Gene Summary

SUN domain containing ossification factor
osteopotentia,  Opt,  AI848100

IMPC Phenotype Summary

Not Significant
Not tested


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 Sucoem1(IMPC)Bay HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

VIP of left eye

15 Images

Eye Morphology

VIP of right fundus

15 Images

Eye Morphology

VIP of left fundus

15 Images

Eye Morphology

VIP of right eye

15 Images

MicroCT E18.5

Embryo reconstruction

6 Images

MicroCT E14.5-E15.5

Embryo reconstruction

2 Images

Human diseases caused by Suco 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o... ORPHA:564003
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Osteogenesis Imperfecta, Type Viii
Osteopenia, Disproportionate short-limb short stature, Radial bowing, Slender long bone, Femoral ... OMIM:610915
Mazabraud Syndrome
Recurrent fractures, Fibrous dysplasia of the bones, Bone pain ORPHA:57782
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo... ORPHA:79106
Melorheostosis With Osteopoikilosis
Hypertension, Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the dis... ORPHA:1879
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge... OMIM:130060
Succinic Acidemia
Respiratory distress OMIM:600335
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Inability to walk, Osteopenia, Broad-based gait, Recurrent fractures OMIM:619884
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, R... ORPHA:53697
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m... ORPHA:970
Osteogenesis Imperfecta, Type Xxii
Slender long bone, Abnormal blood phosphate concentration, Decreased circulating osteocalcin leve... OMIM:619795
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno... ORPHA:166277
Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti... ORPHA:3152
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy OMIM:254120
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u... ORPHA:3416
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn... ORPHA:1802
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Joint dislocation, Abno... ORPHA:2097
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Crumpled long bones, Abnormal lower limb bone morphology, Increased susceptibility to... ORPHA:2788
Monosomy 5P
Small hand, Finger syndactyly, Intrauterine growth retardation, Joint hypermobility, Abnormality ... ORPHA:281
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Renal phosphate wasting, Difficulty walking, Fibular bowing, Hyp... OMIM:241530
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Osteopenia, Shallow acetabular fossae, Recurrent fractures, Genu valgum, Broa... OMIM:620639
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Metaphyseal irregularity, Rickets, Bulging epiphyses, Difficulty... OMIM:600081
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Increased spinal bone density, Gait disturbance, Spastic gait, Recurrent fractures, Bone pain ORPHA:329475
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Bulging... OMIM:600785
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Splenomegaly, Abnormal limb bone morphology, Short stature, In... ORPHA:2204
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Difficulty walking, Postnatal ... ORPHA:289157
Pyle Disease
Genu valgum, Limited elbow extension, Cubitus valgus, Thin bony cortex, Metaphyseal dysplasia, Me... OMIM:265900
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Difficulty walking, Fibular bowing, Hypophosphatemia, Secondary ... OMIM:264700
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Finger joint contracture, Chorea, Paresthesia, Intrauterine growth retardation, Dys... ORPHA:48431
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Metatropic Dysplasia
Severe short stature, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Cam... ORPHA:2635
Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti... ORPHA:1525
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Difficulty walking, Fibular bowing, Hypophosphatemia, Secondary ... OMIM:277440
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Delayed skeletal maturation, Absence of secondary sex charac... ORPHA:2410
Hypophosphatasia, Infantile
Unossified vertebral bodies, Nephrocalcinosis, Metaphyseal cupping, Disproportionate short-limb s... OMIM:241500
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Pathologic fracture, Osteopenia, Gait disturbance, Bone cyst OMIM:618193
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Coarse metaphyseal trabecularization, Joint dislocation, Osteomalacia, Abnor... ORPHA:93160
Familial Expansile Osteolysis
Hydroxyprolinuria, Pathologic fracture, Bowing of the long bones, Thin bony cortex, Osteolysis, B... OMIM:174810
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cardiomyopathy, Urinary bladder sphincter dysfunction, Pathologic fracture, Congestive heart fail... ORPHA:52430
Osteogenesis Imperfecta, Type V
Osteopenia, Abnormal pelvic girdle bone morphology, Anterior radial head dislocation, Joint hyper... OMIM:610967
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Abnormal cortical ... ORPHA:1486
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Osteomalacia, F... OMIM:300554
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Ck Syndrome
Abnormal digit morphology, Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Mandibular osteomyelitis, Joint dislocation, Abnormal epiphysis m... ORPHA:53
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Disproportionate short-limb short stature, Bowing of limbs due to multiple fractures, Decreased c... OMIM:259410
Intermediate Osteopetrosis
Erlenmeyer flask deformity of the femurs, Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, ... ORPHA:210110
Odontochondrodysplasia 1
Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ... OMIM:184260
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Joint hypermobility, Wormian bones, Brachydactyly, Osteoporosis ORPHA:2787
Dent Disease 1
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Osteomalacia, F... OMIM:300009
Gorham-Stout Disease
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal pelvis bone morph... ORPHA:73
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Delayed skeletal maturation, Postnatal growth retardation, Joint hypermobility, 2-3 t... ORPHA:2324
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperlipidemia, Proteinuria, Delayed puber... ORPHA:369
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Bruck Syndrome 1
Ankle flexion contracture, Elbow flexion contracture, Pterygium, Increased susceptibility to frac... OMIM:259450
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Disproportionate short-limb short stature, Slender long bone, ... OMIM:259420
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Decreased circulating parathyroid hormone level, Increased circulating beta-C-terminal telopeptid... ORPHA:157215
Melnick-Needles Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Delayed cranial suture closure, Cone-s... ORPHA:2484
Bruck Syndrome 2
Osteopenia, Hydroxyprolinuria, Elbow flexion contracture, Pterygium, Femoral bowing, Increased su... OMIM:609220
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ... OMIM:166260
Weismann-Netter Syndrome
Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip b... ORPHA:3344
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... ORPHA:3409
Post-Traumatic Pituitary Deficiency
Osteopenia, Hypotension, Hypoglycemia, Delayed skeletal maturation, Decreased response to growth ... ORPHA:95619
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Atrioventricular block, Type I diabetes mellitus, Carpal osteolysis, Pterygium, Osteo... ORPHA:371428
Lethal Recessive Chondrodysplasia
Respiratory distress, Flared elbow metaphyses, Generalized osteosclerosis, Accelerated skeletal m... ORPHA:1423
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Vesicoureteral reflux, Abnormal cortical bone morphology, Short statur... ORPHA:2512
Juvenile Paget Disease
Coarse metaphyseal trabecularization, Cranial hyperostosis, Hyperuricemia, Bowing of the long bon... ORPHA:2801
Osteogenesis Imperfecta, Type Xii
Hypermobility of interphalangeal joints, Bowing of the legs, Bowing of the arm, Bowing of the lon... OMIM:613849
Hypophosphatasia, Adult
Chondrocalcinosis, Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractu... OMIM:146300
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Short stature, Recurrent fract... OMIM:615066
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Paresthesia, Aplasia/hypoplasia invo... ORPHA:75508
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth OMIM:619751
Gastrointestinal hemorrhage, Small hand, Limitation of joint mobility, Clubbing of toes, Abnormal... ORPHA:2796
Solitary Bone Cyst
Abnormal ilium morphology, Pathologic fracture, Abnormal tibia morphology, Lytic defects of the r... ORPHA:83468
Osteogenesis Imperfecta, Type Xix
Severe short stature, Osteopenia, Rhizomelia, Bowing of the arm, Joint hypermobility, Multiple pr... OMIM:301014
Osteogenesis Imperfecta, Type Ix
Disproportionate short-limb short stature, Bowing of limbs due to multiple fractures, Decreased c... OMIM:259440
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Gout, Type II diabetes mellitus, Hy... OMIM:610947
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Osteomalacia, Difficulty walking, Abnormal tibia morphology... ORPHA:249
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea ORPHA:141152
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,... OMIM:259600
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Classic Galactosemia
Hypoglycemia, Postural tremor, Gait imbalance, Action tremor, Abnormal erythrocyte enzyme concent... ORPHA:79239
Gaucher Disease Type 1
Gingival bleeding, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Increased circulating antibod... ORPHA:77259
Abnormal femoral metaphysis morphology, Pathologic fracture, Abnormal tibial metaphysis morpholog... ORPHA:668
Propionic Acidemia
Hyperglycinuria, Increased level of hippuric acid in urine, Cardiomyopathy, Hypoglycemia, Pancyto... OMIM:606054
Autosomal Recessive Cutis Laxa Type 2A
Congenital hip dislocation, Abnormal bleeding, Persistent open anterior fontanelle, Delayed crani... ORPHA:357058
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu... ORPHA:85184
Caffey Disease
Hyperesthesia, Cortical irregularity, Periosteal thickening of long tubular bones, Increased circ... ORPHA:1310
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Inability to walk, Intrauterine growth retardation, Death in childho... OMIM:620368
Dent Disease
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Renal hypophosp... ORPHA:1652
Variant Abeta2M Amyloidosis
Chronic kidney disease, Arthralgia of the hip, Pathologic fracture, Reduced left ventricular ejec... ORPHA:314652
Painless fractures due to injury, Pathologic fracture, Osteomyelitis, Abnormal appendicular skele... ORPHA:2583
Short Stature Due To Partial Ghr Deficiency
Delayed skeletal maturation, Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed ... ORPHA:314802
Short Stature, Dauber-Argente Type
Osteopenia, Fasting hyperinsulinemia, Decreased fibular diameter, Postnatal growth retardation, I... OMIM:619489
Osteogenesis Imperfecta, Type Ii
Abnormal pelvic girdle bone morphology, Disproportionate short-limb short stature, Congestive hea... OMIM:166210
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Neonatal hyperbilirubinemia, Clinodactyly, Hypoglycemia, Delayed skeletal mat... ORPHA:73272
Bruck Syndrome
Pterygium, Joint stiffness, Bowing of the long bones, Wormian bones, Short stature, Osteoporosis,... ORPHA:2771
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Dyspnea OMIM:267450
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Intestinal bleeding, Bone marrow hypocellularity, Short femoral neck, Pathologic frac... OMIM:612199
Tenorio Syndrome
Osteopenia, Hypoglycemia, Delayed cranial suture closure, Apnea, Joint hypermobility, Gait distur... OMIM:616260
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Broad thumb, Delayed skeletal maturation, Short 5th metacarpal, Femoral bowing, Wormi... OMIM:619638
Respiratory distress OMIM:150280
Kniest Dysplasia
Delayed epiphyseal ossification, Rhizomelia, Limitation of joint mobility, Tracheomalacia, Dumbbe... OMIM:156550
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Abnormal cortical bone morphology, Renal tubular dysfunction, Delayed closure... OMIM:614886
Proteus Syndrome
Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Thin bony cortex, Calvarial hyperostosis OMIM:176920
Marshall-Smith Syndrome
Bruising susceptibility, Slender long bone, Increased susceptibility to fractures, Joint hypermob... ORPHA:561
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones, Recurrent fractures ORPHA:2773
Coronal craniosynostosis, Rhizomelia, Small hand, Disproportionate short-limb short stature, Pers... ORPHA:763
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Bone marrow hypocellularity, Mandibular osteomyelitis, Abnormal pelvic girdle... OMIM:166600
Large fontanelles, Abnormal metaphysis morphology, Bowing of the long bones, Short stature, Anemi... ORPHA:436
Oncogenic Osteomalacia
Renal phosphate wasting, Pathologic fracture, Abnormality of the tarsal bones, Abnormal femur mor... ORPHA:352540
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Cortical sclerosis, Pathologic fracture, Stage 3 chronic kidney disease, Ele... OMIM:620366
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Infantile Systemic Hyalinosis
Severe short stature, Osteopenia, Aplasia/Hypoplasia of the thymus, Osteomalacia, Camptodactyly o... ORPHA:2176
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Pathologic fracture, Urinary incontinence, Gait disturbance, Bone cyst OMIM:221770
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Prolonged bleeding time, Bruising susceptibility, Joint hypermobility, De... OMIM:616229
Osteogenesis Imperfecta, Type Iv
Femoral bowing present at birth, straightening with time, Otosclerosis, Increased susceptibility ... OMIM:166220
Stüve-Wiedemann Syndrome
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Flexion contracture of finge... ORPHA:3206
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Elevated circulating parathyroid hormone ... OMIM:122860
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali... ORPHA:417
Maffucci Syndrome
Pituitary adenoma, Osteolysis, Goiter, Bone pain, Neoplasm of the parathyroid gland, Parathyroid ... ORPHA:163634
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Bruising susceptibility, Recurrent joint dislocation, Arterial rupture, Joint hypermobility, Shor... OMIM:619115
Osteogenesis Imperfecta, Type Xxi
Disproportionate short-limb short stature, Bowing of the arm, Joint hypermobility, Wormian bones,... OMIM:619131
Autosomal Recessive Kenny-Caffey Syndrome
Small hand, Delayed skeletal maturation, Delayed cranial suture closure, Hypocalcemic tetany, Int... ORPHA:93324
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... ORPHA:231222
Metaphyseal Chondrodysplasia, Jansen Type
Severe short stature, Osteopenia, Nephrocalcinosis, Metaphyseal cupping, Clubbing of fingers, Pat... OMIM:156400
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Delayed skeletal maturation, Wide distal fe... OMIM:613320
Osteogenesis Imperfecta, Type Xi
Osteopenia, Increased susceptibility to fractures, Joint hypermobility, Wormian bones, Coxa vara,... OMIM:610968
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Mandibular osteomyelitis, Abnormal bone structure, Avascular... ORPHA:83451
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Renal hypophosphatemia, Osteomalacia, Rickets of the lower limbs, Tooth ... ORPHA:289176
Osteopetrosis, Autosomal Dominant 1
Abnormal pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosclerosi... OMIM:607634
Osteogenesis Imperfecta, Type Xiii
Enuresis nocturna, Increased bone mineral density, Wide distal femoral metaphysis, Femoral bowing... OMIM:614856
Nestor-Guillermo Progeria Syndrome
Mitral regurgitation, Limited elbow movement, Flexion contracture, Right bundle branch block, Ost... OMIM:614008
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular diameter, Intrauter... OMIM:616897
Respiratory distress, Absent or minimally ossified vertebral bodies, Multiple renal cysts, Narrow... ORPHA:66637
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Bruising susceptibility, Femoral bowing, Increased susceptibility to fr... OMIM:166200
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Disproportionate short-limb short stature, Intrauterine growth retardation, Joint hypermobility, ... ORPHA:2772
Short Stature Due To Ghsr Deficiency
Delayed skeletal maturation, Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed ... ORPHA:314811
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Abnormal circulating selenium concentration, Elevated... ORPHA:171706
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Majeed Syndrome
Metaphyseal irregularity, Osteomyelitis, Leukocytosis, Increased susceptibility to fractures, Spl... ORPHA:77297
Achondrogenesis Type 1A
Severe short stature, Abnormal enchondral ossification, Short foot, Recurrent fractures, Short palm ORPHA:93299
Menkes Disease
Metaphyseal spurs, Intrauterine growth retardation, Intracranial hemorrhage, Death in childhood, ... OMIM:309400
Isolated Growth Hormone Deficiency, Type Ia
Severe short stature, Hypoglycemia, Persistent open anterior fontanelle, Decreased serum insulin-... OMIM:262400
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Hypotension, Pathologic fracture, Bone pain, Hepatosplenomegaly, Pan... ORPHA:98850
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Postnatal growth retardation, ... OMIM:616294
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Hydroxyprolinuria, Sclerosis of skull base, Femoral bowing, Increase... OMIM:602080
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture ... ORPHA:93315
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Large posterior fontanelle, Eleva... ORPHA:226313
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Petechiae, Osteopetrosis, Thrombocytopenia, Anemia, Increased bone... OMIM:611490
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Osteopenia, Generalized aminoaciduria, Proximal tubulopathy, Rickets, Gl... OMIM:613388
Chondroectodermal Dysplasia With Night Blindness
Epiphyseal dysplasia, Osteopenia, Metaphyseal irregularity, Fractures of the long bones, Delayed ... ORPHA:319195
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Oligosacchariduria, Delayed patellar ossification, Abnormal femoral neck/head mor... ORPHA:163649
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Osteopenia, Hypoplastic ilia, Flared metaphysis, Carpal synostosis, Dysplas... OMIM:615349
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Congenital hip dislocation, Respiratory distress, Arachnodactyly, Multiple prenatal f... OMIM:271225
Short diaphyses, Osteopenia, Disproportionate short stature, Broad femoral neck, Flared metaphysi... OMIM:224300
Osteogenesis Imperfecta, Type Xviii
Femoral bowing, Joint hypermobility, Bowing of the long bones, Wormian bones, Thin bony cortex, G... OMIM:617952
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Osteopenia, Delayed skeletal maturation, Decreased response to growth hormo... OMIM:614732
Osteopetrosis, Autosomal Recessive 1
Flared metaphysis, Pathologic fracture, Osteomyelitis, Pancytopenia, Splenomegaly, Hypocalcemia, ... OMIM:259700
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Neoplasm of the thyroid gland, Reduced bone mineral density, Recurrent fractures, Congestive hear... ORPHA:137608
Maternal Uniparental Disomy Of Chromosome 1
Type I diabetes mellitus, Panhypogammaglobulinemia, Pancytopenia, Epiphyseal stippling, Delayed c... ORPHA:251009
Stuve-Wiedemann Syndrome 1
Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplastic iliac body, Broad isc... OMIM:601559
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia, Adrenal insufficiency, Pituitary dwarfism, Severe postnatal growth retardation, Hyp... OMIM:262700
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions ORPHA:137935
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Bruising susceptibility, Increased circulating cortisol level, Neuroendocrine ... ORPHA:189427
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Osteopenia, Increased susceptibility to fractures, Hyperphosphaturia, Ne... OMIM:612287
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Cranial hyperostosis, Extramedullary hematopoiesis, Osteomyelitis, Hepa... OMIM:259710
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... OMIM:114000
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hyperparathyroidism, Splenomegaly, Anemia, Recurrent fractures OMIM:618107
Gaucher Disease Type 3
Delayed skeletal maturation, Pancytopenia, Increased susceptibility to fractures, Splenomegaly, I... ORPHA:77261
Myopathy And Diabetes Mellitus
Impaired vibratory sensation, Type I diabetes mellitus, Tip-toe gait, Respiratory distress, Inabi... ORPHA:2596
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Prolonged bleeding following procedure, Tubulointerstitial fibrosis, Chronic neutropenia, Osteope... ORPHA:79259
Geroderma Osteodysplastica
Severe short stature, Abnormal epiphysis morphology, Recurrent fractures, Joint hypermobility, Ab... ORPHA:2078
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Osteopenia, Increased susceptibility to fractures, Hyperphosphaturia, Ne... OMIM:612286
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Dislocation of the femoral head, Genu valgum, Central adrenal in... OMIM:616007
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Increased circula... ORPHA:411593
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hy... ORPHA:293964
Geroderma Osteodysplasticum
Severe short stature, Osteopenia, Femoral bowing, Increased susceptibility to fractures, Tibial b... OMIM:231070
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Joint dislocation, Lymphopenia, Joint stiffness, Leukopenia, Pos... OMIM:620210
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limitation of joint mobility, Synostosis of carpal bones, Disproportionate short-limb short statu... ORPHA:93351
Idiopathic Juvenile Osteoporosis
Osteoporosis, Gait disturbance, Recurrent fractures, Bone pain ORPHA:85193
Cleidocranial Dysplasia
Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Genu... ORPHA:1452
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Abnormal bleeding, Growth delay, Hypoglycemia, Decreased glom... OMIM:232200
Osteogenesis Imperfecta, Type X
Osteopenia, Rhizomelia, Respiratory distress, Genu valgum, Fibular bowing, Death in childhood, Ti... OMIM:613848
Bcard Syndrome
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Bruising suscept... OMIM:612394
Immunodeficiency 95
Respiratory distress OMIM:619773
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Broad-based gait, Broad thumb, Small hand, Slender finger, Broad hallux, Postnatal gr... ORPHA:251028
Oculodentodigital Dysplasia
Toe syndactyly, Finger syndactyly, Clinodactyly, Arrhythmia, Short hallux, Ataxia, Preaxial hand ... ORPHA:2710
Multiple Enchondromatosis, Maffucci Type
Pathologic fracture OMIM:614569
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Br... OMIM:112250
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ilia, Rhizomelia, Neonatal short-limb short stature, Metaphyseal cupping, Radial bowi... OMIM:151210
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Delayed skeletal maturation, Absence of secondary sex charac... ORPHA:2235
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Cole-Carpenter Syndrome 1
Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Wormian bones, Short stature, Red... OMIM:112240
Brittle Cornea Syndrome
Abnormal epiphysis morphology, Bruising susceptibility, Increased susceptibility to fractures, Jo... ORPHA:90354
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Limitation of joint mobility, Mitral r... OMIM:252500
Hyperparathyroidism, Transient Neonatal
Osteopenia, Fractured rib, Unilateral renal agenesis, Hyperparathyroidism, Metaphyseal spurs, Res... OMIM:618188
Calvarial Doughnut Lesions With Bone Fragility
Severe short stature, Osteopenia, Femoral bowing, Osteoporosis, Recurrent fractures OMIM:126550
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Large posterior fontanelle, Elevated ... ORPHA:95717
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Elbow dislocation, Abnormal cortical bone morphology, Increased s... ORPHA:2769
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Finger syndactyly, Delayed cranial suture closure, Large fontanelle... ORPHA:2658
Osteogenesis Imperfecta
Abnormal tibia morphology, Genu valgum, Large fontanelles, Decreased skull ossification, Loss of ... ORPHA:666
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Short stature, Increased bone mi... ORPHA:1782
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Chordee, Broad phalanx, Short foot, ... OMIM:166250
Perching Syndrome
Respiratory distress OMIM:617055
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Respiratory distress, Osteomyelitis, Abscess, Splenomegaly, Joint swelli... OMIM:612852
Prader-Willi Syndrome
Premature adrenarche, Osteopenia, Precocious puberty, Small pituitary gland, Decreased circulatin... ORPHA:739
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Nephrocalcinosis, Hypoglycemia, Intrauterine growth retardation, Patent ductus arteri... OMIM:618005
Progressive Pseudorheumatoid Dysplasia
Joint contracture of the hand, Camptodactyly of finger, Difficulty walking, Joint stiffness, Enla... OMIM:208230
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Apnea, Neonatal death OMIM:615228
Osteogenesis Imperfecta, Type Xvii
Thin metacarpal cortices, Recurrent fractures, Joint hypermobility, Intraventricular hemorrhage, ... OMIM:616507
Osteogenesis Imperfecta, Type Vii
Osteopenia, Rhizomelia, Delayed cranial suture closure, Crumpled long bones, Protrusio acetabuli,... OMIM:610682
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Hydroxyprolinuria, Increased bone mineral density, Hyperuricemia, ... OMIM:239000
Gaucher Disease
Gingival bleeding, Decreased HDL cholesterol concentration, Pancytopenia, Increased circulating a... ORPHA:355
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp... OMIM:215140
Shashi-Pena Syndrome
Unilateral renal agenesis, Hypoglycemia, Intrauterine growth retardation, Cervical C2/C3 vertebra... OMIM:617190
Mccune-Albright Syndrome
Renal phosphate wasting, Increased circulating cortisol level, Increased circulating prolactin co... ORPHA:562
Cardiomyopathy, Dilated, 2H
Tachypnea, Neonatal death OMIM:620203
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Hypoplastic iliac wing, Delayed pubic bone ossification, Large fontanelles,... OMIM:119600
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Bone pain, Leukocytosis, Increas... ORPHA:98849
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Subluxation of the small joints of the hand, Dysplasia of the femoral head... ORPHA:536471
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, Mildly elevated creat... ORPHA:1143
Dysplasia Epiphysealis Hemimelica
Abnormal femoral neck morphology, Abnormal epiphysis morphology, Irregular epiphyses, Joint stiff... ORPHA:1822
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Joint stiffness, Splenomegaly, Gait disturbance, Thin bony cortex, Ataxia... OMIM:230600
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Delayed cranial suture cl... OMIM:175700
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l... OMIM:612301
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Genu valgum, Radioulnar synostosis, Broad distal phalanges of all fingers, D... OMIM:245600
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Hypercalcemia, Proteinuria, Episodic hemolytic anemia, Increased blood urea n... ORPHA:251004
H Syndrome
Delayed skeletal maturation, Osteolysis, Microcytic anemia, Hypogonadism, Hepatosplenomegaly, Fac... ORPHA:168569
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Aplastic anemi... ORPHA:2909
Familial Dysautonomia
Growth delay, Impaired pain sensation, Osteolysis, Renal insufficiency, Hyponatremia, Gait distur... ORPHA:1764
Hereditary Sensory And Autonomic Neuropathy Type 1
Pain insensitivity, Pathologic fracture, Osteomyelitis, Inability to walk, Gait imbalance, Impair... ORPHA:36386
Congenital Glucokinase-Related Hyperinsulinism
Hand tremor, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal... ORPHA:79299
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limbs, Neutrop... ORPHA:221016
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Patellar aplasia, Telangiectasia, Neutropenia, Calcinosis, Leukemia, Short metac... ORPHA:221008
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Difficulty walking, Inability to walk, Decreased response to gro... OMIM:300148
Tenosynovial Giant Cell Tumor
Chondrocalcinosis, Limitation of joint mobility, Abnormality of the ankle, Abnormal shoulder morp... ORPHA:66627
Hjv Or Hamp-Related Hemochromatosis
Abnormality of iron homeostasis, Dilated cardiomyopathy, Abnormality of endocrine pancreas physio... ORPHA:79230
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Osteopenia, Horseshoe kidney, Hypophosphatemic rickets, Hyperphosphaturia, Ab... OMIM:163200
Chronic Pneumonitis Of Infancy
Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions ORPHA:91359
Mccune-Albright Syndrome
Precocious puberty, Craniofacial hyperostosis, Hyperparathyroidism, Pituitary adenoma, Increased ... OMIM:174800
Mandibuloacral Dysplasia With Type B Lipodystrophy
Growth delay, Insulin-resistant diabetes mellitus, Delayed cranial suture closure, Hyperglycemia,... OMIM:608612
Menkes Disease
Gastrointestinal hemorrhage, Chondrocalcinosis, Spontaneous hematomas, Hypoglycemia, Osteomyeliti... ORPHA:565
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Action tremor, Lingual dystonia, Generalized aminoaciduria, Hypotriglyceridemia, Delayed skeletal... ORPHA:404454
Tracheomalacia, Respiratory distress, Horseshoe kidney, Intrauterine growth retardation, Large fo... OMIM:608022
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentratio... OMIM:179800
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea ORPHA:1832
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Postnatal growth retardation, Dysplasia of the femoral head, Arachnodactyly, Radioulnar synostosi... ORPHA:536467
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Delayed cranial suture closure, Hyperglycemia, Hyperinsuline... OMIM:248370
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Fanconi-Bickel Syndrome
Nephropathy, Osteopenia, Nephrocalcinosis, Generalized aminoaciduria, Rickets, Glycosuria, Postpr... ORPHA:2088
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Hyperostosis, ... OMIM:144750
Laron Syndrome
Severe short stature, Short toe, Hypoglycemia, Delayed skeletal maturation, Abnormality of the en... ORPHA:633
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Dystonia, 3-Methylglutaconic aciduria, Progressive cerebellar ataxia ORPHA:67046
Craniometadiaphyseal Dysplasia
Osteopenia, Flared metaphysis, Broad long bones, Sclerosis of skull base, Genu valgum, Wormian bo... OMIM:269300
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Growth delay, Intrauterine growth retardation, Right bundle branch block, Sho... OMIM:619322
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Osteopenia, Unilateral renal agenesis, Delayed cranial suture closure, Post... OMIM:616603
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Respiratory distress, Increased... ORPHA:26792
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Dilated cardiomyopathy, Hypoglycemia, Gait imbalance, Hyperammonemia, ... OMIM:618120
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia OMIM:240800
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Rickets, Glycosuria, Hypoglycemia, Hyperphosphatur... OMIM:616026
Kallmann Syndrome
Delayed skeletal maturation, Anterior hypopituitarism, Hypothalamic gonadotropin-releasing hormon... ORPHA:478
Hao-Fountain Syndrome
Premature adrenarche, Delayed cranial suture closure, Large fontanelles, Hallux valgus, Micropeni... OMIM:616863
Recurrent hypoglycemia, Overlapping fingers, Abnormal circulating IgG level, Abnormal bone ossifi... ORPHA:79324
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress OMIM:245590
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, Small hand, Upper limb undergrowth, Respiratory distress, Splenomegaly... OMIM:608799
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Neonatal hyperbilirubinemia, Abnormal e... ORPHA:95716
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture, Inability to walk OMIM:617977
Premature Aging Syndrome, Penttinen Type
Short distal phalanx of finger, Elevated circulating thyroid-stimulating hormone concentration, D... OMIM:601812
Mirage Syndrome
Radial club hand, Lymphopenia, Overlapping fingers, Hyperkalemia, Hypospadias, Hypoplastic spleen... OMIM:617053
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Delayed skeletal maturation, Hypoglycemia, Postnatal growth retardation, Polydactyly, Delayed clo... ORPHA:231140
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Severe short stature, Intrauterine growth retardation, Hypoglycemia OMIM:223500
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Clinodactyly of the 2nd finger, Diaphyseal undertubulation, Patellar dislocation, Finger joint hy... OMIM:620663
Grange Syndrome
Aortic regurgitation, Increased susceptibility to fractures, Hypertension, Patent ductus arterios... ORPHA:79094
Mohr-Tranebjaerg Syndrome
Dystonia, Increased susceptibility to fractures, Tremor OMIM:304700
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypotension, Type I diabetes mellitus, Pituitary adenoma, Graves disease, Hypo... ORPHA:199299
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Limited hip movement, Delayed pubic bone ossification, Limited elbow moveme... OMIM:183900
Al-Gazali Syndrome
Osteopenia, Broad distal phalanx of finger, Proximal radio-ulnar synostosis, Hydronephrosis, Wris... OMIM:609465
X-Linked Dominant Chondrodysplasia Punctata
Epiphyseal stippling, Anterior rib punctate calcifications, Hydronephrosis, Severe postnatal grow... ORPHA:35173
Hamamy Syndrome
Osteopenia, Hypochromic anemia, Neck pterygia, Microcytic anemia, Short 2nd finger, Prolonged QRS... OMIM:611174
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Gout, Spl... OMIM:232220
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hypoglycemia, Tremor, Pancrea... ORPHA:263455
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Mitral regurgitation, Hypopl... OMIM:271640
Frank-Ter Haar Syndrome
Osteopenia, Flared metaphysis, Delayed cranial suture closure, Cortical irregularity, Bowing of t... OMIM:249420
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Increased circulating IgE level, Osteomyelitis, Joint hypermobility, Eosinophilia, Cr... ORPHA:2314
Shwachman-Diamond Syndrome 1
Nephrocalcinosis, Proximal femoral epiphysiolysis, Delayed skeletal maturation, Persistence of he... OMIM:260400
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Growth delay, Cardiomyopathy, Hypoglycemia, Splenomegaly, Renal tubular acidosis, Elevated circul... ORPHA:264580
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Slender finger, Broad-based gait, Clinodactyly, Hypoglycemia, Intrauterine growth retardation, Jo... ORPHA:391408
Cone-shaped epiphysis, Square pelvis bone, Respiratory distress, Death in infancy, Joint hypermob... ORPHA:166272
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Bruising susceptibility, Abnormal epiphysis morphology, Apnea, Abnormal metaphysis ... ORPHA:667
Pseudohypoparathyroidism Type 1B
Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm... ORPHA:94089
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Osteopenia, Gastrointestinal hemorrhage, Congestive heart failure, Respira... ORPHA:363705
ERI1-related disease
Osteopenia, Delayed skeletal maturation, Tricuspid regurgitation, Slender metacarpals, Intrauteri... OMIM:608739
Antley-Bixler Syndrome
Camptodactyly of finger, Delayed cranial suture closure, Joint stiffness, Femoral bowing, Arachno... ORPHA:83
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Elevated circulating creatinine concentration, Intrauterine growth retardat... OMIM:616733
Schimke Immunoosseous Dysplasia
Shallow acetabular fossae, Lymphopenia, Pancytopenia, Abnormal immunoglobulin level, Disproportio... OMIM:242900
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Palpitations, Hypoketotic hypoglycemia, R... ORPHA:324575
Familial Nasal Acilia
Respiratory distress, Dyspnea ORPHA:922
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Genu recurvatum, Osteopenia, Joint dislocation, Flared metaphysis, Dislocated radial head, Joint ... OMIM:130070
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Elevated circulating creatine kinase concentration, Camptodactyly of finger OMIM:614399
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress OMIM:619466
Campomelic Dysplasia
Small abnormally formed scapulae, Hip dislocation, Tracheomalacia, Femoral bowing, Tibial bowing,... ORPHA:140
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Short stature, Recur... OMIM:268315
Cinca Syndrome
Joint dislocation, Growth delay, Abnormal joint morphology, Leukocytosis, Splenomegaly, Purpura, ... ORPHA:1451
Kenny-Caffey Syndrome, Type 1
Small hand, Slender long bone, Delayed skeletal maturation, Hypomagnesemia, Intrauterine growth r... OMIM:244460
Insulin-Like Growth Factor I Deficiency
Osteopenia, Delayed skeletal maturation, Postnatal growth retardation, Intrauterine growth retard... OMIM:608747
Hoxha-Aliu Syndrome
Overlapping toe, Absent fifth metatarsal, Patellar dislocation, Short distal phalanx of the 5th f... OMIM:620662
Mucopolysaccharidosis-Plus Syndrome
Death in childhood, Neutropenia, Nephrotic syndrome, Patent ductus arteriosus, Clubbing, Focal se... OMIM:617303
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Osteopenia, Contractures of the large joints, Elevated circulating creatine... ORPHA:329178
Bardet-Biedl Syndrome 16
Respiratory distress, Hypogonadism, Stage 5 chronic kidney disease, Renal insufficiency, Polydact... OMIM:615993
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Sandal gap, Hypoglycemia, Congestive heart failure, Hypoplasia of pen... ORPHA:2022
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Broad-based gait, Long hallux, Thin bony cortex, Long fingers, Short stature, Osteoporosis, Recur... OMIM:309583
Distal Renal Tubular Acidosis
Osteomalacia, Renal potassium wasting, Aminoaciduria, Rickets, Increased susceptibility to fractu... ORPHA:18
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress OMIM:300580
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hypoglycemia, Dicarboxylic aciduria, Hyperammonemia, Elev... ORPHA:42
Hajdu-Cheney Syndrome
Aortic valve stenosis, Decreased skull ossification, Bowing of the long bones, Patellar dislocati... ORPHA:955
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Respiratory distress ORPHA:673
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Cardiomyopathy OMIM:609016
Sapho Syndrome
Vasculitis, Craniofacial osteosclerosis, Osteomyelitis, Recurrent fractures, Hyperostosis, Synovi... ORPHA:793
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Hemophagocytosis, Delayed... OMIM:222700
Meier-Gorlin Syndrome 1
Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndactyly, Genu v... OMIM:224690
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Broad phalanges of the hand, Joint stiffness, Broad metatarsal, Mitral reg... OMIM:277600
Intermediate Nemaline Myopathy
Difficulty walking, Flexion contracture, Arthrogryposis multiplex congenita, Multiple prenatal fr... ORPHA:171433
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea OMIM:263000
Congenital Syphilis
Periostitis, Extramedullary hematopoiesis, Hypoglycemia, Hepatosplenomegaly, Intrauterine growth ... ORPHA:499009
Moebius Syndrome
Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger, Respiratory dis... OMIM:157900
Glycogen Storage Disease Vi
Hypoglycemia, Postnatal growth retardation, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, I... ORPHA:470
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Congestive heart failure, Intrauterine growth retardation, Apnea, Decreased plasma ... OMIM:619048
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Shortened QT interval, Pituitary... ORPHA:652
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Congenital hip dislocation, Bruising susceptibility, Intrauterine growth retardation,... OMIM:612940
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Short finger, Akinesia, Intrauterine growth retardation, Increased susceptibil... OMIM:253290
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles... ORPHA:289548
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia, Unsteady gait, Hypoglycemia OMIM:610090
Pleural Mesothelioma
Respiratory distress, Dyspnea ORPHA:50251
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Severe short stature, High iliac wing, Coarse metaphyseal trabecularizatio... ORPHA:2780
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles... ORPHA:168558
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Rhizomelia, Abnormal bleeding, Congestive heart failure, Respiratory distress, Leukopenia... OMIM:616271
Addison Disease
Adrenal calcification, Hypoparathyroidism, Renal salt wasting, Hyperkalemia, Thymoma, Androgen in... ORPHA:85138
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Atrioventricular block, Heparan sulfate excretion in urine, Joint stif... ORPHA:581
Osteootohepatoenteric Syndrome
Avascular necrosis of the capital femoral epiphysis, Increased serum bile acid concentration, Pro... OMIM:619377
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Arrhythmia, Polycystic kidney dysplasia, Tapered toe, Elevated circulating creatinine concentrati... OMIM:608836
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Oligosacchariduria, Congestive heart failure, Difficulty walking, Keratan s... ORPHA:423461
Gomez-Lopez-Hernandez Syndrome
Decreased response to growth hormone stimulation test, Wormian bones, Ataxia, Short stature, Cran... OMIM:601853
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Aminoaciduria, Aortic valve stenosis, Joint dislocation, Elevated urinary homogentisic acid, Join... ORPHA:56
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Large posterior fontanelle, Delayed cranial suture closure, Hypopitu... ORPHA:226307
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Short finger, Intrauterine growth retardation, Increased susceptibility to fra... OMIM:312150
Osteopenia, Decreased circulating IgG level, Abnormal bleeding, Respiratory distress, Arrhythmia,... ORPHA:79329
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Generalized dystonia, Inability to walk, Increased susceptibility to fractures, Opi... ORPHA:216866
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Oculogyric crisis, Hypoglycemia, Increased circulating prolactin concentration, Trem... ORPHA:35708
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Broad phalanges of the hand, Delayed skeletal maturation, Congestive heart... OMIM:608328
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Pulmonary embolism, Subcutaneous hemorrhage, Joint stiffness, Genu v... ORPHA:394
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypoglycemia, Hypertrophic cardiomyopathy, Adrenal insufficiency, Renal insufficie... OMIM:619386
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent hypoglycemia, Postnatal growth retardation, Renal tubular acidosis, Splenomegaly, Eleva... ORPHA:79240
Farber Disease
Short toe, Short finger, Respiratory distress, Hepatosplenomegaly, Abnormality of the wrist, Abno... ORPHA:333
Solitary Fibrous Tumor
Urinary retention, Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Reduced C-pept... ORPHA:2126
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Decreased circulating carnitine co... ORPHA:3337
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea ORPHA:140896
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... OMIM:619752
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Hypertrophic cardiomyopathy, Death in childhood, Ataxia, Dystonia, Increased serum ... OMIM:246900
Elevated circulating catecholamine level, Elevated urinary homovanillic acid, Abnormal bleeding, ... ORPHA:635
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Limitation of joint mobility, Large fontanelles, Arthropathy, Wormian bones, Osteolyt... OMIM:259100
Multiple Myeloma
Nephropathy, Osteopenia, Acute kidney injury, Pathologic fracture, Elevated circulating creatinin... ORPHA:29073
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Insulin-resistant diabetes mellitus, Ivory epiphyses of the toes, Genu valg... OMIM:226980
Dysostosis, Stanescu Type
Abnormal epiphysis morphology, Persistent open anterior fontanelle, Massively thickened long bone... ORPHA:1798
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Osteopenia, Hypotension, Growth delay, Hypoglycemia, Ectopic anterio... ORPHA:90695
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Abnormal oral glucose tolerance, ... ORPHA:276580
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Growth delay, Delayed skeletal maturation, Delayed cranial suture closure, Hyp... ORPHA:93325
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Contractures of the large joints... ORPHA:2457
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Ventricular ... ORPHA:36913
Osteogenesis Imperfecta, Type Vi
Bowing of the arm, Increased susceptibility to fractures, Joint hypermobility, Elevated circulati... OMIM:613982
Cerebrotendinous Xanthomatosis
Osteopenia, Resting tremor, Somatic sensory dysfunction, Abnormal tibia morphology, Abnormal femu... ORPHA:909
Wiskott-Aldrich Syndrome
Nephropathy, Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia... ORPHA:906
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Generalized aminoaciduria, Hypouricemia, Rickets, Glycosuria, Beta 2-... OMIM:227810
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Osteopenia, Rickets, Growth delay, Hypoglycemia, Delayed skeletal maturation, Pa... OMIM:613658
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia, Hypertrophic cardiomyopathy, Inability to walk, Loss of ambulation, Gait disturbanc... OMIM:618241
Hyperinsulinemic Hypoglycemia, Familial, 8
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyper... OMIM:620211
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276575
Hajdu-Cheney Syndrome
Osteopenia, Foot acroosteolysis, Hypospadias, Pathologic fracture, Genu valgum, Fibular bowing, J... OMIM:102500
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Congenital contracture, Death in infancy, Elevated circulating creatine kin... OMIM:615042
Bronchopulmonary Dysplasia
Respiratory distress, Dyspnea, Central apnea ORPHA:70589
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Short distal phalanx of finger, Limitation of joint mobility, Large fontanell... ORPHA:90153
Dyskeratosis Congenita
Bone marrow hypocellularity, Coarse metaphyseal trabecularization, Intrauterine growth retardatio... ORPHA:1775
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypoglycemia, Hypertriglyceridemia ORPHA:366
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Hip dislocation, Shoulder flexion contracture, Joint dislocation, ... OMIM:193700
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Hypoke... ORPHA:276556
Paget Disease Of Bone 6
Nephrocalcinosis, Recurrent fractures, Osteoarthritis, Bone pain OMIM:616833
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Osteoarthritis of the elbow, Wrist swelling, Short femoral neck, Camptodactyly of finger, Polyart... ORPHA:2848
Rin2 Syndrome
Bruising susceptibility, Increased susceptibility to fractures, Joint hypermobility, Brachydactyl... ORPHA:217335
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Delayed cranial suture closure, Aplasia/Hypoplasia of... OMIM:113000
Neuropathy, Hereditary Sensory And Autonomic, Type V
Pain insensitivity, Urinary incontinence, Impaired vibratory sensation, Impaired pain sensation, ... OMIM:608654
Spondyloocular Syndrome
Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Long toe, Thin bony cortex, Long fin... OMIM:605822
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Hyperoxaluria, Primary, Type I
Nephrocalcinosis, Atrioventricular block, Arterial occlusion, Pathologic fracture, Hyperoxaluria,... OMIM:259900
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Respiratory distress, Paradoxical respiration, Distal arthrogry... OMIM:620011
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Arterial occlusion,... ORPHA:416
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Erlenmeyer flask deformity of the femurs, Pathologic fracture, ... OMIM:230800
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,... ORPHA:73230
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Delayed skeletal maturation, Delayed cranial suture closure, Respiratory distress, Inability to w... OMIM:619383
Van Maldergem Syndrome 1
Osteopenia, Renal hypoplasia, Growth delay, Tracheomalacia, Clinodactyly, Cutaneous finger syndac... OMIM:601390
Marshall-Smith Syndrome
Death in childhood, Bullet-shaped middle phalanges of the hand, Premature ventricular contraction... OMIM:602535
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Postnatal growth retardation, Short first metatarsal, Epiphyseal stippling,... OMIM:619135
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Abnormal bleeding, Abnormal circulating lipid concentration, Decreased HDL cholestero... ORPHA:77293
Potocki-Shaffer syndrome
Delayed cranial suture closure DECIPHER:34
Glycerol Kinase Deficiency
Growth delay, Hypoglycemia, Increased urinary glycerol, Pathologic fracture, Adrenal insufficienc... OMIM:307030
Congenital Insensitivity To Pain With Severe Intellectual Disability
Pain insensitivity, Osteomyelitis, Tibial bowing, Impaired tactile sensation, Congenital bilatera... ORPHA:453510
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Clinodactyly, Postnatal growth retardation, Pancytopenia, Intr... ORPHA:2169
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Joint dislocation, Bruising susceptibility, Arterial rupture, Joint hypermobility, Short stature,... OMIM:619120
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Shortening of all phalanges of fingers, Hy... OMIM:114290
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Arthrogryposis multiplex congenita, Patent ductus arteriosus, Multiple prena... OMIM:616867
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Idiopathic Hypereosinophilic Syndrome
Swelling of proximal interphalangeal joints, Hepatosplenomegaly, Neutrophilia, Myeloproliferative... ORPHA:3260
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Osteopenia, Ataxia, Nephrocalcinosis, Hydroureter, Restrictive cardi... OMIM:615398
Aplastic clavicle, Persistent open anterior fontanelle, Wormian bones, Brachydactyly, Narrow ilia... OMIM:265800
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Respiratory distress, Elb... ORPHA:1145
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Fractures of the long bones, Bruising susceptibility, Hepatosplenom... ORPHA:464329
Porphyria, Congenital Erythropoietic
Osteopenia, Joint contracture of the hand, Pathologic fracture, Elevated circulating uroporphyrin... OMIM:263700
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Generalized aminoaciduria, Hyperinsulinemia, Renal tubular dysfunction OMIM:606528
Hallermann-Streiff Syndrome
Small hand, Tracheomalacia, Congestive heart failure, Proportionate short stature, Hypothyroidism... ORPHA:2108
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Rocker bottom foot, Congestive heart failure, Respiratory distress, Hyper... ORPHA:3342
Mulibrey Nanism
Congestive heart failure, Intrauterine growth retardation, Thickened cortex of long bones, Short ... OMIM:253250
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Small hand, Hyperphosphatemia, Delayed skeletal maturation, Decreased resp... OMIM:241410
Pathologic fracture, Hypercalcemia, Bone pain ORPHA:55881
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Pathologic fracture, Increased susceptibility to fractures, Tibial bowing, Joint hype... OMIM:259770
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Tremor, Pancreatic islet-cell ... ORPHA:276608
Neonatal Hemochromatosis
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentration ORPHA:446
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Pain insensitivity, Broad-based gait, Painless fractures due to injury, Recurrent hypoglycemia, R... OMIM:256810
Schwartz-Jampel Syndrome
Elbow dislocation, Abnormality of the ureter, Genu valgum, Hip contracture, Bowing of the long bo... ORPHA:800
Cutis Laxa, Autosomal Recessive, Type Iiia
Congenital hip dislocation, Hypoornithinemia, Delayed skeletal maturation, Intrauterine growth re... OMIM:219150
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Growth... ORPHA:90674
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival bleeding, Osteopenia, Bruising susceptibility, Short toe, Postnatal growth retardation, ... OMIM:225410
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Methylmalonic aciduria, Hypoglycemia, Intrauterine growth retardation, Hyperglycinemia, Death in ... OMIM:245400
Craniosynostosis 6
Right unilambdoid synostosis, Delayed cranial suture closure, Bicoronal synostosis, Spina bifida ... OMIM:616602
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Intrauterine growth retardation, Apnea, Hyperammonemia, Loss of ambulation, Craniof... OMIM:618253
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Delayed skeletal maturation, Respiratory distress, Wrist hypermobility, Joint hypermobility, Hip ... ORPHA:544503
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Choreoathetosis, Hypoglycemia, Elevated circulating tiglylglycine co... OMIM:300438
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Finger swelling, Osteomalacia, Postnatal growth retardation, Genu ... OMIM:309000
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Hypoglycemia OMIM:615158
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Ethylmalonic aciduria, Decreased circulating carnit... ORPHA:26791
Tyrosinemia, Type I
Hypermethioninemia, Nephrocalcinosis, Gastrointestinal hemorrhage, Elevated urinary succinylaceto... OMIM:276700
Wilson Disease
Bruising susceptibility, Pathologic fracture, Difficulty walking, Splenomegaly, Joint swelling, T... ORPHA:905
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Postnatal growth retardation, Radial head subluxation, Advance... OMIM:615777
Lowry-Maclean Syndrome
Osteopenia, Hypospadias, Widely patent coronal suture, Growth delay, Small anterior fontanelle, I... ORPHA:2409
Glycogen Storage Disease Iii
Hypoglycemia, Cardiomyopathy, Hyperlipidemia, Elevated circulating creatine kinase concentration,... OMIM:232400
Erdheim-Chester Disease
Abnormal epiphysis morphology, Congestive heart failure, Osteomyelitis, Renal insufficiency, Join... ORPHA:35687
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Delayed skeletal maturation, Recurrent hypoglycemia, Intrauterine growth retard... OMIM:616817
Congenital Diaphragmatic Hernia
Respiratory distress ORPHA:2140
Vasculitis, Vasospasm, Granuloma, Respiratory distress, Osteomyelitis, Abnormality of the spleen,... ORPHA:228123
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Goiter, Papillary thyroid carcinoma, Nodular goiter, Recurrent frac... ORPHA:319487
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Anterior pituitar... ORPHA:95494
Van Maldergem Syndrome 2
Osteopenia, Renal hypoplasia, Cutaneous syndactyly of toes, Growth delay, Tracheomalacia, Clinoda... OMIM:615546
Cole-Carpenter Syndrome
Intrauterine growth retardation, Joint hypermobility, Bowing of the long bones, Wormian bones, Sh... ORPHA:2050
Elevated urinary norepinephrine level, Respiratory distress, Stiff neck, Tremor, Elevated circula... ORPHA:3299
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Oliguria, Congestive heart failure, Renal insufficiency, Pulmonary arterial ... ORPHA:220393
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Disproportionate short-limb short stature, Short toe, Postnatal ... OMIM:611717
Microcephalic osteodysplastic primordial dwarfism, type III
Severe short stature, Ulnar deviation of finger, Slender long bone, Delayed cranial suture closur...