Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Rhizomelia, Failure to thrive, Short femur, Epiphyseal stippling |
OMIM:600121 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormality of the elbow, Micromelia, Humeroradial synostosis, ... |
ORPHA:2019 |
Acromesomelic Dysplasia 2A |
|
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Acromesomelia, A... |
OMIM:200700 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Hip dysplasia, Rhizomelia, Wide distal femoral metaphysis, Short femur, Short femo... |
OMIM:619598 |
Acrocapitofemoral Dysplasia |
|
Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ... |
OMIM:607778 |
Angioosteohypotrophic Syndrome |
|
Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Hypertrophy of the upper li... |
ORPHA:75508 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Rhizomelia, Short metatarsal, Short metacarpal, Deformed humeral heads, Coxa vara,... |
OMIM:601438 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormality of femur morphology, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormal sc... |
ORPHA:2141 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Short humerus, Asymmetric radial dysplasia, Absent radius, Genu varum, Phocomelia, Anterior verte... |
OMIM:171480 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Metaphyseal cupping, Irregular capital femoral epiphysis, Short femoral neck, Meta... |
OMIM:616716 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... |
ORPHA:3268 |
Brachydactyly, Type C |
|
Ulnar deviation of the 3rd finger, Enlarged epiphysis of the proximal phalanx of the 2nd finger, ... |
OMIM:113100 |
Holt-Oram Syndrome |
|
Aplasia of the ulna, Limited elbow extension, Short humerus, Small thenar eminence, Pectus excava... |
OMIM:142900 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Protruding ear, Atrial septal defect, Ventricular septal defect, Hearing impairment, Broad thumb,... |
OMIM:617452 |
Cornelia De Lange Syndrome 2 |
|
Long eyelashes, Brachycephaly, Proximal placement of thumb, Synophrys, Downslanted palpebral fiss... |
OMIM:300590 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Epicanthus, Trigonocephaly, Atrioventricular canal defect, EEG abnormality, Upslanted palpebral f... |
OMIM:613792 |
Kyphomelic Dysplasia |
|
Short humerus, Dumbbell-shaped humerus, Thoracic hypoplasia, Lateral clavicle hook, Flat acetabul... |
OMIM:211350 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Enlargement of the costochondral junction, Narrow greater sciatic notch, Metaphyseal sclerosis, M... |
OMIM:609052 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Epicanthus, Atrial septal defect, Narrow palm, Upslanted palpebral fissure, Abno... |
ORPHA:352490 |
Greig Cephalopolysyndactyly Syndrome |
|
Macrocephaly, Inguinal hernia, Trigonocephaly, 1-3 toe syndactyly, Abnormal heart morphology, Pre... |
OMIM:175700 |
Multiple Synostoses Syndrome 1 |
|
Lower limb undergrowth, Absent distal phalanges, Carpal synostosis, Short hallux, Single transver... |
OMIM:186500 |
Al Kaissi Syndrome |
|
Epicanthus, Atrial septal defect, Microcephaly, Hypoplasia of the corpus callosum, Torticollis, B... |
OMIM:617694 |
Catel-Manzke Syndrome |
|
Chronic otitis media, Camptodactyly of finger, Low-set, posteriorly rotated ears, Joint stiffness... |
ORPHA:1388 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hearing impairment, Toe syndactyly, Broad thumb,... |
ORPHA:505237 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Deviation of finger, Short humerus, Rhizomelia, Short metacarpal, Deformed humeral heads, Brachyd... |
ORPHA:2831 |
Acheiropodia |
|
Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A... |
ORPHA:931 |
Acheiropody |
|
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... |
OMIM:200500 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Small for gestational age, Inguinal hernia, Low-set ears, Brachycephaly, Epicanthus, Umbilical he... |
OMIM:615834 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Primary microcephaly, Decreased body weight, Simplified gyral pattern, Knee flexion contracture, ... |
OMIM:616681 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormal calvaria morphology, 4-layered lissencephaly, Primary microcephaly, Low-set ears, Atrial... |
ORPHA:89844 |
Gombo Syndrome |
|
Delayed puberty, Abnormal heart morphology, Microcephaly, Radial deviation of finger, Clinodactyl... |
OMIM:233270 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... |
ORPHA:174 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Low-set ears, Intrauterine growth retardation, Rocker bottom foot, Microcephaly, Cerebellar hypop... |
OMIM:616570 |
Kyphomelic Dysplasia |
|
Abnormal metaphysis morphology, Joint stiffness, Lateral clavicle hook, Short thorax, Missing rib... |
ORPHA:1801 |
Aminopterin Syndrome Sine Aminopterin |
|
Macrocephaly, Inguinal hernia, Short thumb, Highly arched eyebrow, Microcephaly, Joint contractur... |
OMIM:600325 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Abnormality of the wrist, Abnormality of the elbow, Micromelia, Postaxial hand pol... |
ORPHA:2491 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect, EEG with generalized sharp slow waves, Microcephaly, Single transverse... |
ORPHA:79243 |
Corpus Callosum, Agenesis Of |
|
Macrocephaly, Camptodactyly, Microcephaly, Growth delay, Frontal bossing, Agenesis of corpus call... |
OMIM:217990 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Low-set ears, Retrognathia, Brachycephaly, Bilateral talipes equinovarus, Ventricular septal defe... |
OMIM:618142 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Short humerus, Hip dislocation, Rhizomelia, Dislocated radial head, Hypoplastic scapulae, Flared ... |
OMIM:602471 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Macrocephaly, Cerebral atrophy, Spindle-shaped finger, Short stature, Cutaneous syndactyly, Delay... |
ORPHA:166024 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Macrocephaly, Hypoplastic left heart, Atrial septal defect, Hearing impairment, Broad thumb, Doli... |
OMIM:619721 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Cloverleaf skull, Low-set ears, Platybasia, Abnormal metaphysis morphology, Ventricular septal de... |
ORPHA:93267 |
Pierpont Syndrome |
|
Hearing impairment, Short toe, Microcephaly, Unilateral narrow palpebral fissure, Blepharophimosi... |
OMIM:602342 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Small for gestational age, Low-set ears, Intrauterine growth retardation, Short stature, Failure ... |
OMIM:612626 |
Atelosteogenesis, Type I |
|
Clubbing, Long clavicles, Rhizomelia, Short metatarsal, Multinucleated giant chondrocytes in epip... |
OMIM:108720 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Hip dysplasia, Ventricular septal defect, Upslanted palpebral fissure, Short palpebral fissure, B... |
OMIM:620073 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Congenital fibrosis of extraocular muscles, Polymicrogyria, Partial agenesis of the corpus callos... |
OMIM:610031 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal metaphysis morphology, Short metatarsal, Osteoporosis, Short metacarpal, Synostosis of c... |
ORPHA:93351 |
Carpenter Syndrome 1 |
|
Epicanthus, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Preaxial foot p... |
OMIM:201000 |
Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Intrauterine growth retardation, Short statur... |
ORPHA:1937 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Flat occiput, Simplified gyral pattern, Short stature, Hearing impairment, Highly arched eyebrow,... |
OMIM:608716 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
Fetal Trimethadione Syndrome |
|
Low-set ears, Epicanthus, Brachycephaly, Ventricular septal defect, Tetralogy of Fallot, Atrial s... |
ORPHA:1913 |
Metatropic Dysplasia |
|
Relatively short spine, Flared iliac wing, Halberd-shaped pelvis, Metaphyseal irregularity, Hyper... |
OMIM:156530 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Inguinal hernia, Epicanthus, Atrial septal defect, Trigonocephaly, Sparse eyebrow, Scaphocephaly,... |
ORPHA:459061 |
Warburg Micro Syndrome 1 |
|
Low-set ears, Cerebral atrophy, Overlapping toe, Osteoporosis, Perisylvian polymicrogyria, Short ... |
OMIM:600118 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Brachycephaly, Tetralogy of Fallot, Ventricular se... |
ORPHA:3306 |
Pierpont Syndrome |
|
Short finger, Abnormal cortical gyration, Small for gestational age, Uplifted earlobe, Primary mi... |
ORPHA:487825 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Short humerus, Asymmetric radial dysplasia, Radial club hand, Ectrodactyly, Abnormality of the wr... |
ORPHA:2878 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Atopic dermatitis, Severe short stature, Brachycephaly, Atrial septal defec... |
OMIM:616854 |
6Q25 Microdeletion Syndrome |
|
Plagiocephaly, Camptodactyly of finger, Low-set, posteriorly rotated ears, Epicanthus, Abnormal p... |
ORPHA:251056 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Abnormality of dental eruption, Camptodactyly of finger, Short distal phalanx of finger, Epicanth... |
ORPHA:1327 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Reduced bone mineral density, Low-set, posteriorly rotated ears, Hip dysplasia, Abnormal metaphys... |
ORPHA:2370 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Long fingers, Brachycephaly, Facial diplegia, Short nose, Decreased motor nerve conduction veloci... |
OMIM:218000 |
Recombinant Chromosome 8 Syndrome |
|
Camptodactyly, Low-set ears, Cerebral atrophy, Pulmonic stenosis, Ventricular septal defect, Tetr... |
OMIM:179613 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Epicanthus, Ventricular septal defect, EEG abnormality, Abnormality of the hand, Abnormal heart m... |
ORPHA:369891 |
Heart-Hand Syndrome Type 2 |
|
Abnormality of the humerus, Hand polydactyly, Joint stiffness, Hemiatrophy, Aplasia/Hypoplasia of... |
ORPHA:1350 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Macrocephaly, Ventricular septal defect, Highly arched eyebrow, Microcephaly, Cerebellar hypoplas... |
OMIM:617751 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Tetralogy of Fallot, Atrial septal defect, Short nose, Posteriorly rotated ears, Optic disc pallo... |
OMIM:300887 |
Craniofrontonasal Dysplasia |
|
Craniosynostosis, Plagiocephaly, Camptodactyly of finger, Congenital pseudoarthrosis of the clavi... |
ORPHA:1520 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Telecanthus, Camptodactyly, Inguinal hernia, Cerebral atrophy, Brachycephaly, Protruding ear, Bil... |
OMIM:615539 |
Greig Cephalopolysyndactyly Syndrome |
|
Craniosynostosis, Macrocephaly, Postaxial foot polydactyly, Broad hallux phalanx, Umbilical herni... |
ORPHA:380 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Short toe, Microcephaly, Single transver... |
OMIM:616651 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Multiple prenatal fractures, Microcephaly, Cerebellar hypoplasia, Hype... |
OMIM:616897 |
Metaphyseal Anadysplasia |
|
Abnormal metaphysis morphology, Joint stiffness, Bowing of the long bones, Abnormal epiphysis mor... |
ORPHA:1040 |
Ventriculomegaly And Arthrogryposis |
|
Ulnar deviation of the wrist, Cerebellar hypoplasia, Micrognathia, Hand clenching, Arthrogryposis... |
OMIM:619501 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Epicanthus, Brachycephaly, Abnormal pinna morphology, Synophrys, Tapered finger, Clinodactyly of ... |
ORPHA:352530 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Abnorma... |
ORPHA:2790 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Macrocephaly, Abnormal size of the palpebral fissures, Ventricular septal defect, Abnormal heart ... |
ORPHA:500159 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hippocampal atrophy, Delayed proximal femoral epiphyseal ossificati... |
ORPHA:353298 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Macrocephaly, Finger symphalangism, Symphalangism affecting the phalanges of the toes, Symphalang... |
ORPHA:3246 |
Congenital Myopathy 13 |
|
Low-set ears, Conductive hearing impairment, Brachycephaly, Bilateral talipes equinovarus, Downsl... |
OMIM:255995 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Rhizomelia, Osteopenia, Failure to thrive, Epiphyseal stippling, Micrognathia, Fle... |
OMIM:222765 |
Non-Distal Duplication 10Q |
|
Low-set, posteriorly rotated ears, Brachycephaly, Short nose, Downslanted palpebral fissures, Sho... |
ORPHA:1695 |
Frontonasal Dysplasia 1 |
|
Camptodactyly, Pericallosal lipoma, Conductive hearing impairment, Low-set ears, Epicanthus, Tetr... |
OMIM:136760 |
Lissencephaly 4 |
|
Colpocephaly, Primary microcephaly, Simplified gyral pattern, Short stature, Growth delay, Cerebe... |
OMIM:614019 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Reduced bone mineral density, Thin corpus callosum, Brachycephaly, Microcephaly, Hip subluxation,... |
OMIM:620200 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Low-set ears, Narrow greater sciatic notch, Retrognathia, Brachycephaly, Epicanthus, Metaphyseal ... |
OMIM:263210 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Type II lissencephaly, Camptodactyly of finger, Plagiocephaly, Brachycephaly, Myopathy, Muscular ... |
ORPHA:272 |
Baraitser-Winter Syndrome 1 |
|
Epicanthus, Trigonocephaly, Highly arched eyebrow, Microcephaly, Lissencephaly, Overfolded helix,... |
OMIM:243310 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Short humerus, Increased bone mineral density, Lateral femoral bowing, Osteoporosis, Ankylosis, O... |
OMIM:239000 |
8Q12 Microduplication Syndrome |
|
Telecanthus, Abnormal cranial nerve morphology, Epicanthus, Brachycephaly, Atrial septal defect, ... |
ORPHA:228399 |
Muenke Syndrome |
|
Macrocephaly, Hearing impairment, Broad thumb, Cone-shaped epiphyses of the phalanges of the hand... |
OMIM:602849 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Plagiocephaly, Low-set ears, Epicanthus, Cerebral atrophy, Global brain atrophy, Brachycephaly, F... |
OMIM:616801 |
Arthrogryposis, Distal, Type 2A |
|
Inguinal hernia, Hip dislocation, Epicanthus, Flexion contracture of finger, Rocker bottom foot, ... |
OMIM:193700 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Epicanthus, Calcaneovalgus deformity, EEG abnormality, Optic nerve hypoplasia, Hearing impairment... |
OMIM:612513 |
Chromosome 2Q37 Deletion Syndrome |
|
Type E brachydactyly, Narrow palpebral fissure, Brachycephaly, Short fourth metatarsal, Short met... |
OMIM:600430 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Postaxial foot polydactyly, Horizontal ribs, Lateral clavicle hook, Short ribs, Trident acetabulu... |
OMIM:617405 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Small for gestational age, Inguinal hernia, Multiple suture craniosynostosis, Low-set, posteriorl... |
ORPHA:3369 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Epicanthus, Atrial septal defect, Ventricular septal defect, Thick eyebrow, Upslanted palpebral f... |
OMIM:617360 |
Cornelia De Lange Syndrome 5 |
|
Limited elbow extension, Telecanthus, Long eyelashes, Retrognathia, Brachycephaly, Proximal place... |
OMIM:300882 |
Smith-Magenis Syndrome |
|
Head-banging, Brachycephaly, Synophrys, EEG abnormality, Mandibular prognathia, Short stature, Ab... |
OMIM:182290 |
Pontocerebellar Hypoplasia, Type 3 |
|
Low-set ears, Decreased body weight, Progressive microcephaly, Cerebral atrophy, Brachycephaly, H... |
OMIM:608027 |
Jeune Syndrome |
|
Postaxial foot polydactyly, Abnormal metaphysis morphology, Micromelia, Toe syndactyly, Abnormal ... |
ORPHA:474 |
Intellectual Disability-Strabismus Syndrome |
|
Epicanthus, Atrial septal defect, Upslanted palpebral fissure, Rocker bottom foot, Hearing impair... |
ORPHA:363528 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Second metatarsal posteriorly placed, Rocker bottom foot, Carious teeth, Cerebellar hypoplasia, M... |
OMIM:214150 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Short palm, Micrognathia, Short 1st metacarpal, Elbow dislocation |
ORPHA:93328 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Polymicrogyria, Secondary microcephaly, Intrauterine growth retardation, Microcephaly, Small hand... |
OMIM:615282 |
Distal Deletion 10Q |
|
Epicanthus, Hip dislocation, Hip dysplasia, Protruding ear, Atrial septal defect, Short metatarsa... |
ORPHA:96148 |
Radio-Tartaglia Syndrome |
|
Epicanthus, Ventricular septal defect, Thick eyebrow, Upslanted palpebral fissure, Hearing impair... |
OMIM:619312 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Low-set ears, Brachycephaly, Short nose, Skeletal muscle atrophy, Intrauterine growth retardation... |
OMIM:615419 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Proximal placement of thumb, Patent foramen ovale, Short sternum, Hypo... |
OMIM:620113 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Macrocephaly, Ventricular septal defect, Optic nerve hypoplasia, Rocker bottom foot, Hearing impa... |
OMIM:301056 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Macrocephaly, Epicanthus, Atrial septal defect, Upslanted palpebral fissure, Toe syndactyly, Broa... |
OMIM:619720 |
Feingold Syndrome Type 2 |
|
Short thumb, Ventricular septal defect, Short stature, Short middle phalanx of finger, Toe syndac... |
ORPHA:391646 |
Pde4D Haploinsufficiency Syndrome |
|
Short metatarsal, Hearing impairment, Short toe, Short phalanx of finger, Cone-shaped epiphysis, ... |
ORPHA:439822 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Decreased head circumference, Dysplastic corpus callos... |
ORPHA:500166 |
19P13.12 Microdeletion Syndrome |
|
Epicanthus, Atrial septal defect, Ventricular septal defect, Microcephaly, Hypoplasia of the corp... |
ORPHA:254346 |
Marden-Walker Syndrome |
|
Inguinal hernia, Epicanthus, Microcephaly, Cerebellar hypoplasia, Blepharophimosis, Joint contrac... |
OMIM:248700 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Low-set ears, Rocker bottom foot, Parietal cortical atrophy, Microcephaly, Micrognathia, Hand cle... |
OMIM:618766 |
Omodysplasia 2 |
|
Short humerus, Dislocated radial head, Broad femoral neck, Micrognathia, Limited elbow flexion, F... |
OMIM:164745 |
Microcephaly-Capillary Malformation Syndrome |
|
Small for gestational age, Short distal phalanx of finger, Low-set ears, Progressive microcephaly... |
OMIM:614261 |
Wiedemann-Steiner Syndrome |
|
Epicanthus, Atrial septal defect, Thick eyebrow, Short palpebral fissure, Highly arched eyebrow, ... |
OMIM:605130 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal metaphysis morphology, Abnormal cortical bone morphology, Joint... |
ORPHA:2635 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Limited elbow extension, Enlargement of the costochondral junction, Short metatarsal, Capitate-ha... |
OMIM:271650 |
Coffin-Siris Syndrome 6 |
|
Plagiocephaly, Low-set ears, Epicanthus, Retrognathia, Conductive hearing impairment, Tics, Atria... |
OMIM:617808 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Low-set ears, Epicanthus, Ventricular septal defect, Posteriorly rotated ears, Downslanted palpeb... |
OMIM:619717 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebral atrophy, Partial agenesis of the corpus callosum, Hypoplasia of the pons, Simplified gyr... |
OMIM:616171 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Osseous finger syndactyly, Short palpebral fissure, ... |
ORPHA:370010 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Thoracic dysplasia, Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Obesity, Bell-... |
OMIM:615633 |
Trisomy 10P |
|
Epicanthus, Low voltage EEG, Periventricular white matter hypodensities, Abnormality of the hand,... |
ORPHA:171929 |
Ulnar Hemimelia |
|
Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality of the humer... |
ORPHA:93320 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Atrial septal defect, Bruxism, Short palpebral fissure, Short proximal phalanx of the 2nd finger,... |
ORPHA:261323 |
3P25.3 Microdeletion Syndrome |
|
Congenital pseudoarthrosis of the clavicle, Epicanthus, Ventricular septal defect, Atrial septal ... |
ORPHA:435638 |
Kohlschutter-Tonz Syndrome-Like |
|
Ventricular septal defect, EEG abnormality, EEG with focal spike waves, Thick eyebrow, Carious te... |
OMIM:619229 |
3Q13 Microdeletion Syndrome |
|
Macrocephaly, Epicanthus, Joint stiffness, Abnormality of the hand, Wide nasal bridge, Agenesis o... |
ORPHA:1621 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Macrocephaly, Type II lissencephaly, Epicanthus, Hypoplasia of the olfactory bulb, Optic nerve hy... |
ORPHA:300570 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Craniosynostosis, Abnormal septum pellucidum morphology, Low-set ears, Cerebral atrophy, Brachyce... |
ORPHA:171839 |
Masa Syndrome |
|
Camptodactyly of finger, Short stature, Hand clenching, Agenesis of corpus callosum, Clinodactyly... |
ORPHA:2466 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Macrocephaly, Ventricular septal defect, Proximal placement of thumb, Thick eyebrow, Microcephaly... |
OMIM:212066 |
Suleiman-El-Hattab Syndrome |
|
Inguinal hernia, Epicanthus, Polydactyly, Atrial septal defect, Ventricular septal defect, Protru... |
OMIM:618950 |
Chromosome 5P13 Duplication Syndrome |
|
Craniosynostosis, Macrocephaly, Small for gestational age, Low-set ears, Single transverse palmar... |
OMIM:613174 |
Insulin-Like Growth Factor I, Resistance To |
|
Ventricular septal defect, Atrial septal defect, Truncal obesity, Thick eyebrow, Upslanted palpeb... |
OMIM:270450 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachycephaly, Severe short stature, Flat occiput, Abnormal finger morphology, Mandibular prognat... |
ORPHA:2511 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Dumbbell-shaped humerus, Abnormality of the humerus, Abnormality of fibu... |
ORPHA:1836 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Macrocephaly, Epicanthus, Hip dysplasia, Atrial septal defect, Tetralogy of Fallot, Ventricular s... |
OMIM:612582 |
Smith-Magenis Syndrome |
|
Chronic otitis media, Delayed puberty, EEG abnormality, Upslanted palpebral fissure, Toe syndacty... |
ORPHA:819 |
Boomerang Dysplasia |
|
Abnormally ossified vertebrae, Abnormality of the humerus, Aplasia/Hypoplasia of the fibula, Poor... |
ORPHA:1263 |
Braddock-Carey Syndrome 1 |
|
Clinodactyly, Camptodactyly, Ventricular septal defect, Posteriorly rotated ears, Downslanted pal... |
OMIM:619980 |
Chudley-Mccullough Syndrome |
|
Polymicrogyria, Severe sensorineural hearing impairment, Partial agenesis of the corpus callosum,... |
OMIM:604213 |
Bohring-Opitz Syndrome |
|
Epicanthus, Ventricular septal defect, Atrial septal defect, Trigonocephaly, Upslanted palpebral ... |
OMIM:605039 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Craniofacial hyperostosis, Diaphyseal thickening |
ORPHA:1513 |
Adenylosuccinate Lyase Deficiency |
|
Low-set ears, Brachycephaly, Flat occiput, Short nose, Microcephaly, Hypointensity of cerebral wh... |
ORPHA:46 |
Lujan-Fryns Syndrome |
|
Macrocephaly, Camptodactyly of finger, Low-set ears, Brachycephaly, Protruding ear, Atrial septal... |
ORPHA:776 |
German Syndrome |
|
Camptodactyly of finger, Brachycephaly, Tetralogy of Fallot, Abnormal eyebrow morphology, Synophr... |
ORPHA:2077 |
Filippi Syndrome |
|
2-4 toe syndactyly, Decreased body weight, Ventricular septal defect, Serrated incisors, Intraute... |
OMIM:272440 |
Feingold Syndrome 2 |
|
Short thumb, Secondary microcephaly, Ventricular septal defect, Short stature, Short middle phala... |
OMIM:614326 |
Kleefstra Syndrome Due To A Point Mutation |
|
Plagiocephaly, Tracheomalacia, Inguinal hernia, Uplifted earlobe, Brachycephaly, Umbilical hernia... |
ORPHA:261652 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Clinodactyly, Tracheomalacia, Proximal placement of thumb, Abnormal pinna morphology, Short nose,... |
OMIM:217980 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Biparietal narrowing, Inguinal hernia, Epicanthus, Brachycephaly, Atrial septal defect, Umbilical... |
ORPHA:1292 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Epicanthus, Ventricular septal defect, Atrial septal defect, Thick eyebrow, Upslanted palpebral f... |
OMIM:617061 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Camptodactyly, Tarsal osteovalgus, Intrauterine growth retardation, Midface retrusion, Finger cli... |
OMIM:614257 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Ulnar deviation of the wrist, Long eyelashes, Brachycephaly, Short nose, Midface r... |
OMIM:618577 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Small for gestational age, Short ribs, Rhizomelia, Short tibia, Failure to thrive,... |
OMIM:607143 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Frontal polymicrogyria, Thin corpus callosum, Fusion of the caudate and putamen, Simplified gyral... |
OMIM:614039 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Macrocephaly, Slender build, Brachycephaly, Limb tremor, Short stature, Interictal epileptiform a... |
OMIM:300699 |
Phenobarbital Embryopathy |
|
Low-set ears, Epicanthus, Tetralogy of Fallot, Aplasia/Hypoplasia of fingers, Abnormal mitral val... |
ORPHA:1919 |
Gómez-López-Hernández Syndrome |
|
Telecanthus, Low-set ears, Brachycephaly, Short stature, Midface retrusion, Abnormal cerebellum m... |
ORPHA:1532 |
Weiss-Kruszka Syndrome |
|
Epicanthus, Protruding ear, Ventricular septal defect, Proximal placement of thumb, Hearing impai... |
OMIM:618619 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Thin corpus callosum, Atrial septal defect, Ventricular septal defect, Hypoplasia of the pons, Mi... |
OMIM:614249 |
Potocki-Shaffer Syndrome |
|
Parietal foramina, Single transverse palmar crease, Epicanthus, Brachycephaly, Short nose, Downsl... |
OMIM:601224 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Primary microcephaly, Microlissencephaly, Simplified gyral pattern, Short stature, Failure to thr... |
OMIM:617090 |
Coffin-Siris Syndrome 2 |
|
Macroglossia, Short distal phalanx of finger, Inguinal hernia, Abnormal corpus callosum morpholog... |
OMIM:614607 |
Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, EEG with focal spikes, Abnormal basal ganglia morphology, EEG with focal slow act... |
ORPHA:101029 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Macrocephaly, Increased bone mineral density, Brachycephaly, Broad jaw, Hearing... |
ORPHA:178377 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Cerebellar atrophy, Periventricular leukomalacia, Optic atrophy, Agenesis of corpus callosum, Joi... |
OMIM:618324 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Macrocephaly, Epicanthus, Atrial septal defect, Thick eyebrow, Long fingers, Abnormal dentate nuc... |
OMIM:619512 |
Axial Spondylometaphyseal Dysplasia |
|
Acromesomelia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, P... |
ORPHA:168549 |
20Q11.2 Microdeletion Syndrome |
|
Camptodactyly, Intrauterine growth retardation, Midface retrusion, Finger clinodactyly, Hearing i... |
ORPHA:444051 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle finger phalanx... |
ORPHA:85188 |
Joubert Syndrome 18 |
|
Camptodactyly, Agenesis of cerebellar vermis, Retrognathia, Ventricular septal defect, Postaxial ... |
OMIM:614815 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Epicanthus, Prominent ear helix, Upslanted palpebral fissure, Hearing impairment, Long fingers, S... |
OMIM:618659 |
Mosaic Trisomy 1 |
|
Macrocephaly, Camptodactyly of finger, Ventricular septal defect, Rocker bottom foot, Toe syndact... |
ORPHA:1692 |
Pentasomy X |
|
Delayed puberty, Camptodactyly of finger, Plagiocephaly, Low-set, posteriorly rotated ears, Hip d... |
ORPHA:11 |
4Q21 Microdeletion Syndrome |
|
Low-set ears, Long eyelashes, Synophrys, Intrauterine growth retardation, Hearing impairment, Tre... |
ORPHA:238750 |
Apert Syndrome |
|
Chronic otitis media, Ventricular septal defect, Brachyturricephaly, Hearing impairment, Shallow ... |
OMIM:101200 |
Brachydactyly, Type A1 |
|
Broad metacarpal epiphyses, Short distal phalanx of finger, Aplasia/Hypoplasia of the middle phal... |
OMIM:112500 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Hand tremor, Aplasia/Hypoplasia of the cerebellar vermis, Hearing impairment, Agenesis of corpus ... |
ORPHA:401830 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Short palm, Limitation of joint mobility, Flared, irregular rib ends, Coxa vara |
ORPHA:168555 |
Emanuel Syndrome |
|
Inguinal hernia, Ventricular septal defect, Atrial septal defect, Upslanted palpebral fissure, Se... |
ORPHA:96170 |
Ritscher-Schinzel Syndrome 1 |
|
Low-set ears, Hypoplastic left heart, Pulmonic stenosis, Ventricular septal defect, Atrial septal... |
OMIM:220210 |
Foxg1 Syndrome |
|
Abnormal corpus callosum morphology, Progressive microcephaly, Decreased body weight, Severe post... |
ORPHA:561854 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Single transverse palmar crease, Narrow palpebral fissure, Camptodactyly, Low-set ears, Epicanthu... |
OMIM:613604 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Small for gestational age, Slender build, Slender long bones with narrow diaphyses, Long thorax, ... |
OMIM:608154 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Polyhydramnios, Umbilical hernia, Large placenta |
ORPHA:254534 |
Pseudoachondroplasia |
|
Generalized joint laxity, Wind-swept deformity of the knees, Osteoarthritis, Irregular epiphyses,... |
ORPHA:750 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Oligodactyly, Atrial septal defect, Intrauterine growth retardation, Abnormality of the hand, Abn... |
ORPHA:521308 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Epicanthus, Retrognathia, Brachycephaly, Short stature, Upslanted palpebral fissure, Microcephaly... |
ORPHA:2528 |
15Q24 Microdeletion Syndrome |
|
Clinodactyly, Small for gestational age, Epicanthus, Proximal placement of thumb, Downslanted pal... |
ORPHA:94065 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Limb tremor, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum, Generalize... |
ORPHA:401820 |
Clark-Baraitser Syndrome |
|
Narrow palpebral fissure, Low-set ears, Epicanthus, Brachycephaly, Short nose, Upslanted palpebra... |
OMIM:617752 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Atrial septal defect, Proximal placement of thumb, Thick eyebrow, Hear... |
OMIM:610759 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Hip dysplasia, Partial agenesis of the corpus callosum, Generalized dystonia, Intrauterine growth... |
OMIM:619025 |
Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Abnormality of the humerus, Hip dislocation, Pulmonic stenosis, W... |
ORPHA:3098 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Dystonia, Aplasia of the left hemidiaphragm, Intrauterine growth retardation, Failure to thrive, ... |
OMIM:618238 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Low-set ears, Epicanthus, Ventricular septal defect, Trigonocephaly, Short nose, Posteriorly rota... |
OMIM:618506 |
Craniosynostosis 3 |
|
Bicoronal synostosis, Left unicoronal synostosis, Hallux valgus, Right unicoronal synostosis, Par... |
OMIM:615314 |
Coffin-Siris Syndrome 5 |
|
Short distal phalanx of finger, Long eyelashes, Atrial septal defect, Intrauterine growth retarda... |
OMIM:616938 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Chiari malformation, Microcephaly, Porencephalic cyst, Atrial septal defect |
ORPHA:254351 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Cerebral atrophy, Simplified gyral pattern, Absent septum pellucidum, Short stature, Upslanted pa... |
OMIM:618492 |
Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Slender build, Irregular chondrocostal junctions, Metaphyseal widening, Short ri... |
OMIM:187760 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Low-set ears, Epicanthus, Obesity, Posteriorly rotated ears, Thick eyebrow, Clinodactyly of the 5... |
ORPHA:444002 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Brachyturricephaly, Cardiomyopathy, Thick eyebrow, Ventricular hypertrophy, Hyperplasia of the ma... |
OMIM:300280 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Chronic otitis media, Epicanthus, Protruding ear, Atrial septal defect, Coxa magna, Hearing impai... |
ORPHA:261279 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Global brain atrophy, Hypoplasia of the pons, Type 1 muscle fiber predominance, Skeletal muscle a... |
OMIM:618276 |
De Barsy Syndrome |
|
Inguinal hernia, Epicanthus, Progressive microcephaly, Generalized joint laxity, Ventricular sept... |
ORPHA:2962 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Macrocephaly, Thin corpus callosum, Downslanted palpebral fissures, Sparse eyebrow, Probst bundle... |
OMIM:618286 |
Congenital Disorder Of Glycosylation, Type Il |
|
Low-set ears, Hip dislocation, Global brain atrophy, Brachycephaly, Short nose, Failure to thrive... |
OMIM:608776 |
Diastrophic Dysplasia |
|
Short finger, Elbow dislocation, Camptodactyly of finger, Increased bone mineral density, Ulnar d... |
ORPHA:628 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Small for gestational age, Primary microcephaly, Cerebellar hemisphere hypoplasia, Cerebral atrop... |
OMIM:615095 |
Coffin-Siris Syndrome 7 |
|
Low-set ears, Epicanthus, Ventricular septal defect, Trigonocephaly, Posteriorly rotated ears, Do... |
OMIM:618027 |
Lissencephaly 3 |
|
Polymicrogyria, Pachygyria, Microcephaly, Hypoplasia of the brainstem, Agyria, Lissencephaly, Hyp... |
OMIM:611603 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Plagiocephaly, Low-set ears, Conductive hearing impairment, Brachycephaly, Hip dysplasia, Mandibu... |
OMIM:618672 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Macrocephaly, Epicanthus, Facial hyperostosis, Conductive hearing impairment, Severe short statur... |
ORPHA:2780 |
Grant Syndrome |
|
Abnormal cortical bone morphology, Bowing of the long bones, Abnormality of the glenoid fossa, Ab... |
ORPHA:2097 |
Tetrasomy X |
|
Epicanthus, Hip dysplasia, Upslanted palpebral fissure, Clinodactyly of the 5th finger, Radioulna... |
ORPHA:9 |
Frank-Ter Haar Syndrome |
|
Secundum atrial septal defect, Hip dysplasia, Protruding ear, Ventricular septal defect, Atrial s... |
OMIM:249420 |
Fanconi Anemia, Complementation Group I |
|
Colpocephaly, Short 1st metacarpal, Decreased body weight, Conductive hearing impairment, Short t... |
OMIM:609053 |
Holt-Oram Syndrome |
|
Down-sloping shoulders, Pectus excavatum, Abnormality of the humerus, Absent thumb, Joint stiffne... |
ORPHA:392 |
Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Absent radius, Genu varum, Phocomelia, Coxa valga, Finger syndactyly, Micrognath... |
ORPHA:3320 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Distal amyotrophy, EEG abnormality, Facial palsy, Type 2 mus... |
OMIM:617519 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Epicanthus, Short thumb, Trigonocephaly, Hearing impairment, Microcephaly, Single transverse palm... |
OMIM:619148 |
White-Sutton Syndrome |
|
Atrial septal defect, Upslanted palpebral fissure, Optic nerve hypoplasia, Broad thumb, Patent fo... |
OMIM:616364 |
Kabuki Syndrome 2 |
|
Epicanthus, Hip dislocation, Protruding ear, Atrial septal defect, Atrioventricular canal defect,... |
OMIM:300867 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Macrocephaly, Retrognathia, Overweight, EEG abnormality, Short nose, Mandibular prognathia, Hypop... |
ORPHA:391372 |
Cono-Spondylar Dysplasia |
|
Short humerus, Short lower limbs, Failure to thrive, Cone-shaped epiphyses of the phalanges of th... |
ORPHA:420794 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal mitral valve morphology, Hernia of the abdominal wall, Abnormal shoulder morphology, Mic... |
ORPHA:1277 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Clinodactyly of the 3rd finger, Macrocephaly, Plagiocephaly, Single transverse palmar crease, Sho... |
OMIM:618821 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Tetralogy of Fallot, Stapes ankylosis, Thick eyebrow, Upslanted palpebral fissure, Highly arched ... |
OMIM:614701 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Camptodactyly of finger, Short distal phalanx of finger, Short stature, Broad thumb, Type B brach... |
ORPHA:1471 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Small for gestational age, Inguinal hernia, Low-set ears, Epicanthus, Ventricular septal defect, ... |
OMIM:314320 |
3C Syndrome |
|
Macrocephaly, Inguinal hernia, Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fa... |
ORPHA:7 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Camptodactyly of finger, Hypoplasia of the frontal lobes, Olivopontocerebellar hypoplasia, Upslan... |
ORPHA:468631 |
Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect, Dolichocephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Sho... |
OMIM:617201 |
Symbrachydactyly Of Hands And Feet |
|
Abnormality of the humerus, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb... |
ORPHA:1570 |
Potocki-Lupski Syndrome |
|
Small for gestational age, Atrial septal defect, Trigonocephaly, EEG abnormality, Downslanted pal... |
OMIM:610883 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal cupping, Metaphyseal irregularity, Brachydactyly, Coxa vara, Metaphyseal widening, Br... |
OMIM:250420 |
Brachydactyly, Type A1, C |
|
Short middle phalanx of the 4th finger, Short distal phalanx of finger, Bilateral talipes equinov... |
OMIM:615072 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Long nose, Macrocephaly, Low-set ears, Abnormally folded helix, Ventricular septal defect, Atrial... |
OMIM:309520 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Epicanthus, Brachycephaly, Flattened epiphysis, Wide anterior fon... |
ORPHA:163649 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Dysplastic pulmonary valve, Atrial septal defect, Upslanted palpebral fissure, Short palpebral fi... |
OMIM:612863 |
Brachydactyly, Type A2, With Microcephaly |
|
Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,... |
OMIM:211369 |
Developmental And Epileptic Encephalopathy 88 |
|
Inferior cerebellar vermis hypoplasia, Hypsarrhythmia, Progressive microcephaly, Partial agenesis... |
OMIM:618959 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Subcortical cerebral atrophy, Tetralogy of Fallot, Hearing impairment, Highly ar... |
ORPHA:96147 |
Cebalid Syndrome |
|
Plagiocephaly, Polymicrogyria, Low-set ears, Brachycephaly, Abnormal pinna morphology, Short nose... |
OMIM:618774 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Low-set ears, Epicanthus, Posteriorly rotated ears, Conjunctival hyperemia, Joint laxity, Agenesi... |
OMIM:619548 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Brachycephaly, Bilateral ptosis, Downslanted palpebral fissures, Chiari type I malformation, Recu... |
OMIM:618859 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Focal T2 hyperintense basal ganglia lesion, Brachycephaly, Generalized dystonia, Abnormal heart m... |
ORPHA:70472 |
Acromesomelic Dysplasia 2C |
|
Single transverse palmar crease, Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia ... |
OMIM:201250 |
Pseudoachondroplasia |
|
Short distal phalanx of finger, Radial metaphyseal irregularity, Osteoarthritis, Irregular epiphy... |
OMIM:177170 |
Sandestig-Stefanova Syndrome |
|
Epicanthus, Trigonocephaly, EEG abnormality, Perimembranous ventricular septal defect, Rocker bot... |
OMIM:618804 |
Hadziselimovic Syndrome |
|
Low-set ears, Epicanthus, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, P... |
OMIM:612946 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Brachycephaly, Hearing impairment, Midface retrusion, Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
Ravine Syndrome |
|
Abnormal basal ganglia morphology, Abnormal auditory evoked potentials, Decreased body weight, Fa... |
ORPHA:99852 |
Familial Digital Arthropathy-Brachydactyly |
|
Short distal phalanx of finger, Short middle phalanx of finger, Osteoarthritis of the small joint... |
ORPHA:85169 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Conductive hearing impairment, Cerebral atrophy, Partial agenesis of the corpus callosum, Increas... |
ORPHA:85179 |
Kleefstra Syndrome |
|
Chronic otitis media, Tetralogy of Fallot, Ventricular septal defect, Upslanted palpebral fissure... |
ORPHA:261494 |
Beck-Fahrner Syndrome |
|
Macrocephaly, Brachycephaly, Hip dysplasia, Ventricular septal defect, Protruding ear, EEG abnorm... |
OMIM:618798 |
Acrocallosal Syndrome |
|
Macrocephaly, Abnormal pulmonary valve morphology, Inguinal hernia, Epicanthus, Preaxial foot pol... |
OMIM:200990 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Atrial septal defect, Dolichocephaly, Congenital finger flexion contra... |
OMIM:121050 |
Duane-Radial Ray Syndrome |
|
Short humerus, Small thenar eminence, Absent radius, Short thumb, Preaxial polydactyly, Absent th... |
OMIM:607323 |
Melnick-Needles Syndrome |
|
Limited elbow extension, Short distal phalanx of finger, Short humerus, Hip dislocation, Pectus e... |
OMIM:309350 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Hypsarrhythmia, Thin corpus callosum, Progressive microcephaly, Brachycephaly, Muscle fiber atrop... |
OMIM:620240 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Epicanthus, Atrial septal defect, Upslanted palpebral fissure, Microcephaly, Cerebellar hypoplasi... |
OMIM:257300 |
Craniosynostosis 6 |
|
Parietal foramina, Bicoronal synostosis, Plagiocephaly, Craniosynostosis, Brachycephaly, Turricep... |
OMIM:616602 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Metaphyseal spurs, Limited elbow extension, Pectus excavatum, Thoracic hypoplasia, Metaphyseal wi... |
OMIM:608728 |
Chromosome 10Q26 Deletion Syndrome |
|
Epicanthus, Protruding ear, Atrial septal defect, Upslanted palpebral fissure, Toe syndactyly, Do... |
OMIM:609625 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Short distal phalanx of finger, Epicanthus, Hip dysplasia, Thick eyebrow, Highly arched eyebrow, ... |
OMIM:619293 |
Thanatophoric Dysplasia |
|
Macrocephaly, Cloverleaf skull, Low-set ears, Joint stiffness, Hip dysplasia, Atrial septal defec... |
ORPHA:2655 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Low-set ears, Brachycephaly, Postaxial polydactyly, Synophrys, Downslanted palpebral fissures, Up... |
OMIM:615761 |
Desbuquois Dysplasia 1 |
|
Partial duplication of the distal phalanx of the hallux, Flattened epiphysis, Short metatarsal, A... |
OMIM:251450 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Macrocephaly, Inguinal hernia, Epicanthus, Atrial septal defect, Thick eyebrow, Upslanted palpebr... |
OMIM:213980 |
Cerebrofacioarticular Syndrome |
|
Epicanthus, Abnormal heart morphology, Microcephaly, Blepharophimosis, Hypoplasia of the corpus c... |
ORPHA:314679 |
Lissencephaly, X-Linked, 1 |
|
Pachygyria, Agyria, Lissencephaly, Postnatal growth retardation, Agenesis of corpus callosum |
OMIM:300067 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Small for gestational age, Congenital hip dislocation, Ventricular septal defect, Severe postnata... |
ORPHA:3078 |
Craniofacial Dyssynostosis With Short Stature |
|
Brachycephaly, Ventricular septal defect, Brachyturricephaly, Abnormal shape of the occiput, Shor... |
OMIM:218350 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Broad distal phalanges of all fingers, Inguinal hernia, Hip dislocation, Atrial septal defect, Rh... |
OMIM:245600 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Short thumb, Atrial septal defect, Ventricular septal defect, Synophrys, Short nose, Dislocated r... |
ORPHA:401935 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Epicanthus, Rocker bottom foot, Proximal femoral epiphysiolysis, Flattened femoral head, Microcep... |
ORPHA:457395 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Inguinal hernia, Protruding ear, Atrial septal defect, Ventricular septal defect, Partial absence... |
ORPHA:329224 |
Imagawa-Matsumoto Syndrome |
|
Macrocephaly, Camptodactyly, Polymicrogyria, Umbilical hernia, Downslanted palpebral fissures, Ma... |
OMIM:618786 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
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Macrocephaly, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Single trans... |
OMIM:618870 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Hand clenching, Neonatal death, Lissencephaly, EEG with burst suppression, Microcephaly, Cerebell... |
OMIM:616342 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
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Chronic otitis media, Low-set ears, Epicanthus, Long eyelashes, Protruding ear, Synophrys, Downsl... |
ORPHA:480907 |
Marshall-Smith Syndrome |
|
Short distal phalanx of finger, Cholesteatoma, Large sternal ossification centers, Hip dysplasia,... |
OMIM:602535 |
Martsolf Syndrome 1 |
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Inguinal hernia, Epicanthus, Cardiomyopathy, Short toe, Microcephaly, Short phalanx of finger, Os... |
OMIM:212720 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Narrow greater sciatic notch, Flat acetabular roof, Delayed ossification of carpal bones, Broad t... |
OMIM:609616 |
Congenital Heart Defects And Ectodermal Dysplasia |
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Brachycephaly, Atrioventricular canal defect, Broad thumb, Microcephaly, Frontal bossing, Medial ... |
OMIM:617364 |
Chromosome 18Q Deletion Syndrome |
|
Inguinal hernia, Epicanthus, Dysplastic pulmonary valve, Proximal placement of thumb, Atrial sept... |
OMIM:601808 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of the humerus, Short tibia, Micromelia, Madelung deformity, Dorsal subluxation of ul... |
ORPHA:240 |
Thiemann Disease, Familial Form |
|
Abnormal epiphysis morphology, Abnormal metaphysis morphology, Limitation of joint mobility, Brac... |
ORPHA:3314 |
16P12.1P12.3 Triplication Syndrome |
|
Low-set ears, Epicanthus, Retrognathia, Hallux valgus, Atrial septal defect, Short nose, Intraute... |
ORPHA:485405 |
Ulnar-Mammary Syndrome |
|
Short 5th finger, Hypoplasia of the radius, Short 5th toe, Aplasia of the 4th metacarpal, Hypopla... |
OMIM:181450 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot, Intrauterine growth retardation, Clinodactyly of the 5th finger, Dolichoceph... |
ORPHA:3303 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Short distal phalanx of finger, Osteoporosis, Microcephaly, Joint hyperflexibility, Frontal bossi... |
ORPHA:2787 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Calf muscle hypertrophy, Agenesis of corpus callosum, Ptosis |
OMIM:618197 |
Christianson Syndrome |
|
Decreased muscle mass, Mandibular prognathia, Cachexia, Thick eyebrow, Abnormal repetitive manner... |
ORPHA:85278 |
2P15P16.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Inguinal hernia, Epicanthus, Protruding ear, EEG abnormality, Optic nerv... |
ORPHA:261349 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Single transverse palmar crease, Narrow palpebral fissure, Low-set ears, Synophrys, Posteriorly r... |
OMIM:619320 |
Acromicric Dysplasia |
|
Long eyelashes, Joint stiffness, Severe short stature, Abnormal eyebrow morphology, Short nose, S... |
ORPHA:969 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Inguinal hernia, Epicanthus, Protruding ear, Atrial septal defect, Ventricular septal defect, Hea... |
OMIM:300998 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormal distal phalanx morphology of finger, Abnormality of the humerus, Joint stiffness, Aplasi... |
ORPHA:1275 |
Hamamy Syndrome |
|
Inguinal hernia, Hip dysplasia, Atrial septal defect, Complete atrioventricular canal defect, Lon... |
OMIM:611174 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Primary microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum |
ORPHA:171703 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Limited elbow extension, Genu varum, Metaphyseal cupping, Flattened epiphysis, Rhizomelia, Osteoa... |
OMIM:602111 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal rib morphology, Mesomelic/rhizomelic limb shortening, Narrow chest, Abnormal metaphysis ... |
ORPHA:1354 |
Desmosterolosis |
|
Macrocephaly, Epicanthus, Microcephaly, Large earlobe, Lissencephaly, Abnormal cortical gyration,... |
ORPHA:35107 |
Greenberg Dysplasia |
|
Nonimmune hydrops fetalis, Increased nuchal translucency, Absent or minimally ossified vertebral ... |
OMIM:215140 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Camptodactyly, Polyhydramnios, Umbilical hernia, Intrauterine growth retardation, Flexion contrac... |
ORPHA:254528 |
Zechi-Ceide Syndrome |
|
Narrow palpebral fissure, Short distal phalanx of finger, Low-set ears, Conductive hearing impair... |
ORPHA:217017 |
Kury-Isidor Syndrome |
|
Low-set ears, Brachycephaly, Hip dysplasia, Ventricular septal defect, Proximal placement of thum... |
OMIM:619762 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Conductive hearing impairment, Brachycephaly, Abnormal metacarpal morphology, Inflammatory abnorm... |
ORPHA:93262 |
Ritscher-Schinzel Syndrome 4 |
|
Plagiocephaly, Hip dislocation, Brachycephaly, Hip dysplasia, Agenesis of corpus callosum, Narrow... |
OMIM:619435 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Thin corpus callosum, Cerebral atrophy, Increased skull ossification, Wide nasal bridge, Thin eye... |
OMIM:619690 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Postaxial oligodactyly, Atrial septal defect, Aplasia/Hypoplasia of the fibula, Short stature, Sh... |
ORPHA:52056 |
Snijders Blok-Campeau Syndrome |
|
Macrocephaly, Low-set ears, Inguinal hernia, Thin corpus callosum, Epicanthus, Pulmonic stenosis,... |
OMIM:618205 |
Atelosteogenesis Type Iii |
|
Club-shaped distal femur, Elbow dislocation, Ulnar deviation of the wrist, Abnormality of the hum... |
ORPHA:56305 |
Leri-Weill Dyschondrosteosis |
|
Abnormality of the humerus, Abnormal metatarsal morphology, Increased carrying angle, Abnormal ca... |
OMIM:127300 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Rickets, Thin bony cortex, Enlargement of the costochondral junction, Deformed rib cage, Bulging ... |
OMIM:600081 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Type II lissencephaly, Agenesis of cerebellar vermis, Cerebellar dysplasia, Left ventricular hype... |
OMIM:613153 |
2Q32Q33 Microdeletion Syndrome |
|
Low-set ears, Brachycephaly, Downslanted palpebral fissures, Short stature, Micrognathia, Clinoda... |
ORPHA:251019 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial foot polydactyly, Low-set ears, Brachycephaly, Bilateral ptosis, Ventricular septal def... |
ORPHA:404440 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Progressive microcephaly, Hand tremor, Short stature, Abnormal repetitive mannerisms, Recurrent h... |
OMIM:617862 |
Keipert Syndrome |
|
Clinodactyly, Macrocephaly, Camptodactyly, Low-set ears, Midface retrusion, Broad thumb, Joint la... |
OMIM:301026 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Low-set ears, Epicanthus, Downslanted palpebral fissures, Mandibular prognathia, Short stature, H... |
OMIM:619989 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, Atrial septal defect, Umbilical hernia, EEG abnormality, Downs... |
ORPHA:1035 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Cerebral atrophy, Brachycephaly, Hypomimic face, Short stature, Microcephaly, Hypoplasia of the c... |
ORPHA:320385 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Hypoplasia of the frontal lobes, Hip dysplasia, Protruding ear, Bruxism, Thick eyebrow, Highly ar... |
OMIM:156200 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Small for gestational age, Partial agenesis of the corpus callosum, EEG abnormality, Intrauterine... |
OMIM:618346 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Hip dislocation, Progressive microcephaly, Protruding ear, Hyperextensibility at wrists, Upslante... |
ORPHA:481152 |
Cleidorhizomelic Syndrome |
|
Rhizomelia, Brachydactyly, Short middle phalanx of the 5th finger, Diaphyseal thickening, Bilater... |
ORPHA:1453 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Metaphyseal cupping, Hypoplasia of the calcaneus, Rhizomelia, Thin ribs, Intrauterine growth reta... |
OMIM:300863 |
Alopecia-Intellectual Disability Syndrome |
|
EEG abnormality, Short stature, Hearing impairment, Microcephaly, Macrotia, Growth delay, Short c... |
ORPHA:2850 |
Gomez-Lopez-Hernandez Syndrome |
|
Craniosynostosis, Low-set ears, Agenesis of cerebellar vermis, Brachycephaly, Wide anterior fonta... |
OMIM:601853 |
Chromosome 15Q13.3 Deletion Syndrome |
|
Abnormal pinna morphology, Synophrys, Clinodactyly of the 5th finger, Abnormality of the palpebra... |
OMIM:612001 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Epicanthus, Ventricular septal defect, Atrial septal defect, Rhizomelia, Subvalvular aortic steno... |
OMIM:614114 |
Donnai-Barrow Syndrome |
|
Macrocephaly, Low-set ears, Partial agenesis of the corpus callosum, Ventricular septal defect, A... |
OMIM:222448 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Long nose, Brachycephaly, Ventricular septal defect, Short stature, Dextrotransposition of the gr... |
OMIM:619995 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Macrocephaly, Telecanthus, Absent extraocular muscles, Hip dislocation, Brachycephaly, Coxa valga... |
OMIM:109120 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Reduced bone mineral density, Small for gestational age, Inguinal hernia, Delayed ossification of... |
OMIM:618392 |
Osteogenesis Imperfecta, Type Xvi |
|
Small for gestational age, Beaded ribs, Rhizomelia, Mesomelia, Osteopenia, Microretrognathia, Sho... |
OMIM:616229 |
Kleefstra Syndrome 1 |
|
Conotruncal defect, Macroglossia, Brachycephaly, Abnormal pinna morphology, Synophrys, Mandibular... |
OMIM:610253 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Inguinal hernia, Hearing impairment, Increased susceptibility to fractures, Thick cerebral cortex... |
ORPHA:357058 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Reduced bone mineral density, Low-set, posteriorly rotated ears, Brachyc... |
ORPHA:1488 |
Distal Duplication 5Q |
|
Craniosynostosis, Low-set ears, Dextrocardia, Epicanthus, Absent thumb, Ventricular septal defect... |
ORPHA:96097 |
Pontocerebellar Hypoplasia, Type 11 |
|
Decreased body weight, Hypoplasia of the pons, Skeletal muscle atrophy, Short stature, Microcepha... |
OMIM:617695 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neuronal loss in the cerebral cortex, Low-set ears, Agenesis of corpus callosum, Aplasia/Hypoplas... |
ORPHA:168486 |
Microhydranencephaly |
|
Hydranencephaly, Skeletal muscle atrophy, Short stature, Athetosis, Generalized amyotrophy, Micro... |
OMIM:605013 |
Craniosynostosis, Herrmann-Opitz Type |
|
Craniosynostosis, Brachycephaly, Short nose, Finger syndactyly, Intrauterine growth retardation, ... |
ORPHA:2145 |
Warburg Micro Syndrome 3 |
|
Polymicrogyria, Brachycephaly, Secondary microcephaly, Decreased muscle mass, Short nose, Optic a... |
OMIM:614222 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Skeletal muscle atrophy, Dysplastic corpus callosum, Talipes equinovarus, Flexion contracture, Op... |
OMIM:613162 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Craniosynostosis, Inguinal hernia, Hip dislocation, Long eyelashes, Genu varum, Downslanted palpe... |
OMIM:619451 |
Noonan Syndrome 13 |
|
Epicanthus, Atrial septal defect, Highly arched eyebrow, Microcephaly, Mitral valve prolapse, Cav... |
OMIM:619087 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Cerebral atrophy, Basal ganglia cysts, Tremor, Ptosis, Microcephaly, W... |
OMIM:312170 |
Turnpenny-Fry Syndrome |
|
Macrocephaly, Atrial septal defect, Long fingers, Microcephaly, Mitral valve prolapse, Short ster... |
OMIM:618371 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Narrow palpebral fissure, Thickened helices, Epicanthus, Primary microcephaly, Brachycephaly, Lon... |
OMIM:618828 |
Hypophosphatasia |
|
Craniosynostosis, Abnormal metaphysis morphology, Failure to thrive in infancy, Abnormal rib morp... |
ORPHA:436 |
14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Ventricular septal defect, Short nose, Toe syndact... |
ORPHA:261120 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Bicoronal synostosis, Brachycephaly, Hypoplasia of the pons, Flat occiput, Downslanted palpebral ... |
OMIM:618736 |
Nicolaides-Baraitser Syndrome |
|
Long eyelashes, Curly eyelashes, Severe short stature, Abnormal finger morphology, Downslanted pa... |
ORPHA:3051 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Dysplastic pulmonary valve, Brachycephaly, Hearing impairment, Microcephaly, Wide nasal bridge, H... |
OMIM:300958 |
Filippi Syndrome |
|
Enlarged epiphyses, Limb dystonia, Clinodactyly of the 5th toe, Severe short stature, Ventricular... |
ORPHA:3255 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Epicanthus, Atrial septal defect, Trigonocephaly, Upslanted palpebral fissure, Large earlobe, Pre... |
ORPHA:79113 |
Acrodysostosis |
|
Epicanthus, Short metatarsal, Hearing impairment, Short toe, Epiphyseal stippling, Abnormal morph... |
ORPHA:950 |
Juberg-Hayward Syndrome |
|
Short thumb, Abnormal finger morphology, Abnormality of the elbow, Intrauterine growth retardatio... |
ORPHA:2319 |
Occipital Horn Syndrome |
|
Limited elbow extension, Short humerus, Pectus excavatum, Osteoporosis, Pelvic bone exostoses, Co... |
OMIM:304150 |
Stevenson-Carey Syndrome |
|
Camptodactyly, Low-set ears, Brachycephaly, Hip dysplasia, Atrial septal defect, Posteriorly rota... |
OMIM:611961 |
20P13 Microdeletion Syndrome |
|
Macrocephaly, Low-set ears, Narrow palpebral fissure, Polydactyly, Abnormal pinna morphology, Syn... |
ORPHA:313781 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Dextrocardia, Low-set ears, Long eyelashes, Downslanted palpebral fissur... |
ORPHA:2863 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
EEG abnormality, Midface retrusion, Single transverse palmar crease, Abnormal repetitive manneris... |
OMIM:617820 |
Wolf-Hirschhorn Syndrome |
|
Chronic otitis media, Epicanthus, Short thumb, Atrial septal defect, Hearing impairment, Highly a... |
ORPHA:280 |
Aymé-Gripp Syndrome |
|
Inguinal hernia, EEG abnormality, Upslanted palpebral fissure, Rocker bottom foot, Shallow orbits... |
ORPHA:1272 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Macrocephaly, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Dolicho... |
ORPHA:457279 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Camptodactyly, Epicanthus, Hypoplasia of teeth, Osteolysis involving bones of the lower limbs, Sy... |
ORPHA:88630 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Macroglossia, Camptodactyly, Retrocerebellar cyst, Atrial septal defect, Hypoplasia of the pons, ... |
ORPHA:397709 |
Brachydactyly, Type A3 |
|
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phala... |
OMIM:112700 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Inguinal hernia, Osteolysis, Joint stiffness, Protruding ear, Umbilical ... |
ORPHA:137834 |
Sweeney-Cox Syndrome |
|
Short distal phalanx of finger, Hearing impairment, Long fingers, 2-5 finger cutaneous syndactyly... |
OMIM:617746 |
Fibrochondrogenesis 2 |
|
Thoracic hypoplasia, Hypoplastic ilia, Metaphyseal cupping, Short ribs, Metaphyseal widening, Bel... |
OMIM:614524 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Small for gestational age, Brachycephaly, Mandibular prognathia, Short stature, Upslanted palpebr... |
ORPHA:93950 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Overweight, Generalized joint laxity, Short stature, Microcephaly, Abnormal repetitive mannerisms... |
ORPHA:280763 |
Partial Duplication/Triplication Of The Short Arm Of Chromosome 9 |
|
Unusual dermatoglyphics, Broad toe, Short stature, Large earlobe, Agenesis of corpus callosum, Hy... |
ORPHA:262767 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hypoplasia of the frontal lobes, Hip dislocation, Short thumb, Ventricular septal defect, Tetralo... |
OMIM:210710 |
1Q21.1 Microdeletion Syndrome |
|
Inguinal hernia, Hand polydactyly, Epicanthus, Intrauterine growth retardation, Short stature, Fo... |
ORPHA:250989 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Prominent antihelix, Cerebral atrophy, Pulmonic stenosis, Skeletal... |
OMIM:615802 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evo... |
OMIM:601382 |
Osebold-Remondini Syndrome |
|
Type A brachydactyly, Decreased finger mobility, Hypoplasia of the radius, Broad toe, Short tibia... |
OMIM:112910 |
Masa Syndrome |
|
Macrocephaly, Short stature, Adducted thumb, Microcephaly, Talipes equinovarus, Agenesis of corpu... |
OMIM:303350 |
Kaufman Oculocerebrofacial Syndrome |
|
Epicanthus, Ventricular septal defect, Atrial septal defect, Narrow palm, Upslanted palpebral fis... |
OMIM:244450 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Cerebral atrophy, Failure to thrive, Microcephaly, Growth delay, Optic atrophy, Agenesis of corpu... |
OMIM:274270 |
Chopra-Amiel-Gordon Syndrome |
|
Macrocephaly, Brachycephaly, EEG abnormality, Short stature, Upslanted palpebral fissure, Midface... |
OMIM:619504 |
Cleidocranial Dysplasia |
|
Chronic otitis media, Macrocephaly, Hearing impairment, Supernumerary tooth, Carious teeth, Decre... |
ORPHA:1452 |
Baraitser-Winter Syndrome 2 |
|
Retrognathia, Secondary microcephaly, Abnormal pinna morphology, Trigonocephaly, Short stature, H... |
OMIM:614583 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Macroglossia, Delayed puberty, Polymicrogyria, Abnormal pinna morph... |
OMIM:300354 |
Gaba-Transaminase Deficiency |
|
Retrognathia, Downslanted palpebral fissures, EEG with burst suppression, Cerebellar hypoplasia, ... |
OMIM:613163 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Atrial septal defect, Papilledema, Abnormality of the orbital region, ... |
ORPHA:371428 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short finger, Joint stiffness, Hypoplastic inferior ilia, Metaphyseal cupping, Metaphyseal wideni... |
OMIM:608940 |
3Mc Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Hearing impairment, Highly arched eyebrow, Short... |
OMIM:257920 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Delayed puberty, Ulnar deviation of the 3rd finger, Proximal placement of thumb, EEG abnormality,... |
ORPHA:456312 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal corpus callosum morphology, Cerebral atrophy, Abnormal basal ganglia morphology, Periven... |
ORPHA:255182 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Plagiocephaly, Inguinal hernia, Brachycephaly, Skeletal muscle atrophy, Abnormal globus pallidus ... |
OMIM:618603 |
Alg9-Cdg |
|
Progressive microcephaly, Ventricular septal defect, Atrial septal defect, Rhizomelia, Abnormal h... |
ORPHA:79328 |
Loeys-Dietz Syndrome 5 |
|
Inguinal hernia, Atrial septal defect, Ventricular septal defect, Osteoarthritis, Dolichocephaly,... |
OMIM:615582 |
Trichohepatoneurodevelopmental Syndrome |
|
Epicanthus, Hip dislocation, Hip dysplasia, Ventricular septal defect, EEG abnormality, Microceph... |
OMIM:618268 |
Sotos Syndrome |
|
Macrocephaly, Atrial septal defect, Ventricular septal defect, Narrow jaw, Muscular ventricular s... |
OMIM:117550 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology, Intrauterine growth retardation, Slender long bone, Abnormal pelvic gird... |
ORPHA:1506 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Epicanthus, Progressive microcephaly, Ventricular septal defect, Atrial septal defect, Trigonocep... |
OMIM:610536 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Hypsarrhythmia, Brachycephaly, Short stature, Athetosis, Failure to thrive, Microcephaly, Choreoa... |
OMIM:309541 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Progressive microcephaly, Rhizomelia, Upslanted palpebral fissure, Microcephaly, Single transvers... |
OMIM:611209 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormality of fibula morphology, Intrauterine growth retardation, Lower limb undergrowth, Microg... |
ORPHA:3035 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
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Low-set ears, Brachycephaly, Bilateral sensorineural hearing impairment, Wide nasal bridge, Front... |
OMIM:264470 |
Emanuel Syndrome |
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Inguinal hernia, Ventricular septal defect, Atrial septal defect, Upslanted palpebral fissure, Ch... |
OMIM:609029 |
20Q11.2 Microduplication Syndrome |
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Inguinal hernia, Epicanthus, Trigonocephaly, Microcephaly, Low-set, posteriorly rotated ears, Bra... |
ORPHA:363659 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
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Macrocephaly, Low-set ears, Epicanthus, Brachycephaly, Bruxism, Upslanted palpebral fissure, Midf... |
OMIM:300260 |
Epilepsy, Progressive Myoclonic, 9 |
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Generalized amyotrophy, Short thumb, Agenesis of corpus callosum, Simplified gyral pattern |
OMIM:616540 |
Xeroderma Pigmentosum, Complementation Group G |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Chromosome 14Q11-Q22 Deletion Syndrome |
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Inguinal hernia, Epicanthus, Ventricular septal defect, Short palpebral fissure, Patent foramen o... |
OMIM:613457 |
Codas Syndrome |
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Epicanthus, Congenital hip dislocation, Ventricular septal defect, Short nose, Short metacarpal, ... |
ORPHA:1458 |
Ulnar Hypoplasia |
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Radial dysplasia, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the ulna, ... |
OMIM:191440 |
Osteogenesis Imperfecta, Type Ii |
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Thoracic hypoplasia, Small for gestational age, Beaded ribs, Limb undergrowth, Thin ribs, Broad l... |
OMIM:166210 |
Chromosome 16Q22 Deletion Syndrome |
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Single transverse palmar crease, Small for gestational age, Low-set ears, Epicanthus, Hip dysplas... |
OMIM:614541 |
Al-Gazali-Bakalinova Syndrome |
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Epiphyseal dysplasia, Macrocephaly, Low-set ears, Inguinal hernia, Polydactyly, Flattened epiphys... |
OMIM:607131 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
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Single transverse palmar crease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Pr... |
ORPHA:3304 |
Coffin-Siris Syndrome |
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Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Thick eyebrow, Abnormal hea... |
ORPHA:1465 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Inguinal hernia, Epicanthus, Atrial septal defect, Ventricular septal defect, Sparse eyebrow, Mic... |
ORPHA:464738 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Long eyelashes, Primary microcephaly, Skin rash, Hypoplasia of the pons, Downslanted palpebral fi... |
OMIM:617523 |
Warburg Micro Syndrome 4 |
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Brachycephaly, Secondary microcephaly, Severe postnatal growth retardation, Decreased muscle mass... |
OMIM:615663 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
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Plagiocephaly, Low-set ears, Epicanthus, Telecanthus, Overlapping fingers, Atrial septal defect, ... |
OMIM:619383 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
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Craniosynostosis, Metaphyseal chondrodysplasia, Inguinal hernia, Hallux valgus, Low-set ears, Ven... |
ORPHA:166035 |
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
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Inguinal hernia, Protruding ear, Abnormal hip bone morphology, Short stature, Microcephaly, Agene... |
ORPHA:2508 |
Multiple Epiphyseal Dysplasia Type 1 |
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Knee joint hypermobility, Finger joint hypermobility, Joint stiffness, Hip dysplasia, Genu varum,... |
ORPHA:93308 |
2Q37 Microdeletion Syndrome |
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Macrocephaly, Upslanted palpebral fissure, Toe syndactyly, Highly arched eyebrow, Sparse eyebrow,... |
ORPHA:1001 |
Rubinstein-Taybi Syndrome 1 |
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Epicanthus, Hypoplastic left heart, Short thumb, Ventricular septal defect, Atrial septal defect,... |
OMIM:180849 |
16P13.11 Microdeletion Syndrome |
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Camptodactyly of finger, Low-set ears, Atrial septal defect, Ventricular septal defect, EEG abnor... |
ORPHA:261236 |
Acro-Renal-Ocular Syndrome |
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Short humerus, Radial club hand, Vertebral fusion, Short thumb, Finger syndactyly, Short distal p... |
ORPHA:959 |
Chromosome 3Q13.31 Deletion Syndrome |
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Plagiocephaly, Low-set ears, Epicanthus, Brachycephaly, Proximal placement of thumb, Downslanted ... |
OMIM:615433 |
Thalidomide Embryopathy |
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Radial club hand, Abnormality of fibula morphology, Aplasia/Hypoplasia of the thumb, Aplasia/hypo... |
ORPHA:3312 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
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Abnormal pinna morphology, Thick eyebrow, Upslanted palpebral fissure, Broad finger, Perianal abs... |
OMIM:614684 |
Polymicrogyria Due To Tubb2B Mutation |
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Polymicrogyria, Abnormal caudate nucleus morphology, Abnormal corpus callosum morphology, Schizen... |
ORPHA:300573 |
20P12.3 Microdeletion Syndrome |
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Macrocephaly, Thickened helices, Epicanthus, Atrial septal defect, Downslanted palpebral fissures... |
ORPHA:261295 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
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Epicanthus, Short stature, Upslanted palpebral fissure, Failure to thrive, Recurrent otitis media... |
OMIM:615286 |
Sugarman Brachydactyly |
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Double first metacarpals, Proximal placement of hallux, Symphalangism affecting the proximal phal... |
OMIM:272150 |
Cranioectodermal Dysplasia 1 |
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Short humerus, Broad distal phalanges of all fingers, Short distal phalanx of finger, Pectus exca... |
OMIM:218330 |
Rubinstein-Taybi Syndrome |
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Epicanthus, Hip dysplasia, Hearing impairment, Broad thumb, Highly arched eyebrow, Carious teeth,... |
ORPHA:783 |
Crouzon Syndrome |
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Multiple suture craniosynostosis, Conductive hearing impairment, Brachycephaly, Chiari malformati... |
ORPHA:207 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
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Angel-shaped phalanx, Short distal phalanx of finger, Low-set ears, Telecanthus, Postaxial polyda... |
OMIM:617102 |
Tonne-Kalscheuer Syndrome |
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Downslanted palpebral fissures, Short stature, Abnormal heart morphology, Micrognathia, Tremor, B... |
OMIM:300978 |
Terminal Osseous Dysplasia |
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Camptodactyly of toe, Camptodactyly of finger, Low-set ears, Epicanthus, Abnormal foot bone ossif... |
OMIM:300244 |
Schizencephaly |
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Agenesis of corpus callosum, Schizencephaly, Cerebral cortical atrophy |
OMIM:269160 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Inguinal hernia, Hip dislocation, Epicanthus, Atrial septal defect, Proximal placement of thumb, ... |
OMIM:609945 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
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Epicanthus, Secondary microcephaly, Atrial septal defect, Arachnodactyly, Short stature, Failure ... |
OMIM:300986 |
Spondylometaphyseal Dysplasia, Algerian Type |
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Short greater sciatic notch, Hypoplasia of proximal radius, Flared femoral metaphysis, Anterior r... |
OMIM:184253 |
Osteogenesis Imperfecta, Type Ix |
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Beaded ribs, Short lower limbs, Pectus excavatum, Multiple prenatal fractures, Bowing of limbs du... |
OMIM:259440 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Hip dislocation, Generalized joint laxity, Ventricular septal defect, Tetralogy of Fallot, Atriov... |
ORPHA:508498 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
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Polymicrogyria, Low-set ears, Hypsarrhythmia, Cerebral atrophy, Hip dysplasia, Atrial septal defe... |
OMIM:618494 |
Lethal Faciocardiomelic Dysplasia |
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Radial club hand, Short thumb, Hypoplasia of the radius, Short tibia, Intrauterine growth retarda... |
ORPHA:1972 |
Pontocerebellar Hypoplasia, Type 14 |
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Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla... |
OMIM:619301 |
Pontocerebellar Hypoplasia, Type 15 |
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Partial agenesis of the corpus callosum, Simplified gyral pattern, Hypoplasia of the brainstem, C... |
OMIM:619302 |
Laurence-Moon Syndrome |
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Low-set, posteriorly rotated ears, Hand polydactyly, Abnormal antitragus morphology, Brachycephal... |
ORPHA:2377 |
Multiple Synostoses Syndrome |
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Conductive hearing impairment, Joint stiffness, Broad thumb, Short palm, Symphalangism affecting ... |
ORPHA:3237 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
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Craniosynostosis, Plagiocephaly, Low-set, posteriorly rotated ears, Epicanthus, Atrial septal def... |
ORPHA:457193 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
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Inguinal hernia, Brachyturricephaly, Shallow orbits, Dolichocephaly, Microcephaly, Mitral valve p... |
OMIM:182212 |
Femoral-Facial Syndrome |
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Short humerus, Short fifth metatarsal, Absent vertebra, Short fourth metatarsal, Missing ribs, Li... |
OMIM:134780 |
7Q11.23 Microduplication Syndrome |
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Chronic otitis media, Macrocephaly, Inguinal hernia, Ventricular septal defect, Atrial septal def... |
ORPHA:96121 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
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Atrial septal defect, Intrauterine growth retardation, Short stature, Failure to thrive, Tremor, ... |
OMIM:617744 |
Summitt Syndrome |
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Craniosynostosis, Macrocephaly, Camptodactyly of finger, Plagiocephaly, Epicanthus, Finger syndac... |
ORPHA:3210 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
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Long nose, Low-set ears, Stereotypical hand wringing, Epicanthus, Abnormal pinna morphology, Brux... |
OMIM:612337 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
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Atrial septal defect, Truncal obesity, Microcephaly, Hypoplasia of the corpus callosum, Coxa vara... |
ORPHA:2637 |
Lessel-Kreienkamp Syndrome |
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Plagiocephaly, Epicanthus, Pulmonic stenosis, Atrial septal defect, Hypoplastic helices, Upslante... |
OMIM:619149 |
Achondrogenesis, Type Ia |
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Micromelia, Decreased skull ossification, Hypoplasia of the radius, Bowing of the legs, Abnormal ... |
OMIM:200600 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
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Polymicrogyria, Decreased body weight, EEG abnormality, Short stature, Optic nerve hypoplasia, Dy... |
OMIM:614833 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Uplifted earlobe, Low-set ears, Inguinal hernia, Retrognathia, Cerebral atrophy, Epicanthus, Atri... |
OMIM:616449 |
Microcephaly-Cardiomyopathy Syndrome |
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Ventricular septal defect, Intrauterine growth retardation, Short stature, Microcephaly, Dilated ... |
ORPHA:2515 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
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Macrocephaly, Plagiocephaly, Low-set ears, Epicanthus, Brachycephaly, Short nose, Posteriorly rot... |
OMIM:618430 |
Weismann-Netter Syndrome |
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Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Ab... |
ORPHA:3344 |
Abruzzo-Erickson Syndrome |
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Epicanthus, Ulnar deviation of finger, Conductive hearing impairment, Atrial septal defect, Short... |
ORPHA:921 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Type II lissencephaly, Olivopontocerebellar hypoplasia, Cardiomyopathy, Optic nerve hypoplasia, A... |
ORPHA:370959 |
Mesomelic Dysplasia, Savarirayan Type |
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Elbow dislocation, Hip dislocation, Hypoplasia of proximal radius, Mesomelia, Fibular aplasia, Gl... |
ORPHA:85170 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Epicanthus, Ventricular septal defect, Atrial septal defect, Hearing impairment, Optic nerve dysp... |
OMIM:614866 |
Microcephaly 13, Primary, Autosomal Recessive |
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Small for gestational age, Primary microcephaly, Metaphyseal sclerosis, Partial agenesis of the c... |
OMIM:616051 |
Microcephaly 26, Primary, Autosomal Dominant |
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Stereotypical hand wringing, Trigonocephaly, Short nose, Simplified gyral pattern, Short stature,... |
OMIM:619179 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
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Macrocephaly, Mandibular prognathia, Relative macrocephaly, Dolichocephaly, Wide nasal bridge, EE... |
OMIM:617169 |
Mend Syndrome |
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Low-set ears, Hand polydactyly, Limb hypertonia, Overlapping toe, Wide anterior fontanel, Short s... |
ORPHA:401973 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
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Limited elbow extension, Coronal craniosynostosis, Hip dysplasia, Short nose, Short metacarpal, S... |
OMIM:614078 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
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Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Thickened ribs, Cor... |
OMIM:122860 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Short distal phalanx of finger, Short greater sciatic notch, Absent epiphyses of the phalanges of... |
ORPHA:93314 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
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Abnormal distal phalanx morphology of finger, Low-set, posteriorly rotated ears, Ulnar deviation ... |
ORPHA:1387 |
Hall-Riggs Mental Retardation Syndrome |
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Epicanthus, Osteoporosis, Intrauterine growth retardation, Enamel hypoplasia, Failure to thrive, ... |
OMIM:234250 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
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Macrocephaly, Epicanthus, Brachycephaly, Posterior plagiocephaly, Ventricular septal defect, EEG ... |
OMIM:617798 |
Short Stature-Micrognathia Syndrome |
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Retrognathia, Decreased body weight, Ventricular septal defect, Metaphyseal widening, Rhizomelia,... |
OMIM:617164 |
Adams-Oliver Syndrome 4 |
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Atrial septal defect, Ventricular septal defect, Umbilical hernia, Aplasia of the middle phalanx ... |
OMIM:615297 |
Metaphyseal Acroscyphodysplasia |
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Telecanthus, Epicanthus, Severe short stature, Abnormal metaphysis morphology, Abnormal diaphysis... |
ORPHA:1240 |
Yunis-Varon Syndrome |
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Hypoplasia of the frontal lobes, Hip dislocation, Ventricular septal defect, Tetralogy of Fallot,... |
ORPHA:3472 |
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