1100
(35.8%)

surfactant metabolism dysfunction, pulmonary, 2

Cyanosis Recurrent respiratory infections

Autosomal dominant inheritance

1102
(35.8%)

venular insufficiency, systemic

Abnormality of the cardiovascular system Cyanosis

Autosomal dominant inheritance

1103
(35.7%)

familial porphyria cutanea tarda

Cirrhosis Cutaneous photosensitivity

Autosomal dominant inheritance Autosomal recessive inheritance

An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome.

1103
(35.7%)

Adams-Oliver syndrome 6

Cutis marmorata Hepatic fibrosis Renal hypoplasia

Autosomal dominant inheritance

Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene.

1103
(35.7%)

cranioectodermal dysplasia 3

Cirrhosis Ectodermal dysplasia Nephronophthisis

Autosomal recessive inheritance

Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene.

1103
(35.7%)

Rothmund-Thomson syndrome type 2

Annular pancreas Cryptorchidism Cutaneous photosensitivity

Autosomal recessive inheritance

Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.

1107
(35.7%)

hyper-IgM syndrome type 2

Decreased circulating IgA level Lymphadenopathy Recurrent infection of the gastrointestinal tract

Autosomal recessive inheritance

A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers.

1107
(35.7%)

severe combined immunodeficiency due to DCLRE1C deficiency

Diarrhea Lymph node hypoplasia Oral ulcer Panhypogammaglobulinemia

Autosomal recessive inheritance

Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.

1107
(35.7%)

T-B+ severe combined immunodeficiency due to JAK3 deficiency

Abnormality of the lymph nodes Cutaneous anergy Diarrhea Meningitis

Autosomal recessive inheritance

Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.

1107
(35.7%)

Hennekam lymphangiectasia-lymphedema syndrome 2

Intestinal lymphangiectasia Lymphedema Narrow mouth

Autosomal recessive inheritance

Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene.

1107
(35.7%)

NEK9-related lethal skeletal dysplasia

Hydrops fetalis Hypoplasia of the thymus Narrow palate Omphalocele

Autosomal recessive inheritance

NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.

1112
(35.5%)

TCR-alpha-beta-positive T-cell deficiency

Failure to thrive Hypereosinophilia Lymphadenopathy

Autosomal recessive inheritance

A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta.

1113
(35.5%)

MALT lymphoma

Gastric lymphoma

An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001)

1113
(35.5%)

factor VII and Factor VIII, combined deficiency of

Intestinal bleeding

Autosomal dominant inheritance

1113
(35.5%)

enterocolitis (disease)

Hematochezia

Autosomal recessive inheritance

An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use.

1113
(35.5%)

lysosomal acid phosphatase deficiency

Abnormal bleeding Hypotonia Vomiting

Autosomal recessive inheritance

1113
(35.5%)

leukemia, acute myelocytic, with polyposis coli and colon cancer

Abnormality of the genitourinary system Acute myeloid leukemia Colon cancer

Autosomal recessive inheritance

1113
(35.5%)

colonic varices without portal hypertension

Intestinal bleeding

Autosomal dominant inheritance

1113
(35.5%)

esophagitis, eosinophilic, 1

Eosinophilia Failure to thrive Vomiting

1113
(35.5%)

esophagitis, eosinophilic, 2

Eosinophilia Failure to thrive Vomiting

1113
(35.5%)

inflammatory bowel disease 11

Abdominal pain Hematochezia Weight loss

Multifactorial inheritance

An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22.

1113
(35.5%)

severe combined immunodeficiency due to LCK deficiency

Decreased proportion of CD4-positive helper T cells Diarrhea Failure to thrive

Autosomal recessive inheritance

1113
(35.5%)

hemophilia B

Abnormal bleeding Gastrointestinal hemorrhage

X-linked recessive inheritance

Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.

1113
(35.5%)

immunodeficiency 19

Diarrhea Lymphopenia Recurrent otitis media

Autosomal recessive inheritance

Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene.

1113
(35.5%)

Paris-Trousseau thrombocytopenia

Pyloric stenosis Thrombocytopenia Trigonocephaly

Sporadic

Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.

1113
(35.5%)

cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction

Autoimmune thrombocytopenia Omphalocele Renal hypoplasia

Autosomal recessive inheritance

1113
(35.5%)

immunodeficiency 25

Eosinophilia Protracted diarrhea

Autosomal recessive inheritance

Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene.

1113
(35.5%)

3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia

Feeding difficulties Microcephaly Neutropenia

Autosomal recessive inheritance

Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the CLPB gene.

1113
(35.5%)

IVIC syndrome

Rectovaginal fistula Thrombocytopenia

Autosomal dominant inheritance

IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.

1113
(35.5%)

microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

Feeding difficulties Microcephaly Thrombocytopenia

Autosomal recessive inheritance

1113
(35.5%)

X-linked intellectual disability-hypotonic face syndrome

Abnormality of blood and blood-forming tissues Cryptorchidism Vomiting

X-linked recessive inheritance

Mental retardation-hypotonic facies covers a group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.

1132
(35.4%)

thalassemia, beta+, silent allele

Reduced beta/alpha synthesis ratio

Autosomal dominant inheritance

1132
(35.4%)

pyruvate kinase hyperactivity

Polycythemia

Autosomal dominant inheritance

Autosomal dominant phenotype characterized by increase of red blood cell ATP.

1132
(35.4%)

methemoglobin reductase deficiency

Abnormal erythrocyte morphology

Autosomal recessive inheritance

1132
(35.4%)

erythrocytosis, familial, 3

Increased red blood cell mass

Autosomal dominant inheritance

Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene.

1132
(35.4%)

erythrocytosis, familial, 5

Increased hematocrit

Autosomal dominant inheritance

Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene.

1132
(35.4%)

erythrocytosis, familial, 4

Increased hematocrit

Autosomal dominant inheritance

Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene.

1132
(35.4%)

childhood onset GLUT1 deficiency syndrome 2

Irritability Reticulocytosis

Autosomal dominant inheritance

Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.

1139
(35.3%)

hepatic adenomas, familial

Hepatocellular adenoma Maturity-onset diabetes of the young Polycystic ovaries

Autosomal dominant inheritance

1139
(35.3%)

cirrhosis, familial, with antigenemia

Cirrhosis Increased circulating antibody level

Autosomal dominant inheritance Autosomal recessive inheritance

1139
(35.3%)

phosphoenolpyruvate carboxykinase deficiency, mitochondrial

Hepatic steatosis Hypoglycemia Renal steatosis

Autosomal recessive inheritance

1139
(35.3%)

infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

Increased serum lactate Microvesicular hepatic steatosis

Autosomal recessive inheritance

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.

1139
(35.3%)

combined oxidative phosphorylation deficiency 19

Hepatic steatosis Lactic acidosis Neonatal hypotonia

Autosomal recessive inheritance

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene.

1139
(35.3%)

tyrosinemia type III

4-Hydroxyphenylpyruvic aciduria Abnormality of the liver Seizure

Autosomal recessive inheritance

Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.

1139
(35.3%)

axial osteomalacia

Elevated serum creatine kinase Polycystic liver disease Renal cyst

Autosomal dominant inheritance

1139
(35.3%)

patent ductus venosus

Hepatic steatosis Hyperammonemia

Autosomal recessive inheritance X-linked recessive inheritance

1139
(35.3%)

combined oxidative phosphorylation defect type 21

Global developmental delay Hepatic steatosis Increased serum lactate

Autosomal recessive inheritance

Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.

1139
(35.3%)

PLIN1-related familial partial lipodystrophy

Diabetes mellitus Hepatic steatosis

Autosomal dominant inheritance

1139
(35.3%)

nephronophthisis 13

Hepatic cysts Mild proteinuria Renal hypoplasia

Autosomal recessive inheritance

A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.

1139
(35.3%)

mitochondrial complex III deficiency nuclear type 6

Elevated hepatic transaminase Encephalopathy Hyperammonemia

Autosomal recessive inheritance

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene.

1139
(35.3%)

mitochondrial complex III deficiency nuclear type 5

Decreased liver function Elevated hepatic transaminase Metabolic acidosis

Autosomal recessive inheritance

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene.

1139
(35.3%)

idiopathic pulmonary fibrosis

Cirrhosis Clubbing Increased circulating antibody level

Autosomal dominant inheritance

Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.

1139
(35.3%)

LIPE-related familial partial lipodystrophy

Diabetes mellitus Hepatic steatosis

Autosomal recessive inheritance

1139
(35.3%)

citrullinemia, type II, adult-onset

Coma Hepatic steatosis Hyperammonemia

Autosomal recessive inheritance

Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.

1139
(35.3%)

karyomegalic interstitial nephritis

Elevated hepatic transaminase Nephronophthisis Proteinuria

Autosomal recessive inheritance

Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene.

1139
(35.3%)

retinohepatoendocrinologic syndrome

Degenerative liver disease Elevated serum creatine kinase Optic disc pallor

Autosomal recessive inheritance

Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family.

1139
(35.3%)

retinitis pigmentosa 71

Edema Elevated hepatic transaminase Pancreatitis Rod-cone dystrophy

Autosomal recessive inheritance

Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene.

1139
(35.3%)

combined oxidative phosphorylation defect type 30

Elevated hepatic transaminase Generalized hypotonia Increased serum lactate

Autosomal recessive inheritance

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene.

1139
(35.3%)

polycystic kidney disease 2

Elevated serum creatinine Hepatic cysts Recurrent urinary tract infections

Autosomal dominant inheritance

Autosomal dominant polycystic kidney disease caused by a mutation in PKD2.

1139
(35.3%)

3-hydroxyacyl-CoA dehydrogenase deficiency

Generalized hypotonia Hepatic steatosis Hypoketotic hypoglycemia

Autosomal recessive inheritance

1139
(35.3%)

obesity due to CEP19 deficiency

Azoospermia Hepatic steatosis Insulin resistance

Autosomal recessive inheritance

1139
(35.3%)

lipoyl transferase 1 deficiency

Elevated hepatic transaminase Global developmental delay Increased serum lactate

Autosomal recessive inheritance

1139
(35.3%)

combined oxidative phosphorylation defect type 2

Edema Elevated hepatic transaminase Low-set ears

Autosomal recessive inheritance Heterogeneous

Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.

1139
(35.3%)

3-methylcrotonyl-CoA carboxylase 1 deficiency

Acute hepatic steatosis Hypoglycemia Intellectual disability

Autosomal recessive inheritance Heterogeneous

Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.

1139
(35.3%)

combined oxidative phosphorylation defect type 26

Cirrhosis Increased serum lactate Narrow mouth

Autosomal recessive inheritance

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene.

1139
(35.3%)

autosomal dominant familial periodic fever

Edema Hepatic amyloidosis

Autosomal dominant inheritance

Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.

1139
(35.3%)

retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome

Elevated hepatic transaminase Insulin-resistant diabetes mellitus Polycystic ovaries

Autosomal recessive inheritance

Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.

1139
(35.3%)

isolated growth hormone deficiency type III

Enteroviral hepatitis Panhypogammaglobulinemia Recurrent urinary tract infections

X-linked recessive inheritance

1139
(35.3%)

acute intermittent porphyria

Elevated urinary delta-aminolevulinic acid Hepatocellular carcinoma Urinary retention

Autosomal dominant inheritance

Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.

1139
(35.3%)

mitochondrial trifunctional protein deficiency

Elevated hepatic transaminase Hydrops fetalis Pigmentary retinopathy

Autosomal recessive inheritance

Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..

1139
(35.3%)

combined oxidative phosphorylation defect type 27

Increased serum lactate Microvesicular hepatic steatosis Visual impairment

Autosomal recessive inheritance

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene.

1139
(35.3%)

COG8-CDG

Alternating esotropia Elevated serum creatine kinase Elevated serum transaminases during infections

Autosomal recessive inheritance

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.

1139
(35.3%)

combined oxidative phosphorylation deficiency 37

Elevated hepatic transaminase Hypoglycemia Sensorineural hearing impairment

Autosomal recessive inheritance

1139
(35.3%)

progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

Elevated hepatic transaminase Increased serum lactate Ptosis

Autosomal dominant inheritance

Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene.

1139
(35.3%)

congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Hypoglycemia Malar flattening Microvesicular hepatic steatosis

Autosomal recessive inheritance

Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.

1139
(35.3%)

Leigh syndrome

Hepatocellular necrosis Increased serum lactate Sensorineural hearing impairment

Autosomal recessive inheritance Heterogeneous Mitochondrial inheritance

Leigh syndrome or subacute necrotizing encephalomyelopathy is a progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.

1139
(35.3%)

diaphanospondylodysostosis

Abnormal liver lobulation Increased nuchal translucency Inguinal hernia

Autosomal recessive inheritance

Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.

1139
(35.3%)

short-rib thoracic dysplasia 6 with or without polydactyly

Hepatic fibrosis Hydrops fetalis Micropenis

Autosomal recessive inheritance Digenic inheritanec

A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia.

1139
(35.3%)

metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration

Elevated hepatic transaminase Metabolic acidosis Microcephaly

Autosomal recessive inheritance

1139
(35.3%)

orofaciodigital syndrome I

Hepatic fibrosis Proteinuria

X-linked dominant inheritance

Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

1181
(35.0%)

hereditary hypercarotenemia and vitamin A deficiency

Abnormality of the skin Low levels of vitamin A

Autosomal dominant inheritance

Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.

1182
(34.9%)

variegate porphyria

Cutaneous photosensitivity Porphyrinuria Psychosis Vomiting

Autosomal dominant inheritance

Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.

1182
(34.9%)

ectodermal dysplasia and immunodeficiency 2

Anhidrotic ectodermal dysplasia Heat intolerance Hypodontia Recurrent infection of the gastrointestinal tract

Autosomal dominant inheritance

1182
(34.9%)

tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities

Abnormality of metabolism/homeostasis Cryptorchidism Ectodermal dysplasia Umbilical hernia

Autosomal recessive inheritance

1182
(34.9%)

Lafora disease

Abnormality of metabolism/homeostasis Cutaneous photosensitivity Hepatic failure Visual loss

Autosomal recessive inheritance Heterogeneous

Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.

1182
(34.9%)

junctional epidermolysis bullosa with pyloric atresia

Abnormality of the genitourinary system Elevated maternal serum alpha-fetoprotein Esophageal atresia Fragile skin

Autosomal recessive inheritance

Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.

1182
(34.9%)

ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features

Abnormality of metabolism/homeostasis Ectodermal dysplasia Inguinal hernia

Autosomal recessive inheritance

1182
(34.9%)

SHORT syndrome

Inguinal hernia Insulin-resistant diabetes mellitus Premature skin wrinkling

Autosomal dominant inheritance

SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

1182
(34.9%)

Prader-Willi syndrome

Cryptorchidism Cutaneous photosensitivity Hyperinsulinemia Poor suck

Autosomal dominant inheritance Sporadic

Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems.

1190
(34.9%)

pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

Bone marrow hypocellularity Premature graying of hair Pulmonary fibrosis

Autosomal dominant inheritance

Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene.

1191
(34.5%)

Fanconi anemia complementation group J

Bone marrow hypocellularity Chromosomal breakage induced by crosslinking agents Microphthalmia Multiple cafe-au-lait spots

Autosomal recessive inheritance

Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.

1191
(34.5%)

Revesz syndrome

Abnormality of metabolism/homeostasis Aplastic anemia Fine, reticulate skin pigmentation Megalocornea

Autosomal dominant inheritance Sporadic

Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.

1193
(34.4%)

gastric sneezing

Abnormal abdomen morphology

1193
(34.4%)

isolated agenesis of gallbladder

Abnormal abdomen morphology

Autosomal dominant inheritance

1193
(34.4%)

polyposis syndrome, hereditary mixed, 1

Abnormal abdomen morphology

Autosomal dominant inheritance

1193
(34.4%)

chylous ascites

Chylous ascites Glaucoma

Autosomal recessive inheritance

Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain.

1193
(34.4%)

atresia of small intestine

Abnormal abdomen morphology

Autosomal recessive inheritance

Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases.

1193
(34.4%)

ovarian hyperstimulation syndrome

Abnormality of the genitourinary system Ascites

Autosomal dominant inheritance

A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries.

1193
(34.4%)

Cooper-Jabs syndrome

Abnormal abdomen morphology Atresia of the external auditory canal

Autosomal recessive inheritance

Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive.

1193
(34.4%)

teratoma, pineal

Abnormal abdomen morphology Polyuria

Autosomal recessive inheritance