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,  MyHC-IId/x,  IId

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
increased erythrocyte cell number Myh1tm1b(KOMP)Wtsi HOM   Early adult 4.34×10-08
decreased thigmotaxis Myh1tm1b(KOMP)Wtsi HOM Early adult 3.01×10-08
decreased urine magnesium level Myh1tm1b(KOMP)Wtsi HOM Early adult 6.72×10-42
decreased leukocyte cell number Myh1tm1b(KOMP)Wtsi HOM Early adult 4.69×10-07
increased hemoglobin content Myh1tm1b(KOMP)Wtsi HOM Early adult 3.39×10-05
decreased grip strength Myh1tm1b(KOMP)Wtsi HOM Early adult 3.82×10-20
abnormal bone structure Myh1tm1b(KOMP)Wtsi HOM Early adult 6.60×10-11
decreased bone mineral density Myh1tm1b(KOMP)Wtsi HOM Early adult 1.57×10-28
abnormal auditory brainstem response Myh1tm1b(KOMP)Wtsi HOM   Early adult 2.63×10-08
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 urine creatinine level Myh1tm1b(KOMP)Wtsi HOM Early adult 1.08×10-33
increased total body fat amount Myh1tm1b(KOMP)Wtsi HOM   Early adult 6.60×10-06
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 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

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
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 0.56% (3 of 534)
aorta 0.19% (1 of 540)
brain 0.94% (5 of 533)
brainstem 0.38% (2 of 529)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 525)
cerebellum 0.55% (3 of 544)
cerebral cortex 0.38% (2 of 533)
epididymis 14.18% (19 of 134)
esophagus 1.63% (6 of 369)
eye 0.0%
heart 0.19% (1 of 522)
hippocampus 0.37% (2 of 545)
hypothalamus 0.38% (2 of 532)
kidney 4.79% (26 of 543)
large intestine 5.31% (28 of 527)
liver 0.0%
lower urinary tract 0.19% (1 of 529)
lung 0.37% (2 of 536)
lymph node 0.18% (1 of 544)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.37% (2 of 537)
ovary 0.18% (1 of 543)
oviduct 0.0%
pancreas 0.96% (5 of 520)
peripheral nervous system 0.37% (2 of 541)
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 1.86% (10 of 537)
skeletal muscle 0.0%
skin 0.19% (1 of 533)
small intestine 5.01% (27 of 539)
spinal cord 0.55% (3 of 543)
spleen 0.38% (2 of 531)
stomach 3.77% (20 of 530)
striatum 0.37% (2 of 535)
submandibular gland 0.78% (1 of 128)
testis 1.13% (6 of 530)
thalamus 0.0%
thymus 0.19% (1 of 534)
thyroid gland 3.01% (16 of 532)
trachea 0.56% (3 of 535)
urinary bladder 0.0%
uterus 0.38% (2 of 527)
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)
brain 1.23% (5 of 408)
dorsal root ganglion 2.08% (1 of 48)
ear 0.24% (1 of 420)
embryo 0.49% (2 of 406)
eye 0.0%
footplate 0.23% (1 of 432)
forebrain 0.23% (1 of 426)
forelimb 0.0%
fronto-nasal process 1.89% (1 of 53)
handplate 0.24% (1 of 420)
head 1.14% (5 of 439)
heart 0.23% (1 of 432)
hindbrain 1.23% (5 of 405)
hindlimb 0.25% (1 of 402)
liver 0.0%
lung 0.24% (1 of 424)
mandibular process 0.24% (1 of 422)
maxillary process 0.24% (1 of 419)
midbrain 0.23% (1 of 426)
nose 1.41% (1 of 71)
oral cavity 0.24% (1 of 412)
skin 0.24% (1 of 418)
spinal cord 0.0%
tail 0.0%
tail somite group 0.24% (1 of 420)

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 Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Forepaw

15 Images

Sleep Wake

Wake state (bmp file)

10 Images

Adult LacZ

LacZ Images Section

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

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

6 Images

Electroretinography 2

Rod and cone PDF

3 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
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis, Foot dorsiflexor weakness, Proximal muscle weakness, Respiratory insufficien... OMIM:617087
Neuronopathy, Distal Hereditary Motor, Type Viii
Hip contracture, Kyphosis, Nonprogressive muscular atrophy, Distal muscle weakness, Scoliosis, Sp... OMIM:600175
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Flexion contracture, Rimmed vacuoles, Increased variability in muscle ... OMIM:300718
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Generalized amyotrophy, Dysphagia, Myo... OMIM:618323
Inclusion Body Myositis
Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy, Proximal muscle weakness, Dysphagia OMIM:147421
Bethlem Myopathy 2
Kyphosis, Flexion contracture, Increased variability in muscle fiber diameter, Scoliosis, Muscle ... OMIM:616471
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Skeletal muscle atrophy, Lower limb muscle weakness, Scoliosis OMIM:611225
Facial Onset Sensory And Motor Neuronopathy
Dysphagia, Skeletal muscle atrophy, Muscle weakness ORPHA:85162
Nemaline Myopathy 7
Nemaline bodies, Kyphoscoliosis, Lumbar hyperlordosis, Gowers sign, Weakness of facial musculatur... OMIM:610687
Myopathy, Spheroid Body
Distal muscle weakness, Neck flexor weakness, Muscle weakness, Proximal muscle weakness, Dysphagi... OMIM:182920
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Distal muscle weakness, Increased variability in muscle fi... OMIM:619042
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Nephrolithiasis, Aminoaciduria, Decreased glomerular filtration... ORPHA:18
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Familial Hypocalciuric Hypercalcemia
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Lipoma, C... ORPHA:405
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Kyphoscoliosis, Gowers sign, Flexion contracture, Type 1 muscle... OMIM:609285
Myopathy, Distal, 4
Proximal muscle weakness, Abnormality of the calf musculature, Muscle weakness, Distal upper limb... OMIM:614065
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Increased va... ORPHA:399058
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Kyphosis, Bulbar palsy, Gowers sign, Proximal muscle weakness in lower limbs, Lo... OMIM:615290
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Autosomal Dominant Hypocalcemia
Reduced bone mineral density, Depression, Anxiety, Fatigable weakness, Hypercalciuria, Optic atro... ORPHA:428
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Kyphoscoliosis, Lower limb amyotrophy, Dysphagia, Knee flexion contracture, Upper limb amyotrophy... ORPHA:496689
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Fanconi Renotubular Syndrome 2
Osteopenia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insufficiency, Proximal ... OMIM:613388
Myopathy, Centronuclear, 2
Kyphosis, Respiratory insufficiency due to muscle weakness, Gowers sign, Flexion contracture, EMG... OMIM:255200
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Parastremmatic Dwarfism
Kyphosis, Short neck, Scoliosis, Flexion contracture OMIM:168400
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Increased endomysial connective tissue, ... OMIM:618484
Vacuolar Neuromyopathy
Distal muscle weakness, Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Neck flex... OMIM:601846
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Kyphosis, Diaphragmatic weakness, Increased endomysial connective tissue, Abnormal m... ORPHA:75840
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Gowers sign, Internally nucleated skeletal muscle fibers, Proximal muscle weakness in l... OMIM:618138
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Lumbar hyperlordosis, Abnormality of the shoulder girdle musculature, Thoracic scoliosis, Left ve... ORPHA:206546
Dent Disease 1
Renal phosphate wasting, Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabec... OMIM:300009
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Scoliosis, Congenital muscular dystrophy, Fatty r... OMIM:613204
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities,... OMIM:606612
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Increased endomysial connective tissue, Spinal rigidity, Flexion contracture, Muscular dystrophy,... OMIM:617072
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... OMIM:308990
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Myofibrillar Myopathy 11
Gowers sign, Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased v... OMIM:619178
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Kyphosis, Diaphragmat... OMIM:181405
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Kyphoscoliosis, Distal muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy, Proximal mu... OMIM:605588
X-Linked Charcot-Marie-Tooth Disease Type 4
Distal muscle weakness, Kyphosis, Skeletal muscle atrophy, Scoliosis ORPHA:101078
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... OMIM:608358
Tempi Syndrome
Polycythemia, Abnormality of the kidney, Increased hematocrit ORPHA:284227
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Kyphoscoliosis, Increased endomysial connective tissue, Flexion contracture, Congenital muscular ... OMIM:607855
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis, Proximal amyotrophy, Spinal muscular atrophy OMIM:271200
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal potassium wasting, Renal magnesium wasting, Self-biting OMIM:618314
Dent Disease
Hyperuricosuria, Glycosuria, Hematuria, Thin bony cortex, Proteinuria, Proximal tubulopathy, Rena... ORPHA:1652
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Osteomalacia, Renal insufficiency, Proteinu... OMIM:134600
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Recurrent urinary tract infection... OMIM:248190
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Renal tubular acidosis, Polyuria,... OMIM:248250
East Syndrome
Sensorineural hearing impairment, Action tremor, Renal magnesium wasting, Renal sodium wasting, E... ORPHA:199343
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Bethlem Myopathy
Multiple joint contractures, Quadriceps muscle weakness, Achilles tendon contracture, Flexion con... ORPHA:610
Myopathy, Myofibrillar, 7
Multiple joint contractures, Nemaline bodies, Lumbar hyperlordosis, Spinal rigidity, Flexion cont... OMIM:617114
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis, Distal upper limb amyotrophy, Distal lower limb amyotrophy ORPHA:101075
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Weakness of facial musculature, Increased variability in muscle fibe... ORPHA:536516
Abcd Syndrome
Polycythemia, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hearing impair... OMIM:600501
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Optic atrophy, Renal Fanconi syndrome, Prot... ORPHA:436271
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Failure to thrive, Scoliosis, Myopathy OMIM:618234
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Renal tubular acidosis, Osteopenia, Glycosuria, Nephropathy, Hypercal... ORPHA:2088
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Restrictive partial external ophthalmoplegia, Congenital fibrosis of extraocular muscles OMIM:609384
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Opisthotonus OMIM:250800
Gaisböck Syndrome
Increased hematocrit, Elevated plasma cell count, Anxiety, Gout, Increased mean corpuscular hemog... ORPHA:90041
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Muscle fiber necrosis, Kyphosis, Respiratory insufficiency due to muscle weakness, S... OMIM:254090
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Wilson Disease
Glycosuria, Tremor, Proteinuria, Limb dystonia, Renal tubular dysfunction, Nephrolithiasis, Decre... OMIM:277900
Brown-Vialetto-Van Laere Syndrome 2
Kyphoscoliosis, Scoliosis, Limb muscle weakness, Dysphagia, Neck muscle weakness, Facial palsy, B... OMIM:614707
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Skeletal muscle atr... OMIM:618291
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Increased endomysial connective tissue, Flexion contracture, Minicore myopathy, Short n... ORPHA:178148
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycem... ORPHA:263455
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis, Ophthalmoparesis, Muscle weakness, Arthrogryposis multiplex congenita, Proxi... OMIM:617143
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Sensorineural hearing impairment, Recurrent fractures, Rickets, Glycosuria, Optic atrophy, Optic ... OMIM:268315
Typical Nemaline Myopathy
Facial diplegia, Nemaline bodies, Kyphosis, Spinal rigidity, Flexion contracture, Increased varia... ORPHA:171436
Glut1 Deficiency Syndrome 2
EEG abnormality, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reticulocytosis, Dyston... OMIM:612126
Fetal Akinesia Deformation Sequence 4
Kyphosis, Flexion contracture, Short neck, Camptodactyly, Arthrogryposis multiplex congenita, Ske... OMIM:618393
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Renal potassium wasting, Nephrocalcinosis, Renal magnesium wasting ORPHA:564178
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Glycosuria, Athetosis, Type I diabetes mellitus, Hyperglycemia, Interictal epileptifor... OMIM:618857
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Respiratory insufficiency due to muscle weakness, Spinal rigidity, Weakness of facial m... ORPHA:352447
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Glycosuria, Hypoglycemia, Proteinuria, Diabetes mellitus, Hyperphosphaturia, Nephr... OMIM:616026
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, St... OMIM:618913
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal muscle weakness, Kyphoscoliosis, Proximal muscle weakness, Distal amyotrophy OMIM:607831
Poems Syndrome
Sclerosis of skull base, Sclerosis of foot bone, Papilledema, Polycythemia, Thrombocytosis, Lipod... ORPHA:2905
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis, Muscle weakness, Skeletal muscle hypertrophy ORPHA:99014
Sickle Cell Anemia
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... ORPHA:232
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Idiopathic Hypercalciuria
Renal calcium wasting, Osteopenia, Calcium oxalate nephrolithiasis, Osteoporosis, Hypercalciuria ORPHA:2197
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Short neck, Scoliosis ORPHA:2744
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... ORPHA:98855
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98863
Fumarase Deficiency
Optic atrophy, Reduced subcutaneous adipose tissue, Polycythemia, Aminoaciduria OMIM:606812
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephritis, Elevated circulating creat... OMIM:614817
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Distal muscle weakness, Scoliosis, Foot dorsiflexor weakness, Obesity, Ophthalmoplegia OMIM:618124
Fanconi-Bickel Syndrome
Renal tubular dysfunction, Reduced subcutaneous adipose tissue, Osteomalacia, Glycosuria, General... OMIM:227810
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Hypomagnesemia 2, Renal
Renal insufficiency, Chondrocalcinosis, Hypocalciuria, Renal magnesium wasting OMIM:154020
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Hyperlor... ORPHA:40
Gm1-Gangliosidosis, Type Iii
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Skeletal muscle atrophy OMIM:230650
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Sensorineural hearing impairment, Renal tubular dysfunction, Aminoaciduria, Glycosuria, Optic atr... OMIM:220110
Familial Renal Glucosuria
Renal tubular dysfunction, Recurrent urinary tract infections, Nephropathy, Glycosuria ORPHA:69076
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98853
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketonuria, Ketotic hypoglycemia, Glycosuria, Irritability ORPHA:2089
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Reduced bone mineral density, Microcytic anemia, Anemia, Throm... ORPHA:848
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, Pelvic girdle muscle weakness... OMIM:607155
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hypophosphatemic rickets, Chronic kidney disease, Bicarbonate-wasting re... ORPHA:3337
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Myofibrillar Myopathy 10
Kyphosis, Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertrop... OMIM:619040
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Richieri Costa-Da Silva Syndrome
Beaking of vertebral bodies, Kyphoscoliosis, Skeletal muscle hypertrophy, Asymmetric limb muscle ... ORPHA:3101
Glutathione Synthetase Deficiency
Hemolytic anemia, Intention tremor, Increased level of L-pyroglutamic acid in urine, Neutropenia OMIM:266130
Central Core Disease
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Kyphoscolios... ORPHA:597
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Elevated hemoglobin A1c, Abn... ORPHA:552
Sandhoff Disease
Kyphosis, Failure to thrive, Muscle weakness ORPHA:796
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Kyphoscoliosis, Abnormal muscle fiber morphology, Proximal muscle weakness, Weak... ORPHA:1145
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis, Congenital foot contractures, Distal amyotrophy ORPHA:3454
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia OMIM:222800
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy, Proteinuria, Arthrogryposis multi... OMIM:613404
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Aminoaciduria, Hypersegmentation of neutrophil nuclei OMIM:229100
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Brachyolmia Type 1, Hobaek Type
Kyphosis, Squared-off platyspondyly, Back pain, Short neck, Scoliosis, Intervertebral space narro... OMIM:271530
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Decreased body weight, Small for gestational age OMIM:618392
Ataxia-Oculomotor Apraxia Type 4
Kyphoscoliosis, Muscular dystrophy, Progressive distal muscular atrophy, Obesity, Distal lower li... ORPHA:459033
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive, Facial myokymia OMIM:620007
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Kyphoscoliosis, First dorsal interossei muscle weakness, Distal mu... OMIM:619574
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Hemolytic anemia, Renal insufficiency, Emotional lability, Reticu... OMIM:300653
Tyrosinemia Type 1
Rickets of the lower limbs, Generalized aminoaciduria, Splenomegaly ORPHA:882
Mitochondrial Myopathy And Sideroblastic Anemia
Generalized limb muscle atrophy, Kyphosis, Scoliosis, Myopathy ORPHA:2598
Marinesco-Sjogren Syndrome
Kyphosis, Failure to thrive, Flexion contracture, Rimmed vacuoles, Scoliosis, Progressive muscle ... OMIM:248800
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... OMIM:617519
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Aminoaciduria ORPHA:33574
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Kyphosis, Short neck, Scoliosis, Arthrogryposis multiplex congenita, Skeletal mu... OMIM:611890
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Supernumerary vertebral ossification centers, Scoliosis,... OMIM:609813
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Diaphragmatic weakness, Hand muscle atrophy, Scoliosis, Dysphagia, Proximal muscle weak... OMIM:211530
Combined Oxidative Phosphorylation Deficiency 14
EEG abnormality, Aminoaciduria, Hearing impairment, Anemia, Thrombocytopenia OMIM:614946
Hypermanganesemia With Dystonia 1
Polycythemia, Tremor, Dystonia OMIM:613280
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age ORPHA:85288
Mitochondrial Dna Depletion Syndrome 11
Kyphosis, Spinal rigidity, Progressive external ophthalmoplegia, Facial palsy, Generalized amyotr... OMIM:615084
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Kyphosis, Failure to thrive, Flexion contracture OMIM:618237
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Cognitive impairment, Hemolytic anemia, Microcytic anemia, Ane... ORPHA:846
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Nephrolithiasis, Osteopenia, Osteoporosis, Hypercalciuria, Increased sus... OMIM:612286
Renal Glucosuria
Polyuria, Glycosuria, Enuresis nocturna OMIM:233100
Livedoid Vasculopathy
Leukocytosis, Polycythemia, Abnormality of the peripheral nervous system, Atrophic scars, Pancyto... ORPHA:542643
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Hematuria, Proteinuria, Renal insufficiency, Acute kidney injury, Mic... ORPHA:54057
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:30925
Cataract 47
Glycosuria OMIM:612018
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Nep... ORPHA:2298
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Urinary bladder sphincter dysfunction, Abnormal motor evoked po... ORPHA:320401
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy, Kyphosis ORPHA:1875
Ullrich Congenital Muscular Dystrophy 2
Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter, Congenital m... OMIM:616470
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis, Aminoaciduria OMIM:204730
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Galactosemia Iii
Sensorineural hearing impairment, Aminoaciduria, Galactosuria, Splenomegaly OMIM:230350
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Leukopenia, Polyuria, Hyperechogenic kidneys, Proteinuria, Diabetes melli... OMIM:613845
Myasthenia Gravis
Rheumatoid arthritis, Glycosuria, Hemolytic anemia, Pure red cell aplasia, Hearing impairment ORPHA:589
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia, Distal renal tubular aci... OMIM:611590
Camptodactyly-Taurinuria Syndrome
Camptodactyly of toe, Camptodactyly of finger, Increased urinary taurine, Aminoaciduria ORPHA:1325
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Nephrolithiasis, Osteopenia, Osteoporosis, Increased susceptibility to f... OMIM:612287
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossifi... OMIM:300554
Proximal Renal Tubular Acidosis
Nephrolithiasis, Aminoaciduria, Reduced bone mineral density, Hyperuricosuria, Glycosuria, Global... ORPHA:47159
Gitelman Syndrome
Chondrocalcinosis, Polyuria, Hypocalciuria, Nocturia, Renal potassium wasting, Enuresis, Renal ma... OMIM:263800
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive, Upper limb hypertonia ORPHA:319199
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Splenomegaly, Osteopetrosis, Anemia, Hepatosplenomegaly, Reticulocytosis, Op... OMIM:611490
Neonatal Severe Primary Hyperparathyroidism
Recurrent fractures, Aminoaciduria, Splenomegaly ORPHA:417
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Glucose/Galactose Malabsorption
Abnormal oral glucose tolerance, Glycosuria OMIM:606824
Infantile Nephropathic Cystinosis
Renal tubular dysfunction, Aminoaciduria, Cognitive impairment, Glycosuria, Low-molecular-weight ... ORPHA:411629
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... OMIM:618849
Familial Expansile Osteolysis
Hydroxyprolinuria, Conductive hearing impairment, Thin bony cortex, Pathologic fracture, Osteolysis OMIM:174810
Multiple Acyl-Coa Dehydrogenase Deficiency
Abnormal pinna morphology, Renal cortical cysts, Glycosuria, Hypoglycemia, Generalized aminoacidu... OMIM:231680
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Renal tubular dysfunction, Glucose intolerance, Elevated hemoglobin A1c, Glycosuria, Tremor, Irri... OMIM:616539
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Reduced bone mi... ORPHA:231222
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Hemoglobinuria, Leukopenia, Reticulocytosis, Glycosuria, Abnormal erythro... ORPHA:447
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Facial diplegia, Sensorineural hearing impairment, Aminoaciduria, Methylmalonic aciduria, Athetos... OMIM:612073
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity, Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:616756
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Macroglossia, Scoliosis, Dysphagia, Achalasia ORPHA:79107
Hypophosphatasia, Infantile
Craniosynostosis, Decreased calvarial ossification, Phosphoethanolaminuria, Hypercalciuria, Nephr... OMIM:241500
Cranioectodermal Dysplasia 1
Protruding ear, Chronic kidney disease, Inguinal hernia, Stage 1 chronic kidney disease, Osteopor... OMIM:218330
Dent Disease 2
Chronic kidney disease, Aminoaciduria, Cognitive impairment, Low-molecular-weight proteinuria, Hy... OMIM:300555
Dermotrichic Syndrome
EEG abnormality, Aminoaciduria, Macrotia, Anemia, Aganglionic megacolon ORPHA:99688
Cystinuria
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... OMIM:220100
Cystinosis, Nephropathic
Nephrolithiasis, Hypophosphatemic rickets, Medullary nephrocalcinosis, Aminoaciduria, Splenomegal... OMIM:219800
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Iron deficiency anemia, Tooth abscess, Hyperphosphaturia, Rickets ORPHA:89937
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Sensorineural hearing impairment, Narcolepsy, Resting tremor, Depression, Mental deterioration, H... ORPHA:314404
Stiff-Person Syndrome
Agoraphobia, Exaggerated startle response, Opisthotonus, Depression, Anxiety, Diabetes mellitus, ... OMIM:184850
Congenital Fiber-Type Disproportion Myopathy
Flexion contracture of finger, Weakness of facial musculature, Fatigable weakness of bulbar muscl... ORPHA:2020
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Abnormal renal tubular resorption, Hypercalciuria, Hypermagnesiuria, Neph... ORPHA:73224
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Kyphosis, Platyspondyly, Thoracolumbar scoliosis, Knee flexion contracture OMIM:313420
Sialidosis Type 2
Kyphosis, Skeletal muscle atrophy, Muscle weakness, Flexion contracture ORPHA:87876
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Flexion contracture, Anisocytosis, Camptodactyly, Renal hypoplasia, 3-Methylglutac... OMIM:604273
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Hypophosphatemic rickets, Osteomalacia, Rickets OMIM:193100
Central Diabetes Insipidus
Failure to thrive, Polydipsia, Weight loss ORPHA:178029
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sensorineural hearing impairment, Sideroblastic anemia, Aminoaciduria, Optic atrophy, Diabetes me... OMIM:249270
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Kyphosis, Scoliosis ORPHA:276630
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Harderoporphyria
Splenomegaly, Increased urinary porphobilinogen, Hemolytic anemia, Increased urine harderoporphyr... OMIM:618892
Duodenal Neuroendocrine Tumor
Increased hematocrit, Hydronephrosis, Iron deficiency anemia ORPHA:100076
Mcdonough Syndrome
Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Cachexia ORPHA:2471
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Sensorineural hearing impairment, Narcolepsy, Depression, Memory impairment, Optic atrophy, Dementia OMIM:604121
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Limb muscle weakness, Lower limb muscle weakness, Scoliosis OMIM:614409
Cystinosis
Failure to thrive, Polydipsia, Muscle weakness, Myopathy ORPHA:213
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Cervical spinal canal stenosis, Scoliosis, Obesity, Scheuermann-like vertebral changes OMIM:301900
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Action tremor, Flexion contracture, Abnormal autonomic nervous ... ORPHA:99027
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis, Bilateral sensorineural... OMIM:602722
Von Hippel-Lindau Disease
Elevated urinary catecholamines, Papilledema, Polycythemia, Anxiety, Multiple renal cysts, Renal ... ORPHA:892
Seckel Syndrome 10
Glucose intolerance, Elevated hemoglobin A1c, Glycosuria, Impaired glucose tolerance, Diabetes me... OMIM:617253
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Hemolytic anemia, Exercise-induce... OMIM:232800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Micropenis, Craniosynostosis, Osteopenia, Hypospadias, Hypercalciuria, Low-set ears OMIM:614732
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Kyphosis, Scoliosis, Hyperlordosis, Dysphagia, Facial p... OMIM:128100
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Glycosuria, Abnormal urine potass... ORPHA:411634
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, Hearing impairment, Aminoaciduria, Irritability OMIM:609560
Cdkl5-Deficiency Disorder
Kyphosis, Poor head control, Scoliosis ORPHA:505652
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis, Muscle weakness ORPHA:85317
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Camptodactyly of finger, Acute rhabdomyolysis, Scoliosis, Abnormality of the cervical s... ORPHA:48431
Familial Isolated Hyperparathyroidism
Osteopenia, Chondrocalcinosis, Hypercalciuria, Generalized osteoporosis, Renal insufficiency, Hyp... ORPHA:99879
Stimmler Syndrome
Type II diabetes mellitus, Aminoaciduria, Abnormal dental enamel morphology ORPHA:3199
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly ORPHA:79238
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossifi... OMIM:241530
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Myoglobinuria, Hemolytic anemia, Tremor, Renal insufficiency,... ORPHA:713
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Mental deter... ORPHA:206443
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Hypochromic microcytic anemia, Head ti... ORPHA:3240
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Glucose intolerance, Unilateral renal agenesis, Maturity-onset diabetes of the y... OMIM:137920
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Joint contracture of the hand, Small for gestational age, Scoliosis, Joint contracture ... ORPHA:352490
Schaaf-Yang Syndrome
Kyphosis, Flexion contracture, Scoliosis, Camptodactyly, Polyphagia, Arthrogryposis multiplex con... OMIM:615547
Von Hippel-Lindau Syndrome
Sensorineural hearing impairment, Polycythemia, Multiple renal cysts, Tinnitus, Renal cell carcinoma OMIM:193300
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia, Obesity, Truncal obesity OMIM:615986
Sialidosis Type 1
Sensorineural hearing impairment, EEG abnormality, Decreased nerve conduction velocity, Aminoacid... ORPHA:812
Winchester Syndrome
Kyphosis OMIM:277950
Senior-Boichis Syndrome
Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary differentiation, Hepatosple... ORPHA:84081
Hepatocellular Carcinoma
Type II diabetes mellitus, Polycythemia, Hypoglycemia, Thrombocytosis, Emotional lability, Anemia... ORPHA:88673
Acute Interstitial Pneumonia
Reduced hematocrit, Elevated circulating creatinine concentration ORPHA:79126
Dicarboxylic Aminoaciduria
Nephrolithiasis, Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria OMIM:222730
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Kyphosis, Flexion contracture, Weakness of facial musculature, Distal muscle wea... OMIM:301041
Lead Poisoning
Renal tubular dysfunction, Chronic kidney disease, Cognitive impairment, Depression, Abnormality ... ORPHA:330015
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... OMIM:615631
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis, Truncal obesity ORPHA:2429
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Scarring, Anemia, Abnormality of peripheral nerve conduction... ORPHA:90321
Lopes-Maciel-Rodan Syndrome
Dysphagia, Kyphosis, Scoliosis OMIM:617435
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... ORPHA:85450
Flynn-Aird Syndrome
Cachexia, Kyphosis, Skeletal muscle atrophy, Scoliosis ORPHA:2047
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Reticulocytosis, Erythroid hyperplasia, Splenomegaly OMIM:237800
Beckwith-Wiedemann Syndrome
Posterior helix pit, Enlarged kidney, Umbilical hernia, Omphalocele, Nephrolithiasis, Otosclerosi... ORPHA:116
Bruck Syndrome 1
Hip contracture, Kyphosis, Platyspondyly, Scoliosis, Elbow flexion contracture, Knee flexion cont... OMIM:259450
Tiglic Acidemia
Aminoaciduria OMIM:275190
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Schistocytosis, Tremor, Elevated circulating creatinine concentration,... OMIM:274150
Niemann-Pick Disease Type C
Narcolepsy, Apathy, Dementia, Axial dystonia, Splenomegaly, Depression, Mental deterioration, Hep... ORPHA:646
Wieacker-Wolff Syndrome
Kyphosis, Congenital foot contractures, Short neck, Scoliosis, Camptodactyly, Distal amyotrophy, ... OMIM:314580
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Ketonuria, Lower-limb joint contracture, Abnormality of the upper urin... ORPHA:99885
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Polydipsia, Muscle weakness ORPHA:251274
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Scoliosis, Arthrogryposis multiplex congenita, Small for gestational age OMIM:615834
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density, Leukopenia, Refrac... OMIM:231095
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Nephrolithiasis, Hypophosphatemic rickets, Reduced bone mineral density, Hyperphosphaturia, Osteo... ORPHA:157215
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Ogden Syndrome
Torticollis, Protruding ear, Global glomerulosclerosis, Inguinal hernia, Polycythemia, Maternal d... OMIM:300855
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Aminoaciduria, Decreased glomerular filtration rate, Papilledema, No... ORPHA:91500
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Pearson Syndrome
Neutropenia, Lacticaciduria, Splenomegaly, Anemia, Reticulocytosis, Glycosuria, Renal cyst, Hypop... ORPHA:699
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting OMIM:241519
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Kyphosis, Failure to thrive, Platyspondyly, Scoliosis OMIM:234250
Paget Disease Of Bone 5, Juvenile-Onset
Sensorineural hearing impairment, Recurrent fractures, Hydroxyprolinuria, Increased urine deoxypy... OMIM:239000
Ck Syndrome
Slender build, Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Metatropic Dysplasia
Kyphosis, Kyphoscoliosis, Relatively short spine, Flexion contracture, Platyspondyly, Scoliosis, ... OMIM:156530
Metatropic Dysplasia
Kyphosis, Camptodactyly of finger, Scoliosis, Abnormal form of the vertebral bodies, Abnormal int... ORPHA:2635
Arthrogryposis, Distal, Type 2A
Hip contracture, Recurrent fractures, Flexion contracture of finger, Joint contracture of the han... OMIM:193700
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Galactosemia I
Increased level of galactitol in urine, Aminoaciduria, Hemolytic anemia, Galactosuria, Albuminuria OMIM:230400
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Flexion contracture, Hypospadias, Low-set, posteriorly rotated ears, Microcytic anemia, HbH hemog... ORPHA:98791
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... ORPHA:35858
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potenti... OMIM:201050
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Joint contracture of the hand, Skeletal muscle hypertrophy, Camptodactyly of toe, Scoli... OMIM:300280
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... ORPHA:309246
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Flexion contracture of fin... ORPHA:101085
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Irritability, Splenomegaly, Extramedullary hematopoiesis, Anis... ORPHA:231226
Hereditary Methemoglobinemia
Methemoglobinemia, Limb dystonia, Athetosis ORPHA:621
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Upper limb hypertonia, Lower limb hypertonia OMIM:614898
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis OMIM:616963
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Hemoglobinuria, Poikilocytosis, Fava bean... OMIM:300908
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Hypocalciuric Hypercalcemia, Familial, Type Iii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Depressio... OMIM:600740
Mccune-Albright Syndrome
Renal phosphate wasting, Recurrent fractures, Monostotic fibrous dysplasia, Inappropriate sexual ... ORPHA:562
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Macrothrombocytopenia, Proteinuria, Neutropenia, Thrombocytopenia OMIM:603585
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Sensorineural hearing impairment, Joint stiffness, Abnormal hemoglobin, Self-injurious behavior, ... ORPHA:847
Leukocyte Adhesion Deficiency
Osteomyelitis, Hyperinsulinemic hypoglycemia, Leukocytosis, Coronal craniosynostosis, Polycythemi... ORPHA:2968
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Sensorineural hearing imp... ORPHA:289176
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Emotional lability, Anxiety, Diabetes mellitus ORPHA:3198
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Irritability, Splenomegaly, E... ORPHA:231214
Cockayne Syndrome A
Sensorineural hearing impairment, Hip contracture, Abnormal pinna morphology, Ivory epiphyses of ... OMIM:216400
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Polycythemia, Action tremor, Dystonia, Splenomegaly ORPHA:309854
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck, Macroglossia OMIM:616455
Phenylketonuria
Aminoaciduria ORPHA:716
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Progress... ORPHA:909
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Aminoaciduria, Umbilical hernia, Neutropenia, Anemia, Thrombocytopenia OMIM:614520
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Shashi-Pena Syndrome
Kyphosis, Scoliosis OMIM:617190
Cockayne Syndrome B
Sensorineural hearing impairment, Reduced subcutaneous adipose tissue, Abnormal pinna morphology,... OMIM:133540
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Adult Krabbe Disease
EEG abnormality, Mental deterioration, Progressive neurologic deterioration, Prolonged brainstem ... ORPHA:206448
Atypical Werner Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Increased bone mineral density, Renal neoplasm, Redu... ORPHA:79474
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Aminoaciduria OMIM:250620
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Scoliosis, Flexion contracture, Distal amyotrophy OMIM:609541
Hydroxykynureninuria
Aminoaciduria OMIM:236800
Familial Hyperaldosteronism Type I
Polydipsia, Muscle weakness ORPHA:403
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Infantile Krabbe Disease
Decreased nerve conduction velocity, Irritability, Inappropriate crying, Mental deterioration, Op... ORPHA:206436
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Progressive neurologic deterioration, Proximal tubulopathy OMIM:612075
Becker Nevus Syndrome
Kyphosis, Scoliosis, Spina bifida occulta, Shoulder girdle muscle atrophy ORPHA:64755
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dysphagia, Kyphosis, Limb hypertonia ORPHA:500180
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Osteoarthritis, Ost... OMIM:307800
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Gracile Syndrome
Aminoaciduria OMIM:603358
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... ORPHA:1215
Medullary Sponge Kidney
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria ORPHA:1309
Hereditary Orotic Aciduria
Oroticaciduria, Aminoaciduria, Splenomegaly, Abnormality of the ureter, Low-set, posteriorly rota... ORPHA:30
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Zimmermann-Laband Syndrome 3
Kyphosis, Flexion contracture OMIM:618658
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Cognitive impairment, Schistocytosis, Elevated circulating creatinine concentration, Acute kidney... OMIM:235400
Hypophosphatemic Rickets
Renal phosphate wasting, Joint stiffness, Fibrous dysplasia of the bones, Periapical tooth absces... ORPHA:437
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Aminoaciduria, Splenomegaly ORPHA:664
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Irritability, Thin ... OMIM:264700
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Low-set ears, Renal tubular acidosis, Renal tubular atrophy, Aminoaciduria, Reduced renal cortico... OMIM:208085
X-Linked Hypophosphatemia
Sensorineural hearing impairment, Renal phosphate wasting, Cellulitis, Craniosynostosis, Reduced ... ORPHA:89936
Pelger-Huet Anomaly
Kyphosis, Failure to thrive, Foot dorsiflexor weakness, Lower limb hypertonia OMIM:169400
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... OMIM:616689
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Shwachman-Diamond Syndrome 1
Neutropenia, Persistence of hemoglobin F, Pancytopenia, Anemia, Thrombocytopenia, Nephrocalcinosi... OMIM:260400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
EEG abnormality, Osteopenia, Ureteral stenosis, Osteoporosis, Hypercalciuria, Renal cyst, Low-set... OMIM:615398
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy, Polydipsia, Failure to thrive ORPHA:320
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Congenital Erythropoietic Porphyria
Splenomegaly, Osteopenia, Anisocytosis, Leukopenia, Increased urinary porphobilinogen, Osteoporos... ORPHA:79277
Whipple Disease
Cachexia, Polydipsia, Muscle weakness, Myositis ORPHA:3452
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Sensorineural hearing impairment, Intention tremor, Polyuria, Hypocalciuria, Renal sodium wasting... OMIM:612780
Crisponi Syndrome
Kyphosis, Camptodactyly of finger, Scoliosis, Flexion contracture ORPHA:1545
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Scoliosis, Ophthalmoparesis, Lower limb muscle weakness, Skeletal muscle atrophy ORPHA:88644
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:1548
Red Cell Phospholipid Defect With Hemolysis