Gene: Kif1b MGI:108426

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Gene Summary

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

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 circulating chloride level Kif1btm1b(KOMP)Wtsi HET Early adult 4.19×10-05
hemorrhage Kif1btm1b(KOMP)Wtsi HOM E18.5 0.00
increased vertical activity Kif1btm1b(KOMP)Wtsi HET Early adult 1.68×10-05
increased startle reflex Kif1btm1b(KOMP)Wtsi HET Early adult 2.69×10-05
abnormal head shape Kif1btm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal embryo size Kif1btm1b(KOMP)Wtsi HOM E18.5 0.00
preweaning lethality, complete penetrance Kif1btm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal facial morphology Kif1btm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal outer ear morphology Kif1btm1b(KOMP)Wtsi HOM E18.5 0.00
hyperactivity Kif1btm1b(KOMP)Wtsi HET Early adult 3.36×10-10
increased circulating sodium level Kif1btm1b(KOMP)Wtsi HET Early adult 2.77×10-09
decreased thigmotaxis Kif1btm1b(KOMP)Wtsi HET   Early adult 4.23×10-05
unresponsive to tactile stimuli Kif1btm1b(KOMP)Wtsi HOM E18.5 0.00
decreased blood urea nitrogen level Kif1btm1b(KOMP)Wtsi HET Early adult 1.79×10-05
abnormal limb morphology Kif1btm1b(KOMP)Wtsi HOM E18.5 0.00
increased mean corpuscular hemoglobin concentration Kif1btm1b(KOMP)Wtsi HET Early adult 7.19×10-05
decreased exploration in new environment Kif1btm1b(KOMP)Wtsi HET   Early adult 8.52×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (1 of 1)
N/A Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (1 of 1)
N/A Ambiguous
N/A heterozygote 50% (1 of 2)
N/A Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 50% (1 of 2)
N/A Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 50% (1 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 100% (1 of 1)
N/A Ambiguous
N/A heterozygote 50% (1 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (1 of 1)
N/A Ambiguous
N/A heterozygote 100% (1 of 1)
N/A Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 50% (1 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (1 of 1)
N/A Ambiguous
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
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 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
notochord 1.69% (1 of 59)
oral cavity 0.2% (1 of 502)
rib pre-cartilage condensation 1.79% (1 of 56)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
thoracic vertebral cartilage condensation 1.85% (1 of 54)
vibrissa 1.37% (1 of 73)

Associated Images

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

Embryo LacZ

LacZ images wholemount

20 Images

Combined SHIRPA and Dysmorphology

Images

4 Images

Adult LacZ

LacZ Images Section

45 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Forepaw

12 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Gross Morphology Embryo E18.5

Images

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Auditory Brain Stem Response

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

1 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, Limb muscle weakness, Foot dorsiflexor weakness, Distal sensory impairment OMIM:118210
Hereditary Pheochromocytoma-Paraganglioma
Episodic paroxysmal anxiety, Panic attack, Tremor, 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
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Progressive muscle weakness, Distal lower limb muscle we... ORPHA:399096
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Wrist drop, Generalized muscle weakness, Proximal muscle weakness in upper limbs, Ankle weakness,... ORPHA:98912
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Alpha-B Crystallin-Related Late-Onset Myopathy
Neck muscle weakness, Facial diplegia, Progressive distal muscle weakness, Respiratory insufficie... ORPHA:399058
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory insufficiency, Cerebral dysmyelination, Respiratory failure, Death in ... OMIM:611722
Multifocal Motor Neuropathy
Progressive distal muscle weakness, Progressive muscle weakness, Limb muscle weakness ORPHA:641
Distal Myopathy With Anterior Tibial Onset
Limb-girdle muscle weakness, Tibialis muscle weakness, Progressive proximal muscle weakness ORPHA:178400
Desminopathy
Fatigable weakness of respiratory muscles, Fatigable weakness of bulbar muscles, Respiratory insu... ORPHA:98909
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scoliosis, Hyperlordosis, Abnormal lower motor neuron morphology, Respiratory insufficiency due t... OMIM:611067
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial instability, Spondylolysis, Os odontoideum, Lumbar hyperlordosis, Respiratory failur... OMIM:600561
Myopathy, Myofibrillar, 4
Progressive distal muscle weakness, Progressive muscle weakness, Progressive proximal muscle weak... OMIM:609452
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Abnormal anterior horn cell morphology, Kyphosis, Cerebral atrophy, Respiratory insuff... OMIM:611890
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Immunodeficiency 8
Lymphopenia, Hyperactivity OMIM:615401
Myopathy, Scapulohumeroperoneal
Wrist drop, Progressive muscle weakness, Facial palsy, Foot dorsiflexor weakness, Neck flexor wea... OMIM:616852
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Myopathy And Diabetes Mellitus
Impaired vibratory sensation, Weakness of orbicularis oculi muscle, Pelvic girdle muscle weakness... ORPHA:2596
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Laing Early-Onset Distal Myopathy
Neck muscle weakness, Weakness of orbicularis oculi muscle, Distal muscle weakness, Proximal musc... ORPHA:59135
Finnish Upper Limb-Onset Distal Myopathy
Progressive distal muscle weakness, Progressive proximal muscle weakness, Distal sensory impairment ORPHA:399086
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Degeneration of anterior horn cells, Respiratory insufficiency, Respiratory fai... OMIM:600333
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Respiratory insufficiency due to muscle weakness, Spinal rigi... OMIM:300718
Peroxisome Biogenesis Disorder 11B
Muscle weakness, Progressive muscle weakness OMIM:614885
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Axial muscle weakness, Progressive proximal muscle weakness, Respiratory insufficiency due to mus... ORPHA:663
Myosclerosis, Autosomal Recessive
Decreased pulmonary function, Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity, Red... OMIM:255600
Central Diabetes Insipidus
Lethargy, Hyponatremia, Anxiety, Depression ORPHA:178029
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Rigid Spine Syndrome
Scoliosis, Abnormality on pulmonary function testing, Hyperlordosis, Pneumonia, Respiratory insuf... ORPHA:97244
Arts Syndrome
Progressive muscle weakness, Ataxia OMIM:301835
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the brainstem, Death in infancy, Respiratory failure, Microcephaly, Hypoplasia of t... OMIM:225753
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Amyotrophic Lateral Sclerosis 8
Distal muscle weakness, Progressive muscle weakness, Proximal muscle weakness OMIM:608627
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Scoliosis, Hyperlordosis, Respiratory insufficiency, Spinal rigidity, Microcephaly OMIM:617404
Distal Nebulin Myopathy
Progressive distal muscle weakness, Progressive proximal muscle weakness, Neck flexor weakness, F... ORPHA:399103
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia, Ataxia OMIM:616949
Oculopharyngodistal Myopathy
Distal upper limb muscle weakness, Fatigable weakness of bulbar muscles, Progressive distal muscl... ORPHA:98897
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Porphyria Due To Ala Dehydratase Deficiency
Depression, Difficulty walking, Apathy, Increased erythrocyte protoporphyrin concentration, Hypon... ORPHA:100924
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... ORPHA:40
Neuroleptic Malignant Syndrome
Hypocalcemia, Tremor, Thrombocytosis, Leukocytosis, Hypernatremia, Hyponatremia, Hyperuricemia, E... ORPHA:94093
Amish Nemaline Myopathy
Progressive muscle weakness, Respiratory insufficiency due to muscle weakness ORPHA:98902
Pyruvate Carboxylase Deficiency
Tremor, Dystonia, Apathy, Hypernatremia, Hypoglutaminemia, Increased level of L-glutamic acid in ... ORPHA:3008
Glycine Encephalopathy
Lethargy, Aggressive behavior, Hyperglycinemia, Impulsivity, Irritability, Hyperactivity OMIM:605899
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Motor deterioration, Falls, Anx... ORPHA:412066
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Hypoplasia of the corpus callosum, Kyphosis, Respiratory insufficiency due to muscle w... OMIM:618291
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Irritability OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Hypernatremia, Irritability OMIM:304800
Distal Myotilinopathy
Progressive distal muscle weakness, Progressive proximal muscle weakness ORPHA:98911
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Mental deterioration, Attention defic... OMIM:619191
Duchenne Muscular Dystrophy
Progressive muscle weakness, Proximal muscle weakness ORPHA:98896
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Sensory ataxia, Progressive external ophthalmoplegia, Proximal muscle weakness, Progressive muscl... OMIM:609286
Congenital Muscular Dystrophy With Intellectual Disability
Scoliosis, Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, R... ORPHA:370968
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Scoliosis, Tremor, Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscl... ORPHA:2590
Achondroplasia
Brain stem compression, Megalencephaly, Lumbar kyphosis in infancy, Lumbar hyperlordosis, Upper a... OMIM:100800
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Hyperlordosis, Reduced vital capacity OMIM:617760
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Scoliosis, Restrictive ventilatory defect, Respiratory distress, Respiratory insufficiency, Respi... OMIM:614399
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Hyperlordosis, Reduced vital capacity OMIM:607088
Masa Syndrome
Hyperlordosis, Microcephaly, Kyphosis, Agenesis of corpus callosum OMIM:303350
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Ataxia, Hypertriglyceridemia, Hyperactivity, Mental deterioration OMIM:615924
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness OMIM:619024
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Muscle weakness, Respiratory insufficiency due to muscle weakness, Progressive external ophthalmo... ORPHA:254875
Hyperlysinemia, Type I
Cognitive impairment, Anemia, Hyperlysinemia, Hyperactivity OMIM:238700
Pontocerebellar Hypoplasia, Type 1C
Hypoplasia of the corpus callosum, Respiratory failure, Cerebral cortical atrophy, Respiratory in... OMIM:616081
Myopathy, Congenital, With Tremor
Scoliosis, Postural tremor, Tongue tremor, Lumbar hyperlordosis, Spinal rigidity OMIM:618524
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Thoracic kyphosis, Irregular vertebral endplates, Lumbar hyperlordosis,... OMIM:609223
Spinal Muscular Atrophy, Infantile, James Type
Scoliosis, Lumbar hyperlordosis, Respiratory insufficiency OMIM:619042
Spinocerebellar Ataxia 14
Gait ataxia, Depression, Progressive cerebellar ataxia, Dysmetria, Focal dystonia, Memory impairm... OMIM:605361
Huntington Disease-Like 2
Dystonia, Dementia, Depression, Apathy, Action tremor, Bradykinesia, Irritability, Anxiety OMIM:606438
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Respiratory failure, ... ORPHA:90117
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Irritability, Decreased serum creatinine OMIM:300539
Infantile Refsum Disease
Progressive muscle weakness, Facial palsy, Ataxia ORPHA:772
Hyperprolinemia, Type I
Hyperprolinemia, Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Marinesco-Sjogren Syndrome
Limb ataxia, Progressive muscle weakness, Gait ataxia, Ataxia OMIM:248800
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Depression, Resting tremor, Bradykinesia, Anxiety OMIM:605909
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Respiratory insuffici... OMIM:603034
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Broad metatarsal, Trigonocephaly, Brachycephaly, Broad phalanx, Prominent metopic ridge OMIM:275595
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormality of the basal ganglia, Abnormal brainste... ORPHA:99852
Atelosteogenesis, Type Ii
Scoliosis, Platyspondyly, Stillbirth, Coronal cleft vertebrae, Death in infancy, Respiratory insu... OMIM:256050
Phenylketonuria
Self-mutilation, Maternal hyperphenylalaninemia, Aggressive behavior, Depression, Hyperphenylalan... OMIM:261600
3-Methylglutaconic Aciduria, Type Viii
Apnea, Tremor, Hypoplasia of the corpus callosum, Cerebral atrophy, Death in infancy, Respiratory... OMIM:617248
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Cerebral atrophy, Respiratory insufficiency, Respiratory failure, Microcephaly OMIM:610127
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Cerebral atrophy, Respiratory failure OMIM:618637
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Degeneration of anterior horn cells, Respiratory insufficiency, Neuronal l... OMIM:607596
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Immunoneurologic Disorder, X-Linked
Progressive proximal muscle weakness OMIM:300076
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Respiratory distress, Respiratory failure, Microcephaly, Short neck ORPHA:1832
Ataxia-Telangiectasia-Like Disorder 2
Muscle weakness, Progressive muscle weakness, Ataxia OMIM:615919
Congenital Muscular Dystrophy Due To Lmna Mutation
Hyperlordosis, Spinal rigidity, Death in infancy, Respiratory insufficiency ORPHA:157973
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Pelvic girdle muscle weakness, Generalized muscle weakness, Gowers sign, Distal lower limb muscle... ORPHA:254361
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Depression, Leukocytosis, Hyponatremia, Thrombocytopenia, Anxiety ORPHA:83601
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Kyphosis, Respiratory insufficiency, Thoracolumbar scoliosis, Respiratory failure OMIM:313420
Isolated Brachycephaly
Midface retrusion, Metacarpal synostosis, Hearing impairment, Brachycephaly, Brachydactyly ORPHA:35099
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Transient hyperphenylalaninemia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Autosomal Recessive Centronuclear Myopathy
Progressive muscle weakness, Gowers sign, Ophthalmoplegia, Facial palsy, Facial diplegia, Ophthal... ORPHA:169186
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Pachygyria, Neuronal loss in the cerebral cortex, Neonatal respirator... ORPHA:168486
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Progressive muscle weakness, Respiratory insufficiency due to muscle weakness OMIM:613561
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Bipolar affective disorder, Aggressive behavior, Broad-based gait, Resting tremor, Irrita... ORPHA:3077
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Reduced maximal inspiratory pressure, Respiratory insuffi... ORPHA:266
Myasthenic Syndrome, Congenital, 16
Hyperlordosis, Apnea OMIM:614198
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency OMIM:253300
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Hypoplasia of the corpus callosum, Kyphosis, Cerebral atrophy, Lumbar hyperlordosis, M... OMIM:616756
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Aggressive behavior, Hyperactivity OMIM:604317
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:267700
Nemaline Myopathy 5
Progressive muscle weakness OMIM:605355
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Kyphosis OMIM:600175
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity, Abnormality of the basal ganglia, Small basal ganglia, R... ORPHA:263410
Dna2-Related Mitochondrial Dna Deletion Syndrome
Hyperlordosis, Obstructive sleep apnea, Exertional dyspnea ORPHA:352470
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia,... ORPHA:248111
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Gait ataxia, Progressive external ophthalmoplegia, Progressive muscle weakness, Facial palsy, Imp... OMIM:157640
Motor Neuropathy, Peripheral, With Dysautonomia
Progressive muscle weakness OMIM:252320
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Congenital Bowing Of Long Bones
Hyperlordosis ORPHA:2292
Pandas
Claustrophobia, Depression, Agoraphobia, Emotional lability, Separation insecurity, Impulsivity, ... ORPHA:66624
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Ovoid vertebral bodies, Kyphosis, Hypoplasia of the odontoid process ORPHA:93315
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Metatropic Dysplasia
Scoliosis, Platyspondyly, Anisospondyly, Long coccyx, Kyphosis, Respiratory insufficiency, Caudal... OMIM:156530
Hyperekplexia 4
Cerebral atrophy, Respiratory failure, Kyphoscoliosis OMIM:618011
Vacterl Association With Hydrocephalus
Abnormality of the vertebral column, Abnormal vertebral morphology, Stillbirth, Aqueductal stenos... OMIM:276950
Muscular Dystrophy, Congenital, 1B
Spinal rigidity, Respiratory failure OMIM:604801
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Cerebral atrophy, Neonatal respiratory distress, Respirato... OMIM:619057
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal corpus... ORPHA:255182
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Restrictive ventilatory defect, Pachygyria, Kyphosis, Abnormal cerebral... OMIM:606612
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Scoliosis, Lumbar hyperlordosis OMIM:602484
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Hyperlordosis, Back pain OMIM:618129
Nemaline Myopathy 3
Scoliosis, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Respiratory insuffici... OMIM:161800
Coenzyme Q10 Deficiency, Primary, 1
Progressive muscle weakness, Ataxia OMIM:607426
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Ataxia OMIM:618426
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Brachycephaly, Frontal bossing, Plagiocephaly OMIM:300064
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Isolated Glycerol Kinase Deficiency
Scoliosis, Hyperlordosis ORPHA:408
Dystonia With Ringbinden
Hyperlordosis OMIM:224550
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Myasthenic Syndrome, Congenital, 14
Scoliosis, Hyperlordosis OMIM:616228
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Hyperlordosis, Coronal cleft vertebrae, Abnormal vertebral morphology, Irregular verte... OMIM:618363
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Lumbar hyperlordosis OMIM:253320
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Familial Anetoderma
Lumbar hyperlordosis ORPHA:228277
Ck Syndrome
Scoliosis, Hyperlordosis, Pachygyria, Kyphosis, Polymicrogyria, Microcephaly OMIM:300831
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis ORPHA:2310
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Hypochondroplasia
Scoliosis, Hyperlordosis, Sleep apnea, Abnormal form of the vertebral bodies, Spinal canal stenosis ORPHA:429
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, Abnormality of the vertebral column, Amyotrophic lateral sclerosis, Abnormal motor... ORPHA:52430
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis ORPHA:2501
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Truncal ataxia, Progressive proximal muscle weakness ORPHA:369847
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Scoliosis, Fusion of the left and right thalami, Abnormality of the anterior commissure, Midline ... OMIM:617542
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:603553
Lennox-Gastaut Syndrome
Personality disorder, Aggressive behavior, Falls, Hyperactivity, Mental deterioration ORPHA:2382
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Progressive muscle weakness OMIM:600462
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Scoliosis, Hyperlordosis, Hypoplasia of the corpus callosum, Respiratory insufficiency, Cerebral ... OMIM:613156
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis ORPHA:280333
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Lumbar hyperlordosis, Microcephaly, Spinal rigidity OMIM:609308
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Focal T2 hyperintense basal ganglia lesion, Cerebral atrophy, Death in infancy, Respiratory insuf... OMIM:245400
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Steppage gait, Depression, Emotional lability, Social and occup... ORPHA:98818
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Anemia, Splenomegaly, Cognitive impairment, Hypersplenism, A... ORPHA:846
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Thrombocytopenia, Irritability, Anemia, Splen... ORPHA:848
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Temporal cortical atrophy, Frontal cortical atrophy, Back pain, Amyotrophic lateral sclerosis, Lu... OMIM:167320
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Spina bifida occulta, Microcephaly, Short neck, Vertebral segmentation ... ORPHA:1797
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Bethlem Myopathy
Neck muscle weakness, Muscle weakness, Reduced maximal expiratory pressure, Quadriceps muscle wea... ORPHA:610
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Head tremor, Abnormal motor neuron morphology, Leukoencephalo... OMIM:613724
Nemaline Myopathy 2
Scoliosis, Apnea, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Spinal rigidity OMIM:256030
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hyperlordosis ORPHA:363454
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Tremor, Death in infancy, Myelopathy, Respiratory failure, Leukoencephalopathy, Cerebral edema OMIM:617186
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia, Flat occiput, Brachycephaly, Plagiocephaly ORPHA:2898
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hyperlordosis, Hypoplasia of the brainstem, Increased vertebral height, Kinetic tremor, Abnormal ... OMIM:616817
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Joubert Syndrome 7
Scoliosis, Hypoplasia of the brainstem, Brainstem dysplasia, Episodic tachypnea, Central apnea, A... OMIM:611560
Multiple Mitochondrial Dysfunctions Syndrome 3
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Cerebral atrophy, R... OMIM:615330
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Kyphosis, Respiratory insufficiency due to muscle weakness, Spinal rigidity, Respiratory... ORPHA:352447
Hypochondroplasia
Lumbar hyperlordosis OMIM:146000
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Progressive muscle weakness, Facial palsy, Limb muscle weakness, Progressive external ophthalmopl... OMIM:610131
Ck Syndrome
Pachygyria, Lumbar hyperlordosis, Polymicrogyria, Kyphoscoliosis, Microcephaly, Abnormal cerebral... ORPHA:251383
Stiff Person Spectrum Disorder
Difficulty walking, Agoraphobia, Emotional lability, Exaggerated startle response, Falls, Anxiety ORPHA:3198
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:605711
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Elevated circulating gamma-aminobutyric acid concentration, Self-injurious b... OMIM:271980
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia, Self-biting, Hyperactivity OMIM:618314
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Hyperlordosis, Thoracic scoliosis ORPHA:62
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hyperlordosis OMIM:615290
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:228940
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Anxiety, Abnormal fear/anxiety-related behavior, Inapprop... ORPHA:309246
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Spinal cord compression, Microcephaly, Short neck, Fused cervical vertebrae ORPHA:2522
Mucolipidosis Type Iii
Hyperlordosis, Abnormal form of the vertebral bodies ORPHA:577
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Thrombocytopenia, Anemia, Leukopenia, Hypomagnesemia OMIM:613845
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Hearing impairment, Craniosynostosis, Thickened calvaria, Brachycephaly ORPHA:178377
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Hyperkalemic Periodic Paralysis
Gait disturbance, Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentration, ... ORPHA:682
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Craniosynostosis And Dental Anomalies
Craniosynostosis, Lambdoidal craniosynostosis, Short phalanx of finger, Sagittal craniosynostosis... OMIM:614188
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... OMIM:602433
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Anauxetic Dysplasia 2
Hyperlordosis, Ovoid vertebral bodies, Cervical spine instability, Thoracolumbar kyphoscoliosis, ... OMIM:617396
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Isolated Plagiocephaly
Midface retrusion, Hearing impairment, Frontal bossing, Plagiocephaly ORPHA:35098
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Sotos Syndrome 3
Hyperactivity OMIM:617169
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Scoliosis, Dyspnea, Respiratory distress, Cough, Lumbar hyperlordosis, Spinal rigidity, Microcephaly ORPHA:86812
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Kyphosis OMIM:255200
Myopathy, Congenital, With Fiber-Type Disproportion
Scoliosis, Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Lumbar hy... OMIM:255310
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis, Cerebral cortical atrophy, Tremor ORPHA:1192
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Abnormal vertebral morphology, Abnormal midbrain morphology... ORPHA:280195
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Pontocerebellar Hypoplasia Type 10
Simplified gyral pattern, Abnormal brainstem morphology, Abnormal cerebral cortex morphology ORPHA:411493
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, Kyphosis, Spinal rigidity, Respiratory failure, Short neck ORPHA:75840
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Asbestos Intoxication
Restrictive ventilatory defect, Wheezing, Dyspnea, Late inspiratory crackles, Exertional dyspnea,... ORPHA:2302
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Ch├ędiak-Higashi Syndrome
Increased circulating ferritin concentration, Vacuolated lymphocytes, Neutropenia, Pancytopenia, ... ORPHA:167
Muscular Dystrophy, Duchenne Type
Scoliosis, Hyperlordosis, Hypoventilation, Respiratory insufficiency, Respiratory failure OMIM:310200
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Acrocapitofemoral Dysplasia
Scoliosis, Ovoid vertebral bodies, Hyperlordosis ORPHA:63446
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Self-injurious behavior, Paroxysmal bursts of laughter, Hyperactivity OMIM:618718
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:613090
Postsynaptic Congenital Myasthenic Syndromes
Scoliosis, Restrictive ventilatory defect, Thoracic kyphoscoliosis, Exertional dyspnea, Orthopnea... ORPHA:98913
Cholera
Hypocalcemia, Lethargy, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Irritability ORPHA:173
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:614373
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Restrictive ventilatory defect, Kyphosis, Vertebral fusion, Reduced for... OMIM:607155
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Diffuse white matter abnormalities, Type II lissencephaly, Olivopont... ORPHA:370959
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Respiratory insufficiency, Basal ganglia calcificatio... OMIM:135100
Arthrogryposis Multiplex Congenita 6
Neonatal death, Respiratory failure, Death in infancy, Death in childhood OMIM:619334
Amyotrophic Lateral Sclerosis
Dyspnea, Abnormal respiratory system physiology, Amyotrophic lateral sclerosis, Respiratory failu... ORPHA:803
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Blepharospasm, Resting tremor, Bradykinesia, Leg dystonia, Anxiety OMIM:606324
Leigh Syndrome
Respiratory failure, Focal substantia nigra T2 hyperintensity, Respiratory insufficiency, Abnorma... OMIM:256000
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Myelitis ORPHA:71211
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Truncal ataxia, Aggressive behavior, Ataxia, Unste... ORPHA:228360
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hyperlordosis, Microcephaly, Cerebral white matter atrophy ORPHA:369840
Oculocerebrodental Syndrome
Scoliosis, Hyperlordosis, Abnormality of thalamus morphology, Thoracic kyphosis, Dysplastic corpu... ORPHA:557003
Craniosynostosis 2
Unicoronal synostosis, Craniosynostosis, Frontal bossing, Trigonocephaly, Brachycephaly, Brachytu... OMIM:604757
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Platyspondyly, Abnormality of the vertebral column, Lumbar hyperlordosis, Abnormality of the inte... ORPHA:99642
Wieacker-Wolff Syndrome
Scoliosis, Hyperlordosis, Apnea, Kyphosis, Cerebral atrophy, Neonatal respiratory distress, Micro... OMIM:314580
Necrotizing Enterocolitis
Lethargy, Leukocytosis, Hyponatremia, Neutropenia, Thrombocytopenia ORPHA:391673
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the antihelix, Craniosynostosis, Finger syndactyly, Split hand, Brachycephaly, Mic... ORPHA:2145
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis OMIM:613157
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Scoliosis, Hyperlordosis, Pneumonia, Restrictive ventilatory defect OMIM:253700
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Ventilator dependence with inability to wean, Inspiratory stridor, Degeneration of anterior horn ... OMIM:604320
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Hyperlordosis, Spinal rigidity ORPHA:267
Cebalid Syndrome
Midface retrusion, Platystencephaly, Abnormality of the pinna, Plagiocephaly, Posteriorly rotated... OMIM:618774
Cataract-Intellectual Disability-Hypogonadism Syndrome
Scoliosis, Cerebral cortical atrophy, Hyperlordosis, Microcephaly ORPHA:1387
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, T... OMIM:264180
Mucopolysaccharidosis, Type Iva
Scoliosis, Hyperlordosis, Platyspondyly, Restrictive ventilatory defect, Ovoid vertebral bodies, ... OMIM:253000
Spinocerebellar Ataxia Type 1
Atrophy/Degeneration affecting the brainstem, Respiratory failure, Postural tremor, Abnormal brai... ORPHA:98755
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis OMIM:610313
Mental Retardation, Autosomal Dominant 23
Scoliosis, Hyperlordosis, Sacral dimple, Kyphosis OMIM:615761
Mucopolysaccharidosis, Type Ivb
Scoliosis, Hyperlordosis, Platyspondyly, Restrictive ventilatory defect, Ovoid vertebral bodies, ... OMIM:253010
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Difficulty walking, Hyperbilirubinemia, Hyponatremia, Neut... ORPHA:1667
Humeroradial Synostosis With Craniofacial Anomalies
Small earlobe, Humeroradial synostosis, Tarsal synostosis, Frontal bossing, Plagiocephaly, Brachy... OMIM:236410
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cough, Respiratory failure, Respiratory distress OMIM:263000
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Opisthotonus, Polymicrogyria, Respiratory failure, Microcephaly OMIM:610678
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Distal muscle weakness, Limb muscle weakness, Foot dorsiflexor weakness, Distal sensory impairment OMIM:118210
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Triosephosphate Isomerase Deficiency
Muscle weakness, Progressive muscle weakness, Respiratory insufficiency due to muscle weakness OMIM:615512
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creatinine... ORPHA:90038
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hyperlordosis OMIM:611588
Congenital Fiber-Type Disproportion Myopathy
Fatigable weakness of bulbar muscles, Pelvic girdle muscle weakness, Respiratory insufficiency du... ORPHA:2020
Whipple Disease
Depression, Hyponatremia, Ataxia, Anemia, Splenomegaly ORPHA:3452
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity, Respiratory fail... ORPHA:444013
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Familial Hypoaldosteronism
Hyperkalemia, Lethargy, Hyponatremia, Increased circulating renin level ORPHA:427
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Irregular vertebral endplates, Lumbar hyperlordosis, Cervical subluxation, Kyphosc... OMIM:184100
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait ORPHA:411515
Jansen-De Vries Syndrome
Hyperlordosis OMIM:617450
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis OMIM:613818
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:602522
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Scoliosis, Hyperlordosis, Abnormal brainstem MRI signal intensity, Hypoventilation, Pachygyria, P... ORPHA:258
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Dystonia 1, Torsion, Autosomal Dominant
Scoliosis, Hyperlordosis, Tremor, Kyphosis OMIM:128100
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Atlantoaxial instability, Platyspondyly, Restrictive ventilatory defect, Respiratory d... OMIM:183900
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Scapuloperoneal Spinal Muscular Atrophy
Scoliosis, Hyperlordosis, Kyphosis, Respiratory insufficiency, Stridor OMIM:181405
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Respiratory failure, Central hypoventilation, Leukoencephalopathy OMIM:618233
Porphyria Variegata
Abnormal circulating porphyrin concentration, Hyponatremia, Anxiety, Anemia ORPHA:79473
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Death in infancy, Neonatal respi... OMIM:610921
Muenke Syndrome
Broad thumb, Short middle phalanx of toe, Midface retrusion, Short middle phalanx of finger, Plag... OMIM:602849
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Sleep apnea, Hypoplasia of the corpus callosum, Kyphosis, Megalencephaly, Central ... OMIM:616482
Herpes Simplex Virus Encephalitis
Neutrophilia, Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:1930
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Scoliosis, Tremor, Basal ganglia calcification, Respiratory failure, Intention tremor OMIM:616505
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis OMIM:613723
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Scoliosis, Secondary microcephaly, Hyperlordosis OMIM:300986
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Platyspondyly, Abnormal respiratory system physiology, Laryngotracheomalacia, Kyphosis... ORPHA:94068
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Mucolipidosis Iii Gamma
Scoliosis, Hyperlordosis, Short neck, Kyphosis OMIM:252605
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
Lumbar hyperlordosis, Platyspondyly, Short neck OMIM:184000
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Abnormal form of the vertebral bodies, Hemivertebrae, Respiratory ... ORPHA:2759
Typical Nemaline Myopathy
Scoliosis, Hyperlordosis, Kyphosis, Respiratory insufficiency, Spinal rigidity, Short neck, Noctu... ORPHA:171436
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Platyspondyly, Hyperlordosis, C1-C2 subluxation, Hypoplasia of the odontoid process OMIM:184250
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Hyperactivity OMIM:618342
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Tremor, Cerebral atrophy, Caudate atrophy ORPHA:363400
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Potocki-Shaffer Syndrome
Wormian bones, Parietal foramina, Cutaneous syndactyly between fingers 2 and 5, Brachycephaly, Br... OMIM:601224
Arnold-Chiari Malformation Type Ii
Apnea, Brain stem compression, Inspiratory stridor, Pneumonia, Aqueductal stenosis, Meningocele, ... ORPHA:1136
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Microcephaly, Hyperlordosis ORPHA:2511
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Muscle weakness, Progressive muscle weakness, Limb-girdle muscle weakness ORPHA:370
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Myotonia Permanens
Hyperlordosis, Dyspnea, Asthma ORPHA:99735
Late-Onset Isolated Acth Deficiency
Lethargy, Hyponatremia, Hyperuricemia, Normocytic anemia, Hypercalcemia, Eosinophilia, Macrocytic... ORPHA:199299
Duchenne And Becker Muscular Dystrophy
Scoliosis, Hyperlordosis ORPHA:262
Three M Syndrome 1
Hyperlordosis, Increased vertebral height, Neonatal respiratory distress, Spina bifida occulta, S... OMIM:273750
Progressive Pseudorheumatoid Arthropathy Of Childhood
Scoliosis, Irregularity of vertebral bodies, Hyperlordosis, Platyspondyly, Beaking of vertebral b... ORPHA:1159
Acute Intermittent Porphyria
Tremor, Depression, Hyponatremia, Anxiety, Memory impairment, Mental deterioration ORPHA:79276
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Snakebite Envenomation
Thrombocytopenia, Hyponatremia ORPHA:449285
Menkes Disease
Wormian bones, Intracranial hemorrhage, Intrauterine growth retardation, Brachycephaly, Metaphyse... OMIM:309400
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Dyspnea, Respiratory distress, Bronchiectasis, Interstitial pneumonitis... OMIM:610913
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hyp... ORPHA:31824
Epiphyseal Dysplasia, Multiple, With Miniepiphyses