Gene Summary

Name:
golgi associated, gamma adaptin ear containing, ARF binding protein 1
Synonyms:
4930406E12Rik

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
male infertility Gga1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal auditory brainstem response Gga1tm1.1(KOMP)Vlcg HOM   Early adult 2.90×10-06
small testis Gga1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal testis morphology Gga1tm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 50% (1 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 50% (1 of 2)
Olfactory lobe  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 50% (1 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 Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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)
blood 0.0%
bone marrow 0.0%
brain 0.94% (5 of 533)
brainstem 0.38% (2 of 529)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 525)
cecum 4.65% (16 of 344)
cerebellum 0.55% (3 of 544)
cerebral cortex 0.38% (2 of 533)
chest bone Unavailable
colon 13.11% (16 of 122)
diaphragm 0.0%
duodenum 4.13% (5 of 121)
epididymis 14.18% (19 of 134)
esophagus 1.63% (6 of 369)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.83% (1 of 121)
heart 0.19% (1 of 522)
hindlimb 0.0%
hippocampus 0.37% (2 of 545)
hypothalamus 0.38% (2 of 532)
ileum 14.75% (18 of 122)
jejunum 8.59% (11 of 128)
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.35% (1 of 282)
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)
parathyroid gland 0.19% (1 of 529)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.37% (2 of 541)
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 1.86% (10 of 537)
quadriceps 0.0%
sciatic nerve 0.0%
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)
stomach pyloric region 0.0%
striatum 0.37% (2 of 535)
sublingual gland 0.0%
submandibular gland 0.78% (1 of 128)
testis 1.13% (6 of 530)
thymus 0.19% (1 of 534)
thyroid gland 3.01% (16 of 532)
tongue 4.07% (5 of 123)
trachea 0.56% (3 of 535)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.38% (2 of 527)
vagina 0.0%
vas deferens 4.82% (17 of 353)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

51 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Hind Leg and Hip

9 Images

Human diseases caused by Gga1 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 Gga1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... ORPHA:1646
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size OMIM:619689
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility OMIM:261550
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment, Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Truncal obesity, Large for gestational age, Nonketotic hypoglycemia, Hy... ORPHA:293964
Short Stature Due To Ghsr Deficiency
Decreased body weight, Short stature, Hypoglycemia, Delayed puberty, Growth delay, Abnormality of... ORPHA:314811
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Deafness-Infertility Syndrome
Sensorineural hearing impairment, Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 46
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... OMIM:619095
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia, Intrauterine growth retardation, Severe short stature OMIM:223500
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Glycogen Storage Disease Vi
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Postnatal growth retard... OMIM:232700
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Growth delay, Delayed puberty, Short stature ORPHA:314802
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Large for gestational age, Truncal obesity OMIM:240900
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head OMIM:243060
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia, Short stature ORPHA:366
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia, Pituitary dwarfism, Severe postnatal growth retardation, Short stature OMIM:262700
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 64
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility OMIM:619696
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:614840
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Large for gestational age OMIM:601820
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Postnatal growth retardation, Short stature OMIM:616113
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Growth delay, Severe short stature OMIM:262400
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... ORPHA:324575
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short stature, Abnormal circulating selenium concentration, Fasting hypoglycemia, Growth delay, O... ORPHA:171706
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia, Hypoalbuminemia, Death in infancy, Intrauterine growth retardation OMIM:617156
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Early sperm... OMIM:619949
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Short stature, Truncal obesity, Hypoglycemia, Hyper... ORPHA:181393
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyperammo... ORPHA:6
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Bilateral breast hypoplasia, Hypo... ORPHA:52901
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Neonatal Hemochromatosis
Hypoglycemia, Increased circulating ferritin concentration, Increased serum iron ORPHA:446
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea... OMIM:618433
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility ORPHA:481
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellit... OMIM:618858
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus, Intrauterine grow... OMIM:613370
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia, Growth delay OMIM:616111
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Small for gestational age, Increased serum pyruvate, Elevated circulating sebacic... OMIM:615160
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Abnormality of the endocrine system, Hypoplasia of penis, Ambiguous gen... ORPHA:753
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Failure to thrive ORPHA:67046
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide l... OMIM:606176
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Decreased body weight, Short stature, Small for gestational age, Hypoglycemia, Neonatal hypoglyce... ORPHA:231140
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Increased C-peptide le... ORPHA:276580
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Increased C-peptide level, Reactive hypo... ORPHA:276556
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism OMIM:616030
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Failure to thrive, Hyperalaninemia, Small for gestational age OMIM:614702
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Abnormality of the urethr... ORPHA:752
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Short stature, Diabetic ketoacidosis, Small for ges... OMIM:262190
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... ORPHA:35878
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia, Short stature ORPHA:364
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Failure to thrive OMIM:610090
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Increased C-peptide le... ORPHA:276575
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperglycinemia, Death in infan... OMIM:619386
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Intrauterine growth retardation, ... OMIM:601410
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Glycogen Storage Disease Iii
Hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase concentration, Short stature OMIM:232400
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Short stature, Ketotic hypoglycemi... ORPHA:2089
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hypoglycemia, Abnormality of iron homeostasis, Incr... OMIM:231100
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia, Growth delay OMIM:306000
Combined Oxidative Phosphorylation Deficiency 40
Elevated circulating creatine kinase concentration, Neonatal death, Hypoglycemia, Death in infanc... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Elevated circulating creatine kinase concentration, Neonatal death, Hypoglycemia, Death in infanc... OMIM:618839
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Intrauterine growth retardation, Small for gestational age ORPHA:231147
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size OMIM:614858
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hypoglycemia, Decreased plasma free carnitine, Hyperalaninemia, Intrauterine g... OMIM:619048
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Death in childhood, Hypertaurinemia, Neonatal death, Hypoglycemia, Hyperglycin... OMIM:245400
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
2P21 Microdeletion Syndrome
Hypoglycemia, Failure to thrive, Hypocalcemia, Growth delay ORPHA:163693
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Failure to thrive, Hyperkalemia, Hyponatremia OMIM:614736
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... ORPHA:552
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating tyrosine concentration, Failure to thrive, Hypoargininemia, Abnormal circula... ORPHA:79096
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Decreased plasma carnitine ORPHA:79159
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Short stature, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:618120
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia, Failure to thrive OMIM:617872
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Failure to thrive, Intrau... ORPHA:26792
Mehmo Syndrome
Small for gestational age, Birth length less than 3rd percentile, Hypoglycemia, Delayed puberty, ... OMIM:300148
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hyperlipidemia, Short stature, Hypoglycemia, Delayed puberty, Growth delay ORPHA:369
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hyperammonemia, Elevated alpha-fetoprotein, Hypoglycemia, Conjugated hyperbili... OMIM:617049
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia, Failure to thrive, Methylmalonic acidemia, Dicarboxylic acidemia ORPHA:289504
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Failure to thrive, Hyperalaninemia OMIM:617950
Propionic Acidemia
Hypoglycemia, Hyperammonemia ORPHA:35
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Failure to thrive, Small for gestational age, Death in childhood, Elevated circulating creatine k... OMIM:619055
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Severe intrauterine growth retardation, Insulin resistance, Short stature, Sma... ORPHA:73272
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hyperammonemia ORPHA:664
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Elevated circulating creatine kinase concentration, Intrauterine growth retardation OMIM:618838
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Failure to thrive ORPHA:67048
Glycogen Storage Disease Ixc
Growth delay, Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia, Postnatal growth retardation OMIM:613027
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Impaired gluconeogen... OMIM:212140
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... OMIM:301077
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemic hypoglycemia, Increased C-peptide level, Large for gestational age, Neonatal hyp... ORPHA:79644
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Intrauterine growth retardation, Hyperammonemia OMIM:618253
Glycerol Kinase Deficiency
Small for gestational age, Short stature, Hypoglycemia, Hypertriglyceridemia, Growth delay OMIM:307030
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Riboflavin Deficiency
Hypoglycemia, Elevated circulating acylcarnitine concentration OMIM:615026
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Increased serum pyruvate OMIM:614741
Pituitary Hormone Deficiency, Combined, 2
Neonatal hypoglycemia, Hypoglycemic seizures, Short stature OMIM:262600
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Failure to thrive, Increased serum pyruvate, Hyperprolinemia, Death in infancy, Neonatal hypoglyc... OMIM:619046
Blue Diaper Syndrome
Increased body weight, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia, Recu... ORPHA:94086
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality OMIM:617519
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Pyruvate Dehydrogenase E3 Deficiency
Failure to thrive, Hyperammonemia, Hyperisoleucinemia, Hypoglycemia, Decreased plasma carnitine, ... ORPHA:2394
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Small for gestational age, Increased level of galactitol in ... ORPHA:79237
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Androgen Insensitivity, Partial
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Temple Syndrome
Type II diabetes mellitus, Postnatal growth retardation, Short stature, Small for gestational age... ORPHA:254516
Pyruvate Carboxylase Deficiency
Hypoglycemia, Increased serum pyruvate, Hyperalaninemia OMIM:266150
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia, Postnatal growth retardation, Small for gestational age, Short stature ORPHA:231137
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... ORPHA:71212
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia, Failure to thrive, Intrauterine growth retardation OMIM:618958
Glycogen Storage Disease Ixd
Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:300559
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Laron Syndrome
Severe short stature, Truncal obesity, Hypoglycemia, Delayed puberty, Hypercholesterolemia ORPHA:633
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... OMIM:308750
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Short stature, Glycosuria, Hypoglycemia, Large for gestational age, Diabetes me... OMIM:616026
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Intrauterine growth retardation, Increased serum pyruvate, Hyperprolinemia, Hyperglutaminemia, El... OMIM:619355
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Intrauterine growth retardation, Short stature ORPHA:48431
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... ORPHA:263455
Pituitary Stalk Interruption Syndrome
Failure to thrive, Short stature, Hypoglycemia, Death in infancy, Delayed puberty ORPHA:95496
Hsd10 Mitochondrial Disease
Hypoglycemia, Elevated circulating tiglylglycine concentration OMIM:300438
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Saccharopinuria
Hyperlysinemia, Hyperammonemia, Short stature, Abnormality of circulating enzyme level, Hypercyst... ORPHA:3124
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:600649
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia, Failure to thrive, Hyperammonemia OMIM:614739
Silver-Russell Syndrome 2
Neonatal hypoglycemia, Intrauterine growth retardation, Short stature OMIM:618905
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hyperammonemia, Cachexia, Elevated circulating creatine kinase concentration, Decreased plasma to... ORPHA:42
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Increased body weigh... ORPHA:2298
Hypoadrenocorticism, Familial
Hypoglycemia, Hyperkalemia, Hyponatremia OMIM:240200
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia OMIM:246900
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Hypoinsulinemia, Hypoglycemia, Reduced C-peptide level, Recurrent hypog... ORPHA:2126
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
47,Xyy Syndrome
Low-set ears, Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligos... ORPHA:8
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Transient hyperlipi... OMIM:255120
Insulinoma
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased body weight, Reactive hypoglycemia, No... ORPHA:97279
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hyperammonemia, Death in childhood, Hypoglycemia, Decreased plasma carnitine, Hyperuricemia OMIM:246450
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... ORPHA:1215
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Failure to thrive, Hyperglycemia OMIM:220111
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Decreased body weight, Small for gestational age, Severe postnatal growth retardation, Hypoglycem... ORPHA:391408
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Pancreatic And Cerebellar Agenesis
Failure to thrive, Hypoglycemia, Death in infancy, Diabetes mellitus, Hyperglycemia OMIM:609069
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypoketotic hypoglycemia, Failure to thrive ORPHA:5
Infantile Liver Failure Syndrome 2
Hypoglycemia, Hyperammonemia OMIM:616483
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Low-set ears, Testicular atrophy OMIM:601163
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hypoglycemia, Failure to thrive, Short stature OMIM:256810
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Low plasma citrulline, Hypoglycemia, Impaired gluconeogenesis OMIM:261680
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Hyperammonemia, Hypoglycemia, Hyperglycinemia, Methylmalonic acidemia OMIM:251000
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia, Short stature OMIM:248360
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Facial diplegia, Hypogonadism OMIM:160900
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperalaninemia, Hyperammonemia OMIM:615751
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia, Failure to thrive, Acute hyperammonemia OMIM:210200
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Elevated circulating creatine kinase concentration, Neonatal hypoglycemia, Hyperamm... OMIM:212138
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Mitochondrial Trifunctional Protein Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Small for ge... OMIM:609015
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hyperbilirubinemia, Hypoglycemia, Hypoalbuminemia, Growth delay OMIM:251880
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Failure to thrive, Hypocalcemia, Postnatal growth retardation OMIM:606407
Propionic Acidemia
Failure to thrive, Short stature, Hyperammonemia, Hypoglycemia, Hyperglycinemia OMIM:606054
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hyperammonemia, Elevated circulating creatine kinase concentration, Decreased plasma carnitine, N... OMIM:201475
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Glycosuria, Impaired glucose tol... ORPHA:2088
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Hypoglycemic seizures, Hyponatremia ORPHA:199296
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... OMIM:235200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Growth delay, Short stature, Elevated circulating creatine kinase concentratio... ORPHA:264580
Timothy Syndrome
Hypoglycemia, Hypocalcemia OMIM:601005
Glutaric Acidemia I
Hypoglycemia, Failure to thrive, Elevated circulating glutaric acid concentration OMIM:231670
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Postnatal growth retardation, Type II diabetes mellitus, Hypoinsulinemia ORPHA:453533
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Pos... OMIM:246200
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Growth delay, Small for gestational age, Short stature, Delayed puberty, Recurrent hypoglycemia, ... OMIM:616817
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Postnatal growth retardation, Short stature, Ketotic hypoglycemia, Increased body weight, Elevate... ORPHA:79240
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia, Transient hyperlipidemia ORPHA:156
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Acute hyperammonemia, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine... OMIM:210210
Maple Syrup Urine Disease
Hypoglycemia, Elevated plasma branched chain amino acids, Elevated circulating L-alloisoleucine c... OMIM:248600
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia, Hyperuricemia, Fasting hypoglyc... ORPHA:348
Glucocorticoid Deficiency 2
Recurrent hypoglycemia OMIM:607398
Classic Galactosemia
Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in... ORPHA:79239
Glutaric Acidemia Type 3
Failure to thrive, Abnormality of circulating enzyme level, Elevated circulating glutaric acid co... ORPHA:35706
Nephrotic Syndrome, Type 14
Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Obesity OMIM:600955
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia, Short stature ORPHA:436174
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated circulating cr... OMIM:608836
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia, Postnatal growth retardation, Intrauterine growth retardation, Small for gestationa... ORPHA:397590
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia OMIM:201910
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Elevated cre... ORPHA:99901
Cog8-Cdg
Hypoglycemia, Failure to thrive ORPHA:95428
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Failure to thrive OMIM:202200
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Death in childhood, Death in infancy OMIM:611126
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
D-Glyceric Aciduria
Hypoglycemia, Failure to thrive, Nonketotic hyperglycinemia, Growth delay OMIM:220120
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hypoketotic hypoglycemia, Elevated circulating ... ORPHA:228305
Bachmann-Bupp Syndrome
Hypoglycemia, Large for gestational age, Hyperbilirubinemia OMIM:619075
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Glycosuria, Neonatal death, Elevated circulating glutaric acid concentration OMIM:231680
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Small for gestational age, Hypoketotic hypoglycemi... ORPHA:26793
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Growth delay, Delayed puberty ORPHA:95619
Intellectual Developmental Disorder, Autosomal Dominant 35
Hypoglycemia, Intrauterine growth retardation OMIM:616355
Aromatase Deficiency
Ambiguous genitalia, female, Female infertility, Type II diabetes mellitus, Hypergonadotropic hyp... ORPHA:91
Smith-Kingsmore Syndrome
Hypoglycemia, Rhizomelia, Large for gestational age OMIM:616638
Adult Krabbe Disease
Erectile dysfunction, EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis ORPHA:2239
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Growth delay, Hypoglycemic seizures OMIM:231530
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Failure to thrive, Death in infancy, Increased circulating free fatty a... OMIM:610768
Pyruvate Carboxylase Deficiency
Failure to thrive, Hyperlysinemia, Hypoglutaminemia, Hyperammonemia, Increased serum pyruvate, Hy... ORPHA:3008
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... ORPHA:159
Arthrogryposis, Distal, Type 2A
Hearing impairment, Cryptorchidism, Abnormal auditory evoked potentials OMIM:193700
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia, Decreased plasma carnitine OMIM:201450
Glycogen Storage Disease Ia
Hyperlipidemia, Short stature, Hypoglycemia, Hyperuricemia, Delayed puberty, Fasting hypoglycemia... OMIM:232200
Congenital Disorder Of Glycosylation, Type Iie
Failure to thrive, Short stature, Elevated circulating creatine kinase concentration, Hypoglycemi... OMIM:608779
Wolfram Syndrome 1
Sensorineural hearing impairment, Testicular atrophy, Optic atrophy, Hypothyroidism, Diabetes mel... OMIM:222300
Beta-Ketothiolase Deficiency
Hyperammonemia, Hypoglycemia, Hyperuricemia, Weight loss, Hyperglycemia ORPHA:134
Hsd10 Disease, Infantile Type
Hypoglycemia, Hyperammonemia ORPHA:391428
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Sensorineural hearing impairment, Testicular atrophy, Hypergonadotropic hypogonadism, Primary ame... OMIM:157640
Cholera
Hypokalemia, Hypocalcemia, Miscarriage, Hypoglycemia, Abnormal blood ion concentration, Hyponatremia ORPHA:173
Silver-Russell Syndrome
Postnatal growth retardation, Short stature, Cachexia, Insulin resistance, Recurrent hypoglycemia... ORPHA:813
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Impotence, Abnormal autonomic nervous system physiology, Orthos... ORPHA:99027
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Failure to thrive, Hypoalbuminemia, Hyperalaninemia OMIM:618329
Visceral Steatosis, Congenital
Hypoglycemia, Hypocalcemia, Neonatal death OMIM:228100
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Hypokalemia, Insulin resistance, Diabetic ketoacidosis, Increased C-p... ORPHA:769
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia, Intrauterine growth retardation OMIM:617710
Mirage Syndrome
Decreased body weight, Short stature, Hypoglycemia, Hyponatremia, Intrauterine growth retardation... OMIM:617053
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... ORPHA:206443
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Hearing impairment, Male hypogonadism, Macrot... ORPHA:90321
Silver-Russell Syndrome 1
Fasting hypoglycemia, Intrauterine growth retardation, Small for gestational age OMIM:180860
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated circulating creatine k... ORPHA:26791
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... ORPHA:465508
Acute Adrenal Insufficiency
Failure to thrive, Increased circulating renin level, Hypoglycemia, Hyponatremia, Hyperuricemia, ... ORPHA:95409
Late-Onset Isolated Acth Deficiency
Failure to thrive, Hypoglycemia, Type I diabetes mellitus, Hyponatremia, Hypercalcemia, Hyperuric... ORPHA:199299
Aarskog-Scott Syndrome
Large earlobe, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, El... OMIM:305400
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated circulating creatine k... ORPHA:480864
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Dela... ORPHA:370
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine co... ORPHA:230
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia, Slender build OMIM:617600
Mogs-Cdg
Hydrocele testis, Sensorineural hearing impairment, Absent brainstem auditory responses, External... ORPHA:79330
Acth Deficiency, Isolated
Fasting hypoglycemia OMIM:201400
Congenital Disorder Of Glycosylation, Type It
Short stature, Elevated circulating creatine kinase concentration, Hypoglycemia, Delayed puberty,... OMIM:614921
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Failure to thrive, Intrauterine growth retardation, Short stature OMIM:618005
Familial Glucocorticoid Deficiency
Failure to thrive, Ketotic hypoglycemia, Hypoglycemic seizures, Hyponatremia, Weight loss, Hyperk... ORPHA:361
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Isolated Complex I Deficiency
Failure to thrive, Increased serum pyruvate, Hypoglycemia, Diabetes mellitus, Intrauterine growth... ORPHA:2609
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Glycosuria, Hypoglycemia, Decreased plas... ORPHA:3337
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Failure to thrive, Hyperkalemia, Hyponatremia ORPHA:90790
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypoglycemia, Elevated circulating acylcarnitine concentration, Elevated circulating creatine kin... OMIM:616878
Addison Disease
Failure to thrive, Increased circulating renin level, Hypoglycemia, Type I diabetes mellitus, Hyp... ORPHA:85138
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Orthostatic Hypotension 1
Neonatal hypoglycemia, Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Cockayne Syndrome A
Sensorineural hearing impairment, Thymic hormone decreased, Abnormal pinna morphology, Decreased ... OMIM:216400
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hypoketotic hypoglycemia, Eleva... ORPHA:157
Leprechaunism
Postprandial hyperglycemia, Failure to thrive, Severe intrauterine growth retardation, Hyperinsul... ORPHA:508
Glycogen Storage Disease Ib
Hyperlipidemia, Short stature, Hypoglycemia, Delayed puberty, Hyperuricemia OMIM:232220
Basilicata-Akhtar Syndrome
Neonatal hypoglycemia OMIM:301032
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Increased circulating renin level, Hyponatremia, Neonatal hypoglycemia, Hyperk... ORPHA:90791
Immunodeficiency, Common Variable, 10
Hypoglycemia OMIM:615577
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia, Growth delay, Intrauterine growth retardation, Elevated circulating glutar... ORPHA:66634
Trisomy 10P
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Absent gallbladder, Abnormal ... ORPHA:171929
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Neonatal hypoglycemia, Large for gestational age ORPHA:457485
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Hyperammonemia, Hypomethioninemia, Elevated circulating palmitoleylcarnitine c... ORPHA:79282
Leigh Syndrome
Failure to thrive, Hypoglycemia, Hyperalaninemia, Growth delay, Intrauterine growth retardation ORPHA:506
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia OMIM:229700
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive, Hypoglycemia, Hypertriglyceridemia, Neonatal hypoglycemia, Growth delay, Failu... OMIM:619418
Infantile Krabbe Disease
Optic atrophy, Hearing impairment, Decreased nerve conduction velocity, Prolonged brainstem audit... ORPHA:206436
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia, Obesity OMIM:608624
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Optic nerve hypoplasia, De... ORPHA:101085
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hyperammonemia, Hypoketotic hyp... ORPHA:228308
Tyrosinemia, Type I
Failure to thrive, Hypophosphatemic rickets, Elevated alpha-fetoprotein, Hypoglycemia, Hypermethi... OMIM:276700
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Failure to thrive OMIM:124000
Fructose Intolerance, Hereditary
Failure to thrive, Hypophosphatemia, Hyperbilirubinemia, Glycosuria, Hypoglycemia, Bicarbonaturia... OMIM:229600
Hereditary Fructose Intolerance
Hypophosphatemia, Reactive hypoglycemia, Hyperuricemia, Hypermagnesemia, Growth delay ORPHA:469
X-Linked Dominant Chondrodysplasia Punctata
Neonatal hypoglycemia, Severe postnatal growth retardation, Short stature ORPHA:35173
Hepatocellular Carcinoma
Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Hypoglycemia, Hypoalbuminemia, Hypona... ORPHA:88673
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Hypocalcemia, Failure to thrive in infancy ORPHA:746
Kabuki Syndrome 2
Decreased body weight, Short stature, Neonatal hypoglycemia, Postnatal growth retardation, Intrau... OMIM:300867
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Hyperlipidemia, Short stature, Hypoglycemia, Hypertriglyceridemia, Hypoglycemi... ORPHA:79259
Shigellosis
Hypoglycemia, Abnormal blood ion concentration, Failure to thrive in infancy, Hyponatremia ORPHA:810
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hypoglycemia, Growth delay, Short stature OMIM:616007
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
3-Hydroxy-3-Methylglutaric Aciduria
Hyperammonemia, Nonketotic hypoglycemia, Hyperuricemia, Recurrent hypoglycemia, Weight loss ORPHA:20
Immunodeficiency 59 And Hypoglycemia
Hypoglycemia, Short stature OMIM:233600
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Failure to thrive, Severe intrauterine growth retardation, Insulin resistance, Small for gestatio... ORPHA:96182
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:133540
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Failure to thrive, Hypocalcemia, Short stature, Small for gestational age, Hypogly... OMIM:613658
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia ORPHA:457279
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia, Intrauterine growth retardation ORPHA:565624
Cerebrotendinous Xanthomatosis
Cholelithiasis, Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction ve... ORPHA:909
Bannayan-Riley-Ruvalcaba Syndrome
Hypoglycemia, Cachexia, Short stature ORPHA:109
Sotos Syndrome
Neonatal hypoglycemia, Glucose intolerance, Increased body weight OMIM:117550
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia, Growth delay, Rhizomelia, Intrauterine growth retardation OMIM:616271
Mend Syndrome
Low-set ears, Cryptorchidism, Abnormal auditory evoked potentials ORPHA:401973
Mitochondrial Complex I Deficiency, Nuclear Type 1
Failure to thrive, Hypoglycemia, Death in infancy, Hyperalaninemia, Growth delay OMIM:252010
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent hypoglycemia, Failure to thrive, Hyponatremia ORPHA:293978
Alg12-Cdg
Failure to thrive, Hypocholesterolemia, Hypoalbuminemia, Hyponatremia, Recurrent hypoglycemia, In... ORPHA:79324
3-Methylglutaconic Aciduria Type 7
Neonatal hypoglycemia, Growth delay ORPHA:445038
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Male infertility, Hypogonadism, Abnormal testis morphology, Primary testicular failure ORPHA:85450
Sheehan Syndrome
Hypoglycemia, Obesity, Hyponatremia ORPHA:91355
X-Linked Intellectual Disability, Snyder Type
Low-set ears, Testicular atrophy, EEG abnormality, Hypospadias, Abnormality of the Leydig cells, ... ORPHA:3063
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Hearing impairment, Cryptorchidism, Male infertility OMIM:227650
Pituitary Apoplexy
Hypoglycemia, Hyponatremia ORPHA:95613
Glycogen Storage Disease Ic
Hypoglycemia, Hyperlipidemia, Hyperuricemia, Delayed puberty OMIM:232240
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Failure to thrive, Increased circulating renin level, Abnormal circulating cholesterol concentrat... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Failure to thrive, Increased circulating renin level, Abnormal circulating cholesterol concentrat... ORPHA:289548
Primary Ciliary Dyskinesia
Conductive hearing impairment, Female infertility, Male infertility, Hearing impairment, Abnormal... ORPHA:244
Deeah Syndrome
Decreased body weight, Short stature, Death in childhood, Death in adolescence, Death in infancy,... OMIM:619004
Holoprosencephaly
Hypoglycemia, Failure to thrive in infancy, Hyponatremia, Diabetes mellitus ORPHA:2162
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypoglycemia, Failure to thrive, Methylmalonic acidemia, Growth delay ORPHA:17
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia, Intrauterine growth retardation ORPHA:572798
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Hypercalcemia OMIM:131100
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypoglycemia, Obesity OMIM:301066
Marburg Hemorrhagic Fever
Hypokalemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia, El... ORPHA:99826
Primary Hyperoxaluria Type 1
Calcinosis, Failure to thrive, Abnormality of circulating enzyme level, Hyperoxaluria ORPHA:93598
Ciliary Dyskinesia, Primary, 1
Conductive hearing impairment, Male infertility OMIM:244400
Bannayan-Riley-Ruvalcaba syndrome