996
(37.3%)

Martinez-Frias syndrome

Annular pancreas Hypoplasia of the gallbladder Hypospadias

Autosomal recessive inheritance

996
(37.3%)

Meckel syndrome, type 5

Abnormality of the urinary system Bile duct proliferation

Autosomal recessive inheritance Heterogeneous

Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.

996
(37.3%)

cryptosporidiosis-chronic cholangitis-liver disease syndrome

Cholangitis Cirrhosis

Autosomal recessive inheritance

996
(37.3%)

Meckel syndrome, type 2

Bile duct proliferation Renal cyst

Autosomal recessive inheritance

Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene.

996
(37.3%)

Meckel syndrome, type 6

Bile duct proliferation Hepatic fibrosis Renal cyst

Autosomal recessive inheritance

Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene.

996
(37.3%)

Meckel syndrome, type 4

Bile duct proliferation Renal cyst

Autosomal recessive inheritance

Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene.

996
(37.3%)

Joubert syndrome 6

Bile duct proliferation Hepatic fibrosis Nephronophthisis

Autosomal recessive inheritance Heterogeneous

Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene.

996
(37.3%)

holoprosencephaly-radial heart renal anomalies syndrome

Absent gallbladder Bifid uvula

Autosomal dominant inheritance

Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.

996
(37.3%)

cat-eye syndrome

Biliary atresia Renal agenesis

Autosomal dominant inheritance

Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.

996
(37.3%)

myotonic dystrophy type 1

Cholelithiasis Testicular atrophy

Autosomal dominant inheritance

Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.

996
(37.3%)

metachromatic leukodystrophy, juvenile form

Cholecystitis Urinary incontinence

Autosomal recessive inheritance

Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.

996
(37.3%)

intellectual disability, Buenos-Aires type

Hypospadias Intrahepatic biliary atresia

Autosomal recessive inheritance

Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.

996
(37.3%)

short-rib thoracic dysplasia 20 with polydactyly

Absent gallbladder Micropenis

Autosomal recessive inheritance

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330).

996
(37.3%)

autosomal dominant Opitz G/BBB syndrome

Absent gallbladder Inguinal hernia

Autosomal dominant inheritance

Autosomal dominant form of Opitz G/BBB syndrome.

996
(37.3%)

Peters plus syndrome

Biliary tract abnormality Hypoplasia of the uterus

Autosomal recessive inheritance

Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.

1016
(37.3%)

Juberg-Hayward syndrome

Abnormal abdomen morphology Highly arched eyebrow Horseshoe kidney

Autosomal recessive inheritance

Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.

1017
(37.0%)

pancreatic beta cell agenesis with neonatal diabetes mellitus

Abnormal abdomen morphology Neonatal insulin-dependent diabetes mellitus

Autosomal recessive inheritance

1017
(37.0%)

pelvic lipomatosis with crossed renal ectopia

Abnormal abdomen morphology Abnormality of metabolism/homeostasis Ectopic kidney

Autosomal dominant inheritance

1017
(37.0%)

blue diaper syndrome

Abnormal abdomen morphology Hypercalcemia Nephrocalcinosis

Autosomal recessive inheritance X-linked inheritance

Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria.

1017
(37.0%)

congenital pulmonary lymphangiectasia

Chylous ascites Facial edema Malar flattening

Autosomal recessive inheritance

Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation.

1017
(37.0%)

mucolipidosis type IV

Abnormal abdomen morphology Ganglioside accumulation Microcephaly

Autosomal recessive inheritance

Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.

1017
(37.0%)

hereditary hypophosphatemic rickets with hypercalciuria

Abnormal abdomen morphology Renal phosphate wasting

Autosomal recessive inheritance

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.

1017
(37.0%)

complex lethal osteochondrodysplasia

Ascites Hydrops fetalis Hypospadias

Autosomal recessive inheritance

1017
(37.0%)

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

Abnormal abdomen morphology Abnormality of metabolism/homeostasis Cryptorchidism

Autosomal recessive inheritance

1025
(36.7%)

immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist

Impaired lymphocyte transformation with phytohemagglutinin Pyoderma Recurrent corneal erosions

1025
(36.7%)

hereditary progressive mucinous histiocytosis

Mucinous histiocytosis Neoplasm of the skin

Autosomal dominant inheritance

Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis.

1025
(36.7%)

X-linked severe congenital neutropenia

Abnormality of the skin Neutropenia

X-linked recessive inheritance

This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.

1025
(36.7%)

immunodeficiency 11b with atopic dermatitis

Atopic dermatitis Eosinophilia

Autosomal dominant inheritance

1025
(36.7%)

Fanconi-like syndrome

Multiple cutaneous malignancies Osteomyelitis Pancytopenia

Autosomal recessive inheritance

A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.

1025
(36.7%)

bleeding disorder, platelet-type, 21

Eczema Menorrhagia

Autosomal dominant inheritance Autosomal recessive inheritance

1025
(36.7%)

predisposition to invasive fungal disease due to CARD9 deficiency

Abnormality of blood and blood-forming tissues Chronic oral candidiasis Meningitis

Autosomal recessive inheritance

1025
(36.7%)

combined immunodeficiency due to STK4 deficiency

Atrial septal defect Neutropenia Verrucae

Autosomal recessive inheritance

Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).

1025
(36.7%)

hyper-IgE recurrent infection syndrome 3, autosomal recessive

Abnormality of the dentition Eosinophilia Pruritus Recurrent otitis media

Autosomal recessive inheritance

1025
(36.7%)

holoprosencephaly, recurrent infections, and monocytosis

Cryptorchidism Monocytosis Recurrent skin infections

Autosomal dominant inheritance

1035
(36.5%)

T-cell immunodeficiency, congenital alopecia, and nail dystrophy

Alopecia Decreased helper T cell proportion Severe T-cell immunodeficiency

Autosomal recessive inheritance

A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.

1036
(36.4%)

multiple cutaneous and mucosal venous malformations

Abnormality of the mouth Intestinal bleeding Venous malformation

Autosomal dominant inheritance

Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.

1036
(36.4%)

intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked

Hydronephrosis Patent ductus arteriosus Thrombocytopenia Vomiting

X-linked recessive inheritance

Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms.

1038
(36.2%)

hypercarotenemia and vitamin A deficiency, autosomal recessive

Follicular hyperkeratosis Low levels of vitamin A Nyctalopia

Autosomal recessive inheritance

1038
(36.2%)

familial isolated deficiency of vitamin E

Low levels of vitamin E Xanthelasma

Autosomal recessive inheritance

Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.

1038
(36.2%)

autosomal dominant chondrodysplasia punctata

Cataract Hyperkeratosis with erythema Low levels of vitamin K

Autosomal dominant inheritance

Autosomal dominant form of chondrodysplasia punctata.

1041
(36.2%)

alpha thalassemia

Hypochromic microcytic anemia

Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.

1041
(36.2%)

beta-thalassemia HBB/LCRB

Hypochromic microcytic anemia

Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype.

1041
(36.2%)

hemolytic anemia with thermal sensitivity of red cells

Congenital hemolytic anemia

Autosomal recessive inheritance

1041
(36.2%)

adenosine triphosphatase deficiency, anemia due to

Nonspherocytic hemolytic anemia

Autosomal dominant inheritance

1041
(36.2%)

hemolytic anemia due to adenylate kinase deficiency

Hemolytic anemia

Autosomal recessive inheritance

Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.

1041
(36.2%)

6-phosphogluconolactonase deficiency

Hemolytic anemia

Autosomal dominant inheritance

1041
(36.2%)

transient erythroblastopenia of childhood

Transient erythroblastopenia

Autosomal recessive inheritance

An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy.

1041
(36.2%)

hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain

Compensated hemolytic anemia Increased hemoglobin oxygen affinity

Autosomal dominant inheritance

1041
(36.2%)

Diamond-Blackfan anemia-like

Anemia

Autosomal recessive inheritance

1041
(36.2%)

alpha-thalassemia-myelodysplastic syndrome

Hypochromic microcytic anemia Myelodysplasia

Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).

1041
(36.2%)

autosomal dominant sideroblastic anemia

Sideroblastic anemia

Autosomal dominant inheritance

Autosomal dominant form of sideroblastic anemia.

1041
(36.2%)

Diamond-Blackfan anemia 3

Macrocytic anemia Reticulocytopenia Webbed neck

Autosomal dominant inheritance

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene.

1041
(36.2%)

X-linked sideroblastic anemia 1

Sideroblastic anemia

X-linked recessive inheritance

1041
(36.2%)

OSLAM syndrome

Anemia

Autosomal dominant inheritance

OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia.

1041
(36.2%)

chromosome 5q deletion syndrome

Myelodysplasia Refractory macrocytic anemia

Somatic mutation Autosomal dominant contiguous gene syndrome Sporadic

A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)

1041
(36.2%)

Fanconi anemia complementation group T

Anemia Thrombocytopenia

Autosomal recessive inheritance

Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.

1041
(36.2%)

Senior-Loken syndrome 1

Anemia Nephronophthisis

Autosomal recessive inheritance Heterogeneous

Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene.

1041
(36.2%)

nephronophthisis 4

Anemia Nephronophthisis

Autosomal recessive inheritance

Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene.

1041
(36.2%)

Senior-Loken syndrome 4

Anemia Nephronophthisis

Autosomal recessive inheritance Heterogeneous

Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene.

1041
(36.2%)

Aicardi-Goutieres syndrome 6

Hemolytic anemia Microcephaly

Autosomal recessive inheritance

Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene.

1041
(36.2%)

PHGDH deficiency

Developmental cataract Megaloblastic anemia

Autosomal recessive inheritance

3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form

1062
(36.0%)

renin-angiotensin-aldosterone system-blocker-induced angioedema

Angioedema

Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.

1062
(36.0%)

retinal telangiectasia and hypogammaglobulinemia

Reduced delayed hypersensitivity Retinal telangiectasia

Autosomal recessive inheritance

1062
(36.0%)

chilblain lupus 2

Cutaneous photosensitivity Edema Vasculitis

Autosomal dominant inheritance

Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene.

1062
(36.0%)

carboxypeptidase N deficiency

Angioedema

Autosomal recessive inheritance

An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity.

1062
(36.0%)

xeroderma pigmentosum, autosomal dominant, mild

Defective DNA repair after ultraviolet radiation damage Erythema Hyperpigmentation of the skin

Autosomal dominant inheritance

1062
(36.0%)

UV-sensitive syndrome 3

Cutaneous photosensitivity Dry skin Increased cellular sensitivity to UV light Telangiectasia

Autosomal recessive inheritance

Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene.

1062
(36.0%)

epilepsy-telangiectasia syndrome

Abnormality of metabolism/homeostasis Conjunctival telangiectasia

Autosomal recessive inheritance

Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait.

1062
(36.0%)

hereditary angioedema type 3

Angioedema Facial edema

Autosomal dominant inheritance

Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.

1062
(36.0%)

Tryptophanuria with dwarfism

Conjunctival telangiectasia Tryptophanuria

Autosomal recessive inheritance

1062
(36.0%)

UV-sensitive syndrome 1

Cutaneous photosensitivity Dry skin Increased cellular sensitivity to UV light Telangiectasia

Autosomal recessive inheritance Heterogeneous

Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene.

1062
(36.0%)

peeling skin syndrome 1

Abnormality of metabolism/homeostasis Erythema Pruritus

Autosomal recessive inheritance

Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene.

1062
(36.0%)

Rowley-Rosenberg syndrome

Aminoaciduria Hypertension Pulmonary arterial hypertension Reduced subcutaneous adipose tissue

Autosomal recessive inheritance

1062
(36.0%)

deafness-encephaloneuropathy-obesity-valvulopathy syndrome

Cutis marmorata Increased serum lactate Macrocephaly

Autosomal recessive inheritance

Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.

1062
(36.0%)

hereditary angioedema with C1Inh deficiency

Abnormality of the larynx Erythema Intestinal edema

Autosomal dominant inheritance Autosomal recessive inheritance

Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.

1062
(36.0%)

xeroderma pigmentosum group E

Conjunctivitis Cutaneous photosensitivity Defective DNA repair after ultraviolet radiation damage Keratitis

Autosomal recessive inheritance

An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer.

1062
(36.0%)

autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

Cataract Decreased circulating IgA level Erythema

Autosomal dominant inheritance

1062
(36.0%)

Werner syndrome

Diabetes mellitus Hypogonadism Premature arteriosclerosis Progeroid facial appearance

Autosomal recessive inheritance

Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

1062
(36.0%)

hypotrichosis-lymphedema-telangiectasia syndrome

Hydrocele testis Nonimmune hydrops fetalis Palmar telangiectasia

Autosomal recessive inheritance

1062
(36.0%)

beta-mannosidosis

Abnormality of metabolism/homeostasis Angiokeratoma Hearing impairment Tortuosity of conjunctival vessels

Autosomal recessive inheritance

Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.

1062
(36.0%)

xeroderma pigmentosum group C

Conjunctivitis Cutaneous photosensitivity Defective DNA repair after ultraviolet radiation damage Keratitis

Autosomal recessive inheritance

An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair.

1062
(36.0%)

dermatitis, atopic

Abnormality of metabolism/homeostasis Conjunctivitis Facial erythema

Autosomal dominant inheritance

1062
(36.0%)

ataxia-telangiectasia-like disorder 1

Hypometric saccades Increased sensitivity to ionizing radiation Telangiectasia

Autosomal recessive inheritance

Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene.

1062
(36.0%)

xeroderma pigmentosum group A

Conjunctivitis Cutaneous photosensitivity Defective DNA repair after ultraviolet radiation damage Microcephaly

Autosomal recessive inheritance

Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene.

1062
(36.0%)

facioscapulohumeral muscular dystrophy 1

Elevated serum creatine kinase Retinal telangiectasia Sensorineural hearing impairment

Autosomal dominant inheritance

Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the FRG1 gene.

1062
(36.0%)

alpha-N-acetylgalactosaminidase deficiency type 2

Lip telangiectasia Lymphedema Thick lower lip vermilion

Autosomal recessive inheritance

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.

1062
(36.0%)

xeroderma pigmentosum group D

Conjunctivitis Cutaneous photosensitivity Defective DNA repair after ultraviolet radiation damage Microcephaly

Autosomal recessive inheritance

Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene.

1062
(36.0%)

de Sanctis-Cacchione syndrome

Conjunctivitis Cutaneous photosensitivity Defective DNA repair after ultraviolet radiation damage Microcephaly

Autosomal recessive inheritance

A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.

1062
(36.0%)

trichothiodystrophy 5, nonphotosensitive

Cutis marmorata Decreased circulating antibody level Micropenis

X-linked dominant inheritance

Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene.

1062
(36.0%)

Noonan syndrome 8

Cryptorchidism Palmoplantar cutis laxa Patent ductus arteriosus Pleural effusion

Autosomal dominant inheritance

Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene.

1062
(36.0%)

progeria-short stature-pigmented nevi syndrome

Allergic conjunctivitis Chordee Diabetes mellitus Lack of facial subcutaneous fat

Autosomal dominant inheritance Autosomal recessive inheritance X-linked inheritance

Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat.

1062
(36.0%)

congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome

Erythema Fragile skin Proteinuria Renal insufficiency

Autosomal recessive inheritance

Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.

1062
(36.0%)

CHILD syndrome

Elevated 8-dehydrocholesterol Erythema Renal agenesis

X-linked dominant inheritance Heterogeneous

CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.

1062
(36.0%)

spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Conjunctival telangiectasia Elevated serum creatine kinase Strabismus

Autosomal recessive inheritance

A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.

1062
(36.0%)

trichothiodystrophy 1, photosensitive

Cutaneous photosensitivity Decreased circulating IgG level Hypogonadism Telangiectasia

Autosomal recessive inheritance

1062
(36.0%)

microcephaly, short stature, and impaired glucose metabolism 2

Cryptorchidism Prominent superficial veins Recurrent hypoglycemia

Autosomal recessive inheritance

Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene.

1062
(36.0%)

Neu-Laxova syndrome 1

Cryptorchidism Generalized edema Patent ductus arteriosus Yellow subcutaneous tissue covered by thin, scaly skin

Autosomal recessive inheritance

Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.

1062
(36.0%)

Wiedemann-Rautenstrauch syndrome

Cryptorchidism Hypertriglyceridemia Prominent scalp veins

Autosomal recessive inheritance

Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.

1099
(35.9%)

Fraser syndrome 1

Abnormality of the thymus Absent eyelashes Cryptorchidism

Autosomal recessive inheritance

1100
(35.8%)

cholesterol pneumonia

Cyanosis Pneumonia

Autosomal recessive inheritance