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 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 leukocyte cell number Myh1tm1b(KOMP)Wtsi HOM Early adult 4.69×10-07
increased total body fat amount Myh1tm1b(KOMP)Wtsi HOM Early adult 9.68×10-05
decreased urine magnesium level Myh1tm1b(KOMP)Wtsi HOM Early adult 6.72×10-42
decreased prepulse inhibition Myh1tm1b(KOMP)Wtsi HOM   Early adult 1.04×10-08
decreased thigmotaxis Myh1tm1b(KOMP)Wtsi HOM Early adult 3.01×10-08
abnormal auditory brainstem response Myh1tm1b(KOMP)Wtsi HOM   Early adult 2.46×10-08
decreased bone mineral density Myh1tm1b(KOMP)Wtsi HOM Early adult 1.39×10-18
increased erythrocyte cell number Myh1tm1b(KOMP)Wtsi HOM   Early adult 4.34×10-08
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
decreased urine creatinine level Myh1tm1b(KOMP)Wtsi HOM Early adult 1.08×10-33
abnormal startle reflex Myh1tm1b(KOMP)Wtsi HOM Early adult 1.19×10-14
abnormal sleep behavior Myh1tm1b(KOMP)Wtsi HOM Early adult 1.45×10-14
increased hematocrit Myh1tm1b(KOMP)Wtsi HOM Early adult 3.39×10-07
decreased exploration in new environment Myh1tm1b(KOMP)Wtsi HOM Early adult 5.36×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland 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)
Esophagus N/A heterozygote 100% (2 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)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 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)
Ovary N/A heterozygote 50% (1 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
Skeletal muscle N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach 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)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Ambiguous
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 Skull Lateral Orientation

17 Images

X-ray

XRay Images Whole Body Lateral Orientation

17 Images

X-ray

XRay Images Forepaw

17 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

17 Images

Sleep Wake

Wake state (bmp file)

10 Images

Adult LacZ

LacZ Images Section

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

17 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
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal amyotrophy, Arthrogryposis multiplex congenita, Elbow flexion contracture, Nonprogressive ... OMIM:600175
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Myasthenic Syndrome, Congenital, 25, Presynaptic
Generalized amyotrophy, Myopathy, Dysphagia, Poor head control, Flexion contracture, Scoliosis, K... OMIM:618323
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness, Scapular wing... OMIM:616471
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy, Proximal muscle weakness, Distal muscle weakness, Dysphagia OMIM:147421
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy, Dysphagia, Muscle weakness ORPHA:85162
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Foot dorsiflexor weakness, Proximal muscle weakness, Respiratory insufficiency due to m... OMIM:617087
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Lower limb muscle weakness, Joint contracture, Scoliosis, Kyphosis OMIM:611225
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Lumbar hyperlordosis, Neck m... OMIM:610687
Distal Renal Tubular Acidosis
Osteomalacia, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Renal potassium was... ORPHA:18
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Lu... OMIM:619042
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Familial Hypocalciuric Hypercalcemia
Chondrocalcinosis, Hypocalciuria, Hypomagnesiuria, Osteomalacia, Nephrolithiasis, Parathormone-in... ORPHA:405
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Gowers sign, Neck muscle weakness, Limb muscle weakness... OMIM:609285
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Generalized muscle weakness, Proximal muscle weakness, Proximal amyotrophy, Dysphagia, Shoulder g... OMIM:606612
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Distal amyotrophy, Interosseus muscle atrophy, Spinal muscular atrophy, Distal lower limb muscle ... OMIM:607088
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Hip contracture, Spinal musc... OMIM:615290
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Knee flexion contracture, Kyphoscoliosis, Dysphagia, Low... ORPHA:496689
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Kypho... OMIM:618484
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Gowers sign, EMG: myopathic abnormalities, Proximal m... OMIM:255200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Autosomal Dominant Hypocalcemia
Optic atrophy, Nephrocalcinosis, Depression, Emotional lability, Fatigable weakness, Hypercalciur... ORPHA:428
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:613204
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Generalized amyotrophy, Increased endomysial conn... ORPHA:75840
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis, Flexion contracture OMIM:168400
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Proximal muscle weakness, Proximal amyotrophy, Hyperlordosis, Gowers sign, Scoliosis, Kyphosis, S... OMIM:617404
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ankle flexion c... OMIM:616668
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Ophthalmoparesis, Muscle fiber atrophy, Type 1 mu... OMIM:618654
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Elbow flexion contracture, Lumbar hyperlordosis, Abnormality of the s... ORPHA:206546
Myasthenic Syndrome, Congenital, 20, Presynaptic
Ophthalmoparesis, Scoliosis, Skeletal muscle atrophy, Neck muscle weakness, Fatigable weakness, P... OMIM:617143
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:617760
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Osteopenia, Proximal tubulopathy, Rickets, Gl... OMIM:613388
East Syndrome
Polydipsia, Renal magnesium wasting, Abnormal urinary electrolyte concentration, Action tremor, R... ORPHA:199343
X-Linked Charcot-Marie-Tooth Disease Type 4
Distal muscle weakness, Scoliosis, Kyphosis, Skeletal muscle atrophy ORPHA:101078
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Distal amyotrophy, Upper limb muscle weakness, Foot dorsiflexor weakness, Proximal muscle weaknes... OMIM:605588
Tempi Syndrome
Increased hematocrit, Polycythemia, Abnormality of the kidney ORPHA:284227
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Muscle fiber splitting, Scapular mu... OMIM:181405
Spinal Muscular Atrophy, Ryukyuan Type
Proximal amyotrophy, Spinal muscular atrophy, Kyphoscoliosis OMIM:271200
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Hypomagnesemia 3, Renal
Chronic kidney disease, Hypomature enamel, Hematuria, Macroscopic hematuria, Rickets, Renal magne... OMIM:248250
Fanconi Renotubular Syndrome 3
Aminoaciduria, Rickets, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creati... OMIM:615605
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:263400
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Kyphoscoliosis, Ophthalmoplegia, Resp... OMIM:607855
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hyperactivity, Polyuria, Self-biting, Renal potassium ... OMIM:618314
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect... OMIM:248190
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Attention deficit hyperactivity disorder, Facial myokymia, Kyphosis, Failure to thrive OMIM:620007
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Osteomalacia, H... ORPHA:1652
Anemia, Congenital Dyserythropoietic, Type Iv
Hypospadias, Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, R... OMIM:613673
Fanconi Renotubular Syndrome 1
Aminoaciduria, Rickets, Glycosuria, Osteomalacia, Low-molecular-weight proteinuria, Renal insuffi... OMIM:134600
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Kyphosis, Hyperactivity ORPHA:85288
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Myopathy, Myofibrillar, 7
Spinal rigidity, Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle f... OMIM:617114
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Scoliosis, Kyphosis ORPHA:101075
Bethlem Muscular Dystrophy
Neck muscle weakness, Gowers sign, Spinal rigidity, Rimmed vacuoles, Ankle flexion contracture, M... ORPHA:610
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m... ORPHA:536516
Brown-Vialetto-Van Laere Syndrome 2
Neck muscle weakness, Limb muscle weakness, Kyphoscoliosis, Aggressive behavior, Bulbar palsy, Dy... OMIM:614707
Abcd Syndrome
Abnormal auditory evoked potentials, Polycythemia, Hearing impairment, Aganglionic megacolon, Tot... OMIM:600501
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Ax... ORPHA:178148
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia, Tremor OMIM:250800
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Generalized amyotrophy, Failu... OMIM:254090
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital fibrosis of extraocular muscles, Restrictive partial external ophthalmoplegia, Kyphosis OMIM:609384
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Glut1 Deficiency Syndrome 2
Splenomegaly, Reticulocytosis, Irritability, Tremor, EEG abnormality, Dystonia, Hemolytic anemia,... OMIM:612126
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... ORPHA:171436
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Nephrocalcinosis, Renal potassium wasting, Renal magnesium wasting ORPHA:564178
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Hypophosphatemic rickets, Tremor, Protein... ORPHA:263455
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Generalized amyotrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial m... ORPHA:352447
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Hyperlysinemia, Type I
Hyperlysinuria, Short attention span, Cystinuria, Cognitive impairment, Hyperactivity, Anemia, Or... OMIM:238700
Cdkl5-Deficiency Disorder
Bruxism, Inappropriate laughter, Stereotypical hand wringing, Poor head control, Scoliosis, Kyphosis ORPHA:505652
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Optic atrophy, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinur... ORPHA:436271
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Muscular dystrophy, Shoulder girdle muscle weakness, Proximal muscle weakness, Calf... OMIM:607155
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Postprandial hyperglycemia, Osteopenia,... ORPHA:2088
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Kyphosis, Muscle weakness, Skeletal muscle hypertrophy ORPHA:99014
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98855
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Ketonuria, Glycosuria, Hyperglycemia, Interictal epileptiform activity,... OMIM:618857
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Proximal muscle weakness, Distal amyotrophy, Distal muscle weakness, Kyphoscoliosis OMIM:607831
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Progressive muscle weakn... OMIM:151800
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp... ORPHA:98863
Poems Syndrome
Polycythemia, Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base, Splenomega... ORPHA:2905
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Rickets, Hearing impairment, Glycosuria, Stage 5 chronic kidney disease, Sensorine... OMIM:268315
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Gaisböck Syndrome
Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra... ORPHA:90041
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Idiopathic Hypercalciuria
Osteopenia, Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis, Osteoporosis ORPHA:2197
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity, Foot dorsiflexor weakness, Ophthalmoplegia, Distal muscle weakness, Scoliosis, Kyphosis OMIM:618124
Hypomagnesemia 2, Renal
Chondrocalcinosis, Renal insufficiency, Renal magnesium wasting, Hypocalciuria OMIM:154020
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Rickets, Glycosuria, Hypoglycemia, Hyperphosphaturia, Proteinuri... OMIM:616026
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98853
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Irritability, Thrombocytopenia, Anemia, Red... ORPHA:848
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Central Core Disease
Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Kyphosc... ORPHA:597
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Microangiopathic hemolytic anemia, Confusion, Renal insufficiency, Reticuloc... ORPHA:54057
Wilson Disease
Osteomalacia, Limb dystonia, Dysphagia, Increased urinary copper concentration, Aminoaciduria, Ha... OMIM:277900
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Bruxism, Scoliosis, Kyphosis, Hyperactivity OMIM:300434
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... OMIM:614817
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Generalized aminoaciduria, Ketonuria, Beta 2-microglobulinuria, Glyco... OMIM:227810
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Mohr-Tranebjaerg Syndrome
Mental deterioration, Optic atrophy, Prelingual sensorineural hearing impairment, Focal dystonia,... ORPHA:52368
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Megaloblastic anemia, Elevated urinary formiminoglutamic acid level, Hypersegmenta... OMIM:229100
Sandhoff Disease
Muscle weakness, Kyphosis, Failure to thrive ORPHA:796
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... OMIM:618913
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Kyphosis OMIM:618453
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, EMG: myopathic abnormalities, Knee flexion ... OMIM:619040
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Absent brainstem auditory responses,... OMIM:617519
Renal Glucosuria
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria OMIM:233100
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Richieri Costa-Da Silva Syndrome
Vertebral wedging, Decreased muscle mass, Decreased anterioposterior diameter of lumbar vertebral... ORPHA:3101
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine, Hemolytic anemia, Intention tremor, Neutropenia OMIM:266130
Intellectual Disability-Developmental Delay-Contractures Syndrome
Congenital foot contractures, Distal amyotrophy, Scoliosis, Kyphosis ORPHA:3454
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketonuria, Glycosuria, Irritability, Ketotic hypoglycemia ORPHA:2089
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Kyphoscoliosis, Triceps we... OMIM:619574
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Hypoglyce... ORPHA:3337
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis, Myopathy, Generalized limb muscle atrophy ORPHA:2598
Mody
Nephropathy, Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hy... ORPHA:552
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Exercise-induced myoglobinuria, Renal insufficiency, Emotional lability, R... OMIM:300653
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Short neck, Camptodactyly, Arthrogryposis multiplex congenita, Kyphosis OMIM:618393
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Myopathy, Kyphosis, Failure to thrive OMIM:618237
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Failure to ... OMIM:248800
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Generalized amyotrophy, Ragged-red muscle fibers, Progressive external ophthalmo... OMIM:615084
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... OMIM:271530
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Rickets, Hepatosplenomegaly, Distal renal tubular acidosis, Reticulocytosis, An... OMIM:611590
Tyrosinemia Type 1
Generalized aminoaciduria, Rickets of the lower limbs, Splenomegaly ORPHA:882
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Optic atrophy, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Sensorine... OMIM:220110
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Kyphosis, Congenital contracture, Arthrogryposis multiplex congeni... ORPHA:352490
Gitelman Syndrome
Chondrocalcinosis, Hypocalciuria, Renal magnesium wasting, Enuresis, Polydipsia, Salt craving, Po... OMIM:263800
Familial Renal Glucosuria
Nephropathy, Glycosuria, Renal tubular dysfunction, Recurrent urinary tract infections ORPHA:69076
Central Diabetes Insipidus
Weight loss, Polydipsia, Failure to thrive, Anorexia ORPHA:178029
Hereditary Central Diabetes Insipidus
Weight loss, Polydipsia ORPHA:30925
Brown-Vialetto-Van Laere Syndrome 1
External ophthalmoplegia, Skeletal muscle atrophy, Neck muscle weakness, Hand muscle atrophy, Gen... OMIM:211530
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Muscular dystrophy, Obesity, Kyphoscoliosis, Distal lower li... ORPHA:459033
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Depression, Restlessness, Abnormal fear-induced behavior, Hearing impa... ORPHA:100924
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial diplegia, Short neck, Respira... OMIM:611890
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Fumarase Deficiency
Aminoaciduria, Optic atrophy, Elevated urine fumaric acid level, Polycythemia, Reduced subcutaneo... OMIM:606812
Polycythemia Vera
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Tinnitus, Thrombocytosis, Myelofibrosis ORPHA:729
Hypermanganesemia With Dystonia 1
Dystonia, Polycythemia, Tremor OMIM:613280
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Osteopenia, Hyperphosphaturia, Increased susceptibility to fractures, Ne... OMIM:612286
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Low-set ears, Nephropathy, Nephrocalcinosis, Aminoaciduria, Glycosuria, Renal tubular acidosis, P... OMIM:613404
Autosomal Recessive Spastic Paraplegia Type 53
Upper limb hypertonia, Kyphosis, Failure to thrive ORPHA:319199
Livedoid Vasculopathy
Polycythemia, Atrophic scars, Pancytopenia, Leukocytosis, Abnormality of the peripheral nervous s... ORPHA:542643
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Recurrent fractures, Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopeni... OMIM:611490
Mitochondrial Complex I Deficiency, Nuclear Type 11
Myopathy, Scoliosis, Kyphosis, Failure to thrive OMIM:618234
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Kyphoscoliosis, Flexion contr... OMIM:616470
O'Donnell-Luria-Rodan Syndrome
Self-injurious behavior, Skin-picking, Aggressive behavior, Kyphosis OMIM:618512
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Sensorineural hearing impairment OMIM:230350
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Camptodactyly-Taurinuria Syndrome
Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger ORPHA:1325
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Pancytopenia, Leukopenia, Proteinuria, Polyuria, ... OMIM:613845
Ck Syndrome
Slender build, Aggressive behavior, Hyperlordosis, Hyperactivity, Scoliosis, Kyphosis OMIM:300831
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Delayed ... OMIM:300554
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Osteoporosis OMIM:204730
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Kyphosis, Decreased body weight OMIM:618392
Ravine Syndrome
Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Recurrent fractures, Splenomegaly ORPHA:417
Infantile Nephropathic Cystinosis
Aminoaciduria, Rickets, Glycosuria, Polydipsia, Low-molecular-weight proteinuria, Hyperphosphatur... ORPHA:411629
Myasthenia Gravis
Rheumatoid arthritis, Glycosuria, Hearing impairment, Dysphagia, Pure red cell aplasia, Hemolytic... ORPHA:589
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Polydipsia, Glycosuria, Hypernatriuria, Low-molecular-weight pro... ORPHA:47159
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Osteopenia, Increased susceptibility to fractures, Hyperphosphaturia, Ne... OMIM:612287
Down Syndrome
Conductive hearing impairment, Polycythemia, Umbilical hernia, Type II diabetes mellitus, Acute m... ORPHA:870
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Bone Marrow Failure Syndrome 6
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope... OMIM:618849
Hypophosphatasia, Infantile
Unossified vertebral bodies, Nephrocalcinosis, Phosphoethanolaminuria, Increased susceptibility t... OMIM:241500
Beta-Thalassemia Intermedia
Osteopenia, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepa... ORPHA:231222
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Cystinosis
Polydipsia, Failure to thrive, Myopathy, Motor stereotypy, Muscle weakness ORPHA:213
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Scoliosis, Kyphosis, Obesity OMIM:616756
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Glycosuria, Glucose intolerance, Renal tubular dysfunction, Irritability, Tremor, Elevated hemogl... OMIM:616539
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Neuromuscular d... ORPHA:206443
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Aggressive behavior, Limb hypertonia, Hyperactivity, Dysphagia, Kyphosis, Impulsivity ORPHA:500180
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Glycosuria, Pancytopenia, Leukopenia, Erythroid hype... ORPHA:447
Developmental Malformations-Deafness-Dystonia Syndrome
Achalasia, Macroglossia, Scoliosis, Dysphagia, Kyphosis ORPHA:79107
Cataract 47
Glycosuria OMIM:612018
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Nephritis, Glycosuria, Insulin-resistant diabetes... ORPHA:2298
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Umbilical hernia, ... OMIM:300555
Cranioectodermal Dysplasia 1
Low-set ears, Chronic kidney disease, Renal magnesium wasting, Stage 1 chronic kidney disease, St... OMIM:218330
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Skeletal muscle atrophy, Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis OMIM:230650
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Kleefstra Syndrome 2
Self-injurious behavior, Scoliosis, Kyphosis OMIM:617768
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hyperphosphaturia, Tooth abscess, Iron deficiency anemia ORPHA:89937
Cystinosis, Nephropathic
Hematuria, Dysphagia, Aminoaciduria, Generalized aminoaciduria, Rickets, Polydipsia, Renal insuff... OMIM:219800
Sialidosis Type 2
Flexion contracture, Skeletal muscle atrophy, Kyphosis, Muscle weakness ORPHA:87876
Dermotrichic Syndrome
Aminoaciduria, Aganglionic megacolon, EEG abnormality, Anemia, Macrotia ORPHA:99688
Glucose/Galactose Malabsorption
Abnormal oral glucose tolerance, Glycosuria OMIM:606824
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Schaaf-Yang Syndrome
Failure to thrive in infancy, Obesity, Polyphagia, Skin-picking, Camptodactyly, Flexion contractu... OMIM:615547
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Hypercalciuria, Hypermagnesiuria, Hyperprost... ORPHA:73224
Congenital Fiber-Type Disproportion Myopathy
Hypoplasia of the musculature, Weakness of muscles of respiration, Hip contracture, Generalized m... ORPHA:2020
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Hyperactivity, Scoliosis, Arthrogryposis multiplex congenita, Small for gestational age OMIM:615834
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Scoliosis, Kyphosis ORPHA:276630
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Irritability, Joint co... OMIM:616881
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Increased HbA2 hemoglobin, Increased bone mineral density, Decreased me... OMIM:616943
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Abnormal auditory evoked potentials, Urinary retention, Abnormality o... ORPHA:99027
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Confusion, Elevated circulating creatinine concentration, Reti... OMIM:274150
Lopes-Maciel-Rodan Syndrome
Bruxism, Motor stereotypy, Scoliosis, Dysphagia, Kyphosis, Agitation OMIM:617435
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Anisocytosis, Lacticaciduria, Campt... OMIM:604273
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Optic atrophy, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Sen... OMIM:249270
Acquired Central Diabetes Insipidus
Weight loss, Polydipsia ORPHA:95626
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Muscular dystrophy, Kyphosis ORPHA:1875
Harderoporphyria
Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Increased urine hard... OMIM:618892
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Hip contracture, Knee flexion contracture, Thoracolumbar scoliosis, Kyphosis OMIM:313420
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E... OMIM:174000
Familial Isolated Hyperparathyroidism
Osteopenia, Nephrocalcinosis, Chondrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypercal... ORPHA:99879
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Polydipsia, Abnormal urinary electrolyte concentration,... ORPHA:84081
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Stiff-Person Syndrome
Depression, Opisthotonus, Exaggerated startle response, Anemia, Diabetes mellitus OMIM:184850
Mcdonough Syndrome
Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Kyphosis ORPHA:2471
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Obesity, Scheuermann-like vertebral changes, Scoliosis, Kyphosis OMIM:301900
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hypoglycemia, Ren... OMIM:231680
Lead Poisoning
Chronic kidney disease, Memory impairment, Depression, Imbalanced hemoglobin synthesis, Cranial h... ORPHA:330015
Bardet-Biedl Syndrome 9
Polyphagia, Obesity, Polydipsia, Truncal obesity OMIM:615986
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Rickets, Distal renal tubular acidosis, Hypercalciuria, Bilateral sensorineural... OMIM:602722
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Resting tremor, Focal EEG discharges with secondary generalizatio... ORPHA:3077
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Hearing impairment, Methylmalonic aciduria, Microcytic anemia, Facial diplegia, Se... OMIM:612073
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Chorioretinal scar, Aminoaciduria, Beta 2-microglobulinuria, Sterile pyuria, A... ORPHA:91500
Dystonia 1, Torsion, Autosomal Dominant
Multiple joint contractures, Hyperlordosis, Torticollis, Dysphagia, Facial palsy, Scoliosis, Kyph... OMIM:128100
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria, Facial diplegia, Hearing impairment, Irritability OMIM:609560
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis, Muscle weakness ORPHA:85317
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Increased mean corpuscular volume, Atresia of the external auditor... OMIM:300946
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Low-set ears, Osteopenia, Hypercalciuria, Micropenis, Craniosynostosis, Hypospadias OMIM:614732
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Absent brainstem auditory responses, Thrombocytopenia, Hypochromic microcytic an... ORPHA:3240
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of the cervical spine, Finger joint contracture, Acute rhabdomyolysis, Scoliosis, Kyp... ORPHA:48431
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia, Elevated circulating creatinine concentration, Hypercalciuria, Proximal re... OMIM:179830
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Polydipsia,... ORPHA:411634
Stimmler Syndrome
Abnormal dental enamel morphology, Type II diabetes mellitus, Aminoaciduria ORPHA:3199
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Reticulocytosis, Tremor, Myoglobinuria, Hemolytic anemia, Decreased hemoglob... ORPHA:713
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Spastic Paraplegia 46, Autosomal Recessive
Scoliosis, Kyphosis, Lower limb muscle weakness, Limb muscle weakness OMIM:614409
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly ORPHA:79238
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit ORPHA:79126
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Calcium nephrolithiasis, Delayed epiphyseal ossification, Rickets, Hypop... OMIM:241530
Ogden Syndrome
Low-set ears, Polycythemia, Umbilical hernia, Recurrent otitis media, Inguinal hernia, Irritabili... OMIM:300855
Seckel Syndrome 10
Insulin resistance, Glycosuria, Glucose intolerance, Elevated hemoglobin A1c, Diabetes mellitus, ... OMIM:617253
Beckwith-Wiedemann Syndrome
Nephropathy, Hearing impairment, Abnormal earlobe morphology, Congenital diaphragmatic hernia, Ne... ORPHA:116
Cockayne Syndrome Type 1
Optic atrophy, Foot joint contracture, Hearing impairment, Renal insufficiency, Abnormality of pe... ORPHA:90321
Rett Syndrome
Skeletal muscle atrophy, Bruxism, Stereotypical hand wringing, Cachexia, Scoliosis, Kyphosis OMIM:312750
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Weakness of facial musculature, Short neck, Dysphagia, Achilles tendon contractu... OMIM:301041
Winchester Syndrome
Kyphosis OMIM:277950
Von Hippel-Lindau Syndrome
Polycythemia, Sensorineural hearing impairment, Tinnitus, Multiple renal cysts, Renal cell carcinoma OMIM:193300
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis OMIM:230450
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Elevated circulating creatinine concentr... ORPHA:85450
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla... OMIM:601455
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Fasting hypoglycemia, Nephrolithiasis OMIM:222730
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Kyphosis, Truncal obesity ORPHA:2429
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Polydipsia, Muscle weakness ORPHA:251274
Sialidosis Type 1
Aminoaciduria, Urinary excretion of sialylated oligosaccharides, Decreased nerve conduction veloc... ORPHA:812
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis OMIM:237800
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Multiple joint contractures, Respira... OMIM:618291
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Aggressive behavior, Hyperactivity, Abdominal obesity, Macroglossia... OMIM:300354
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Self-mutilation, Aggressive behavior, Facial hypotonia, Abnormality of muscle size... ORPHA:364028
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Decreased nerve conduction velocity, Head tremor, Restless legs, Sensorineural heari... ORPHA:101085
Flynn-Aird Syndrome
Cachexia, Scoliosis, Kyphosis, Skeletal muscle atrophy ORPHA:2047
Arthrogryposis, Distal, Type 5
Firm muscles, Decreased muscle mass, Ophthalmoplegia, Distal arthrogryposis, Congenital finger fl... OMIM:108145
Wieacker-Wolff Syndrome
Distal amyotrophy, Arthrogryposis multiplex congenita, Congenital foot contractures, Short neck, ... OMIM:314580
Hypocalciuric Hypercalcemia, Familial, Type Iii
Chondrocalcinosis, Depression, Hypocalciuria, Multiple small medullary renal cysts, Osteomalacia,... OMIM:600740
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Zimmermann-Laband Syndrome 3
Flexion contracture, Kyphosis OMIM:618658
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Galactosemia I
Aminoaciduria, Galactosuria, Reduced erythrocyte galactose-1-phosphate uridylyltransferase activi... OMIM:230400
Cerebrotendinous Xanthomatosis
Optic atrophy, Osteopenia, Depression, Abnormal auditory evoked potentials, Abnormal motor evoked... ORPHA:909
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Upper limb hypertonia, Lower limb hypertonia OMIM:614898
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Pathologic fracture, Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperpho... ORPHA:157215
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Intellectual Developmental Disorder, Autosomal Dominant 23
Hyperlordosis, Compulsive behaviors, Scoliosis, Kyphosis, Sacral dimple OMIM:615761
Hall-Riggs Syndrome
Platyspondyly, Failure to thrive, Scoliosis, Kyphosis, Irregular vertebral endplates OMIM:234250
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelofibrosis, Refractory anemia, I... OMIM:231095
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hydroxyprolinuria, Hearing impairment, Increased bone mineral density, Sensorineural ... OMIM:239000
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,... OMIM:193700
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Cockayne Syndrome A
Optic atrophy, Atypical scarring of skin, Abnormal auditory evoked potentials, Limitation of join... OMIM:216400
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Arthrogryposi... OMIM:156530
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Generalized aminoaciduria, Hypochromic anemia, Rickets, Osteomal... ORPHA:289157
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Diabetes me... ORPHA:1215
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Flexion contracture, Distal amyotrophy, Scoliosis, Kyphosis OMIM:609541
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria, Thrombocytopenia, Neutropenia, Macrothrombocytopenia OMIM:603585
Familial Hyperaldosteronism Type I
Polydipsia, Muscle weakness ORPHA:403
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Polyuria OMIM:616963
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Exercise-induced myoglobinuria, Gout, R... OMIM:232800
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Aplasia/Hypoplasia of the earlobes, HbH hemoglobin, Microcytic anemia, Low-set, posteriorly rotat... ORPHA:98791
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Dystonia, Head titubation, Irritability OMIM:250620
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Maturity-onset diabetes of the young, El... OMIM:137920
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camptodactyly of finger, A... ORPHA:2635
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Cockayne Syndrome B
Optic atrophy, Atypical scarring of skin, Abnormal auditory evoked potentials, Limitation of join... OMIM:133540
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria, Umbilical hernia, Thrombocytopenia, Neutropenia, Anemia OMIM:614520
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis, Limb dystonia ORPHA:621
Acth-Independent Macronodular Adrenal Hyperplasia
Agitation, Skeletal muscle atrophy, Kyphosis, Truncal obesity OMIM:219080
Pearson Syndrome
Hearing impairment, Glycosuria, Pancytopenia, Renal insufficiency, Reticulocytosis, Splenomegaly,... ORPHA:699
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Hearing impairment, Persistence of hemoglobin... OMIM:617052
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Irritability, Joint contracture, EEG with generalized slow activity, Exagge... OMIM:617864
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Splenomegaly, Action tremor, Polycythemia ORPHA:309854
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Atypical Rett Syndrome
Restrictive behavior, Bruxism, Inappropriate laughter, Stereotypical hand wringing, Tongue thrust... ORPHA:3095
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Hip contr... OMIM:259450
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, EEG with burst suppression, Irritability, Impulsivity, Hypsarrhythmi... OMIM:620423
Von Hippel-Lindau Disease
Polycythemia, Elevated urinary catecholamine level, Papilledema, Multiple renal cysts, Renal cell... ORPHA:892
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Moderate albuminuria, Ketonuria, Hearing impairment... ORPHA:99885
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Polydipsia, Renal sodium wasting, Sensorineural hearing impairment, Salt... OMIM:612780
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Rickets, Osteomalacia, Hepatosplenomegaly, Enamel hypomineralization, Hy... OMIM:307800
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Ric... ORPHA:289176
Whipple Disease
Polydipsia, Myositis, Cachexia, Anorexia, Muscle weakness ORPHA:3452
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment, Exaggerated startle... ORPHA:309246
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Low-set ears, Self-injurious behavior, Cupped ear, Persistence of hemoglobin F, Recurrent hand fl... OMIM:617101
Uruguay Faciocardiomusculoskeletal Syndrome
Joint contracture of the hand, Kyphoscoliosis, Camptodactyly of toe, Left ventricular hypertrophy... OMIM:300280
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Optic atrophy, ... ORPHA:206436
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Polydipsia, Hyperphosphaturia, Splenomegaly, Hypercalciuria, Polyuria, Anemia, Rec... OMIM:239200
Zimmermann-Laband Syndrome 2
Macroglossia, Short neck, Kyphosis OMIM:616455
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Cachexia, Anorexia, Scoliosis, Kyphosis ORPHA:1969
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypoglycemia, Renal insufficiency, Anorexia, Lacticaciduria OMIM:619386
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Optic atrophy, Depression, Recurrent urinary tract infections, Joint sti... ORPHA:847
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyposthenuria, Hypernatriuria, Decreased serum creatinine, Irritability OMIM:300539
Leukocyte Adhesion Deficiency
Coronal craniosynostosis, Abnormality of neutrophil physiology, Polycythemia, Recurrent urinary t... ORPHA:2968
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Mental deterioration, Optic atrophy, Memory impairment, Depression, Resting tremor, Narcolepsy, H... ORPHA:314404
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy, Polydipsia, Failure to thrive ORPHA:320
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Urinary inconti... ORPHA:206448
Hereditary Orotic Aciduria
Aminoaciduria, Low-set, posteriorly rotated ears, Abnormality of the ureter, Oroticaciduria, Sple... ORPHA:30
Mccune-Albright Syndrome
Renal phosphate wasting, Aneurysmal bone cyst, Hearing impairment, Osteomalacia, Monostotic fibro... ORPHA:562
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Abnormal fear-induced behavior, Obesity, Biconcave vertebral bodies, Abd... OMIM:219090
Familial Cold Urticaria