Carcinoma, and Poor speech

Diseases related with Carcinoma and Poor speech

In the following list you will find some of the most common rare diseases related to Carcinoma and Poor speech that can help you solving undiagnosed cases.


Top matches:

Medium match PENDRED SYNDROME; PDS

Pendred syndrome, the most common syndromal form of deafness, is an autosomal recessive disorder associated with developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement (goiter) (Everett et al., 1997).For a general phenotypic description and a discussion of genetic heterogeneity of thyroid dyshormonogenesis, see TDH1 (OMIM ).

PENDRED SYNDROME; PDS Is also known as deafness with goiter, goiter-deafness syndrome, thyroid dyshormonogenesis 2b;tdh2b, thyroid hormonogenesis, genetic defect in, 2b, hypothyroidism, congenital, due to dyshormonogenesis, 2b;goiter-deafness syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Pica
  • Hearing impairment
  • Ataxia


SOURCES: UMLS ORPHANET ICD10 DOID GARD SCTID NCIT OMIM MESH MONDO

More info about PENDRED SYNDROME; PDS

Medium match LIPOID PROTEINOSIS OF URBACH AND WIETHE

Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified by generalized thickening of skin, mucosae, and certain viscera. Classic features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. The disorder is clinically heterogeneous, with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurologic abnormalities such as temporal lobe epilepsy. Histologically, there is widespread deposition of hyaline (glycoprotein) material and disruption/reduplication of basement membrane (summary by Hamada et al., 2002 and Hamada et al., 2003).

LIPOID PROTEINOSIS OF URBACH AND WIETHE Is also known as lipoid proteinosis, urbach-wiethe disease, hyalinosis cutis et mucosae;hyalinosis cutis et mucosae; urbach-wiethe disease

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Pica
  • High palate


SOURCES: SCTID MESH GARD DOID OMIM NCIT UMLS ORPHANET MONDO

More info about LIPOID PROTEINOSIS OF URBACH AND WIETHE

Medium match IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1

HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked;xhim, hyper-igm syndrome 1, hyper-igm syndrome;higm;ihis, immunodeficiency 3;imd3;higm1; hyper-igm syndrome due to cd40 ligand deficiency; hyper-igm syndrome due to cd40l deficiency; hyper-igm syndrome type 1; xhigm

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: GARD NCIT DOID ORPHANET OMIM UMLS MONDO SCTID

More info about IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1

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Other less relevant matches:

Medium match PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES

Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with severe pruritus of lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas (summary by Lin et al., 2012). The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes (Olmsted, 1927).

PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES Is also known as olmsted syndrome;olms;mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; olmsted syndrome; palmoplantar and periorificial keratoderma

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment


SOURCES: OMIM UMLS ORPHANET MONDO

More info about PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES

Medium match COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2 Is also known as colon cancer, familial nonpolyposis, type 2;fcc2, coca2;

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Muscular hypotonia
  • Flexion contracture
  • Neoplasm


SOURCES: ORPHANET OMIM

More info about COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2

Medium match ATAXIA-TELANGIECTASIA; AT

Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnormally sensitive to killing by ionizing radiation (IR), and abnormally resistant to inhibition of DNA synthesis by ionizing radiation. The latter trait has been used to identify complementation groups for the classic form of the disease (Jaspers et al., 1988). At least 4 of these (A, C, D, and E) map to chromosome 11q23 (Sanal et al., 1990) and are associated with mutations in the ATM gene.

ATAXIA-TELANGIECTASIA; AT Is also known as at1, louis-bar syndrome;louis-bar syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Short stature
  • Pica


SOURCES: OMIM MONDO ORPHANET

More info about ATAXIA-TELANGIECTASIA; AT

Medium match BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS Is also known as bannayan-zonana syndrome;bzs, riley-smith syndrome, ruvalcaba-myhre-smith syndrome;rmss, macrocephaly, pseudopapilledema, and multiple hemangiomata, macrocephaly, multiple lipomas, and hemangiomata;brrs; myhre-riley-smith syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: DOID GARD NCIT MONDO SCTID ORPHANET OMIM ICD10

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS

Medium match NEUROFIBROMATOSIS, TYPE I; NF1

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS, TYPE I; NF1 Is also known as neurofibromatosis, peripheral type, von recklinghausen disease;von recklinghausen disease due to nf1 mutation or intragenic deletion

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Short stature
  • Pica


SOURCES: ORPHANET ICD10 OMIM

More info about NEUROFIBROMATOSIS, TYPE I; NF1

Medium match COSTELLO SYNDROME; CSTLO

Costello syndrome is a rare multiple congenital anomaly syndrome associated in all cases with a characteristic coarse facies, short stature, distinctive hand posture and appearance, severe feeding difficulty, and failure to thrive. Other features include cardiac anomalies and developmental disability. Facial warts, particularly nasolabial, are often present in childhood (Kerr et al., 2006).In patients with a clinical diagnosis of Costello syndrome, Zenker et al. (2007) identified mutations in the KRAS gene, but noted that these patients may later develop features of CFC syndrome. In either case, the findings underscore the central role of Ras in the pathogenesis of these phenotypically related disorders (Zenker et al., 2007). However, Kerr et al. (2008) commented that the diagnosis of Costello syndrome should only be used to refer to patients with mutations in the HRAS gene.

COSTELLO SYNDROME; CSTLO Is also known as faciocutaneoskeletal syndrome, fcs syndrome;fcs syndrome; faciocutaneoskeletal syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: DOID OMIM MONDO GARD SCTID ORPHANET MESH UMLS NCIT

More info about COSTELLO SYNDROME; CSTLO

Medium match FAMILIAL ADENOMATOUS POLYPOSIS 2; FAP2

Autosomal recessive colorectal adenomatous polyposis is a disorder characterized by adult-onset of multiple colorectal adenomas and adenomatous polyposis. Affected individuals have a significantly increased risk of colorectal cancer (summary by Sieber et al., 2003).Cheadle and Sampson (2003) reviewed the molecular pathology and biochemistry of MYH colonic polyposis.For a discussion of genetic heterogeneity of FAP, see {175100}.

FAMILIAL ADENOMATOUS POLYPOSIS 2; FAP2 Is also known as colorectal adenomatous polyposis, autosomal recessive, adenomas, multiple colorectal, autosomal recessive;mutyh-related afap; mutyh-related attenuated fap; mutyh-related attenuated familial polyposis coli

Related symptoms:

  • Autosomal recessive inheritance
  • Neoplasm
  • Coma
  • Carcinoma
  • Colon cancer


SOURCES: NCIT GARD UMLS MONDO ORPHANET MESH OMIM

More info about FAMILIAL ADENOMATOUS POLYPOSIS 2; FAP2

Top 5 symptoms//phenotypes associated to Carcinoma and Poor speech

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Pica Uncommon - Between 30% and 50% cases
Nevus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Carcinoma and Poor speech. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Autosomal dominant inheritance Global developmental delay Cognitive impairment Dysarthria Autosomal recessive inheritance Neurological speech impairment Short stature Coma Abnormality of cardiovascular system morphology Overgrowth Failure to thrive Milia Anemia Glioma Sarcoma Lymphoma Hypoglycemia Abnormal heart morphology Oxycephaly Intellectual disability, mild Multiple cafe-au-lait spots Macrocephaly Myopathy Hypertelorism Hepatocellular carcinoma Hyperkeratosis Scoliosis Cafe-au-lait spot Motor delay Flexion contracture Pain Delayed skeletal maturation Osteoporosis Acrania Strabismus Tics High palate Dilatation Respiratory insufficiency

Rare Symptoms - Less than 30% cases


Chronic hepatitis Epidermal acanthosis Visual impairment Generalized hypotonia Muscular hypotonia Abnormality of the hair Telangiectasia Curly hair Papilloma Squamous cell carcinoma Cutis laxa Abnormality of the fingernails Renal neoplasm Pruritus Pulmonic stenosis Acanthosis nigricans Hypertrophic cardiomyopathy Sparse hair Joint laxity Hyperhidrosis Severe short stature Abnormality of the dentition Growth delay Megalencephaly Mitral valve prolapse Chronic myelogenous leukemia IgE deficiency Absent speech Gait disturbance Thyroid carcinoma Colon cancer Hearing impairment Muscle weakness Ataxia Embryonal rhabdomyosarcoma Peripheral neuropathy Skeletal muscle atrophy Leiomyosarcoma Intestinal polyposis Sensorineural hearing impairment Delayed puberty Neuroblastoma Breast carcinoma Behavioral abnormality Leukemia Gastrointestinal hemorrhage Paresthesia Malabsorption Meningioma Irritability Attention deficit hyperactivity disorder Schwannoma Anxiety Apraxia Rhabdomyosarcoma Depressivity Micrognathia Neoplasm of the breast IgA deficiency Abnormality of the skeletal system Hallucinations Abnormality of the liver Thickened skin Weight loss Macule Recurrent respiratory infections Immunodeficiency Lymphedema Ptosis Abnormal facial shape Verrucae Hypertension Subcutaneous nodule Abnormal oral mucosa morphology Wide nose Joint hypermobility Abnormality of the gingiva Cardiomyopathy Joint hyperflexibility Hydrocephalus Postnatal growth retardation Dystonia Dysphagia Hepatomegaly Hamartoma Hoarse voice Sepsis Papule Anteverted nares Narrow palate Frontal bossing Memory impairment Abnormality of the skin Alopecia Incoordination Choreoathetosis Thick lower lip vermilion Athetosis Atrial septal defect Short nose Decreased antibody level in blood Downslanted palpebral fissures Edema Birth length greater than 97th percentile Cutaneous angiolipomas Anomalous pulmonary venous return Renal phosphate wasting Increased reactive oxygen species production Nasolacrimal duct obstruction Carcinoid tumor Abnormally prominent line of Schwalbe Thyroid adenoma Aqueductal stenosis Single ventricle Optic nerve glioma Dural ectasia Fibrosarcoma Renovascular hypertension Soft tissue sarcoma Renal artery stenosis Myocardial fibrosis Parathyroid adenoma Lisch nodules Fibular bowing Pseudoarthrosis Abnormal large intestine morphology Neoplasm of the central nervous system Ependymoma Axillary freckling Paraganglioma Complete atrioventricular canal defect Epigastric pain Neoplasm of the adrenal cortex Pheochromocytoma Overweight Brain neoplasm Intestinal polyp Bone pain Aganglionic megacolon Abnormality of the cardiovascular system Glaucoma Hypsarrhythmia Thick corpus callosum Visual loss Coarctation of aorta Visceral angiomatosis Hamartomatous polyposis Subcutaneous hemorrhage Lymphangioma Tetralogy of Fallot Spina bifida Specific learning disability Macrodactyly Paralysis Recurrent fractures Abnormality of skin pigmentation Peripheral axonal neuropathy Angiokeratoma Facial asymmetry Genu valgum Kyphoscoliosis Abdominal wall muscle weakness Intussusception Sensorimotor neuropathy Reduced bone mineral density Uterine neoplasm Back pain Neoplasm of the endocrine system Astrocytoma Osteoma Gangrene Venous malformation Severe visual impairment Dilatation of the cerebral artery Hyperactivity Neurofibromas Osteomalacia Intestinal bleeding Renal cell carcinoma Freckling Venous thrombosis Hypophosphatemia Cutis marmorata telangiectatica congenita Blindness Long penis Pulmonary fibrosis Tibial bowing Pseudopapilledema Sensory axonal neuropathy Clitoral hypertrophy Fibroma Progressive macrocephaly Precocious puberty Atherosclerosis Spontaneous abortion Abnormality of the genital system Subcutaneous neurofibromas Fasting hypoglycemia Sudden death Woolly hair Lack of skin elasticity Central apnea Labial hypoplasia Fragile nails Deep palmar crease Obstructive sleep apnea Concave nail Redundant neck skin Asymmetric septal hypertrophy Hyperextensibility of the finger joints Pneumothorax Limited elbow movement Bronchomalacia Large earlobe Progeroid facial appearance Hypoplasia of teeth Syringomyelia Abnormality of the vasculature Ulnar deviation of finger Generalized hyperpigmentation Keratoconus Tracheomalacia Microscopic hematuria Central hypotonia Achilles tendon contracture Thickened nuchal skin fold Severe postnatal growth retardation Heart murmur Rhabdomyolysis Soft skin Arnold-Chiari type I malformation Barrel-shaped chest Fetal distress Large face Infantile muscular hypotonia Loose anagen hair Macrocephaly at birth Ganglioneuroblastoma Acanthoma Bladder carcinoma Vitreomacular adhesion Cardiomyocyte hypertrophy Alveolar rhabdomyosarcoma Body odor Myofiber disarray Enlarged cerebellum Multifocal atrial tachycardia Congenital neuroblastoma Thickened Achilles tendon Systolic heart murmur Adenomatous colonic polyposis Deep-set nails Frontal hirsutism Deep plantar creases Postprandial hyperglycemia Triangular mouth Thin nail Duodenal ulcer Capillary malformation Melena Hypopnea Ulnar deviation of the wrist Vestibular Schwannoma Bladder neoplasm Hematemesis Shyness Transitional cell carcinoma of the bladder Concentric hypertrophic cardiomyopathy Choroid plexus papilloma Neonatal sepsis Reduced subcutaneous adipose tissue Bilateral cryptorchidism Primitive neuroectodermal tumor Polyhydramnios Renal insufficiency Arrhythmia Cerebral atrophy Inguinal hernia Vomiting Hernia Cerebral cortical atrophy Ventricular septal defect Posteriorly rotated ears Decreased plasma carnitine Coarse facial features Respiratory failure Hypogonadism Proptosis Gastroesophageal reflux Talipes equinovarus Ventriculomegaly Feeding difficulties in infancy Acute promyelocytic leukemia Plexiform neurofibroma Inguinal freckling Spinal neurofibromas Neurofibrosarcoma Arterial fibromuscular dysplasia Cerebral artery stenosis Tibial pseudoarthrosis Short neck Fusiform cerebral aneurysm Brow ptosis Cryptorchidism Low-set ears Depressed nasal bridge Epicanthus Feeding difficulties Intellectual disability, moderate Sporadic Hyperglycemia Redundant skin Wide anterior fontanel Abnormality of dental enamel Atrial fibrillation Pointed chin Abnormal dermatoglyphics Hydrops fetalis Pyloric stenosis Hypoplasia of dental enamel Laryngomalacia Hyperextensible skin Poor suck Arnold-Chiari malformation Relative macrocephaly Hypoplastic toenails Failure to thrive in infancy Hyperpigmentation of the skin Asthma Wide mouth Thick vermilion border Low-set, posteriorly rotated ears Abnormality of the nervous system Apnea Pectus carinatum Arthrogryposis multiplex congenita Sleep disturbance Tachycardia Postural instability Ascites Macroglossia Premature birth Webbed neck Full cheeks Hematuria Tetraplegia Eczema Cavernous hemangioma Increased sensitivity to ionizing radiation Abnormality of the optic nerve Ichthyosis Mutism Neoplasm of the skin Inflammatory abnormality of the skin Osteolysis Opacification of the corneal stroma Skin ulcer Fine hair Hypotrichosis Ectodermal dysplasia Nail dysplasia Hypodontia Palmoplantar keratoderma Nail dystrophy Carious teeth Anhidrosis Corneal opacity Ranula Erythema CNS infection Impaired memory B cell generation Impaired Ig class switch recombination Absence of lymph node germinal center Agranulocytosis Enlarged tonsils Decreased T cell activation Cholangiocarcinoma Sclerosing cholangitis Increased IgM level Melanoma Neoplasm of the lung Opportunistic infection Ainhum Nausea and vomiting Developmental regression Abnormal pyramidal sign Abdominal pain Constipation Fatigue Hypertonia Skin fissure Anal fissure Circumungual hyperkeratosis Agenesis of premolar Foot pain Autoamputation Palmoplantar hyperhidrosis Plantar hyperkeratosis Subungual hyperkeratosis Abnormal cornea morphology Trichorrhexis nodosa Alopecia universalis Abnormality of the tongue Hidrotic ectodermal dysplasia Amniotic constriction ring Hypergranulosis Generalized osteoporosis Oral leukoplakia Ankylosis Pili torti Parakeratosis Dysgammaglobulinemia Stomatitis Dyskinesia Metabolic alkalosis Fragile skin Acne Abnormal blistering of the skin Scarring Cerebral calcification Aggressive behavior Enlarged vestibular aqueduct Unilateral deafness Cochlear malformation Hypoplasia of the cochlea Compensated hypothyroidism Abnormality of the inner ear Thyroid nodule Alkalosis Pustule Tracheal stenosis Vestibular dysfunction Hyperparathyroidism Abnormality of the thyroid gland Congenital sensorineural hearing impairment Progressive hearing impairment Goiter Renal dysplasia Bilateral sensorineural hearing impairment Vertigo Nephropathy Hypothyroidism Abnormality of metabolism/homeostasis Delusions Alopecia of scalp Cholangitis Neutropenia IgM deficiency Agammaglobulinemia Recurrent lower respiratory tract infections Gingivitis IgG deficiency Encephalitis Involuntary movements Leukoencephalopathy Recurrent bacterial infections Clumsiness Chronic diarrhea Recurrent otitis media Otitis media Hemolytic anemia Microglossia Autoimmunity Recurrent infections X-linked recessive inheritance Encephalopathy Thrombocytopenia Diarrhea Fever Splenomegaly Bilateral intracranial calcifications White papule Tongue nodules Patchy alopecia Paranoia Nasal polyposis Death in infancy Migraine Angina pectoris Abnormality of chromosome stability Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Non-Hodgkin lymphoma Mucosal telangiectasiae Decreased proportion of CD4-positive T cells Aplasia/Hypoplasia of the thymus Female hypogonadism Elevated alpha-fetoprotein Abnormal spermatogenesis Chronic lymphatic leukemia B-cell lymphoma Conjunctival telangiectasia Spinocerebellar tract degeneration Defective B cell differentiation Abnormality of the testis Lymphoproliferative disorder Cellular immunodeficiency Medulloblastoma Hypoplasia of the thymus Absent Achilles reflex Recurrent bronchitis Chromosome breakage Severe combined immunodeficiency Myeloid leukemia Acute lymphoblastic leukemia Hodgkin lymphoma Prematurely aged appearance Interosseus muscle atrophy Delayed speech and language development Combined immunodeficiency Intracranial hemorrhage Hashimoto thyroiditis Thyroiditis Hematochezia Capillary hemangioma Scaphocephaly Papilledema Arteriovenous malformation Irregular hyperpigmentation Multiple lipomas Supernumerary nipple Delayed gross motor development Cerebral hemorrhage Lipoma Cutis marmorata Long philtrum Aortic aneurysm Drooling Cachexia Hemangioma Amblyopia Exotropia Tall stature Broad thumb Juvenile onset Dolichocephaly Proximal muscle weakness Autism Macrotia Pectus excavatum Hypopigmentation of hair Resting tremor Increased intracranial pressure Benign neoplasm of the central nervous system Diabetes mellitus Myoclonus Pneumonia Cerebellar atrophy Tremor Spasticity Nystagmus Microcephaly Urinary tract neoplasm Cardiac diverticulum Neoplasm of the rectum Abnormality of creatine metabolism Neoplasm of the skeletal system Neoplasm of the thyroid gland Elevated hepatic transaminase Agnosia Glioblastoma multiforme Pancreatic adenocarcinoma Death in early adulthood Amaurosis fugax Prostate cancer Dysgraphia Pituitary adenoma Neoplasm of the pancreas Ovarian neoplasm Basal cell carcinoma Visual field defect Hemiplegia/hemiparesis Gait ataxia Respiratory tract infection Telangiectasia of the skin Limb ataxia Aplasia/Hypoplasia of the skin Premature graying of hair Abnormality of the immune system Glucose intolerance Spinal muscular atrophy Polycystic ovaries Reduced tendon reflexes Oculomotor apraxia Cerebral palsy Abnormal vertebral morphology Truncal ataxia Lymphopenia Sinusitis Bronchiectasis Clonus Pancytopenia Hepatitis Recurrent pneumonia Intention tremor Type II diabetes mellitus Progressive cerebellar ataxia Abnormal cerebellum morphology Chorea Polyneuropathy Abnormality of eye movement Unsteady gait Distal amyotrophy Abnormality of movement Distal muscle weakness Sebaceous gland carcinoma



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Other signs and symptoms that you may find interesting

Autoimmunity and Spinal muscular atrophy, related diseases and genetic alterations Intellectual disability, severe and Severe short stature, related diseases and genetic alterations Hepatomegaly and Hyperlordosis, related diseases and genetic alterations Optic atrophy and Abnormal cardiac septum morphology, related diseases and genetic alterations Skeletal muscle atrophy and Nail dystrophy, related diseases and genetic alterations Leukemia and Polycystic kidney dysplasia, related diseases and genetic alterations