Gene Summary

Name:
kinesin family member 1B
Synonyms:
D4Mil1e,  Kif1b alpha,  KIF1Bp204,  Kif1b beta,  N-3 kinesin,  A530096N05Rik,  KIF1Bp130

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
increased startle reflex Kif1btm1b(KOMP)Wtsi HET Early adult 2.79×10-05
preweaning lethality, complete penetrance Kif1btm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal head shape Kif1btm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal outer ear morphology Kif1btm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal facial morphology Kif1btm1b(KOMP)Wtsi HOM E18.5 0.00
hyperactivity Kif1btm1b(KOMP)Wtsi HET Early adult 3.65×10-10
increased circulating chloride level Kif1btm1b(KOMP)Wtsi HET Early adult 9.32×10-07
abnormal embryo size Kif1btm1b(KOMP)Wtsi HOM E18.5 0.00
decreased exploration in new environment Kif1btm1b(KOMP)Wtsi HET   Early adult 2.30×10-05
increased mean corpuscular hemoglobin concentration Kif1btm1b(KOMP)Wtsi HET Early adult 7.37×10-05
increased vertical activity Kif1btm1b(KOMP)Wtsi HET Early adult 1.77×10-05
unresponsive to tactile stimuli Kif1btm1b(KOMP)Wtsi HOM E18.5 0.00
decreased thigmotaxis Kif1btm1b(KOMP)Wtsi HET   Early adult 6.23×10-05
abnormal limb morphology Kif1btm1b(KOMP)Wtsi HOM E18.5 0.00
hemorrhage Kif1btm1b(KOMP)Wtsi HOM E18.5 0.00
decreased blood urea nitrogen level Kif1btm1b(KOMP)Wtsi HET Early adult 2.53×10-05
increased circulating sodium level Kif1btm1b(KOMP)Wtsi HET Early adult 2.23×10-09

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 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Peyer's patch  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Axial skeleton N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Dorsal root ganglion N/A heterozygote 50% (1 of 2)
N/A Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 50% (1 of 2)
N/A Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Notochord N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote Ambiguous
Rib pre-cartilage condensation N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Skeleton N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 50% (1 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous
Thoracic vertebral cartilage condensation N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Vibrissa N/A heterozygote 100% (1 of 1)
N/A Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.72% (4 of 555)
aorta 0.18% (1 of 541)
brain 0.92% (5 of 545)
brainstem 0.37% (2 of 543)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 546)
cerebellum 0.37% (2 of 545)
cerebral cortex 0.37% (2 of 535)
epididymis 12.78% (17 of 133)
esophagus 1.8% (7 of 388)
eye 0.0%
heart 0.37% (2 of 535)
hippocampus 0.55% (3 of 545)
hypothalamus 0.36% (2 of 549)
kidney 4.61% (25 of 542)
large intestine 5.24% (28 of 534)
liver 0.0%
lower urinary tract 0.19% (1 of 539)
lung 0.37% (2 of 546)
lymph node 0.19% (1 of 540)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.37% (2 of 543)
ovary 0.18% (1 of 545)
oviduct 0.0%
pancreas 0.73% (4 of 546)
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 544)
prostate gland 2.15% (12 of 558)
skeletal muscle 0.0%
skin 0.18% (1 of 557)
small intestine 5.37% (29 of 540)
spinal cord 0.37% (2 of 538)
spleen 0.37% (2 of 538)
stomach 3.51% (19 of 542)
striatum 0.56% (3 of 540)
submandibular gland 1.46% (2 of 137)
testis 1.09% (6 of 552)
thalamus 0.0%
thymus 0.19% (1 of 537)
thyroid gland 3.37% (18 of 534)
trachea 0.56% (3 of 532)
urinary bladder 0.0%
uterus 0.37% (2 of 535)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 2.38% (1 of 42)
brain 1.74% (6 of 344)
central nervous system ganglion 2.17% (1 of 46)
dorsal root ganglion 0.0%
ear 0.29% (1 of 341)
embryo 0.28% (1 of 353)
eye 0.0%
footplate 0.28% (1 of 358)
forebrain 0.29% (1 of 347)
forelimb 0.27% (1 of 376)
fronto-nasal process 2.13% (1 of 47)
handplate 0.29% (1 of 348)
head 1.12% (4 of 357)
heart 0.27% (1 of 366)
hindbrain 0.57% (2 of 348)
hindlimb 0.29% (1 of 341)
liver 0.3% (1 of 338)
lung 0.29% (1 of 342)
mandibular process 0.29% (1 of 343)
maxillary process 0.29% (1 of 347)
midbrain 0.28% (1 of 354)
nose 1.89% (1 of 53)
notochord 2.38% (1 of 42)
oral cavity 0.0%
rib pre-cartilage condensation 2.44% (1 of 41)
skeleton 1.79% (1 of 56)
skin 0.29% (1 of 348)
spinal cord 0.0%
tail 0.28% (1 of 354)
tail somite group 0.3% (1 of 337)
thoracic vertebral cartilage condensation 2.44% (1 of 41)
vibrissa 0.0%

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

12 Images

Adult LacZ

LacZ Images Section

45 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Embryo LacZ

LacZ images wholemount

20 Images

X-ray

XRay Images Forepaw

12 Images

MicroCT E18.5

Embryo reconstruction

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Combined SHIRPA and Dysmorphology

Images

4 Images

Gross Morphology Embryo E18.5

Images

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Kif1b 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 Kif1b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Distal muscle weakness, Distal sensory impairment, Foot dorsiflexor weakness, Limb muscle weaknes... OMIM:118210
Hereditary Pheochromocytoma-Paraganglioma
Episodic paroxysmal anxiety, Tremor, Panic attack, Hypercalcemia ORPHA:29072
Neuroblastoma, Susceptibility To, 1
Spinal cord compression OMIM:256700
Pheochromocytoma
Hypercalcemia OMIM:171300

The table below shows human diseases predicted to be associated to Kif1b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Episodic Ataxia, Type 7
Muscle weakness, Episodic ataxia OMIM:611907
Hyperlysinemia, Type I
Anemia, Hyperlysinemia, Hyperactivity, Cognitive impairment OMIM:238700
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Attention def... ORPHA:280397
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Progressive proximal muscle weakness, Limb-girdle muscle weakness, Foot dorsiflexor weakness, Ank... ORPHA:98912
Distal Anoctaminopathy
Progressive muscle weakness, Proximal muscle weakness in upper limbs, Distal lower limb muscle we... ORPHA:399096
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, Progressive proximal muscle weakness, Limb-girdle muscle weakness, Foot dorsifle... ORPHA:399058
Multifocal Motor Neuropathy
Progressive muscle weakness, Limb muscle weakness, Progressive distal muscle weakness ORPHA:641
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Distal Myopathy With Anterior Tibial Onset
Limb-girdle muscle weakness, Tibialis muscle weakness, Progressive proximal muscle weakness ORPHA:178400
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology, Scoliosis, Respiratory insufficiency due to muscle weakne... OMIM:611067
Desminopathy
Neck flexor weakness, Progressive muscle weakness, Axial muscle weakness, Fatigable weakness of b... ORPHA:98909
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Lumbar hyperlordosis, Atlantoaxial dislocation, Os odontoideum, Spondylolysis, Atlantoaxial insta... OMIM:600561
Myopathy, Myofibrillar, 4
Progressive muscle weakness, Progressive distal muscle weakness, Progressive proximal muscle weak... OMIM:609452
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Paucity of anterior horn motor neurons, Short neck, Scoliosis, Neonatal death, Abnormal... OMIM:611890
Posttransplant Acute Limbic Encephalitis
Ataxia, Cognitive impairment, Depression, Anxiety, Memory impairment, Hyponatremia, Dystonia ORPHA:163921
Myopathy And Diabetes Mellitus
Progressive cerebellar ataxia, Progressive proximal muscle weakness, Impaired vibratory sensation... ORPHA:2596
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Laing Early-Onset Distal Myopathy
Proximal muscle weakness in lower limbs, Distal muscle weakness, Weakness of orbicularis oculi mu... ORPHA:59135
Myopathy, Scapulohumeroperoneal
Foot dorsiflexor weakness, Neck flexor weakness, Progressive muscle weakness, Wrist drop, Facial ... OMIM:616852
Finnish Upper Limb-Onset Distal Myopathy
Progressive distal muscle weakness, Distal sensory impairment, Progressive proximal muscle weakness ORPHA:399086
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Muscle weakness OMIM:614885
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Axial muscle weakness, Progressive external ophthalmoplegia, Respiratory insufficiency due to mus... ORPHA:663
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Arts Syndrome
Progressive muscle weakness, Ataxia OMIM:301835
Rigid Spine Syndrome
Spinal rigidity, Respiratory insufficiency, Scoliosis, Hyperlordosis, Abnormality on pulmonary fu... ORPHA:97244
Myosclerosis, Autosomal Recessive
Thoracolumbar scoliosis, Lumbar hyperlordosis, Spinal rigidity, Reduced forced vital capacity OMIM:255600
Distal Nebulin Myopathy
Progressive distal muscle weakness, Neck flexor weakness, Foot dorsiflexor weakness, Progressive ... ORPHA:399103
Oculopharyngodistal Myopathy
Distal upper limb muscle weakness, Progressive proximal muscle weakness, Progressive external oph... ORPHA:98897
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Short neck, Scoliosis, Hyperlordosis, Respiratory insufficiency due to... OMIM:300718
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Hyperlor... ORPHA:40
Amish Nemaline Myopathy
Progressive muscle weakness, Respiratory insufficiency due to muscle weakness ORPHA:98902
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Scoliosis, Abnormal lower motor neuron morphology, Tremor, Recurrent aspiration pneumonia, Respir... ORPHA:2590
Porphyria Due To Ala Dehydratase Deficiency
Apathy, Abnormal fear/anxiety-related behavior, Depression, Increased erythrocyte protoporphyrin ... ORPHA:100924
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Irritability OMIM:125800
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Irritability OMIM:304800
Distal Myotilinopathy
Progressive distal muscle weakness, Progressive proximal muscle weakness ORPHA:98911
Duchenne Muscular Dystrophy
Progressive muscle weakness, Proximal muscle weakness ORPHA:98896
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Difficulty walking, Attention defic... OMIM:619191
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Respiratory insufficiency, Scoliosis, Spinal rigidity, Hyperlordosis OMIM:617404
Spinocerebellar Ataxia, Autosomal Recessive 23
Ataxia, Hyponatremia, Neutropenia OMIM:616949
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Oculogyric crisis, Anxiety, Elevated circulating crea... ORPHA:94093
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Sensory ataxia, Progressive external ophthalmoplegia, Progressive muscle weakness, Limb muscle we... OMIM:609286
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Reduced vital capacity, Hyperlordosis OMIM:617760
Spinocerebellar Ataxia 14
Progressive cerebellar ataxia, Dysmetria, Depression, Mental deterioration, Memory impairment, Ga... OMIM:605361
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Pyruvate Carboxylase Deficiency
Apathy, Hyperlysinemia, Ataxia, Tip-toe gait, Hyperammonemia, Increased serum pyruvate, Hyperprol... ORPHA:3008
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Reduced vital capacity, Hyperlordosis OMIM:607088
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Hypoplasia of the pons, Death in infancy, Hypoplasia of the brainstem OMIM:225753
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity, Mental deterioration, Hypertriglyceridemia, Tremor, Dystonia OMIM:615924
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Progressive proximal muscle weakness, Distal muscle weakness, Ophthalmoparesis, Progressive exter... ORPHA:254875
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness OMIM:619024
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Death in childhood, Respiratory failure OMIM:253300
Dystonia With Ringbinden
Dystonia, Hyperlordosis OMIM:224550
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Myopathy, Congenital, With Tremor
Lumbar hyperlordosis, Spinal rigidity, Tongue tremor, Scoliosis, Postural tremor OMIM:618524
Spinal Muscular Atrophy, Infantile, James Type
Respiratory insufficiency, Lumbar hyperlordosis, Scoliosis OMIM:619042
Glycine Encephalopathy
Impulsivity, Hyperactivity, Hyperglycinemia, Aggressive behavior, Irritability OMIM:605899
Masa Syndrome
Kyphosis, Agenesis of corpus callosum, Hyperlordosis OMIM:303350
Amyotrophic Lateral Sclerosis 8
Progressive muscle weakness, Distal muscle weakness, Proximal muscle weakness OMIM:608627
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Hyperactivity, Tremor, Transient hyperphenylalaninemia, Choreoathetosis, Aggressive behav... OMIM:612716
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Scoliosis, Thoracic kyphosis,... OMIM:609223
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Tremor, Dyspnea,... ORPHA:90117
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis, Dystonia OMIM:619966
Infantile Refsum Disease
Progressive muscle weakness, Facial palsy, Ataxia ORPHA:772
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Atrophy/Degeneration affecting the brainstem, Death in infancy, Respiratory failure, Dystonia OMIM:616277
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Progressive proximal muscle weakness, Pelvic girdle muscle weakness, Limb muscle weakness, Proxim... OMIM:167320
Marinesco-Sjogren Syndrome
Progressive muscle weakness, Ataxia, Gait ataxia, Limb ataxia OMIM:248800
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine, Irritability OMIM:300539
Immunoneurologic Disorder, X-Linked
Progressive proximal muscle weakness OMIM:300076
Achondroplasia
Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis... OMIM:100800
Myasthenic Syndrome, Congenital, 5
Respiratory insufficiency, Scoliosis, Respiratory insufficiency due to muscle weakness, Hyperlord... OMIM:603034
Central Diabetes Insipidus
Depression, Anxiety, Hyponatremia ORPHA:178029
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Increased intervertebral space, Horizontal sacrum, Respiratory insufficienc... OMIM:256050
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Gowers sign, Progressive proximal muscle weakness, Limb-girdle muscle weakness, Pelvic girdle mus... ORPHA:254361
Ataxia-Telangiectasia-Like Disorder 2
Progressive muscle weakness, Ataxia, Muscle weakness OMIM:615919
Phenylketonuria
Hyperactivity, Self-mutilation, Depression, Anxiety, Maternal hyperphenylalaninemia, Hyperphenyla... OMIM:261600
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Scoliosis, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal... ORPHA:266
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Depression, Anxiety, Hyponatremia, Thrombocytopenia ORPHA:83601
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Gowers sign, Ophthalmoparesis, Progressive muscle weakness, Facial palsy, Ophtha... ORPHA:169186
Congenital Muscular Dystrophy With Intellectual Disability
Abnormal pons morphology, Respiratory insufficiency, Scoliosis, Neuropathic spinal arthropathy, D... ORPHA:370968
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Respiratory insufficiency, Platyspondyly, Thoracolumbar scoliosis, Respiratory failure OMIM:313420
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Progressive muscle weakness, Respiratory insufficiency due to muscle weakness OMIM:613561
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Ataxia, Hypoproteinemia, Increased LDL cholesterol ... OMIM:267700
Congenital Muscular Dystrophy Due To Lmna Mutation
Spinal rigidity, Respiratory insufficiency, Death in infancy, Hyperlordosis ORPHA:157973
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Tremor, ... ORPHA:3077
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior OMIM:604317
Motor Neuropathy, Peripheral, With Dysautonomia
Progressive muscle weakness OMIM:252320
Non-Syndromic Bicoronal Craniosynostosis
Brachydactyly, Metacarpal synostosis, Hearing impairment, Brachycephaly, Midface retrusion ORPHA:35099
Nemaline Myopathy 5
Progressive muscle weakness OMIM:605355
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior OMIM:619970
Myasthenic Syndrome, Congenital, 16
Apnea, Hyperlordosis OMIM:614198
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Respiratory failure OMIM:613435
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Progressive external ophthalmoplegia, Progressive muscle weakness, Impaired distal vibration sens... OMIM:157640
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Respiratory insufficiency, Abnormality of the vertebral column, Respiratory ... OMIM:276950
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis, Restrictive ventilatory defect, Obstructive sleep apnea OMIM:615290
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Scoliosis, Restrictive ventilatory defect, Respi... OMIM:614399
Congenital Bowing Of Long Bones
Hyperlordosis ORPHA:2292
Dna2-Related Mitochondrial Dna Deletion Syndrome
Exertional dyspnea, Obstructive sleep apnea, Hyperlordosis ORPHA:352470
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Short neck, Respiratory failure ORPHA:1832
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Depression, Gait ataxia, ... ORPHA:248111
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis, Dystonia OMIM:616756
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure OMIM:616081
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Respiratory insufficiency, Dystonia, Abnormal brainstem MRI signal intensity ORPHA:263410
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Dysmetria, Gait disturbance, Tremor OMIM:618090
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Tremor, Hyperactivity, Aggressive behavior OMIM:619470
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Hyperlordosis OMIM:618129
Nemaline Myopathy 3
Spinal rigidity, Respiratory insufficiency, Scoliosis, Hyperlordosis, Respiratory insufficiency d... OMIM:161800
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Spinal rigidity OMIM:604801
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior OMIM:309548
3-Methylglutaconic Aciduria, Type Viii
Apnea, Tremor, Death in infancy, Respiratory failure, Dystonia OMIM:617248
Diastrophic Dysplasia
Kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Spinal cord compression, Cervical kyphosis, Hypo... OMIM:222600
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory insufficiency, Respiratory failure OMIM:613869
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Lumbar hyperlordosis, Scoliosis OMIM:602484
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Apnea, Abnormal brainstem morphology ORPHA:99852
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Hyperactivity, Aggressive behavior OMIM:300983
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Frontal bossing, Plagiocephaly, Brachycephaly OMIM:300064
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior ORPHA:100973
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Isolated Glycerol Kinase Deficiency
Scoliosis, Hyperlordosis ORPHA:408
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Broad phalanx, Brachycephaly, Trigonocephaly, Broad metatarsal OMIM:275595
Myasthenic Syndrome, Congenital, 14
Scoliosis, Hyperlordosis OMIM:616228
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior, Dystonia ORPHA:382
Lennox-Gastaut Syndrome
Hyperactivity, Mental deterioration, Falls, Aggressive behavior, Personality disorder ORPHA:2382
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Impulsivity, Hyperactivity OMIM:617113
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Respiratory failure OMIM:618637
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Truncal ataxia, Chorea, Progressive proximal muscle weakness ORPHA:369847
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Irregular vertebral endplates, Kyphoscoliosis, Scoliosis, Hyperlordosis, Abnormal vertebral morph... OMIM:618363
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Familial Anetoderma
Lumbar hyperlordosis ORPHA:228277
Landau-Kleffner Syndrome
Social and occupational deterioration, Impulsivity, Hyperactivity, Depression, Anxiety, Memory im... ORPHA:98818
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Lumbar hyperlordosis OMIM:253320
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Nemaline Myopathy 7
Kyphoscoliosis, Lumbar hyperlordosis, Respiratory insufficiency due to muscle weakness OMIM:610687
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis ORPHA:2501
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Ataxia, Hypoproteinemia, Hemophagocytosis, Splenome... OMIM:603553
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis ORPHA:2310
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Ataxia, Hyponatremia OMIM:618426
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hypochondroplasia
Spinal canal stenosis, Sleep apnea, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:429
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Progressive muscle weakness OMIM:600462
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis ORPHA:280333
Bethlem Myopathy
Gowers sign, Progressive proximal muscle weakness, Distal muscle weakness, Quadriceps muscle weak... ORPHA:610
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Kyphosis, Spinal rigidity, Short neck, Scoliosis, Respiratory failure ORPHA:75840
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Hyperekplexia 4
Kyphoscoliosis, Respiratory failure OMIM:618011
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Neonatal respiratory distress, Respiratory failure, Agenesis of corpu... ORPHA:168486
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Cognitive impairment, Hemolytic anemia, Microcytic anemia, Ane... ORPHA:846
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th... ORPHA:848
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure OMIM:613954
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Nemaline Myopathy 2
Apnea, Spinal rigidity, Scoliosis, Hyperlordosis, Respiratory insufficiency due to muscle weakness OMIM:256030
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hyperlordosis ORPHA:363454
Hypochondroplasia
Lumbar hyperlordosis OMIM:146000
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:605711
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Progressive muscle weakness, Facial palsy, Limb muscle weakness, Progressive external ophthalmopl... OMIM:610131
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Flat occiput, Plagiocephaly, Brachycephaly, Bradycardia ORPHA:2898
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Coffin-Siris Syndrome 8
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:618362
Metatropic Dysplasia
Kyphosis, Kyphoscoliosis, Relatively short spine, Respiratory insufficiency, Platyspondyly, Scoli... OMIM:156530
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Hyperactivity, Self-biting OMIM:618314
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Anxiety, Elevated circulating gamma-aminobutyric ... OMIM:271980
Chromosome 3Q29 Deletion Syndrome
Anxiety, Hyperactivity, Aggressive behavior, Gait ataxia OMIM:609425
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Thrombocytopenia OMIM:613845
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:228940
Mucolipidosis Type Iii
Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:577
Dk1-Cdg
Progressive muscle weakness ORPHA:91131
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Kyphosis, Blepharospasm, Scoliosis, Hyperlordosis, Tremor, W... OMIM:128100
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Weakness of muscles of respiration, Abnormal motor neuron morpholo... ORPHA:52430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Scoliosis, Hyperlordosis, Restrictive ventilatory defect, Vertebral fusion OMIM:606612
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Inappropriate behavior, Memory impairment, Self-biting, N... OMIM:619827
Coenzyme Q10 Deficiency, Primary, 1
Progressive muscle weakness, Ataxia OMIM:607426
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress OMIM:619057
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Thoracic scoliosis, Hyperlordosis ORPHA:62
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Self-injurious behavior, Tremor, Paroxysmal bursts of laughter OMIM:618718
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Spinal rigidity, Neuropathic spinal arthropathy, Dyspnea, Respiratory failure, Respirat... ORPHA:352447
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Hearing impairment, Brachycephaly, Thickened calvaria, Craniosynostosis ORPHA:178377
Leigh Syndrome
Focal substantia nigra T2 hyperintensity, Respiratory insufficiency, Abnormal pattern of respirat... OMIM:256000
Anauxetic Dysplasia 2
Short neck, Cervical spine instability, Thoracolumbar kyphoscoliosis, Hyperlordosis, Ovoid verteb... OMIM:617396
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Myopathy, Congenital, With Fiber-Type Disproportion
Lumbar hyperlordosis, Respiratory insufficiency, Scoliosis, Reduced forced vital capacity, Respir... OMIM:255310
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:614299
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Scoliosis, Spina bifida occulta, Hyperlordosis, Abnorm... ORPHA:1797
Mucopolysaccharidosis, Type Iva
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Scoliosis, Hyperlordos... OMIM:253000
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Anxiety, Falls, Difficulty walking, Emotional lability ORPHA:3198
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Increased vertebral height, Kyphoscoliosis, Hyperlordosis, Kinetic tremor, Abnormal vertebral mor... OMIM:616817
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Respiratory insufficiency, Death in childhood, Neonatal death, Death in infancy, Neonatal respira... OMIM:245400
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:614373
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Scoliosis, Abnormality of the anterior commissure, Midline brainstem clef... OMIM:617542
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Scoliosis, Thoracic kyphoscoliosis, Orthopnea, Restrictive ventilatory de... ORPHA:98913
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Kyphosis, Respiratory insufficiency, Scoliosis, Hyperlordosis, Stridor OMIM:181405
Spinocerebellar Ataxia Type 1
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology, Postural tremor, Res... ORPHA:98755
Hyperkalemic Periodic Paralysis
Hypokalemia, Elevated circulating creatine kinase concentration, Gait disturbance, Hyponatremia, ... ORPHA:682
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Neuromyelitis Optica Spectrum Disorder
Myelitis, Respiratory failure ORPHA:71211
Cln5 Disease
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Mental deterioration, Dysdiadochokinesis, An... ORPHA:228360
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Progressive muscle weakness OMIM:619518
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:613090
Asbestos Intoxication
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Wheezing... ORPHA:2302
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Thoracic kyphosis, Lumbar hyperlordosis ORPHA:206546
Arthrogryposis Multiplex Congenita 6
Death in childhood, Respiratory failure, Neonatal death, Death in infancy OMIM:619334
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Respiratory insufficiency due to muscle weakness, Hyperlordosis OMIM:255200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Respiratory insufficiency, Scoliosis, Hyperlordosis OMIM:613156
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Scoliosis, Reduced forced vital capacity, Hyperlordosis, Restrictive ventilatory defect... OMIM:607155
Cebalid Syndrome
Plagiocephaly, Abnormal pinna morphology, Platystencephaly, Dolichocephaly, Hearing impairment, P... OMIM:618774
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Lumbar hyperlordosis, Spinal rigidity OMIM:609308
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Ataxia, Inability to walk, Hemophagocytosis, Increa... ORPHA:167
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Degeneration of anterior horn cells, Tachypnea, Inspiratory stridor, Ventilator dependence with i... OMIM:604320
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Short neck, Hyperlordosis, Fused cervical vertebrae, Spinal cord compression ORPHA:2522
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Self-injurious behavior, Depression, Anxiety, Aggressive behavior OMIM:619467
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Motor neuron atrophy, Abnormal respiratory system physiology, Resp... ORPHA:803
Acrocapitofemoral Dysplasia
Scoliosis, Ovoid vertebral bodies, Hyperlordosis ORPHA:63446
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Craniosynostosis, Arachnodactyly, Oligodactyly, Humeroradial synostosis, Brachycephaly, Occipital... OMIM:614416
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Scoliosis, Cough, Dyspnea ORPHA:86812
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Scoliosis, Sacral dimple, Hyperlordosis OMIM:615761
Muscular Dystrophy, Duchenne Type
Scoliosis, Hyperlordosis, Restrictive ventilatory defect, Hypoventilation, Respiratory failure, R... OMIM:310200
Pneumocystosis
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... ORPHA:723
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Intention tremor, Abnormal motor neuron morphology, Head tremor OMIM:613724
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Bipolar affective disorder OMIM:619927
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Lumbar hyperlo... ORPHA:99642
Wieacker-Wolff Syndrome
Kyphosis, Apnea, Short neck, Scoliosis, Hyperlordosis, Neonatal respiratory distress, Dystonia OMIM:314580
Joubert Syndrome 7
Episodic tachypnea, Scoliosis, Tachypnea, Central apnea, Neonatal breathing dysregulation, Molar ... OMIM:611560
Craniosynostosis 2
Craniosynostosis, Brachyturricephaly, Brachydactyly, Frontal bossing, Triphalangeal thumb, Bicoro... OMIM:604757
Avian Influenza
Respiratory distress, Miscarriage, Nonproductive cough, Myelitis, Tachypnea, Cough, Pneumothorax,... ORPHA:454836
Congenital Fiber-Type Disproportion Myopathy
Poor head control, Weakness of muscles of respiration, Pelvic girdle muscle weakness, Foot dorsif... ORPHA:2020
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentration, Unconju... ORPHA:90038
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Tongue-like lumbar vertebral deformities, Platyspondyly, Short neck, Scolio... OMIM:264180
Autosomal Recessive Non-Syndromic Intellectual Disability
Depression, Hyperactivity, Impulsivity, Dystonia ORPHA:88616
Alg8-Cdg
Anemia, Ataxia, Thrombocytopenia, Hyponatremia ORPHA:79325
Crisponi/Cold-Induced Sweating Syndrome 2
Thoracolumbar scoliosis, Lumbar hyperlordosis OMIM:610313
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Brachycephaly, Microtia, Craniosynostosis, Micromelia, Brachydacty... ORPHA:2145
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Cough, Tachypnea OMIM:263000
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... OMIM:608647
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia, Difficulty walking, Hy... ORPHA:1667
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Spinal rigidity, Hyperlordosis ORPHA:267
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Hyperlordosis ORPHA:1192
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Distal muscle weakness, Distal sensory impairment, Foot dorsiflexor weakness, Limb muscle weaknes... OMIM:118210
Myopathy, Distal, 1
Lumbar hyperlordosis, Scoliosis OMIM:160500
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dyspnea, Pulmo... OMIM:265120
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Mucopolysaccharidosis, Type Ivb
Kyphosis, Platyspondyly, Scoliosis, Hyperlordosis, Ovoid vertebral bodies, Cervical subluxation, ... OMIM:253010
Jansen-De Vries Syndrome
Hyperlordosis OMIM:617450
Humeroradial Synostosis With Craniofacial Anomalies
Carpal synostosis, Plagiocephaly, Microtia, Small earlobe, Frontal bossing, Tarsal synostosis, Hu... OMIM:236410
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Happy demeanor, Ataxia, Hyperactivity, Inappropriate laughter ORPHA:411515
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Obstructive sleep apnea, Central sleep apnea, Generalized dystonia ORPHA:70472
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... ORPHA:309246
Herpes Simplex Virus Encephalitis
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Hyponatremia ORPHA:1930
Mucolipidosis Iii Gamma
Kyphosis, Short neck, Scoliosis, Hyperlordosis OMIM:252605
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hyperlordosis OMIM:611588
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:602522
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior OMIM:301013
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Scoliosis, Respiratory failure, Small cervical vertebral bodies, Progr... OMIM:135100
Porphyria Variegata
Abnormal circulating porphyrin concentration, Anemia, Anxiety, Hyponatremia ORPHA:79473
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Hypoxemia, Neonatal death, Tachypnea, Cough, Death in infancy, Neona... OMIM:610921
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, C... OMIM:184100
Whipple Disease
Ataxia, Splenomegaly, Depression, Hyponatremia, Anemia ORPHA:3452
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, Impulsivity, Gait ataxia, Aggressive behavior, Dystonia ORPHA:500180
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Abnormal brainstem morphology ORPHA:255182
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Impulsivity, Aggressive behavior ORPHA:101039
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Hemivertebrae, Abnormal form of the vertebral bodies, Dyspnea, Respiratory ... ORPHA:2759
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Self-mutilation OMIM:615516
Ck Syndrome
Kyphoscoliosis, Lumbar hyperlordosis ORPHA:251383
Oculocerebrodental Syndrome
Thoracic kyphosis, Dysplastic corpus callosum, Scoliosis, Hyperlordosis ORPHA:557003
Alg1-Cdg
Kyphosis, Scoliosis, Respiratory failure ORPHA:79327
Cholera
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia, Irritability ORPHA:173
Typical Nemaline Myopathy
Kyphosis, Spinal rigidity, Respiratory insufficiency, Short neck, Scoliosis, Hyperlordosis, Noctu... ORPHA:171436
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Muenke Syndrome
Sensorineural hearing impairment, Plagiocephaly, Cone-shaped epiphyses of the phalanges of the ha... OMIM:602849
Rasmussen Subacute Encephalitis
Inability to walk, Hyperactivity, Hemidystonia, Cognitive impairment, Memory impairment, Attentio... ORPHA:1929
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Progressive muscle weakness, Limb-girdle muscle weakness, Muscle weakness ORPHA:370
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Emotional lability,... ORPHA:89938
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... OMIM:619381
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Abnormal blood ion con... ORPHA:31824
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hyperactivity, Progressive psychomotor deterioration, Cognitive impairment, Hypertriglyce... ORPHA:363400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis OMIM:613723
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure OMIM:615330
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Progressive cerebellar ataxia, Hyperactivity, Depression, Anxiety, Aggre... ORPHA:485350
Snakebite Envenomation
Thrombocytopenia, Hyponatremia ORPHA:449285
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis OMIM:613818
Spondyloepiphyseal Dysplasia Congenita
Laryngotracheomalacia, Kyphosis, Lumbar hyperlordosis, Back pain, Spinal rigidity, Abnormally oss... ORPHA:94068
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Progressive muscle weakness, Limb-girdle muscle weakness, Pelvic girdle muscle weakness ORPHA:79240
Central Hypoventilation Syndrome, Congenital, 3
Central hypoventilation, Apnea, Respiratory failure OMIM:619483
Hereditary Motor And Sensory Neuropathy, Type Iic
Scoliosis, Respiratory failure, Intercostal muscle weakness, Stridor, Obstructive sleep apnea OMIM:606071
Congenital Muscular Dystrophy With Cerebellar Involvement
Lumbar hyperlordosis, Hypoplasia of the pons, Abnormal brainstem morphology, Olivopontocerebellar... ORPHA:370959
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Reduced for... OMIM:610913
Acute Intermittent Porphyria
Depression, Mental deterioration, Anxiety, Memory impairment, Tremor, Hyponatremia ORPHA:79276
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Scoliosis, Pneumonia, Hyperlordosis OMIM:253700
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Kyphosis, Lumbar hyperlordosis, Atlantoaxial instability, Platyspondyly, Sh... OMIM:183900
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Scoliosis, Hyperlordosis, C1-C2 subluxation, Hypoplasia of the odontoid process OMIM:184250
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology ORPHA:1532
Duchenne And Becker Muscular Dystrophy
Scoliosis, Hyperlordosis ORPHA:262
Three M Syndrome 1
Increased vertebral height, Short neck, Spina bifida occulta, Hyperlordosis, Neonatal respiratory... OMIM:273750
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Intention tremor, Tremor, Scoliosis, Respiratory failure OMIM:616505
Encephalopathy, Progressive, Early-Onset, Wit