Gene Summary

Name:
sulfatase modifying factor 1
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Sumf1tm1b(KOMP)Wtsi HOM   Early adult 0.00
preweaning lethality, complete penetrance Sumf1tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal heart morphology Sumf1tm1b(KOMP)Wtsi HET Early adult 0.00
enlarged heart Sumf1tm1b(KOMP)Wtsi HET Early adult 0.00

Download data as:  TSV  XLS

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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 100% (2 of 2)
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 50% (1 of 2)
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 100% (2 of 2)
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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

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
phenotypes
Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Abnormal form of the verte... ORPHA:750
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor, Seizure, Cerebellar hypoplasia, Scoliosis OMIM:213000
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Brachyolmia Type 1, Hobaek Type
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... OMIM:271530
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... ORPHA:429
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Spastic Paraplegia 18B, Autosomal Recessive
Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Ankle clonus, Seizure, Upper ... OMIM:611225
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Thoracic scoliosis, Short stature, Ataxia, Tr... OMIM:610185
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lower limb spasticity, Lumbar hyperlordosis, Short stature, Ataxia, Microcephaly, Kyphosis, Hip d... OMIM:616756
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Narrow greater sciatic notc... OMIM:156530
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... ORPHA:166002
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Tremor, Kyphosis, Small hand, Abnormal pyramidal sign, Short foot, Ankle clon... OMIM:617435
Parastremmatic Dwarfism
Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Genu valgum, Scoliosis OMIM:168400
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short... ORPHA:40
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Short stature, Microcephaly, Kyphosis, Small hand, Hip dislocation, Short foot, Seizure, Talipes ... OMIM:300434
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h... OMIM:256050
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... OMIM:222600
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Short... ORPHA:63446
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of the phalanges of... OMIM:250460
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Pseudoachondroplasia
Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarth... OMIM:177170
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Microcephaly, Tremor, Babinski sign, Abnormal pyramidal ... OMIM:607317
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Short stature, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow e... OMIM:614078
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Histiocytosis ORPHA:157997
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Neonatal short-limb short stature, Severe limb shortening, Radial bowing,... OMIM:151210
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Seizure, Scoliosis OMIM:300518
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizur... ORPHA:330050
Histiocytosis, Familial Lipochrome
Polyarticular arthritis, Histiocytosis OMIM:235900
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Abnormal circulating enzyme concentration or activity, Bi... ORPHA:2590
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... OMIM:184260
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Rocker bottom foot, Short neck, Microcephaly, Kyphosis, P... OMIM:611890
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Acne, Short stature, Rhizomelia, Short neck, Abnormality of the humerus,... ORPHA:3098
X-Linked Intellectual Disability, Stocco Dos Santos Type
Short stature, Kyphosis, Congenital bilateral hip dislocation, Seizure, Talipes equinovarus ORPHA:85288
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Cerebellar atrophy, Short stature, Coxa valga, Elbow dislocation, Advanced ossification of carpal... OMIM:620269
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, D... OMIM:614561
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... OMIM:609616
Masa Syndrome
Lower limb spasticity, Short stature, Microcephaly, Hyperlordosis, Kyphosis, Spastic paraplegia, ... OMIM:303350
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of... OMIM:608728
Pelger-Huet Anomaly
Bilateral tonic-clonic seizure, Eczema, Abnormality of neutrophils, Kyphosis, Hyposegmentation of... OMIM:169400
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis, Short stature, Enlarged joints, Bowing of the legs, Disproportionate short-... ORPHA:156728
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Coxa vara, Hypoplastic il... OMIM:613330
Acrocephalopolydactyly
Genu recurvatum, Short neck, Hepatosplenomegaly, Short long bone, Limb undergrowth, Brachydactyly ORPHA:221054
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized my... ORPHA:36387
Achondroplasia
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... ORPHA:15
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia OMIM:141500
Stxbp1-Related Encephalopathy
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo... ORPHA:599373
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Short neck, Elbow flexion contracture... OMIM:616809
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morpholo... ORPHA:93351
Metaphyseal Acroscyphodysplasia
Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Sev... ORPHA:1240
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Short stature, Eczema, Ataxia, Kyphosis, Hip dysplasia, Tongue fasciculations, Progressive microc... OMIM:620007
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia... ORPHA:521406
Hypochondroplasia
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e... OMIM:146000
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Microcephaly, K... OMIM:301900
Diastrophic Dysplasia
Joint dislocation, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting... ORPHA:628
Spondyloepimetaphyseal Dysplasia, Shohat Type
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... OMIM:602557
Gm1-Gangliosidosis, Type Iii
Dystonia, Short stature, Ataxia, Kyphosis, Slurred speech, Flared iliac wing, Decreased beta-gala... OMIM:230650
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,... OMIM:118651
Atypical Rett Syndrome
Dystonia, Involuntary movements, Infantile spasms, Tremor, Kyphosis, Small hand, Limb myoclonus, ... ORPHA:3095
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutroph... ORPHA:2585
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Cerebellar hypoplasia, Limb dystonia, Bilateral coxa valga, Intrauterine growth r... OMIM:620270
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... ORPHA:93360
Thoracomelic Dysplasia
Short neck, Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Abnormal p... ORPHA:1803
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa... OMIM:618961
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Short stature, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger OMIM:618453
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Cog7-Cdg
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Short neck, Postnatal growth ret... ORPHA:79333
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Vertebral segmen... ORPHA:2631
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus OMIM:616187
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Short neck, Ovoid vertebra... OMIM:269250
Ruvalcaba Syndrome
Short metacarpal, Short stature, Micromelia, Microcephaly, Kyphosis, Limited elbow extension, Sma... OMIM:180870
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... ORPHA:79262
Greenberg Dysplasia
Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi... ORPHA:1426
Langer Mesomelic Dysplasia
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/... ORPHA:2632
Laron Syndrome
Severe short stature, Abnormal joint morphology, Short long bone, Limb undergrowth, Delayed menarche OMIM:262500
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Lower limb spasticity, Short stature, Absent pubertal growth spurt, Ataxia, Microcephaly, Bilater... ORPHA:464282
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Micrognathia, Dispropor... ORPHA:1801
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski... OMIM:615362
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Kyphosis, Spastic tetraplegia, Dystonia, Neon... OMIM:618237
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Short stature, Microcephaly, Splenomegaly, Abnormal limb bone morphology, Abnormali... ORPHA:2204
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Generalized-onset seizure, Limited elbow movement, Micrognathia, Increased intervertebral space, ... ORPHA:508533
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Broad ribs, Iliac crest serration, Rhizomelia, H... ORPHA:239
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Eczema, Short long bone, Stillbirth, Scoliosis, Camptodactyly, Neonatal... OMIM:619751
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial... ORPHA:1427
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Spasticity, Tremor, Gait ataxia ORPHA:217012
4Q21 Microdeletion Syndrome
Toe syndactyly, Micromelia, Short neck, Tremor, Kyphosis, Small hand, Short foot, Growth delay, S... ORPHA:238750
Rhizomelic Chondrodysplasia Punctata
Short stature, Rhizomelia, Microcephaly, Growth delay, Epiphyseal stippling, Abnormal epiphysis m... ORPHA:177
Griscelli Syndrome, Type 2
Seizure, Spasticity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Spastic Paraplegia 46, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Hand trem... OMIM:614409
Spondyloepiphyseal Dysplasia, Kimberley Type
Proportionate short stature, Micromelia, Osteoarthritis, Platyspondyly, Abnormal epiphysis morpho... ORPHA:93283
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retardation, Proxi... ORPHA:168549
Winchester Syndrome
Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals OMIM:277950
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Metaphyseal dysplasia, Hepatomegaly, Rhizomelia, Micromelia, Short neck, Abnor... ORPHA:1842
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Short stature, Microcephaly, Tremor, Abnormal cerebellum morphology... OMIM:300957
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Cerebellar gliosis, Seizu... ORPHA:79243
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Clonus, Short neck, Microcephaly, Splenomega... OMIM:615673
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Short stature, Kyphoscoliosis, Osteoarthritis, Abnormal fibul... ORPHA:85198
Sandhoff Disease
Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Seizure, Macrocephaly ORPHA:796
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Hippocampal sclerosis, Focal sensory seizure with visual ... OMIM:615400
Gm1 Gangliosidosis
Tremor, Abnormal form of the vertebral bodies, Decreased beta-galactosidase activity, Decerebrate... ORPHA:354
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Micromeli... ORPHA:2635
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... ORPHA:93308
Mesomelic Dysplasia, Kantaputra Type
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r... ORPHA:1836
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Relative macrocephaly, Sandal gap, Short stature, Tremor, Kyphosis, Small hand, Simplified gyral ... OMIM:300354
Thanatophoric Dysplasia
Micromelia, Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Gray matter... ORPHA:2655
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... OMIM:187601
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Short stature, Microcephaly, Spinal rigidity, Kyphosis, Hyperlordosis, Sei... OMIM:617404
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... ORPHA:3344
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Ataxia, Generalized myoclonic seizure, Coxa valga, Splenomegaly, Patent ductus arte... OMIM:230600
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Short stature, Ataxia, Tremor, Dysmetria, Gait ataxia, ... OMIM:213200
Cdkl5-Deficiency Disorder
Hallux valgus, Broad proximal phalanges of the hand, Infantile spasms, Kyphosis, Focal-onset seiz... ORPHA:505652
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... OMIM:251450
Distal Deletion 17Q
Aplasia/Hypoplasia of the thumb, Hepatomegaly, Prominent metopic ridge, Short stature, Micromelia... ORPHA:1597
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Microretrognathia, Hip contracture, Short stature, Kyphoscoliosis, Coxa valga, Hyperlordosis, Mic... OMIM:618363
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Seizure, Scoliosis, Short neck ORPHA:2744
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate short stature, Abnormal rib morp... ORPHA:1354
Dpm1-Cdg
Micrognathia, Knee flexion contracture, Hepatic fibrosis, Hepatic steatosis, Long hallux, Hepatom... ORPHA:79322
L-2-Hydroxyglutaric Aciduria
Spastic tetraparesis, Seizure, Abnormality of extrapyramidal motor function, Macrocephaly, Aplasi... ORPHA:79314
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cerebellar atrophy, Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed ... OMIM:619797
Hypomelanosis Of Ito
Syndactyly, Microcephaly, Kyphosis, Macrocephaly, Gray matter heterotopia, Seizure, Hand polydact... OMIM:300337
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... OMIM:223800
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Arachnodactyly, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Microc... OMIM:619092
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Enlarged joints, ... OMIM:313420
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Lower limb spasticity, Hyperlordosis, Kyphosis, Babinski sign, Knee flexion cont... OMIM:615290
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Metaphyseal widening, Coxa vara, Thoracic kyphosis, Neutropenia, Lumbar interpedicular narrowing,... OMIM:271510
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Kyphoscoliosis, Microcephaly, Short neck, Tremor,... OMIM:300055
Acromicric Dysplasia
Short metacarpal, Severe short stature, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot... OMIM:102370
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Postnatal growth retardation, Cupped ribs, ... OMIM:608940
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy OMIM:615957
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Microcephaly, Micromelia, Kyphosis,... ORPHA:3121
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Short metacarpal, Short stature, Ataxia, Coxa valga, Microcephaly, Kyphosis, ... OMIM:248800
Cerebrooculofacioskeletal Syndrome 4
Micrognathia, Simplified gyral pattern, Knee flexion contracture, Hypertonia, Wrist flexion contr... OMIM:610758
Smith-Mccort Dysplasia 1
Short neck, Short phalanx of finger, Genu varum, Short metacarpal, Iliac crest serration, Short s... OMIM:607326
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Short stature, Tapered finger, Kyphosis, Seizure, Large hands, Scoliosis ORPHA:276630
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Postnatal growth r... OMIM:313400
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... ORPHA:93316
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Thrombocytopenia, Jaundice, Splenomegaly, Seizure, Conjunctivitis, Hemop... OMIM:603552
Congenital Disorder Of Glycosylation, Type Ie
Short palm, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Ankle flexion contracture, Micro... OMIM:608799
O'Donnell-Luria-Rodan Syndrome
Tapered finger, Kyphosis, Seizure, Prolonged neonatal jaundice, Macrocephaly OMIM:618512
Roifman Syndrome
Hip contracture, Short metacarpal, Hepatomegaly, Biconvex vertebral bodies, Eczema, Eosinophilia,... OMIM:616651
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Tarsal synostosis, Camptodactyly o... ORPHA:2633
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Short stature, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs... OMIM:300863
Ck Syndrome
Microcephaly, Hyperlordosis, Kyphosis, Micrognathia, Seizure, Scoliosis, Pachygyria, Abnormal dig... OMIM:300831
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey... OMIM:616421
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint dislocation, Microretrognathia, Short stature, Monkey wrench femoral neck, Micromelia, Hype... OMIM:618870
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... ORPHA:968
Odontochondrodysplasia
Bowing of the long bones, Short stature, Micromelia, Coxa valga, Patent ductus arteriosus, Cone-s... ORPHA:166272
Roifman Syndrome
Hip contracture, Epiphyseal dysplasia, Biconvex vertebral bodies, Short stature, Eczema, Eosinoph... ORPHA:353298
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar hypoplasia, Trun... OMIM:615768
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Developmental Delay And Seizures With Or Without Movement Abnormalities
Short stature, Ataxia, Bilateral tonic-clonic seizure, Rigidity, Tremor, Chiari type I malformati... OMIM:617836
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... OMIM:609813
Hall-Riggs Syndrome
Metaphyseal dysplasia, Microcephaly, Kyphosis, Irregular vertebral endplates, Platyspondyly, Seiz... OMIM:234250
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Me... OMIM:601356
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... OMIM:271700
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... ORPHA:1860
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Growth delay, Choreoathetosis, Seizure, Lumbar kyphoscoliosis, Cerebellar hypopla... OMIM:619422
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le... OMIM:249710
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Pontocerebellar atrophy, Dysdiadochokinesis... OMIM:616053
Epilepsy, Progressive Myoclonic, 6
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myoclonu... OMIM:614018
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Patent ductus arteriosus, Kyphosis, Absent distal p... OMIM:618658
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Short stature, Ataxia, Tremor, Abnormal pyramidal s... OMIM:614831
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Microcephaly, Postnatal growth retardation, Tremor, Micrognathia, Prominent protruding coccyx, Sp... ORPHA:480907
Spondylometaphyseal Dysplasia, A4 Type
Severe short stature, Micromelia, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm ORPHA:168555
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Camptodactyly of finger, Ataxia, Micrognathia, Kyphosis, Abnormal pyramidal sign, ... ORPHA:48431
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Torticollis, Short neck, Spinal rigidity, Kyphosis, Micrognathia, Hip dislocation, Elbo... ORPHA:75840
Pallister-Hall-Like Syndrome
Toe syndactyly, Short stature, Micromelia, Microcephaly, Micrognathia, Postaxial hand polydactyly... OMIM:241800
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Chilblains, Microcephaly, Tremor, Splenomegaly, Rigidity, Dystoni... OMIM:615010
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tonic seizure, ... OMIM:618090
Niemann-Pick Disease, Type B
Hepatomegaly, Short stature, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Decreased ac... OMIM:607616
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Ta... OMIM:600175
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Brachydactyly, Short stature, Kyphosis, Seizure, Hip dysplasia, Scoliosis, Hypoplastic iliac wing... ORPHA:1858
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... ORPHA:457395
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly OMIM:611263
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Short stature, Eczema, Microcephaly, Micrognathia, Kyphosis, Seizure, Hypertonia,... ORPHA:352490
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Diffuse cerebellar atro... ORPHA:363710
Hypophosphatasia, Infantile
Craniosynostosis, Bowing of the legs, Micromelia, Vertebral clefting, Low alkaline phosphatase, A... OMIM:241500
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizu... OMIM:617810
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Hallux valgus, Contracture of the proximal interphalangeal joint of the 2nd finger, Delayed closu... OMIM:130060
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... OMIM:618587
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... ORPHA:1350
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Short stature, Micromelia, Short neck, Wide distal femoral metaphysis, Pos... OMIM:613320
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Bilateral tonic-clonic seizure, Microcephaly, Tremor, Seizure, Hip dysplasia, Hype... ORPHA:457240
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Short stature, Tarsal syno... OMIM:112910
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Congenital hip dislocation, Femur fracture, Cerebellar vermis hypoplasia, Ulnar de... OMIM:618291
Spondyloenchondrodysplasia
Bowing of the legs, Chorea, Juvenile rheumatoid arthritis, Short stature, Autoimmune thrombocytop... ORPHA:1855
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Micrognathia, Increased head circumference, Abnorm... ORPHA:94068
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short stature, Kyphosis, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly OMIM:618392
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Autoinflammatory-Pancytopenia Syndrome
Arthropathy, Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal infla... OMIM:619858
Jeune Syndrome
Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Abnormal rib morphology, P... ORPHA:474
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, S... OMIM:300635
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Hepatic fibrosis, Talip... OMIM:616719
Sponastrime Dysplasia
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip... ORPHA:93357
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvi... OMIM:184252
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Cerebellar vermis hypoplasia, Short neck, Micrognathia, Vertebral segmentatio... OMIM:611209
Osseous Heteroplasia, Progressive
Limb undergrowth OMIM:166350
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Generalized-onset seiz... ORPHA:79263
Thanatophoric Dysplasia Type 2
Short stature, Micromelia, Kyphosis, Patent ductus arteriosus, Abnormality of neuronal migration,... ORPHA:93274
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Mesomelia, Micrognathia, Brachydactyly ORPHA:1277
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Prominent metopic ridge, Ataxia, Kyphosis, Seizure, Scoliosis ORPHA:85317
Niemann-Pick Disease, Type A
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Bone-... OMIM:257200
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Microcephaly, Tremor, Elbow flexion contracture, Simplified gyral pattern, ... OMIM:619470
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Progressive cereb... ORPHA:139485
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Camptodactyly, Neonatal... OMIM:618393
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... OMIM:187600
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ... ORPHA:93296
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Short phalanx of finger, Hypoplastic cer... ORPHA:56304
Autosomal Recessive Cutis Laxa Type 2A
Persistent open anterior fontanelle, Cerebellar vermis hypoplasia, Congenital hip dislocation, Ge... ORPHA:357058
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Metaphyseal dysplasia, Eosinophilia, Kyphoscoliosis, Coxa valga, Disproport... OMIM:617425
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Microg... OMIM:255800
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Ataxia, Micrognathia, Hypoplasia of the pons, Kyphosis, Head titubation, Bron... OMIM:619708
Pelizaeus-Merzbacher Disease
Generalized dystonia, Short stature, Reduction of oligodendroglia, Writer's cramp, Microcephaly, ... OMIM:312080
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Alpha-Mannosidosis
Hepatomegaly, Bowing of the long bones, Short neck, Kyphosis, Splenomegaly, Macrocephaly, Arthrit... ORPHA:61
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tapered finger, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria,... OMIM:616505
Baralle-Macken Syndrome
Microcephaly, Tapered finger, Kyphosis, Focal-onset seizure, Dystonia, Spasticity OMIM:619255
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Fractured radius, Decreased fibular diameter, Short neck, Be... OMIM:616897
Hall-Riggs Syndrome
Short stature, Microcephaly, Seizure, Platyspondyly, Abnormal epiphysis morphology, Scoliosis, Li... ORPHA:2107
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements, Dyst... OMIM:618425
Papular Xanthoma
Histiocytosis ORPHA:158008
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Short long bone, Flared elbow metaphyses, Limb undergrowth ORPHA:1423
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos... OMIM:208230
Dystonia 28, Childhood-Onset
Torticollis, Short stature, Microcephaly, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular... OMIM:617284
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebellar atrophy, Hepatomegaly, Generalized-onset seizure, Short stature, Thoracolumbar scolios... OMIM:618443
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short stature, Hyperlordosis, Short neck, Kyphosis, Microcephaly, Micrognathia, Abnormal rib morp... ORPHA:2522
Bethlem Myopathy 2
Kyphosis, Hip dislocation, Scoliosis OMIM:616471
Atelosteogenesis, Type I
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vert... OMIM:108720
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... OMIM:249700
3M Syndrome
Hypoplasia of the ulna, Congenital hip dislocation, Short stature, Rocker bottom foot, Micromelia... ORPHA:2616
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... OMIM:250420
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Dystonia... OMIM:615924
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Seckel Syndrome 1
Cerebellar vermis hypoplasia, Abnormal finger flexion crease, Micrognathia, Clinodactyly of the 5... OMIM:210600
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Gait ata... OMIM:617831
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Hyperphenylalaninemia, Bh4-Deficient, C
Microcephaly, Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dystonia OMIM:261630
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizur... OMIM:612016
Desbuquois Dysplasia 2
Short neck, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Genu varum, Short me... OMIM:615777
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Enlarged joints, Large tarsal bones, M... OMIM:215150
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... OMIM:619636
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Hammertoe OMIM:618387
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Short stature, Hyperlordosis, Tremor, Hypertonia, Photosensitive myoclonic seizure, Aplasia/Hypop... ORPHA:1192
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Periventricular heterotopia, Rigidity, Kyphosis, Metaphyseal wi... OMIM:618476
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Eczema, Microcephaly, Patent ductus arteriosus, Recurrent pneumonia, Seizure, Short 5th finger, C... ORPHA:500159
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Short stature, Ataxia, Microcephaly, Tremor, Rigidity, Choreoathetosis, Seizu... OMIM:612438
Microcephalic Primordial Dwarfism, Dauber Type
Short stature, Microcephaly, Abnormal carpal morphology, Madelung deformity, Severe postnatal gro... ORPHA:319675
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscol... ORPHA:3041
Sjögren-Larsson Syndrome
Short stature, Microcephaly, Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Seizure, Scolio... ORPHA:816
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Sc... OMIM:159950
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Split h... ORPHA:2019
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Limb dystonia, Generalized dystonia, Dystonia, Parkinsonism, Microcephaly, Tr... OMIM:617013
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Tremor, Chorea, Babinsk... OMIM:618093
Parkinson-Dementia Syndrome
Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign OMIM:260540
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Hsd10 Disease
Ataxia, Microcephaly, Postnatal growth retardation, Tremor, Rigidity, Choreoathetosis, Seizure, M... ORPHA:391417
Immunodeficiency 27A
Increased inflammatory response, Hypoplasia of the femoral head, Pneumonia, Splenomegaly, Leukocy... OMIM:209950
Wieacker-Wolff Syndrome
Dystonia, Short stature, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Microc... OMIM:314580
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Hypereosinophilia, Elevated total serum tryptase, Leukemia, Histiocytosis ORPHA:157991
Combined Oxidative Phosphorylation Deficiency 54
Microretrognathia, Generalized-onset seizure, Tremor, Retrobulbar optic neuritis, Hemiparesis, Se... OMIM:619737
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Severe short stature, Micromelia, Bowing of the legs, Hypoplastic ilia, Short n... ORPHA:1865
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cerebellar vermis hypoplasia, Short stature, Splenomegaly, Postaxial hand polydacty... OMIM:615630
Mitochondrial Myopathy And Sideroblastic Anemia
Microcephaly, Micrognathia, Kyphosis, Scoliosis, Delayed puberty, Anemia ORPHA:2598
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, A... OMIM:253000
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Infantile spasms, Microcephaly, Tremor, Growth delay, Spasticity OMIM:278780
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Kyphosis, Ataxia, Scoliosis ORPHA:101075
Weaver Syndrome
Short fourth metatarsal, Calcaneovalgus deformity, Hypertonia, Hypoplastic iliac wing, Prominent ... OMIM:277590
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Paroxysmal dystonia, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Kyp... OMIM:619909
C Syndrome
Hepatomegaly, Short metacarpal, Toe syndactyly, Short stature, Micromelia, Microcephaly, Microgna... OMIM:211750
Atelosteogenesis Type I
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem... ORPHA:1190
Bruck Syndrome 1
Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow f... OMIM:259450
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
Clark-Baraitser syndrome
Genu recurvatum, Tapered finger, Kyphosis, Genu valgum, Macrocephaly, Seizure, Scoliosis, Short palm OMIM:300602
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short stature, Kyphoscoliosis, Microcephaly, Patent ductus arteriosus, Hip dislocation, Seizure, ... OMIM:618005
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... OMIM:619644
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babins... OMIM:615157
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Microcephaly, Hypoplasia of the... OMIM:617604
X-Linked Intellectual Disability, Cabezas Type
Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Short neck, Microcep... ORPHA:85293
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Multicentric Reticulohistiocytosis
Arthritis, Histiocytosis ORPHA:139436
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi... OMIM:602875
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal synostosis, Abnormal morp... ORPHA:2639
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Short tibia, Ar... ORPHA:93323
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Thin ribs, Abnormal pelvic gir... OMIM:166210
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cerebellar ... ORPHA:98763
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Autosomal Recessive Spastic Paraplegia Type 53
Clonus, Microcephaly, Kyphosis, Upper limb hypertonia, Limb dystonia ORPHA:319199
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Short stature, Clonus, Microcephaly, Tremor, Cho... ORPHA:397946
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Seizure, Scoliosis, Macrocephaly, Spasticity ORPHA:2429
Ritscher-Schinzel Syndrome 3
Relative macrocephaly, Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Micrognathia, Postna... OMIM:619135
Greenberg Dysplasia
Micromelia, Beaded ribs, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia ... OMIM:215140
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Abnormal rib morphology, Hepatitis,... ORPHA:1163
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Talipes equinovarus, Scoliosis OMIM:617087
Mucolipidosis Iii Gamma
Increased iduronate sulfatase level, Short stature, Short neck, Flat capital femoral epiphysis, H... OMIM:252605
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Dystonia, Rhizomelia, Ataxia, Microcephaly, Tremor, Micrognathia, Recurrent p... OMIM:616271
Intellectual Developmental Disorder, Autosomal Dominant 26
Cerebral palsy, Short stature, Microcephaly, Micrognathia, Kyphosis, Hypertonia, Scoliosis, Clino... OMIM:615834
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Micromelia, Microcephaly, Abnormal rib morphology, Abnormality of neuronal migration, Disproporti... ORPHA:2772
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Scoliosis, Dystonia, Hemiatrophy ORPHA:306669
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Short stature, Micromelia, Microcephaly, Postaxial hand polydactyly, Split hand, A... ORPHA:2491
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Micromelia, Metatarsus adduct... ORPHA:2249
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Brain abscess, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Wide anterior fontanel, Ky... OMIM:616482
Saul-Wilson Syndrome
Enlarged epiphyses, Micrognathia, Short metatarsal, Irregular vertebral endplates, Overtubulated ... OMIM:618150
Sialidosis Type 2
Hepatomegaly, Short stature, Ataxia, Tremor, Splenomegaly, Kyphosis, Seizure ORPHA:87876
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Microcephaly, Kyphosis, Chorea, Abnormal pyramidal sign, Gait ataxia, Seizure, Abnormality of ext... ORPHA:500180
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia, Spatulate ribs, Spasticity, Hepatosplenomegaly, Hypoplast... ORPHA:79255
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Thoracic scoliosis, Cerebellar vermis hypoplasia, Micrognathia, Simplified gyral pattern, Macroce... ORPHA:300570
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Kyphosis, Dysmetria, Gait ataxia, Limb ataxia, Abnormality of extrapyramidal ... OMIM:610743
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Hyperlordosis, Tremor, Kyp... OMIM:128100
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Hypoplastic il... OMIM:611717
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Elbow... ORPHA:85170
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Speech apraxia, Short stature, A... OMIM:615356
Srd5A3-Cdg
Elevated hepatic transaminase, Cerebellar atrophy, Ataxia, Microcytic anemia, Kyphosis, Abnormal ... ORPHA:324737
Developmental And Epileptic Encephalopathy 89
Cerebellar atrophy, Microretrognathia, Epileptic spasm, Dystonia, Bilateral tonic-clonic seizure ... OMIM:619124
Developmental And Epileptic Encephalopathy 42
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... OMIM:617106
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Relative macrocephaly, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregu... OMIM:612813
Achondrogenesis Type 1B
Severe short stature, Micromelia, Short neck, Micrognathia, Disproportionate short stature, Abnor... ORPHA:93298
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Iron deficiency anemia, Hypoplastic iliac wing, Abnormal ve... ORPHA:93315
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure with generalize... OMIM:619028
Mesomelia-Synostoses Syndrome
Abnormality of the knee, Brachydactyly, Short stature, Micromelia, Micrognathia, Abnormality of t... ORPHA:2496
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Kyphosis, Ataxia, Scoliosis ORPHA:101078
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Patent ductus arteriosus, Short long bone, Vertebral segmentatio... OMIM:618845
Weismann-Netter Syndrome
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... OMIM:112350
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Decreased beta-galactosidase activ... OMIM:253010
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Microcephaly, Tremor, Growth delay, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxi... OMIM:612716
Pycnodysostosis
Persistent open anterior fontanelle, Micrognathia, Hypoplastic iliac wing, Rhizomelia, Hyperlordo... ORPHA:763
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Micromelia, Short neck, Seizure, Hypertonia, Secondary microcephaly, Cerebellar... ORPHA:50810
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Hepatomegaly, Short neck, Microcephaly, Kyphosis, Hip dislocation, Hepatosple... OMIM:608776
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Cerebellar vermis hypoplasia, Severe short stature, Bilateral tonic-clonic seiz... OMIM:600092
Astley-Kendall Dysplasia
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia ORPHA:85175
Chst3-Related Skeletal Dysplasia
Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Abnormality of the elbow, Dispropo... ORPHA:263463
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Hand clenching, F... ORPHA:240103
Xylt1-Cdg
Relative macrocephaly, Hepatomegaly, Joint dislocation, Acne, Short stature, Coxa valga, Microcep... ORPHA:370930
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Short stature, Coxa valga, Short neck, Hyperlordosis... ORPHA:582
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... ORPHA:85166
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Severe short stature, Micromelia, Microcephaly, Micrognathia, Short lon... OMIM:224410
4H Leukodystrophy
Cerebellar atrophy, Dystonia, Short stature, Ataxia, Tremor, Dysmetria, Seizure, Progressive gait... ORPHA:289494
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Rigidity, Tremor, Bradykinesia, Seizure, Spastic para... ORPHA:329284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Vertebral fusion, Microcephaly, Hyperlordosis, Kyphosis, Scoliosis, Frequent ... OMIM:606612
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal... OMIM:215045
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Short metatars... OMIM:617102
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Eczema, Allergic rhinitis, Ulnar deviation of the wrist, Patent ductus arteriosus, 2-... OMIM:618162
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Elev... ORPHA:529665
Tay-Sachs Disease
Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Aspiration pneumonia, Progressive spasticity, L... ORPHA:845
Immunodeficiency 37
Seizure, Colitis, Status epilepticus, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Marden-Walker Syndrome
Arachnodactyly, Short neck, Microcephaly, Wide anterior fontanel, Kyphosis, Postnatal growth reta... OMIM:248700
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Narrow greater sciatic notch, Reduced leukocyte beta-glucuronidase ac... OMIM:253220
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossificati... OMIM:210710
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Pontocerebell... OMIM:618060
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Sei... OMIM:612736
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis, Frequent falls OMIM:300718
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, Wormi... OMIM:259440
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Achondrogenesis Type 1A
Short palm, Multiple rib fractures, Severe short stature, Micromelia, Short neck, Micrognathia, S... ORPHA:93299
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Frequent falls, Lumbar hyperlordosis, Scoliosis, Abnormal macrophage morphology ORPHA:353
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Short stature, Metatarsus valgus, Aplasia/Hypoplasia of toe... ORPHA:3082
New-Onset Refractory Status Epilepticus
Cerebellar edema, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with ... ORPHA:363558
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Holt-Oram Syndrome
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Pa... ORPHA:392
Myopathic Ehlers-Danlos Syndrome
Shoulder flexion contracture, Kyphoscoliosis, Tapered finger, Hyperlordosis, Kyphosis, Ankle flex... ORPHA:536516
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Micrognathia, Hypoplastic pubic bone, Flared metaphysis, Short lon... ORPHA:93346
Achondrogenesis, Type Ib
Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Absent or minimally ossified vertebral bodi... OMIM:600972
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Ataxia, Kyphosis, Seizure, Scoliosis OMIM:300861
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... ORPHA:175
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Short stature, Camptodactyly of finger, Short neck, Micrognathia, Kyphosis, Short... ORPHA:3409
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Short sta... OMIM:616229
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Severe short stature, Microcephaly, Kyphosis, Abnormality of the elbow, Hip di... ORPHA:1005
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Short neck, Hypopla... ORPHA:93333
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Seizure, Dystonia OMIM:612126
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar vermis hypoplasia, Short neck, Tremor, Prominent protruding coccyx, Chronic otitis med... OMIM:300966
Kleefstra Syndrome 2
Microcephaly, Kyphosis, Growth delay, Seizure, Scoliosis OMIM:617768
Dysostosis, Stanescu Type
Bowing of the long bones, Persistent open anterior fontanelle, Short stature, Wormian bones, Micr... ORPHA:1798
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphocytosis, He... OMIM:308240
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Portal hyperte... ORPHA:1454
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Short stature, Hyperlordosis, Kyphosis, Short toe, Brachydactyly ORPHA:3085
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Parkinson Disease 2, Autosomal Recessive Juvenile
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:600116
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Dystonia, Ataxia, Bone-marrow foam cells, Low chole... OMIM:257220
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Short neck, Microgn... OMIM:224400
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dystonia, Short stature, Ataxia, Postural tremor, Tremor, Babinski sign, Dysm... OMIM:607694
Rett Syndrome
Dystonia, Short stature, Kyphosis, Gait apraxia, Gait ataxia, Short foot, Seizure, Secondary micr... OMIM:312750
Alpha-Methylacyl-Coa Racemase Deficiency