Immunodeficiency, and Severe short stature

Diseases related with Immunodeficiency and Severe short stature

In the following list you will find some of the most common rare diseases related to Immunodeficiency and Severe short stature that can help you solving undiagnosed cases.


Top matches:

High match METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH


METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH Is also known as cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency|chhv|cartilage-hair hypoplasia variant, skeletal manifestations only

Related symptoms:

  • Immunodeficiency
  • Severe short stature
  • Joint laxity
  • Hypotrichosis
  • Micromelia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH

High match INFANTILE SYSTEMIC HYALINOSIS


Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

High match OMENN SYNDROME


Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI


Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

High match SANJAD-SAKATI SYNDROME


Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

High match BLOOM SYNDROME


Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

High match DESBUQUOIS DYSPLASIA 1; DBQD1


Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois DysplasiaDBQD2 (OMIM ) is caused by mutation in the XYLT1 gene (OMIM ) on chromosome 16p12.Two unrelated patients with immunodeficiency-23 (IMD23 ), due to mutation in the PGM3 gene (OMIM ), were reported to have skeletal features reminiscent of DBQD.

DESBUQUOIS DYSPLASIA 1; DBQD1 Is also known as desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DESBUQUOIS DYSPLASIA 1; DBQD1

High match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

High match ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME


Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

High match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Top 5 symptoms//phenotypes associated to Immunodeficiency and Severe short stature

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Immunodeficiency and Severe short stature. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intrauterine growth retardation Micromelia Recurrent infections Recurrent bacterial infections Global developmental delay Cryptorchidism Microcephaly Cellular immunodeficiency Delayed skeletal maturation Postnatal growth retardation Thrombocytopenia Diarrhea Recurrent respiratory infections Pneumonia Muscular hypotonia Hypotrichosis Disproportionate short-limb short stature Myopia Neoplasm Cardiomyopathy Lymphoma Short neck Convex nasal ridge Hypothyroidism Alopecia High forehead Hypoplasia of the corpus callosum Scoliosis Depressed nasal bridge Genu varum Ventriculomegaly Skeletal dysplasia Joint laxity Platyspondyly Abnormal facial shape Dilatation Micrognathia Rhizomelia Hyperlordosis Short palm

Rare Symptoms - Less than 30% cases


Deeply set eye Low-set, posteriorly rotated ears Nystagmus Inguinal hernia Corneal opacity Small for gestational age Astigmatism Irregular vertebral endplates Seizures Hypogonadism Generalized hypotonia Micropenis Hernia Prominent forehead Strabismus Cognitive impairment Microphthalmia Long philtrum Abnormality of the dentition Sparse hair Hypocalcemia Frontal bossing Lymphopenia Epidermal acanthosis Abnormality of the hand Short nose Abnormality of dental enamel Obesity Aganglionic megacolon Epicanthus Anteverted nares Generalized joint laxity Respiratory distress Kyphosis Midface retrusion Clinodactyly Chronic lung disease Abnormality of the ribs Abnormality of the kidney Narrow chest Nail dysplasia Metaphyseal widening Depressed nasal ridge Bowing of the long bones Macrotia Abnormality of chromosome stability Hodgkin lymphoma Intestinal obstruction Ichthyosis Aplasia/Hypoplasia affecting the eye Malar flattening Hyperhidrosis Diabetes mellitus Polydactyly Erythema Leukemia Lumbar hyperlordosis High pitched voice Hearing impairment Decreased antibody level in blood Unilateral renal agenesis Specific learning disability Cutaneous photosensitivity Bronchiectasis Sacral dimple Squamous cell carcinoma Abnormal lung morphology Small hand Intellectual disability, mild Edema Metaphyseal chondrodysplasia Metaphyseal dysplasia Hepatomegaly Abnormality of the vertebral column Gingival overgrowth Chronic diarrhea Thickened skin Lymphadenopathy Arthritis Kyphoscoliosis Abnormality of the skeletal system Low-set ears Splenomegaly Dry skin Papule Autoimmunity Malabsorption Combined immunodeficiency Camptodactyly of finger Metaphyseal irregularity Short metacarpal Osteoporosis Telangiectasia of the skin Macrocephaly Brachydactyly Respiratory tract infection Osteopenia Feeding difficulties Abnormality of the metaphysis Skin rash Joint stiffness Abnormality of the hair Scaling skin Urticaria Abnormality of pelvic girdle bone morphology Erythroderma Biconvex vertebral bodies Talipes Hip dislocation Postaxial polydactyly Scarring Palmoplantar keratoderma Nail dystrophy Brain atrophy Developmental regression Pulmonary hypoplasia Limited elbow extension Ectodermal dysplasia Abnormality of the distal phalanx of finger Opacification of the corneal stroma Conjunctivitis Hemivertebrae Multicystic kidney dysplasia Abnormality of the nail Abnormal vertebral morphology Hypohidrosis Hypoplasia of dental enamel Renal dysplasia Abnormal T cell morphology Narrow vertebral interpedicular distance Severe T-cell immunodeficiency Omphalocele Long fibula Non-Hodgkin lymphoma Metaphyseal dysostosis Impaired lymphocyte transformation with phytohemagglutinin Choanal atresia Sparse facial hair Mental deterioration Oligohydramnios Eczema Postaxial hand polydactyly Camptodactyly Cerebellar hypoplasia Hydronephrosis Susceptibility to chickenpox Slurred speech Goiter Absent pubertal growth spurt Leukopenia Flaring of lower rib cage Acanthosis nigricans Short chin Bone marrow hypocellularity Hypergonadotropic hypogonadism Insulin resistance Broad-based gait Renal hypoplasia Postural tremor Apraxia Hypotelorism Sloping forehead Bradykinesia Pigmentary retinopathy Limb undergrowth Decreased testicular size Renal agenesis Progressive cerebellar ataxia Broad nasal tip Triangular face Dysdiadochokinesis Abnormality of humoral immunity Photophobia Multinodular goiter Umbilical hernia Hyperkeratosis Cerebral cortical atrophy Dementia Agenesis of corpus callosum Hypoplastic anemia Intellectual disability, severe Flexion contracture Cleft palate Long neck Gastrointestinal stroma tumor Glioma Bilateral cryptorchidism Shuffling gait Misalignment of teeth Low hanging columella Increased circulating gonadotropin level Abnormality of lipid metabolism Cerebellar vermis atrophy Long nose Truncal obesity Cortical gyral simplification Ectopic kidney Sensory axonal neuropathy Plagiocephaly Abnormal bone ossification Psoriasiform dermatitis Thrombocytosis Brachycephaly Constipation Abnormality of the hip bone High hypermetropia Macrocytic anemia Anal stenosis Hypoplasia of the odontoid process Esophageal atresia Distal arthrogryposis Respiratory insufficiency Exocrine pancreatic insufficiency Overweight Carcinoma Wide nasal bridge Upper limb undergrowth Heart block Fair hair Tracheal stenosis Hypertension B-cell lymphoma Visual impairment Aplastic anemia Abnormality of the pancreas Unilateral chest hypoplasia EEG abnormality Abnormal cardiac septum morphology Ichthyosis follicularis Short ribs Mesomelia Short thorax Basal cell carcinoma Cone-shaped epiphysis Tibial bowing Portal hypertension Reduced tendon reflexes Abnormal palate morphology Neoplasm of the skin Accelerated skeletal maturation Sparse eyelashes Sparse and thin eyebrow Pectus carinatum Abnormality of retinal pigmentation Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Fine hair Blue sclerae Gastrointestinal hemorrhage Postural instability Hypopigmentation of the skin Neutropenia Joint hypermobility Joint hyperflexibility Arthrogryposis multiplex congenita Sensory neuropathy Abnormal pelvis bone morphology Bifid scrotum Submucous cleft hard palate Follicular hyperkeratosis Corneal erosion Spinal dysraphism Abnormal eyelid morphology Absent eyelashes Abnormal eyelash morphology Blepharitis Alopecia of scalp Parakeratosis Uveitis Congenital hypoplastic anemia Oligodactyly Hypoplastic fingernail Ectrodactyly Neonatal short-limb short stature Femoral bowing Atonic seizures Congenital ichthyosiform erythroderma Absent septum pellucidum Mixed hearing impairment Abnormally ossified vertebrae Hydroureter Absent eyebrow Keratitis Heat intolerance Large face Thin fingernail Abnormal nasolacrimal system morphology Scleritis Aplasia/Hypoplasia of the abdominal wall musculature Hypoplasia of the bladder Metaphyseal cupping Bronchiolitis Diaphyseal thickening Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Subcortical cerebral atrophy Recurrent corneal erosions Corneal scarring Abnormality of the upper urinary tract Cheilitis Abnormal diaphysis morphology Mucopolysacchariduria Normocytic anemia Alopecia universalis Oxycephaly Hypersplenism Thin eyebrow Alopecia totalis Olivopontocerebellar atrophy Polyneuropathy Wide intermamillary distance Falls Autoimmune thrombocytopenia Progressive spastic quadriplegia Madelung deformity Decrease in T cell count Tubulointerstitial fibrosis Spondylometaphyseal dysplasia Immune dysregulation Juvenile rheumatoid arthritis Barrel-shaped chest Narrow nose Vitiligo Recurrent sinusitis Arthralgia/arthritis Autoimmune hemolytic anemia Basal ganglia calcification Scleroderma Hypermelanotic macule Restrictive ventilatory defect Spastic diplegia Rheumatoid arthritis Nephritis Systemic lupus erythematosus Encephalitis Metaphyseal sclerosis Hypopigmented skin patches on arms Recurrent otitis media Hypoparathyroidism Finger syndactyly Protruding ear Clinodactyly of the 5th finger Syndactyly Patchy osteosclerosis Congenital hypoparathyroidism Hypocalcemic seizures Tetany Decreased circulating cortisol level Hyperphosphatemia Severe intrauterine growth retardation Myopathy External ear malformation Spinal canal stenosis Hypoplasia of penis Growth hormone deficiency Delayed myelination Bifid uvula Short foot Thin vermilion border Muscular hypotonia of the trunk Thin upper lip vermilion Posteriorly rotated ears Purpura Spastic tetraplegia Infertility Abnormality of dental morphology Sepsis Pruritus Hepatosplenomegaly Fever Aplasia/Hypoplasia of the thymus Abnormality of the adrenal glands Abnormality of the gastrointestinal tract Osteomalacia Abnormality of the musculature Steatorrhea Increased susceptibility to fractures Inflammatory abnormality of the skin Polycystic ovaries Skin ulcer Hyperpigmentation of the skin Lymphedema Subcutaneous nodule Recurrent fractures Coarse facial features Metaphyseal cupping of metacarpals Cone-shaped epiphyses of the phalanges of the hand Abnormality of the immune system Short long bone Nephrotic syndrome Short toe Hepatitis Protracted diarrhea Cerebral calcification Tetraplegia Hemolytic anemia Abnormality of the cerebral white matter Arthralgia Spasticity Severe B lymphocytopenia Desquamation of skin soon after birth Abnormal lymphocyte morphology Generalized lymphadenopathy Recurrent fungal infections Increased body weight B lymphocytopenia Hypoplasia of the thymus Recurrent viral infections Hypoproteinemia Severe combined immunodeficiency Hashimoto thyroiditis Thyroiditis Aplasia/Hypoplasia of the eyebrow Leukocytosis Eosinophilia Shock Dolichocephaly Prominent nose Long face Hypoplastic vertebral bodies Supernumerary metacarpal bones Phalangeal dislocation Partial duplication of the distal phalanx of the hallux Advanced tarsal ossification Bifid distal phalanx of the thumb Large joint dislocations Multiple joint dislocation Advanced ossification of carpal bones Long upper lip Vertebral clefting Flattened epiphysis Proximal fibular overgrowth Open angle glaucoma Broad femoral neck Coronal cleft vertebrae Generalized osteoporosis Short 1st metacarpal Flat acetabular roof Protuberant abdomen Cystic hygroma Congenital glaucoma Thoracic hypoplasia Short femoral neck Multiple carpal ossification centers Broad first metatarsal Sandal gap Mandibular prognathia Dysmetria Synophrys Hypermetropia Dilated cardiomyopathy Prominent nasal bridge Short philtrum Attention deficit hyperactivity disorder Abnormal pyramidal sign Retinopathy Rigidity Pes cavus Radioulnar dislocation Babinski sign Gait disturbance Tremor Dysarthria Peripheral neuropathy Delayed speech and language development Cataract Sensorineural hearing impairment Ataxia Splayed fingers Medial deviation of the foot Short metatarsal Microretrognathia Abnormality of the skin Pulmonary fibrosis Abnormality of the nose Chronic obstructive pulmonary disease Hypoplastic pelvis Chromosome breakage Hypoplasia of the zygomatic bone Acute leukemia IgG deficiency IgA deficiency Acute myeloid leukemia Myeloid leukemia Hand polydactyly Decreased fertility in females Reduced number of teeth Hypopigmented skin patches Azoospermia Narrow face Sinusitis Cafe-au-lait spot Telangiectasia Abnormality of the face Hypertrichosis Type II diabetes mellitus Otitis media IgM deficiency Female infertility Coxa vara Flat face Joint dislocation Coxa valga Horseshoe kidney Broad thumb Osteoarthritis Waddling gait Round face Abdominal distention Renal cyst Short distal phalanx of finger Smooth philtrum Spotty hypopigmentation Pes planus Proptosis Narrow mouth Respiratory failure Glaucoma Talipes equinovarus Motor delay Facial telangiectasia in butterfly midface distribution Agenesis of maxillary lateral incisor Neoplasm of the gastrointestinal tract Spotty hyperpigmentation Pulmonary lymphoma



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Respiratory tract infection, related diseases and genetic alterations Hepatomegaly and Polyneuropathy, related diseases and genetic alterations Pain and Arachnodactyly, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more