavicle hook, Large hands, Bowing of the long bones,... ORPHA:1801
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign, Perisylvian polymicrogyr... OMIM:615663
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Ventricular septal defect, Micrognathia, Cloverleaf skull, Large fontanelles, Abnorm... ORPHA:93267
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the elbow, Split hand, Abnormality of the wrist, Postaxial hand polydactyly, Short... ORPHA:2491
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Asymmetric radial dysplasia, Abn... ORPHA:2878
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Short stature, Delayed epiphyseal ossification, Wide nasal bridge, Genu va... ORPHA:166024
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebellar cyst, Polymicrogyria, Cerebral atrophy, Partial agenesis of the corpus callosum, Ventr... ORPHA:79243
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, Intrauterine growth retardation, Adducted thumb, Rocker bottom foot, Microlis... ORPHA:89844
Warburg Micro Syndrome 3
Optic atrophy, Decreased muscle mass, Micrognathia, Brachycephaly, Short nose, Macrotia, Cerebral... OMIM:614222
Warburg Micro Syndrome 1
Optic atrophy, Micrognathia, Perisylvian polymicrogyria, Short stature, Ptosis, Failure to thrive... OMIM:600118
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, 11 pairs of ribs, Short humerus, Cl... OMIM:108720
Pierpont Syndrome
Short stature, Large fleshy ears, Short nose, Telecanthus, Hearing impairment, Short toe, Decreas... OMIM:602342
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Unilateral polymicrogyria, Lissencephaly, Hemiparesis, Microcephaly, Pachygyria, Cerebellar hypop... OMIM:610031
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Small anterior fontanelle, Ventricular septal defect, Metopic suture patent to nasal root, Small ... ORPHA:3369
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Short stature, Camptodactyly, Aortic valve stenosis, Micrognathia, ... ORPHA:459061
Cerebrooculofacioskeletal Syndrome 1
Micrognathia, Agenesis of corpus callosum, Rocker bottom foot, Second metatarsal posteriorly plac... OMIM:214150
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormality of the carpal bones, Broad palm, Upper limb undergrowth, Pectus carinatum, Abnormalit... ORPHA:93351
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Eng-Strom Syndrome
Ventricular septal defect, Intrauterine growth retardation, Short stature, Arthritis, Abnormal ca... ORPHA:1937
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, 2-3 toe syndactyly, Skeletal muscle atrophy, Tapered f... OMIM:218000
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Prominent deltoid tuberosities, Rhizomelia, Short ribs, Short humerus, Broad rib... OMIM:610319
Fetal Trimethadione Syndrome
Ventricular septal defect, Micrognathia, Intrauterine growth retardation, Brachycephaly, Ptosis, ... ORPHA:1913
Carpenter Syndrome 1
Omphalocele, Genu varum, Short stature, Telecanthus, Joint contracture of the hand, Deviation of ... OMIM:201000
Pierpont Syndrome
Abnormal cortical gyration, Narrow palpebral fissure, Chiari malformation, Small for gestational ... ORPHA:487825
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Eczema, Stereotypy, Polymicrogyria, Cerebellar hypoplasia, Abnormal perive... ORPHA:500159
Chromosome 15Q26-Qter Deletion Syndrome
Micrognathia, Short middle phalanx of finger, Intrauterine growth retardation, Talipes equinovaru... OMIM:612626
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Small for gestational age, Failure to thrive, Rhizomelia, Short ribs, Hypopl... OMIM:607143
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short stature, Short nose, Hearing impairment, Syndactyly, Incoordination, Camptodactyly, Umbilic... ORPHA:369891
Heart-Hand Syndrome Type 2
Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elbow, Aplasia/Hypoplasia of th... ORPHA:1350
Microcephaly-Capillary Malformation Syndrome
Optic atrophy, Ventricular septal defect, Cerebral atrophy, Small for gestational age, Ptosis, Ri... OMIM:614261
Mental Retardation, Autosomal Dominant 26
Highly arched eyebrow, Decreased palmar creases, Small for gestational age, Brachycephaly, Cerebr... OMIM:615834
Distal Monosomy 10Q
Short stature, Short metatarsal, Short nose, Postnatal growth retardation, Cerebellar hypoplasia,... ORPHA:96148
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Micrognathia, Growth delay, Brachycephaly, Double outlet right ventric... OMIM:179613
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Short stature, Short nose, Telecanthus, Cubitus valgus, Camptodactyly of finger, S... ORPHA:1327
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Small cerebral cortex, Ptosis, Upslanted palpebral fissure, Epicanthus... OMIM:617360
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Tapered finger, Ptosis, Long fingers, Upslanted palpebral fissure, Sho... OMIM:613458
Ulnar Hypoplasia
Radial bowing, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the radius, D... OMIM:191440
Acromesomelic Dysplasia 2C
Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge... OMIM:201250
Frontonasal Dysplasia 1
Conductive hearing impairment, Frontal cutaneous lipoma, Ptosis, Epicanthus, Joint contracture of... OMIM:136760
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Intrauterine growth retardation, Small hand, Arthrogryposis multiplex congenita, Spastic tetraple... OMIM:615282
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Large fleshy ears, Short nose, Telecanthus, Multiple prenatal fractures, Cerebellar hypoplasia, S... OMIM:616897
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Short stature, Short nose, Low-set, posteriorly rotated ears, Ab... ORPHA:2370
6Q25 Microdeletion Syndrome
Plagiocephaly, Micrognathia, Rocker bottom foot, Short stature, Failure to thrive, Upslanted palp... ORPHA:251056
Roifman Syndrome
Eczema, Hip contracture, Short stature, Prominent eyelashes, Postnatal growth retardation, Short ... OMIM:616651
Roifman Syndrome
Eczema, Hip contracture, Short stature, Prominent eyelashes, Epiphyseal dysplasia, Postnatal grow... ORPHA:353298
Greig Cephalopolysyndactyly Syndrome
Toe syndactyly, Broad hallux phalanx, Agenesis of corpus callosum, Broad thumb, Congenital diaphr... ORPHA:380
Symbrachydactyly Of Hands And Feet
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... ORPHA:1570
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular ... ORPHA:2790
Ventriculomegaly And Arthrogryposis
Micrognathia, Talipes equinovarus, Hand clenching, Arthrogryposis multiplex congenita, Cerebellar... OMIM:619501
Microcephaly 5, Primary, Autosomal Recessive
Highly arched eyebrow, Small cerebral cortex, Short stature, Simplified gyral pattern, Hearing im... OMIM:608716
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Inverted Duplicated Chromosome 15 Syndrome
2-3 toe syndactyly, Ventricular septal defect, Growth delay, Talipes equinovarus, Brachycephaly, ... ORPHA:3306
Even-Plus Syndrome
Atopic dermatitis, Highly arched eyebrow, Dysplastic corpus callosum, Brachycephaly, Dysplasia of... OMIM:616854
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Highly arched eyebrow, Ventricular septal defect, Micrognathia, Intrauterine growth retardation, ... OMIM:618142
Craniofrontonasal Dysplasia
Plagiocephaly, Broad hallux phalanx, Brachycephaly, Congenital diaphragmatic hernia, Craniosynost... ORPHA:1520
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Ventricular septal defect, Short stature, Obesity, Ventricular septal hypertrophy,... OMIM:614947
Autosomal Recessive Spastic Paraplegia Type 67
Babinski sign, Agenesis of corpus callosum, Spastic gait, Limb tremor, Generalized amyotrophy, Lo... ORPHA:401820
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Multifocal cerebral white matter abnormalities, Tapered finger, Brachycephaly, Large fleshy ears,... ORPHA:352530
Non-Distal Trisomy 10Q
Micrognathia, Short stature, Brachycephaly, Short nose, Low-set, posteriorly rotated ears, Downsl... ORPHA:1695
Filippi Syndrome
Optic atrophy, Ventricular septal defect, Cerebellar atrophy, Intrauterine growth retardation, Wi... OMIM:272440
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Plagiocephaly, Failure to thrive in infancy, Cachexia, Intrauterine growth retardation, Hip contr... OMIM:616801
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Short stature, Overfolded helix, Short nose, Postnatal growth retardation,... OMIM:243310
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Finger syndactyly, Abnormal palmar dermatoglyphi... ORPHA:3246
Muenke Syndrome
Short middle phalanx of finger, Capitate-hamate fusion, Hearing impairment, Broad hallux, Cone-sh... OMIM:602849
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Cerebral atrophy, Mitral valve prolapse, Adducted thumb, Talipes equinovarus, Brachycephaly, Shor... OMIM:615539
Leri-Weill Dyschondrosteosis
Abnormality of the carpal bones, Madelung deformity, Tibial bowing, Radial bowing, Abnormal metat... OMIM:127300
Masa Syndrome
Short stature, Hand clenching, Camptodactyly of finger, Spastic paraplegia, Clinodactyly of the 5... ORPHA:2466
Mental Retardation, Buenos Aires Type
Carious teeth, Partial agenesis of the corpus callosum, Protruding ear, Ptosis, Mandibular progna... OMIM:249630
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
3Q13 Microdeletion Syndrome
Epicanthus, Wide nasal bridge, Abnormality of the fontanelles or cranial sutures, Macrocephaly, J... ORPHA:1621
Jaberi-Elahi Syndrome
Optic atrophy, Sparse eyelashes, Cerebellar atrophy, Talipes equinovarus, Choreoathetosis, Dysmet... OMIM:617988
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hip contracture, Talipes equinovarus, Short nose, Telecanthu... OMIM:193700
Lissencephaly 4
Growth delay, Short stature, Simplified gyral pattern, Hypertonia, Cerebellar hypoplasia, Lissenc... OMIM:614019
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Toe syndactyly, Micrognathia, Chiari malformation, Large fontanelles, Brachycephaly, Obesity, Bow... ORPHA:171839
Bohring-Opitz Syndrome
Short stature, Deep palmar crease, Syndactyly, Short toe, Camptodactyly, Broad palm, Ventricular ... OMIM:605039
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Hand tremor, Spastic dysarthria, Lower limb spasticity, Aplasia/Hypo... ORPHA:401830
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Optic atrophy, Micrognathia, Rocker bottom foot, Hand clenching, Arthrogryposis multiplex congeni... OMIM:618766
8Q12 Microduplication Syndrome
Highly arched eyebrow, Ventricular septal defect, Abnormal cranial nerve morphology, Brachycephal... ORPHA:228399
Kohlschutter-Tonz Syndrome-Like
Carious teeth, 2-3 toe syndactyly, Global brain atrophy, Delayed eruption of teeth, Stereotypy, D... OMIM:619229
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Type A brachydactyly, Hypoplasia ... OMIM:112910
Autosomal Dominant Omodysplasia
Micrognathia, Rhizomelia, Short 1st metacarpal, Short palm, Short humerus, Elbow dislocation ORPHA:93328
Severe X-Linked Intellectual Disability, Gustavson Type
Triphalangeal thumb, Short nose, Cerebellar hypoplasia, Profound hearing impairment, Ventricular ... ORPHA:3078
Pontocerebellar Hypoplasia, Type 3
Optic atrophy, Cerebellar atrophy, Short stature, Brachycephaly, Hypoplasia of the pons, Macrotia... OMIM:608027
Congenital Muscular Dystrophy, Fukuyama Type
Plagiocephaly, Optic atrophy, Dilated cardiomyopathy, Myopathy, Intrauterine growth retardation, ... ORPHA:272
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Micrognathia, Ulnar deviation of the hand, Brachycephaly, Metaphyseal widening, Larg... OMIM:263210
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dysgenesis of the hippocampus, Torticollis, Bilateral ptosis, Cubitus valgus, Spastic ataxia, Ste... ORPHA:300570
Radio-Tartaglia Syndrome
Hearing impairment, Stereotypy, Brachydactyly, Large earlobe, Conductive hearing impairment, Vent... OMIM:619312
Lethal Faciocardiomelic Dysplasia
Intrauterine growth retardation, Radial club hand, Fibular hypoplasia, Hypoplasia of the radius, ... ORPHA:1972
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Dandy-Walker malformation, Ventricular septal defect, Sparse eyelashes, Micrognathia, Short statu... OMIM:616901
Myopathy, Congenital, Bailey-Bloch
Conductive hearing impairment, Micrognathia, Skeletal muscle atrophy, Short stature, Brachycephal... OMIM:255995
Trisomy 10P
Abnormal hip joint morphology, Abnormal auditory evoked potentials, Talipes equinovarus, Short no... ORPHA:171929
Pde4D Haploinsufficiency Syndrome
Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Short nose, Abnormal de... ORPHA:439822
3P25.3 Microdeletion Syndrome
Congenital pseudoarthrosis of the clavicle, Proximal placement of thumb, Stereotypy, Broad hallux... ORPHA:435638
Intellectual Disability-Strabismus Syndrome
Talipes equinovarus, Short stature, Short nose, Telecanthus, Joint contracture of the hand, Heari... ORPHA:363528
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Flat occiput, Shagreen patch, Cone-shaped epiphysis, Large fontanelles, Brachycephaly, Ptosis, Ma... ORPHA:2511
Marden-Walker Syndrome
Talipes equinovarus, Joint contracture of the hand, Postnatal growth retardation, Cerebellar hypo... OMIM:248700
Jeune Syndrome
Toe syndactyly, Cone-shaped epiphysis, Abnormal sternum morphology, Abnormal clavicle morphology,... ORPHA:474
Acrocallosal Syndrome
Short nose, Finger syndactyly, Hearing impairment, Postnatal growth retardation, Aplasia/Hypoplas... OMIM:200990
Cornelia De Lange Syndrome 5
Toe syndactyly, Highly arched eyebrow, Micrognathia, Short stature, Brachycephaly, Ptosis, Small ... OMIM:300882
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Talipes equinovarus, Deep palmar crease, Short stature, Global brain atrophy, Telecanthus, Hearin... OMIM:301056
Achondroplasia
Conductive hearing impairment, Limited hip extension, Genu varum, Megalencephaly, Neonatal short-... OMIM:100800
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Micrognathia, Agenesis of corpus callosum, Ptosis, Short nose, Abnormality of the pinna, Proximal... OMIM:217980
Lissencephaly 3
Spastic tetraplegia, Lissencephaly, Ataxia, Cerebellar vermis hypoplasia, Pachygyria, Polymicrogy... OMIM:611603
Chromosome 10Q26 Deletion Syndrome
Toe syndactyly, Micrognathia, Small for gestational age, Short stature, Upslanted palpebral fissu... OMIM:609625
Smith-Magenis Syndrome
Broad palm, Morphological abnormality of the middle ear, Short stature, Brachycephaly, Mandibular... OMIM:182290
Sub-Cortical Nodular Heterotopia
EEG with focal slow activity, Abnormal cerebral cortex morphology, EEG with focal spikes, Polymic... ORPHA:101029
4Q21 Microdeletion Syndrome
Toe syndactyly, Intrauterine growth retardation, Growth delay, Large fontanelles, Ptosis, Small h... ORPHA:238750
Boomerang Dysplasia
Poorly ossified vertebrae, Abnormality of the ulna, Abnormality of femur morphology, Abnormally o... ORPHA:1263
Metatropic Dysplasia
Long thorax, Abnormality of the metaphysis, Abnormal cortical bone morphology, Coarse metaphyseal... ORPHA:2635
Mental Retardation, Autosomal Dominant 22
Micrognathia, Growth delay, Short stature, Abnormality of the pinna, Epicanthus, Agenesis of corp... OMIM:612337
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Colpocephaly, Overfolded helix, Short nose, Proximal placement of thumb, H... OMIM:618619
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Microcephaly 17, Primary, Autosomal Recessive
Microlissencephaly, Short stature, Failure to thrive, Macrotia, Simplified gyral pattern, Hypopla... OMIM:617090
Coffin-Siris Syndrome 6
Plagiocephaly, Conductive hearing impairment, Narrow palpebral fissure, Micrognathia, Short statu... OMIM:617808
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Short middle phalanx of finger, Short stature, Microce... ORPHA:391646
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad palm, Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Pectus carinat... OMIM:271650
Coffin-Siris Syndrome 7
Short stature, Trigonocephaly, Abnormal heart morphology, Recurrent otitis media, Macrotia, Poste... OMIM:618027
19P13.12 Microdeletion Syndrome
Conductive hearing impairment, Ventricular septal defect, Intrauterine growth retardation, Brachy... ORPHA:254346
German Syndrome
Micrognathia, Short stature, Brachycephaly, Arthrogryposis multiplex congenita, Wide nasal bridge... ORPHA:2077
Bowen Syndrome Of Multiple Malformations
Failure to thrive, Abnormal heart morphology, Micrognathia, Agenesis of corpus callosum OMIM:211200
21Q22.11Q22.12 Microdeletion Syndrome
Short stature, Short palpebral fissure, Stereotypical body rocking, Short proximal phalanx of the... ORPHA:261323
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Abnormality of the humerus, Ulnar deviation of finger, Cubitus valgus, Synosto... ORPHA:1836
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Short stature, Upslanted palpebral fissure, Absent septum pellucidum, Simplified gyral pattern, H... OMIM:618492
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 5th metacarpal, Curved distal phalanx of the thumb, Short stature, Short palpebral fissure,... ORPHA:370010
Mosaic Trisomy 1
Small anterior fontanelle, Omphalocele, Deviation of the 5th toe, Broad toe, Complete duplication... ORPHA:1692
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Severe sensorineural hearing... OMIM:604213
Feingold Syndrome 2
2-3 toe syndactyly, Ventricular septal defect, Short stature, 3-4 toe syndactyly, Short middle ph... OMIM:614326
Lujan-Fryns Syndrome
Micrognathia, Brachycephaly, Arachnodactyly, Brachydactyly, Atrial septal defect, Aplasia/Hypopla... ORPHA:776
Microcephaly-Microcornea Syndrome, Seemanova Type
Progressive spasticity, Growth delay, Short stature, Brachycephaly, Upslanted palpebral fissure, ... ORPHA:2528
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Type 2 muscle fiber atrophy, Choreoathetosis, Distal amyotrophy, Facia... OMIM:617519
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Intrauterine growth retardation, Short stature, Short distal phalanx of toe, Brachycephaly, Abnor... ORPHA:1292
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Ptosis, Choreoathetosis, Wide nasal bridge, Frontal bossing, Basal gan... OMIM:312170
Achondrogenesis, Type Ia
Short clavicles, Hypoplastic scapulae, Abnormal hand bone ossification, Unossified vertebral bodi... OMIM:200600
Trigonocephaly With Short Stature And Developmental Delay
Small anterior fontanelle, Ventricular septal defect, Small for gestational age, Short stature, T... OMIM:314320
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Short nose, Prominent fingertip pads, Oromotor apraxia, Downslanted palpebral fissures, EEG abnor... ORPHA:391372
Adenylosuccinate Lyase Deficiency
Flat occiput, Hypointensity of cerebral white matter on MRI, Brachycephaly, Short nose, Prominent... ORPHA:46
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Intrauterine growth retardation, Almond-shaped palpebral fissure, Abnormality of the upper limb, ... ORPHA:521308
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Eczema, Stereotypy, Polymicrogyria, Camptodactyly of finger, Cerebellar hypoplasia, Cerebral atro... ORPHA:468631
Chromosome 5P13 Duplication Syndrome
Agenesis of corpus callosum, Small for gestational age, Brachycephaly, Long fingers, Upslanted pa... OMIM:613174
Chromosome 2P16.1-P15 Deletion Syndrome
Short stature, Telecanthus, Joint contracture of the hand, Short palpebral fissure, Cerebral atro... OMIM:612513
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Short stature, Stereotypy, Tremor, Ataxia, Progressive microcephaly, Hypoplas... OMIM:617862
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Babinski sign, Dysplastic corpus callosum, Talipes equinovarus, Spastic gait, Lowe... OMIM:613162
Gómez-López-Hernández Syndrome
Short stature, Brachycephaly, Telecanthus, Ataxia, Cerebellar vermis hypoplasia, Turricephaly, Mi... ORPHA:1532
Kleefstra Syndrome Due To A Point Mutation
Plagiocephaly, Midface retrusion, Short stature, Tapered finger, Brachycephaly, Abnormal heart mo... ORPHA:261652
Insulin-Like Growth Factor I, Resistance To
Short stature, Decreased body weight, Highly arched eyebrow, Ventricular septal defect, Micrognat... OMIM:270450
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Bilateral ptosis, Stereotypy, Thin corpus callosum, Cerebellar hypoplasia, Plagiocephaly, Partial... OMIM:619512
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Narrow chest, Bell-shaped thorax, ... OMIM:615633
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Linear Skin Defects With Multiple Congenital Anomalies 2
Highly arched eyebrow, Optic disc pallor, Short stature, Ventricular hypertrophy, Short nose, Pos... OMIM:300887
Cutis Laxa, Autosomal Recessive, Type Iib
Intrauterine growth retardation, Large fontanelles, Failure to thrive, Bowing of the long bones, ... OMIM:612940
Coffin-Siris Syndrome 5
Dandy-Walker malformation, Intrauterine growth retardation, Short stature, Ptosis, Long eyelashes... OMIM:616938
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Micrognathia, Talipes equinovarus, Cerebellar dysplasia, Arthrogryposis multiplex congenita, Over... OMIM:616531
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Thickened calvaria, Brachycephaly, Craniosynostosis, Facial palsy, Broad jaw, Hear... ORPHA:178377
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Intrauterine growth retardation, Choreoathetosis, Ptosis, Caudate atrophy, Failure... OMIM:618238
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Large earlobe, Broad eyebrow, Upslanted palpebral fissure, Sensorineural hearing impairment, Clin... OMIM:612948
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Ataxia, Spasticity, Abnormality of the ba... ORPHA:99852
Smith-Magenis Syndrome
Short stature, Chronic otitis media, Short nose, Corticospinal tract hypoplasia, Stereotypy, Apla... ORPHA:819
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Growth delay, Talipes equinovarus, Short stature, Short 5th finger, Short foot, Atrial septal def... ORPHA:52056
Potocki-Shaffer Syndrome
Brachycephaly, Sparse lateral eyebrow, Short nose, Telecanthus, Wormian bones, Wide nasal bridge,... OMIM:601224
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Optic atrophy, Hypoplasia of the pons, Myoclonus, Cerebral cortical atrophy, Hypsarrhythmia, Hear... OMIM:617669
Lissencephaly, X-Linked, 1
Ataxia, Pachygyria, Postnatal growth retardation, Agyria, Spasticity, Lissencephaly, Agenesis of ... OMIM:300067
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal ilium morphology, Short middle phalanx of finger, Genu varum, Short greater sciatic notc... ORPHA:93314
Emanuel Syndrome
Truncus arteriosus, Hooded eyelid, Broad jaw, Delayed eruption of teeth, Hearing impairment, Cere... ORPHA:96170
Cerebrofacioarticular Syndrome
Talipes equinovarus, Short stature, Syndactyly, Camptodactyly, Hypoplasia of the maxilla, Conduct... ORPHA:314679
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Delayed cranial suture closure, Aortic... ORPHA:2780
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect, Short stature, Brachycephaly, Failure to thrive, Macrotia, Posteriorly... OMIM:212066
Chromosome 20Q11-Q12 Deletion Syndrome
Intrauterine growth retardation, Adducted thumb, Midface retrusion, Hearing impairment, Frontal b... OMIM:614257
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... ORPHA:750
Developmental And Epileptic Encephalopathy 88
Partial agenesis of the corpus callosum, Growth delay, Hypoplasia of the pons, Hypsarrhythmia, In... OMIM:618959
Spondylometaphyseal Dysplasia, East African Type
Genu varum, Metaphyseal widening, Rounded epiphyses, Disproportionate short-limb short stature, C... OMIM:611702
Ritscher-Schinzel Syndrome 1
Dandy-Walker malformation, Ventricular septal defect, Micrognathia, Intrauterine growth retardati... OMIM:220210
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Lissencephaly, Hypoplasia of the brainstem, Polymicrogyria, Spasticity, Hypoplasia of the corpus ... OMIM:614039
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Micrognathia, Anterior hypopituitarism, Short stature, Long eyelashes, Wormian bone... ORPHA:2863
17Q23.1Q23.2 Microdeletion Syndrome
Short stature, Chronic otitis media, Coxa magna, Hearing impairment, Shallow acetabular fossae, P... ORPHA:261279
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Coxa vara, Limitation of joint mobility, Short palm, Micromelia ORPHA:168555
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Cerebral white matter hypoplasia, Failure to thrive, Hypsarrhythmia, Stereotypical hand wringing,... ORPHA:500545
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Cupped ribs, Iliac crest serration... ORPHA:168549
Pentasomy X
Plagiocephaly, Micrognathia, Short stature, Upslanted palpebral fissure, Small hand, Wide nasal b... ORPHA:11
Chromosome 13Q33-Q34 Deletion Syndrome
Talipes equinovarus, Short stature, Delayed eruption of teeth, Hearing impairment, Camptodactyly,... OMIM:619148
Spastic Paraplegia 20, Autosomal Recessive
Short stature, Camptodactyly, Lower limb muscle weakness, Knee clonus, Dysmetria, Ankle clonus, C... OMIM:275900
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
2-3 toe syndactyly, Micrognathia, Tapered finger, Upslanted palpebral fissure, Short nose, Macrot... OMIM:617061
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Tongue fasciculations, Dysplastic corpus callosum, Skeletal muscle atrophy, F... OMIM:618276
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Micrognathia, Brachycephaly, Short nose, Long eyelashes, Wide nasal bridge, Unilam... OMIM:618577
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Hearing impairment, Joint hypermobility, Decreased head circumference... ORPHA:500166
Brachydactyly, Type A1
Radial deviation of the 3rd finger, Short stature, Aplasia/Hypoplasia of the middle phalanges of ... OMIM:112500
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Short stature, Hearing impairment, Cerebellar hypoplasia, Protruding ear, Cutaneous syndactyly of... OMIM:300998
De Barsy Syndrome
Talipes equinovarus, Short stature, Delayed eruption of teeth, Postnatal growth retardation, Umbi... ORPHA:2962
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Small for gestational age, Fibular hypoplasia, Short 5th finger, Hypoplasia of the ... OMIM:227270
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Tibial bowing, Genu varum, Radial bowing, Flared iliac wing, Osteoarthritis, Rhi... OMIM:602111
Suleiman-El-Hattab Syndrome
Palpebral thickening, Overfolded helix, Hearing impairment, Protruding ear, Microretrognathia, Hi... OMIM:618950
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Laterally extended eyebrow, Short stature, Hooded eyelid, Proximal placeme... OMIM:610759
Sotos Syndrome
Conductive hearing impairment, Ventricular septal defect, Partial agenesis of the corpus callosum... OMIM:117550
Okur-Chung Neurodevelopmental Syndrome
Highly arched eyebrow, Micrognathia, Ptosis, Failure to thrive, Abnormal heart morphology, Epican... OMIM:617062
Distal 7Q11.23 Microdeletion Syndrome
Chiari malformation, Atrial septal defect, Porencephalic cyst, Microcephaly ORPHA:254351
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Mandibular prognathia, Epicanthu... ORPHA:1919
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Telecanthus, Short palpebral fissure, Umbilical hernia, Ventricular septal defect, Roc... OMIM:612582
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Failure to thrive, Stereotypy, Spasticity, Cerebral atrophy, Flexion contracture, Microcephaly OMIM:617393
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Hernia of the abdominal wall, Micrognathia, Abnormal mitral valve morphology, Mesomelia, Brachyda... ORPHA:1277
Chromosome 2Q37 Deletion Syndrome
Highly arched eyebrow, Eczema, Narrow palpebral fissure, Short stature, Brachycephaly, Short meta... OMIM:600430
Usmani-Riazuddin Syndrome, Autosomal Recessive
Conjunctival hyperemia, Epicanthus, Posteriorly rotated ears, Spasticity, Agenesis of corpus call... OMIM:619548
Beta-Mercaptolactate Cysteine Disulfiduria
Short stature, Low-set, posteriorly rotated ears, Arachnodactyly, Hypoplasia of the ear cartilage... ORPHA:1035
20Q11.2 Microdeletion Syndrome
Intrauterine growth retardation, Adducted thumb, Midface retrusion, Hearing impairment, Frontal b... ORPHA:444051
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Talipes equinovarus, Telecanthus, Short palpebral fissure, Aplasia/Hypoplasia of the cerebellum, ... ORPHA:397709
Holoprosencephaly, Recurrent Infections, And Monocytosis
Short finger, Tapered finger, Brachycephaly, Failure to thrive, Abnormality of the pinna, Epicant... OMIM:610680
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy, Micrognathia, Skeletal muscle atrophy, ... OMIM:615419
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Brachycephaly, Failure to thrive, Chorea, Abnormal heart morphology,... ORPHA:70472
Frank-Ter Haar Syndrome
Talipes equinovarus, Camptodactyly, Delayed cranial suture closure, Protruding ear, Short phalanx... OMIM:249420
Desmosterolosis
Short nose, Polymicrogyria, Increased bone mineral density, Anomalous pulmonary venous return, La... ORPHA:35107
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
2-3 toe syndactyly, Ventricular septal defect, Intrauterine growth retardation, Micrognathia, Sho... OMIM:617164
Hypochondroplasia
Genu varum, Frontal bossing, Macrocephaly, Childhood onset short-limb short stature, Limited elbo... OMIM:146000
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Partial agenesis of the corpus callosum, Pneumonia, Hypoplastic hi... ORPHA:85179
Juberg-Hayward Syndrome
Toe syndactyly, Intrauterine growth retardation, Abnormality of the elbow, Hammertoe, Hypoplasia ... ORPHA:2319
Rhizomelic Syndrome, Urbach Type
Micrognathia, Triphalangeal thumb, Abnormality of the elbow, Short stature, Abnormality of epiphy... ORPHA:3098
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hallux valgus, 2-3 toe syndactyly, Hearing impairment, Broad hallux, Short toe, Cerebral atrophy,... OMIM:618659
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
3C Syndrome
Short stature, Short nose, Finger syndactyly, Aplasia/Hypoplasia of the cerebellum, Postnatal gro... ORPHA:7
9P13 Microdeletion Syndrome
Highly arched eyebrow, Metopic synostosis, Short stature, Brachycephaly, Hand tremor, Recurrent o... ORPHA:324313
Gomez-Lopez-Hernandez Syndrome
Short stature, Brachycephaly, Agenesis of cerebellar vermis, Craniosynostosis, Short nose, Poster... OMIM:601853
Foxg1 Syndrome
Severe postnatal growth retardation, Short stature, Choreoathetosis, Myoclonus, Abnormal corpus c... ORPHA:561854
Congenital Disorder Of Glycosylation, Type Iig
Talipes equinovarus, Hearing impairment, Postnatal growth retardation, Camptodactyly, Cerebral at... OMIM:611209
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Partial agenesis of the corpus callosum, Eczema, Postnatal growth retardation, Intrauterine growt... OMIM:233810
Masa Syndrome
Adducted thumb, Talipes equinovarus, Short stature, Paraplegia, Lower limb spasticity, Macrocepha... OMIM:303350
Shashi-Pena Syndrome
Highly arched eyebrow, Ptosis, Osteoporosis, Posteriorly rotated ears, Atrial septal defect, Macr... OMIM:617190
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Long thorax, Intrauterine growth retardation, Small for gestational age, Failure to thrive, Cubit... OMIM:608154
Christianson Syndrome
Decreased muscle mass, Cachexia, Cerebellar atrophy, Adducted thumb, Mandibular prognathia, Macro... ORPHA:85278
Ulna Hypoplasia-Intellectual Disability Syndrome
Metatarsus adductus, Broad hallux phalanx, Ulnar deviation of finger, Hypoplasia of the radius, E... ORPHA:2249
Sandestig-Stefanova Syndrome
Laterally extended eyebrow, Camptodactyly, Highly arched eyebrow, Intrauterine growth retardation... OMIM:618804
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Wide nasal bridge, Neuronal loss in the cerebral cortex, Split hand, EEG with... ORPHA:168486
Chromosome 18Q Deletion Syndrome
Talipes equinovarus, Short stature, Proximal placement of thumb, Short palpebral fissure, Cerebel... OMIM:601808
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebellar atrophy, Short stature, Brachycephaly, Dysmetria, Hypomimic face, Hypoplasia of the co... ORPHA:320385
Tetrasomy X
Upslanted palpebral fissure, Epicanthus, Joint hyperflexibility, Hip dysplasia, Clinodactyly of t... ORPHA:9
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Aplasia/Hypoplasia ... ORPHA:3320
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Broad metatarsal, Micrognathia, Brachycephaly, Trigonocephaly, Broad phalanx, Prominent metopic r... OMIM:275595
Coloboma Of Macula-Brachydactyly Type B Syndrome
Short stature, Short distal phalanx of finger, Camptodactyly of finger, Broad thumb, Type B brach... ORPHA:1471
Thanatophoric Dysplasia
Abnormal ilium morphology, Intrauterine growth retardation, Cloverleaf skull, Abnormal sacroiliac... ORPHA:2655
Diastrophic Dysplasia
Micrognathia, Intrauterine growth retardation, Short finger, Abnormality of epiphysis morphology,... ORPHA:628
Acromelic Frontonasal Dysostosis
Polydactyly, Talipes equinovarus, Brachycephaly, Ptosis, Telecanthus, Wide nasal bridge, Downslan... OMIM:603671
Hadziselimovic Syndrome
Ventricular septal defect, Short stature, Ptosis, Failure to thrive, Ventricular hypertrophy, Epi... OMIM:612946
Cono-Spondylar Dysplasia
Short lower limbs, Failure to thrive, Short 4th toe, Epiphyseal dysplasia, Short humerus, Brachyd... ORPHA:420794
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Growth delay, Failure to thrive, Tetraplegia, Hypertonia, Cerebral atrophy, Agenes... OMIM:274270
Robinow Syndrome, Autosomal Recessive 2
Omphalocele, Bicuspid aortic valve, Relative macrocephaly, Micrognathia, Midface retrusion, Short... OMIM:618529
Teebi Hypertelorism Syndrome 1
Omphalocele, Ventricular septal defect, Highly arched eyebrow, Broad palm, Short stature, Ptosis,... OMIM:145420
Marshall-Smith Syndrome
Omphalocele, Overfolded helix, Short nose, Hearing impairment, Cerebral atrophy, Decreased body w... OMIM:602535
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Osteoporosis, Wormian bones, Frontal bossing, Microcephaly, Joint hyperflexibility... ORPHA:2787
Grant Syndrome
Abnormality of the glenoid fossa, Micrognathia, Bowing of the long bones, Abnormal cortical bone ... ORPHA:2097
Blepharophimosis-Impaired Intellectual Development Syndrome
Sparse eyelashes, Talipes equinovarus, Stereotypy, Thin corpus callosum, Plagiocephaly, Highly ar... OMIM:619293
Holt-Oram Syndrome
Pectus excavatum, Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the radius, Abnormal cla... ORPHA:392
Imagawa-Matsumoto Syndrome
Agenesis of corpus callosum, Mandibular prognathia, Large hands, Downslanted palpebral fissures, ... OMIM:618786
Chromosome 6Q24-Q25 Deletion Syndrome
Sparse eyelashes, Dysplastic tricuspid valve, Hooded eyelid, Short palpebral fissure, Medial flar... OMIM:612863
Kabuki Syndrome 2
Short stature, Hearing impairment, Postnatal growth retardation, Protruding ear, Decreased body w... OMIM:300867
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Irregular chondrocostal junctions, Hypoplastic iliac wing, Metaphyseal widening,... OMIM:187760
Spondyloepiphyseal Dysplasia, Nishimura Type
Micrognathia, Coxa valga, Wide proximal femoral metaphysis, Abnormal femoral neck/head morphology... ORPHA:163649
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
2-3 toe syndactyly, Short stature, Bilateral ptosis, Short nose, Syndactyly, Radioulnar synostosi... OMIM:614701
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Cerebellar atrophy, Short stature, Generalized joint laxity, Spastic dysarthria, C... ORPHA:280763
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Radial bowing, Cone-shaped epiphysis, Lun... OMIM:176240
Occipital Horn Syndrome
Pectus excavatum, Short clavicles, Capitate-hamate fusion, Pectus carinatum, Osteoporosis, Limite... OMIM:304150
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Ventricular septal defect, Intrauterine growth retardation, Short ... OMIM:609053
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Narrow palpebral fissure, Micrognathia, Intrauterine growth retardation, Growth delay, Short stat... OMIM:613604
Isolated Brachycephaly
Metacarpal synostosis, Brachycephaly, Hearing impairment, Midface retrusion, Brachydactyly ORPHA:35099
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Periventricular cysts, Failure to thrive, Abnormal corpus callosum morphology, Spastic diplegia, ... ORPHA:255182
Brachydactyly, Type A2, With Microcephaly
Absent middle phalanx of 2nd finger, Clinodactyly of the 2nd toe, Type A2 brachydactyly, Thumbs h... OMIM:211369
Brachydactyly, Type A1, C
Short middle phalanx of the 3rd finger, Short stature, Short middle phalanx of the 4th finger, Sh... OMIM:615072
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Short nose, Short ... OMIM:251450
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Large earlobe, Dandy-Walker malformation, Agenesis of corpus callosum, Short stature, Unusual der... ORPHA:262767
Multiple Epiphyseal Dysplasia Type 4
Flattened radial epiphyses, Upper limb undergrowth, Talipes equinovarus, Short metatarsal, Acromi... ORPHA:93307
Aymé-Gripp Syndrome
Short stature, Bilateral ptosis, Short nose, Postnatal growth retardation, Chiari type I malforma... ORPHA:1272
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Micromelia, Thoracic hypoplasia, Bowing ... OMIM:608728
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Babinski sign, Frequent falls, Dysmetria, Mild microcephaly, Intention tremor, Abnorm... ORPHA:453521
Cebalid Syndrome
Plagiocephaly, Highly arched eyebrow, Brachycephaly, Congenital diaphragmatic hernia, Platystence... OMIM:618774
2P15P16.1 Microdeletion Syndrome
Telecanthus, Hearing impairment, Toe clinodactyly, Camptodactyly of finger, Cerebellar hypoplasia... ORPHA:261349
Chromosome 14Q11-Q22 Deletion Syndrome
Plagiocephaly, Optic atrophy, Ventricular septal defect, Micrognathia, Growth delay, Failure to t... OMIM:613457
Rhizomelic Limb Shortening With Dysmorphic Features
Plagiocephaly, Micrognathia, Hyperextensibility of the finger joints, Rhizomelia, Clinodactyly of... OMIM:618821
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Plagiocephaly, Conductive hearing impairment, Optic atrophy, Tapered finger, Brachycephaly, Upsla... OMIM:618672
X-Linked Intellectual Disability, Sutherland-Haan Type
Small for gestational age, Brachycephaly, Mandibular prognathia, Upslanted palpebral fissure, Sho... ORPHA:93950
Kleefstra Syndrome Due To 9Q34 Microdeletion
Short nose, Subcortical cerebral atrophy, Hearing impairment, Aortic valve stenosis, Highly arche... ORPHA:96147
Familial Digital Arthropathy-Brachydactyly
Short middle phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... ORPHA:85169
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Pericardial effusion, Brachycephaly, Failure to thrive, Global brain atrophy,... OMIM:608776
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Sparse eyelashes, Talipes equinovarus, Short stature, Short nose, Postnatal growth retardation, S... OMIM:213980
Kleefstra Syndrome
Bicuspid aortic valve, Talipes equinovarus, Short stature, Chronic otitis media, Short nose, Dela... ORPHA:261494
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Radioulnar dislocation, Fibular hypoplasia, Ul... OMIM:164900
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Micrognathia, Prominent protruding coccyx, Chronic otitis media, Epicanthus, Downslanted palpebra... ORPHA:480907
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Brachyturricephaly, Broad palm, Marked muscular hypertrophy, Ventricular hypertrop... OMIM:300280
Zechi-Ceide Syndrome
Conductive hearing impairment, Narrow palpebral fissure, Abnormal earlobe morphology, Mandibular ... ORPHA:217017
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, 11 pairs of ribs, Absent knee epiphyses, Short humerus, Femoral bowing, Short fe... OMIM:210710
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Optic atrophy, Partial agenesis of the corpus callosum, Intrauterine growth retardation, Short st... OMIM:618346
Cleft Palate, Cardiac Defects, And Mental Retardation
Highly arched eyebrow, 2-3 toe syndactyly, Ventricular septal defect, Laterally extended eyebrow,... OMIM:600987
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Fibular bowing, Thin bony cortex, Deformed rib cage, Enlargement of the wrists, Bo... OMIM:600081
Craniosynostosis 6
Plagiocephaly, Dandy-Walker malformation, Cerebellar atrophy, Brachycephaly, Ptosis, Craniosynost... OMIM:616602
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Agenesis of corpus callosum, Short stature, Cerebral cortical atrophy, Tetraplegia, Spasticity, P... ORPHA:2508
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Babinski sign, Cerebellar atrophy, Brachycephaly, Restrictive cardiomyopathy, Osteoporosis, Short... OMIM:615398
Pseudoachondroplasia
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Fragmented, irregular epiphyses, Limi... OMIM:177170
Combined Oxidative Phosphorylation Deficiency 50
Partial agenesis of the corpus callosum, Intrauterine growth retardation, Short stature, Hip dysp... OMIM:619025
Arms, Malformation Of
Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis OMIM:107900
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Dysplastic corpus callosum, Short stature, Mild short stature, Optic nerve hy... OMIM:614833
Potocki-Lupski Syndrome
Micrognathia, Small for gestational age, Short stature, Trigonocephaly, Mandibular prognathia, Fa... OMIM:610883
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Bilateral ptosis, Slender finger, Cerebellar hypoplasia, Protruding ear, U... ORPHA:329224
Wolf-Hirschhorn Syndrome
Talipes equinovarus, Chronic otitis media, Hearing impairment, Aplasia/Hypoplasia of the cerebell... ORPHA:280
Beck-Fahrner Syndrome
Ventricular septal defect, Brachycephaly, Ptosis, Lacrimal duct stenosis, Cardiomegaly, Facial hy... OMIM:618798
Intellectual Developmental Disorder, Autosomal Dominant 65
Clumsiness, Narrow palpebral fissure, Micrognathia, Dysgenesis of the hippocampus, Thin eyebrow, ... OMIM:619320
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormality of the ulna, Abnormality of the humerus, Aplasia/Hypoplasia of the radius, Synostosis... ORPHA:1275
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Brachycephaly, Wide nasal bridge, Hearing impairment, Dysplastic pulmonary valve, Spasticity, Dec... OMIM:300958
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Synophrys, Short nose, ... ORPHA:401935
Martsolf Syndrome 1
Slender ulna, Talipes equinovarus, Short stature, Short toe, Hypoplasia of the maxilla, Short pha... OMIM:212720
Acrodysostosis
Abnormality of the ulna, Short stature, Epiphyseal stippling, Short metatarsal, Short nose, Hypop... ORPHA:950
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Dandy-Walker malformation, Brachycephaly, Delayed closure of the anterior fontanell... OMIM:618736
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Monkey wrench femoral neck, 2-3 toe syndactyly, Short stature, Limited elbow extension, Microretr... OMIM:618870
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Enlarged metacarpal epiphyses, Broad toe, Mesomelic arm shortening, Cuppe... OMIM:609616
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
2-3 toe syndactyly, Micrognathia, Opisthotonus, Double outlet right ventricle, Recurrent otitis m... ORPHA:3304
Melnick-Needles Syndrome
Micrognathia, Tibial bowing, Short clavicles, Pectus excavatum, Talipes equinovarus, Hypoplastic ... OMIM:309350
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Intrauterine growth retardation, Short stature, Brachycephaly, Craniosynostosis, Sh... ORPHA:2145
Thiemann Disease, Familial Form
Abnormality of epiphysis morphology, Brachydactyly, Abnormality of the metaphysis, Limitation of ... ORPHA:3314
Mosaic Variegated Aneuploidy Syndrome 2
Round ear, Short stature, Short nose, Hearing impairment, Subvalvular aortic stenosis, Short palp... OMIM:614114
Alopecia-Intellectual Disability Syndrome
Growth delay, Short stature, Macrotia, Hearing impairment, Split hand, Microcephaly, Short corpus... ORPHA:2850
15Q24 Microdeletion Syndrome
Short stature, Proximal placement of thumb, Hearing impairment, Postnatal growth retardation, Con... ORPHA:94065
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Optic atrophy, Chiari malformation, Brachycephaly, Ptosis, Abnorma... ORPHA:93262
Filippi Syndrome
Enlarged epiphyses, Optic atrophy, Ventricular septal defect, Intrauterine growth retardation, Gr... ORPHA:3255
Cog7-Cdg
Micrognathia, Cerebellar atrophy, Adducted thumb, Small for gestational age, Failure to thrive, A... ORPHA:79333
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Short stature, Brachycephaly, Dysmetria, Spastic gait, Hypomimic face, Hypoplasia of the corpus c... OMIM:615031
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Talipes equinovarus, Small for gestational age, Long fingers, Hearing impa... OMIM:613355
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short stature, Short nose, Prominent calcaneus, Cubitus valgus, Toe clinodactyly, Limited elbow e... ORPHA:457395
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Short stature, Polymicrogyria, Relative macrocephaly, Gait ataxia, Delayed puberty, Macroglossia,... OMIM:300354
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Short stature, Brachycephaly, Telecanthus, Sensorineural hea... OMIM:109120
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Metaphyseal dysplasia, Genu varum, Irregular chondrocostal junctions, Metaphyseal irregularity, S... OMIM:250420
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hand polydactyly, Short humerus, Proximal placement of thumb, Absent radius OMIM:314390
Contractural Arachnodactyly, Congenital
Distal arthrogryposis, Crumpled ear, Bicuspid aortic valve, Hip contracture, Talipes equinovarus,... OMIM:121050
Tetralogy Of Fallot
Intrauterine growth retardation, Clinodactyly of the 5th finger, Tetralogy of Fallot, Dolichoceph... ORPHA:3303
Robinow Syndrome, Autosomal Dominant 2
Conductive hearing impairment, Micrognathia, Thickened calvaria, Midface retrusion, Short stature... OMIM:616331
Autosomal Recessive Cutis Laxa Type 2A
Hearing impairment, Postnatal growth retardation, Cerebellar malformation, Delayed cranial suture... ORPHA:357058
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Atelosteogenesis Type Iii
Fibular aplasia, Thoracic hypoplasia, Micrognathia, Club-shaped distal femur, Distal tapering fem... ORPHA:56305
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly ORPHA:171703
Alg9-Cdg
Omphalocele, Broad ischia, Talipes equinovarus, Torticollis, Large fleshy ears, Short nose, Telec... ORPHA:79328
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Thin ribs, Hypoplastic iliac wing, Metaphyseal cupping of metaca... OMIM:300863
Tonne-Kalscheuer Syndrome
Micrognathia, Growth delay, Short stature, Congenital diaphragmatic hernia, Abnormal heart morpho... OMIM:300978
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Ventricular septal defect, Highly arched eyebrow, Micrognathia, Sparse lateral ey... ORPHA:261120
Acro-Renal-Ocular Syndrome
Short hallux, Broad hallux phalanx, Toe syndactyly, Triphalangeal thumb, Radial club hand, Verteb... ORPHA:959
Nabais Sa-De Vries Syndrome, Type 1
Highly arched eyebrow, Narrow palpebral fissure, Brachycephaly, Optic nerve hypoplasia, Short nos... OMIM:618828
Mandibulofacial Dysostosis-Microcephaly Syndrome
Large earlobe, Conductive hearing impairment, Micrognathia, Morphological abnormality of the midd... ORPHA:79113
Spinocerebellar Ataxia, Autosomal Recessive 20
Babinski sign, Relative macrocephaly, Cerebellar atrophy, Talipes equinovarus, Macroglossia, Epic... OMIM:616354
Microcephaly, Short Stature, And Limb Abnormalities
Intrauterine growth retardation, Patellar aplasia, Dislocated radial head, Hypoplasia of the radi... OMIM:617604
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hallux valgus, Bicuspid aortic valve, Talipes equinovarus, Short stature, Spatulate thumbs, Broad... OMIM:245600
Stevenson-Carey Syndrome
Brachycephaly, Posteriorly rotated ears, Joint contracture of the hand, Downslanted palpebral fis... OMIM:611961
16P12.1P12.3 Triplication Syndrome
Large earlobe, Hallux valgus, 2-3 toe syndactyly, Intrauterine growth retardation, Tapered finger... ORPHA:485405
Cleidorhizomelic Syndrome
Diaphyseal thickening, Rhizomelia, Short middle phalanx of the 5th finger, Bilateral single trans... ORPHA:1453
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Short nose, Stereotypy, Plagiocephaly, Ventricular septal defect, Congenit... ORPHA:457279
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Cerebellar hemisphere hypoplasia, Proximal placement o... ORPHA:456312
Cooper-Jabs Syndrome
Conductive hearing impairment, Ventricular septal defect, Short stature, Brachycephaly, Congenita... ORPHA:1488
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Limb hypertonia, Global brain atrophy, Overfolded helix, Hearing impairment, Broad hallux, Hypopl... ORPHA:481152
Congenital Muscular Dystrophy With Cerebellar Involvement
Cerebellar cyst, Skeletal muscle hypertrophy, Reduced muscle fiber alpha dystroglycan, Polymicrog... ORPHA:370959
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Brachycephaly, Bilateral ptosis, Downslanted palpebral fissures, Spasticity, Recurrent hand flapp... OMIM:618859
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Short stature, Failure to thrive, Upslanted palpebral fissure, Recurrent otitis media, Epicanthus... OMIM:615286
Cleidocranial Dysplasia
Sinusitis, Carious teeth, Short stature, Chronic otitis media, Abnormal dental enamel morphology,... ORPHA:1452
Chromosome 15Q13.3 Deletion Syndrome
Abnormality of the palpebral fissures, Abnormality of the pinna, Clinodactyly of the 5th finger, ... OMIM:612001
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Plagiocephaly, Optic atrophy, Flat occiput, Hypertrophic cardiomyopathy, Upslanted palpebral fiss... OMIM:619383
Apert Syndrome
Cutaneous finger syndactyly, Brachyturricephaly, Chronic otitis media, Delayed eruption of teeth,... OMIM:101200
11Q22.2Q22.3 Microdeletion Syndrome
Micrognathia, Ptosis, Small hand, Posteriorly rotated ears, Epicanthus, Short foot, Bilateral sin... ORPHA:444002
Distal Trisomy 5Q
Dextrocardia, Carious teeth, Eczema, Ventricular septal defect, Micrognathia, Short stature, Cran... ORPHA:96097
Acromicric Dysplasia
Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Abnormality of epiphysis morp... ORPHA:969
Spastic Paraplegia 11, Autosomal Recessive
Babinski sign, Degeneration of the lateral corticospinal tracts, Knee clonus, Skeletal muscle atr... OMIM:604360
Noonan Syndrome 13
Cubitus valgus, Limited elbow extension, Plagiocephaly, Highly arched eyebrow, Micrognathia, Epic... OMIM:619087
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, 2-3 toe syndactyly, Finger syndactyly, Cerebral atrophy, Ventricular sep... ORPHA:464738
Chromosome 16Q22 Deletion Syndrome
Short palpebral fissure, Postnatal growth retardation, Broad hallux, Highly arched eyebrow, Micro... OMIM:614541
Menkes Disease
Intrauterine growth retardation, Short stature, Brachycephaly, Metaphyseal widening, Joint laxity... OMIM:309400
Coffin-Siris Syndrome 10
Ventricular septal defect, Epicanthus, Posteriorly rotated ears, Spastic tetraparesis, Persistenc... OMIM:618506
Mandibulofacial Dysostosis, Guion-Almeida Type
Conductive hearing impairment, Ventricular septal defect, Micrognathia, Midface retrusion, Short ... OMIM:610536
Waardenburg Syndrome Type 3
Cutaneous finger syndactyly, Spastic paraplegia, Abnormality of the upper limb, Telecanthus, Syno... ORPHA:896
Baraitser-Winter Syndrome 2
Highly arched eyebrow, Short stature, Ptosis, Trigonocephaly, Telecanthus, Abnormality of the pin... OMIM:614583
2Q32Q33 Microdeletion Syndrome
Broad hallux phalanx, Micrognathia, Growth delay, Talipes equinovarus, Brachycephaly, Short statu... ORPHA:251019
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Micrognathia, Short palpebral fissure, Tetralogy of Fallot, Blepharoph... OMIM:601348
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Short stature, Epicanthus, Wide nasal bridge, Downslanted palpebral fissure... ORPHA:261295
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal rib morphology, Abnormality of the metaphysis, Mesomelic/rhizomelic limb s... ORPHA:1354
Coffin-Siris Syndrome
Prominent eyelashes, Short nose, Delayed eruption of teeth, Hearing impairment, Postnatal growth ... ORPHA:1465
Peroxisomal Acyl-Coa Oxidase Deficiency
Babinski sign, Optic atrophy, Brachycephaly, Wide nasal bridge, Frontal bossing, Hypertonia, Bila... OMIM:264470
Trichothiodystrophy
Carious teeth, Eczema, Diffuse cerebellar atrophy, Increased bone mineral density, Abnormal pyram... ORPHA:33364
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ventricular septal defect, Micrognathia, Long nose, Arachnodactyly, Frontal bossing, Atrial septa... OMIM:309520
Leigh Syndrome
Eczema, Neuronal loss in basal ganglia, Focal T2 hyperintense basal ganglia lesion, Encephalomala... ORPHA:506
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Bicuspid aortic valve, Pterygium, Sclerotic cranial sutures, Abnormal hand morpholog... ORPHA:371428
Brachydactyly, Type A3
Cone-shaped epiphysis, Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phal... OMIM:112700
Polymicrogyria Due To Tubb2B Mutation
Oromotor apraxia, Perisylvian polymicrogyria, Cerebellar atrophy, Schizencephaly, Hypoplasia of t... ORPHA:300573
Laurence-Moon Syndrome
Short stature, Abnormal antitragus morphology, Brachycephaly, Low-set, posteriorly rotated ears, ... ORPHA:2377
White-Sutton Syndrome
Optic atrophy, Short stature, Brachycephaly, Mandibular prognathia, Abnormal heart morphology, Fa... OMIM:616364
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Short stature, Brachycephaly, Slender build, Myoclonus, Macrocephaly OMIM:300699
Acromesomelic Dysplasia 1
Broad metatarsal, Broad metacarpals, Lower thoracic kyphosis, Radial bowing, Broad finger, Short ... OMIM:602875
Mental Retardation, Autosomal Recessive 41
Mandibular prognathia, Downslanted palpebral fissures, Stereotypy, Frontal bossing, Scaphocephaly... OMIM:615637
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Babinski sign, Highly arched eyebrow, Skeletal muscle atrophy, Short stature, Failure to thrive, ... OMIM:615802
Ritscher-Schinzel Syndrome 4
Dysgenesis of the hippocampus, Short stature, Stereotypy, Cerebellar hypoplasia, Plagiocephaly, P... OMIM:619435
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Triphalangeal thumb, Pectoralis hypoplasia, Hypoplasia of the radius... OMIM:607323
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Metaphyseal dysplasia, Abnormality of femur morphology, Abnormality ... ORPHA:1842
Brachydactyly, Type B1
Cutaneous finger syndactyly, Ventricular septal defect, Short middle phalanx of finger, Delayed e... OMIM:113000
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Micrognathia, Mitral valve prolapse, Almond-shaped palpebral fissure, Short stature, Failure to t... OMIM:300986
Peroxisome Biogenesis Disorder 12A (Zellweger)
Growth delay, Cranial asymmetry, Delayed closure of the anterior fontanelle, Short stature, Doubl... OMIM:614886
Kleefstra Syndrome 1
Conotruncal defect, Single transverse palmar crease, Tracheobronchomalacia, Talipes equinovarus, ... OMIM:610253
Thalidomide Embryopathy
Aplasia/hypoplasia of the humerus, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of t... ORPHA:3312
Baller-Gerold Syndrome
Micrognathia, Aplasia of metacarpal bones, Rib fusion, Limited shoulder movement, Lambdoidal cran... OMIM:218600
Lissencephaly 7 With Cerebellar Hypoplasia
Micrognathia, Hand clenching, Arthrogryposis multiplex congenita, Agyria, Cerebellar hypoplasia, ... OMIM:616342
Loeys-Dietz Syndrome 5
Talipes equinovarus, Short stature, Overfolded helix, Bilateral coxa valga, Ventricular septal de... OMIM:615582
Ophthalmomandibulomelic Dysplasia
Abnormality of bone mineral density, Aplasia/Hypoplasia of the radius, Symphalangism affecting th... ORPHA:2741
Frank-Ter Haar Syndrome
Protruding ear, Mitral valve prolapse, Mandibular prognathia, Acne, Wide nasal bridge, Inguinal h... ORPHA:137834
Emanuel Syndrome
Ventricular septal defect, Micrognathia, Intrauterine growth retardation, Truncus arteriosus, Con... OMIM:609029
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Intrauterine growth retardation, Right ventricular hypertrophy, Epicanthus, Posteriorly rotated e... OMIM:613623
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Short stature, Postaxial polydactyly, Short metatarsal, Limb undergrowth, Telecant... OMIM:617102
Lessel-Kreienkamp Syndrome
Plagiocephaly, Bicuspid aortic valve, Upslanted palpebral fissure, Overfolded helix, Epicanthus, ... OMIM:619149
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dysmetria, Myoclonus, Epicanthus, Ataxia, Tetralogy of Fallot, Agenesis of corpus callosum OMIM:250620
Metaphyseal Acroscyphodysplasia
Abnormal diaphysis morphology, Genu varum, Abnormality of femur morphology, Cone-shaped epiphysis... ORPHA:1240
Cranioectodermal Dysplasia 1
Pectus excavatum, Triphalangeal hallux, Rhizomelia, Broad toe, Fibular hypoplasia, Short ribs, Cl... OMIM:218330
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Short stature, Short nose, Hypoplasia of the radius, Cerebellar hypoplasia, Cerebral atrophy, Hyp... OMIM:602613
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Dandy-Walker malformation, Ventricular septal defect, Intrauterine g... OMIM:612938
Band Heterotopia
Subcortical band heterotopia, Macrocephaly, Polymicrogyria, Spasticity, Agenesis of corpus callosum OMIM:600348
Kaufman Oculocerebrofacial Syndrome
Carious teeth, Short stature, Short nose, Telecanthus, Sparse and thin eyebrow, Ventricular septa... OMIM:244450
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Talipes equinovar... OMIM:601382
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Micrognathia, Tibial bowing, Intrauterine growth retardation, Radial bowing, Lower limb undergrow... ORPHA:3035
20P13 Microdeletion Syndrome
Highly arched eyebrow, Narrow palpebral fissure, Failure to thrive in infancy, Polydactyly, Synop... ORPHA:313781
Baker-Gordon Syndrome
Involuntary movements, Choreoathetosis, Short nose, Epicanthus, Stereotypy, Ataxia, Hyperkinetic ... OMIM:618218
Hypophosphatasia
Failure to thrive in infancy, Bowing of the long bones, Craniosynostosis, Abnormality of the meta... ORPHA:436
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Short stature, Brachycephaly, Limb undergrowth, Thin calvarium, Brachydactyly, Massively thickene... OMIM:122900
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Flattened femoral head, Arthralgia of the hip, Hip contracture, Hip osteoarthritis, Dysplasia of ... ORPHA:99642
Chopra-Amiel-Gordon Syndrome
Almond-shaped palpebral fissure, Short stature, Brachycephaly, Upslanted palpebral fissure, Joint... OMIM:619504
Hamamy Syndrome
Micrognathia, Tapered finger, Brachycephaly, Long fingers, Sparse lateral eyebrow, Craniosynostos... OMIM:611174
Codas Syndrome
Crumpled ear, Ventricular septal defect, Short stature, Ptosis, Abnormality of epiphysis morpholo... ORPHA:1458
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Stereotypy, Decreased body weight, Epicanthus, Microcephaly, Progressive spasticity, Rigidity, Br... OMIM:300260
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse eyelashes, Short stature, Fifth finger distal phalanx clinodactyly, Abnormal dental enamel... OMIM:257850
Spinal Muscular Atrophy, Type I
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Ventricular septal defect, Atrial s... OMIM:253300
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Short ribs, H... OMIM:617895
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Rocker bottom foot, Brachycephaly, Ptosis, Weakness of facial musculature, Achil... OMIM:301041
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, 2-3 toe syndactyly, Truncus arteriosus, Short stature, Abnormality of the ... ORPHA:508498
Mental Retardation, Autosomal Dominant 48
Highly arched eyebrow, Eczema, Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Dilated... OMIM:617751
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Short greater sciatic notch, Flared femoral metaphysis, Anterior rib cuppi... OMIM:184253
Osteogenesis Imperfecta, Type Ii
Thoracic hypoplasia, Tibial bowing, Broad long bones, Thin ribs, Small for gestational age, Limb ... OMIM:166210
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, 2-3 toe syndactyly, Ventricular septal defect, Micrognathia, Postaxial pol... ORPHA:404440
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Short stature, Prominent eyelashes, Trigonocephaly, Upslanted palpebr... OMIM:619179
Distal Monosomy 3P
Micrognathia, Intrauterine growth retardation, Short stature, Brachycephaly, Atrioventricular can... ORPHA:1620
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Intrauterine growth retardation, Agenesis of corpus callosu... ORPHA:250989
Acrodysostosis 1 With Or Without Hormone Resistance
Short stature, Epiphyseal stippling, Short metatarsal, Delayed eruption of teeth, Hearing impairm... OMIM:101800
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Thin ribs, Limb undergrowth, Short ribs, Narrow chest, Hypoplastic ischia, H... OMIM:151210
20Q11.2 Microduplication Syndrome
Short nose, Limited elbow extension, Palpebral edema, Severe intrauterine growth retardation, Tri... ORPHA:363659
Crouzon Disease
Conductive hearing impairment, Optic atrophy, Chiari malformation, Brachycephaly, Ptosis, Hearing... ORPHA:207
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Optic atrophy, Ventricular septal defect, Inflammation of the large i... OMIM:614576
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Dandy-Walker malformation, Micrognathia, Agenesis of corpus callosum, Long fingers,... ORPHA:96092
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Short stature... ORPHA:2515
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hip contracture, Short stature, Delayed eruption of teeth, Protrusio acetabuli, Hypoplasia of the... OMIM:259600
X-Linked Intellectual Disability Due To Gria3 Mutations
Macrodontia of permanent maxillary central incisor, Babinski sign, Short stature, Brachycephaly, ... ORPHA:364028
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Intrauterine growth retardation, Downslanted palpebral fissures, Truncal obesity, Coxa vara, Apla... ORPHA:2637
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Talipes equinovarus, Short stature, Short nose, Downslanted palpebral ... ORPHA:261236
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Stereotypy, Ataxia, Macrocephaly, Cortical dysplasia, Microc... OMIM:618709
C Syndrome
Omphalocele, Short stature, Short nose, Fused sternal ossification centers, Toe syndactyly, Ventr... OMIM:211750
Pycnodysostosis
Carious teeth, Micrognathia, Delayed eruption of permanent teeth, Short stature, Wormian bones, O... OMIM:265800
7Q11.23 Microduplication Syndrome
Short stature, Chronic otitis media, Overfolded helix, Abnormality of the optic disc, Cubitus val... ORPHA:96121
Congenital Rubella Syndrome
Ventricular septal defect, Intrauterine growth retardation, Short stature, Abnormality of the met... ORPHA:290
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of pelvic girdle bone morphology, Abnormal rib morphology, Intrauterine growth retard... ORPHA:1506
Warburg Micro Syndrome 2
Optic atrophy, Asymmetry of the ears, Brachycephaly, Global brain atrophy, Short nose, Macrotia, ... OMIM:614225
Raine Syndrome
Brachyturricephaly, Short stature, Neonatal death, Short nose, Long hallux, Increased bone minera... OMIM:259775
Orofaciodigital Syndrome I
Carious teeth, Short stature, Telecanthus, Hearing impairment, Syndactyly, Microretrognathia, Abn... OMIM:311200
Craniofacial Dyssynostosis With Short Stature
Brachyturricephaly, Ventricular septal defect, Abnormal shape of the occiput, Short stature, Brac... OMIM:218350
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Hypsarrhythmia, Stereotypy, Spastic diplegia, Secondary microcephaly OMIM:617830
Coffin-Lowry Syndrome
Short stature, Delayed eruption of teeth, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasi... ORPHA:192
Sugarman Brachydactyly
Double first metacarpals, Proximal placement of hallux, Short proximal phalanx of finger, Symphal... OMIM:272150
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Ventricular septal defect, Micrognathia, Intrauterine growth retardation, Short st... ORPHA:166035
Mend Syndrome
Dandy-Walker malformation, 2-3 toe syndactyly, Abnormal auditory evoked potentials, Limb hyperton... ORPHA:401973
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion, Broad finger, Upslanted palpebral fissure, Overfolded helix, Small hand, Wi... OMIM:614684
Femoral-Facial Syndrome