| Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Distal sensory impairment, Self-injurious b... |
OMIM:613641 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Decreased nerve conduction velocity, Unsteady gait, Motor conduction... |
ORPHA:2932 |
| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Optic atrophy |
OMIM:311050 |
| Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... |
OMIM:601098 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8 |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,... |
OMIM:618912 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... |
OMIM:173800 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect |
OMIM:608681 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1J |
|
Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment |
OMIM:620111 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Spastic gait |
OMIM:611637 |
| Ceroid Lipofuscinosis, Neuronal, 9 |
|
Psychomotor deterioration, Ataxia, Optic atrophy, Loss of ambulation, Rod-cone dystrophy |
OMIM:609055 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired temperature sen... |
DECIPHER:29 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment |
OMIM:302801 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
| Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly |
ORPHA:85203 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Difficult... |
OMIM:608323 |
| Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Waddling gait, Compound muscle action potential amplitude facilitation, Decreased compound muscle... |
OMIM:616040 |
| Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology... |
ORPHA:3268 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... |
ORPHA:93406 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101075 |
| X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Decreased nerve conduction velocity, Impaired vibration sensation in the lower limbs, Distal sens... |
ORPHA:352675 |
| Amyotrophic Lateral Sclerosis 19 |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:615515 |
| Distal Hereditary Motor Neuropathy Type 5 |
|
Impaired vibratory sensation, Unsteady gait, Abnormal motor nerve conduction velocity |
ORPHA:139536 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Broad-based gait, Impaired pain sensation, Decreased nerve conduction velocity, Impaired distal v... |
ORPHA:435387 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... |
OMIM:102510 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Limb dystonia, Impulsivity, Tremor, Optic atrophy, Oromandibular dystonia, Depression, Focal dyst... |
ORPHA:216873 |
| Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Sensory ataxia, Distal sensory impairment, Paresthesia... |
ORPHA:101081 |
| Wahab Syndrome |
|
Short palm, Syndactyly, Short metacarpal, Ankylosis, Short thumb, Short foot, Camptodactyly, Clin... |
OMIM:615170 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Gait disturbance,... |
OMIM:611228 |
| Polydactyly, Postaxial, Type A5 |
|
Metacarpal synostosis, Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly |
OMIM:263450 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
| Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... |
ORPHA:98890 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 |
|
Decreased compound muscle action potential amplitude, Difficulty walking |
OMIM:619112 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Steppage gait, Im... |
OMIM:610100 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
| Spastic Ataxia 7, Autosomal Dominant |
|
Spastic ataxia, Dysdiadochokinesis, Optic atrophy |
OMIM:108650 |
| Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
| Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy, Ataxia |
OMIM:136600 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Steppage gait, Distal sen... |
OMIM:615376 |
| Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Short thorax, Enlarged thorax, Narrow pelvis bone, Absent or minimally ... |
ORPHA:66637 |
| Femoral-Facial Syndrome |
|
Short femur, Maternal diabetes, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, ... |
ORPHA:1988 |
| Autosomal Recessive Spastic Paraplegia Type 21 |
|
Gait disturbance, Abnormality of peripheral nerve conduction, Difficulty walking, Dysphagia |
ORPHA:101001 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Impaired distal vibration sensation, Abnormal sensory nerve conduction velocit... |
ORPHA:276435 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Joint hyperflexibility, Finger syndactyly, Ataxia |
ORPHA:238446 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... |
ORPHA:206594 |
| Ribose 5-Phosphate Isomerase Deficiency |
|
Increased level of ribose in urine, Ataxia, Increased level of ribitol in urine, Increased level ... |
OMIM:608611 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... |
ORPHA:370010 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Type II dia... |
ORPHA:1436 |
| Spastic Paraplegia 43, Autosomal Recessive |
|
Loss of ambulation, Optic atrophy, Gait disturbance |
OMIM:615043 |
| Chromosome 2Q35 Duplication Syndrome |
|
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... |
OMIM:185900 |
| Ceroid Lipofuscinosis, Neuronal, 11 |
|
Mental deterioration, Optic atrophy, Retinal dystrophy, Ataxia |
OMIM:614706 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin... |
ORPHA:93351 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Bradykinesia, Dysphagia, Abnormal nerve co... |
OMIM:619862 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:614373 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101078 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Unsteady gait, Limb ataxia, Gait ataxia, Progressive cere... |
ORPHA:95434 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Bradykinesia, Decreased nerve conduction velocity, Ataxia |
OMIM:183050 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Spastic gait, Gait imbalance |
ORPHA:247604 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
| Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Severe temper tantrums, Hemidystonia, Optic atrophy, Bradykinesia, Spastic gait |
OMIM:619052 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Hyperglycemia, Abnormality of the cervical spine, Glucose intolerance |
OMIM:307500 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the hallux, Single transverse palmar creas... |
OMIM:609432 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity, Steppage gait |
OMIM:607678 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
| Becker Nevus Syndrome |
|
Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Upper limb asymmet... |
ORPHA:64755 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Depression, Gait disturbance, Difficulty... |
ORPHA:98764 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Waddling gait, Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum,... |
OMIM:271650 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Narrow palm, Gait d... |
ORPHA:1445 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Cutaneous syndactyly, Camptodactyly |
OMIM:607539 |
| Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Ataxia, Optic atrophy, Dysphagia, Cognitive impairment, Dystonia |
ORPHA:1171 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal thorax morphology, Upper limb phocomelia, Abnormality of the vertebral colum... |
ORPHA:294975 |
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Somatic sensory dysfunction, Decreased nerve conduction velocity, Inability to walk, Steppage gai... |
ORPHA:99939 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Waddling gait, Decreased motor nerve conduction velocity, Hypoesthesia, Unsteady gait, Distal sen... |
OMIM:609311 |
| Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Difficulty walking... |
ORPHA:280234 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
| Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Joint stiffness, Missing ribs, Latera... |
ORPHA:1801 |
| Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... |
OMIM:619279 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Optic atrophy, Gait disturbance, Abnormal nerve conduction velocity |
ORPHA:99014 |
| Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
| Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Inability to walk, Optic atrophy |
OMIM:618572 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Maternal diabetes, Abnormality of t... |
ORPHA:1570 |
| Striatonigral Degeneration, Infantile |
|
Choreoathetosis, Dystonia, Optic atrophy, Dysphagia |
OMIM:271930 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Gait disturbance, Distal sensory impairment |
ORPHA:99944 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment |
OMIM:606595 |
| Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Spastic ataxia, Optic atrophy, Hyperglycinemia, Gait disturbance |
OMIM:616859 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia... |
OMIM:607684 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
| Spastic Paraplegia 57, Autosomal Recessive |
|
Loss of ambulation, Optic atrophy |
OMIM:615658 |
| Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Gait disturbance |
OMIM:608030 |
| Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... |
OMIM:613686 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Short thorax, Short long bone, Vertebral segmentation defect, Ta... |
OMIM:618845 |
| Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity, Steppage gait, Distal sensory impairment |
OMIM:302802 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Peripheral axonal neuropathy, Ataxia, Optic atrophy, Depression, Difficulty walking |
OMIM:619425 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Ataxia, Optic atrophy, Cognitive impairment |
ORPHA:2246 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Glucose intolerance, Short middle phalanx of f... |
OMIM:309620 |
| Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Ataxia, Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
| Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Optic atrophy, Depression |
OMIM:614296 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased motor nerve conduction velocity, Steppage gait, Facial palsy, Distal sensory impairment |
OMIM:118210 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangea... |
OMIM:151200 |
| Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
| Spastic Ataxia 4, Autosomal Recessive |
|
Spastic ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Emotional lability |
OMIM:613672 |
| Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... |
ORPHA:2345 |
| Spinocerebellar Ataxia Type 1 |
|
Chorea, Impaired proprioception, Optic atrophy, Dysmetria, Bradykinesia, Progressive cerebellar a... |
ORPHA:98755 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc... |
OMIM:608728 |
| Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Somatic sensory dysfunction |
OMIM:612577 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... |
ORPHA:2311 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Delayed skeletal maturat... |
OMIM:602111 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive ... |
OMIM:619470 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Optic disc pallor, Peripheral axonal neuropathy, Generalized dystonia, Ataxia, Inability to walk,... |
OMIM:619389 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinopathy, Progressive cereb... |
OMIM:164500 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Decreased distal sensory... |
ORPHA:99953 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Ataxia, Impaired distal ... |
OMIM:607250 |
| Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... |
OMIM:177170 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... |
OMIM:600384 |
| Leber Optic Atrophy And Dystonia |
|
Dystonia, Optic atrophy, Bradykinesia, Athetosis, Dementia, Leber optic atrophy, Dysphagia |
OMIM:500001 |
| Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Ataxia, Optic atrophy, Depression, Dementia, Cognitive impairment, Dysphagia, Sensory axonal neur... |
ORPHA:329314 |
| Roussy-Lévy Syndrome |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Somatic sensory dysfunct... |
ORPHA:3115 |
| Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Abnormal repetitive mannerisms, Optic atrophy |
OMIM:617830 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Pectus... |
OMIM:178110 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
| Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Pectus excavatum, Limitation of joint mobility, Scoli... |
ORPHA:376 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Ataxia, Optic atrophy, Pigmentary retinopathy, Mental deterioration, Retinopathy |
OMIM:610951 |
| Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment |
OMIM:600361 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Gait disturbance, Optic atrophy, Ataxia |
ORPHA:2572 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic disc pallor, Optic atrophy |
OMIM:165300 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... |
OMIM:265000 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Inability to walk, Facial diplegia, Sensory ataxia |
OMIM:618184 |
| Ataxia-Pancytopenia Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Unsteady gait, Impaired vibration sensation in the l... |
OMIM:159550 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration |
OMIM:614322 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Ataxia |
ORPHA:1368 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Irritability, EEG abnormal... |
ORPHA:457205 |
| Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
| Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Peripheral axonal neuropathy, Optic atrophy, Gait ataxia, Dysphagia, Intention tremor |
OMIM:620221 |
| Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Psychomotor deterioration, Ataxia, Optic atrophy, Depression, Macular degeneration, Irritability,... |
OMIM:256730 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Impaired distal proprioception, Impaired pain sensation, Inability to walk, Decreased nerve condu... |
ORPHA:99948 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Bradykinesia, Falls, Gait imb... |
ORPHA:240094 |
| Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form o... |
ORPHA:1149 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Waddling gait, Abnormal lower motor neuron morphology, Difficulty walking |
OMIM:611067 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Elbow dislocation, Lateral clavic... |
OMIM:171480 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Distal sensory im... |
OMIM:614436 |
| Spinocerebellar Ataxia 10 |
|
Decreased nerve conduction velocity, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ... |
OMIM:603516 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Decreased motor nerve conduction velocity, Difficulty walking |
OMIM:615575 |
| Thoracomelic Dysplasia |
|
Hyperlordosis, Elbow dislocation, Short neck, Abnormal fibula morphology, Genu valgum, Bell-shape... |
ORPHA:1803 |
| Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Optic atrophy, Inappropriate laughter, Gait ataxia |
OMIM:619323 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Facial palsy, Elevated circulating creatine kinase concentration, Abnormal retinal morpho... |
ORPHA:254886 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Inability to walk, Abnormality of the seventh cranial nerve, Distal ... |
ORPHA:90117 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Loss of ambulation, Decreased nerve conduction velocity, Dysphagia, Gait ataxia |
OMIM:249900 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Enlarged joints, Pectus excavatum, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndac... |
ORPHA:166024 |
| Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
| Autosomal Dominant Spastic Paraplegia Type 17 |
|
Spastic gait, Abnormal motor nerve conduction velocity, Distal sensory impairment |
ORPHA:100998 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Inability to walk, Gait d... |
ORPHA:101077 |
| Manganese Poisoning |
|
Akinesia, Aggressive behavior, Hypersexuality, Depression, Bradykinesia, Irritability, Gait distu... |
ORPHA:306682 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:605589 |
| Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Broad-based gait, Gait ataxia, Distal sensory impairme... |
OMIM:614895 |
| Wolfram-Like Syndrome |
|
Peripheral axonal neuropathy, Optic atrophy, Depression, Progressive cerebellar ataxia, Dementia |
ORPHA:411590 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... |
ORPHA:2635 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
| 3-Methylglutaconic Aciduria, Type I |
|
Short attention span, Ataxia, Urinary incontinence, Optic atrophy, Athetosis, Dementia, 3-Methylg... |
OMIM:250950 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S... |
ORPHA:168555 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly |
ORPHA:2935 |
| Usher Syndrome, Type Iiib |
|
Optic disc pallor, Bull's eye maculopathy, Truncal ataxia, Attenuation of retinal blood vessels |
OMIM:614504 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Decreased distal sensory nerve action potential, Gait disturbance, Impaired distal tactile sensation |
OMIM:618400 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Spinocerebellar Ataxia With Epilepsy |
|
Progressive neurologic deterioration, Tremor, Optic atrophy, Dysmetria, Depression, Gait ataxia, ... |
ORPHA:254881 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Akinesia, Fl... |
OMIM:253290 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Clinodactyly, Coxa vara, Reduced bone mineral density, Pectus carinatum, Tibial bowin... |
ORPHA:93315 |
| Primary Lateral Sclerosis, Juvenile |
|
Decreased compound muscle action potential amplitude, Pseudobulbar paralysis, Dysphagia, Loss of ... |
OMIM:606353 |
| Leukoencephalopathy With Vanishing White Matter 2 |
|
Memory impairment, Unsteady gait, Optic atrophy |
OMIM:620312 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Loss of ambulation, Decreased nerve conduction velocity, Gait disturbance, Distal sensory impairment |
OMIM:615284 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased compound muscle... |
OMIM:600882 |
| Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Single transverse palmar crease, Short nec... |
ORPHA:2332 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Optic atrophy |
OMIM:300983 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl... |
ORPHA:2141 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Shoulder g... |
OMIM:607155 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Impaired pain sensation, Decreased compound muscle action potential amplitude, Impaired distal vi... |
OMIM:618279 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... |
OMIM:244600 |
| Merrf |
|
Ataxia, Optic atrophy, Cognitive impairment |
ORPHA:551 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment |
OMIM:605588 |
| Leber Hereditary Optic Neuropathy |
|
Postural tremor, Ataxia, Retinal telangiectasia, Optic atrophy, Retinal vascular tortuosity |
ORPHA:104 |
| Camos Syndrome |
|
Nephrotic syndrome, Renal insufficiency, Optic atrophy, Ataxia |
ORPHA:83472 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Impaired vibratory sensation, Impaired distal proprioception, Impaired pain sensation, Decreased ... |
ORPHA:101097 |
| Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Ataxia |
ORPHA:1188 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carin... |
ORPHA:313892 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Should... |
OMIM:606612 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Y |
|
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Impaired distal t... |
OMIM:616687 |
| Heart Defects-Limb Shortening Syndrome |
|
Accelerated skeletal maturation, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib mor... |
ORPHA:1354 |
| Hsd10 Mitochondrial Disease |
|
Restlessness, Elevated circulating tiglylglycine concentration, Progressive neurologic deteriorat... |
OMIM:300438 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... |
OMIM:225280 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... |
ORPHA:1263 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Neur... |
ORPHA:206443 |
| 3-Methylglutaconic Aciduria, Type Iii |
|
Ataxia, Optic atrophy, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Cognitive impairment |
OMIM:258501 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Abnormality of the elb... |
ORPHA:2019 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Paresthesia |
ORPHA:640 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Aggressive behavior, Tremor, Optic atrophy, Bradykinesia, Dementia, Abnormal autonomic nervous sy... |
ORPHA:329284 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Distal sensory impairment |
OMIM:608673 |
| Salt And Pepper Developmental Regression Syndrome |
|
Choreoathetosis, Irritability, Optic atrophy |
OMIM:609056 |
| Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Gait ataxia, Bradykinesia, Shuffling gait, Short stepped shuffling gait |
ORPHA:391411 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Ataxia, Impaired distal proprioception, Impaired dista... |
OMIM:616688 |
| Sarcosinemia |
|
Ataxia, Optic atrophy, Hypersarcosinemia, Hypersarcosinuria, Emotional lability |
ORPHA:3129 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Inability to walk, Unstea... |
ORPHA:99950 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Rhizomelia, Single transverse palmar crease, Kyphoscoliosis, Shor... |
OMIM:611209 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... |
OMIM:268310 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Gait ataxi... |
ORPHA:90103 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment |
OMIM:605285 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... |
OMIM:184400 |
| Aarskog-Scott Syndrome |
|
Finger syndactyly, Genu recurvatum, Camptodactyly of finger, Single transverse palmar crease, Sho... |
ORPHA:915 |
| Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... |
OMIM:187760 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Short attention span, Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Optic at... |
ORPHA:401866 |
| Autosomal Recessive Spastic Paraplegia Type 45 |
|
Optic atrophy, Spastic gait |
ORPHA:320396 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Psychomotor deterioration, Optic atrophy, Macular degeneration, Dementia, Loss of ambulation, Rod... |
OMIM:204200 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy, Steppage gait, Cognitive impairment, Difficulty walk... |
OMIM:615035 |
| Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib morphology, Abnormal form of t... |
ORPHA:2790 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... |
OMIM:601455 |
| Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Gait disturbance,... |
OMIM:603472 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly |
OMIM:615938 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... |
OMIM:223800 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, Craniosynostosis, Accelerated skeletal maturation, 1-3 toe sy... |
OMIM:175700 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
| Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o... |
ORPHA:93323 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/Hypoplasia of the patella, Absent radius, Aplasia/hypo... |
ORPHA:3320 |
| Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Emotional lability, Progressive gait ataxia, Optic atrophy, Progressive cerebellar ataxia |
ORPHA:254343 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Inability to walk, Optic atrophy, Irritability, Athetosis, Gait disturbance, Loss of ambulation |
OMIM:618241 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
| Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Joint stiffness, Pectus ... |
ORPHA:392 |
| Narp Syndrome |
|
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Ir... |
ORPHA:644 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Hypoesthesia, Froment sign, Hand paresthesia |
OMIM:162500 |
| Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Optic atrophy, Truncal ataxia |
OMIM:611726 |
| Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Short attention span, Ataxia, Tremor, Optic atrophy, Chor... |
ORPHA:391417 |
| Spastic Paraplegia 17, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Impaired distal proprioception, Impaired vibration sen... |
OMIM:270685 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... |
OMIM:271520 |
| Leukodystrophy, Hypomyelinating, 18 |
|
Decreased nerve conduction velocity, Abnormal motor nerve conduction velocity, Dysmetria |
OMIM:618404 |
| Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Impai... |
OMIM:607706 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Pectus excavatum, Limitation of jo... |
ORPHA:2990 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... |
OMIM:608940 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Inability to walk, Opisthotonus, Pigmentary retinopathy,... |
ORPHA:216866 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Elevated circulating creati... |
OMIM:614298 |
| Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Pectus excavatum, Pectus... |
OMIM:259440 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip... |
OMIM:618395 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Pectus excavatum, Triphalangeal th... |
ORPHA:957 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Tarsal synostosis, ... |
ORPHA:2633 |
| Severe Canavan Disease |
|
Oral-pharyngeal dysphagia, Inability to walk, Optic atrophy, Irritability, Lethargy |
ORPHA:314911 |
| Cln3 Disease |
|
Ataxia, Bull's eye maculopathy, Left ventricular hypertrophy, Aggressive behavior, Optic atrophy,... |
ORPHA:228346 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly |
OMIM:214300 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Steppage gait, Gait disturbance, Distal sensory impair... |
OMIM:118300 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Waddling gait, Facial palsy, Decreased compound muscle action potential amplitude, Dysphagia, Los... |
OMIM:603511 |
| Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Inability to walk, Optic disc pallor, Optic atrophy, Dysphagia |
OMIM:617086 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
| Nescav Syndrome |
|
Inability to walk, Peripheral axonal neuropathy, Optic atrophy, Ataxia |
OMIM:614255 |
| Autosomal Recessive Spastic Paraplegia Type 74 |
|
Peripheral axonal neuropathy, Optic atrophy, Difficulty walking |
ORPHA:468661 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Dystonia, Optic atrophy, Pigmentary retinopathy, Irritability, Dysphagia, Rod-cone ... |
OMIM:264470 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Single transverse palmar crease, Short neck, Delayed skeletal matur... |
OMIM:148050 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
| Spastic Paraplegia 81, Autosomal Recessive |
|
Retinal vascular tortuosity, Inability to walk, Optic atrophy |
OMIM:618768 |
| Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... |
OMIM:601382 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Ataxia |
OMIM:618970 |
| Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
| Pontine Tegmental Cap Dysplasia |
|
Ataxia, Rib fusion, Hemivertebrae, Dysmetria, Ankle clonus, Scoliosis |
OMIM:614688 |
| Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
| Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
| Behr Syndrome |
|
Ataxia, Tremor, Unsteady gait, Optic atrophy, Truncal ataxia, Dysmetria, Hypoplastic optic chiasm... |
OMIM:210000 |
| Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Micromelia, Proximal placement of thumb, Abnorma... |
ORPHA:628 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal rib... |
ORPHA:2522 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Optic atrophy, Gait disturbance, Rod-cone dystr... |
OMIM:311070 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Gait ataxia |
OMIM:180800 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
| Spinocerebellar Ataxia 13 |
|
Optic atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Cognitive impairment, Lim... |
OMIM:605259 |
| Leukodystrophy, Hypomyelinating, 21 |
|
Ataxia, Optic atrophy, Athetosis, Dystonia, Mental deterioration |
OMIM:619310 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly, Craniosynostosis |
ORPHA:1527 |
| Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Atelosteogenesis, Type I |
|
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Vertebral hypoplasia... |
OMIM:108720 |
| Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Maternal diabetes, Hemivertebrae, Dysplastic sac... |
OMIM:134780 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Urinary incontinence, Optic atrophy, Hand tremor, Bradykinesia, Gait disturbance, Shuff... |
ORPHA:289560 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma... |
ORPHA:2916 |
| Parkinson Disease 17 |
|
Bradykinesia, Akinesia |
OMIM:614203 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Gait disturbance, Abnormal autonomic nervous system ph... |
ORPHA:139578 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
| Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy, Ataxia |
ORPHA:1186 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
| Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Peripheral axonal neuropathy, Dystonia, Ataxia, Optic atrophy, Truncal ataxia, Dysmetria, Gait at... |
OMIM:601338 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... |
OMIM:184250 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Overlapping toe, Cranio... |
OMIM:213980 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosyno... |
OMIM:619451 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Unsteady gait, Optic atrophy, Emotional lability, Gait disturbance, Memory impairment, Lethargy |
OMIM:603896 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Abnormal autonomic nervous sys... |
ORPHA:247234 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walking, Dystonia |
ORPHA:330050 |
| Perry Syndrome |
|
Akinesia, Depression, Bradykinesia, Inappropriate behavior, Disinhibition, Short stepped shufflin... |
OMIM:168605 |
| Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... |
OMIM:305620 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
| Summitt Syndrome |
|
Syndactyly, Craniosynostosis |
OMIM:272350 |
| Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction |
ORPHA:65684 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Painless fractures d... |
OMIM:243000 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Peripheral axonal neuropathy, Optic atrophy, Difficulty walking |
ORPHA:320360 |
| Spinocerebellar Ataxia 21 |
|
Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Progressive cerebel... |
OMIM:607454 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Absent brainstem audito... |
ORPHA:101085 |
| Spastic Paraplegia 7, Autosomal Recessive |
|
Waddling gait, Spastic ataxia, Urinary incontinence, Optic atrophy, Dysmetria, Gait ataxia, Urina... |
OMIM:607259 |
| Holt-Oram Syndrome |
|
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Short digit, Aplasia of th... |
OMIM:142900 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Gait disturbance |
ORPHA:2928 |
| Spinocerebellar Ataxia Type 21 |
|
Progressive cerebellar ataxia, Akinesia, Gait ataxia |
ORPHA:98773 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Optic disc pallor, Ataxia, Inability to walk, Unsteady gait, Gait ataxia, Dementia, Cognitive imp... |
ORPHA:1947 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Choreoathetosis, Decreased nerve conduction velocity |
OMIM:614932 |
| Gorlin Syndrome |
|
Vertebral fusion, Arachnodactyly, Palmar pits, Hemivertebrae, Vertebral wedging, Scoliosis, Brach... |
ORPHA:377 |
| Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Abnormal autonomic nervous system physiology, Akinesia, Aggressive behavior |
OMIM:300894 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... |
OMIM:615633 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
| Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Optic atrophy, Abnormal optic nerve morphology, Macular dystrophy, Aplasia/Hypopl... |
ORPHA:33445 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased motor nerve conduction velocity, Steppage gait, Difficulty walking, Distal sensory impa... |
OMIM:604563 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
| Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Spastic gait, Abnormal upper ... |
ORPHA:35689 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Decreased compound muscle action potential amplitude, Impaired distal vibration sensation, Distal... |
OMIM:619519 |
| Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Dementia, Optic atrophy |
OMIM:182830 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
| Corticobasal Syndrome |
|
Bradykinesia, Somatic sensory dysfunction, Gait disturbance, Akinesia |
ORPHA:454887 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Motor neuron atrophy, Falls, Spinocerebellar tract degeneration, Shuffling gait, Short stepped sh... |
ORPHA:412066 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Decreased nerve conduction velocity, Dysmetria, Dysdiadochokinesis,... |
OMIM:238970 |
| Cerebrofaciothoracic Dysplasia |
|
Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Narrow chest, Scoliosis, Bi... |
ORPHA:1394 |
| Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased motor nerve conduction velocity, Broad-based gait, Impaired distal vibration sensation,... |
OMIM:145900 |
| Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Retrobulbar optic neuritis, Gait disturbance, Optic atrophy, Ataxia |
ORPHA:3151 |
| Leukoencephalopathy With Vanishing White Matter 4 |
|
Unsteady gait, Optic atrophy |
OMIM:620314 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Accelerated skeletal m... |
ORPHA:380 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Optic atrophy, Spastic gait |
OMIM:613162 |
| Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Cherry red spot of the macula, Irritability, Optic disc pallor, Ataxia |
OMIM:615281 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx... |
ORPHA:2839 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Dystonia, Ataxia, Tremor, Optic atrophy, Bruxism, Choreoathetosis, Dysphagia, Retinopathy, Self-m... |
OMIM:619422 |
| Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Abnormality of the elbow, Abnormal rib morphology, Abnormal finger m... |
ORPHA:2319 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Ataxia, Pectus excavatum, Gait ataxia, Thoracic kyphosis, Clinodactyly |
OMIM:619092 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Hyperactivity, Uraciluria, Optic atrophy |
OMIM:274270 |
| Cednik Syndrome |
|
Optic atrophy, Ataxia, Abnormality of peripheral nerve conduction |
ORPHA:66631 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Ataxia, Urinary incontinence, Optic atrophy, Dysmetria, Urinary urgency, Dysdiadochokinesis, Diff... |
OMIM:612319 |
| Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Postural tremor, Urinary incontinence, Optic atrophy, Abnormal circulating cholesterol concentrat... |
OMIM:270800 |
| Pelizaeus-Merzbacher Disease |
|
Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dyston... |
OMIM:312080 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
| Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... |
OMIM:614524 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
| Leukodystrophy, Hypomyelinating, 16 |
|
Optic disc pallor, Broad-based gait, Dysmetria, Gait ataxia, Choreoathetosis, Shuffling gait, Dys... |
OMIM:617964 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Rib fusion, Choreoathetosis, Hand polydactyly, Scoliosis, Abnormal vertebral mo... |
ORPHA:261197 |
| Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Delayed skeleta... |
ORPHA:582 |
| Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Bull's eye maculopathy, Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Loss of ambul... |
ORPHA:157850 |
| Developmental And Epileptic Encephalopathy 47 |
|
Optic disc pallor, Ataxia, Inability to walk, Limb ataxia, Gait disturbance, Agitation, Attenuati... |
OMIM:617166 |
| Caudal Regression Syndrome |
|
Maternal diabetes, Joint stiffness, Missing ribs, Aplasia/Hypoplasia of the sacrum, Abnormal ilia... |
ORPHA:3027 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:613287 |
| Monosomy 5P |
|
Finger syndactyly, Recurrent fractures, Short neck, Small hand, Joint hyperflexibility, Abnormali... |
ORPHA:281 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Ataxia, Aggressive behavior, Decreased nerve conduction velocity, Dysmetria, Dysdiadochokinesis |
OMIM:618356 |
| Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
| Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Short 5th finger, Sco... |
OMIM:615583 |
| Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude |
OMIM:605726 |
| Spinocerebellar Ataxia 1 |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Optic disc pallor, Impai... |
OMIM:164400 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Postaxial hand p... |
ORPHA:65759 |
| Spastic Paraplegia Type 7 |
|
Optic disc pallor, Optic atrophy, Urinary urgency, Attention deficit hyperactivity disorder, Dysp... |
ORPHA:99013 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... |
ORPHA:3329 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Flexion contracture, Osteolysis involving bones of the upper limbs, Short thorax, Ost... |
ORPHA:88630 |
| Autosomal Recessive Robinow Syndrome |
|
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Bila... |
ORPHA:1507 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Unsteady gait, Type II diabetes mellitus |
OMIM:520000 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Progressive truncal ataxia, Spastic ataxia, Decreased motor nerve conduction velocity, Ataxia, Im... |
OMIM:270550 |
| Leber Congenital Amaurosis 14 |
|
Falls, Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12 |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Depression, Pigmentary retinopathy, Dementia, Progressive language deteriorati... |
ORPHA:79264 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Decreased nerve conduction velocity |
OMIM:618138 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Palm... |
OMIM:109400 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
| Peroxisome Biogenesis Disorder 8B |
|
Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Elevated circulating phytanic acid conce... |
OMIM:614877 |
| Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Ataxia, Hypospadias, Head titubation, Optic atrophy, Dysmetria, Intention tremor |
OMIM:618688 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Dysmetria, Distal sensory impairment, Tip-toe gait, Ga... |
OMIM:302800 |
| Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Distal sensory impairment |
OMIM:608895 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy |
OMIM:300928 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Dysmetria, Distal sensory impairment |
OMIM:612674 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Pain insensitivity, Impaired temperature sensation, Inability to walk, Distal sensory impairment,... |
ORPHA:36386 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... |
OMIM:300244 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Unsteady gait, Distal sensory... |
ORPHA:600 |
| Kufor-Rakeb Syndrome |
|
Ataxia, Akinesia, Aggressive behavior, Distal sensory impairment, Bradykinesia, Gait disturbance,... |
OMIM:606693 |
| Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy... |
OMIM:150250 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, O... |
ORPHA:52368 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment |
OMIM:118220 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Orthostatic hypotension, Gait disturbance |
OMIM:263570 |
| X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy, Ataxia |
ORPHA:85297 |
| 4H Leukodystrophy |
|
Dystonia, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, ... |
ORPHA:289494 |
| Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Ataxia, Inability to walk, Optic atrophy, Dysmetria, Dystonia |
OMIM:617954 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... |
OMIM:151210 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Optic atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Cognitive impairment, Dysp... |
ORPHA:1177 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Inability to walk... |
OMIM:611890 |
| Spastic Paraplegia 2, X-Linked |
|
Loss of ambulation, Optic atrophy, Spastic gait, Dysmetria |
OMIM:312920 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Prominent metopic ridge, Flexion contracture, Hyperglycemia |
OMIM:618856 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Inability... |
OMIM:214400 |
| Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Inability to walk, Chorea, Impaired proprioception, Op... |
ORPHA:95 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Peripheral axonal neuropathy, Hyperactivity, Ata... |
ORPHA:35069 |
| Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Eye poking, Atte... |
OMIM:204100 |
| Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Abnormality of peripheral nerve conduction, Ataxia, Paresthesia, Dysmetria |
ORPHA:48431 |
| Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
| Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
| Sclerosteosis |
|
Finger syndactyly, Increased bone mineral density, 2-3 finger syndactyly, Curved distal phalanges... |
ORPHA:3152 |
| Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Short neck, Clinodactyly, Split hand, Abnormal pelvic girdle bone morp... |
OMIM:157900 |
| Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Vestibular areflexia, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi... |
ORPHA:504476 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Irritability, Optic atrophy, Dystonia |
OMIM:618237 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Optic atrophy, Hyperammonemia, Choreoa... |
ORPHA:79312 |
| Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetr... |
OMIM:617302 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
| Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Aggressive behavior, Tremor, Abnormality of macular pigm... |
ORPHA:97229 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Freezing of gait, Bradykinesia, Akinesia |
OMIM:619911 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Peripheral axonal neuropathy, Optic atrophy, Ataxia |
OMIM:617207 |
| Craniofrontonasal Dysplasia |
|
Abnormal clavicle morphology, Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly ... |
ORPHA:1520 |
| Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante... |
OMIM:253000 |
| Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Radial head s... |
OMIM:146510 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia, Limb ataxia, Gait ... |
OMIM:614575 |
| Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Joint hyperflexibility, Abn... |
ORPHA:2097 |
| L-2-Hydroxyglutaric Aciduria |
|
L-2-hydroxyglutaric acidemia, L-2-hydroxyglutaric aciduria, Optic atrophy, Ataxia |
OMIM:236792 |
| Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Dystonia, Facial palsy, Elevated circulating creatine kinase concentration, Optic atrophy, Trunca... |
OMIM:258450 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... |
ORPHA:309246 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Difficulty walking, Dystonia... |
ORPHA:401768 |
| Congenital Disorder Of Glycosylation, Type Iaa |
|
Optic disc pallor, Pseudobulbar paralysis, Attenuation of retinal blood vessels |
OMIM:617082 |
| Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Chorea, Optic atrophy, Gait disturbance, Emotional l... |
OMIM:250100 |
| Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Ataxia, Gait ataxia |
OMIM:215470 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia |
OMIM:617810 |
| Lamb-Shaffer Syndrome |
|
Ataxia, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Pectus excavatum, Osteoporosis, J... |
ORPHA:1515 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Hepatomegaly, Dystonia, Ataxia, Optic atrophy, Irritability, Dysphagia, Lethargy |
OMIM:618226 |
| Spinocerebellar Ataxia Type 13 |
|
Optic disc pallor, Torticollis, Urinary incontinence, Optic atrophy, Limb ataxia, Gait ataxia, Br... |
ORPHA:98768 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased level of methylsuccinic acid in urine, Elevated circulating acylcarnitine concentration... |
ORPHA:26792 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Wild Type Abeta2M Amyloidosis |
|
Dysesthesia, Decreased nerve conduction velocity, Paresthesia, Dysphagia, Decreased amplitude of ... |
ORPHA:85446 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Increased serum pyruvate, Ataxia, Unsteady gait, Optic atrophy, Dystonia, Hyperalaninemia |
OMIM:245349 |
| Summitt Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu... |
ORPHA:3210 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioception, Gait ataxia, Ga... |
ORPHA:88628 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment |
OMIM:118200 |
| Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
| Folinic Acid-Responsive Seizures |
|
Broad-based gait, Ataxia, Optic atrophy, Irritability, Difficulty walking, Dystonia |
ORPHA:79097 |
| Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Dysphagia, Distal sensory impairment |
OMIM:607734 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Restless legs, Postural tremor, Inability to walk by childhood/adolescence, Optic atrophy, Hand t... |
ORPHA:99947 |
| White Forelock With Malformations |
|
Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ... |
ORPHA:2475 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot |
DECIPHER:46 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Pontocerebellar Hypoplasia Type 10 |
|
Irritability, Optic atrophy |
ORPHA:411493 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
| Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
| Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly... |
ORPHA:959 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Anterior rib cupping, Short neck, Lateral clavicle ... |
OMIM:269250 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Broad-based gait, Ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioceptio... |
OMIM:609033 |
| Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Impaired temperature sensation, Decreased nerve conduction velocity, Inability to walk, Impaired ... |
ORPHA:90658 |
| Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
| Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
| Hereditary Late-Onset Parkinson Disease |
|
Akinesia, Impulsivity, Depression, Bradykinesia, Agitation, Low frustration tolerance, Shuffling ... |
ORPHA:411602 |
| Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Congenital hip dislocation, Decreased hip abduction, Thoracolumbar scoliosi... |
OMIM:114300 |
| Cone-Rod Dystrophy 17 |
|
Cone/cone-rod dystrophy, Optic disc pallor |
OMIM:615163 |
| Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
| Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects |
|
Restlessness, Aggressive behavior, Optic atrophy, Exudative vitreoretinopathy, Dysphagia, Self-mu... |
OMIM:615075 |
| Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Bowing of the long bones, Tarsal synostosis, Camptodactyly of fin... |
ORPHA:90652 |
| Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Ataxia |
OMIM:616732 |
| Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargemen... |
OMIM:600081 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Dystonia, Ataxia, Optic atrophy, Gait ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Loss ... |
ORPHA:225154 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Head titubation, Optic atrophy, ... |
OMIM:608804 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
| Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
| Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Ataxia, S... |
ORPHA:280 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Athetosis, Hyperglycemia, Glycosuria |
OMIM:618857 |
| Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Pectus excavatum, Hypoplasia of the radius, Hem... |
OMIM:212780 |
| Leukoencephalopathy With Ataxia |
|
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ... |
OMIM:615651 |
| Leber Optic Atrophy |
|
Ataxia, Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atro... |
OMIM:535000 |
| Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Facial palsy, Aggressive behavior, Optic atrophy, Organic aciduria, Dysphagia |
OMIM:614707 |
| Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Dystonia, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia... |
OMIM:610217 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
| Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Urinary incontinence, Optic atrophy, Dysphagia, Progressive cerebellar ataxia, Dystonia, Mental d... |
OMIM:618868 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology |
OMIM:605253 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Impulsivity, Tremor, Unsteady gait, Optic atrophy, Attention deficit hyperactivity disord... |
ORPHA:442835 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Postural tremor, Tremor, Optic atrophy, Dysmetria, Dysphagia, Loss of ambulation |
OMIM:607694 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Peripheral axonal neuropathy, Hyperactivity, At... |
OMIM:615673 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
| Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity |
ORPHA:868 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Purple urine, Confusion, Abnormal circulating porphyrin concentration... |
ORPHA:100924 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... |
ORPHA:3082 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Akinesia, Impulsivity, Neuromuscular dysphagia, Bradykinesia, Falls, Gait imbalance |
ORPHA:240071 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Decreased nerve conduction velocity, Optic atrophy, Unsteady gait, Ataxia |
OMIM:256600 |
| Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Athetosis, Impaired oral bolus formation, Dysphagia |
OMIM:617235 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Optic atrophy, Hepatosplenomegaly, Gait ataxia, Progressive cerebellar ataxia, Intention tremor |
ORPHA:466794 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
| Idiopathic Intracranial Hypertension |
|
Papilledema, Abnormal emotion, Lethargy, Depression |
ORPHA:238624 |
| Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carinatum, Knee disloca... |
OMIM:615777 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Inability to walk, Abnormal lower motor neuron morphology, Difficulty walking |
ORPHA:2590 |
| Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Abnormal motor nerve conduction velocity, Dysphagia |
OMIM:614399 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Lateral clavicle hook, Hypopl... |
OMIM:617895 |
| Mepan Syndrome |
|
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Optic atrophy, Dysphagia, Gait disturbance, Limb ... |
ORPHA:508093 |
| Postencephalitic Parkinsonism |
|
Akinesia, Depression, Bradykinesia, Paresthesia, Dysphagia, Abnormal aggressive, impulsive or vio... |
ORPHA:97349 |
| Night Blindness, Congenital Stationary, Type 1G |
|
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy |
OMIM:616389 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Inability to walk... |
OMIM:218000 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Ataxia, Bilateral single transverse palmar creases, Hand polydactyly, Type II ... |
ORPHA:2377 |
| Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Optic atrophy, Hyperammonemia, Choreoathetosis, Renal tubular ... |
ORPHA:289916 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Peripheral axonal neuropathy, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormal autono... |
OMIM:610743 |
| Spastic Paraplegia 75, Autosomal Recessive |
|
Optic atrophy, Dysmetria, Cognitive impairment, Loss of ambulation, Spastic gait |
OMIM:616680 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Inability to walk, Optic atrophy, Sensory axonal... |
OMIM:609541 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
| Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormal nerve conduction velocity, Impaired pain sensation |
ORPHA:2926 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Hallux valgus, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxi... |
OMIM:618000 |
| Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodactyly |
OMIM:300337 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Somatic sensory dysfunction |
ORPHA:101082 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Delayed skeletal matur... |
ORPHA:1825 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Decreased motor nerve conduction velocity, Abolished vibration sense |
OMIM:620068 |
| Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Ataxia, Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Athetosis, D... |
OMIM:271245 |
| Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor, Left ventricular hypertrophy |
OMIM:618632 |
| Infantile Cerebellar-Retinal Degeneration |
|
Athetosis, Optic atrophy, Retinal dystrophy, Ataxia |
OMIM:614559 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S... |
OMIM:615503 |
| Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Unsteady gait, Optic atrophy, Limb ataxia, Gait ataxia, Depression, 3-Methy... |
OMIM:619259 |
| Leukodystrophy, Hypomyelinating, 15 |
|
Dystonia, Ataxia, Optic atrophy, Athetosis, Dysphagia, Loss of ambulation, Intention tremor |
OMIM:617951 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Optic disc pallor, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia |
OMIM:616204 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnorma... |
ORPHA:64754 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Dystonia, Ataxia, Optic atrophy, Blepharospasm, Pigmentary retinopathy, Atheto... |
OMIM:617282 |
| Spastic Paraplegia 85, Autosomal Recessive |
|
Peripheral axonal neuropathy, Torticollis, Urinary incontinence, Optic atrophy, Dysphagia |
OMIM:619686 |
| 3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... |
ORPHA:2616 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic disc pallor, Akinesia, Optic neuropathy, Optic atrophy, Choreoathetosis, Truncal ataxia |
OMIM:618249 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Optic atrop... |
OMIM:616881 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Scolios... |
ORPHA:50 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Motor tics, Hyperactivity, Dystonia, Ataxia, Urinary incontinence, Akinesia, Tremor, Optic atroph... |
OMIM:234200 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... |
OMIM:166210 |
| 3-Methylglutaconic Aciduria, Type Ix |
|
Urinary incontinence, Aggressive behavior, Optic atrophy, Choreoathetosis, 3-Methylglutaric acidu... |
OMIM:617698 |
| Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
| Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Syndactyly, Down-sloping shoulders, Pectus excavatum, Metatarsus adductus, Hype... |
OMIM:227330 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Dystonia, Cardiomegaly, Optic atrophy, Hyperammonemia, Choreoathetosis, Dysphagia, ... |
ORPHA:391428 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Inability to walk, Distal sensory impairment, Steppage... |
ORPHA:98856 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
| Friedreich Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception, Optic atrophy, Limb ataxia, Gait a... |
OMIM:229300 |
| Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Calcium oxalate nephrolithiasis, Optic atrophy, Depression |
OMIM:248000 |
| Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
| Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
| Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short... |
OMIM:600325 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... |
OMIM:602196 |
| Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Sensory a... |
OMIM:616192 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Progressive neurologic deterioration, Optic atrophy, Hyperammonemia, Irritability, D... |
OMIM:618253 |
| Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
| Cach Syndrome |
|
Progressive neurologic deterioration, Optic atrophy, Nonketotic hyperglycinemia, Dysmetria, Trunc... |
ORPHA:135 |
| Weaver Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Joint stiffness, Accelerated skeletal mat... |
ORPHA:3447 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dystonia, Ataxia, Optic atrophy, Pigmentary retinopathy, Cognitive impairment, Truncal ataxia |
OMIM:252011 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Axial dystonia, Optic disc pallor, Dystonia, Dysphagia |
OMIM:618230 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Peripheral axonal neuropathy, Tremor, Unsteady gait, Optic atrophy, Spastic/hyper... |
ORPHA:137898 |
| Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Rhizomelia, Recu... |
OMIM:616229 |
| Optic Atrophy 1 |
|
Optic atrophy, Ataxia |
OMIM:165500 |
| Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... |
OMIM:619636 |
| Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Coxa valga,... |
ORPHA:263508 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ... |
ORPHA:2251 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Dystonia, Tremor, Inability to walk, Optic atrophy, Horseshoe kidney, Choreoathetosis, Dysphagia |
OMIM:617664 |
| Leigh Syndrome |
|
Ataxia, Optic atrophy, Pigmentary retinopathy, Dystonia, Emotional lability |
OMIM:256000 |
| Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol... |
ORPHA:2876 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Ataxia |
ORPHA:1933 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe... |
ORPHA:309256 |
| Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Ataxia, Short neck, Joint stiffness, Hypoplastic iliac wing, S... |
OMIM:139210 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Flexion contracture, Scoliosis |
OMIM:619091 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Short neck, Beaded ribs, Abnormal hand bone o... |
OMIM:200600 |
| Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Dysmetria, Progressive cerebella... |
ORPHA:363429 |
| Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... |
OMIM:253010 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... |
OMIM:206900 |
| Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Missing ribs, Rib fusion, Hemivertebrae, Supernumer... |
OMIM:304050 |
| Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Progressive psychomotor deterioration, Optic atrophy, Progressive cer... |
ORPHA:263516 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Optic neuropathy, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia, Prog... |
ORPHA:101 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... |
ORPHA:1724 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Missing ribs, Bifid distal p... |
ORPHA:97360 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Tapered finger, Rib fusion, Clinodactyly of the 5th finger |
ORPHA:544488 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Decreased nerve conduction velocity |
OMIM:608236 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Hand oligodactyly, Abnormal form of the vertebral bodies, Fibular hypoplasia, ... |
ORPHA:1788 |
| Melnick-Needles Syndrome |
|
Bowing of the long bones, Delayed cranial suture closure, Coxa valga, Short thorax, Hip dislocati... |
ORPHA:2484 |
| Microcephaly, Amish Type |
|
Hypoplasia of the fovea, Irritability, Optic atrophy, Hepatomegaly |
OMIM:607196 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Abnormality of the elbow, Limitation of joint mobility, Abnormal... |
ORPHA:1486 |
| Pontocerebellar Hypoplasia, Type 9 |
|
Peripheral axonal neuropathy, Optic atrophy, Dysphagia, Irritability, Dystonia |
OMIM:615809 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Gait disturbance |
OMIM:604484 |
| Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai... |
OMIM:601152 |
| Congenital Myopathy 9A |
|
Akinesia |
OMIM:618822 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sh... |
ORPHA:958 |
| X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Distal sensory im... |
ORPHA:101076 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Decreased compound muscle action potential amplitude, Dysphagia |
OMIM:618323 |
| Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Generalized dystonia, Optic atrophy, Depression, Progressive gait ataxia, Falls, Dysphagia, Menta... |
ORPHA:329308 |
| Developmental And Epileptic Encephalopathy 61 |
|
Loss of ambulation, Optic atrophy |
OMIM:617933 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... |
OMIM:606070 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Optic atrophy,... |
ORPHA:95433 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, T... |
OMIM:215140 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Proteinuria, Progressive neurologic deterioration, Abnormal retinal vas... |
ORPHA:247691 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Choreoathetosis, Decreased nerve conduction velocity |
ORPHA:319514 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Decreased motor nerve conduction velocity, Impaired pain sensation, Dysesthesia, Impaired vibrati... |
OMIM:613640 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Phocomelia, Clinodactyly of ... |
OMIM:274000 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
| Joubert Syndrome 33 |
|
Syndactyly, Ataxia |
OMIM:617767 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Pectus excavatum, Kyphosis, Hip dislocation, Joint hyperflexibi... |
ORPHA:96169 |
| Achondrogenesis Type 1B |
|
Micromelia, Abnormal enchondral ossification, Short neck, Short thorax, Abnormal rib morphology, ... |
ORPHA:93298 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Long palm, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of... |
ORPHA:2759 |
| Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... |
OMIM:300476 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... |
OMIM:607323 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib morphology, A... |
ORPHA:2021 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... |
OMIM:218600 |
| Mucolipidosis Iv |
|
Dystonia, Optic atrophy, Retinal degeneration, Progressive neurologic deterioration |
OMIM:252650 |
| Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density |
ORPHA:1114 |
| Charlie M Syndrome |
|
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly |
ORPHA:1406 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... |
OMIM:616549 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Pectus excavatum, Kyphosis, Hypotrophy ... |
OMIM:610443 |
| Muscle-Eye-Brain Disease |
|
Gait disturbance, Optic atrophy, Elevated circulating creatine kinase concentration, Cognitive im... |
ORPHA:588 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Short palm, Brachydactyly, Tarsal synostosis, Short hallux, Tibi... |
ORPHA:363417 |
| Neuronal Intranuclear Inclusion Disease |
|
Dementia, Optic atrophy, Ataxia |
ORPHA:2289 |
| Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity, Inability to walk, Broad-based gait |
OMIM:615490 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Ataxia, Optic atrophy, Hyperammonemia, Choreoathetosis, Lethargy |
ORPHA:27 |
| Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Spas... |
OMIM:256840 |
| Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
| Arts Syndrome |
|
Optic atrophy, Ataxia, Dysphagia |
OMIM:301835 |
| Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... |
OMIM:615220 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic disc pallor, Ataxia, Optic atrophy, Left ventricular hypertrophy, Lethargy |
OMIM:618228 |
| Sialidosis Type 1 |
|
Decreased nerve conduction velocity, EEG abnormality, Ataxia, Gait disturbance |
ORPHA:812 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Bo... |
OMIM:211350 |
| Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Optic disc pallor, Restlessness, Elevated circulating hexacosanoic acid concentration, Optic atro... |
OMIM:614388 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Choreoathetosis, Optic atrophy, Dystonia |
OMIM:618238 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Difficulty walking |
OMIM:613954 |
| Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Neurogenic bladder, Optic atrophy, Ataxia |
OMIM:618248 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin clavicles, Delayed skeletal maturation, ... |
ORPHA:93324 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Decreased nerve conduction velocity, Facial diplegia, Difficulty walking, Depression |
ORPHA:329478 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scolio... |
ORPHA:2180 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand |
OMIM:603543 |
| Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Gait disturbance, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Cone-shaped epiphysis, ... |
OMIM:157800 |
| Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Abnormal form of the vertebral bodies, Vertebral fusion, Pseudoe... |
OMIM:194190 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Tremor, Dysmetria, Depression, Pigmentary retinopathy, Progressive cerebellar ... |
ORPHA:502423 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Inability to walk, Optic atrophy, Hyperammonemia, 3-Methylglutaconic aciduria, Dystonia, Hyperala... |
OMIM:614739 |
| Joubert Syndrome 28 |
|
Optic disc pallor, Ataxia, Pigmentary retinopathy |
OMIM:617121 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Severe temper tantrums, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Dysmetria, Athetosis,... |
OMIM:617710 |
| Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bo... |
ORPHA:503 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity |
OMIM:613724 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Optic atrophy, Choreoathetosis, Dystonia |
OMIM:612438 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Impaired distal proprioception, Distal sensory impairm... |
OMIM:162400 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Broad-based gait, Ataxia, Optic atrophy, Dysmetria, Dysphagia |
OMIM:618233 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Optic atrophy, Gait ataxia, Difficulty walking, Dystonia, Abnormal repetitive m... |
OMIM:617807 |
| Sifrim-Hitz-Weiss Syndrome |
|
Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short clavicles, Short femoral ne... |
OMIM:617159 |
| Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, P... |
ORPHA:309271 |
| Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... |
ORPHA:373 |
| Macular Dystrophy With Central Cone Involvement |
|
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... |
OMIM:616170 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:607831 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,... |
OMIM:224300 |
| Prune1-Related Neurological Syndrome |
|
Retinopathy, Inability to walk, Optic atrophy, Elevated circulating creatine kinase concentration |
ORPHA:544469 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Micromelia, Split hand, Abnormal rib morphology, Brachydactyly |
ORPHA:2145 |
| Mosaic Trisomy 14 |
|
Camptodactyly of finger, Short neck, Abnormal rib morphology, Narrow chest, Bilateral single tran... |
ORPHA:1703 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Optic atrophy, Retinal dystrophy, Anorexia |
ORPHA:49827 |
| Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Renal insufficiency, Optic atrophy, Nephrotic syndrome, Retinal arte... |
OMIM:249660 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:613151 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
| Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Truncal titubation, Optic atrophy, Gait ataxia |
OMIM:618800 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Urinary incontinence, Decreased nerve conduction velocity, Progressive psyc... |
ORPHA:309263 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ata... |
ORPHA:96180 |
| Grange Syndrome |
|
Short palm, Syndactyly, Increased susceptibility to fractures |
ORPHA:79094 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Splenomegaly, O... |
OMIM:608799 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, I... |
OMIM:614381 |
| Yuan-Harel-Lupski Syndrome |
|
Broad-based gait, Decreased nerve conduction velocity, Unsteady gait, Distal sensory impairment, ... |
OMIM:616652 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Short neck, Limitation of joint mobil... |
ORPHA:2994 |
| Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda... |
OMIM:101200 |
| Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Short neck, Generalized joint laxity, Thoracic kyphosis, Hypermobility of int... |
ORPHA:508498 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c... |
OMIM:612852 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Accelerated skelet... |
ORPHA:1517 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ora... |
ORPHA:254930 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Barrel-shaped chest, Short metacarpal, Radial bowing, Recurrent fractur... |
OMIM:610915 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Pectus excavatum, Kyphosis, Sclerosis of skull base, Scoliosis, Wor... |
OMIM:130720 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Dementia, Optic atrophy, Ataxia |
ORPHA:1173 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Thin ribs, Femo... |
OMIM:617952 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology |
ORPHA:1506 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
| Mohr Syndrome |
|
Syndactyly, Pectus excavatum, Preaxial hand polydactyly, Postaxial hand polydactyly, Flared metap... |
OMIM:252100 |
| Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Dystonia, Increased serum beta-hexosaminidase... |
ORPHA:845 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron mo... |
ORPHA:52430 |
| Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Narrow ... |
ORPHA:436 |
| Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Impaired glucose tolerance, Down-sloping shoulders, Joint stiffness, Coxa valga, Insu... |
OMIM:248370 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Th... |
OMIM:620076 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Ataxia, Optic atrophy, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduri... |
ORPHA:254913 |
| Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Steppage gai... |
OMIM:616505 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Difficulty walking |
ORPHA:529665 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Ataxia, Elevated circulating acylcarnitine concentration, Abnormal circulating... |
OMIM:615838 |
| Spastic Paraplegia Type 2 |
|
Spastic/hyperactive bladder, Optic atrophy, Spastic gait, Ataxia |
ORPHA:99015 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Flexion contracture, Hyperinsulinemia, Glucose intolerance, ... |
OMIM:608612 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Ataxia, Optic atrophy, Depression, Dementia, Memory impairment |
OMIM:604121 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac... |
OMIM:259420 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A... |
ORPHA:1120 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Progressive cerebellar ataxia, Abnormal upper motor neuro... |
ORPHA:275872 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Vertebral segmentatio... |
ORPHA:1323 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Ataxia, Morning glory anomaly, Optic atrophy, Dementia, Gait disturbance, Cognitive impairment, D... |
ORPHA:98673 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... |
OMIM:613091 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Dystonia, Ataxia, Postural tremor, Optic atrophy, Dysmetria, Autonomic bladder dysfunction, Dysph... |
ORPHA:447896 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Hyperlordosis, Short neck, Symphalangism affecting the phalange... |
ORPHA:710 |
| Renpenning Syndrome |
|
Diabetes mellitus, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal rib mor... |
ORPHA:3242 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Thoracic scoliosis, Multiple rib fractures, Rhizomelia, Short femur, Mi... |
OMIM:613848 |
| Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Delayed skeletal matu... |
OMIM:244460 |
| Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Ataxia, Tremor, Optic atrophy, Pigmentary retinopathy, Dysphagia... |
OMIM:222300 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Ovoid vertebral bodies, ... |
ORPHA:85167 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Redu... |
ORPHA:1488 |
| Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Optic atrophy, Abnormal retinal nerve fiber layer mo... |
ORPHA:1215 |
| Optic Atrophy 5 |
|
Optic disc pallor, Optic atrophy |
OMIM:610708 |
| Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar creas... |
OMIM:305400 |
| Cleidocranial Dysplasia |
|
Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Spina bifida ... |
ORPHA:1452 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal form of the vertebral b... |
ORPHA:3429 |
| 1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Kyphosis, Rib fusion, Spinal canal st... |
ORPHA:1606 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
| Opticocochleodentate Degeneration |
|
Mental deterioration, Optic atrophy |
OMIM:258700 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal wi... |
OMIM:271640 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Talipes equinovarus, Joint hypermobility, Camptodactyly |
OMIM:617333 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Joubert Syndrome 17 |
|
Ataxia, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Shashi-Pena Syndrome |
|
Short metacarpal, Hypoglycemia, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Deep pal... |
OMIM:617190 |
| Lethal Congenital Contracture Syndrome 2 |
|
Akinesia |
OMIM:607598 |
| X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... |
ORPHA:89936 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Abnormal autonomic nervous system physiology, Akinesia |
OMIM:616840 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Chorea, Impaired distal vibration sensation, Impaired ... |
OMIM:606002 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Ataxia, Inability to walk, Dysmetria, Clinodactyly |
OMIM:618087 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Accelerated skeletal maturation, Short neck, Metaphyseal chondrodysplasia, Abnormal f... |
ORPHA:175 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Decreased skull ossification |
OMIM:601163 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Gait disturbance |
OMIM:221770 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Tip-toe ... |
ORPHA:565624 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva... |
ORPHA:2772 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Ataxia, Urinary incontinence, Optic atrophy, Depression, Head tremor, Mental dete... |
ORPHA:314404 |
| Silver-Russell Syndrome 1 |
|
Syndactyly, Delayed skeletal maturation, Short distal phalanx of the 5th finger, Fasting hypoglyc... |
OMIM:180860 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Short neck, Bowing of the legs, Knee flexion contracture, Abnormal calcification of t... |
OMIM:271665 |
| Infantile Refsum Disease |
|
Hepatomegaly, Ataxia, Facial palsy, Optic atrophy, Elevated circulating phytanic acid concentrati... |
ORPHA:772 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Abnormal rib morphology, ... |
ORPHA:3035 |
| Acromicric Dysplasia |
|
Decreased nerve conduction velocity |
ORPHA:969 |
| Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Kyphosis, Abnormal rib morpho... |
ORPHA:2050 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Lethargy, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Chorioretinal dysplasia, Aggressive behavior, Chorioretinal lacunae, Optic at... |
OMIM:152950 |
| Meningococcal Meningitis |
|
Papilledema, Renal insufficiency, Elevated circulating C-reactive protein concentration, Anorexia... |
ORPHA:33475 |
| Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Dystonia, Renal insufficiency, Optic atrophy, Hyperkalemia, Limb ... |
OMIM:617595 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Chorea, Ataxia |
OMIM:604168 |
| Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Hyperlordosis, Short neck, Delayed skeletal maturation, S... |
OMIM:612921 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
| Zttk Syndrome |
|
Craniosynostosis, Kyphosis, Flexion contracture, Hemivertebrae, Rib fusion, Small hand, Short foo... |
OMIM:617140 |
| Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Ataxia, Confusion, Oligosacchariduria, Depression, Hepatosplenomegaly |
ORPHA:309288 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Aplastic ... |
ORPHA:1512 |
| Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, T... |
ORPHA:163966 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Ataxia, Postural tremor, Head titubation, Optic atrophy, Opto-chiasmatic atrophy, Dysmetria, Loss... |
OMIM:615491 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Abnormality of peripheral nerve conduction |
ORPHA:101005 |
| Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Hematuria, Retinal detachment, Optic atrophy, Chorioretinal coloboma |
ORPHA:1473 |
| Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co... |
ORPHA:249 |
| Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Dysphagia, Loss of ambulation... |
ORPHA:93399 |
| Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal finger flexion crease, Kyphosco... |
ORPHA:2980 |
| Peroxisome Biogenesis Disorder 4B |
|
Decreased nerve conduction velocity, Optic atrophy, Ataxia, Gait disturbance |
OMIM:614863 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... |
OMIM:600002 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Optic disc pallor, Hyperprolinemia, Cardiomegaly |
OMIM:619170 |
| Leukodystrophy, Hypomyelinating, 22 |
|
Inability to walk, Optic disc pallor |
OMIM:619328 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Ataxia, Tip-toe gait, Diff... |
OMIM:205100 |
| Supranuclear Palsy, Progressive, 2 |
|
Akinesia, Bradykinesia, Irritability, Falls, Gait imbalance, Dysphagia |
OMIM:609454 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Ataxia, Optic atrophy, Aminoaciduria, Retinal degeneration |
OMIM:249270 |
| Microphthalmia With Limb Anomalies |
|
Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig... |
ORPHA:1106 |
| Poliomyelitis |
|
Anorexia, Abnormal motor nerve conduction velocity, Inability to walk, Irritability, Agitation, P... |
ORPHA:2912 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Areflexia of upper limbs, Gait ataxia, Fused cervical vertebrae, Progressive cerebell... |
ORPHA:268882 |
| Krabbe Disease |
|
Decreased nerve conduction velocity, EEG abnormality, Optic atrophy |
OMIM:245200 |
| Mucopolysaccharidosis, Type X |
|
Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspondyly, Posterior scalloping ... |
OMIM:619698 |
| X-Linked Intellectual Disability, Najm Type |
|
Gait disturbance, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma |
ORPHA:163937 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial hand polydactyly, Hypoplasia... |
ORPHA:233 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Knee flexion contr... |
OMIM:600920 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... |
OMIM:609945 |
| Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia |
OMIM:618858 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bodies, Thin rib... |
ORPHA:73230 |
| Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
| Pallister-Hall Syndrome |
|
Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowing, Radial head sub... |
ORPHA:672 |
| Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura... |
ORPHA:93317 |
| Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
| Trigeminal Neuralgia |
|
Somatic sensory dysfunction, Cranial nerve compression, Depression, Paresthesia, Allodynia |
ORPHA:221091 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Craniosynostosis, Abnormality of thumb phalanx, Preaxial hand ... |
ORPHA:1553 |
| Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Ataxia, Optic atrophy, EEG with focal epileptiform dis... |
ORPHA:1187 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb... |
OMIM:617796 |
| Pfeiffer Syndrome |
|
Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Brachydactyly, Joint stiffness, Kyphosis, Abnormality of the elbow, Hip disloc... |
ORPHA:1005 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Short neck |
ORPHA:251046 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Syndactyly, Polydactyly |
OMIM:602501 |
| Xylt1-Cdg |
|
Joint dislocation, Joint laxity, Accelerated skeletal maturation, Coxa valga, Flared metaphysis, ... |
ORPHA:370930 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Short ... |
OMIM:609053 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Degeneration of anterior horn cells, Decreased compound muscle action potential amplitude, Facial... |
OMIM:301830 |
| Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
| Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
| Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Tip-toe gait, Gait disturbance, Emotional lability, ... |
ORPHA:512 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology, Gait disturbance, Spastic gait, Gait ataxia |
OMIM:601162 |
| Combined Oxidative Phosphorylation Deficiency 7 |
|
Ataxia, Optic atrophy, Facial diplegia, Dysphagia, Facial paralysis |
OMIM:613559 |
| Developmental And Epileptic Encephalopathy 93 |
|
Inability to walk, Optic atrophy, Gait disturbance |
OMIM:618012 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Loss of ambulation, Decreased motor nerve conduction velocity |
OMIM:610532 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Short tubular bones of the hand, Coxa valga, Vertebra... |
ORPHA:85184 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, Vertebral clefting, Hemivertebrae, 2-3 toe syndactyl... |
OMIM:614701 |
| Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Lateral clavicle hook, Flexion contracture, Hemivertebrae, Flat glenoid fossa, P... |
OMIM:224690 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
| Ellis-Van Creveld Syndrome |
|
Hypoplastic iliac wing, Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Gen... |
OMIM:225500 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... |
OMIM:604367 |
| Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity |
ORPHA:93476 |
| Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Painless fractures due to injury, Decreased sensory nerve conduction velocity, Decreased nerve co... |
OMIM:201300 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Diabetes mellitus, Postaxial polydactyly |
OMIM:605231 |
| Aceruloplasminemia |
|
Ataxia, Akinesia, Chorea, Limb ataxia, Gait ataxia |
ORPHA:48818 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Joint stiffness, O... |
ORPHA:465508 |
| Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Ataxia, Elevated circulating creatine kinase concentration, Oral-pharyngeal dysphagia,... |
OMIM:616878 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Steppage gait, Abnormality of peripheral nerve conduction |
ORPHA:168563 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Impaired vibratory sensation, Abnormality of peripheral somatosensory evoked potentials, Somatic ... |
ORPHA:466768 |
| 17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal vertebral morphology |
ORPHA:261272 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
| Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Short first metatarsal, Short 5th toe, Prominent fingertip pads, Broad ... |
OMIM:613684 |
| 2Q31.1 Microdeletion Syndrome |
|
Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of... |
ORPHA:251014 |
| Canavan Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Cognitive impairment |
ORPHA:141 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... |
OMIM:619227 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Optic atrophy, Hyperammonemia, Dystonia, Hyperalaninemia |
OMIM:614702 |
| Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Bulimia, Optic atrophy |
OMIM:614651 |
| Short Syndrome |
|
Joint laxity, Enlarged epiphyses, Delayed skeletal maturation, Insulin resistance, Insulin-resist... |
OMIM:269880 |
| Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Single transverse palmar crease, Short neck, 2-3 toe syndactyly, Cutaneous syndactyly, Talipes eq... |
OMIM:236500 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Kyphoscoliosis, Missing ribs, Split... |
OMIM:200980 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Waddling gait, Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Optic... |
OMIM:251900 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Ataxia, Optic atrophy, Opto-chiasmatic atrophy, Gait ataxia, Elevated urine acetoacetic acid leve... |
OMIM:620089 |
| Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm... |
ORPHA:485421 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... |
ORPHA:2167 |
| Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Ataxia, Repetitive compulsive behavior, Optic atrophy, Perineal hypospadias,... |
ORPHA:66634 |
| Angelman Syndrome |
|
Optic disc pallor, Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Tremor, Inabilit... |
ORPHA:72 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tap... |
OMIM:609638 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow... |
OMIM:617137 |
| Pelizaeus-Merzbacher Disease |
|
Ataxia, Optic atrophy, Choreoathetosis, Gait disturbance, Dystonia |
ORPHA:702 |
| Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
| Madras Motor Neuron Disease |
|
Optic atrophy, Facial palsy, Dysphagia |
ORPHA:137867 |
| Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... |
OMIM:200610 |
| Supranuclear Palsy, Progressive, 1 |
|
Akinesia, Bradykinesia, Irritability, Falls, Gait imbalance, Dysphagia |
OMIM:601104 |
| Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Deviation of finger, Abno... |
OMIM:269500 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma |
OMIM:613576 |
| Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
| Oculodentodigital Dysplasia |
|
Abnormal clavicle morphology, Finger syndactyly, Toe syndactyly, Ataxia, Camptodactyly of finger,... |
ORPHA:2710 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis, Delayed skeletal maturation, Limitation of joint mobility, Abnormal rib morphology... |
ORPHA:3068 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi... |
OMIM:276820 |
| Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
| Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,... |
ORPHA:552 |
| Silver-Russell Syndrome 3 |
|
Syndactyly, Elbow contracture, Delayed skeletal maturation, Small hand, Antecubital pterygium, Cl... |
OMIM:616489 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Sacral dimple, Rocker bottom foot, Proximal placement of thumb, Short neck, Hi... |
OMIM:619762 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Ataxia, Optic atrophy, Hyperhomocystinemia, Cystathioninemia, Gait disturbance... |
ORPHA:395 |
| Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Clinodactyly, Short finger |
OMIM:300049 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Ataxia, Abnormality of the hand, Short neck, Arthrogryposis-like hand anomaly, Campto... |
ORPHA:369891 |
| Jaberi-Elahi Syndrome |
|
Broad-based gait, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Choreoathetos... |
OMIM:617988 |
| Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Ataxia, Splenomegaly, Progressive psychomotor deterioration, Optic atrophy, Gait di... |
OMIM:230600 |
| Congenital Myopathy 12 |
|
Akinesia |
OMIM:612540 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Restlessness, Optic atrophy, Dysphagia, Opisthotonus, Dystonia |
OMIM:277470 |
| Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Increased bone mi... |
ORPHA:800 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Absent... |
ORPHA:1234 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Impaired pain sensation, Inability to walk, Impaired d... |
ORPHA:99949 |
| Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Osteoarthritis, Flexion contracture, Bone pain, Abnorm... |
ORPHA:666 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Decreased nerve conduction velocity, Optic atrophy, Ataxia |
OMIM:610651 |
| Fetal Akinesia Deformation Sequence |
|
Akinesia |
ORPHA:994 |
| Cerebral Visual Impairment |
|
Optic disc pallor, Short attention span, Optic nerve hypoplasia, Optic atrophy, Retinopathy of pr... |
ORPHA:447788 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Osteoporosis, Camptodactyly |
OMIM:616006 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital femoral epiphyses, C... |
OMIM:208500 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... |
OMIM:217085 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Short neck, Delayed skeletal maturation, Small hand, Abnormal form of the vert... |
ORPHA:1787 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Broad clavicles, Aplasia/Hypop... |
OMIM:151050 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Long palm, T... |
ORPHA:2215 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased nerve conduction velocity, Broad-based gait, Distal sensory impairment |
ORPHA:477817 |
| Pyknoachondrogenesis |
|
Abnormal intramembranous ossification, Micromelia, Short iliac bones, Hypoplastic ischia, Short t... |
ORPHA:3003 |
| Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal thorax morphology, ... |
ORPHA:1318 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Sagittal craniosynostosis, Absent thumb, He... |
ORPHA:500150 |
| Filippi Syndrome |
|
Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly, 2-4 toe syndactyly |
OMIM:272440 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Hypoglycemia, Short 5th finger, Polydactyly, Ectrodactyly, Clinodactyly of the 5th fi... |
ORPHA:397590 |
| Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Limitation o... |
ORPHA:93259 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Scoliosis |
OMIM:619737 |
| Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
| Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
| Dpagt1-Cdg |
|
Ataxia, Akinesia, Aggressive behavior, Inability to walk, Optic atrophy, Head-banging, Hypsarrhyt... |
ORPHA:86309 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus... |
OMIM:607872 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Short hallux, Abnormal metacarpal morphology, Abnormal vertebr... |
ORPHA:3224 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Kyphosis, Inability to walk,... |
ORPHA:464738 |
| Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Optic atrophy, Hypercalciuria, Depression, Nephrocalcinosis, Hyperphosphatemia, H... |
ORPHA:428 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Degeneration of anterior horn cells, Decreased nerve conduction velocity |
OMIM:604320 |
| Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Joint stiffness, Flexion contracture, Pectus carinatum, Overlapp... |
OMIM:609069 |
| Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Unsteady gait, Decreased amplitude of sensory action potentials |
OMIM:618733 |
| Donohue Syndrome |
|
Delayed skeletal maturation, Hyperinsulinemia, Large hands, Fasting hypoglycemia, Postprandial hy... |
OMIM:246200 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... |
ORPHA:87 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Optic atrophy, Inappropriate laughter, Hypocalcemia, Cognitive impairment, Mental deterio... |
OMIM:618476 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hemivertebrae, Missing ribs |
OMIM:220210 |
| Norrie Disease |
|
Retinal detachment, Aggressive behavior, Optic atrophy, Dementia, Retinal dysplasia, Retinal fold |
OMIM:310600 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia |
OMIM:225790 |
| Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Brachydactyly, Pectus excavatum, Delayed skeletal maturation, Small hand, Shor... |
ORPHA:1786 |
| Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Camptodactyly of finger, Overlapping toe, Clinodactyly of the 5th finge... |
OMIM:300963 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Renal insufficiency, Proteinuria, Abnormal retinal vascular ... |
ORPHA:2715 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Neurogenic bladder, Optic atrophy, Hypoplastic optic chiasm, Dysphagia, Dystonia |
OMIM:617669 |
| Amaurosis-Hypertrichosis Syndrome |
|
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy |
ORPHA:1021 |
| Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... |
ORPHA:2769 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Joint stiffness, Split hand, Abnormal rib morphology, Poplitea... |
ORPHA:1300 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, Dysphagia |
ORPHA:397744 |
| Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Sacral dimple, Broad hallux, Hand polydactyly, Broad thumb |
OMIM:239710 |
| Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Aggr... |
ORPHA:909 |
| Cri-Du-Chat Syndrome |
|
Syndactyly, Short metacarpal, Single transverse palmar crease, Short neck, Metatarsus adductus, S... |
OMIM:123450 |
| Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity |
OMIM:619026 |
| Juvenile Glaucoma |
|
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... |
ORPHA:98977 |
| Pettigrew Syndrome |
|
Aggressive behavior, Optic atrophy, Gait ataxia, Choreoathetosis, Self-injurious behavior, Stereo... |
OMIM:304340 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Ataxia, Abnormal circulating cholesterol concentration, Dementia, Pseudobulbar... |
OMIM:213700 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Narrow chest, Abnormality of the wrist, Elbow ankylosis, Abn... |
ORPHA:95699 |
| Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Patellar aplasia, Limitation of joint mobility, Abnormal rib... |
ORPHA:96061 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta |
ORPHA:1514 |
| Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Hyp... |
OMIM:311900 |
| Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Pain insensitivity, Somatic sensory dysfunction, Hyperactivity, Impulsivity, Impaire... |
ORPHA:642 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Short long bone, Apl... |
ORPHA:2256 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
| Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Optic atrophy, Renal tubular dysfunction, P... |
ORPHA:436271 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... |
ORPHA:2970 |
| Wolfram Syndrome 2 |
|
Neurogenic bladder, Optic atrophy, Optic neuropathy, Depression |
OMIM:604928 |
| Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
| Joubert Syndrome 8 |
|
Optic disc pallor, Ataxia, Pigmentary retinopathy, Hepatomegaly |
OMIM:612291 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Optic neu... |
OMIM:610505 |
| Microphthalmia, Lenz Type |
|
Abnormal clavicle morphology, Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Kyphosis... |
ORPHA:568 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Short neck, Pectus ex... |
OMIM:613458 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Wide cranial sutures, Crumpled long bones, Rhizomelia, Recurr... |
OMIM:610682 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Overlapping toe, Pectus excavatum, Long fingers, Cutaneous syndactyly, Scoliosis, Overl... |
OMIM:618316 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the ... |
ORPHA:1834 |
| Endocrine-Cerebroosteodysplasia |
|
Barrel-shaped chest, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Si... |
OMIM:612651 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy |
OMIM:611490 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Knee flexion contractur... |
ORPHA:3103 |
| Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Short neck, Kyphosis, Preaxial hand polydactyly, Abno... |
ORPHA:261318 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Akinesia |
OMIM:619147 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypomethioninemia, Hyperhomocystinemia, Lethargy, Delirium, Retinal degeneration, Ketonuria, Atax... |
ORPHA:79282 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Generalized dystonia, Urinary incontinence, Optic atrophy, Dysmetria, Enuresis nocturna, Pollakis... |
ORPHA:171629 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Optic atrophy |
OMIM:615419 |
| Fg Syndrome Type 1 |
|
Limited elbow extension and supination, Sacral dimple, Finger syndactyly, Progressive flexion con... |
ORPHA:93932 |
| Multifocal Motor Neuropathy |
|
Motor conduction block |
ORPHA:641 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Ataxia, Progressive neurologic deterioration, Tremor, Unsteady gait, Optic atr... |
OMIM:614947 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Neurogenic bladder, Ataxia, Tremor, Dysmetria |
OMIM:618527 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Diabetes mellitus, Ataxia, Postaxial polydactyly, Postaxial hand polydactyly, Insulin... |
OMIM:209900 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Optic atrophy, Chorioretinal atrophy, Stage 5 chr... |
OMIM:619487 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Optic disc pallor, Ketonuria, Ataxia, Lacticaciduria, Dystonia, Left ventricular hy... |
OMIM:619167 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Ketonuria, Elevated circula... |
ORPHA:480864 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Pectus excavatum, Hemivertebrae, Scoliosis, Cubitus valgus |
OMIM:104350 |
| Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Hyperactivity, Hypospadias, Abnormal optic disc morphology, Micropenis |
OMIM:617516 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Paresthes... |
ORPHA:298 |
| Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, Progressive cerebell... |
ORPHA:276244 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Short neck, Small hand, Short... |
ORPHA:1001 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Short neck, Sandal gap, De... |
OMIM:614800 |
| Joubert Syndrome 1 |
|
Optic disc pallor, Hyperactivity, Retinal dystrophy, Ataxia, Aggressive behavior, Optic disc colo... |
OMIM:213300 |
| Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Pectus excavatum, Abnormal 5th finger morphology, Symphalangism... |
ORPHA:1439 |
| Myoclonic-Astatic Epilepsy |
|
Syndactyly, Unsteady gait, Ataxia |
ORPHA:1942 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Ankle flexion contracture, Tapered finger, Kn... |
ORPHA:435938 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Optic atrophy, Gait disturbance, Difficulty walking,... |
ORPHA:90321 |
| Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho... |
ORPHA:3378 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Neurogenic bladder, Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Urinary... |
ORPHA:496641 |
| Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Osteoporosis, Scoliosis, Lethargy, Clinodactyly |
ORPHA:2169 |
| Amish Lethal Microcephaly |
|
Irritability, Organic aciduria, Optic atrophy, Hepatomegaly |
ORPHA:99742 |
| Hamamy Syndrome |
|
Osteopenia, Syndactyly, Long toe, Down-sloping shoulders, Recurrent fractures, Craniosynostosis, ... |
OMIM:611174 |
| 19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Deep pal... |
ORPHA:254346 |
| Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Delayed skeletal maturation, Limitation of joint mobility,... |
ORPHA:3255 |
| Familial Renal Glucosuria |
|
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria |
ORPHA:69076 |
| Cole Disease |
|
Punctate palmoplantar hyperkeratosis, Hyperglycemia, Palmoplantar keratoderma |
OMIM:615522 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Inability to walk, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephr... |
OMIM:617913 |
| Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Insulin resistance, Insulin-resistant diabetes mellitus... |
ORPHA:2298 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Congenital bilateral hip dislocation, Syndactyly |
ORPHA:404451 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Ataxia, Central Y-shaped metacarpal, Preaxial polydactyly, Fin... |
ORPHA:2754 |
| Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Inability to walk, Optic atrophy |
OMIM:615663 |
| Radio-Renal Syndrome |
|
Micromelia, Short neck, Abnormality of the elbow, Abnormal rib morphology, Hypoplasia of the radi... |
ORPHA:3015 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy, Stage 5 chronic kidney... |
OMIM:268315 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysmetria, EEG abnormality, Decr... |
ORPHA:456312 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Sandal gap, Broad hallux, 2-3 toe syndactyly, Cutaneous syndactyly, Short 5th f... |
OMIM:600987 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
| X Small Rings |
|
Joint laxity, Toe syndactyly, Short neck, Tapered finger, Osteoporosis, 2-3 toe syndactyly, Upper... |
ORPHA:96201 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Pectus excavatum, Short thumb, Hy... |
OMIM:263750 |
| Chediak-Higashi Syndrome |
|
Decreased nerve conduction velocity, Ataxia, Gait disturbance |
OMIM:214500 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Ataxia, Aganglionic megacolon, Short-segment aganglionic meg... |
OMIM:609136 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
| Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Pectus excavatum, Kyphosis, Narrow... |
ORPHA:193 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Diabetes mellitus, Impaired glucose tolerance, Rickets, Fas... |
ORPHA:2088 |
| 3C Syndrome |
|
Finger syndactyly, Missing ribs, Short neck, Kyphosis, Hemivertebrae, Hand polydactyly, Scoliosis... |
ORPHA:7 |
| Gaucher Disease, Perinatal Lethal |
|
Akinesia, Dysphagia |
OMIM:608013 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Optic atrophy, Tip-to... |
ORPHA:99956 |
| Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Short neck, Narrow chest, Short palm, Tracheomalacia, Cl... |
OMIM:217980 |
| Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Limitation o... |
ORPHA:93260 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Delayed skeletal maturation, Abnormal rib morphology, Abnormal form of th... |
ORPHA:52 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Brachydactyly, Craniosynostosi... |
ORPHA:794 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... |
ORPHA:2519 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Retinopathy |
OMIM:616811 |
| Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
| Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Clubbing o... |
ORPHA:783 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Syndactyly, Pectus excavatum, Broad palm, Clinodactyly of the 5th finger, Joint hypermobility |
OMIM:618505 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly |
ORPHA:313781 |
| Biotinidase Deficiency |
|
Hepatomegaly, Ataxia, Splenomegaly, Optic atrophy, Hyperammonemia, Organic aciduria, Lethargy |
OMIM:253260 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity |
OMIM:619851 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Syndactyly, Sacral dimple, Prominent metopic ridge, Ulnar deviation of the wri... |
OMIM:605039 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Joint hyperflexibility, Hand polydactyly, Foot polydactyly |
ORPHA:60040 |
| Tarp Syndrome |
|
Finger syndactyly, Broad-based gait, Single transverse palmar crease, Rocker bottom foot, Postaxi... |
ORPHA:2886 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Dystonia, Ataxia, Segmental peripheral demyelination/remyelination, Low plasma citr... |
ORPHA:255210 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Short neck, Limitation ... |
ORPHA:178303 |
| Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Broad cl... |
OMIM:304150 |
| Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,... |
OMIM:613843 |
| Alkuraya-Kucinskas Syndrome |
|
Overlapping fingers, Overlapping toe, Cutaneous syndactyly, Talipes equinovarus, Camptodactyly, H... |
OMIM:617822 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly |
OMIM:619736 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Optic atrophy, Renal tubular dysfunction, P... |
OMIM:220110 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Pectus excavatum, Kyphosis, Asymmetry of the thorax, Scoliosis, Genu varum |
ORPHA:1969 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Papilledema, Elevated circulating creatinine concentration, Hyper... |
OMIM:620366 |
| Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Short thorax,... |
ORPHA:261344 |
| Lethal Congenital Contracture Syndrome 5 |
|
Decreased nerve conduction velocity, EEG with burst suppression |
OMIM:615368 |
| Constricting Bands, Congenital |
|
Syndactyly, Abnormal rib cage morphology, Hand polydactyly, Talipes equinovarus, Scoliosis |
OMIM:217100 |
| Dend Syndrome |
|
Clinodactyly of the 4th finger, Prominent metopic ridge, Hyperglycemia |
ORPHA:79134 |
| Grange Syndrome |
|
Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Brac... |
OMIM:602531 |
| Prader-Willi Syndrome |
|
Osteopenia, Syndactyly, Kyphosis, Acromicria, Osteoporosis, Small hand, Narrow palm, Genu valgum,... |
OMIM:176270 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
| Scheie Syndrome |
|
Abnormal nerve conduction velocity |
ORPHA:93474 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Ataxia, Polydactyly, Complete duplication of thumb phalanx, Short phalanx of f... |
ORPHA:59315 |
| Choreoacanthocytosis |
|
Chorea, Compulsive behaviors, Loss of ambulation, Decreased amplitude of sensory action potential... |
ORPHA:2388 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Osteopenia, Syndactyly, Brachydactyly, Proximal placement of thumb, Talipes equinovarus, Short di... |
OMIM:615789 |
| Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux |
OMIM:263630 |
| Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Pec... |
OMIM:272950 |
| Opitz-Kaveggia Syndrome |
|
Syndactyly, Sacral dimple, Lumbar hyperlordosis, Multiple joint contractures, Single transverse p... |
OMIM:305450 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Dystonia, Ataxia, Head titubation, Optic atrophy, Dysmetria, Dysphagia, Intention tremor |
OMIM:619708 |
| Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysesthesia, Impaired propriocep... |
ORPHA:79138 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology |
ORPHA:1145 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Hypoplasia of the radius |
ORPHA:246 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Epi... |
OMIM:616959 |
| Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Abnormal retinal vascular morphology, Optic atro... |
ORPHA:3205 |
| Vacterl/Vater Association |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Abnormal s... |
ORPHA:887 |
| Mosaic Trisomy 16 |
|
Syndactyly, Single transverse palmar crease, Maternal diabetes, Short thumb, Abnormal thorax morp... |
ORPHA:1708 |
| Blepharonasofacial Malformation Syndrome |
|
Joint hyperflexibility, Finger syndactyly |
ORPHA:1252 |
| Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
| Acrocardiofacial Syndrome |
|
Joint dislocation, Finger syndactyly, Hallux valgus, Toe syndactyly, Camptodactyly of finger, Spl... |
ORPHA:2008 |
| Cockayne Syndrome Type 3 |
|
Progressive neurologic deterioration, Retinal degeneration, Intention tremor, Hepatomegaly, Retin... |
ORPHA:90324 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Small hand, Short f... |
ORPHA:488434 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Narrow joint spaces of the elbow, Syndactyly, Delayed closure of the anterior fontanelle, Delayed... |
ORPHA:96182 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Prominent metopic ridge, Overlapping toe, Single transverse palmar crease, Tapered finger, Short ... |
OMIM:619148 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
| Cockayne Syndrome |
|
Urinary incontinence, Progressive gait ataxia, Retinal arteriolar constriction, Retinal degenerat... |
ORPHA:191 |
| Isolated Complex I Deficiency |
|
Increased serum pyruvate, Optic disc pallor, Hepatomegaly, Ataxia, Optic neuropathy, Proximal tub... |
ORPHA:2609 |
| Hurler Syndrome |
|
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Limitation of joint mobility, ... |
ORPHA:93473 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Toe syndactyly, Arachnodactyly, Short palm |
ORPHA:73246 |
| Necrotizing Enterocolitis |
|
Lethargy, Hyperglycemia, Abnormal glucose homeostasis |
ORPHA:391673 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Pineoblastoma |
|
Papilledema, Progressive neurologic deterioration, Cognitive impairment, Memory impairment, Retin... |
ORPHA:251909 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia, Osteoporosis |
OMIM:615954 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Kyphosis, Delayed skeletal ... |
ORPHA:2658 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Long clavicles, Arachnodactyly, Single transverse palmar crease, Overlapping toe, Contracture of ... |
ORPHA:83617 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Prominent metopic ridge, Neonatal insulin-dependent diabetes mellitus, Ataxia, Lower-limb joint c... |
ORPHA:99885 |
| Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Hyperactivity, Short attention span, Hepatomega... |
ORPHA:580 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Facial palsy, Anorexia, Paucity of anterior horn motor... |
ORPHA:79139 |
| Blepharocheilodontic Syndrome 1 |
|
Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
| Cerebrofacioarticular Syndrome |
|
Osteopenia, Syndactyly, Ataxia, Talipes equinovarus, Camptodactyly, Tracheomalacia, Caudal appendage |
ORPHA:314679 |
| Arthrogryposis Multiplex Congenita 5 |
|
Optic disc pallor, Akinesia |
OMIM:618947 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Chédiak-Higashi Syndrome |
|
Somatic sensory dysfunction, Ataxia, Decreased nerve conduction velocity, Inability to walk, Gait... |
ORPHA:167 |
| Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Short neck, Absent thumb, Short thumb, Ulnar ... |
OMIM:263650 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
| Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Abnormal palmar dermatoglyphics, Camptodactyly of finger, Spli... |
ORPHA:2092 |
| Wolfram Syndrome |
|
Ataxia, Dysuria, Optic atrophy, Dementia, Abnormal autonomic nervous system physiology, Nephropat... |
ORPHA:3463 |
| 19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Toe clinodactyly, Clinodactyly of ... |
ORPHA:217346 |
| Triploidy |
|
Finger syndactyly, Decreased skull ossification, Narrow chest, Short neck |
ORPHA:3376 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Choroidal neovascularization, Optic neuropathy, Retinal cryst... |
OMIM:259900 |
| Arima Syndrome |
|
Hepatomegaly, Retinal dystrophy, Ataxia, Proteinuria, Polyuria, Optic atrophy, Stage 5 chronic ki... |
OMIM:243910 |
| Incontinentia Pigmenti |
|
Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Osteolysis, Absent hand, De... |
ORPHA:464 |
| Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Arthrogryposis multiplex congenita, Hip dysplasia, Flexion contracture |
ORPHA:440713 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
| African Trypanosomiasis |
|
Papilledema, Somatic sensory dysfunction, Akinesia, Aggressive behavior, Impaired proprioception,... |
ORPHA:3385 |
| Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature |
|
Broad-based gait, Optic atrophy |
OMIM:609037 |
| Biotinidase Deficiency |
|
Ataxia, Optic neuropathy, Optic atrophy, Hyperammonemia, Organic aciduria, Lethargy |
ORPHA:79241 |
| Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck |
ORPHA:1780 |
| Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Maternal diabetes, Short neck, Humeroradial synostosis, Abnormal... |
ORPHA:3404 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Short neck, Kyphosis, Mesomelia, Scoliosis, Camptodactyly, Clinodactyl... |
OMIM:616894 |
| Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Ataxia, Hypoglycemia |
ORPHA:134 |
| Timothy Syndrome |
|
Hypoglycemia, Cutaneous syndactyly |
OMIM:601005 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Facial diplegia |
OMIM:618186 |
| Chops Syndrome |
|
Tracheomalacia, Cervical C2/C3 vertebral fusion, Brachydactyly |
OMIM:616368 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Ataxia, Optic atrophy, Abnormal autonomic nervous system physiology, Mot... |
OMIM:231550 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Posterior rib fusion, Butterfly vertebrae |
OMIM:265380 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Tracheomalacia, Cer... |
ORPHA:444077 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Finger clinodacty... |
ORPHA:79474 |
| Adams-Oliver Syndrome |
|
Finger syndactyly, Brachydactyly, Absent toe, Split hand, Absent hand, Abnormality of the upper l... |
ORPHA:974 |
| 7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Hypospadias, Unilateral renal agenesis, Aggressive behavior, Unstea... |
ORPHA:96121 |
| Joubert Syndrome 21 |
|
Ataxia, Splenomegaly, Optic atrophy, Megalopapilla, Renal cyst, Dysphagia, Retinopathy |
OMIM:615636 |
| Monosomy 9Q22.3 |
|
Accelerated skeletal maturation, Short neck, Kyphosis, Pectus excavatum, Palmar pits, Abnormal ri... |
ORPHA:77301 |
| Xq21 Microdeletion Syndrome |
|
Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Reticular pigmentary degen... |
ORPHA:1435 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Pigmentary retinopathy, Retinal dysplasia, Optic atrophy, Elevated circulating creatine kinase co... |
OMIM:613154 |
| Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Short neck, Postaxial hand polydacty... |
OMIM:619879 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Retinopathy, Optic atrophy, Confusion, Ataxia |
ORPHA:220295 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the pelvis, Abnormally ossified vertebrae, Abnormal rib morphology, ... |
ORPHA:3301 |
| Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Sacral dimple, Camptodactyly of finger, Micromelia, Short neck, Elbow dislocat... |
ORPHA:3107 |
| Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Pain insensitivity, Oral-pharyngeal dysphagia, Chorea, Dysmetria, Athetosis, Impair... |
OMIM:615273 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia |
OMIM:615453 |
| Cranioectodermal Dysplasia 2 |
|
Joint laxity, Syndactyly, Rhizomelia, Craniosynostosis, Short neck, Pectus excavatum, Postaxial h... |
OMIM:613610 |
| Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Flexion contracture, Hypoplastic iliac wing, Prominent fingertip... |
OMIM:180849 |
| Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Short neck, Scoliosis |
OMIM:616038 |
| Aspergillosis |
|
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology, Oste... |
ORPHA:1163 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Decreased compound muscle action potential amplitude |
OMIM:620080 |
| Friedreich Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Abnormality of peripheral nerve conduction |
OMIM:601992 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia |
ORPHA:681 |
| Rabson-Mendenhall Syndrome |
|
Impaired glucose tolerance, Insulin resistance, Delayed skeletal maturation, Fasting hyperinsulin... |
ORPHA:769 |
| Cockayne Syndrome A |
|
Ataxia, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, ... |
OMIM:216400 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Ataxia, Joint stiffness, Avascular necrosis of the capital femoral ... |
ORPHA:581 |
| Primary Hyperoxaluria |
|
Hyperoxaluria, Optic disc pallor, Choroidal neovascularization, Aciduria, Calcium oxalate nephrol... |
ORPHA:416 |
| Autosomal Recessive Spastic Paraplegia Type 55 |
|
Decreased sensory nerve conduction velocity, Optic atrophy, Optic neuropathy, Distal sensory impa... |
ORPHA:320375 |
| Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Optic atrophy, Renal cyst, Rod-cone dystrophy |
OMIM:601539 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Adactyly, Split hand, Aplasia/Hypoplasia of fingers, Upper limb... |
ORPHA:989 |
| Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Ataxia, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postaxial han... |
ORPHA:2750 |
| Myhre Syndrome |
|
Brachydactyly, Joint stiffness, Abnormal rib morphology, Platyspondyly, Abnormal epiphysis morpho... |
ORPHA:2588 |
| Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Preaxi... |
OMIM:192350 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Short long bone, Bilateral ta... |
OMIM:306955 |
| Bardet-Biedl Syndrome |
|
Finger syndactyly, Postaxial hand polydactyly, Short neck |
ORPHA:110 |
| Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:585 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
| Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Cutaneous syndactyly |
ORPHA:2890 |
| Loeys-Dietz Syndrome 2 |
|
Joint laxity, Syndactyly, Brachydactyly, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, P... |
OMIM:610168 |
| Fuchs Heterochromic Iridocyclitis |
|
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor... |
ORPHA:263479 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Pectus carinatum |
OMIM:616430 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
2-3 toe cutaneous syndactyly, Flexion contracture, 3-4 finger cutaneous syndactyly, Cutaneous syn... |
OMIM:620029 |
| Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
| Cockayne Syndrome B |
|
Decreased nerve conduction velocity, Optic atrophy, Ataxia, Abnormal auditory evoked potentials |
OMIM:133540 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Mesomelia |
ORPHA:1908 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Short neck, Camptodactyly, Absent palmar crease |
OMIM:614230 |
| Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Rhizomelia, Proximal placement of thumb, Short neck, Kyphosis, Postaxial hand ... |
ORPHA:818 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Short tibia, Adactyly, Broad first metatarsal, Postaxial hand po... |
ORPHA:2751 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Congenital stationary night blindness, Abnormal optic disc morphology, Micropenis |
ORPHA:293967 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Hyperlordosis, Palmoplantar hyperkeratosis, Bilateral single t... |
ORPHA:3253 |
| Microphthalmia With Brain And Digit Anomalies |
|
Postaxial foot polydactyly, Finger syndactyly, Proximal placement of thumb |
ORPHA:139471 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
| Acromelic Frontonasal Dysostosis |
|
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... |
OMIM:603671 |
| Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Missing ribs, Short neck, Short toe, Hip... |
ORPHA:2308 |
| Bardet-Biedl Syndrome 20 |
|
Papilledema, Proteinuria, Retinal vascular tortuosity, Hypercholesterolemia, Micropenis, Rod-cone... |
OMIM:619471 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Short foot, Joint hyperflexibility, Clinodactyly of th... |
ORPHA:1974 |
| Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn... |
ORPHA:2473 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Palmoplantar hyperkeratosis,... |
ORPHA:2907 |
| Elsahy-Waters Syndrome |
|
Pectus excavatum, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Cervical C... |
OMIM:211380 |
| 14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Delayed skeletal maturation, Short foot, Short palm, Clinodact... |
ORPHA:264200 |
| Pyruvate Carboxylase Deficiency |
|
Hyperglycemia, Tip-toe gait, Ataxia, Hypoglycemia |
ORPHA:3008 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Aplastic clavicle, Elbow dislocation, Delayed skeletal... |
ORPHA:2554 |
| Wilson Disease |
|
Decreased nerve conduction velocity, Hypoesthesia, Dysphagia |
OMIM:277900 |
| Monosomy 22 |
|
Finger syndactyly, Single transverse palmar crease, Short neck, Clubbing, Contractures of the lar... |
ORPHA:96123 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, 2-3 toe syndactyly, Coronal cleft vertebrae, Talipes equinov... |
OMIM:620025 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short neck, Abnormal metacarpal morphology, Absent pa... |
ORPHA:284160 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia |
ORPHA:90065 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Single transverse palmar cr... |
OMIM:216340 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Abn... |
ORPHA:353281 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly |
ORPHA:66629 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Elevated circulat... |
ORPHA:91500 |
| Trisomy 18 |
|
Camptodactyly of finger, Delayed skeletal maturation, Postaxial hand polydactyly, Abnormal rib mo... |
ORPHA:3380 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Syndactyly, Scapular winging, Short metacarpal, Thoracolumbar scoliosis, Single trans... |
OMIM:150230 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly |
OMIM:616028 |
| Acrocallosal Syndrome |
|
Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifid distal pha... |
OMIM:200990 |
| D-Bifunctional Protein Deficiency |
|
Decreased nerve conduction velocity |
OMIM:261515 |
| Fanconi-Bickel Syndrome |
|
Osteomalacia, Rickets, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia |
OMIM:227810 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Bone pain, Abnormal rib morpholo... |
ORPHA:667 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
| Monosomy 9P |
|
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Postaxial hand polydact... |
ORPHA:261112 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Finger syndactyly, Sacral dimple, Broad hallux phalanx, Preaxial hand polydactyly, Broad thumb, D... |
ORPHA:2211 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Renal insufficiency, Retinal dystrophy, Hypospadias, Subretinal deposits, Renal cortical cysts, A... |
ORPHA:397715 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly |
OMIM:614520 |
| Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus |
OMIM:615710 |
| Leptospirosis |
|
Papilledema, Hepatomegaly, Anorexia, Cellular urinary casts, Retinal hemorrhage, Chorioretinitis,... |
ORPHA:509 |
| Lacrimoauriculodentodigital Syndrome |
|
Finger syndactyly, Syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... |
ORPHA:2363 |
| Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Reduced bone mineral density, Abnormality of the upper limb, S... |
ORPHA:1556 |
| Bloom Syndrome |
|
Clinodactyly of the 5th finger, Syndactyly, Hand polydactyly, Type II diabetes mellitus |
OMIM:210900 |
| Peters-Plus Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Short neck, Proximal placement of thumb,... |
OMIM:261540 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus |
OMIM:151660 |
| Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Palmopl... |
ORPHA:2908 |
| Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ... |
ORPHA:79098 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma |
OMIM:129400 |
| Fanconi Anemia |
|
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Abnormal ... |
ORPHA:84 |
| Craniofacial Microsomia 1 |
|
Block vertebrae, Partial duplication of thumb phalanx, Hemivertebrae, Genu valgum, Cervical ribs,... |
OMIM:164210 |
| Meckel Syndrome, Type 1 |
|
Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Short neck,... |
OMIM:249000 |
| Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Split foot |
ORPHA:978 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Recurrent hypoglycemia, Ataxia, Hypoglycemia, Hyperglycemia |
OMIM:124000 |
| Dextrocardia |
|
Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology |
ORPHA:100070 |
| Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig... |
ORPHA:69085 |
| Doors Syndrome |
|
11 pairs of ribs, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagittal craniosynostosis, ... |
ORPHA:79500 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature, Cran... |
ORPHA:1521 |
| Orofaciodigital Syndrome I |
|
Syndactyly, Short 2nd toe, Polydactyly, Radial deviation of finger, Clinodactyly, Brachydactyly |
OMIM:311200 |
| Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Short neck, Long fingers, Clin... |
OMIM:256520 |
| Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Proximal placement of thumb, ... |
ORPHA:1896 |
| Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica... |
ORPHA:51608 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent fractures, Osteomalacia, Joint stiffness, Kyphosis, Hip dislocation, Abnormal rib morph... |
ORPHA:534 |
| Dubowitz Syndrome |
|
Syndactyly, Sacral dimple, Single transverse palmar crease, Delayed skeletal maturation, Clinodac... |
OMIM:223370 |
| Fraser Syndrome 2 |
|
Short thorax, Cutaneous syndactyly, Short neck |
OMIM:617666 |
| Mckusick-Kaufman Syndrome |
|
Syndactyly, Postaxial hand polydactyly, Congenital hip dislocation, Mesoaxial hand polydactyly |
OMIM:236700 |
| Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... |
ORPHA:857 |
| Roberts-Sc Phocomelia Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Craniosynostosis, Ankle flexion contracture, S... |
OMIM:268300 |
| Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Macrodactyly, Craniosynostosis, Joint stiffness, Metatarsus val... |
ORPHA:744 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short neck, Clinodactyly of the 5th finger, B... |
ORPHA:1587 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Lumbar hyperlordosis, Hip dysplasia, Scoliosis, Clinodactyly of the 5th finger |
OMIM:616975 |
| Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Finger syndactyly, Camptodactyly of finger, Micromelia, Preaxial hand polydact... |
ORPHA:2753 |
| Degcags Syndrome |
|
Osteopenia, Syndactyly, Sacral dimple, Toe syndactyly, Craniosynostosis, Short thumb, Delayed ske... |
OMIM:619488 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly |
OMIM:224120 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Joint laxity, Syndactyly, Broad hallux, Deviation of the hallux, Avascular necrosis of the capita... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Joint laxity, Syndactyly, Broad hallux, Deviation of the hallux, Avascular necrosis of the capita... |
ORPHA:353277 |
| Coffin-Siris Syndrome 12 |
|
Joint laxity, Pectus excavatum, Short thumb, Slender finger, Cutaneous syndactyly, Ridged cranial... |
OMIM:619325 |
| Thyrotoxic Periodic Paralysis |
|
Abnormality of peripheral nerve conduction |
ORPHA:79102 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hyperglycemia, Diabetes mellitus, Cervical ribs, Glycosuria |
OMIM:600001 |
| Scorpion Envenomation |
|
Hyperglycemia, Ataxia, Glycosuria |
ORPHA:466677 |
| Hennekam Syndrome |
|
Finger syndactyly, Narrow chest, Camptodactyly of finger, Craniosynostosis |
ORPHA:2136 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, B... |
ORPHA:261537 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ataxia, Hypoglycemia, Dysmetria, Truncal ataxia, Hyperglycemia |
OMIM:220111 |
| Leprechaunism |
|
Insulin resistance, Hyperinsulinemia, Large hands, Recurrent infantile hypoglycemia, Fasting hypo... |
ORPHA:508 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperglycemia, Brachydactyly, Scoliosis, Accelerated skeletal maturation |
ORPHA:293987 |
| Microphthalmia, Syndromic 1 |
|
Prominent fingertip pads, Syndactyly, Lumbar hyperlordosis, Down-sloping shoulders, Kyphoscoliosi... |
OMIM:309800 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Decreased nerve conduction velocity, Paresthesia, Depression |
ORPHA:285 |
| Fontaine Progeroid Syndrome |
|
Syndactyly, Craniosynostosis, Delayed skeletal maturation, Platyspondyly, Deep palmar crease, Abs... |
OMIM:612289 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Broad-based gait, Sandal gap, Short neck, Long fingers, Cutaneous syndactyly, Toe c... |
OMIM:620330 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Pectus excavatum, Short toe, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:1519 |
| Charge Syndrome |
|
Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Bifid femur, Abnormality of bo... |
ORPHA:138 |
| Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... |
OMIM:118450 |
| Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly, Clinodactyly of the 5th f... |
OMIM:181270 |
| Mowat-Wilson Syndrome |
|
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Recurrent fractur... |
ORPHA:2152 |
| Fraser Syndrome 3 |
|
Short toe, Cutaneous syndactyly |
OMIM:617667 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Kyphoscoliosis, Joint stiffness |
OMIM:618820 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, B... |
ORPHA:261552 |
| Hartsfield Syndrome |
|
Syndactyly, Ectrodactyly, Craniosynostosis |
OMIM:615465 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Absent radius, S... |
OMIM:214800 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Palmoplantar keratoderma |
ORPHA:1071 |
| Neurocardiofaciodigital Syndrome |
|
Syndactyly, Polydactyly |
OMIM:619869 |
| Fraser Syndrome |
|
Finger syndactyly, Vertebral segmentation defect, Toe syndactyly, Wide pubic symphysis |
ORPHA:2052 |
| Pagod Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:991 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Syndactyly, Postaxial polydactyly, Broad first metatarsal, Knee dislocation, Polydact... |
OMIM:619534 |
