Gene Summary

Name:
myosin, heavy polypeptide 1, skeletal muscle, adult
Synonyms:
Myhs-f2,  Myhs-f,  Myhsf2,  MYHC-IIX,  IId/x,  A530084A17Rik,  myosin heavy chain 2X,  IId,  MyHC-IId/x

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased urine creatinine level Myh1tm1b(KOMP)Wtsi HOM Early adult 1.08×10-33
abnormal sleep behavior Myh1tm1b(KOMP)Wtsi HOM Early adult 1.45×10-14
decreased prepulse inhibition Myh1tm1b(KOMP)Wtsi HOM   Early adult 1.04×10-08
decreased leukocyte cell number Myh1tm1b(KOMP)Wtsi HOM Early adult 4.69×10-07
abnormal auditory brainstem response Myh1tm1b(KOMP)Wtsi HOM   Early adult 2.63×10-08
abnormal bone structure Myh1tm1b(KOMP)Wtsi HOM Early adult 6.60×10-11
increased hemoglobin content Myh1tm1b(KOMP)Wtsi HOM Early adult 3.39×10-05
increased erythrocyte cell number Myh1tm1b(KOMP)Wtsi HOM   Early adult 4.34×10-08
decreased bone mineral density Myh1tm1b(KOMP)Wtsi HOM Early adult 1.39×10-18
decreased urine magnesium level Myh1tm1b(KOMP)Wtsi HOM Early adult 6.72×10-42
decreased grip strength Myh1tm1b(KOMP)Wtsi HOM Early adult 4.73×10-14
decreased bone mineral content Myh1tm1b(KOMP)Wtsi HOM Early adult 1.46×10-10
decreased urine glucose level Myh1tm1b(KOMP)Wtsi HOM Early adult 9.13×10-10
decreased thigmotaxis Myh1tm1b(KOMP)Wtsi HOM Early adult 3.01×10-08
increased total body fat amount Myh1tm1b(KOMP)Wtsi HOM Early adult 9.68×10-05
decreased exploration in new environment Myh1tm1b(KOMP)Wtsi HOM Early adult 5.36×10-05
abnormal startle reflex Myh1tm1b(KOMP)Wtsi HOM Early adult 1.19×10-14
increased hematocrit Myh1tm1b(KOMP)Wtsi HOM Early adult 3.39×10-07

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
Esophagus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote Ambiguous
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 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 Whole Body Dorso Ventral

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Forepaw

15 Images

Sleep Wake

Wake state (bmp file)

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

Adult LacZ

LacZ Images Section

8 Images

Eye Morphology

Images Slit Lamp

1 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Electroretinography 2

Rod and cone PDF

3 Images

Auditory Brain Stem Response

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

6 Images

Human diseases caused by Myh1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Myh1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Distal muscle wea... OMIM:600175
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Respiratory insufficie... OMIM:300718
Myasthenic Syndrome, Congenital, 25, Presynaptic
Poor head control, Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrop... OMIM:618323
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Neck flexor weakness, Elbow contracture, Kyphoscoliosis, Spinal rigidity, Ankle ... OMIM:620386
Bethlem Myopathy 2
Scapular winging, Proximal muscle weakness, Kyphosis, Flexion contracture, Myopathy, Scoliosis, I... OMIM:616471
Inclusion Body Myositis
Distal muscle weakness, Proximal muscle weakness, Inflammatory myopathy, Dysphagia, Rimmed vacuoles OMIM:147421
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy, Muscle weakness, Dysphagia ORPHA:85162
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Kyphosis, Upper limb ... OMIM:617087
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness OMIM:611225
Nemaline Myopathy 7
Lumbar hyperlordosis, Kyphoscoliosis, Fatty replacement of skeletal muscle, Gowers sign, Respirat... OMIM:610687
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Distal muscle weakness, Distal amyotrophy, Scoliosis, Type... OMIM:619042
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Osteomalacia, Hypocitraturia, Sensorineural hearing impairme... ORPHA:18
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Osteomalacia, Parathormone-independent increased renal tubular calcium reabsorpt... ORPHA:405
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... OMIM:620286
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Distal muscle weakness, Autophagic vacuoles, Spinal rigidity, Centrally nucleat... OMIM:608423
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Scoliosi... OMIM:613204
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Gowers sign, Flexion contracture, Faci... OMIM:609285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Elbow contracture, Vertebral fusion, Facial palsy, Hyperlordosis, Should... OMIM:606612
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal muscle weakness... OMIM:605637
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Bulbar palsy, Spinal muscular atrophy, Hyperlordosis, Kyphosis... OMIM:615290
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Myopathy, Centronuclear, 2
Scapular winging, Distal muscle weakness, Facial palsy, Hyperlordosis, Centrally nucleated skelet... OMIM:255200
Autosomal Dominant Hypocalcemia
Writer's cramp, Optic atrophy, Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis, De... ORPHA:428
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Distal muscle weakness, Neck flexor weakness, Centrally nucleated skeletal musc... OMIM:601846
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Proximal m... OMIM:618484
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphology, Flexion con... ORPHA:75840
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Scoliosis, Short neck OMIM:168400
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Spinal rigidity, Hyperlordosis, Kyphosis, Gowers sign, Proximal muscle weakness, Proximal amyotro... OMIM:617404
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Kyphoscoliosis, Ankle flex... OMIM:616668
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Fanconi Renotubular Syndrome 2
Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Recurrent fractures, Rickets, Hyperca... OMIM:613388
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... OMIM:616852
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Neck flexor... OMIM:618138
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia ORPHA:46532
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Proximal muscle weakness, Kyphosis, Ophthalm... OMIM:617143
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Hyperlysinuria, Cognitive impairment, Anemia OMIM:238700
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia ORPHA:3319
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Osteomalacia, Recurrent fractures, Delayed epiphyseal oss... OMIM:300009
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Overweight, Z-... OMIM:619178
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, G... OMIM:117000
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
East Syndrome
Salt craving, Renal salt wasting, Renal magnesium wasting, Sensorineural hearing impairment, Enur... ORPHA:199343
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Distal muscle weakness, Scoliosis, Skeletal muscle atrophy ORPHA:101078
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Proximal muscle weakness, Quadriceps muscle weakness, G... ORPHA:206546
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Rickets, Aminoaciduria, Glycosu... OMIM:615605
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Neck flexor weakness, Centrally nucleated skelet... OMIM:608358
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Distal muscle weakness, Kyphoscoliosis, Proximal muscle weakness, Upper limb muscle weakness, Dis... OMIM:605588
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Kyphoscoliosis, Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Flexion contra... OMIM:607855
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Tempi Syndrome
Increased hematocrit, Polycythemia, Abnormality of the kidney ORPHA:284227
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Kyphoscoliosis, Upper limb amyotrophy, Knee flexion cont... ORPHA:496689
Spinal Muscular Atrophy, Ryukyuan Type
Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy OMIM:271200
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma... OMIM:134600
Dent Disease
Delayed epiphyseal ossification, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight proteinuri... ORPHA:1652
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... OMIM:618314
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive, Attention deficit hyperactivity disorder, Facial myokymia OMIM:620007
Brown-Vialetto-Van Laere Syndrome 2
Bulbar palsy, Facial palsy, Kyphoscoliosis, Aggressive behavior, Generalized amyotrophy, Scoliosi... OMIM:614707
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Hyperactivity, Small for gestational age ORPHA:85288
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Progressive neurologic deterioration, Tremor, Hyperinsulinemia, Renal Fanconi syndro... ORPHA:263455
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Lumbar hyperlordosis, Multiple joint contractures, Increased Z-disc widt... OMIM:617114
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis ORPHA:101075
Wilson Disease
Tremor, Osteoarthritis, Hand tremor, Aminoaciduria, Limb dystonia, Hemolytic anemia, Osteomalacia... OMIM:277900
Familial Renal Glucosuria
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Renal tubular dy... ORPHA:69076
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... OMIM:600501
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... ORPHA:536516
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Athetosis, Glycosuria, Interictal epileptiform activity, Type I diabetes mellitus, Hyp... OMIM:618857
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Aminoaciduria, Renal Fa... ORPHA:436271
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Spinal rigidity, Respirator... OMIM:254090
Idiopathic Hypercalciuria
Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat... ORPHA:2197
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Congenital fibrosis of extraocular muscles, Restrictive partial external ophthalmoplegia OMIM:609384
Fanconi-Bickel Syndrome
Osteopenia, Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Rickets, Hypercalci... ORPHA:2088
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Tremor, Splenomegaly, Choreoathetosis, Irritability, EEG abnor... OMIM:612126
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Opisthotonus OMIM:250800
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Axial muscle weakness, Scoliosis, Arthrogryposis multi... ORPHA:178148
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Recurrent fractures, Sensorineural hearing impairment, Rickets, Stage 5 chroni... OMIM:268315
Typical Nemaline Myopathy
Neck flexor weakness, Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Limb-gi... ORPHA:171436
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Renal magnesium wasting, Nephrocalcinosis, Renal potassium wasting ORPHA:564178
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Rickets, Nephrocalcinosis, Amino... OMIM:616026
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Hypophosphatemic rickets,... OMIM:618913
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy, Kyphosis, Muscle weakness, Scoliosis ORPHA:99014
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Poems Syndrome
Sclerosis of hand bone, Papilledema, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Sc... ORPHA:2905
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Hyperlordo... ORPHA:98855
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal amyotrophy, Distal muscle weakness, Kyphoscoliosis, Proximal muscle weakness OMIM:607831
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hyperphosphaturia, Ketonuria, Proteinuria, Osteomalacia, Ric... OMIM:227810
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical... ORPHA:98863
Gaisböck Syndrome
Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, Nephr... ORPHA:90041
Cdkl5-Deficiency Disorder
Poor head control, Kyphosis, Inappropriate laughter, Scoliosis, Bruxism, Stereotypical hand wringing ORPHA:505652
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Ketotic hypoglycemia, Irritability, Glycosuria, Postprandial hyperglycemia ORPHA:2089
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Central Core Disease
Multiple joint contractures, Kyphoscoliosis, Respiratory insufficiency due to muscle weakness, Op... ORPHA:597
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Progressive external ophthalmoplegia, Spinal rigidity, Respirator... ORPHA:352447
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Distal muscle weakness, Kyphosis, Ophthalmoplegia, Obesity, Scoliosis, Foot dorsiflexor weakness OMIM:618124
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... OMIM:617519
Hypomagnesemia 2, Renal
Renal magnesium wasting, Renal insufficiency, Hypocalciuria, Chondrocalcinosis OMIM:154020
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Mody
Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin... ORPHA:552
Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... ORPHA:98853
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Distal muscle weakness, Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated s... OMIM:617072
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Sensorineural hearing impairment, Optic atrophy, Renal tubular dy... OMIM:220110
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Proximal muscle weakness, Kyphosis, Achilles tendon contracture,... OMIM:607155
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Confusion, Hematuria, Microangiopathic hemolyt... ORPHA:54057
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Irrit... ORPHA:848
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Osteomalacia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, ... ORPHA:3337
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve... OMIM:619040
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Hyperactivity, Scoliosis, Bruxism OMIM:300434
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Glutamate Formiminotransferase Deficiency
Hypersegmentation of neutrophil nuclei, Aminoaciduria, Elevated urinary formiminoglutamic acid le... OMIM:229100
Sandhoff Disease
Kyphosis, Failure to thrive, Muscle weakness ORPHA:796
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta 2-microglobulin... ORPHA:97362
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Enuresis, Tics, ... ORPHA:66624
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures ORPHA:3454
Glutathione Synthetase Deficiency
Intention tremor, Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Neutropenia OMIM:266130
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Distal muscle weakness, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Intrinsic han... OMIM:619574
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Interphalangeal joint contractu... ORPHA:1145
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Low-set ears, Glycosuria, N... OMIM:613404
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Reticulocytosis, Renal insufficiency, Exercise-induced myoglobinuria, Erythroid... OMIM:300653
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Myopathy, Generalized limb muscle atrophy, Scoliosis ORPHA:2598
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Proximal muscle weaknes... OMIM:211530
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Sensorineural hearin... ORPHA:52368
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita OMIM:618393
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Kyphosis, Progressive muscle... OMIM:248800
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Progressive external ophthalmoplegia, Facial palsy, Spinal rigidi... OMIM:615084
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hemolytic anemia, Reticulocytosis, Anorexia, Rickets, Hepatosplenomegaly, Nephrocalc... OMIM:611590
Tyrosinemia Type 1
Splenomegaly, Generalized aminoaciduria, Rickets of the lower limbs ORPHA:882
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Failure to thrive, Flexion contracture, Myopathy OMIM:618237
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Anorexia, Weight loss ORPHA:178029
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal f... ORPHA:100924
Gitelman Syndrome
Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Chondrocalcinosis, Hypocalciuria, Poly... OMIM:263800
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Hypochromic microcyti... ORPHA:3240
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:30925
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Small for gestational age, Kyphosis, Repetitive compulsive behavior, Congenital co... ORPHA:352490
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Short neck, Respiratory insufficiency due to muscle weakness, Kyphosis, ... OMIM:611890
Myasthenia Gravis
Hemolytic anemia, Pure red cell aplasia, Dysphagia, Rheumatoid arthritis, Glycosuria, Hearing imp... ORPHA:589
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Aminoaciduria, Reticulocytosis ORPHA:33574
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Rickets, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Gl... ORPHA:411629
Hypermanganesemia With Dystonia 1
Tremor, Polycythemia, Dystonia OMIM:613280
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Bilateral fetal pyelectasis, Increased urine succinate level... OMIM:606812
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting renal tubular a... ORPHA:47159
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hyperphosphaturia, Osteoporosis, Hypercalciuria, Nephrolithiasis, Increased susceptib... OMIM:612286
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Optic disc pallor, Recurrent fractures, Facial p... OMIM:611490
Livedoid Vasculopathy
Pancytopenia, Diabetes mellitus, Abnormality of the peripheral nervous system, Leukocytosis, Atro... ORPHA:542643
Cataract 47
Glycosuria OMIM:612018
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive, Upper limb hypertonia ORPHA:319199
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter... OMIM:616470
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cognitive ... ORPHA:846
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Failure to thrive, Myopathy, Scoliosis OMIM:618234
Galactosemia Iii
Splenomegaly, Aminoaciduria, Galactosuria, Sensorineural hearing impairment OMIM:230350
Cystinosis, Nephropathic
Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syn... OMIM:219800
Ck Syndrome
Hyperactivity, Aggressive behavior, Hyperlordosis, Kyphosis, Scoliosis, Slender build OMIM:300831
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Tremor, Renal tubular dysfunction, Irritability, Glucose intolerance, Gl... OMIM:616539
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Congenital muscular dystrophy ORPHA:1875
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Self-injurious behavior, Skin-picking, Aggressive behavior OMIM:618512
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Hemolytic anemia, Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuri... ORPHA:447
Insulin-Resistance Syndrome Type B
Proteinuria, Osteoarthritis, Fasting hyperinsulinemia, Insulin resistance, Insulin-resistant diab... ORPHA:2298
Camptodactyly-Taurinuria Syndrome
Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger ORPHA:1325
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas... OMIM:613845
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Osteoporosis OMIM:204730
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur... OMIM:612287
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Chronic ... OMIM:300554
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Ravine Syndrome
Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Aminoaciduria, Recurrent fractures ORPHA:417
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Small for gestational age, Decreased body weight OMIM:618392
Glucose/Galactose Malabsorption
Abnormal oral glucose tolerance, Glycosuria OMIM:606824
Congenital Myopathy 22A, Classic
Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Centrally nucleated skele... OMIM:620351
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of... ORPHA:231222
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Anorexia, Craniosynostosis, Hypercalciuria, Increased susceptibilit... OMIM:241500
Cystinosis
Myopathy, Polydipsia, Failure to thrive, Abnormal repetitive mannerisms, Muscle weakness ORPHA:213
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Generalized muscle weakness, Weight loss, Addicti... ORPHA:399
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Obesity, Scoliosis OMIM:616756
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Multiple Acyl-Coa Dehydrogenase Deficiency
Abnormal pinna morphology, Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cort... OMIM:231680
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Macroglossia, Scoliosis, Dysphagia, Achalasia ORPHA:79107
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Kyphosis, Dysphagia, Limb hypertonia ORPHA:500180
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Co... OMIM:300555
Cranioectodermal Dysplasia 1
Joint laxity, Inguinal hernia, Sagittal craniosynostosis, Renal magnesium wasting, Chronic kidney... OMIM:218330
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Osteomalacia, Rickets, Iron deficiency anemia, Tooth abscess ORPHA:89937
Dermotrichic Syndrome
Aganglionic megacolon, EEG abnormality, Aminoaciduria, Macrotia, Anemia ORPHA:99688
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Sialidosis Type 2
Kyphosis, Flexion contracture, Muscle weakness, Skeletal muscle atrophy ORPHA:87876
Congenital Fiber-Type Disproportion Myopathy
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak... ORPHA:2020
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype... ORPHA:73224
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Elevated circulating creatinine concent... ORPHA:411634
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Kyphosis, Flexion contracture, Obesity, Scoliosis, Ski... OMIM:615547
Lopes-Maciel-Rodan Syndrome
Kyphosis, Dysphagia, Agitation, Scoliosis, Bruxism, Abnormal repetitive mannerisms OMIM:617435
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, EEG with generalized slow activity, Orthostatic hypotension, ... ORPHA:99027
Intellectual Developmental Disorder, Autosomal Dominant 26
Hyperactivity, Small for gestational age, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita OMIM:615834
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Tremor, Decreased nerve conduction velocity, Neur... ORPHA:206443
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Renal phosphate wasting, Rickets, Osteomalacia OMIM:193100
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Confusion, Tremor, Hemolytic-uremic syndrome, Schistocytosis, Eleva... OMIM:274150
Kleefstra Syndrome 2
Kyphosis, Self-injurious behavior, Scoliosis OMIM:617768
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Obesity, Scoliosis ORPHA:276630
Seckel Syndrome 10
Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Insulin resistance, Gluco... OMIM:617253
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Flexion contracture, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylgluta... OMIM:604273
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Irri... OMIM:616881
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia, Sensorineural ... OMIM:249270
Familial Isolated Hyperparathyroidism
Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalciuria, Nephrocalcinosis, Chondrocalc... ORPHA:99879
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenomegaly, Red urin... OMIM:618892
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly OMIM:313420
Mcdonough Syndrome
Kyphosis, Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis ORPHA:2471
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney disease, Renal a... ORPHA:84081
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Obesity, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis OMIM:301900
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggr... ORPHA:3077
Stiff-Person Syndrome
Exaggerated startle response, Diabetes mellitus, Opisthotonus, Depression, Anemia OMIM:184850
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Microcytic anemia, Sensorineural hearing impairment, Methylmalonic aciduria, Irritability, Atheto... OMIM:612073
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Bardet-Biedl Syndrome 9
Truncal obesity, Polydipsia, Polyphagia, Obesity OMIM:615986
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypercalciuria, Nephrocalcinosis, Bilateral sensorineural hearing impairment, Distal ren... OMIM:602722
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Chorioretinal scar, Anorexia, Elevated circulating creatinine con... ORPHA:91500
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis, Dysph... OMIM:128100
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Irritability, Aminoaciduria, Facial diplegia, Hearing impairment OMIM:609560
Lead Poisoning
Anorexia, Cranial hyperostosis, Imbalanced hemoglobin synthesis, Chronic kidney disease, Abnormal... ORPHA:330015
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Scoliosis, Abnormality of the cervical s... ORPHA:48431
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Reticulocytosis, Tremo... ORPHA:713
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Muscle weakness, Scoliosis ORPHA:85317
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypospadias, Craniosynostosis, Hypercalciuria, Low-set ears, Micropenis OMIM:614732
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Limb muscle weakness, Lower limb muscle weakness, Scoliosis OMIM:614409
Stimmler Syndrome
Type II diabetes mellitus, Aminoaciduria, Abnormal dental enamel morphology ORPHA:3199
Galactose Epimerase Deficiency
Splenomegaly, Aminoaciduria ORPHA:79238
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit ORPHA:79126
Von Hippel-Lindau Syndrome
Sensorineural hearing impairment, Renal cell carcinoma, Multiple renal cysts, Polycythemia, Tinnitus OMIM:193300
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Hypercalc... OMIM:241530
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Distal muscle weakness, Facial palsy, Short neck, Kyphosis, Achilles tendon cont... OMIM:301041
Rett Syndrome
Skeletal muscle atrophy, Cachexia, Kyphosis, Scoliosis, Bruxism, Stereotypical hand wringing OMIM:312750
Ogden Syndrome
Global glomerulosclerosis, Torticollis, Inguinal hernia, Polycythemia, Maternal diabetes, Protrud... OMIM:300855
Winchester Syndrome
Kyphosis OMIM:277950
Hereditary Amyloidosis With Primary Renal Involvement
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Elevated circulating creat... ORPHA:85450
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Tremor, Splenomegaly, Increased urinary O-linke... ORPHA:812
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Foot joint contracture, Sc... ORPHA:90321
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Truncal obesity, Scoliosis ORPHA:2429
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia OMIM:222730
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Vesicoureteral reflux, Nephropathy, Poster... ORPHA:116
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Flynn-Aird Syndrome
Kyphosis, Cachexia, Scoliosis, Skeletal muscle atrophy ORPHA:2047
Charcot-Marie-Tooth Disease Type 1F
Restless legs, Absent brainstem auditory responses, Urinary incontinence, Optic nerve hypoplasia,... ORPHA:101085
Pearson Syndrome
Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuria, Diabetes mellitus, Thrombocytope... ORPHA:699
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia OMIM:237800
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Hyperactivity, Aggressive behavior, Kyphosis, Macroglossia, Abdomin... OMIM:300354
X-Linked Intellectual Disability Due To Gria3 Mutations
Distal muscle weakness, Facial hypotonia, Aggressive behavior, Kyphosis, Scoliosis, Abnormality o... ORPHA:364028
Tiglic Acidemia
Aminoaciduria OMIM:275190
Wieacker-Wolff Syndrome
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Distal amyotroph... OMIM:314580
Atypical Rett Syndrome
Total ophthalmoplegia, Restrictive behavior, Kyphosis, Tongue thrusting, Agitation, Inappropriate... ORPHA:3095
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs... OMIM:600740
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Polydipsia, Muscle weakness ORPHA:251274
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Respiratory insufficiency du... OMIM:618291
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Lower limb hypertonia, Upper limb hypertonia OMIM:614898
Bruck Syndrome 1
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin... OMIM:259450
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Osteomalacia, Nephrolithiasis, Hypercalciuria, Reduced bone mineral density, H... ORPHA:157215
Zimmermann-Laband Syndrome 3
Kyphosis, Flexion contracture OMIM:618658
Hall-Riggs Syndrome
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive OMIM:234250
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... OMIM:231095
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hyperlordosis, Kyphosis, Compulsive behaviors, Scoliosis OMIM:615761
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... ORPHA:99885
Arthrogryposis, Distal, Type 5
Decreased muscle mass, Kyphosis, Ophthalmoplegia, Distal arthrogryposis, Firm muscles, Scoliosis,... OMIM:108145
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr... OMIM:239000
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre... OMIM:300946
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Exercise-induced myoglobinuria, Reduced erythrocyte 2,3-diphos... OMIM:232800
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Arthrogryposis, Distal, Type 2A
Hip contracture, Flexion contracture of finger, Inguinal hernia, Recurrent fractures, Shoulder fl... OMIM:193700
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... OMIM:601455
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Head titubation, Irritability, Aminoaciduria, Dystonia OMIM:250620
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... OMIM:156530
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231226
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Low-set, posteriorly rotated ears, Hypospadias, Microcytic anemia, Flexion contracture, Aplasia/H... ORPHA:98791
Cerebrotendinous Xanthomatosis
Osteopenia, Resting tremor, Optic disc pallor, Short attention span, Abnormal auditory evoked pot... ORPHA:909
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal form of the ... ORPHA:2635
Familial Hyperaldosteronism Type I
Polydipsia, Muscle weakness ORPHA:403
Galactosemia I
Hemolytic anemia, Aminoaciduria, Galactosuria, Increased level of galactitol in urine, Albuminuria OMIM:230400
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Polycythemia, Action tremor, Dystonia ORPHA:309854
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Hypercalcemia, Infantile, 2
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis OMIM:616963
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Poikilocytosis, Fava b... OMIM:300908
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Joint hypermobility, Thromb... OMIM:617052
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Thrombocytopenia OMIM:603585
Von Hippel-Lindau Disease
Papilledema, Elevated urinary catecholamine level, Renal cell carcinoma, Multiple renal cysts, Po... ORPHA:892
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Distal amyotrophy, Flexion contracture, Scoliosis OMIM:609541
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia, Limb dystonia ORPHA:621
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Agitation, Truncal obesity, Skeletal muscle atrophy OMIM:219080
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Anemia, Aminoaciduria, Neutropenia, Umbilical hernia, Thrombocytopenia OMIM:614520
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Polyuria, Recurrent fractures, Splenomegaly, Hypercalciuria, Aminoaciduria, Po... OMIM:239200
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Polyuria, Renal salt wasting, Sensorineural hearing impairment, Enuresis, Hypocalci... OMIM:612780
Phenylketonuria
Aminoaciduria ORPHA:716
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231214
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Renal insufficiency, Proteinuria, Abnormal ... OMIM:216400
Whipple Disease
Myositis, Cachexia, Anorexia, Polydipsia, Muscle weakness ORPHA:3452
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Optic nerve hypoplasia, Irritability, Joint c... OMIM:617864
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Abnormality of the musculature of the lower limbs, Obesity, Scoliosis ORPHA:464282
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Cachexia, Anorexia, Kyphosis, Scoliosis ORPHA:1969
Zimmermann-Laband Syndrome 2
Macroglossia, Kyphosis, Short neck OMIM:616455
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... ORPHA:309246
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Cupped ear, Persistence of hemoglobin F, Self-injurious behavior, Low-set ears, Overfolded helix,... OMIM:617101
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Hypoglycemia, Anorexia, Lacticaciduria, Aminoaciduria OMIM:619386
Uruguay Faciocardiomusculoskeletal Syndrome
Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Skeletal muscle hypertrophy, Scoliosis, C... OMIM:300280
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Resting tremor, Urinary incontinence, Narcolepsy, Sensorineural hearing impairment, Optic atrophy... ORPHA:314404
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Recurrent urinary tract infections, Osteomyelitis, Glomerulonephritis, He... ORPHA:2968
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Recurrent urinary tract infections, Aganglionic megacolon, Abnormal hemoglob... ORPHA:847
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Renal insufficiency, Proteinuria, Abnormal pinna morphology,... OMIM:133540
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Irritability, Hyposthenuria, Hypernatriuria OMIM:300539
Hydroxykynureninuria
Aminoaciduria OMIM:236800
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Atypical Werner Syndrome
Sclerosis of hand bone, Renal neoplasm, Increased bone mineral density, Diabetes mellitus, Lipoat... ORPHA:79474
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Hereditary Orotic Aciduria
Low-set, posteriorly rotated ears, Orotic acid crystalluria, Splenomegaly, Abnormality of the ure... ORPHA:30
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Mccune-Albright Syndrome
Pancytopenia, Hyperphosphaturia, Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bone... ORPHA:562
Gracile Syndrome
Aminoaciduria OMIM:603358
Corticosteroid-Binding Globulin Deficiency
Anemia, Decreased urinary potassium OMIM:611489
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... ORPHA:1215
Familial Cold Urticaria
Polydipsia ORPHA:47045
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy, Polydipsia, Failure to thrive ORPHA:320
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, Progressive neurologic deterioration OMIM:612075
Becker Nevus Syndrome
Shoulder girdle muscle atrophy, Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Infantile Krabbe Disease
Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Progressive neurologic... ORPHA:206436
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Renal phosphate wasting, Renal ... OMIM:307800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Elevated circulating creatini... OMIM:235400
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 3rd finger, Kyphosis, Contracture of the... OMIM:130060
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Autosomal Recessive Hypophosphatemic Rickets