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Gene: Csf1r MGI:1339758

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Gene Summary

Name:
colony stimulating factor 1 receptor
Synonyms:
Fim2,  CSF-1R,  Csfmr,  M-CSFR,  Fms,  CD115,  Fim-2

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Csf1rem3(IMPC)H HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

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MicroCT E18.5

Embryo reconstruction

4 Images

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Human diseases caused by Csf1r mutations

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

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

The table below shows human diseases associated to Csf1r by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Corpus callosum atrophy, Rigidity, Mental deterioratio... OMIM:221820
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Tented upper lip vermilion, Increased skull ossification, Metaphyseal widening, Craniofacial oste... OMIM:618476

The table below shows human diseases predicted to be associated to Csf1r by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Basal ganglia calcification, Axonal loss, Inappropriate behavior, Gliosis, Gait ... OMIM:221770
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... ORPHA:53697
Mazabraud Syndrome
Fibrous dysplasia of the bones, Bone pain, Recurrent fractures ORPHA:57782
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Huntington Disease
Caudate atrophy, Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Abnormality of ... ORPHA:399
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Progressive leukoencephalopathy, Ataxia, Babinski sign, Hand tremor, Leukoenc... OMIM:615889
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem... OMIM:614877
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste... ORPHA:497764
Sclerosteosis
Finger syndactyly, Increased bone mineral density, Craniofacial hyperostosis, 2-3 finger syndacty... ORPHA:3152
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated ner... OMIM:302800
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Babinski sign, Mental deterioration, Gait ataxia, Dysphagia, Loss of ambula... OMIM:249900
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... ORPHA:2790
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Delayed CNS myelination, Ataxia, Prominent nasal bridge, Reduced cerebral white matter volume, Pr... OMIM:620317
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Decreased number of lar... OMIM:614895
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Decreased number of large peripheral ... OMIM:208920
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Slurred speech, Clumsiness... ORPHA:2386
Krabbe Disease
Diffuse cerebral atrophy, Autoimmune thrombocytopenia, Hydrocephalus, Optic atrophy, Hypertonia, ... OMIM:245200
Spastic Paraplegia 55, Autosomal Recessive
Lower limb spasticity, Peripheral axonal neuropathy, Impaired distal vibration sensation, Optic a... OMIM:615035
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... OMIM:214400
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:607734
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebellar atrophy, Lower limb spasticity, Ataxia, Progressive neurologic deterioration, Megalenc... OMIM:613925
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Degenerati... OMIM:604360
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Increased bone mineral density, Pancytopenia, Femur fracture, Osteomyelitis, Cranio... OMIM:259700
Eiken Syndrome
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... ORPHA:79106
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Somatic sensory dysfunction, Steppage gait, Onion bulb formation, P... OMIM:620378
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab... ORPHA:2204
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Impaired vibratory sensation, Impaired pain sensation, Distal sensory impairment, Steppage gait, ... OMIM:615185
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... ORPHA:166277
Familial Expansile Osteolysis
Bowing of the long bones, Bone pain, Osteolysis, Pathologic fracture, Thin bony cortex OMIM:174810
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Ataxia, Segmental peripheral demyelination/remyelination, Hypoesthesia, Gai... OMIM:601098
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... OMIM:166260
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Steppage gait, Diffi... OMIM:606483
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Confusion, Tremor, Babinski sign, Gait atax... OMIM:615362
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract... OMIM:259710
Alg13-Cdg
Abnormal lateral ventricle morphology, Anteverted nares, Clumsiness, Cognitive impairment, Global... ORPHA:324422
Hereditary Sensory And Autonomic Neuropathy Type 2
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... ORPHA:970
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Tetrapl... OMIM:604484
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Impaired vibratory sensation, Impaired distal proprioception, Imp... ORPHA:101097
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Ataxia, Microcephaly, Dysplastic corpus callosum, Inability to walk, Tongue f... OMIM:618276
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Dysesthesia, Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Impaired oropharynge... ORPHA:98916
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Impaired distal vibration sensation, Babinski sign, Hand tremor, Distal ... OMIM:618279
Neurodegeneration With Brain Iron Accumulation 6
Motor tics, Rigidity, Mental deterioration, Spastic tetraplegia, Depression, Bradykinesia, Tip-to... OMIM:615643
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Dysmyelinating leukodyst... OMIM:612319
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Babinski sign, Spastic gait, Limb tremor, Difficulty walking, Abnormal mye... ORPHA:401820
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Unsteady gait, Sen... ORPHA:2932
Autosomal Spastic Paraplegia Type 58
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... ORPHA:397946
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Delayed epiphyseal ossification, R... OMIM:600785
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Osteopenia, Recurrent fractures OMIM:619884
Lissencephaly 4
Babinski sign, Wide nasal bridge, Simplified gyral pattern, Colpocephaly, Hypertonia, Lissencepha... OMIM:614019
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Upper limb postural... OMIM:180800
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Impaired distal vibration sensation, Axonal degeneration, Distal ... OMIM:614436
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Schizencephaly, Microcephaly, Cortical dysplasia, Oromotor apraxia, Dysgenesi... ORPHA:300573
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Ataxia, Chorea, Axonal degeneration, Babinski sign, Cerebral atro... OMIM:604168
Osteoglosphonic Dysplasia
Severe short stature, Failure to thrive in infancy, Rhizomelia, Craniosynostosis, Micrognathia, C... ORPHA:2645
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Wide nose, Abnormal lateral ventricle morphology, Depressed nasal bridge, Sev... ORPHA:488635
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Symmetric peripheral demyelination, Demyelinating motor neuropathy, ... ORPHA:206594
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia OMIM:615085
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Ataxia, Impulsivity, Cerebral atrophy, Ir... OMIM:614116
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Symmetric peripheral demyelination, Progressive neurologic deterioration, Corpus callosum... OMIM:169500
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Onion bulb formation, Distal sensory impairment OMIM:616039
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... OMIM:619795
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals... OMIM:118210
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom... ORPHA:210110
Monosomy 5P
Finger syndactyly, Recurrent fractures, Small hand, Joint hyperflexibility, Abnormality of bone m... ORPHA:281
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Genu valgum, Reduced bone mineral density, Limited e... OMIM:265900
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Tremor, Babinski sign, Optic atrophy, Dis... OMIM:609260
Stxbp1-Related Encephalopathy
Cerebral white matter atrophy, Hyperactivity, Ataxia, Tremor, Dysplastic corpus callosum, Delayed... ORPHA:599373
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Hepatomegaly, Recurrent fractures, Splenomegaly,... OMIM:611490
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Ataxia, Microcephaly, Hand tremor, Limb ataxia, Degeneration of a... OMIM:607596
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Broad-based gait, S... OMIM:145900
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration, Mental deterioration OMIM:610951
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene... OMIM:607677
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... ORPHA:98856
Null Syndrome
Ataxia, Inability to walk, Optic atrophy, CNS hypomyelination, Progressive spastic quadriplegia, ... ORPHA:280234
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal regeneration, Dista... OMIM:607731
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Corpus callosum atrophy, Rigidity, Mental deterioratio... OMIM:221820
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... OMIM:601596
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Abno... ORPHA:500166
Adult Krabbe Disease
Progressive neurologic deterioration, Hoffmann sign, Ataxia, Abnormal pyramidal tract morphology,... ORPHA:206448
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... OMIM:600002
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Postnatal growth retarda... OMIM:620366
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception ORPHA:231445
Autosomal Recessive Spastic Paraplegia Type 69
Lower limb spasticity, Hand tremor, Spastic dysarthria, Abnormal myelination, Agenesis of corpus ... ORPHA:401830
Metatropic Dysplasia
Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral ossification, Halberd-s... ORPHA:2635
Spinocerebellar Ataxia Type 25
Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Babinski s... ORPHA:101111
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Micrognathia, Hypocalcemia, Hepatomegaly, Increased bone mineral de... OMIM:259720
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxi... OMIM:226990
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Central Neurocytoma
Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Cerebral calcification, Hydroc... ORPHA:73256
Huntington Disease-Like 1
Restlessness, Incoordination, Aggressive behavior, Rigidity, Chorea, Unsteady gait, Dysmetria, De... OMIM:603218
Solitary Bone Cyst
Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Unicameral bone cyst, Lytic... ORPHA:83468
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures OMIM:615066
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Peripheral axonal neu... OMIM:607250
Cranio-Osteoarthropathy
Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation of finger... ORPHA:1525
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Impaired ... OMIM:607706
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Distal sensory impairment, Steppage gait, Dysphagia, Peripheral demyelination, Axonal degeneratio... OMIM:607736
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the... OMIM:130060
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Steppage gait,... OMIM:118200
Multiple Sulfatase Deficiency
Cerebellar atrophy, Anteverted nares, Ataxia, Splenomegaly, Hydrocephalus, Cerebral atrophy, Abno... OMIM:272200
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal sensory impairment, Axonal degeneration/regeneration, Segmental peripheral demyelination/r... OMIM:607791
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Peripheral axonal neuropathy, Impaired pain sensation, Distal senso... ORPHA:99953
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Anteverted nares, Absent septum pellucidum, Prominent nose, Microcephaly, Inability to walk, Bulb... OMIM:618492
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Cerebr... ORPHA:306669
Pontocerebellar Hypoplasia, Type 2D
Cerebellar atrophy, Appendicular spasticity, Clonus, Delayed myelination, Chorea, Spastic tetrapl... OMIM:613811
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... ORPHA:1310
Osteoglophonic Dysplasia
Osteopenia, Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... OMIM:166250
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Dep... OMIM:615157
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradyphrenia, Lower limb spasticity, Delayed CNS myelination, Broad-based gait, Ataxia, Short att... OMIM:617854
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Osteopetrosi... OMIM:607634
Grant Syndrome
Bowing of the long bones, Joint hyperflexibility, Abnormal pelvic girdle bone morphology, Abnorma... ORPHA:2097
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Waddling gait, Hypoesthesia, Unsteady gai... OMIM:609311
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Limitation of joint mobility, Slender long bone, Abnormal hip bone morpholog... ORPHA:1486
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of... OMIM:604213
Multiple Enchondromatosis, Maffucci Type
Pathologic fracture, Multiple enchondromatosis OMIM:614569
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... ORPHA:53
Neuromyelitis Optica Spectrum Disorder
Somatic sensory dysfunction, Neuronal loss in central nervous system, Peripheral demyelination, P... ORPHA:71211
Spastic Paraplegia 45, Autosomal Recessive
Lower limb spasticity, Dysplastic corpus callosum, Babinski sign, Spastic paraplegia, Optic atrop... OMIM:613162
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropeni... OMIM:614172
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Increased spinal bone density, Bone pain, Recurrent fractures ORPHA:329475
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Impaired distal vibration sensation, Steppage gait, Impaired distal... OMIM:610100
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:118220
Desmosterolosis
Low-set, posteriorly rotated ears, Increased bone mineral density, Severe short stature, Micromel... ORPHA:35107
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Optic atrophy, Distal sensory impairment, Gait ... OMIM:311070
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Abnormal pelvic girdle ... OMIM:610967
Ck Syndrome
Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility OMIM:300831
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Ataxia, Peripheral demyelination, Difficulty walking OMIM:616684
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Premature ovarian insufficiency ORPHA:75325
Caffey Disease
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... OMIM:114000
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Delayed CNS myelination, Incoordination, Ataxia, Clonus, Microcephaly, Hydroc... OMIM:616034
Osteomesopyknosis
Increased bone mineral density, Infertility OMIM:166450
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Osteoporosis, Elbo... OMIM:259450
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hand paresthesia, Hypoesthesia, Vocal cord paralysis, Segmental peripheral demyelination/remyelin... OMIM:162500
Osteogenesis Imperfecta, Type Xix
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Bow... OMIM:301014
Diastrophic Dysplasia
Proximal placement of thumb, Micrognathia, Micromelia, Symphalangism affecting the phalanges of t... ORPHA:628
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Severe short stature, Posteriorly rota... ORPHA:2780
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista... OMIM:608673
Cach Syndrome
Cerebellar atrophy, Dysphagia, Progressive neurologic deterioration, Microcephaly, Dysmyelinating... ORPHA:135
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... ORPHA:73
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp... OMIM:618986
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Dysphagia, Dysdiadochokinesis, Myoclonus, ... OMIM:614487
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc... ORPHA:2788
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Hypopigmentation of hair, Short stature, Splenomegaly, Growth delay, Osteopetrosis,... OMIM:618541
Autosomal Recessive Spastic Paraplegia Type 35
Dysmetria, Cognitive impairment, Oculomotor apraxia, Cerebellar atrophy, Spastic tetraparesis, Ba... ORPHA:171629
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Ventriculomegaly, Ataxia, Neuronal loss in basal ganglia, H... ORPHA:248111
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Resting tremor, A... OMIM:617225
Osteosclerotic Metaphyseal Dysplasia
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero... OMIM:615198
Metachromatic Leukodystrophy
Ataxia, Chorea, Babinski sign, Optic atrophy, Spastic tetraplegia, Tetraplegia, Abnormal cerebral... OMIM:250100
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... OMIM:600081
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Tongue thrusting, Lateral ventri... ORPHA:77299
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Osteopenia, Pathologic fracture, Bone cyst OMIM:618193
Spinocerebellar Ataxia 17
Diffuse cerebral atrophy, Chorea, Dysmetria, Gait ataxia, Gliosis, Intention tremor, Ataxia, Park... OMIM:607136
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Cerebral atrophy, Brain atrophy, Abnormal myelination, A... ORPHA:85179
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lewy bodies, Parkinsonism, Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexualit... OMIM:607485
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Axonal degeneration, Gait disturbance, Distal sensory impairment OMIM:616155
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation, Spastic p... OMIM:182815
Charcot-Marie-Tooth Disease, Type 4J
Distal sensory impairment, Axonal loss, Peripheral hypomyelination, Gait disturbance, Frequent fa... OMIM:611228
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairment, Steppage... OMIM:608340
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Steppage gait,... OMIM:605588
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Recurrent fractures, Delayed skeletal maturation, 2-3 toe syndactyly, Joint hyperflex... ORPHA:2324
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Increa... ORPHA:37748
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma... ORPHA:2688
Osteosarcoma
Abnormal femoral metaphysis morphology, Osteolysis, Abnormal tibial metaphysis morphology, Pathol... ORPHA:668
Pycnodysostosis
Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Micrognathia, Hy... ORPHA:763
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed skeletal maturation, Osteoporosis, Recurrent fractures, Reduced bone mineral density ORPHA:2410
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Micrognathia, Leukopenia, High palate, Hypoca... ORPHA:2785
Kleine-Levin Syndrome
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Hypersexuality, Sweet cravin... ORPHA:33543
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy DECIPHER:59
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Impaired vibration sensation at ank... ORPHA:90103
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent fractures, Eosinophilia, Craniosynostosis, Increased circulating IgE level,... OMIM:147060
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Sensorineural hearing impairment, Osteopetrosis, Conductive hearing im... ORPHA:1522
Diaminopentanuria
Spasticity, Neurodegeneration, Ataxia OMIM:222350
Bruck Syndrome 2
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... OMIM:609220
Superficial Siderosis
Enlarged sylvian cistern, Impaired temperature sensation, Abnormal pyramidal sign, Dysmetria, Pro... ORPHA:247245
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Cavitation of the basal ganglia, Tremor, Rigidity, Chorea, Babinski sign, S... OMIM:606159
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairmen... OMIM:605285
Flynn-Aird Syndrome
Alopecia, Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased... OMIM:136300
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Kufor-Rakeb Syndrome
Tremor, Hypertonia, Ataxia, Parkinsonism, Gait disturbance, Myoclonus, Torticollis, Aggressive be... OMIM:606693
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Osteomalacia, Bowing of the legs, Delay... OMIM:300554
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Posteriorly rotated ears, Short stature, Micrognathia, Congenital... OMIM:617306
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Gait disturbance, Peripheral demyelination, Distal sensory impairment ORPHA:99944
Congenital Disorder Of Glycosylation, Type Iiy
Delayed CNS myelination, Microcephaly, Thin corpus callosum, Atrophy/Degeneration affecting the b... OMIM:620200
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:604563
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, External genital hypoplasia, High, narrow palate, Epispadias, Abnormal fin... ORPHA:2658
Immunodeficiency 11A
Agammaglobulinemia, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decrease... OMIM:615206
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Microcephaly, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Thin... OMIM:252160
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Broad-based... OMIM:615490
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Delayed myelination, Axonal degeneration, Poor coordination, Subependymal cysts... ORPHA:478029
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Delayed skeletal maturation, Femoral bowing, Short 5th metacarpal, Short 4th metacarp... OMIM:619638
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... OMIM:617087
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Recurrent fractures, Craniosyn... ORPHA:667
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... OMIM:602433
Dysplasia Epiphysealis Hemimelica
Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Accele... ORPHA:1822
Autosomal Recessive Spastic Paraplegia Type 66
Lower limb spasticity, Impaired vibration sensation in the lower limbs, Limb hypertonia, Colpocep... ORPHA:401815
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Inability to walk, Sensory ataxia, Facial... OMIM:618184
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Os... ORPHA:3409
Macrocephaly, Acquired, With Impaired Intellectual Development
Narrow nasal bridge, Probst bundles, Anteverted nares, Impulsivity, Aggressive behavior, Attentio... OMIM:618286
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Dental malocclusion, Diaphysea... OMIM:259730
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Bowing of limbs due to... OMIM:259410
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... OMIM:607080
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Tibiofibular diastasis, Joint stiffness... ORPHA:566943
Hereditary Late-Onset Parkinson Disease
Resting tremor, Lewy bodies, Parkinsonism, Akinesia, Impulsivity, Rigidity, Mental deterioration,... ORPHA:411602
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Neurodegeneration With Brain Iron Accumulation 4
Tremor, Abnormal pyramidal sign, Loss of ambulation, Abnormal lower motor neuron morphology, Atax... OMIM:614298
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Bowing of lim... OMIM:259440
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Micrognathia, Low anterior hairline, Prelingual sensorineural hearing impairment, Clinodactyly of... ORPHA:73272
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... ORPHA:3240
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Ataxia, Involuntary movements, Decreased number of large peripheral myelinate... OMIM:271245
Isolated Osteopoikilosis
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... ORPHA:166119
Marbach-Rustad Progeroid Syndrome
Femur fracture, Short stature, Delayed eruption of primary teeth, Micrognathia, Reduced bone mine... OMIM:619322
Charcot-Marie-Tooth Disease, Type 4B3
Microcephaly, Distal sensory impairment, Gait disturbance, Brain atrophy, Loss of ambulation, Mye... OMIM:615284
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... OMIM:241530
Lethal Congenital Contracture Syndrome 8
Oral-pharyngeal dysphagia, Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Peri... OMIM:616287
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... ORPHA:75508
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Ataxia, Impaired pain... OMIM:608703
Osseous Heteroplasia, Progressive
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue OMIM:166350
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Delayed CNS myelination, Spastic tetraparesis, Microcephaly, Periventricular cysts, Simplified gy... OMIM:617668
Rothmund-Thomson Syndrome Type 1
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Microdontia, Short ph... ORPHA:221008
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Abnormal metaphysis morphology, Recurrent fractures ORPHA:417
Mucolipidosis Iv
Cerebellar atrophy, Cerebral dysmyelination, Microcephaly, Progressive neurologic deterioration, ... OMIM:252650
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Facial palsy, Impaired pain sensation, Impaired distal vibration sensation, Distal sensory impair... OMIM:607684
Juvenile Paget Disease
Bowing of the long bones, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Coarse metaphy... ORPHA:2801
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... ORPHA:90650
Rothmund-Thomson Syndrome
Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,... ORPHA:2909
Autosomal Recessive Spastic Paraplegia Type 11
Progressive spasticity, Focal T2 hyperintense basal ganglia lesion, Ataxia, Parkinsonism, Gait di... ORPHA:2822
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Recurrent fractures, Osteomalacia, Bone cyst, Bone pain, Os... ORPHA:93160
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Somatic sensory dysfunction, Steppage gai... OMIM:600882
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Spasticity, Polymicrog... OMIM:600348
Mycetoma
Osteomyelitis, Bone cyst, Osteoporosis, Abnormal forearm bone morphology, Painless fractures due ... ORPHA:2583
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Microcephaly, Axonal degeneration,... OMIM:616811
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Hepatomegaly, Femur fracture, Splenomegaly, Anemia, Decrease... OMIM:612301
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Increased bone mineral density, Craniosynostosis, Hearing impairment ORPHA:178377
Congenital Hydrocephalus
Abnormal cortical gyration, Bulbous nose, Hydrocephalus, Optic atrophy, Small cerebral cortex, Co... ORPHA:2185
Proteus Syndrome
Splenomegaly, Facial hyperostosis, Calvarial hyperostosis, Mandibular hyperostosis, Thin bony cortex OMIM:176920
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Clonus, Involuntary movements, Reduced cerebral white matter volume, Opt... OMIM:620352
Dentin Dysplasia
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Neurodegeneration With Brain Iron Accumulation 2B
Chorea, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, Hyperactivity, Emotional lability, ... OMIM:610217
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... OMIM:144750
Pontocerebellar Hypoplasia, Type 15
Delayed CNS myelination, Chronic neutropenia, Partial agenesis of the corpus callosum, Hydrocepha... OMIM:619302
Bruck Syndrome
Bowing of the long bones, Recurrent fractures, Joint stiffness, Osteoporosis, Talipes equinovarus... ORPHA:2771
De Sanctis-Cacchione Syndrome
Ventriculomegaly, Ataxia, Microcephaly, Basal ganglia calcification, Axonal degeneration, Optic a... OMIM:278800
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Tented upper lip vermilion, Increased skull ossification, Metaphyseal widening, Craniofacial oste... OMIM:618476
Short Stature, Dauber-Argente Type
Long toe, Osteopenia, Delayed eruption of teeth, Arachnodactyly, Short stature, Decreased fibular... OMIM:619489
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Delayed CNS myelination, Choanal atresia, Prominent nasal bridge, Reduced cer... OMIM:615095
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Ce... ORPHA:309246
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Femoral bowing, Ge... OMIM:617952
Charcot-Marie-Tooth Disease, Type 4D
Impaired distal proprioception, Segmental peripheral demyelination/remyelination, Impaired distal... OMIM:601455
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko... ORPHA:77297
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Fractures of the long bones, Bone pain, Osteolysis, Increa... OMIM:602080
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short attention span, Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotempora... ORPHA:412066
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... OMIM:105550
Variant Abeta2M Amyloidosis
Multiple bony cystic lesions, Wrist pain, Pathologic fracture, Knee pain, Arthralgia of the hip ORPHA:314652
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Trichodentoosseous Syndrome
Increased bone mineral density, Abnormal hair morphology, Taurodontia, Widely spaced teeth, Micro... OMIM:190320
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Delayed CNS myelination, Hyperactivity, Depressed nasal bridge, Microcephaly, Aggressive behavior... OMIM:615286
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Somatic sensory dysfunction, Steppa... OMIM:615376
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Abnormal cerebral white matter morphology, Axonal degeneration OMIM:618138
Mitochondrial Dna Depletion Syndrome 18
Clonus, Microcytic anemia, Axonal degeneration, Falls, Tongue fasciculations OMIM:618811
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Greenberg Dysplasia
Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi... ORPHA:1426
Martsolf Syndrome 2
Broad nasal tip, Microcephaly, Spastic diplegia, Lateral ventricle dilatation, Hypoplasia of the ... OMIM:619420
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Trigeminal Neuralgia
Somatic sensory dysfunction, Cranial nerve compression, Depression, Paresthesia, CNS demyelinatio... ORPHA:221091
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex, Short tubular bones of the hand, Co... ORPHA:85184
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Cone-shaped epi... ORPHA:2484
Posterior Column Ataxia With Retinitis Pigmentosa
Broad-based gait, Ataxia, Impaired proprioception, Impaired vibration sensation in the lower limb... OMIM:609033
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Posteriorly rotated ears, Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormal femu... ORPHA:2063
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... ORPHA:363654
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth d... OMIM:301078
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Spastic ataxia, Ataxia, Decreased number of large peripheral myelinat... OMIM:270550
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Torticollis, Leukoencephalopathy, Head tremor, Hyposmia, Intention ... OMIM:613724
Acrodysostosis
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Hypoplasia of the... ORPHA:950
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Delayed CNS myelination, Cerebral palsy, Depressed nasal bridge, Ataxia, Ventriculomegaly, Microc... OMIM:619833
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Cerebellar atrophy, Appendicular spasticity, Delayed CNS myelination, Inability to walk, Optic at... OMIM:618324
Rothmund-Thomson Syndrome Type 2
Osteopenia, Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Sparse hair, Microdon... ORPHA:221016
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing OMIM:126550
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... OMIM:264700
Achondrogenesis Type 1A
Recurrent fractures, Micromelia, Abnormal enchondral ossification, Short foot, Short palm ORPHA:93299
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Splenomegaly, Recurrent fractures, Anemia OMIM:618107
Hypophosphatasia
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal metaphysis morphology, ... ORPHA:436
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... OMIM:277440
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Osteoporosis, B... OMIM:613849
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor... ORPHA:250972
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo... ORPHA:1952
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... ORPHA:289157
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Bowing of the arm, ... OMIM:619131
Pyruvate Dehydrogenase E1-Alpha Deficiency
Periventricular leukomalacia, Ataxia, Microcephaly, Inability to walk, Cerebellar gliosis, Partia... ORPHA:79243
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocyt... ORPHA:77259
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... OMIM:231095
Charcot-Marie-Tooth Disease Type 4A
Impaired distal proprioception, Decreased number of large peripheral myelinated nerve fibers, Imp... ORPHA:99948
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor,... OMIM:615491
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Cerebral atrop... OMIM:300894
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Osteolysis, Increased susceptibility to fractures, Abnormal long bone morphology, Calvarial hyper... ORPHA:52430
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... OMIM:259420
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Short stature, Cortical sclerosis, Craniofacial... OMIM:122860
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Spastic paraplegia, Abnorma... OMIM:256850
12q14 microdeletion syndrome
Osteopoikilosis, Proportionate short stature DECIPHER:76
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Clumsiness, Depression, Irritabili... ORPHA:66624
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Pyknoachondrogenesis
Increased bone mineral density, Stillbirth OMIM:265880
Marshall-Smith Syndrome
Bowing of the long bones, Craniosynostosis, Accelerated skeletal maturation, Increased susceptibi... ORPHA:561
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... ORPHA:2769
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow... ORPHA:1423
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral white matter atrophy, Cerebral palsy, Delayed myelination, Poor gross motor coordination... ORPHA:2148
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Basal ganglia calcification, Abnormal pyramidal sign,... OMIM:618317
Dent Disease 1
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Osteomalacia, Bowing of the legs, Delay... OMIM:300009
Lissencephaly 3
Agyria, Ataxia, Microcephaly, Spastic tetraplegia, Lissencephaly, Hypoplasia of the corpus callos... OMIM:611603
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Cardiospondylocarpofacial Syndrome
Severe short stature, High, narrow palate, Short palm, Conductive hearing impairment, Failure of ... ORPHA:3238
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Microcephaly, Abnormal fear-induced behavior, Cortical dysplasia, Pseudobulb... ORPHA:208441
Hypophosphatasia, Infantile
Craniosynostosis, Bowing of the legs, Micromelia, Increased susceptibility to fractures, Decrease... OMIM:241500
Maffucci Syndrome
Multiple enchondromatosis, Bone pain, Osteolysis, Recurrent fractures ORPHA:163634
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Smooth philtrum, Hepatomegaly, Low-set, posteri... ORPHA:1133
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Microcephaly 5, Primary, Autosomal Recessive
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Hypoplasia of ... OMIM:608716
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Peripheral axonal neuropathy, Ventriculomegaly, Axonal degeneration/regeneration, Tremor, Inabili... OMIM:218000
Beemer-Ertbruggen Syndrome
Low-set, posteriorly rotated ears, Increased bone mineral density, Micrognathia, Cryptorchidism, ... ORPHA:1237
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Coxa vara, Increased suscepti... OMIM:610968
Osteogenesis Imperfecta, Type Xiii
Femoral bowing, Reduced bone mineral density, Protruding ear, Decreased body weight, Generalized ... OMIM:614856
Chondrodysplasia, Blomstrand Type
Fetal ascites, Micrognathia, Micromelia, Generalized osteosclerosis, Squared iliac bones, Flared ... OMIM:215045
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology OMIM:605253
Odontochondrodysplasia 1
Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Short st... OMIM:184260
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... ORPHA:352540
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... OMIM:112250
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Cerebrotendinous Xanthomatosis
Abnormal globus pallidus morphology, Axonal degeneration, Abnormal pyramidal sign, Progressive ps... ORPHA:909
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Flare... OMIM:615349
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Hepatomegaly, Short stature, Joint stiffness, Postnatal growth retardation, Splenome... OMIM:620210
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Parkinsonism, Frontotemporal dementia, Frontal lobe dementia, Irri... OMIM:600274
Charcot-Marie-Tooth Disease Type 1F
Restless legs, Demyelinating motor neuropathy, Impaired proprioception, Hand tremor, Gait ataxia,... ORPHA:101085
Cerebrooculofacioskeletal Syndrome 1
Micrognathia, Flexion contracture, Abnormality of the ear, Knee flexion contracture, Cryptorchidi... OMIM:214150
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures ORPHA:2773
Leukoencephalopathy With Vanishing White Matter 5
Progressive neurologic deterioration, Megalencephaly, Abnormal cerebral white matter morphology, ... OMIM:620315
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Restlessness, Delayed CNS myelination, Microcephaly, Partial agenesis of the corpus callosum, Lat... OMIM:619517
Charcot-Marie-Tooth Disease, Type 4B1
Myelin outfoldings, Irregular myelin loops, Facial palsy, Distal sensory impairment OMIM:601382
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Lead Poisoning
Delayed eruption of teeth, Decreased HDL cholesterol concentration, Decreased female libido, Smal... ORPHA:330015
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Dysplastic corpus callosum, Aggressive behavior, Primary microcephaly OMIM:618010
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ... OMIM:166220
Abetalipoproteinemia
CNS demyelination, Ataxia, Peripheral demyelination, Acanthocytosis OMIM:200100
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Axonal degeneration, Impaired vibration sensation in the lower limbs,... ORPHA:88628
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Recurrent fractures, Multiple prenatal fractures, Absent o... OMIM:166210
Tricho-Dento-Osseous Syndrome
Abnormal hair quantity, Increased bone mineral density, Dental enamel pits, Periapical tooth absc... ORPHA:3352
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Multiple prenatal fra... OMIM:271225
Holoprosencephaly 5
Depressed nasal bridge, Anteverted nares, Syntelencephaly, Alobar holoprosencephaly, Microcephaly... OMIM:609637
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Bowing of the legs, Bone pain, Reduced bone mineral density, Hypophosphatemic ricke... ORPHA:157215
Pachydermoperiostosis
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, ... ORPHA:2796
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Axonal degeneration, Frequent falls, Diaphragmatic paralysis OMIM:620011
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Idiopathic Juvenile Osteoporosis
Bone pain, Osteoporosis, Recurrent fractures ORPHA:85193
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration, Depressed nasal bridge, Long nasal bridge OMIM:162100
Carpenter Syndrome 1
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Micrognathia, Hyp... OMIM:201000
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Agyria, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior limb... ORPHA:171680
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... ORPHA:1328
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Unsteady gait, Optic atrophy, Abnormal pyramidal sign, Cerebral atrop... OMIM:256600
Foxg1 Syndrome
Inability to walk, Delayed myelination, Abnormal repetitive mannerisms, Bruxism, Stereotypical ha... ORPHA:561854
Epilepsy, Progressive Myoclonic, 9
Simplified gyral pattern, Gait ataxia, Myoclonus, Action myoclonus, Frequent falls, Agenesis of c... OMIM:616540
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Roifman Syndrome
Delayed proximal femoral epiphyseal ossification, Downturned corners of mouth, Clinodactyly of th... ORPHA:353298
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Abnormal metaphys... ORPHA:1782
Infantile Systemic Hyalinosis
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Micromel... ORPHA:2176
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hyperflexibility, Decreased calvarial ossification, Recurrent fractures, Micromelia ORPHA:2772
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Sparse scalp hair, Alopecia, Delayed eruption of teeth, Abnormal dental en... ORPHA:2325
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Microcephaly, Optic atrophy, Tetraplegia, Cerebral atrophy, Hypertonia, Agenesis o... OMIM:274270
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Hypercalcemia, Tapered finger, Unilateral radial aplasia, Partial absence of thu... ORPHA:476126
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... ORPHA:740
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi... OMIM:101800
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Angulated humerus, Bowing of the long bones, Rhizomelia, Recurrent fractures, Decreas... OMIM:616229
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Cerebral Visual Impairment
Optic disc pallor, Short attention span, Cerebral palsy, Optic nerve hypoplasia, Microcephaly, Hy... ORPHA:447788
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Spastic diplegia, Cerebral atrophy, Periventricular cysts, Abnormal basal ganglia m... ORPHA:255182
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Diastrophic Dysplasia
Hip contracture, Small for gestational age, Costal cartilage calcification, Flattened epiphysis, ... OMIM:222600
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Cerebral white matter atrophy, Ataxia, Delayed peripheral m... ORPHA:464282
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Microcephaly, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Axonal l... OMIM:252150
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Ventriculomegaly, Ataxia, Aggressive behavior, Trem... ORPHA:572798
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Depressed nasal bridge, Anteverted nares, Inability to walk, Abnormal c... OMIM:613443
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Frontotemporal dementia, Athetosis, Axonal loss, Gliosi... OMIM:300857
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Pitt-Hopkins Syndrome
Supernumerary nipple, Tapered finger, Postnatal growth retardation, Cryptorchidism, Broad fingert... ORPHA:2896
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Bone pain,... ORPHA:98850
Glutaric Acidemia I
Rigidity, Delayed myelination, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Sy... OMIM:231670
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Microcephaly, Wide nasal bridge, Lateral ventricle d... ORPHA:79326
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Ataxia, Cerebral dysmyelination, Dysmyelinating leukodystrophy, Anosmia, Spastic tet... OMIM:609136
Pelizaeus-Merzbacher Disease
Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Choreoathetosis, Intention tremor, ... OMIM:312080
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Mandibular prognathia, Short metatarsal, Clitoral hypoplasia, Sparse hair, Short meta... OMIM:614813
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Toe syndactyly, Elevated circulating creatine kinase concentration, ... OMIM:616809
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Abnormal metaphyseal trabeculation, Flare... OMIM:224300
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ora... ORPHA:254930
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Severe demyelination of the white matter, Megaloblastic anemia, Atrophy of the spinal cor... ORPHA:79282
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Coxa valga, Micrognathia, Wide anterior fontanel, Flattened epiph... ORPHA:163649
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Trichothiodystrophy 3, Photosensitive
Natal tooth, Failure to thrive, Brittle hair, Short stature, Increased circulating IgA level, Bil... OMIM:616395
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 81
Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... OMIM:620277
Osteogenesis Imperfecta, Type I
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Hip dyspl... OMIM:166200
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Hypothyroidism, Primary ad... ORPHA:2905
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
48,Xxyy Syndrome
Hypoplasia of penis, Abnormal shoulder morphology, Chronic otitis media, Clinodactyly of the 5th ... ORPHA:10
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Ataxia, Focal polymicrogyria, Partial agenesis of the corpus callosum, ... OMIM:615771
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint laxity, Short metacarpal, Delayed eruption of teeth, Short stature, Camptodacty... OMIM:612350
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Microcephaly, Tremor, Rigidity, Impul... ORPHA:442835
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Premature loss of teeth, Oral ... ORPHA:486
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Oligozoospermia, Increase... OMIM:615703
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, High palate, Amelogenesis imperfecta, Microretrognathia, Sho... OMIM:618363
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to grow... ORPHA:811
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Microcephaly, Pachygyria, Wide nasal bridge, N... ORPHA:168486
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... ORPHA:1452
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Sensorineural hearing impairment, O... ORPHA:3019
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... OMIM:234200
Young-Onset Parkinson Disease
Restless legs, Short attention span, Impulsivity, Rigidity, Tremor, Depression, Bradykinesia, Fro... ORPHA:2828
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Unsteady gait, Slurred speech, Babinski sign, Dysmetria, Clumsiness, Gait ataxia, Nonprogressive ... ORPHA:453521
Masa Syndrome
Lower limb spasticity, Microcephaly, Hydrocephalus, Spastic paraplegia, Paraplegia, Shuffling gai... OMIM:303350
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Myoclonus, Agenesis ... OMIM:605899
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Short stature, Short toe, Short metatarsal, Osteopor... OMIM:103580
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Hepatomegaly, Brachydactyly, Dental crowding, Hearing impairment, Sple... OMIM:616354
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Short lower limbs, Hypoplastic iliac wing, Avascular necrosis of the capital fe... ORPHA:93315
Peho Syndrome
Cerebellar atrophy, Pachygyria, Optic atrophy, Myoclonus, Peripheral dysmyelination, Hypoplasia o... OMIM:260565
Camurati-Engelmann Disease
Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ... OMIM:131300
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Abnormal hand morphology, Osteolysis involving bones of the upper limbs, Osteoporosis... ORPHA:371428
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... OMIM:619752
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Abnormal cerebral w... OMIM:300100
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short stature, Sensorineural hearing impairment, Osteoporosis, Cone-sh... ORPHA:71267
Geroderma Osteodysplastica
Recurrent fractures, Osteoporosis, Hip dislocation, Joint hyperflexibility, Abnormal epiphysis mo... ORPHA:2078
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Short stature, Hip osteoarthritis, Joint hyperflexibility, Hip dysplas... ORPHA:63442
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Dementia, Hyposmi... OMIM:607060
Tangier Disease
Peripheral axonal neuropathy, Impaired temperature sensation, Impaired pain sensation, Splenomega... OMIM:205400
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Steppage gait, Onion bulb formation, Distal sensory impairment OMIM:614455
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin... OMIM:604250
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Depressed nasal bridge, Spastic tetraparesis, Delayed myelination, Simplified gyral pattern, Late... ORPHA:284417
Pontocerebellar Hypoplasia, Type 12
Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Primary microcephaly OMIM:618266
Polyrrhinia
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormal external nose morph... ORPHA:141091
Dworschak-Punetha Neurodevelopmental Syndrome
Peripheral axonal neuropathy, Depressed nasal bridge, Microcephaly, Dysplastic corpus callosum, C... OMIM:619955
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum, Thrombocytopenia OMIM:166990
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, CNS hypomyelination, Subependymal cy... OMIM:610015
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Microcephaly, Optic atrophy, CNS hypomyelination, Neurodegeneration, Gliosis,... OMIM:616239
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Protruding ear, Cone-s... OMIM:190350
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased body mass index, Congenital hip dislocation, Increased T3/T4... OMIM:614450
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Optic disc pallor, Tremor, Dysplastic corpus callosum, Hypoesthesia... OMIM:619737
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Short stature, Hearing impairment, Micrognathia, Capitate-hamate fusion, Short ... OMIM:614078
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia OMIM:183300
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Microcephaly, Inability to walk, Bulbous nose, Poor coordination, Abnor... OMIM:617695
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Hypertonia, Tics, Leukodystrophy, Compulsive behaviors, Abnormal repetitive mannerisms, I... OMIM:619475
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... OMIM:259600
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Short stature, M... ORPHA:2863
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Delayed CNS myelination, Hyperactivity, Depressed nasal bridge, Reduced cerebral white matter vol... OMIM:620075
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Lower limb spasticity, Involuntary movements, Microcephaly, Corpus callosum at... ORPHA:565624
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Bone pai... OMIM:307800
Gm1-Gangliosidosis, Type Ii
Coxa valga, Joint stiffness, Splenomegaly, Sea-blue histiocytosis, Limb undergrowth, Thin bony co... OMIM:230600
Bent Bone Dysplasia Syndrome 1
Bent long bone, Natal tooth, Clitoral hypertrophy, Micrognathia, Hypoplastic pubic bone, Gingival... OMIM:614592
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Bowing of the long bones, Metaphyseal chondrodysplasia, Knee flexion... OMIM:156400
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79444
Gapo Syndrome
Hepatomegaly, Alopecia, Sparse eyelashes, Micrognathia, Sparse eyebrow, High, narrow palate, Wide... OMIM:230740
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Lymphad... ORPHA:100024
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Natal tooth, Overfolding of the superior helices, Extramedullary hematopoiesis, Clito... ORPHA:313855
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Cortical dysplasia, Hemiparesis, Lateral ventricle dilatation, Cerebral hy... ORPHA:101071
Al-Gazali Syndrome
Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Bilateral talipe... OMIM:609465
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased... OMIM:231070
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Obesity, Osteoporos... OMIM:612463
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Dysostosis, Stanescu Type
Bowing of the long bones, Increased bone mineral density, Short stature, Abnormal dental enamel m... ORPHA:1798
Brachydactyly, Type E1
Short metacarpal, Moderately short stature, Short metatarsal, Short clavicles, Multiple impacted ... OMIM:113300
Gapo Syndrome
Mandibular prognathia, Dysmenorrhea, Micrognathia, Decreased skull ossification, Alopecia, Short ... ORPHA:2067
Grange Syndrome
Short palm, Syndactyly, Increased susceptibility to fractures ORPHA:79094
Adrenomyeloneuropathy
Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy/Degeneration involving the corti... ORPHA:139399
Functioning Gonadotropic Adenoma
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... ORPHA:91348
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Short statur... OMIM:239000
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... ORPHA:93284
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Distal sensory impai... OMIM:607831
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... ORPHA:231222
48,Xxxy Syndrome
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Clinodactyly of the 5th finger, Chroni... ORPHA:96263
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Bowing of the legs, Rickets, Bone pain, Iron deficiency anemia, Tooth abscess ORPHA:89937
Choreoacanthocytosis
Caudate atrophy, Chorea, Hypertonia, Compulsive behaviors, Loss of ambulation, Small basal gangli... ORPHA:2388
Stüve-Wiedemann Syndrome
Osteopenia, Bowing of the long bones, Recurrent fractures, Camptodactyly of finger, Micromelia, M... ORPHA:3206
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... ORPHA:89936
Trichothiodystrophy
Osteopenia, Multiple joint contractures, Brittle hair, High, narrow palate, Protruding ear, Neutr... ORPHA:33364
49,Xxxxy Syndrome
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Shyness, Clinodactyly of the 5th finge... ORPHA:96264
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Thi... ORPHA:249
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Aggressive behavior, Dysplastic corpus... ORPHA:488627
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Delayed CNS myelination, Partial agenesis of the corpus callosum, Optic nerve dysplasia, Spastic ... OMIM:617296
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Osteoporosis, Obesi... OMIM:612462
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Failure to thrive, Reduced... OMIM:615592
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Microcephaly, Neurodegeneration, Gait ataxia ORPHA:438134
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Decreased response to growth hormone stimulat... OMIM:241410
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic disc pallor, Anosmia, Optic atrophy, Distal sensory impairment, Steppage gait, Positive Rom... OMIM:601152
Aarskog-Scott Syndrome
Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodactyly of the 5th finger, Abnormal ... ORPHA:915
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Bowed humerus, Recurrent fractures, Osteoporosis, Hip dislocation, Reduced bone min... OMIM:616507
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Anteverted nares, Prominent nasal bridge, Dysplastic corpus callosum, Bulbous nose, Cerebral atro... OMIM:616900
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Recurrent fractures, Joint hypermobility, Reduced bone mineral density OMIM:619115
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Malar flattening, Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb u... OMIM:118651
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... OMIM:620156
Gray Platelet Syndrome
Myelofibrosis, Abnormal number of alpha granules, Splenomegaly, Menorrhagia, Thrombocytopenia OMIM:139090
Raine Syndrome
Mandibular prognathia, Micromelia, Micrognathia, Protruding ear, High palate, Microdontia, Neonat... OMIM:259775
Werner Syndrome
Sparse scalp hair, Increased bone mineral density, Short stature, Rocker bottom foot, Joint stiff... ORPHA:902
Elsahy-Waters Syndrome
Mandibular prognathia, Bifid scrotum, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synoph... OMIM:211380
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Bowing of the long bones, Metaphyseal sclerosis, Osteoporosis, Increased susceptibili... OMIM:612199
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation,... ORPHA:466768
Coffin-Siris Syndrome 2
Low anterior hairline, High palate, Short philtrum, Short stature, Cryptorchidism, Thick vermilio... OMIM:614607
Immunodeficiency 8 With Lymphoproliferation
Recurrent otitis media, Complete or near-complete absence of specific antibody response to unconj... OMIM:615401
Greenberg Dysplasia
Micromelia, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomeli... OMIM:215140
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basal ganglia, Abnormal ... ORPHA:300570
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Recurrent fractures, Reduced bone mineral density ORPHA:137608
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... ORPHA:1350
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Abnormal py... OMIM:614833
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short femur, Fractured radius, Decreased fibular diameter, Multiple prenatal fracture... OMIM:616897
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Optic atrophy, Abnormal cerebral w... ORPHA:352682
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Involuntary movements, Broad nasal tip, Microcephaly, Inability to walk, Wide nasal bridge, Later... OMIM:615716
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Micrognathia, Glossoptosis, High palate, Conductive hearing impairment, Short stature... OMIM:611209
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria, Wide nasal bridge OMIM:614870
Spondylocarpotarsal Synostosis Syndrome
Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, Hypoplasia of the ... OMIM:272460
Temple-Baraitser Syndrome
Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, Low anterior hairline,... ORPHA:420561
Trisomy 9P
Dental crowding, Non-midline cleft lip, Impacted tooth, Downturned corners of mouth, Protruding e... ORPHA:236
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Delayed CNS myelination, Ataxia, Parkinsonism, Microcephaly, Chorea, Cogwheel rig... OMIM:619725
Pycnodysostosis
Increased bone mineral density, Short stature, Aplastic clavicle, Micrognathia, Absent frontal si... OMIM:265800
Schwartz-Jampel Syndrome
Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Low anterior hairli... ORPHA:800
12Q14 Microdeletion Syndrome
Short stature, Micrognathia, Abnormality of the spleen, Osteopoikilosis, Synophrys, Downturned co... ORPHA:94063
Osteogenesis Imperfecta, Type Vi
Joint laxity, Protrusio acetabuli, Coxa vara, Increased susceptibility to fractures OMIM:613982
Leukodystrophy, Hypomyelinating, 5
Cerebral white matter atrophy, Truncal titubation, Babinski sign, Abnormal pyramidal sign, CNS hy... OMIM:610532
Sanjad-Sakati Syndrome
Hypoparathyroidism, Low-set, posteriorly rotated ears, Hypoplasia of penis, Short stature, Abnorm... ORPHA:2323
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hepatomegaly, Dental crowding, Short stature, Highly arched eyebrow, Micrognathia, Persistence of... OMIM:618342
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic corpus callosum, Babinski sign,... ORPHA:2524
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia, Microcephaly, Lateral ventricle dilatation, Hypertonia, Hypoplasia of the... OMIM:618890
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... ORPHA:93308
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Ollier Disease
Micromelia, Joint stiffness, Precocious puberty, Osteolysis, Lymphangioma, Abnormal metaphysis mo... ORPHA:296
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Abnormality of neutrophils, Microg... ORPHA:235
Hsd10 Disease, Infantile Type
Restlessness, Diffuse cerebral atrophy, Spastic tetraparesis, Microcephaly, Poor coordination, Op... ORPHA:391428
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Ataxia, Aggressive behavior, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait at... OMIM:618321
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Somatic sensory dysfunction, Peripheral dysmyelination ORPHA:101082
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ... ORPHA:93296
Brachyolmia Type 1, Hobaek Type
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... OMIM:271530
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, R... ORPHA:289176
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Axonal degeneration, Degeneration of anterior horn cells, Diaphra... OMIM:604320
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Bone pain, Rickets OMIM:613388
Brittle Cornea Syndrome
Hallux valgus, Arachnodactyly, Osteoporosis, Increased susceptibility to fractures, Joint hyperfl... ORPHA:90354
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... ORPHA:93323
Cleidocranial Dysplasia 1
Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, High, narrow palate... OMIM:119600
Adams-Oliver Syndrome 2
Depressed nasal bridge, Microcephaly, Bulbous nose, Hydrocephalus, Optic atrophy, Cerebral atroph... OMIM:614219
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Acrocephalopolydactyly
Hepatosplenomegaly, Short long bone, Microtia, Limb undergrowth, Brachydactyly ORPHA:221054
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Singleton-Merten Syndrome 1
Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio... OMIM:182250
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Bone pain, Rickets, Osteomalacia OMIM:193100
Rhizomelic Chondrodysplasia Punctata
Alopecia, Short stature, Rhizomelia, Abnormality of the dentition, Limitation of joint mobility, ... ORPHA:177
Cog5-Cdg
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral white matter atrophy, Prominent nose, Micr... ORPHA:263487
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Osteomalacia, Bowin... ORPHA:1652
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Decreased circulating total IgM, Monocytosis, B lymphocytopenia, Recu... OMIM:619281
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hyp... OMIM:235510
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Joint stiffness, Osteo... ORPHA:137834
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Osteomyelitis, Recurrent fractures, Eosinophilia, Craniosynostosis, Increased circula... ORPHA:2314
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Hepatom... OMIM:612541
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str... ORPHA:93357
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Clonus, Microcephaly, Babinski sign, Spastic tetraplegia, Cerebral atrophy, Opist... OMIM:619847
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Hepatomegaly, Rhizomelia, Micromelia, Abnormal thumb morphology, Hearing a... ORPHA:1842
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Microcephaly, Recurrent upper respiratory tract infections, Optic atrop... ORPHA:3078
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Elevated circulating creatine kinase concentration, Micromelia, Bowin... OMIM:255800
C Syndrome
Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Hepatomegaly, Short ... OMIM:211750
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Delayed CNS myelination, Anteverted nares, Microcephaly, Colpocephaly, Polymicrogyria OMIM:618731
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Hepatomegaly, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared met... OMIM:602557
Indifference To Pain, Congenital, Autosomal Recessive
Pain insensitivity, Impaired temperature sensation, Anosmia, Impaired proprioception, Painless fr... OMIM:243000
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing... OMIM:612394
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Delayed CNS myelination, Parkinsonism, Spastic tetraparesis, Inability to walk, Partial agenesis ... OMIM:619653
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Stenosis of the medullary cavity of the long bones, Short stature, Per... ORPHA:93325
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Prominent nose, Corpus callosum atrophy, Microcephaly, Aggressive behavior, Simplified gyral patt... OMIM:619244
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... ORPHA:90652
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Short stature, Osteoarthritis, Arthralgia of the hip, ... ORPHA:166002
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Short stature, Hip dislocation, Retrognathia, High palate, Neutropenia, Limb undergro... OMIM:618005
Cole-Carpenter Syndrome 2
Osteopenia, Recurrent fractures, Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow il... OMIM:616294
Craniometadiaphyseal Dysplasia
Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Short stature,... OMIM:269300
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Mandibular prognathia, Attached earlobe, Toe syndactyly, Low-set, posteriorly rota... ORPHA:1327
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Oral ulcer, Gingivitis, Periodontitis, Hepatic steatosis, Hypothyroidism, Hepatomegal... ORPHA:79259
Autosomal Recessive Spastic Paraplegia Type 55
Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Distal sensory impairment,... ORPHA:320375
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Abnormal hair morphology, C... OMIM:250460
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm... OMIM:300244
Acute Panmyelosis With Myelofibrosis
Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... ORPHA:86843
Bilateral Generalized Polymicrogyria
Microcephaly, Oral-pharyngeal dysphagia, Diffuse white matter abnormalities, Spastic tetraplegia,... ORPHA:208447
Immunodeficiency 27A
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Weight loss, Hepatosplenomegaly, Incr... OMIM:209950
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Micropenis, Calvarial ... OMIM:616331
Tyrosinemia Type 1
Splenomegaly, Rickets of the lower limbs ORPHA:882
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Generali... OMIM:613848
Laron Syndrome
Delayed menarche, Short long bone, Severe short stature, Limb undergrowth OMIM:262500
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Abnormal cortical bone morphology OMIM:614886
Hydrolethalus
Absent septum pellucidum, Hydrocephalus, Anencephaly, Abnormality of the sense of smell, Agenesis... ORPHA:2189
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenome... OMIM:619644
Odontochondrodysplasia
Delayed eruption of teeth, Bowing of the long bones, Short stature, Micromelia, Coxa valga, Cone-... ORPHA:166272
Acrocraniofacial Dysostosis
Micrognathia, Short philtrum, Triphalangeal thumb, Abnormality of the malleus, Conductive hearing... ORPHA:949
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Increased bone mineral density, Rhizomel... ORPHA:50945
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Short stature, Camptodactyly of finger, Micromelia, Ulnar deviat... ORPHA:2928
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate, Craniosynostosis, Intrauterine growth retardation OMIM:600252
Acrootoocular Syndrome
Abnormal finger flexion crease, Decreased response to growth hormone stimulation test, Micrognath... ORPHA:2980
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, C... OMIM:619797
3M Syndrome
Congenital hip dislocation, Micromelia, Hypoplastic ischia, Protruding ear, Clinodactyly of the 5... ORPHA:2616
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Impaired distal proprioception, Decreased number of large peripheral myelinated nerve fibers, Han... OMIM:162400
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Premature graying of hair, High ... OMIM:268400
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Ventriculomegaly, Facial-lingual fasciculations, Cerebral calcifica... OMIM:617281
Laron Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Severe short stature, Micrognathia, Short toe, Os... ORPHA:633
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesi... OMIM:618736
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Recurrent fractures, Abnormal toe morphology, Abnormal finger morphology, Hypophospha... OMIM:163200
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph... ORPHA:93351
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Severe short stat... OMIM:127000
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Abnormal eyebrow morphology, Hypoplasia of penis, Short stature, Hypos... ORPHA:1816
Cole-Carpenter Syndrome 1
Osteopenia, Recurrent fractures, Reduced bone mineral density, Coronal craniosynostosis, Orbital ... OMIM:112240
Bloom Syndrome
Micrognathia, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-positive... ORPHA:125
Craniosynostosis 6
Cerebellar atrophy, Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of... OMIM:616602
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria, Anteverted nares OMIM:300982
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Broad hallux, Slender finger, Generalized joint laxity, Small hand, Tibial bowing, In... ORPHA:251028
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Limitation of joint mobility, Temp... ORPHA:2741
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Recurrent fractures OMIM:620368
East Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Salt craving, Ataxia, Inability to walk, Periph... ORPHA:199343
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Recurrent fractures, Small abnormal... ORPHA:140
Roifman Syndrome
Hip contracture, Short metacarpal, Thin upper lip vermilion, Hepatomegaly, Eosinophilia, Short st... OMIM:616651
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Severe short stature, Bowing of the legs, Delayed epiphyseal ossification, Metaphys... ORPHA:93352
Gorlin Syndrome
Hydrocephalus, Cerebral calcification, Wide nasal bridge, Abnormality of the sense of smell ORPHA:377
Gaucher Disease Type 3
Pancytopenia, Increased bone mineral density, Splenomegaly, Delayed skeletal maturation, Bone pai... ORPHA:77261
Hennekam Syndrome
Mild postnatal growth retardation, Abnormal oral mucosa morphology, Short philtrum, Hypocalcemia,... ORPHA:2136
Hall-Riggs Syndrome
Delayed eruption of teeth, Slow-growing hair, Thick hair, Abnormal dental enamel morphology, Join... ORPHA:2107
Slc35A2-Cdg
Cerebellar atrophy, Cerebral white matter atrophy, Spastic tetraparesis, Microcephaly, Inability ... ORPHA:356961
Frontometaphyseal Dysplasia 1
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... OMIM:305620
Hyperparathyroidism, Transient Neonatal
Osteopenia, Short femur, Recurrent fractures, Metaphyseal spurs, Femoral bowing, Short long bone,... OMIM:618188
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Resting tremor, Ataxia, Dilated third ventricle, Babinski sign, Optic atrophy... ORPHA:314404
Immunodeficiency 50
Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... ORPHA:83
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Hyperactivity, Parkinsonism, Anorexia, A... ORPHA:3077
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Alopecia, Hypoplasia of penis, Short stature, Hypospadias, Abnormal ha... ORPHA:2315
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Frontal polymicrogyria, Anteverted nares, Ataxia, Wide nasal br... OMIM:608629
Fanconi Renotubular Syndrome 3
Rickets, Bowing of the legs OMIM:615605
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Small for gestational age, Short stature, Cardiomegaly, Wide distal femora... OMIM:613320
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia OMIM:615266
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... OMIM:619924
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hyposmia, Agenesis of corpus callosum, Anosmia, Choanal atresia OMIM:147950
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Microdontia, Neonatal s... ORPHA:289
Coffin-Siris Syndrome 3
Joint laxity, Sparse scalp hair, Thick eyebrow, Short stature, Hearing impairment, Short distal p... OMIM:614608
Paget Disease Of Bone 3
Fractures of the long bones, Bone pain, Osteolysis, Patchy osteosclerosis OMIM:167250
Mohr-Tranebjaerg Syndrome
Increased susceptibility to fractures OMIM:304700
Polycythemia Vera
Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Vertigo, ... ORPHA:729
Coxoauricular Syndrome
Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi... ORPHA:1508
Cleidocranial Dysplasia 2
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Del... OMIM:620099
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Posteriorly rotated ears, Rhizomelia, Craniosynostosis, Microg... ORPHA:93329
Osteootohepatoenteric Syndrome
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Reduced bone mineral de... OMIM:619377
Otospondylomegaepiphyseal Dysplasia
Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone m... ORPHA:1427
Pseudohypoparathyroidism Type 1B
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Short stature, Cortical su... ORPHA:94089
Essential Thrombocythemia
Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Retroperitoneal fib... ORPHA:35687
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Micrognathia, Micromelia, High, narrow palate, Synophrys, Downturned... OMIM:122470
Mccune-Albright Syndrome
Pathologic fracture, Polyostotic fibrous dysplasia, Craniofacial hyperostosis OMIM:174800
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Cleft palate... OMIM:249710
Schimke Immunoosseous Dysplasia
Osteopenia, Bilateral cryptorchidism, Abnormal T cell morphology, Coarse hair, Lateral displaceme... OMIM:242900
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Generalized hirsuti... ORPHA:2222
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Overfolded ... ORPHA:2631
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Accelerated skeletal maturation, Shoulder dislocation, Dislocated radial head, Rhizom... OMIM:245600
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Bulbous nose, Hydrocephalus, Optic atrophy, Simplified... OMIM:615219
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Seckel Syndrome 1
Dental crowding, Abnormal finger flexion crease, Selective tooth agenesis, Micrognathia, High pal... OMIM:210600
Mirage Syndrome
Leukopenia, Microphallus, Hyponatremia, Short stature, Hypospadias, Cryptorchidism, Overlapping f... OMIM:617053
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed skeletal maturation, Osteoporosis, Recurrent fractures, Reduced bone mineral density ORPHA:2235
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Depression, Neurodegeneration, Ag... ORPHA:803
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Hemiplegia/hemiparesis, ... ORPHA:3157
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Short corpus callosum, Lateral ventricle dilatation, Progressive spasticity OMIM:619972
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis of the capital femoral ... ORPHA:1901
Adamantinoma
Pathologic fracture, Bone pain ORPHA:55881
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Mandibular prognathia, Metaphyseal widening, Coxa vara, Neutropenia, Decreased circul... OMIM:271510
Stuve-Wiedemann Syndrome 1
Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx of finger, Os... OMIM:601559
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola... ORPHA:2972
Kanzaki Disease
Peripheral axonal neuropathy, Depressed nasal bridge, Axonal degeneration, Cerebral atrophy, Dist... OMIM:609242
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Head titubation, Dysmetria, Irritability, Myoclonus, Truncal ataxia, Agenesis of corpus c... OMIM:250620
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Hypercalcemia, Craniosynost... OMIM:614732
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Delayed CNS myelination, Cerebral calcification, Spastic tetraparesis, Microcep... OMIM:619487
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... ORPHA:1458
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, T lymphocytopenia, Narrow greater sciatic notch, Decreased ... ORPHA:508533
Lowry-Maclean Syndrome
Osteopenia, Hypospadias, Craniosynostosis, Micrognathia, Bilateral cryptorchidism, Hypoplasia of ... ORPHA:2409
Ruvalcaba Syndrome
Short metacarpal, Dental crowding, Short stature, Micromelia, Cryptorchidism, Limited elbow exten... OMIM:180870
Hemochromatosis, Type 1
Hepatomegaly, Alopecia, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Increased circ... OMIM:235200
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Anteverted nares, Ataxia, Severe demyelination of the white matter, Aggressive behavior, Inabilit... ORPHA:481152
Hypercholanemia, Familial 1
Rickets OMIM:607748
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Cleft palate, Microtia, Increased overbite, Camptodactyly, ... OMIM:618761
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Delayed CNS myelination, Anteverted nares, Depressed nasal bridge, Microcephaly, Bulbous nose, La... OMIM:614105
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Mccune-Albright Syndrome
Pancytopenia, Osteomalacia, Recurrent fractures, Accelerated skeletal maturation, Fibrous dysplas... ORPHA:562
11Q22.2Q22.3 Microdeletion Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, High, narrow palate, Small hand... ORPHA:444002
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Thick cerebral cortex, Ataxia, Prominent nasal bridge, Dysplastic corpu... ORPHA:357058
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Optic atrophy, Lissenc... ORPHA:1528
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Pancreatitis, Secondary amenorrhe... ORPHA:2348
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Delayed CNS myelination, Exaggerated startle response, Microcephaly, CNS hypo... OMIM:618367
Malan Overgrowth Syndrome
Optic disc pallor, Depressed nasal bridge, Lateral ventricle dilatation, Hypoplasia of the corpus... ORPHA:420179
Cartilage-Hair Hypoplasia
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Neutropenia, Abnormal bone... ORPHA:175
Emanuel Syndrome
Multiple joint contractures, Congenital hip dislocation, Dental crowding, Micrognathia, High pala... ORPHA:96170
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal widening, Larg... OMIM:271640
Hamamy Syndrome
Osteopenia, Syndactyly, Long toe, Recurrent fractures, Craniosynostosis, Microcytic anemia, Taper... OMIM:611174
Momo Syndrome
Delayed eruption of teeth, Underfolded helix, Short stature, Large for gestational age, Thick low... ORPHA:2563
Peroxisome Biogenesis Disorder 9B
Anosmia, Ataxia, Total anosmia OMIM:614879
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Micro... OMIM:151210
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat... ORPHA:95699
Multiple Pterygium-Malignant Hyperthermia Syndrome
Small scrotum, Downturned corners of mouth, Conductive hearing impairment, Advanced eruption of t... ORPHA:2215
Sapho Syndrome
Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler... ORPHA:793
Ataxia-Telangiectasia
Failure to thrive, Hypopigmentation of hair, Short stature, Decreased circulating antibody level,... ORPHA:100
Gm1 Gangliosidosis
Mandibular prognathia, Generalized hirsutism, Short stature, Gingival overgrowth, Hepatosplenomeg... ORPHA:354
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Short stature, Hearing impairment, Th... ORPHA:508542
Weismann-Netter Syndrome
Severe short stature, Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibula... OMIM:112350
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Posteriorly rotated ears... OMIM:617237
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the... OMIM:113000
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Abnormal palate morphology... ORPHA:1277
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Micrognathia, High palate, Short ... OMIM:619148
Castleman Disease
Myelofibrosis, Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Ab... ORPHA:160
Intermediate Nemaline Myopathy
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture ORPHA:171433
Oculodentodigital Dysplasia
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... ORPHA:2710
Astley-Kendall Dysplasia
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia ORPHA:85175
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Rocker bottom foot, Recurrent fractures, Tibial bowing, Congenital bilateral hip d... ORPHA:453510
Pyruvate Dehydrogenase E2 Deficiency
Speech apraxia, Broad-based gait, Microcephaly, Babinski sign, Hypertonia, Neurodegeneration, Gai... ORPHA:79244
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Micromelia, Anemia, Hepatosplenomegaly OMIM:273680
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... OMIM:272750
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Sensorineural hearing impairment, Tooth ankylosi... OMIM:166750
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... ORPHA:2496
Cockayne Syndrome Type 1
Mandibular prognathia, Hepatomegaly, Absent brainstem auditory responses, Foot joint contracture,... ORPHA:90321
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
H Syndrome
Microcytic anemia, Micropenis, Alopecia, Short stature, Cleft upper lip, Gingival overgrowth, Hep... ORPHA:168569
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume OMIM:611590
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Appendicular spasticity, Cerebral palsy, Depressed nasal bridge, Anteverted nares, Microcephaly, ... OMIM:620001
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, Protruding ear, High palate, Widely spaced teeth, Advanced eruption of... ORPHA:192
Paget Disease Of Bone 6
Osteoarthritis, Bone pain, Recurrent fractures OMIM:616833
Gaucher Disease
Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Hepatomegaly, ... ORPHA:355
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Recurrent fractures, Long fingers, Osteoporosis, Talipes... OMIM:309583
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Short long bone, Stillbirth, Camptodactyly, Neonatal death, Intrauterin... OMIM:619751
Faciocardiomelic Syndrome
Osteopenia, Dysharmonic bone age, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony c... OMIM:612731
Hogue-Janssen Syndrome 2
Delayed CNS myelination, Anteverted nares, Microcephaly, Inability to walk, Hydrocephalus, Gait a... OMIM:616362
Cockayne Syndrome A
Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone... OMIM:216400
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Joint laxity, Long toe, Bowing of the long bones, Arachnodactyly, Recurrent fractures... OMIM:130070
Methylcobalamin Deficiency Type Cble
Syndactyly, Hypomethioninemia, Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Ost... ORPHA:2169
Halperin-Birk Syndrome
Inability to walk, Optic atrophy, Spastic tetraplegia, Pseudobulbar paralysis, Hypertonia, Colpoc... OMIM:618651
Bone Marrow Failure Syndrome 6
Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co... OMIM:618849
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Alopecia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia... ORPHA:169154
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Sinusitis, Absence of lymph node germinal center, Increased circulating IgE level, T... ORPHA:277
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased susceptibility to ... OMIM:259770
Microhydranencephaly
Prominent nasal bridge, Microcephaly, Spastic tetraplegia, Athetosis, Hydranencephaly, Pachygyria... OMIM:605013
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Metaphyse... ORPHA:536471
Mitochondrial Neurogastrointestinal Encephalomyopathy
Peripheral axonal neuropathy, Demyelinating peripheral neuropathy, Decreased number of large peri... ORPHA:298
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Short stature, Abnormality of the dentition, Synophrys, Macrotia... ORPHA:391307
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Abnormality of the sense of smell OMIM:146110
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Sparse hair, Hypoplasia of the primary ... OMIM:257850
Bardet-Biedl Syndrome 19
Hyposmia, Hypoplasia of the corpus callosum OMIM:615996
Global Developmental Delay With Or Without Impaired Intellectual Development
Poor fine motor coordination, Bulbous nose, Lateral ventricle dilatation OMIM:618330
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Pontocerebellar Hypoplasia, Type 13
Anteverted nares, Microcephaly, Inability to walk, Gait ataxia, Lateral ventricle dilatation, Hyp... OMIM:618606
Dpm1-Cdg
Hepatomegaly, Tented upper lip vermilion, Sandal gap, Elevated circulating creatine kinase concen... ORPHA:79322
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Anteverted nares, Prominent nasal bridge, Microcephaly, ... OMIM:617751
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Depressed nasal bridge, Microcephaly, Focal polymicrogyria, Dysplastic corpus... OMIM:619103
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Hypospadias, Wide anterior fonta... OMIM:619736
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Carious teeth, Postnatal growth retardation, ... ORPHA:93324
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Metaphyseal dysplasia, Mixed hearing impairment, Flared metaphysis, Delaye... OMIM:218400
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Recon Progeroid Syndrome
Joint laxity, Smooth philtrum, Prominence of the premaxilla, Attached earlobe, Arachnodactyly, De... OMIM:620370
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell ORPHA:1135
Acromesomelic Dysplasia 3
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... OMIM:609441
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Microg... ORPHA:280365
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomegaly, Stiff interphalangeal joints, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogo... ORPHA:465508
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn... OMIM:616300
Osteogenesis Imperfecta, Type Vii
Osteopenia, Crumpled long bones, Rhizomelia, Recurrent fractures, Femoral retroversion, Bowing of... OMIM:610682
Charcot-Marie-Tooth Disease Type 4C
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Frequent falls, Impai... ORPHA:99949
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Ankle clonus, L... OMIM:619995
Cockayne Syndrome B
Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone... OMIM:133540
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Hypoammonemia, Micrognathia, Deep ph... ORPHA:534
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Short philtrum, Condu... ORPHA:819
Spondyloenchondrodysplasia
Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Shor... ORPHA:1855
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Short stature, Micrognathia, Postnatal growth retardation, Cryptorchid... ORPHA:96184
Macrocephaly/Autism Syndrome
Joint laxity, Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, D... OMIM:605309
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility ORPHA:2582
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Hyperhidrosis, Cu... OMIM:101200
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Bone pain, Anemia, Pathologic fracture, Avascular necr... OMIM:230800
Atypical Werner Syndrome
Sclerosis of hand bone, Micrognathia, Abnormal hair whorl, Reduced bone mineral density, Finger c... ORPHA:79474
Short Stature, Microcephaly, And Endocrine Dysfunction
Lymphopenia, Short stature, Cryptorchidism, Sensorineural hearing impairment, Tooth malposition, ... OMIM:616541
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... ORPHA:93346
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Bowing of the legs, Micrognathia, Flexion contracture, Cryptorchidism, Short ribs, Lo... ORPHA:1865
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Partial agenesis of the corpus callosum, Optic atrophy, Vocal cord paralysis, Dysphagia, Increase... ORPHA:500144
Rin2 Syndrome
Brachydactyly, Joint hypermobility, Increased susceptibility to fractures ORPHA:217335
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Fle... ORPHA:666
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:616816
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Synophrys, Hirsutism, Gingival overgrowt... ORPHA:2026
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormality of the dentition, Conical toot... ORPHA:2228
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Clitoral hypoplasia, Short palm, Micro... OMIM:268310
Immunodeficiency 54
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Adrenocorticotropic horm... OMIM:609981
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Hepatomegaly, Severe short stature, Short stature, Hearing impairment,... OMIM:309900
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Synophrys, Gingiv... ORPHA:2025
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Sparse scalp hair, Small scrotum, Short stature, Clit... ORPHA:85201
Atelosteogenesis, Type Ii
Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof, Short greater sciatic ... OMIM:256050
4H Leukodystrophy
Delayed eruption of teeth, Hypogonadotropic hypogonadism, Decreased response to growth hormone st... ORPHA:289494
Desmosterolosis
Failure to thrive, Posteriorly rotated ears, Rhizomelia, Micrognathia, Generalized osteosclerosis... OMIM:602398
Achondroplasia
Rhizomelia, Hearing impairment, Hip joint hypermobility, Bowing of the legs, Short proximal phala... ORPHA:15
Angioedema, Hereditary, 1
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Pseudoachondroplasia
Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fra... OMIM:177170
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice,... OMIM:612714
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Per... ORPHA:46627
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Thro... ORPHA:507
Kabuki Syndrome 2
Micrognathia, Protruding ear, High palate, Prominent fingertip pads, Joint laxity, Short stature,... OMIM:300867
Myelofibrosis
Myelofibrosis, Splenomegaly, Myeloproliferative disorder OMIM:254450
Incontinentia Pigmenti
Delayed eruption of teeth, Finger syndactyly, Alopecia, Abnormal dental morphology, Camptodactyly... ORPHA:464
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Cachexia, Sparse eyebrow, Abn... ORPHA:884
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... OMIM:600373
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Sensor... OMIM:609616
Craniolenticulosutural Dysplasia
Osteopenia, Brittle hair, Coarse hair, High palate, Sparse hair, Bifid uvula, Joint laxity, Short... OMIM:607812
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Severe periodontitis, Microcytic anemia, Deep philtrum, Low anterior hairl... ORPHA:99843
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Impaired vibratory sensation, Pain insensitivity, Impaired temperature sensation, Hypoesthesia, I... OMIM:616488
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture OMIM:616867
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Highly arched eyebrow, Short thumb, 2-3... ORPHA:2712
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Patchy alopecia, Microt... OMIM:141300
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentra... ORPHA:79240
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Flexion contracture, Short finger, Increased susceptibility to fractures OMIM:312150
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hepatomegaly, Hamartoma of tong... OMIM:269860
Image Syndrome
Metaphyseal dysplasia, Hypospadias, Micromelia, Cryptorchidism, Hypogonadism, Low-set ears, Intra... ORPHA:85173
Acromicric Dysplasia
Short metacarpal, Severe short stature, Narrow mouth, Deep philtrum, Thick lower lip vermilion, C... OMIM:102370
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Abnormal metatarsal morphology, Rhizo-meso-acromelic limb shortening, Thick upper lip vermilion, ... ORPHA:163654
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up... OMIM:225500
Frank-Ter Haar Syndrome
Osteopenia, Bowing of the long bones, Cortical irregularity, Metatarsus adductus, Wide anterior f... OMIM:249420
Cockayne Syndrome Type 2
Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Hearing impairment, Crypt... ORPHA:90322
De Barsy Syndrome
Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Short stature, Postnatal growt... ORPHA:2962
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Joint laxity, Short stature, Coxa valga, Pierre-Robin sequence, Advanced ossification of carpal b... OMIM:620269
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Joint laxity, Short stature, Frontal open bite, Micrognathia, Postnatal growth retard... OMIM:225410
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Bardet-Biedl Syndrome 17
Poor coordination, Anosmia, Cognitive impairment, Hyposmia, Polydipsia OMIM:615994
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... ORPHA:3429
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Rocker bottom foot, Posteriorly rotated ears, Wide mouth, Delayed erupti... OMIM:618506
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Dental crowding, Short stature, Highly arched eyebrow, Sag... OMIM:145420
Kleefstra Syndrome 1
Mandibular prognathia, U-Shaped upper lip vermilion, Natal tooth, Abnormal pinna morphology, Hypo... OMIM:610253
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Neutrophilia, Swelling of proximal interphalangeal joints, Eosinophilia, Generaliz... ORPHA:3260
Thrombocytopenia 6
Myelofibrosis, Osteoporosis, Thrombocytopenia OMIM:616937
Otodental Syndrome
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Abnormal dental ename... ORPHA:2791
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Septic ar... OMIM:617780
Weill-Marchesani Syndrome 1
Thin bony cortex, Joint stiffness, Broad phalanges of the hand, Broad metacarpals, Broad metatars... OMIM:277600
Acrofacial Dysostosis, Weyers Type
Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Advanced eru... ORPHA:952
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Submucous cleft hard palate, Cl... ORPHA:2250
Wilson Disease
Hepatomegaly, Acute hepatitis, Abnormality of the menstrual cycle, Splenomegaly, Jaundice, Increa... ORPHA:905
Short Syndrome
Joint laxity, Enlarged epiphyses, Delayed eruption of teeth, Small for gestational age, Micrognat... OMIM:269880
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Coxa vara, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Microdontia, Preco... ORPHA:2637
Hyperostosis Cranialis Interna
Hyposmia, Anosmia, Optic atrophy, Facial palsy OMIM:144755
Schneckenbecken Dysplasia
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... OMIM:269250
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Mild postnatal growth retardation, Proximal femo... ORPHA:168549
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Ventriculomegaly, Short attention span, Ataxia, Microcephaly, Tremor, Inab... OMIM:619229
Multiple Myeloma
Osteopenia, Increased circulating IgA level, Splenomegaly, Bone pain, Decreased circulating antib... ORPHA:29073
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Sensorineural hearing impairment, Gingival fibromatosis, Gingival over... ORPHA:2027
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Dysmenorrhea, Increased body weight, Hepatic ... ORPHA:264580
Weiss-Kruszka Syndrome
Anteverted nares, Colpocephaly, Hypoplasia of the corpus callosum, Short nose, Agenesis of corpus... OMIM:618619
Hallermann-Streiff Syndrome
Micrognathia, High, narrow palate, Reduced bone mineral density, Glossoptosis, Sparse hair, Clino... ORPHA:2108
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Microcephaly, Anosmia, Short nose, Short nasal septum OMIM:302950
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Langer Mesomelic Dysplasia
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/... ORPHA:2632
Achondrogenesis Type 1B
Severe short stature, Micromelia, Micrognathia, Abnormal enchondral ossification, Disproportionat... ORPHA:93298
Sclerosteosis 1
Mandibular prognathia, Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Irregular menstruat... OMIM:269500
Arthrogryposis, Distal, Type 2A
Hip contracture, Flexion contracture of finger, Recurrent fractures, Shoulder flexion contracture... OMIM:193700
Thoracomelic Dysplasia
Abnormal fibula morphology, Genu valgum, Low posterior hairline, Joint hyperflexibility, Abnormal... ORPHA:1803
Osteogenesis Imperfecta, Type Xv
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility OMIM:615220
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,... ORPHA:457395
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Hypothyroidism, H... ORPHA:231226
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Tibial bowing, Sho... OMIM:601812
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Spastic tetraparesis, Microcephaly, Dysplastic corpus callosum, Wide nasa... OMIM:619179
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, Growth delay, T lymphocytopenia, B lympho... ORPHA:169079
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Short stature, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyse... OMIM:300863
Amoebiasis Due To Free-Living Amoebae
Restlessness, Ataxia, Facial palsy, Confusion, Abnormal basal ganglia morphology, Hemiparesis, Ab... ORPHA:68
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Carious teeth,... OMIM:617102
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Splenomegaly, Rickets OMIM:211600
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr... ORPHA:3000
Achondrogenesis, Type Ib
Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Absent or minimally ossified vertebral bodi... OMIM:600972
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Short ribs, Limb under... OMIM:618961
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Short stature, Craniosynostosis, Micrognathia, Micromelia, Split hand, Cleft p... ORPHA:2145
Sotos Syndrome
Mandibular prognathia, High, narrow palate, Increased body weight, High palate, Otitis media, Con... OMIM:117550
Dubowitz Syndrome
Aplastic anemia, Micrognathia, Protruding ear, High palate, Otitis media, Hypocholesterolemia, Cl... OMIM:223370
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Abnormal cerebral white matter morphology, Lateral ve... ORPHA:457279
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo... OMIM:614008
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Delayed CNS myelination, Lateral ventricle dilatation, Multifocal cerebral wh... OMIM:600721
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Proportionate short stature, Precocious puberty, Short toe, Sensorineural hearing imp... OMIM:619269
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Low-set ears ORPHA:436151
Meningioma
Papilledema, Hemifacial spasm, Abnormal central motor function, Ataxia, Facial palsy, Hydrocephal... ORPHA:2495
Achondrogenesis
Severe short stature, Micromelia, Micrognathia, Abnormal enchondral ossification, Abnormality of ... ORPHA:932
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m... ORPHA:324964
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Flexion contracture, Short finger, Increased susceptibility to fractures OMIM:253290
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... OMIM:118400
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Anteverted nares, Ataxia, Microcephaly, Tremor, Partial agenesis of the corpus callosum, Wide nas... OMIM:220111
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, High pala... ORPHA:443811
Hydrocephalus, Congenital, X-Linked
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Corticospinal t... OMIM:307000
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Congenital hip dislocation, Limb joint contracture, Coxa valga, Splenomegaly, Achilles tendon con... ORPHA:404454
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... OMIM:180700
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... OMIM:618019
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular leukomalacia, Ataxia, Periventricular cysts, Hypoplasia of the corpus callosum, S... ORPHA:255138
Kleefstra Syndrome
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Synophrys, Downturned cor... ORPHA:261494
Holoprosencephaly
Encephalocele, Aplasia/Hypoplasia involving the nose, Anteverted nares, Choanal atresia, Microcep... ORPHA:2162
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Distal Renal Tubular Acidosis
Hemolytic anemia, Osteomalacia, Rickets, Bone pain, Increased susceptibility to fractures, Reduce... ORPHA:18
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Brittle hair, Short stature, Hypoplasia of the maxilla, Carious teeth,... ORPHA:50814
Emanuel Syndrome
Broad jaw, Congenital hip dislocation, Dental crowding, Delayed eruption of primary teeth, Microg... OMIM:609029
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Anosmia, Polyphagia OMIM:617885
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, External genital hypoplasia, Patellar hypoplasia, Protru... ORPHA:3041
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S... OMIM:234100
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Sparse hair, Microdontia, Decreased cir... OMIM:620005
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Portal hypertension, Cryptorchidism, Anemia, Premature graying of hair, Nail dystroph... OMIM:620365
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb shortening, Hypop... OMIM:611717
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Alopecia, Short stature, Postnatal growth retardation, Osteoporosis, Rickets, ... OMIM:212750
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Optic atrophy, Gait ataxia, Hyp... ORPHA:255210
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Perisylvian polymicrogyria, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Spin... OMIM:618291
Beta-Thalassemia Major
Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hypothyroidism, Hyperplasia of ... ORPHA:231214
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Hypochromic microcytic anemia, CNS hypomyelination, Secondary microce... OMIM:619423
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, Short metaca... OMIM:108720
Three M Syndrome 2
Delayed eruption of teeth, Severe short stature, Small for gestational age, Short stature, Dental... OMIM:612921
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Hallux valgus, Bowing of the long bones, Multiple joint contractures, Arachnodactyly,... ORPHA:536467
Kyphomelic Dysplasia
Bowing of the long bones, Micromelia, Joint stiffness, Micrognathia, Missing ribs, Limitation of ... ORPHA:1801
Mucolipidosis Ii Alpha/Beta
Osteopenia, Metaphyseal widening, Split hand, Flat acetabular roof, Flared iliac wing, Limitation... OMIM:252500
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... ORPHA:3103
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Failure to thrive in infancy, Oligoarthritis, Growth delay, Decreased circulating to... OMIM:619510
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Fg Syndrome Type 1
Dental crowding, Micrognathia, Generalized joint laxity, Fused teeth, High palate, Abnormal socia... ORPHA:93932
Robinow Syndrome
Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Orofacial cleft, Clito... ORPHA:97360
Autoimmune Hypoparathyroidism
Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, H... ORPHA:36913
Cyclic Neutropenia
Premature loss of permanent teeth, Sinusitis, Cyclic neutropenia, Perianal abscess, Cervical lymp... ORPHA:2686
Distal Deletion 10Q
Ataxia, Prominent nasal bridge, Clonus, Prominent nose, Microcephaly, Aggressive behavior, Unstea... ORPHA:96148
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia, Abnormal cranial nerve morphology ORPHA:2057
Lymphangiectasia, Intestinal
Lymphopenia, Abnormal hair morphology, Stillbirth, Intestinal lymphangiectasia, Decreased circula... OMIM:152800
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dila... OMIM:618914
Alg12-Cdg
Proximal placement of thumb, Micrognathia, Hypoalbuminemia, Short philtrum, Abnormal bone ossific... ORPHA:79324
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Aggressive behavior, Dysplastic corpus callosum, Bulbous nose, Periventricular cysts, Thick corpu... ORPHA:544488
Anti-Glomerular Basement Membrane Disease
Arthritis, Anemia, Persistence of primary teeth ORPHA:375
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Microcephaly, Optic atrophy, Simplified gyral pattern, Myoclonus, Dyspha... OMIM:617669
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Short stature, Bowing of the legs, Disproportionate short-limb short stature, Limb undergrowth, L... ORPHA:156728
Cartilage-Hair Hypoplasia
Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Neutropenia, Short palm, Spa... OMIM:250250
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Crypto... ORPHA:3121
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplastic cervical verteb... ORPHA:56304
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Hepatomegaly, Short stature, H... OMIM:253200
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal pelvis bone morphology, Metrorrhagia, Abnormal humerus morp... ORPHA:464329
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulati... OMIM:612852
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Absent septum pellucidum, Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Holoprosenc... ORPHA:2182
X-Linked Intellectual Disability, Wilson Type
Delayed myelination, Lateral ventricle dilatation, Microcephaly ORPHA:85290
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Everted upper lip vermilion, Hypohidrosis, Everted lower lip vermilion... ORPHA:181
Spondyloocular Syndrome
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Thin bony co... OMIM:605822
Refsum Disease, Classic
Somatic sensory dysfunction, Anosmia, Ataxia OMIM:266500
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Hepatomegaly, Limb joint contracture, Short stature, Tapered finger, S... OMIM:301072
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Increased density of long bones, Tibial bowing, Hypoplasia of first ribs, Hepatobl... OMIM:269150
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormal femur mo... ORPHA:429
Prader-Willi Syndrome
Osteopenia, Small hand, Osteoporosis, Increased susceptibility to fractures, Short foot, Hip dysp... ORPHA:739
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Abnormality of the dentition, Hypothyroidism, Pitu... ORPHA:733
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Disproportionate short sta... OMIM:617425
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Micrognathia, Metap... OMIM:224400
Dyskeratosis Congenita
Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Hyperhidrosis, Premature grayi... ORPHA:1775
Distal Deletion 17Q
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Hepatomegaly, Abnormality of ... ORPHA:1597
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, External genital hypoplasia, Large for gestati... ORPHA:96334
Even-Plus Syndrome
Bifid nasal tip, Dysplastic corpus callosum, Depressed nasal ridge, Short nose, Agenesis of corpu... OMIM:616854
Fanconi Anemia, Complementation Group I
Absent septum pellucidum, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Neutropenia, Agenes... OMIM:609053
Desbuquois Dysplasia 2
Dental crowding, Metaphyseal widening, Synophrys, Short phalanx of finger, Bifid uvula, Genu varu... OMIM:615777
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Microcephaly, Anosmia, Pyrif... OMIM:147250
Brachydactyly, Type E2
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Oligodontia, Brachy... OMIM:613382
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Hearing ... OMIM:618150
Gillessen-Kaesbach-Nishimura Syndrome
Ulnar deviation of the hand, Posteriorly rotated ears, Micrognathia, Frontotemporal hypertrichosi... OMIM:263210
Vascular Malformation, Primary Intraosseous
Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia OMIM:606893
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Anosmia, Bifid nose OMIM:614838
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly OMIM:611263
Dermatitis Herpetiformis
Bone pain, Recurrent fractures, Microcytic anemia ORPHA:1656
Familial Papillary Or Follicular Thyroid Carcinoma
Bone pain, Recurrent fractures ORPHA:319487
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli... OMIM:300373
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Cerebellar atrophy, Salt craving, Ataxia, Dysdiadochokinesis, Peripheral hypomyelination, Chronic... OMIM:612780
Chiari Malformation Type Ii
Ataxia, Spina bifida, Hydrocephalus, Myelomeningocele, Opisthotonus, Cervical myelopathy, Dysphag... OMIM:207950
Lysinuric Protein Intolerance
Recurrent fractures, Splenomegaly, Delayed skeletal maturation, Osteoporosis, Anemia, Leukopenia,... OMIM:222700
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Refsum Disease
Ataxia, Splenomegaly, Hemiplegia/hemiparesis, Anosmia, Abnormal pyramidal sign ORPHA:773
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Joint hyperflexibility, Abnor... ORPHA:2050
Weill-Marchesani Syndrome 2
Short metacarpal, Thin bony cortex, Joint stiffness, Delayed skeletal maturation, Elbow flexion c... OMIM:608328
Insulin-Like Growth Factor I Deficiency
Osteopenia, Short stature, Elevated circulating growth hormone concentration, Micrognathia, Postn... OMIM:608747
Schimke Immuno-Osseous Dysplasia
Neutropenia, Microdontia, Short stature, Abnormal primary molar morphology, Decreased proportion ... ORPHA:1830
4Q21 Microdeletion Syndrome
Toe syndactyly, Micromelia, Abnormality of the dentition, Synophrys, Small hand, Short foot, Down... ORPHA:238750
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal dysplasia, Short stature, Short iliac bones, Metaphyseal sclerosis, Autoimmune thromb... OMIM:607944
8P Inverted Duplication/Deletion Syndrome
Frontal balding, Micrognathia, Precocious puberty, Long fingers, Cryptorchidism, Synophrys, Hip d... ORPHA:96092
Hereditary Sensory And Autonomic Neuropathy Type 5
Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, P... ORPHA:64752
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Prominent nasal bridge, Anisocytosis, Microcephaly, Dysplastic corpus callosum, Hypertonia OMIM:604273
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Sandal gap, Broad hallux, Short stature, Micromelia, Postnatal growth retardation, Hy... OMIM:614800
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Thin bony cortex, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull b... OMIM:619727
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short lingual frenulum, Micromelia, Fused teeth, High palate, Hepatic fibrosis, Sparse hair, Micr... OMIM:614091
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... OMIM:608728
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Abnormality of hair texture, Dental malocclusion, Short first... OMIM:601957
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Dental crowding, Micrognathia, Cleft hard palate, Synophrys, Conductive hearing impairment, Clino... OMIM:300990
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Osteoporosis, U... ORPHA:94068
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Depressed nasal bridge, Hydrocephalus, Head-banging, Self-injurious behavio... OMIM:619575
Marcus-Gunn Syndrome
Choanal atresia, Abnormal fifth cranial nerve morphology, Abnormality of the sense of smell ORPHA:91412
Systemic Lupus Erythematosus 17
Alopecia, Autoimmune thrombocytopenia, Oral ulcer, Leukopenia, Lymphopenia, Thrombocytopenia OMIM:301080
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Uplifted earlobe, Large for gestational age, Clinodactyly, Short philtrum, Widely spaced teeth, S... OMIM:280000
Metaphyseal Acroscyphodysplasia
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Severe short stature, ... ORPHA:1240
Hereditary Geniospasm
Abnormal lower lip morphology, Abnormal social behavior ORPHA:53372
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Peripheral axonal neuropathy, Anteverted nares, Dysplastic corpus callosum, Wide nasal bridge, Sp... OMIM:618810
Kagami-Ogata Syndrome
Hepatomegaly, Coxa valga, Micrognathia, Splenomegaly, Long fingers, Flexion contracture, Hypoplas... OMIM:608149
Schinzel-Giedion Syndrome
Micrognathia, Abnormality of the gingiva, Tibial bowing, Short philtrum, High palate, Hepatoblast... ORPHA:798
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Protruding ear, Finger clinodactyly, High p... ORPHA:2751
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Wid... OMIM:143095
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge, Frontalis muscle weakness OMIM:210745
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Short metacarpal, Rhizomelia, Highly arched eyebrow, Sparse eyebrow, F... ORPHA:263463
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myelofibrosis, Acute myeloid leukemia, Chronic myelomonocytic leukemia OMIM:616604
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Micrognathia, Downturned corners of mouth, Sparse hair, Conductive hearing impair... OMIM:620186
Microphthalmia, Lenz Type
Delayed eruption of teeth, Finger syndactyly, Low-set, posteriorly rotated ears, Abnormal dental ... ORPHA:568
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Short attention span, Anteverted nares, Hydrocephalus, Lateral ventricle dilatati... OMIM:612863
Cornelia De Lange Syndrome
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Micromelia, Synophrys, Low anteri... ORPHA:199
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious pub... OMIM:300200
Beta-Mercaptolactate Cysteine Disulfiduria
Low-set, posteriorly rotated ears, Sandal gap, Arachnodactyly, Short stature, Micromelia, Obesity... ORPHA:1035
Microcephalic Primordial Dwarfism, Dauber Type
Short stature, Abnormal carpal morphology, Obesity, Primary amenorrhea, Bilateral breast hypoplas... ORPHA:319675
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Clonus, Microcephaly, Oral-pharyngeal dysphagia, Poor coordination, Optic atrophy, Spasti... OMIM:616878
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Low anterior hairline,... OMIM:135500
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Delayed CNS myelination, Microcephaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis ... OMIM:617260
Lathosterolosis
Toe syndactyly, Increased mean platelet volume, Acanthocytosis, Postaxial hand polydactyly, Schis... OMIM:607330
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Sparse scalp hair, Posteriorly rotated ears, Decreased response to gro... OMIM:615866
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Elevated hemoglobin A1c, Abnormality of the sense of smell OMIM:616113
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Absent radius, Conductive hearing ... OMIM:171480
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Osteoporosis, Increased susceptibility to fractures ORPHA:189427
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Recurrent fractures, Craniosynostosis ORPHA:251004
Noonan Syndrome 12
11 pairs of ribs, Decreased response to growth hormone stimulation test, Proximal placement of th... OMIM:618624
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Dental crowding, Downturned corners of mouth, Short sta... ORPHA:261323
Congenital Disorder Of Glycosylation, Type Iib
Recurrent fractures, Decreased circulating antibody level, Hand clenching, Overlapping fingers, D... OMIM:606056
Johnson Neuroectodermal Syndrome
Choanal atresia, Facial palsy, Microcephaly, Bulbous nose, Anosmia ORPHA:2316
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Macrotia, Elevated circulating creatine kinase concentration, Fine hair OMIM:272300
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... ORPHA:199306
Amish Lethal Microcephaly
Spina bifida, Microcephaly, Optic atrophy, Irritability, Lissencephaly, Agenesis of corpus callos... ORPHA:99742
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Growth de... OMIM:616005
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Pathologic fracture, Joint contracture of... OMIM:263700
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Short stature, Splenomegaly, Postaxial hand polydactyly, Obesity, Cone-shaped epiph... OMIM:615630
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Precocious puberty, Narrow mouth, Delayed eruption of permanent teeth, Short distal... OMIM:619356
Basel-Vanagaite-Smirin-Yosef Syndrome
Anteverted nares, Microcephaly, Aggressive behavior, Inability to walk, Cerebral atrophy, Lateral... ORPHA:464738
Melnick-Needles Syndrome
Obtuse angle of mandible, Micrognathia, Tibial bowing, Coarse hair, Frontal hirsutism, Cone-shape... OMIM:309350
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... OMIM:615873
Classic Homocystinuria
Arachnodactyly, Recurrent fractures, Joint stiffness, Osteoporosis, Genu valgum ORPHA:394
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Severe short stature, Micromelia, Increased skull ossificatio... ORPHA:1422
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Recurrent fractures ORPHA:97290
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Aplasia/Hypoplasia of the fibula,... ORPHA:2256
Barber-Say Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat... OMIM:209885
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... OMIM:187900
Severe Congenital Nemaline Myopathy
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture, Adducted thumb ORPHA:171430
Mulibrey Nanism
Thickened cortex of long bones OMIM:253250
Endocrine-Cerebroosteodysplasia
Small scrotum, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, Sex reversal, Micro... OMIM:612651
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Ataxia, Abnormal den... OMIM:214500
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Preaxial polydactyly, Narrow greater sciatic notch, Neonatal death, Short tibia, Mi... OMIM:617925
Combined Oxidative Phosphorylation Deficiency 12
Delayed CNS myelination, Spastic tetraparesis, Dysplastic corpus callosum, Babinski sign, Leukoen... OMIM:614924
Williams Syndrome
Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Micrognathia... ORPHA:904
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Ventriculomegaly, Depressed nasal bridge, Absent septum pellucidum, Meni... ORPHA:397715
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, Tented upper lip vermilion, Decreased response to growth hormone stimulati... ORPHA:488632
Rhyns Syndrome
Osteopenia, Radial bowing, Short stature, Decreased response to growth hormone stimulation test, ... OMIM:602152
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Cenani-Lenz Syndrome
Micromelia, High, narrow palate, Protruding ear, Foot oligodactyly, Short philtrum, Hypothyroidis... ORPHA:3258
Grange Syndrome
Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Brac... OMIM:602531
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Sparse scalp hair, Natal tooth, Sparse eyelashes, Short stature, Sparse eyebrow, Cranial hyperost... OMIM:601345
Kallmann Syndrome With Spastic Paraplegia
Spastic paraplegia, Anosmia, Ataxia OMIM:308750
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoi... ORPHA:331206
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, F... ORPHA:169160
Hereditary Sensory And Autonomic Neuropathy Type 1
Limb pain, Pathologic fracture, Osteomyelitis ORPHA:36386
Prolactinoma
Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Vertigo, Osteoporosis, Decreased fe... ORPHA:2965
Kniest Dysplasia
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Aplasia/hypoplasia of the e... ORPHA:485
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hyposmia, Anosmia OMIM:612702
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Joint stiffness, Avascular necrosis of the capital femoral epiphysis, ... ORPHA:581
Jeune Syndrome
Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly... ORPHA:474
16Q24.3 Microdeletion Syndrome
Anteverted nares, Optic nerve hypoplasia, Thrombocytopenia, Colpocephaly, Increased mean corpuscu... ORPHA:261250
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Brittle hair, Dental crowding, Joint hypermobility, Hypospadias, Joint stiffnes... OMIM:619184
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hyposmia, Anosmia OMIM:610628
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Microcephaly, Abnormality of the sense of smell ORPHA:3201
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Mandibular prognathia, Congenital hip dislocation, Decreased response to growth hormo... OMIM:616007
Classic Pantothenate Kinase-Associated Neurodegeneration
Increased susceptibility to fractures ORPHA:216866
Hypochondroplasia
Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f... OMIM:146000
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Natal tooth, Hypogonadotropic hypogonadism, Short stature, Hip disloca... OMIM:614381
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal synostosis, Abnormal morp... ORPHA:2639
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Aplastic anemia, Carious teeth, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Prema... OMIM:127550
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum, Anemia OMIM:620135
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Hepatomegaly, Hypertriglyceridemia, Sinusitis, Thrombocytopenia, Splenomegaly, Flexi... OMIM:617591
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Cousin Syndrome
Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Low anterior hairline, Am... OMIM:260660
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Ataxia, Microcephaly, Unsteady gait, Neurodegeneration, Dysphagia OMIM:615919
Hajdu-Cheney Syndrome
Osteopenia, Joint laxity, Osteoporosis, Foot acroosteolysis, Osteolytic defects of the phalanges ... OMIM:102500
Neu-Laxova Syndrome
Osteopenia, External genital hypoplasia, Micromelia, Micrognathia, Flexion contracture, Bifid uvu... ORPHA:2671
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Long nose, Bulbous nose, Partial agenesis of the corpus callosum, Colpocephaly, Secondary microce... OMIM:620113
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral nerve morphology by anatomical site, Steppage gait, Abnormal peripheral myeli... ORPHA:168563
Reni Syndrome
Hypertriglyceridemia, Cryptorchidism, Sensorineural hearing impairment, Hypogonadism, Hypoalbumin... OMIM:617575
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Sparse scalp hair, Natal tooth, Sparse eyelashes, Short stature, Sagittal craniosynostosis, Micro... OMIM:616901
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Delayed skeletal maturation, Small hand, Short foot, Spina bifida occulta, Thickened ... ORPHA:488434
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Nasal polyposis, Asplenia, Anosmia, Chronic rhinitis OMIM:244400
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hyposmia, Anosmia, Ataxia OMIM:308700
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depre... ORPHA:100924
Wilson Disease
Hemolytic anemia, Poor motor coordination, Tremor, Splenomegaly, Hypoesthesia, Rigidity, Hand tre... OMIM:277900
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Brain abscess, Severe short stature, Rhizomelia, Wide anterior fontanel, Disproportionate short s... OMIM:616482
Kallmann Syndrome
Delayed skeletal maturation, Recurrent fractures, Reduced bone mineral density ORPHA:478
Slc39A8-Cdg
Osteopenia, Abnormal blood zinc concentration, Failure to thrive in infancy, Craniosynostosis, Sh... ORPHA:468699
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Joint laxity, Curly hair, Sparse scalp hair, Posteriorly rotated ears, Short statu... OMIM:607721
Hajdu-Cheney Syndrome
Osteopenia, Coarse metaphyseal trabecularization, Brachydactyly, Bowing of the long bones, Recurr... ORPHA:955
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Thin upper lip vermilion, Highly arched eyebrow, Micrognathia, Postnatal ... OMIM:619135
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed eruption of teeth, Hypogonadotropic hypogonadism, Short stature, Oligodontia, Hypodontia,... ORPHA:447896
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... OMIM:200600
Gardner Syndrome
Neoplasm of the pancreas, Abnormality of the dentition, Supernumerary tooth, Odontoma, Multiple u... ORPHA:79665
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hyp... OMIM:616367
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Perianal abscess, Splenomegaly, Lym... OMIM:618935
Thanatophoric Dysplasia
Hearing impairment, Joint stiffness, Micromelia, Abnormal sacroiliac joint morphology, Joint hype... ORPHA:2655
Cerebrofacioarticular Syndrome
Ataxia, Microcephaly, Bilateral choanal atresia/stenosis, Dysplastic corpus callosum, Wide nasal ... ORPHA:314679
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... OMIM:210710
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... OMIM:609945
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Severe short stature, Posteriorly rotated ears, Micromelia, Micrognathi... OMIM:224410
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... OMIM:210720
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short stature, Micromelia, Co... ORPHA:63446
Incontinentia Pigmenti
Delayed eruption of teeth, Alopecia, Short stature, Eosinophilia, Supernumerary nipple, Conical t... OMIM:308300
Neuropathy, Hereditary Sensory And Autonomic, Type V
Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury, Septic arth... OMIM:608654
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Rickets OMIM:607765
Familial Dysautonomia
Avascular necrosis, Osteolysis, Recurrent fractures ORPHA:1764
Primary Intestinal Lymphangiectasia
Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Weight loss, Decreased ci... ORPHA:90362
Noonan Syndrome 14
Curly hair, Posteriorly rotated ears, Short stature, Sparse eyebrow, Cryptorchidism, High, narrow... OMIM:619745
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum, Unsteady gait, Sensory axonal neuropathy, Peripheral hypomyelination OMIM:618733
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Stickler Syndrome
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Reduced bone mineral density, Glossoptos... ORPHA:828
Rabson-Mendenhall Syndrome
Mandibular prognathia, Dental crowding, Low anterior hairline, Premature graying of hair, High pa... ORPHA:769
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hyposmia, Anosmia OMIM:244200
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, S... ORPHA:2636
Spondylometaphyseal Dysplasia, A4 Type
Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Short palm ORPHA:168555
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Short stature, Uplifted earlobe, Large for gestational age, Tapered finger, Abnormal... ORPHA:261652
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration, Cognitive... OMIM:146500
Fanconi-Bickel Syndrome
Osteopenia, Bowing of the long bones, Rickets ORPHA:2088
Aural Atresia, Congenital
Hyposmia OMIM:607842
Apnea, Obstructive Sleep
Anosmia OMIM:107650
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells... ORPHA:276
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Aspartylglucosaminuria
Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Delayed skeletal maturation, Arthriti... ORPHA:93
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Failure to thrive, Severe B lymphocytopenia, Lymphopenia, Apla... OMIM:102700
Oculoskeletodental Syndrome
Depressed nasal bridge, Dysplastic corpus callosum, Wide nasal bridge, Thick nasal alae, Focal wh... ORPHA:557003
Immunodeficiency 31C
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anem... OMIM:614162
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Dental crowding, Highly arched eyebrow, Tapered finger, Wide mouth, Hi... OMIM:618825
Pallister-Hall-Like Syndrome
Toe syndactyly, Median cleft lip, Short stature, Micromelia, Micrognathia, Postaxial hand polydac... OMIM:241800
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Advanced eruption of teeth, Low-s... ORPHA:818
Meckel Syndrome, Type 1
External genital hypoplasia, Micrognathia, Asplenia, Ambiguous genitalia, female, Lobulated tongu... OMIM:249000
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Elevated circulating C-reactive protein concentration, Increased circulating IgA lev... OMIM:615934
Familial Adenomatous Polyposis 1
Carious teeth, Supernumerary tooth, Eruption failure, Odontoma, Hepatoblastoma OMIM:175100
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Recurrent otitis media, Recurrent sinusitis, D... OMIM:615518
Hsd10 Disease
Postnatal growth retardation, Abnormal social behavior, Hearing impairment ORPHA:391417
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Small e... OMIM:264090
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal hair quantity, Decreased circulating antibody level, Clinodactyly of the 5th finger, Lym... ORPHA:1116
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Prominent nose, Bulbous nose, Choroid plexus cyst, Depressed nasal tip, Lateral ventricle dilatat... ORPHA:293725
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Recurrent fractures, Joint hypermobility OMIM:619120
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Metaphyseal irregularity, Recurrent fractures, Anemia OMIM:239200
Gabriele-De Vries Syndrome
Waddling gait, Delayed CNS myelination, Broad nasal tip, Tremor, Cortical dysplasia, Lateral vent... OMIM:617557
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Adnp Syndrome
Abnormal finger morphology, Protruding ear, Advanced eruption of teeth, Joint laxity, Broad hallu... ORPHA:404448
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Micromelia, Joint stiffness, ... ORPHA:2249
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Bone pain OMIM:259900
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Bone pain, Rickets OMIM:612089
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Dental crowding, Proximal placement of thumb, Micrognathia, Microme... OMIM:270400
Bloom Syndrome
Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, P... OMIM:210900
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Sinusitis, Female hypogonadism, ... OMIM:208900
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly... OMIM:616100
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... ORPHA:198
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Tarsal synostosis, Camptodactyly of finger, Micro... ORPHA:2633
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... ORPHA:1106
Menkes Disease
Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Jo... ORPHA:565
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te... OMIM:248370
Wrinkly Skin Syndrome
Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Short stature, Carious teeth, ... ORPHA:2834
Bainbridge-Ropers Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Broa... OMIM:615485
Musk, Inability To Smell
Anosmia OMIM:254150
Vici Syndrome
Elevated circulating creatine kinase concentration, Albinism, Micrognathia, Leukopenia, T lymphoc... OMIM:242840
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... ORPHA:87
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Hurler Syndrome
Anteverted nares, Depressed nasal bridge, Progressive neurologic deterioration, Broad nasal tip, ... OMIM:607014
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Optic atrophy, Lateral ventricle dilatati... OMIM:613154
Andersen-Tawil Syndrome
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Short statu... ORPHA:37553
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the pancreas, White hair, Reduced bone mineral density, Agammaglobulinemia, Fine h... ORPHA:935
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Abnormal epiphysis morphology, Proportionate short stature, Micromelia ORPHA:93283
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Hypertrichosis Cubiti
Severe short stature, Rhizomelia, Micromelia, Abnormal eyelash morphology, Joint hyperflexibility... ORPHA:2220
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elbow contracture, Annular pancreas, 2-3 toe syndactyly, Knee flexion contracture, Ir... OMIM:618162
Mosaic Trisomy 9
Hypoplasia of penis, Abnormal fallopian tube morphology, Camptodactyly of finger, Rocker bottom f... ORPHA:99776
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Micrognathia, High palate, Hypocalcemia, Abnormality of the uterus, Abnormal fallopian tube morph... ORPHA:1655
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Mixed hearing impairment, Short stature, Large tarsal bones, Micrognathia, ... OMIM:215150
Cranioectodermal Dysplasia 2
Cholangitis, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Sparse hai... OMIM:613610
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Split h... ORPHA:2019
Cowden Syndrome 1
Hyperthyroidism, Hearing impairment, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Decrea... OMIM:158350
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, ... ORPHA:79303
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, Small for gestational age, Short stature, Precocious puberty, Long penis, ... OMIM:262190
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Increased circulating guanosin... OMIM:613179
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Genital ulcers, Oral ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... OMIM:200610
Coffin-Siris Syndrome
Low anterior hairline, Hepatoblastoma, Joint laxity, Hypospadias, Cryptorchidism, Prominent eyela... ORPHA:1465
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Anteverted nares, Depressed nasal bridge, Absent septum pellucidum, Microc... OMIM:300868
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Failure to thrive, Posteriorly rotated ears,... OMIM:247200
Charge Syndrome
Bifid scrotum, Abnormal tibia morphology, Hypoplasia of the semicircular canal, Abnormality of bo... ORPHA:138
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Splenomegaly, Optic nerve dysplasia, Optic atrophy, Macrogyria, Hepatosplenom... OMIM:614866
Campomelic Dysplasia
Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel... OMIM:114290
Microphthalmia, Syndromic 2
Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Lat... OMIM:300166
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Abscess, Eosinophilia, Sensorineural hearing impairment, Increased... OMIM:615816
Acromesomelic Dysplasia 4
Mandibular prognathia, Synophrys, Short metatarsal, Short phalanx of finger, Generalized hirsutis... OMIM:619636
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Sparse hair, Microdontia, Microre... OMIM:278250
Microcephaly-Micromelia Syndrome
Craniosynostosis, Absent thumb, Absent radius, Micrognathia, Micromelia, Humeroradial synostosis,... OMIM:251230
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Deep philtrum, Finger joint hypermobility, Sparse hair, Joint laxity, Juvenile myelomonocytic leu... OMIM:613563
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of the odontoi... ORPHA:239
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... ORPHA:2753
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Bone pain, Osteomalacia, Increased susceptibility to fractures ORPHA:3337
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... OMIM:250420
Focal Dermal Hypoplasia
Congenital hip dislocation, Brittle hair, Osteopathia striata, Short metatarsal, Oligodontia, Cli... OMIM:305600
Marshall-Smith Syndrome
Hallux valgus, Decreased hip abduction, Large sternal ossification centers, Recurrent fractures, ... OMIM:602535
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp... OMIM:228520
Xylt1-Cdg
Joint laxity, Hepatomegaly, Short stature, Coxa valga, Synophrys, Flared metaphysis, Cleft palate... ORPHA:370930
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Anteverted nares, Clonus, Narrow nasal tip, Cerebral white matter hypoplasia, Delayed myelination... ORPHA:477993
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, E... ORPHA:3107
Tetrasomy 9P
Glue ear, Dental crowding, Micrognathia, Biliary atresia, Downturned corners of mouth, Inappropri... ORPHA:3310
Immunodeficiency 33
Delayed eruption of teeth, Conical tooth, Increased circulating IgA level, Decreased circulating ... OMIM:300636
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... ORPHA:440354
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Delayed skeletal maturation, Rickets, R... OMIM:613658
Momo Syndrome
Delayed eruption of teeth, Underfolded helix, Thick lower lip vermilion, Dental malocclusion, Obe... OMIM:157980
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Cleft palate, Abnormal mandible morphology OMIM:217150
Kinsship Syndrome
Osteopenia, Mandibular prognathia, Micrognathia, Synophrys, Downturned corners of mouth, Short ph... OMIM:619297
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner... ORPHA:1507
Lysinuric Protein Intolerance
Osteopenia, Delayed skeletal maturation, Osteoporosis, Hepatosplenomegaly, Anemia, Leukopenia, De... ORPHA:470
Bartsocas-Papas Syndrome 1
Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Flexion contracture, Hypoplast... OMIM:263650
Icf Syndrome
Short stature, Abnormality of neutrophils, Micrognathia, Protruding tongue, Decreased circulating... ORPHA:2268
Cystinosis
Rickets ORPHA:213
Charcot-Marie-Tooth Disease Type 4B2
Tremor, Inability to walk, Optic atrophy, Vocal cord paralysis, Distal sensory impairment, Poor f... ORPHA:99956
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... ORPHA:85166
8Q21.11 Microdeletion Syndrome
Wide nose, Underdeveloped nasal alae, Aplasia/Hypoplasia of the corpus callosum, Abnormality of t... ORPHA:284160
Aicardi Syndrome
Delayed CNS myelination, Anteverted nares, Spina bifida, Microcephaly, Pachygyria, Partial agenes... OMIM:304050
Cog1-Cdg
Osteopenia, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Rhizomelia, Coxa valga, ... ORPHA:263508
Acrofrontofacionasal Dysostosis
Bifid scrotum, Short stature, Camptodactyly of finger, Hypospadias, Micromelia, Non-midline cleft... ORPHA:1784
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Anosmia OMIM:614880
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Pain insensitivity, Emotional lability, Decreased number of small peripheral myeli... OMIM:256800
Pseudo-Torch Syndrome 2
Cerebral calcification, Microcephaly, Thrombocytopenia, Lateral ventricle dilatation, Polymicrogy... OMIM:617397
Robinow Syndrome, Autosomal Dominant 3
Micrognathia, Downturned corners of mouth, Clitoral hypoplasia, Micropenis, Short phalanx of fing... OMIM:616894
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Persistence of primary teeth, Overweight, Persistence of hemoglobin F, Increased... OMIM:619769
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Hearing impairment, Joint stiffness, Hypoplastic ilia, Abn... ORPHA:1860
Weaver Syndrome
Delayed CNS myelination, Depressed nasal bridge, Absent septum pellucidum, Slurred speech, Poor f... OMIM:277590
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy, Progressive... ORPHA:2821
X-Linked Intellectual Disability, Snyder Type
Long toe, Arachnodactyly, Recurrent fractures, Osteoporosis, Slender toe, Camptodactyly ORPHA:3063
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Dec... OMIM:619503
Opitz Gbbb Syndrome
Bifid scrotum, Micrognathia, High palate, Enlarged ovaries, Short stature, Hypospadias, Cryptorch... ORPHA:2745
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Delayed CNS myelination, Microcephaly, Hypoplasia of the corpus callosum, Difficulty walking, Hyp... OMIM:618653
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Mandibular prognathia, Posteriorly rotated ears, Rhizomelia, Metaphyseal widening, ... OMIM:612813
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Microcephaly, Colpocepha... OMIM:301043
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow... OMIM:614753
3Mc Syndrome
Abnormal pinna morphology, Craniosynostosis, Highly arched eyebrow, Bilateral cryptorchidism, Sup... ORPHA:293843
Doors Syndrome
Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, Low anterior hairline, D... ORPHA:79500
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Thrombocytop... ORPHA:391487
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Hypoplasia of penis, Short stature, Micromelia, Postaxial hand polydactyly, Split ... ORPHA:2491
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Abnorma... ORPHA:3455
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Abnormality of th... ORPHA:906
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hearing impairment, Abnormal pinna... ORPHA:93333
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Se... OMIM:618820
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Anteverted nares, Prominent nose, Broad nasal tip, Microcephaly, Head-bangin... ORPHA:177907
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ca... ORPHA:3472
Coffin-Siris Syndrome 1
Dry hair, Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Clinodact... OMIM:135900
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Short nose, Anosmia ORPHA:1295
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Highly arched eyebrow, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermil... OMIM:617865
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Elevated hemoglobin A1c, Microcephaly OMIM:619278
Robinow Syndrome, Autosomal Recessive 2
Broad hallux, Sandal gap, Cleft soft palate, Micrognathia, Abnormality of the dentition, Posterio... OMIM:618529
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal paranasal sinus morphology, Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia OMIM:207731
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu... OMIM:602418
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Natal tooth, Abnormal pinna morphology, Cardiomegaly, Absent eyelashes, 4-5 finge... ORPHA:158687
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Osteomalacia, Rickets, Hip dislocation, Genu valgum, Finger swelling, Pa... OMIM:309000
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint laxity, Microretrognathia, Short stature, Monkey wrench femoral neck, Micromelia, 2-3 toe s... OMIM:618870
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hyposmia, Anosmia OMIM:614897
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Primary Hyperoxaluria
Generalized osteosclerosis, Bone pain, Recurrent fractures ORPHA:416
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Micrognathia, Conical tooth, Protruding ear, Coarse hair, Widely spaced teeth, Conductive hearing... ORPHA:1071
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... OMIM:187601
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Ankle flexion contracture, Micrognathia, Long eyelashes, Bilateral conductive hearin... OMIM:617802
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture OMIM:616866
Thanatophoric Dysplasia Type 2
Brachydactyly, Short stature, Micromelia, Limitation of joint mobility, Joint hyperflexibility, A... ORPHA:93274
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi... OMIM:601356
Lethal Congenital Contracture Syndrome 10
Stiff neck, Micrognathia, Cardiomegaly, Narrow palate, Femoral bowing, Macroglossia, Short long b... OMIM:617022
Glycerol Kinase Deficiency
Pathologic fracture, Osteoporosis OMIM:307030
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Painless fractures due to injury OMIM:201300
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... ORPHA:247353
Phocomelia, Schinzel Type
Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Pr... ORPHA:2879
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Short stature, Sensorineural hearing impairment, Nail dystrophy, Hypod... OMIM:616029
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Natal tooth, Overlapping toe, Posteriorly rotated ears, Craniosynostosis, Hypospad... OMIM:123790
Blue Rubber Bleb Nevus
Iron deficiency anemia, Pathologic fracture, Thrombocytopenia OMIM:112200
Cushing Disease
Sparse scalp hair, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Intra-oral hyperpig... ORPHA:96253
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Radial bowing, Postaxial polydactyly, Micrognathia, Micromelia, Missing... OMIM:617866
Lamb-Shaffer Syndrome
Mild postnatal growth retardation, Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thick v... ORPHA:530983
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Premature graying of hair, Nail dystrophy, Bo... OMIM:619767
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Mesomelic Dysplasia, Kantaputra Type
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal f... ORPHA:1836
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... ORPHA:93322
Khan-Khan-Katsanis Syndrome
Ventriculomegaly, Microcephaly, Dysphagia, Colpocephaly, Hypertonia, Neutropenia, Short nose, Lym... OMIM:618460
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Short t... ORPHA:968
Pallister-Hall Syndrome
Small scrotum, Large for gestational age, Gonadotropin deficiency, Micropenis, Paroxysmal bursts ... ORPHA:672
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Portal hyperte... OMIM:615688
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placemen... ORPHA:435638
Cockayne Syndrome
Dry hair, Congenital contracture, Hepatomegaly, Abnormal dental morphology, Cryptorchidism, Agene... ORPHA:191
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, High palate, Otitis media, Conductive hearing impairment, Joint la... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, High palate, Otitis media, Conductive hearing impairment, Joint la... ORPHA:353277
Developmental And Epileptic Encephalopathy 41
Delayed eruption of teeth, Flexion contracture OMIM:617105
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta OMIM:615905
Tsh-Secreting Pituitary Adenoma
Osteopenia, Hyperhidrosis, Male hypogonadism, Hyperthyroidism, Hypogonadotropic hypogonadism, Ver... ORPHA:91347
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Microcephaly, Dysplastic corpus callosum, Wide nasal bridge, Head-banging, Hypoplasia of the corp... OMIM:618569
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Wide nose, Broad-based gait, Distal senso... ORPHA:477817
Eosinophilic Fasciitis
Arthritis, Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Irregular iliac crest, Severe short stature, Abnormality of the epiphysis ... ORPHA:93316
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Otitis media, Conductive hearing impairment, Joint laxity, Broad hallux, Short s... ORPHA:353281
Meckel Syndrome, Type 9
Ambiguous genitalia, Limb undergrowth, Talipes equinovarus OMIM:614209
Campomelia, Cumming Type
Hepatomegaly, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Pancreatic cys... ORPHA:1318
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Optic disc pallor, Ataxia, Narrow nasal ridge, Microcephaly, Inability to walk, Colpocephaly OMIM:620083
Barber-Say Syndrome
Delayed eruption of teeth, Abnormal pinna morphology, Wide mouth, Sparse or absent eyelashes, Bre... ORPHA:1231
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Delayed skeletal maturation... ORPHA:77293
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Ulnar deviated club hands, Temporomandibular joint ankylosis, Lateral ... OMIM:164900
Geleophysic Dysplasia 1
Short palm, Osteopenia, Hepatomegaly, Short stature, Camptodactyly of finger, Coxa valga, Joint s... OMIM:231050
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair, Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly ORPHA:2266
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Micrognathia, High, narrow palate, Delayed early-childhood social milestone developme... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Micrognathia, High, narrow palate, Delayed early-childhood social milestone developme... ORPHA:99228
Monosomy X
Osteopenia, Micrognathia, High, narrow palate, Delayed early-childhood social milestone developme... ORPHA:99226
Turner Syndrome
Osteopenia, Micrognathia, High, narrow palate, Delayed early-childhood social milestone developme... ORPHA:881
Intellectual Developmental Disorder, Autosomal Dominant 54
Anhidrosis, Small for gestational age, Dental crowding, Delayed eruption of primary teeth, Short ... OMIM:617799
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Cardioacrofacial Dysplasia 2
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Postax... OMIM:619143
Restrictive Dermopathy 1
Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, Hypospadias, Absent ... OMIM:275210
Brittle Cornea Syndrome 2
Recurrent fractures, Joint hypermobility OMIM:614170
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Mesomelic short st... OMIM:249700
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Thin upper lip vermilion, Clitoral hypertrophy, Highly arched eyebrow, Asymmet... OMIM:619124
Bohring-Opitz Syndrome
Depressed nasal bridge, Anteverted nares, Delayed peripheral myelination, Microcephaly, Wide nasa... OMIM:605039
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Osteopenia, Pathologic fracture OMIM:614231
Exudative Vitreoretinopathy 1
Recurrent fractures OMIM:133780
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Sparse ... OMIM:139210
Pachyonychia Congenita
Natal tooth, Alopecia, Angular cheilitis, Ear pain, Nail dystrophy, Palmoplantar hyperhidrosis, A... ORPHA:2309
Mowat-Wilson Syndrome
Mandibular prognathia, Bifid scrotum, Dental crowding, Uplifted earlobe, Asplenia, Cleft hard pal... ORPHA:2152
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... OMIM:242700
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Dispr... ORPHA:2634
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Abnormal pinna morphology, Craniosynostosis, Micromelia, Posta... OMIM:200995
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia OMIM:618841
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Short stature, Increased s... OMIM:252600
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormality of the sense of smell OMIM:228300
Gm1 Gangliosidosis Type 1
Macrotia, Gingival overgrowth, Hepatosplenomegaly, Hypoplastic vertebral bodies, Macroglossia, Fl... ORPHA:79255
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Scarring al... OMIM:618727
Alg9-Cdg
Micrognathia, Large fleshy ears, Narrow greater sciatic notch, Abnormal bone ossification, Bifid ... ORPHA:79328
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Coarse hair, Micropenis, Pancreatic ... ORPHA:83617
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Protruding ear, High palate, Clinodactyly of the 5th f... OMIM:268305
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Hip d... ORPHA:85170
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Frontal balding, Oligozoospermia, Decreased c... OMIM:602668
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, ... ORPHA:2238
Moebius Syndrome
Facial palsy, Dysphagia, Abnormality of the sense of smell ORPHA:570
Waardenburg Syndrome, Type 2E
Cerebral hypomyelination, Hypertonia, Anosmia OMIM:611584
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Bulbous nose, Pachygyria, Polymicrogyria ORPHA:2328
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Micrognathia, Flexion contracture, High palate, Short philtrum, Macrovesicular hepati... OMIM:619127
Mend Syndrome
Overlapping toe, Broad hallux, Abnormal auditory evoked potentials, Micrognathia, Asymmetry of th... ORPHA:401973
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Nievergelt Syndrome
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Mesomelic short stature, Talipes equinovar... OMIM:163400
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Postaxial polydactyly, Diastem... OMIM:619142
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Natal tooth, Sandal gap, Alopecia totalis, Widely spaced toes, Neonatal death, Mitten... OMIM:609638
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Hypoplasia of the radius, Patel... OMIM:617604
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Clef... ORPHA:2756
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Hypocalciuric Hypercalcemia, Familial, Type Iii
Bone pain, Osteomalacia OMIM:600740
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Sensorineural hearing imp... ORPHA:760
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem... OMIM:304120
Floating-Harbor Syndrome
Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligodontia, Short philtrum, Conductive hearin... ORPHA:2044
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... ORPHA:3003
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... ORPHA:2502
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing... OMIM:250220
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn... OMIM:271665
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Bifid scrotum, Dental crowding, Uplifted earlobe, Asplenia, Cleft hard pal... ORPHA:261537
8P11.2 Deletion Syndrome
Hemolytic anemia, Depressed nasal bridge, Microcephaly, Splenomegaly, Spherocytosis, Anosmia ORPHA:251066
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition... OMIM:216300
Pediatric Systemic Lupus Erythematosus
Alopecia, Oral ulcer, Lymphadenopathy, Leukopenia, Arthritis, Ascites, Microangiopathic hemolytic... ORPHA:93552
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia OMIM:614837
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Painless fractures due to injury, Autoamputation of digits, Osteomyelitis leading to amputation d... OMIM:256810
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Long nose, Dysplastic corpus callosum, Ventriculomegaly, Low hanging columella ORPHA:363444
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, High palate, Con... OMIM:614188
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Mandibular prognathia, Hypospadias, Micromelia, Hypoplasia of the radius, Nonopposable triphalang... ORPHA:2252
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Calcaneovalgus deformity, Pineal cyst, Pro... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Calcaneovalgus deformity, Pineal cyst, Pro... ORPHA:363958
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Proportionate short stature, Micrognath... OMIM:613457
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent aphthous stomatitis, Recurrent sinusitis, Neutropenia, Lym... OMIM:614868
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Hepatomegaly, Short stature, Limited elbow movement, Limited wrist movement... OMIM:617809
Fibrochondrogenesis
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Hearing abnormality, Wi... ORPHA:2021
Alström Syndrome
Abnormality of dental color, Decreased response to growth hormone stimulation test, Hypoplasia of... ORPHA:64
Syndromic Diarrhea
Brittle hair, Abnormality of the liver, Hypoplasia of the thymus, Hepatic fibrosis, Hepatoblastom... ORPHA:84064
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Epiphyseal dysplasia, Short nail, Micromelia, Deep philtrum, Retrognat... ORPHA:1675
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Low-set, posteriorly r... ORPHA:1908
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Mandibular prognathia, Low-set, posteriorly rotated ears, Posteriorly rotated ears,... ORPHA:171866
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Abnormality of the pineal gland, Abnormal dental morphology, Underdeve... ORPHA:369950
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... OMIM:300106
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Micrognathia, High, narrow palate, High palate, Male infertilit... OMIM:163950
Isotretinoin-Like Syndrome
Micrognathia, Postnatal growth retardation, Aplasia/Hypoplasia of the inner ear, Cleft palate, An... ORPHA:2306
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplasia of the radius, Short ... OMIM:617895
Peters-Plus Syndrome
Hypoplasia of the vagina, Short lingual frenulum, Bilobate gallbladder, Proximal placement of thu... OMIM:261540
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Neuronal Intestinal Pseudoobstruction
Natal tooth, Decreased circulating antibody level ORPHA:99811
Fusariosis
Brain abscess, Lung abscess, Osteomyelitis, Sinusitis, Abnormality of the spleen, Peritonitis, Ar... ORPHA:228119
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... OMIM:600802
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Large for gestati... ORPHA:77301
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, S... OMIM:613091
Legionnaires Disease
Hyponatremia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Ly... ORPHA:549
Mosaic Trisomy 1
Depressed nasal bridge, Wide nasal bridge, Lateral ventricle dilatation, Polymicrogyria, Agenesis... ORPHA:1692
Immunodeficiency 55
Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro... OMIM:617827
Linear Skin Defects With Multiple Congenital Anomalies 1
Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum OMIM:309801
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia, Sensorineural hearing impa... ORPHA:79107
Congenital Varicella Syndrome
Intrauterine growth retardation, Micromelia ORPHA:291
6Q Terminal Deletion Syndrome
Dysmetria, Gait ataxia, Abnormal cerebral white matter morphology, Colpocephaly, Hypoplasia of th... ORPHA:75857
Chromosome 1P36 Deletion Syndrome, Distal
Depressed nasal ridge, Pachygyria, Agenesis of corpus callosum, Self-mutilation, Oppositional def... OMIM:607872
Fanconi-Bickel Syndrome
Rickets, Osteomalacia OMIM:227810
Acromesomelic Dysplasia 1
Joint laxity, Short metacarpal, Radial bowing, Short nail, Broad metatarsal, Short toe, Hypoplasi... OMIM:602875
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Lenz-Majewski Hyperostotic Dwarfism
Choanal atresia, Microcephaly, Dysplastic corpus callosum, Choanal stenosis, Spina bifida occulta... OMIM:151050
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Sparse hair, Wr... OMIM:268300
Common Variable Immunodeficiency
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Decrea... ORPHA:1572
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth, Hypoplastic nipples, Breast hypoplasia, Hypohidrosis OMIM:129550
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Bifid scrotum, Dental crowding, Uplifted earlobe, Asplenia, Cleft hard pal... ORPHA:261552
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Becker Nevus Syndrome
Supernumerary nipple, Micromelia, Hypoplastic labia minora, Abnormal tibia morphology, Abnormalit... ORPHA:64755
Osteogenesis Imperfecta, Type Xx
Multiple prenatal fractures OMIM:618644
Pallister-Killian Syndrome
Congenital hip dislocation, Tented upper lip vermilion, Small scrotum, Micrognathia, Flexion cont... OMIM:601803
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever... ORPHA:85167
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Tented upper lip vermilion, Tapered finger, Long fingers, Calcaneovalgus d... ORPHA:521445
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Frontal balding, Precocious puberty, Oligozoospermia, Hypokalemia, Increased... ORPHA:786
Sotos Syndrome
No permanent dentition, Flexion contracture, Conductive hearing impairment, Chronic otitis media,... ORPHA:821
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Hearing impairment, M... OMIM:600383
Multiple Endocrine Neoplasia Type 1
Increased susceptibility to fractures, Osteolysis, Reduced bone mineral density ORPHA:652
Neu-Laxova Syndrome 1
Micromelia, Micrognathia, Swollen lip, Calcaneovalgus deformity, Neonatal death, Finger syndactyl... OMIM:256520
Opsismodysplasia
Short metacarpal, Posteriorly rotated ears, Rhizomelia, Hypoplasia of the odontoid process, Squar... OMIM:258480
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment, Abnormal metaphysis morphology, Limb undergrowth, Short stature ORPHA:1861
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ventriculomegaly, Periventricular leukomalacia, Depressed nasal bridge, Optic nerve hypoplasia, D... ORPHA:500150
Ulbright-Hodes Syndrome
Micrognathia, High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Abnormal exte... ORPHA:3404
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Sensorineu... ORPHA:3214
Mucopolysaccharidosis, Type Vii
Splenomegaly, Hydrocephalus, Recurrent upper respiratory tract infections, Neurodegeneration OMIM:253220
Neurofibromatosis Type 1
Recurrent fractures, Joint stiffness, Chronic myelogenous leukemia, Genu valgum, Slender long bon... ORPHA:636
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Emotional lability, Incoordination OMIM:223900
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume... ORPHA:3353
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Splenomegaly, Decreased circu... OMIM:619381
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Scarring alopecia of scalp, Hypoplastic sweat glands, Cleft palate, Hypohidrosis, Sh... OMIM:617337
Restrictive Dermopathy
Osteopenia, Natal tooth, Aplasia/Hypoplasia of the clavicles, Multiple joint contractures, Hyposp... ORPHA:1662
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Hyperactivity, Glioma, Choanal atresia, Microcephaly, Long nose, T l... OMIM:251260
Congenital Disorder Of Glycosylation, Type Iim
Delayed CNS myelination, Microcephaly, Wide nasal bridge, Cerebral atrophy, Lateral ventricle dil... OMIM:300896
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Narrow nasal bridge, Speech apraxia, Ataxia, Impulsivity, Prominent nose, Tremor, Dysplastic corp... OMIM:300967
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Delayed eruption of permanent teeth ORPHA:839
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Highly arched eyebrow, Female pseudohermaphroditism, Shawl scrotum, Cryptorchi... ORPHA:1519
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Whim Syndrome
Sinusitis, Severe periodontitis, Lymphadenitis, Abnormal neutrophil morphology, Decreased circula... ORPHA:51636
Craniopharyngioma
Increased susceptibility to fractures ORPHA:54595
Genitopatellar Syndrome
Congenital hip dislocation, Small scrotum, Hypoplastic ischia, Micrognathia, Knee flexion contrac... OMIM:606170
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... OMIM:619573
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Short stature, Micromelia, Ulnar bowing, Aplasia/Hypoplasia of the radius, Mesomel... ORPHA:1765
Keppen-Lubinsky Syndrome
Narrow nasal bridge, Spastic tetraparesis, Underdeveloped nasal alae, Microcephaly, Opisthotonus,... OMIM:614098
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Total anosmia ORPHA:2326
Ebola Hemorrhagic Fever
Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr... ORPHA:319218
C Syndrome
Micromelia, Micrognathia, High palate, Clinodactyly of the 5th finger, Dislocated radial head, Lo... ORPHA:1308
Carney Complex
Hepatocellular carcinoma, Increased body weight, Leydig cell neoplasia, Ovarian serous cystadenom... ORPHA:1359
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Microlissencephaly-Micromelia Syndrome
Hypoparathyroidism, 11 pairs of ribs, Micromelia, Adducted thumb, Generalized hypertrichosis, Fai... ORPHA:50810
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Median cleft lip, Short stature, Postaxial polydactyly, Accessory oral frenulum, Sp... OMIM:617088
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Micrognathia, Cleft upper lip, Preaxial hand polydac... ORPHA:93271
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Micrognathia, Knee flexion contracture, Rectovaginal fistula, Bilateral talipes equinovarus, Over... OMIM:619708
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Optic disc pallor, Microcephaly, Lateral ventricle dilatation, Hypoplas... OMIM:619869
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Micrognathia,... OMIM:214800
Acute Radiation Syndrome
Vertigo, Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Prominent nasal bridge, Delayed peripheral myelination, Underdeveloped nasal alae, Microcephaly, ... ORPHA:364577
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... ORPHA:99826
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ectopic posterior pituitary, Congenital hip dislocation, Micromelia, Cleft maxill... ORPHA:508488
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Posteriorly rotated ears, H... OMIM:619479
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Pancreatic fibrosis, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femo... OMIM:615503
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Ramon Syndrome
Delayed eruption of teeth, Short stature, Enlarged labia minora, Hearing impairment, Gingival fib... OMIM:266270
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Severe short stature, Elevated circulating creatine kinase concentration, Micro... OMIM:600092
Zttk Syndrome
Depressed nasal bridge, Dysplastic corpus callosum, Optic atrophy, Wide nasal bridge, Spasticity,... OMIM:617140
White-Kernohan Syndrome
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Dysplastic corpus callosum, ... OMIM:619426
Keppen-Lubinsky Syndrome
Flexion contracture, Increased susceptibility to fractures ORPHA:435628
Infantile Nephropathic Cystinosis
Rickets ORPHA:411629
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Pathologic fracture, Wide anterior fontanel, Hip dislocation ORPHA:90349
Mesomelic Dysplasia, Savarirayan Type
Short stature, Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head OMIM:605274
Cystinosis, Nephropathic
Splenomegaly, Metaphyseal widening, Delayed skeletal maturation, Rickets, Genu valgum, Hypophosph... OMIM:219800
Odontomicronychial Dysplasia
Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Prematu... ORPHA:1811
Witteveen-Kolk Syndrome
Delayed CNS myelination, Wide nose, Anteverted nares, Prominent nasal bridge, Depressed nasal bri... OMIM:613406
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Small for gestational age, Multiple joint contract... ORPHA:464306
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Polyc... ORPHA:171
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... OMIM:149730
Schisis Association
Micromelia, Small for gestational age, Cleft palate, Unilateral cleft lip ORPHA:63862
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Pancreatic fibrosis, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial ... OMIM:263520
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Natal tooth, Angular cheilitis, Sparse eyebrow, Nail dystrophy, Palm... OMIM:167210
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Bowing of the long bones, Odontogenic keratocysts of the j... ORPHA:199276
Primrose Syndrome
Restlessness, Cerebral calcification, Anteverted nares, Depressed nasal bridge, Ataxia, Broad nas... OMIM:259050
Peters Plus Syndrome
Micromelia, Micrognathia, Clitoral hypoplasia, Widely spaced teeth, Conductive hearing impairment... ORPHA:709
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Severe short stature, Bowed humerus, Short tubular bones of the hand, Tibi... OMIM:184253
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Narrow nasal bridge, Speech apraxia, Ataxia, Prominent nasal bridge, Prominent nose, Aggressive b... ORPHA:466791
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Broad hallux, Posteriorly rotated ears, Hamartoma of tongue, Micr... OMIM:615948
Primary Sjögren Syndrome
Normocytic anemia, Vaginal dryness, Chronic active hepatitis, Parotitis, Xerostomia, Biliary cirr... ORPHA:289390
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Leopard Syndrome 1
Hyposmia, Spina bifida occulta, Depressed nasal ridge OMIM:151100
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Hypohidrosis, Marked delay in eruption of permanent teeth, Ye... OMIM:104570
Secondary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration, Chy... ORPHA:90363
Aspartylglucosaminuria
Joint laxity, Delayed skeletal maturation, Vacuolated lymphocytes, Neutropenia, Pathologic fracture OMIM:208400
Radio-Renal Syndrome
Severe short stature, Micromelia, Micrognathia, High, narrow palate, Hypoplasia of the radius, Do... ORPHA:3015
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia OMIM:619718
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Underdeveloped antitragus, Abnormality of the dentition, Hypohidrosis,... ORPHA:2036
Reynolds Syndrome
Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Lip telangiectasia, Biliary cirrhosis, Cholesta... OMIM:613471
Niemann-Pick Disease Type C
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Hepatosplenomegaly, ... ORPHA:646
Bosma Arhinia Microphthalmia Syndrome
Anosmia, Choanal atresia, Aplasia of the nose OMIM:603457
17Q11 Microdeletion Syndrome
Osteopenia, Bowing of the legs, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Large hands, Leuk... ORPHA:97685
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Cardiomegaly, A... OMIM:306955
Mowat-Wilson Syndrome
Delayed eruption of teeth, Bifid scrotum, Short stature, Hypospadias, Supernumerary nipple, Uplif... OMIM:235730
Generalized Arterial Calcification Of Infancy
Calcification of the auricular cartilage, Osteomalacia, Stippled calcification of the shoulder, A... ORPHA:51608
Scalp-Ear-Nipple Syndrome
Depressed nasal bridge, Short columella, Anteverted nares, Lateral ventricle dilatation OMIM:181270
Odontomicronychial Dysplasia
Premature eruption of permanent teeth, Short nail OMIM:601319
Waardenburg Syndrome, Type 4C
Anosmia OMIM:613266
Lacrimoauriculodentodigital Syndrome
Anosmia, Choanal atresia, Dysphagia ORPHA:2363
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Accessory oral frenulum, Hamartoma of tongue, Postaxial polydactyly, Aplastic clavicle, Micromeli... OMIM:616546
Biliary, Renal, Neurologic, And Skeletal Syndrome
Depressed nasal bridge, Anteverted nares, Aqueductal stenosis, Splenomegaly, Hydrocephalus, CNS h... OMIM:619534
Kabuki Syndrome 1
Hemolytic anemia, Autoimmune thrombocytopenia, Microcephaly, Hydrocephalus, Wide nasal bridge, De... OMIM:147920
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... OMIM:204690
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior, Cholecystitis, Bilateral sensorineural hearing impairment ORPHA:309256
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior, Cholecystitis, Bilateral sensorineural hearing impairment ORPHA:309263
Metachromatic Leukodystrophy, Adult Form
Bilateral sensorineural hearing impairment, Abnormal social behavior, Cholecystitis, Neoplasm of ... ORPHA:309271
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Short ear, Narrow mouth, Thick lower lip vermilion, Mesiodens, Long philtrum, Abnormal social beh... ORPHA:314647
Tuberous Sclerosis Complex
Pituitary adenoma, Parathyroid hyperplasia, Pheochromocytoma, Parathyroid adenoma, Abnormal socia... ORPHA:805

Histopathology

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

There is no histopathology data for Csf1r

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Csf1r.

No publications found that use IMPC mice or data for Csf1r.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Csf1rtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Csf1rem3(IMPC)H Exon Deletion Mice

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