Gene Summary

sulfatase modifying factor 1

IMPC Data Collections

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
enlarged heart Sumf1tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal heart morphology Sumf1tm1b(KOMP)Wtsi HET Early adult 0.00
increased circulating alanine transaminase level Sumf1tm1b(KOMP)Wtsi HET Early adult 1.31×10-05
preweaning lethality, incomplete penetrance Sumf1tm1b(KOMP)Wtsi HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 50% (1 of 2)
Olfactory lobe  Section images heterozygote 50% (1 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

45 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Sumf1 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 Sumf1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Sumf1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Cardiomegaly OMIM:227150
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetab... ORPHA:750
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Disproportionate short stature, Ovoid vertebral bodies, Short long bone, Co... OMIM:611702
Limited elbow extension, Childhood onset short-limb short stature, Aplasia/hypoplasia of the extr... OMIM:146000
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Disproportionate short-limb short s... ORPHA:174
Brachyolmia Type 1, Hobaek Type
Scoliosis, Squared-off platyspondyly, Short iliac bones, Flattened proximal radial epiphyses, Kyp... OMIM:271530
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Ataxia, Sea-blue histiocytosis, Spastic tetraplegia, Decreased beta-galactosidase ... OMIM:230600
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Severe short ... OMIM:618728
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Atrophy of the dentate nucleus, Tremor, Truncal ataxia, Aplasia of the inferi... OMIM:610185
Scoliosis, Hyperlordosis, Short toe, Childhood onset short-limb short stature, Abnormal form of t... ORPHA:429
Atelosteogenesis, Type Ii
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Sandal gap, Flat acetabular roof, Short... OMIM:256050
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Disproportionate short stature, Abnormal form of the vertebral bodies, ... ORPHA:40
Parastremmatic Dwarfism
Scoliosis, Genu valgum, Kyphosis, Severe short stature, Short neck OMIM:168400
Lopes-Maciel-Rodan Syndrome
Scoliosis, Tremor, Hypertonia, Abnormal pyramidal sign, Kyphosis, Ankle clonus, Bradykinesia, Sei... OMIM:617435
Spastic Paraplegia 18, Autosomal Recessive
Spastic paraplegia, Scoliosis, Upper limb spasticity, Kyphosis, Seizure, Lower limb spasticity, B... OMIM:611225
Spondylometaphyseal Dysplasia, Schmidt Type
Genu valgum, Platyspondyly, Hypoplastic pelvis, Short long bone, Metaphyseal dysplasia, Joint dis... ORPHA:93316
Acrocapitofemoral Dysplasia
Scoliosis, Hyperlordosis, Flared iliac wing, Short palm, Ovoid vertebral bodies, Cone-shaped epip... ORPHA:63446
Acrocapitofemoral Dysplasia
Scoliosis, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finger, Cone-shaped... OMIM:607778
Metaphyseal Dysplasia Without Hypotrichosis
Abnormality of the vertebral column, Metaphyseal irregularity, Metaphyseal cupping of metacarpals... OMIM:250460
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Metaphyseal chondrodysplasia, Babinski sign OMIM:300660
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Limited elbow extension, Irregular epiphyses, Ovoid vertebral bodies, Narrow iliac... OMIM:608728
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Disproportionate short stature, Metaphyseal irregularity, Ce... OMIM:602557
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Genu valgum, Abnormality of the ankles, Abnormality of epiphysis morphol... ORPHA:166002
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Seizure, Small hand, Short stature, Short foot, Talipes equinovarus, Hip dis... OMIM:300434
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Childhood o... OMIM:177170
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Seizure, Cerebellar atrophy, Stereotypy, Short stature, Progressive microcephaly OMIM:617862
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Kyphosis, Ataxia, Seizure, Lumbar hyperlordosis, Lower limb spasticity, Short stature,... OMIM:616756
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Genu valgum, Hyperlordosis, Mild short stature, Metaphyseal irregularity, Kyphosis, Ov... ORPHA:93315
Benign Cephalic Histiocytosis
Histiocytosis, Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Multiple Metaphyseal Dysplasia
Hyperlordosis, Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of ep... ORPHA:93430
Metatropic Dysplasia
Scoliosis, Platyspondyly, Enlarged joints, Anisospondyly, Long coccyx, Flared femoral metaphysis,... OMIM:156530
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Cerebellar hypoplasia, Ataxia OMIM:213000
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Overlapping fingers, Scoliosis, Congenital hip dislocation, Kyphosis, Cerebellar hypoplasia, Hand... OMIM:618291
Mental Retardation, X-Linked 82
Seizure, Scoliosis, Kyphosis OMIM:300518
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Rigidity OMIM:617018
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Scoliosis, Perisylvian polymicrogyria, Kyphosis, Cerebellar hypoplasia, Ataxia, Seizure, Small ha... OMIM:618443
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubic bone, Severe... OMIM:151210
Histiocytosis, Familial Lipochrome
Polyarticular arthritis, Histiocytosis OMIM:235900
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Genu valgum, Hyperlordosis, Disproportionate short stature, Coronal cleft vertebrae, A... OMIM:618363
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Flat acetabular roof, Narrow greater sciatic notch, Cone-shaped epiphyses of the phala... OMIM:609616
Odontochondrodysplasia 1
Scoliosis, Short phalanx of finger, Flared iliac wing, Flat acetabular roof, Small epiphyses, Con... OMIM:184260
Metaphyseal Acroscyphodysplasia
Scoliosis, Abnormality of femur morphology, Bowing of the long bones, Cone-shaped epiphysis, Seve... ORPHA:1240
Pelger-Huet Anomaly
Short 4th metacarpal, Short 3rd metacarpal, Upper limb undergrowth, Mild short stature, Polydacty... OMIM:169400
Masa Syndrome
Spastic paraplegia, Talipes equinovarus, Hyperlordosis, Kyphosis, Lower limb spasticity, Short st... OMIM:303350
Atypical Rett Syndrome
Scoliosis, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Kyphosis, Growth delay, Seizure, Sm... ORPHA:3095
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Enlarged joints, Limb undergrowth, Lumbar hyperlordosis, Bowing of the l... ORPHA:156728
Genu recurvatum, Limb undergrowth, Short long bone, Short neck, Brachydactyly, Hepatosplenomegaly ORPHA:221054
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Preaxial hand polydactyly, Short neck, Wide anterior fontanel, Abnormali... ORPHA:3098
Spondyloepimetaphyseal Dysplasia, Irapa Type
Genu valgum, Platyspondyly, Upper limb undergrowth, Short metatarsal, Abnormality of the ribs, Di... ORPHA:93351
Diastrophic Dysplasia
Costal cartilage calcification, Hypoplastic cervical vertebrae, Neonatal short-limb short stature... OMIM:222600
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Seizure, Congenital bilateral hip dislocation, Short stature, Talipes equinovarus ORPHA:85288
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Metaphyseal irregularity, Bowing of the legs, Delayed epiphyseal ossification, Squared... ORPHA:93352
Borjeson-Forssman-Lehmann Syndrome
Shortening of all distal phalanges of the fingers, Scoliosis, Cervical spinal canal stenosis, Wid... OMIM:301900
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Seizure, Cerebellar atrophy OMIM:141500
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Scoliosis, Recurrent aspiration pneumonia, Tremor, Clumsiness, Abnormal enzyme/coenzyme activity,... ORPHA:2590
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Seizure, Abnormal cerebellum morpho... OMIM:615362
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Coronal cleft vertebrae, Limb u... OMIM:118651
Thoracomelic Dysplasia
Hyperlordosis, Genu valgum, Disproportionate short-limb short stature, Elbow dislocation, Short r... ORPHA:1803
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Multiple joint dislocation, Hip subluxation, Metaphyseal irregularity, Delayed epiphys... ORPHA:93360
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Upper limb spasticity, Camptodactyly, Knee clonus, Ankle... OMIM:275900
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Camptodactyly, Kyphosis, Short thumb, Short stature, Clinodactyly of the 5th finger OMIM:618453
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Lumbar platyspondyly, Beaking of vertebral bodies, Patent ductus arteriosus,... OMIM:618961
Diastrophic Dwarfism
Scoliosis, Elbow dislocation, Abnormality of the metacarpal bones, Abnormality of the ribs, Abnor... ORPHA:628
Papular Xanthoma
Histiocytosis ORPHA:158008
4Q21 Microdeletion Syndrome
Scoliosis, Tremor, Toe syndactyly, Kyphosis, Growth delay, Cerebellar hypoplasia, Seizure, Small ... ORPHA:238750
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Limb undergrowth, Short stature, Kyphoscoliosis, Microcep... OMIM:122900
Ataxia-Pancytopenia Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neutrophils, Abnormal macrophage morphology,... ORPHA:2585
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hip dysplasia, Rocker bottom foot, Talipes equinovarus, Scoliosis, Short neck, Abnormal anterior ... OMIM:611890
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Short neck, Osteoarthri... ORPHA:1427
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Short neck, Atlantoaxial instability, Genu valgum, Limited elbow extension... ORPHA:239
Bowing of the legs, Flat acetabular roof, Narrow greater sciatic notch, Limited elbow extension, ... ORPHA:15
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bon... ORPHA:2632
Generalized Epilepsy With Febrile Seizures-Plus
Tremor, Incoordination, Febrile seizure (within the age range of 3 months to 6 years), Limited kn... ORPHA:36387
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... OMIM:614561
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Greenberg Dysplasia
Platyspondyly, Severe short-limb dwarfism, Abnormal form of the vertebral bodies, Rhizomelia, Ant... ORPHA:1426
Ruvalcaba Syndrome
Scoliosis, Limited elbow extension, Short metatarsal, Short phalanx of finger, Kyphosis, Short fo... OMIM:180870
Hip Dysplasia, Beukes Type
Hip dysplasia, Scoliosis, Abnormal ossification involving the femoral head and neck, Abnormality ... ORPHA:2114
Kyphomelic Dysplasia
Anterior rib cupping, Disproportionate short stature, Abnormal form of the vertebral bodies, Bowi... ORPHA:1801
Adult Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the cerebellum, Tremor, Clumsiness, Abnormality of extrapyramidal motor fun... ORPHA:79262
Laron Syndrome
Severe short stature, Limb undergrowth, Abnormal joint morphology, Short long bone, Delayed menarche OMIM:262500
Hypermanganesemia With Dystonia 2
Scoliosis, Tremor, Ankle clonus, Bradykinesia, Cerebellar atrophy, Parkinsonism, Babinski sign, S... OMIM:617013
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Abnormality of epiphysis morphology, Elbow dislocation, Bowing of the lo... ORPHA:2631
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Scoliosis, Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Abnormal cerebell... OMIM:270500
Scoliosis, Genu valgum, Platyspondyly, Enlarged joints, Metaphyseal enchondromatosis, Anisospondy... ORPHA:85198
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Craniosynostosis, Short phalanx of finger, Decreased proportion of CD4... ORPHA:508533
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Scoliosis, Tremor, Ankle clonus, Bradykinesia, Cerebellar atrophy, Parkinsonism, Babinski sign, P... ORPHA:521406
Griscelli Syndrome, Type 2
Seizure, Hemophagocytosis, Hepatosplenomegaly, Spasticity OMIM:607624
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Focal-onset seizure, Hypertonia, Thoracic kyphosis, Ataxia, Clinodactyly, Sy... OMIM:619092
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Seizure, Cerebellar atrophy, Myoclonus OMIM:616187
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Proportionate short stature, Abnormality of epiphysis morphology, Osteoarthritis, ... ORPHA:93283
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Phalangeal dislocation, Broad first metatarsal, Sandal gap, Flat ace... OMIM:251450
Rhizomelic Chondrodysplasia Punctata
Scoliosis, Epiphyseal stippling, Abnormality of epiphysis morphology, Rhizomelia, Growth delay, L... ORPHA:177
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, Abno... ORPHA:2635
Thanatophoric Dysplasia
Abnormal ilium morphology, Hip dysplasia, Platyspondyly, Gray matter heterotopia, Micromelia, Kyp... ORPHA:2655
Bone Dysplasia, Lethal Holmgren Type
Severe short-limb dwarfism, Abnormal thumb morphology, Abnormality of epiphysis morphology, Rhizo... ORPHA:1842
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Cerebellar atrophy, Spasticity ORPHA:217012
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip dysplasia, Shortening of all distal phalanges of the fingers, Growth delay, 2-3 toe syndactyl... OMIM:616809
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Cubitus valgus, Tarsal synostosis, Abnormality of the ankles, Synostosis... ORPHA:1836
Dyssegmental Dysplasia With Glaucoma
Platyspondyly, Wide anterior fontanel, Broad long bones, Short long bone, Flared metaphysis, Shor... OMIM:601561
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Limb undergrowth, Abnormality of neuronal migration, Hepatom... ORPHA:2204
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Elevated circulating creatine kinase co... OMIM:617713
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Scoliosis, Tremor, Focal-onset seizure, Delayed menarche, Bilateral tonic-clonic seizure, Status ... ORPHA:330050
Distal Monosomy 17Q
Abnormal thumb morphology, Abnormal form of the vertebral bodies, Micromelia, Patent ductus arter... ORPHA:1597
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Flared iliac wing, Slurred speech, Kyphosis, Anterior beaking of lumbar... OMIM:230650
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Kyphosis, Sandal gap, Seizure, Small hand, Relative macrocephaly, Cerebellar... OMIM:300354
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Action tremor, Ataxia, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Cerebellar atrophy OMIM:615945
Sandhoff Disease
Kyphosis, Ataxia, Seizure, Hepatomegaly, Splenomegaly, Macrocephaly ORPHA:796
Thanatophoric Dysplasia, Type I
Lethal short-limbed short stature, Metaphyseal irregularity, Gray matter heterotopia, Hypoplastic... OMIM:187600
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Elevated circulating creatine kinase concentr... OMIM:600649
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... ORPHA:3344
Horizontal Gaze Palsy With Progressive Scoliosis
Seizure, Scoliosis, Kyphosis, Short neck ORPHA:2744
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Scoliosis, Limb dysmetria, Head tremor, Upper limb spasticity, Kyphosis, Knee... OMIM:614409
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Thoracic kyphosis, Postnatal ... OMIM:223800
Autism Spectrum Disorder Due To Auts2 Deficiency
Scoliosis, Hypertonia, Kyphosis, Joint contracture of the 5th finger, Seizure, Stereotypy, Joint ... ORPHA:352490
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Gliosis, Limb ataxia, Cerebellar hypoplasia, Ataxia, Dysmetr... OMIM:213200
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Scoliosis, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses ... OMIM:250215
Intellectual Developmental Disorder, X-Linked 12
Tremor, Hip subluxation, Gliosis, Cerebellar vermis hypoplasia, Hyperkinetic movements, Abnormali... OMIM:300957
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Cerebellar atrophy ORPHA:423296
Acromicric Dysplasia
Short phalanx of finger, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Severe short ... OMIM:102370
Multiple Epiphyseal Dysplasia Type 1
Hip dysplasia, Genu valgum, Disproportionate short stature, Finger joint hypermobility, Short lon... ORPHA:93308
L-2-Hydroxyglutaric Aciduria
Aplasia/Hypoplasia of the cerebellum, Abnormality of extrapyramidal motor function, Spastic tetra... ORPHA:79314
Cdkl5-Deficiency Disorder
Scoliosis, Generalized tonic seizure, Broad proximal phalanges of the hand, Focal-onset seizure, ... ORPHA:505652
Metaphyseal Chondrodysplasia, Kaitila Type
Proximal femoral metaphyseal irregularity, Limited elbow extension, Metaphyseal chondrodysplasia,... OMIM:250230
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Hammertoe OMIM:615048
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Disproportionate short stature, Abnormal form of the vertebral bodies, M... ORPHA:1354
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Scoliosis, Tremor, Degeneration of anterior horn cells, Seizure, Tongue fasciculations, Myoclonus... OMIM:159950
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Enlarged joints, Short finger, Kyphosis, Severe short stature, Thoracolumbar scoli... OMIM:313420
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Congenital Disorder Of Glycosylation, Type Ie
Tremor, Upper limb undergrowth, Elevated hepatic transaminase, Camptodactyly, Pontocerebellar atr... OMIM:608799
Hypomelanosis Of Ito
Scoliosis, Hand polydactyly, Gray matter heterotopia, Kyphosis, Radial deviation of finger, Seizu... OMIM:300337
Mental Retardation, Autosomal Dominant 55, With Seizures
Seizure, Tremor, Gait ataxia, Generalized myoclonic seizure OMIM:617831
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Hepatic fibrosis, Hepatomegaly, Cerebellar atrophy, Hepatic failure,... OMIM:616719
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Elevated circulating creatine kinase concentration, Car... OMIM:300257
X-Linked Dominant Chondrodysplasia Punctata
Hip dysplasia, Abnormal vertebral morphology, Abnormality of epiphysis morphology, Rhizomelia, He... ORPHA:35173
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Hip dysplasia, Dislocated radial head, Scoliosis, Platyspondyly, Limited elbow extension, Abnorma... ORPHA:93359
Gm1 Gangliosidosis
Scoliosis, Abnormality of extrapyramidal motor function, Patent ductus arteriosus, Bilateral toni... ORPHA:354
Smith-Mccort Dysplasia 1
Scoliosis, Genu valgum, Atlantoaxial instability, Multicentric femoral head ossification, Platysp... OMIM:607326
Jaberi-Elahi Syndrome
Scoliosis, Talipes equinovarus, Tremor, Gait ataxia, Kyphosis, Seizure, Cerebellar atrophy, Dysme... OMIM:617988
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Ataxia, Cerebellar atrophy, Spasticity OMIM:615889
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Seizure, Conj... OMIM:603552
Cerebrooculofacioskeletal Syndrome 4
Dislocated radial head, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Hypertonia, Fl... OMIM:610758
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Distal shortening of limbs, Rhizomelia, Metaphyseal cupping of metacarpals, Metaph... OMIM:300863
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Short finger, Rhiz... OMIM:608940
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Scoliosis, Kyphosis, Absent pubertal growth spurt, Ataxia, Bilateral tonic-clonic seizure, Seizur... ORPHA:464282
Mesomelic Dysplasia, Nievergelt Type
Scoliosis, Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostos... ORPHA:2633
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Cerebellar atrophy, Bab... OMIM:615768
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis, Large hands, Seizure, Short stature, Tapered finger ORPHA:276630
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Severe short stature, Coxa vara, Flared, irregular rib ends, Short palm, Micromelia ORPHA:168555
Acromesomelic Dysplasia, Hunter-Thompson Type
Scoliosis, Severe short-limb dwarfism, Tarsal synostosis, Abnormality of the ankles, Elbow disloc... ORPHA:968
Ruvalcaba Syndrome
Scoliosis, Abnormality of vertebral epiphysis morphology, Synostosis of carpal bones, Kyphosis, A... ORPHA:3121
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Micrognathia, Kyphosis, 2-3 toe syndactyly, Seizure, Clinodactyly, Microcephaly, Brachydactyly, T... OMIM:617061
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hip dysplasia, Tremor, Gliosis, Upper limb spasticity, Hyperkinetic movements, Cerebellar dysplas... ORPHA:457240
Leri-Weill Dyschondrosteosis
Scoliosis, Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bone... OMIM:127300
Ck Syndrome
Scoliosis, Hyperlordosis, Pachygyria, Kyphosis, Seizure, Polymicrogyria, Abnormal digit morpholog... OMIM:300831
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Microcephaly, Frequent fal... OMIM:607317
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Short stature OMIM:312910
Hall-Riggs Mental Retardation Syndrome
Scoliosis, Platyspondyly, Kyphosis, Irregular vertebral endplates, Seizure, Metaphyseal dysplasia... OMIM:234250
Combined Oxidative Phosphorylation Deficiency 45
Seizure, Tremor, Short neck, Ataxia OMIM:618951
Widow'S Peak Syndrome
Mild short stature, Hip osteoarthritis, Kyphosis, Narrow iliac wing, Recurrent patellar dislocati... OMIM:314570
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Gait ataxia, Limb ataxia, Kyphosis, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity OMIM:610743
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Patent ductus arteriosus, Thora... ORPHA:457395
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Seizure, Prolonged neonatal jaundice, Macrocephaly, Tapered finger OMIM:618512
Roifman Syndrome
Recurrent pneumonia, Biconvex vertebral bodies, Delayed proximal femoral epiphyseal ossification,... ORPHA:353298
Scoliosis, Platyspondyly, Square pelvis bone, Bowing of the long bones, Cone-shaped epiphysis, Pa... ORPHA:166272
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Wormian bones, Wide anterior fontanel, Bilateral talipes equinovarus, Shortening o... OMIM:601356
Marinesco-Sjogren Syndrome
Scoliosis, Cubitus valgus, Gait ataxia, Short metatarsal, Limb ataxia, Kyphosis, Short metacarpal... OMIM:248800
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hip dysplasia, Scoliosis, Kyphosis, Hypoplastic iliac wing, Short distal phalanx of finger, Seizu... ORPHA:1858
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormality of the elbow, Short 5th metacarp... ORPHA:1350
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Camptodactyly of finger, Kyphosis, Abnormal pyramidal sign, Ataxia, Intrauterine growt... ORPHA:48431
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Increased head circumference, Flat acetabular roof, Small epiphyses, Short femoral nec... ORPHA:94068
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Slender finger, Sh... OMIM:609813
Roifman Syndrome
Recurrent pneumonia, Biconvex vertebral bodies, Recurrent otitis media, Irregular vertebral endpl... OMIM:616651
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Kyphosis, Brachydactyly, Short stature OMIM:618392
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Truncal ataxia, Diffuse cerebellar atrophy, Limb d... ORPHA:363710
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Cerebellar hypoplasia, Ataxia, Seizure, Abnormal cerebellar vermis morphology... ORPHA:33445
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Metaphyseal widening, Platyspondyly, Periventricular heterotopia, Kyphosis, Cerebellar hypoplasia... OMIM:618476
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Postaxial hand polydactyly, Rhizomelia, Mesomelia, Short foot, Short metacarpal, Brachydactyly OMIM:611263
Sponastrime Dysplasia
Scoliosis, Hip subluxation, Metaphyseal irregularity, Flattened humeral epiphyses, Neutropenia, I... ORPHA:93357
Dravet Syndrome
Poor fine motor coordination, Photosensitive myoclonic seizure, Focal hemiclonic seizure, Focal a... ORPHA:33069
Thanatophoric Dysplasia Type 1
Platyspondyly, Lethal short-limbed short stature, Short femur, Wide anterior fontanel, Gray matte... ORPHA:1860
Jeune Syndrome
Abnormality of the ribs, Postaxial hand polydactyly, Toe syndactyly, Cone-shaped epiphysis, Posta... ORPHA:474
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Tremor, Gait ataxia, Abnormal pyramidal sign, Retrocerebellar cyst, Ataxia, S... OMIM:614831
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Arnold-Chiari type I malformation, Myoclonic absence seizure, Ataxia, Bradykinesia, Bilat... OMIM:617836
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia gliosis, Gliosis, Cerebellar cyst, Limb undergrowth, Ataxia, Bilateral tonic-clonic... ORPHA:79243
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Tremor, Chronic otitis media, Spastic diplegia, Postnatal growth retardation, Seizure, Abnormal s... ORPHA:480907
Epilepsy, Progressive Myoclonic, 6
Scoliosis, Tremor, Atonic seizure, Ataxia, Seizure, Generalized non-motor (absence) seizure, Myoc... OMIM:614018
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Lumbar scoliosis, Irregular vertebral endplates, Bowing of the legs, Lower limb un... OMIM:612847
Spondyloperipheral Dysplasia
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Leukodystrophy, Hypomyelinating, 6
Tremor, Choreoathetosis, Ataxia, Seizure, Cerebellar atrophy, Short stature, Microcephaly, Rigidi... OMIM:612438
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Seizure, Frequent falls OMIM:616921
X-Linked Intellectual Disability, Hedera Type
Scoliosis, Apraxia, Extrapyramidal muscular rigidity, Atonic seizure, Slurred speech, Action trem... ORPHA:93952
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Joint swelling, Thoracic kyphosis, Flattened femoral head, Abn... ORPHA:93284
Progressive Pseudorheumatoid Dysplasia
Metaphyseal widening, Camptodactyly of finger, Platyspondyly, Enlarged interphalangeal joints, Jo... OMIM:208230
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Micrognathia, Bowing of th... OMIM:249710
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Platyspondyly, Aplasia/Hypoplasia of the capital femoral epiphysis, Enlarged joints, Large tarsal... OMIM:215150
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scoliosis, Genu valgum, Hyperlordosis, Butterfly vertebrae, Limited elbow extension, Finger joint... OMIM:618870
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Seizure, Short stature, Microcephaly OMIM:614947
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Micrognathia, Kyphosis, Abnormal hip bone morphology, Short stature, Abnormality o... ORPHA:2522
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Aplasia/... OMIM:113000
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Hammertoe OMIM:618387
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Seizure, Status epilepticus, Spasticity OMIM:614307
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Bilateral tonic-clonic seizure, Seizure, Focal sensory seizure, Focal sensory seizure wit... OMIM:615400
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Severe short-limb dwarfism, Poo... ORPHA:1263
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Short neck, Rhizomelia, Camptodactyly, Vertebral segmentation defect, Postnatal growth... OMIM:611209
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Colitis, Pancytopenia,... OMIM:300635
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Hip osteoarthritis, Irregular epiphyses, Kyphosis, Hypoplastic iliac wi... OMIM:313400
Skin rash, Pneumonia, Short distal phalanx of finger, Pancytopenia, Bowing of the legs, Spasticit... ORPHA:1855
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Micrognathia, Brachydactyly, Mesomelia ORPHA:1277
Osteopetrosis, Autosomal Recessive 5
Decreased osteoclast count, Stillbirth, Clonus, Extramedullary hematopoiesis, Growth delay, Pancy... OMIM:259720
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Limb undergrowth, Short long bone, Micrognathia, Micromelia ORPHA:1423
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Hyperalaninemia, Cardiomegaly, Hyperprolinemia OMIM:619170
Thanatophoric Dysplasia Type 2
Platyspondyly, Kyphosis, Patent ductus arteriosus, Abnormality of neuronal migration, Seizure, Ab... ORPHA:93274
Hip dysplasia, Scoliosis, Synostosis of joints, Hypoplastic inferior ilia, Kyphosis, Bowing of th... ORPHA:61
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Hypophosphatasia, Infantile
Platyspondyly, Craniosynostosis, Stillbirth, Metaphyseal cupping, Short ribs, Seizure, Rachitic r... OMIM:241500
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Scoliosis, Tremor, Hypertonia, Babinski sign, Hammertoe, Spasticity OMIM:609260
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis, Ataxia, Seizure, Cerebellar atrophy, Prominent metopic ridge ORPHA:85317
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypertonia, Seizure, Myoclonus, Microcephaly, Choreoathetosis OMIM:261630
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Dislocated radial head, Platyspondyly, Disproportionate short stature, Delayed ossification of ca... OMIM:617425
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Seizure, Cerebellar atrophy, Myoclonus OMIM:612016
Atkin-Flaitz Syndrome
Scoliosis, Genu valgum, Genu recurvatum, Kyphosis, Seizure, Short stature, Macrocephaly, Tapered ... OMIM:300431
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Platyspondyly, Limited elbow extension, Metaphyseal irregularity, Biconcave vertebra... OMIM:271510
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Poor fine motor coordination, Abnormal pyramidal sign, Action tr... ORPHA:98762
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Seizure, Myoclonus OMIM:611092
Multiple Osteochondromas
Radial bowing, Genu valgum, Scoliosis, Abnormality of tibia morphology, Elbow dislocation, Synost... ORPHA:321
Bethlem Myopathy 2
Hip dislocation, Kyphosis OMIM:616471
Neuraminidase Deficiency
Bone-marrow foam cells, Epiphyseal stippling, Vacuolated lymphocytes, Slurred speech, Hepatomegal... OMIM:256550
Hall-Riggs Syndrome
Scoliosis, Platyspondyly, Abnormality of epiphysis morphology, Limb undergrowth, Seizure, Short s... ORPHA:2107
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Atonic seizure, Absence seizure with eyelid myocloni... OMIM:618587
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Scoliosis, Metaphyseal irregularity, Carpal bone hypoplasia, Disproportionate short-limb short st... OMIM:250420
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Seizure, Cerebellar atrophy, Dysmetria, Rigidity, Generalized myoclonic seizure OMIM:618090
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hepatomegaly, Short stature, Splenomegaly OMIM:607616
Seckel Syndrome 1
Scoliosis, Proportionate short stature, Postnatal growth retardation, Sandal gap, Pancytopenia, C... OMIM:210600
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Chorea, Poor fine motor coordination, Ataxia, Seizure, Cerebellar atrophy, My... ORPHA:79263
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Macrocephaly, Kinetic tremor, Tremor OMIM:611808
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Scoliosis, Recurrent otitis media, Cerebellar hypoplasia, Cerebellar dysplasia, Patent ductus art... ORPHA:500159
Mend Syndrome
Overlapping fingers, Overlapping toe, Polydactyly, Microretrognathia, Hypertonia, 2-3 toe syndact... OMIM:300960
Desbuquois Dysplasia 2
Broad thumb, Short phalanx of finger, Cutaneous syndactyly, Postnatal growth retardation, Flat ac... OMIM:615777
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Hypoplasia of the radius, Radioulnar synostosis, Mesomelia, Intrauterine ... OMIM:617604
Hyperlordosis, Wormian bones, Abnormality of the vertebral column, Abnormal vertebral morphology,... ORPHA:763
Generalized Eruptive Histiocytosis
Elevated total serum tryptase, Maculopapular exanthema, Histiocytosis, Hypereosinophilia, Leukemia ORPHA:157991
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Ankle flexion contracture, Kyphoscoliosis OMIM:616668
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Scoliosis, Tremor, Gait ataxia, Hypertonia, Ataxia, Cerebellar atrophy, Cerebellar gliosis, Dysme... OMIM:616505
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Ataxia, Postnatal growth retardation, Seizure, Myoc... ORPHA:391417
Saul-Wilson Syndrome
Talipes equinovarus, Platyspondyly, Short metatarsal, Wide anterior fontanel, Neutropenia, Postna... OMIM:618150
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis, Aplasia/Hypoplasia of the cerebellum, Tremor, Hypertonia, Photosensitive myoclonic... ORPHA:1192
Atelosteogenesis Type Ii
Short phalanx of finger, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatars... ORPHA:56304
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, T... OMIM:255120
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, Frequent falls, Short neck, Micrognathia, Kyphosis, Increased laxity of fingers, Torti... ORPHA:75840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Pachygyria, Cerebellar cyst, Kyphosis, Vertebral fusion, Cerebellar atr... OMIM:606612
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Talipes cavus equinovarus, Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxi... ORPHA:139485
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
4-5 toe syndactyly, Patellar subluxation, Spastic paraparesis, Thoracic kyphosis, 2-3 toe syndact... ORPHA:3041
Sjögren-Larsson Syndrome
Scoliosis, Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Seizure, Short stature, Microceph... ORPHA:816
Greenberg Dysplasia
Epiphyseal stippling, Short phalanx of finger, Sandal gap, Abnormal pelvis bone ossification, Abn... OMIM:215140
3M Syndrome
Scoliosis, Rocker bottom foot, Hyperlordosis, Increased vertebral height, Short neck, Congenital ... ORPHA:2616
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Kniest Dysplasia
Delayed epiphyseal ossification, Short neck, Vertebral wedging, Flexion contracture of finger, Co... ORPHA:485
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelic short stature, Madelung de... OMIM:249700
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Horizontal ribs, Abn... ORPHA:1505
Immunodeficiency 27A
Thrombocytosis, Increased inflammatory response, Leukocytosis, Salmonella osteomyelitis, Pneumoni... OMIM:209950
Clark-Baraitser syndrome
Scoliosis, Genu valgum, Genu recurvatum, Kyphosis, Seizure, Macrocephaly, Tapered finger, Short palm OMIM:300602
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Myoclonus, Ataxia OMIM:616366
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Wormian bones, Short femur, Short neck, Micrognathia, Beaded ribs, Cerebellar hypo... OMIM:616897
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Seizure, Cerebellar atrophy, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Thrombocytopenia, Cerebellar atrophy, Myoclonus, Int... OMIM:254900
Achondrogenesis Type 2
Delayed pubic bone ossification, Delayed proximal femoral epiphyseal ossification, Hypoplastic il... ORPHA:93296
Patterson Pseudoleprechaunism Syndrome
Irregular acetabular roof, Genu valgum, Small cervical vertebral bodies, Cervical platyspondyly, ... OMIM:169170
X-Linked Charcot-Marie-Tooth Disease Type 3
Hip dysplasia, Scoliosis, Tremor, Spastic paraparesis ORPHA:101077
Mental Retardation, Autosomal Dominant 57
Scoliosis, Craniosynostosis, Kyphosis, Seizure, Short stature, Microcephaly, Otitis media OMIM:618050
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis, Delayed puberty, Anemia, Microcephaly, Micrognathia ORPHA:2598
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Tremor, Myoclonus, Bilateral tonic-clonic seizure OMIM:615127
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Kyphosis, Knee flexion contracture, Talipes equinovarus, Elbow flexion ... OMIM:600175
Multicentric Reticulohistiocytosis
Histiocytosis, Arthritis ORPHA:139436
Zimmermann-Laband Syndrome 3
Absent distal phalanx of the 2nd toe, Kyphosis, Patent ductus arteriosus, Aplasia of the distal p... OMIM:618658
Chondrodysplasia, Blomstrand Type
Squared iliac bones, Advanced tarsal ossification, Stillbirth, Short ribs, Flared metaphysis, Adv... OMIM:215045
X-Linked Intellectual Disability, Cabezas Type
Scoliosis, Camptodactyly of finger, Tremor, Cubitus valgus, Biparietal narrowing, Toe syndactyly,... ORPHA:85293
C Syndrome
Scoliosis, Dislocated radial head, Postaxial hand polydactyly, Toe syndactyly, Patent ductus arte... OMIM:211750
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Tremor, Ataxia, Kyphosis ORPHA:101075
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Hepatomegaly, Seizure, Myoclonus, Spasticity OMIM:615924
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Postaxial hand polydactyly, Cerebellar vermis hypoplasia, Oculomotor apraxia, Short ... OMIM:615630
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Elbow dislocation, Micrognathia, Femoral bowing, Short neck, Elbow flexion contracture, Short fem... OMIM:210710
Short Stature-Obesity Syndrome
Limb undergrowth, Clinodactyly of the 5th finger, Short stature, Micrognathia, Brachydactyly, Mic... OMIM:269870
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Dispr... OMIM:200700
Elevated hepatic transaminase, Microcytic anemia, Kyphosis, Ataxia, Seizure, Abnormal cerebellum ... ORPHA:324737
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Bowing of the legs, Abnormality of fibula morphology, Arthralg... ORPHA:93323
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Cerebellar atrophy, Dysmetria, Babinski sign OMIM:607458
Microcephalic Primordial Dwarfism, Dauber Type
Hip dysplasia, Lumbar scoliosis, Madelung deformity, Limb undergrowth, Severe intrauterine growth... ORPHA:319675
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Myocl... ORPHA:98763
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Chorea, Hyperkinetic movements, Ataxia, Bilateral tonic-clonic seizure, Torticollis OMIM:618425
Atelosteogenesis Type I
Scoliosis, Platyspondyly, Short femur, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Carpal bone hypoplasia, Postnatal growth retardation, Anterior scallopin... OMIM:611717
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Mild short stature, Kyphosis, Congenital bilateral hip dislocation, Premature osteoart... OMIM:130060
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Short neck, Ataxia, Seizure, Spastic gait, Parkinsonism, Babinski sign, Microcephaly, Mic... OMIM:300055
Achondrogenesis Type 1B
Abnormality of the ribs, Disproportionate short stature, Short neck, Severe short stature, Short ... ORPHA:93298
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Apraxia, Gait ataxia, Cerebellar hypoplasia, Seizure, Cerebellar atrophy, Dysmetria, Spas... OMIM:617810
3-Methylglutaconic Aciduria, Type Viii
Tremor, Hypertonia, Growth delay, Neutropenia, Seizure, Secondary microcephaly OMIM:617248
Dyssegmental Dysplasia, Silverman-Handmaker Type
Anisospondyly, Bowing of the long bones, Short long bone, Neonatal death, Talipes equinovarus, Mi... OMIM:224410
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Epiphyseal stippling, Wide anterior fontanel, ... OMIM:619135
Fibrochondrogenesis 1
Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Short neck, Posterior vertebral ... OMIM:228520
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Cerebellar atrophy, Bilateral tonic-clonic seizure with ge... OMIM:619028
Acromesomelic Dysplasia, Maroteaux Type
Short metatarsal, Short phalanx of finger, Ovoid vertebral bodies, Cone-shaped epiphyses of the p... OMIM:602875
Bruck Syndrome 1
Scoliosis, Platyspondyly, Protrusio acetabuli, Kyphosis, Coxa vara, Pterygium, Knee flexion contr... OMIM:259450
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia, Seizure,... OMIM:300894
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Short humerus, Abnormality of t... ORPHA:2491
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad thumb, Elbow dislocation, Broad hallux phalanx, Hypoplasia of the... ORPHA:2249
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Elbow dislocation, Bowing of the long bones, Narrow iliac wing, Mesomeli... ORPHA:85170
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Mesomelia, Sacral dimple, Short distal phalanx of finger, Partial duplication of the... OMIM:616331
Mucopolysaccharidosis, Type Iva
Scoliosis, Genu valgum, Hyperlordosis, Platyspondyly, Constricted iliac wing, Ovoid vertebral bod... OMIM:253000
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Metaphyseal irregularity, Rhizomelia, Irregular epiphyses, 2-3 toe syndactyly,... OMIM:618162
Mesomelia-Synostoses Syndrome
Abnormality of the knee, Genu valgum, Abnormality of tibia morphology, Abnormality of femur morph... ORPHA:2496
Abnormality of long bone morphology, Abnormality of the vertebral column, Bronchiectasis, Neutrop... ORPHA:1163
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... OMIM:611302
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Squared iliac bones, Wormian bones, Dysplastic sacrum, Metaphyseal cupping, Short ribs, Severe pl... OMIM:613320
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Type II lissencephaly, Spastic diplegia, Postnatal growth retardation, Metatarsus adductus, Torti... ORPHA:300570
Astley-Kendall Dysplasia
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia ORPHA:85175
Congenital Disorder Of Glycosylation, Type Il
Short neck, Kyphosis, Hepatomegaly, Seizure, Cerebellar atrophy, Microcephaly, Hip dislocation, H... OMIM:608776
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Hyperalaninemia, Cardiomegaly, Hyperprolinemia OMIM:619064
Mucopolysaccharidosis, Type Ivb
Scoliosis, Genu valgum, Hyperlordosis, Platyspondyly, Constricted iliac wing, Ovoid vertebral bod... OMIM:253010
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Intrauterine growth reta... ORPHA:2772
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Talipes equinovarus, Short neck, Anisospondyly, Broad long bones, Hypoplasti... ORPHA:1865
Myoclonic-Atonic Epilepsy
Scoliosis, Tremor, Eyelid myoclonus, Ataxia, Generalized non-motor (absence) seizure OMIM:616421
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Kyphosis, Seizure, Macrocephaly, Spasticity ORPHA:2429
Scoliosis, Squared iliac bones, Anterior rib cupping, Disproportionate short-limb short stature, ... OMIM:258480
Shashi-Pena Syndrome
Macrocephaly, Scoliosis, Kyphosis, Seizure OMIM:617190
Chst3-Related Skeletal Dysplasia
Scoliosis, Genu valgum, Cubitus valgus, Enlarged joints, Abnormal form of the vertebral bodies, R... ORPHA:263463
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Enlarged joints, Carpal bone hypoplasia, Severe carpal ... OMIM:184252
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... OMIM:300106
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Clonus, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, ... ORPHA:397946
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Endocardial fibroelastosis, Hepatomegaly, Cardiomegaly, Hyperammonemi... OMIM:212140
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Chorea, Ataxia, Bilateral tonic-clonic seizure, Cerebellar atrophy, Parkinso... OMIM:618093
Broad thumb, Broad ribs, Growth delay, Hepatomegaly, Short long bone, Clinodactyly, Relative macr... ORPHA:370930
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Short phalanx of finger, Postaxial polydactyly, Limb undergrowth, Short distal ... OMIM:617102
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Broad thumb, Rhizomelia, Short finger, Irregular epiphyses, Mesomelia, Lumbar hype... OMIM:612813
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra... OMIM:260300
Mucolipidosis Iii Gamma
Scoliosis, Increased serum iduronate sulfatase level, Genu valgum, Hyperlordosis, Flared iliac wi... OMIM:252605
Sialidosis Type 2
Tremor, Kyphosis, Ataxia, Hepatomegaly, Seizure, Short stature, Splenomegaly ORPHA:87876
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Disproportionate short-limb short stature, Hypoplastic pelvis, Hypoplastic scapula... ORPHA:85166
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Short neck, Camptodactyly, Kyphosis, Micrognathia OMIM:618393
Epilepsy, Progressive Myoclonic, 1B
Tremor, Atonic seizure, Babinski sign, Dysmetria, Generalized myoclonic seizure OMIM:612437
Behr Syndrome
Tremor, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Mucopolysaccharidosis Type 4
Scoliosis, Genu valgum, Hyperlordosis, Platyspondyly, Abnormality of the ribs, Abnormality of epi... ORPHA:582
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Babinski sign OMIM:610245
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Spinal rigidity, Frequent falls, Short neck OMIM:300718
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia, Anemia OMIM:608898
Baralle-Macken Syndrome
Focal-onset seizure, Kyphosis, Microcephaly, Tapered finger, Spasticity OMIM:619255
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Genu valgum, Platyspondyly, Enlarged joints, Abnormality of epiphysis morphology, Kyph... ORPHA:93314
Spondylometaphyseal Dysplasia, Algerian Type
Anterior rib cupping, Genu valgum, Platyspondyly, Hypoplastic pelvis, Carpal bone hypoplasia, Fla... OMIM:184253
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Kyphosis, Severe short stature, Fibular bowing, Horizontal sacrum... OMIM:112350
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Tremor, Ataxia, Kyphosis ORPHA:101078
Microlissencephaly-Micromelia Syndrome
Short neck, Hypertonia, Cerebellar hypoplasia, Seizure, 11 pairs of ribs, Secondary microcephaly,... ORPHA:50810
Achondrogenesis Type 1A
Short neck, Severe short stature, Multiple rib fractures, Short foot, Macrocephaly, Micrognathia,... ORPHA:93299
Wieacker-Wolff Syndrome
Scoliosis, Talipes equinovarus, Hyperlordosis, Apraxia, Short neck, Camptodactyly, Kyphosis, Ocul... OMIM:314580
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Cerebellar edema, Bilateral tonic-clonic seizure, Stat... ORPHA:363558
Mental Retardation, Autosomal Dominant 26
Scoliosis, Hypertonia, Kyphosis, Short stature, Microcephaly, Cerebral palsy OMIM:615834
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cerebellar vermis morphology, Congenital hip dislocation, Persistent open anterior fonta... ORPHA:357058
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Elevated circulating aspartate aminotransferase concentration, Microcytic... OMIM:257200
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Marden-Walker Syndrome
Scoliosis, Talipes equinovarus, Short neck, Radioulnar synostosis, Wide anterior fontanel, Microg... OMIM:248700
Nivelon-Nivelon-Mabille Syndrome
Short phalanx of finger, Trapezoidal shaped vertebral bodies, Cerebellar vermis hypoplasia, Sever... OMIM:600092
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Seizure, Status... OMIM:616098
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Severe short-limb dwarfism, Elbow dislocation, Abnormall... OMIM:201250
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hip dysplasia, Scoliosis, Tremor, Hyperlordosis, Esophagitis, Elevated hepatic transaminase, Spee... OMIM:615356
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Eating-induced seizure, Poor coordination, Myoclonic absence seizure, Postaxial polydacty... ORPHA:544254
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Hyperlordosis, Patellar subluxation, Congenital finger flexion contractures, Micrognat... ORPHA:536516
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Abnormal vertebral morphology, Aplasia/hypoplasia involving bones of the extremiti... ORPHA:93346
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Hypoplastic ischia, Synda... OMIM:617866
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Sacral dimple, Vertebral fusion, Short long bone, Talipes equinovarus, ... OMIM:618845
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Kyphoscoliosis OMIM:619099
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Gm1 Gangliosidosis Type 1
Platyspondyly, Broad long bone diaphyses, Flared iliac wing, Beaking of vertebral bodies T12-L3, ... ORPHA:79255
Aicardi-Goutieres Syndrome 6
Microcephaly, Tremor, Hemolytic anemia, Rigidity OMIM:615010
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Oliv... OMIM:164500
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Wormian bones, Kyphosis, Beaded ribs, Short lower limbs, Disproportiona... OMIM:259440
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Choreoathetosis, Hypertonia, Ataxia, Bradykinesia, Seizure, Parkinsonism, Microcephaly, R... OMIM:261640
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Timothy Syndrome
Hypocalcemia, Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Tetralogy of Fallot OMIM:601005
Achondrogenesis, Type Ib
Stillbirth, Hypoplastic ilia, Short ribs, Absent or minimally ossified vertebral bodies, Neonatal... OMIM:600972
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Joubert Syndrome
Scoliosis, Tremor, Hand polydactyly, Biparietal narrowing, Abnormal form of the vertebral bodies,... ORPHA:475
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Lower limb spa... ORPHA:251282
Xeroderma Pigmentosum, Complementation Group G
Tremor, Growth delay, Ataxia, Microcephaly, Spasticity OMIM:278780
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Toe syndactyly, Short neck, Abnormality of epiphysis morphology, Microgn... ORPHA:3409
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Biparietal narrowing, Synostosis of carpal bones, Finger syndactyly, Short middle phal... ORPHA:1005
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Congenital hip dislocation, Hypoplastic scapulae, Hypoplast... ORPHA:93333
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Disproportionate short stature, Synostosis of carpal bones, Elbo... ORPHA:2634
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Involuntary movements, Parkinsonism with favorable response to dop... ORPHA:240103
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Kyphosis, Cerebellar atrophy, Short stature, Short toe, Brachydactyly ORPHA:3085
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scoliosis, Abnormal macrophage morphology, Frequent falls, Lumbar hyperlordosis ORPHA:353
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Focal hemifacial clonic seizure, Focal-onset seizure, Seizure, Myoclonus OMIM:608105
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Postaxial hand polydactyly, Toe syndactyly, Short neck, Abnormalit... ORPHA:3082
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Radioulnar synostosis, Lateral humeral condyle aplasia, Synostosis of ca... ORPHA:2741
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Parkinson Disease 19A, Juvenile-Onset
Tremor, Abnormal pyramidal sign, Bradykinesia, Seizure, Parkinsonism, Rigidity, Spasticity OMIM:615528
Cartilage-Hair Hypoplasia
Scoliosis, Neutropenia, Anemia, Abnormality of the metaphysis, Abnormality of the ribs, Short nec... ORPHA:175
Microcephaly-Micromelia Syndrome
Oligodactyly, Talipes equinovarus, Humeroradial synostosis, Craniosynostosis, Short neck, Intraut... OMIM:251230
Gm1-Gangliosidosis, Type I
Scoliosis, Thickened ribs, Short neck, Vacuolated lymphocytes, Beaking of vertebral bodies, Hyper... OMIM:230500
Beta-Propeller Protein-Associated Neurodegeneration