Hydrocephalus, and Glioma

Diseases related with Hydrocephalus and Glioma

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


Top matches:

Medium match GLIOMA SUSCEPTIBILITY 1; GLM1


Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, ependymomas, and subependymomas. Glial cells can show various degrees of differentiation even within the same tumor (summary by Kyritsis et al., 2010).Ependymomas are rare glial tumors of the brain and spinal cord (Yokota et al., 2003).Subependymomas are unusual tumors believed to arise from the bipotential subependymal cell, which normally differentiates into either ependymal cells or astrocytes. They were characterized as a distinct entity by Scheinker (1945). They tend to be slow-growing, noninvasive, and located in the ventricular system, septum pellucidum, cerebral aqueduct, or proximal spinal cord (summary by Ryken et al., 1994).Gliomas are known to occur in association with several other well-defined hereditary tumor syndromes such as mismatch repair cancer syndrome (OMIM ), melanoma-astrocytoma syndrome (OMIM ), neurofibromatosis-1 (NF1 ) and NF2 (OMIM ), and tuberous sclerosis (TSC1 ). Familial clustering of gliomas may occur in the absence of these tumor syndromes, however. Genetic Heterogeneity of Susceptibility to GliomaOther glioma susceptibilities include GLM2 (OMIM ), caused by variation in the PTEN gene (OMIM ) on chromosome 10q23; GLM3 (OMIM ), caused by variation in the BRCA2 gene (OMIM ) on chromosome 13q12; GLM4 (OMIM ), mapped to chromosome 15q23-q26.3; GLM5 (OMIM ), mapped to chromosome 9p21; GLM6 (OMIM ), mapped to chromosome 20q13; GLM7 (OMIM ), mapped to chromosome 8q24; GLM8 (OMIM ), mapped to chromosome 5p15; and GLM9, caused by variation in the POT1 gene (OMIM ) on chromosome 7q31.Somatic mutation, disruption, or copy number variation of the following genes or loci may also contribute to the formation of glioma: ERBB (EGFR ), ERBB2 (OMIM ), LGI1 (OMIM ), GAS41 (OMIM ), GLI (OMIM ), DMBT1 (OMIM ), IDH1 (OMIM ), IDH2 (OMIM ), BRAF (OMIM ), PARK2 (OMIM ), TP53 (OMIM ), RB1 (OMIM ), PIK3CA (OMIM ), 10p15, 19q, and 17p13.3.

Related symptoms:

  • Neoplasm
  • Hydrocephalus
  • Polyhydramnios
  • Melanoma
  • Growth abnormality


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLIOMA SUSCEPTIBILITY 1; GLM1

Medium match HYPOTHALAMIC HAMARTOMAS


Related symptoms:

  • Neoplasm
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

Medium match NEUROCUTANEOUS MELANOCYTOSIS


Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.

NEUROCUTANEOUS MELANOCYTOSIS Is also known as neurocutaneous melanosis|neuromelanosis|ncm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEUROCUTANEOUS MELANOCYTOSIS

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Other less relevant matches:

Medium match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Medium match TUBEROUS SCLEROSIS 1; TSC1


Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tsc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about TUBEROUS SCLEROSIS 1; TSC1

Medium match ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS


Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS Is also known as haberland syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

Medium match 17Q21.31 MICRODELETION SYNDROME


Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012).

17Q21.31 MICRODELETION SYNDROME Is also known as del(17)(q21.31)|monosomy 17q21.31|chromosome 17q21.31 deletion syndrome|microdeletion 17q21.31 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q21.31 MICRODELETION SYNDROME

Medium match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


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 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Low match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Low match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Glioma

Symptoms // Phenotype % cases
Neoplasm Very Common - Between 80% and 100% cases
Astrocytoma Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Hydrocephalus and Glioma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Macrocephaly Hearing impairment Headache Glaucoma Carcinoma Delayed speech and language development Global developmental delay Cleft palate Hamartoma Skin tags Hypertension Behavioral abnormality Brain neoplasm Scoliosis Nevus Cataract Meningioma Intellectual disability, mild Melanocytic nevus Microcephaly Strabismus Increased intracranial pressure Short stature Papule Vomiting Cafe-au-lait spot Hyperactivity Autism Hypothyroidism Intellectual disability, moderate Cerebral calcification Subcutaneous nodule Renal cell carcinoma Visual loss Fibroma Failure to thrive Cryptorchidism Atrial septal defect Lymphoma Leukemia Motor delay Cognitive impairment Dilatation Hemiparesis Abnormal heart morphology Generalized hypotonia Ataxia Papilloma Abnormality of cardiovascular system morphology Pectus excavatum Ventriculomegaly Spasticity Neurofibromas Abnormality of the skeletal system Melanoma Hypertelorism Micrognathia

Rare Symptoms - Less than 30% cases


Microphthalmia Hypoplasia of the corpus callosum Neoplasm of the skin Ventricular septal defect Spina bifida Breast carcinoma Overgrowth Cardiac rhabdomyoma Optic nerve glioma Adenoma sebaceum Aortic aneurysm Ovarian carcinoma Kyphoscoliosis Long fingers Paralysis Precocious puberty Vertebral fusion Heterotopia Abnormality of the sternum Specific learning disability Focal-onset seizure Attention deficit hyperactivity disorder Autistic behavior Abnormality of the kidney Dysarthria Hydronephrosis Coloboma Incoordination Sacral dimple Epicanthus Low-set ears Ptosis Abnormality of the dentition Kyphosis Neoplasm of the central nervous system Subcutaneous lipoma Bone cyst Downslanted palpebral fissures Frontal bossing Lipoma Multiple lipomas Cortical dysplasia Hemangioma Depressivity Scarring Hypotrichosis Joint hypermobility High palate Cleft upper lip Oral cleft Arachnodactyly Pulmonic stenosis Multiple cafe-au-lait spots Palmoplantar keratoderma Iris coloboma Coarctation of aorta Exotropia Neoplasm of the endocrine system Cleft lip Muscle stiffness Brachydactyly Hamartomatous polyposis Skeletal dysplasia Choroid plexus papilloma Venous thrombosis Abnormal facial shape Intracranial hemorrhage Cranial nerve paralysis Sarcoma Leiomyosarcoma Short ribs Blindness Histiocytoma Cellulitis Acute myeloid leukemia Arachnoid cyst Anemia Dandy-Walker malformation Ependymoma Glioblastoma multiforme Schwannoma Weight loss Hip dislocation EEG abnormality Abnormality of skin pigmentation Soft tissue sarcoma Skin rash Proptosis Visual impairment Chronic myelogenous leukemia Renal phosphate wasting Telangiectasia Intestinal polyp Thyroid adenoma Varicocele Endometrial carcinoma Nasolacrimal duct obstruction Colorectal polyposis Progressive macrocephaly Rhabdomyosarcoma Carcinoid tumor Paraganglioma Pseudopapilledema Follicular thyroid carcinoma Fibular bowing Lisch nodules Neurofibrosarcoma Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Abnormality of the penis Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Neuroma Angioid streaks of the fundus Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Renal artery stenosis Single ventricle Pseudoarthrosis Epigastric pain Dural ectasia Night sweats Gastrointestinal stroma tumor Mucosal telangiectasiae Aqueductal stenosis Acrokeratosis Pruritus Hypsarrhythmia Mitral valve prolapse Abnormality of the cardiovascular system Tetralogy of Fallot Ductal carcinoma in situ Gastrointestinal hemorrhage Recurrent fractures Peripheral axonal neuropathy Paresthesia Facial asymmetry Genu valgum Malabsorption Hypertrophic cardiomyopathy Bone pain Hypoglycemia Osteopenia Osteoporosis Cardiomyopathy Respiratory insufficiency Merkel cell skin cancer Peripheral neuropathy Multiple trichilemmomata Hypotrophy of the small hand muscles Abnormality of hair pigmentation Positional foot deformity Broad chin Aganglionic megacolon Sensorimotor neuropathy Anomalous pulmonary venous return Freckling Complete atrioventricular canal defect Pheochromocytoma Parathyroid adenoma Wide nasal bridge Transitional cell carcinoma of the bladder Myocardial fibrosis Neoplasm of the thyroid gland Gangrene Increased reactive oxygen species production Overweight Severe vision loss Osteomalacia Fibroadenoma of the breast Conjunctival hamartoma Tibial bowing Pulmonary fibrosis Cutis marmorata telangiectatica congenita Hypophosphatemia Enlarged cerebellum Trichilemmoma Sensory axonal neuropathy Clitoral hypertrophy Back pain Dysplastic gangliocytoma of the cerebellum Reduced bone mineral density Atherosclerosis Colonic diverticula Enlarged polycystic ovaries Decreased proportion of CD4-positive T cells Calcification of falx cerebri Macule Cardiac fibroma Bridged sella turcica Abnormality of the thyroid gland Cystic hygroma Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Bifid ribs Hyperthyroidism Curved fingers Ovarian neoplasm Hand polydactyly Orbital cyst Thyroiditis Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Hodgkin lymphoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Hashimoto thyroiditis Cutis marmorata Irregular ossification of hand bones Pear-shaped nose Nausea and vomiting Intention tremor Decreased antibody level in blood Macroglossia Chronic diarrhea Abnormal cerebellum morphology Gynecomastia Hypoplasia of the maxilla Lymphopenia Polymicrogyria Drooling Hypopigmented skin patches Goiter Hamartomatous stomach polyps Palmoplantar hyperkeratosis Proximal muscle weakness Dysdiadochokinesis Narrow mouth Recurrent infections Immunodeficiency Diarrhea Myopathy Tremor Skeletal muscle atrophy Myopia Muscle weakness Scaphocephaly Cervical ribs Generalized hyperkeratosis Carious teeth Hemivertebrae Hypogonadotrophic hypogonadism Ovarian cyst Bradycardia Hyperpigmentation of the skin Abnormality of the ribs Hypotension Intestinal polyposis Cellular immunodeficiency Long penis Postaxial polydactyly Sparse hair Abnormality of the uterus Facial palsy Telecanthus Cavernous hemangioma Proteinuria Coarse facial features Retrognathia Broad thumb Mandibular prognathia Polydactyly Abdominal pain Brachycephaly Syndactyly Spina bifida occulta Furrowed tongue Supernumerary ribs Sprengel anomaly Ectopic calcification Medulloblastoma Abnormality of the vasculature Ulcerative colitis Broad face Abnormality of the neck Short 4th metacarpal Papilledema Down-sloping shoulders Fragile nails Narrow nose Thoracic scoliosis Relative macrocephaly Colitis Agenesis of permanent teeth Basal cell carcinoma Prolactin excess Megalencephaly Hydrocele testis Arteriovenous malformation Milia Disproportionate tall stature Inflammation of the large intestine Nephritis Glomerulonephritis Conspicuously happy disposition High forehead Narrow palm Retinal detachment CNS hypomyelination Tachypnea Hypoplasia of dental enamel Cardiomegaly Generalized-onset seizure Brain atrophy Gliosis Chest pain Renal cyst Hypopigmentation of the skin Sleep disturbance Nausea Nephroblastoma Abnormality of the cerebral white matter Cough Stroke Irritability Dyspnea Respiratory failure Arrhythmia Renal insufficiency Congestive heart failure Respiratory distress Neuroblastic tumors Pineoblastoma Polycystic kidney dysplasia Infantile spasms Pinealoma Subependymal nodules Hypertonia Projection of scalp hair onto lateral cheek Achromatic retinal patches Subungual fibromas Rhabdomyoma Connective tissue nevi Pulmonary lymphangiomyomatosis Chordoma Cortical tubers Ungual fibroma Dental enamel pits Hypomelanotic macule Angiofibromas Hyperventilation Renal angiomyolipoma Premature chromatid separation Shagreen patch Flank pain Chylothorax Gingival fibromatosis Pneumothorax Wolff-Parkinson-White syndrome White hair Renal neoplasm Generalized hypopigmentation Abnormality of the respiratory system Retinal calcification Iris neovascularization Alopecia Hypothalamic hamartoma Generalized hyperpigmentation Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Chorioretinal coloboma Encephalitis Arnold-Chiari malformation Renal hypoplasia/aplasia Generalized hirsutism Abnormality of retinal pigmentation Thickened skin Mental deterioration Abnormality of the nervous system Anterior hypopituitarism Meningocele Microglossia Median cleft lip Occipital encephalocele Renal dysplasia Postaxial hand polydactyly Pulmonary hypoplasia Micromelia Micropenis Short nose Depressed nasal bridge Growth abnormality Polyhydramnios Syringomyelia Spinal cord compression Pineal cyst Vitreous hemorrhage Ewing sarcoma Hyphema Neoplasm of the eye Sebaceous gland carcinoma Liposarcoma Vitritis Burkitt lymphoma Fibrosarcoma Malar rash Leukocoria Anisocoria Ocular pain Retinoblastoma Numerous congenital melanocytic nevi Inflammatory abnormality of the eye Buphthalmos Acute monocytic leukemia Anemia of inadequate production Osteosarcoma Chromosome breakage Uveitis Myelodysplasia Anorexia Postural instability Malar flattening Nystagmus Cerebral atrophy Cerebellar hypoplasia Multifocal epileptiform discharges Abnormality of the foot Wide intermamillary distance Otitis media Underdeveloped nasal alae Vesicoureteral reflux Everted lower lip vermilion Small hand High, narrow palate Bulbous nose Long face Dry skin Poor speech Hypermetropia Eczema Small for gestational age Broad forehead Prominent nasal bridge Abnormal cardiac septum morphology Blepharophimosis Protruding ear Pallor Feeding difficulties in infancy Joint laxity Anxiety Conductive hearing impairment Pes planus Hip dysplasia Hypotelorism Upslanted palpebral fissure Elbow dislocation Expressive language delay Prominent fingertip pads Chronic infection Anteverted ears Abnormality of the head Abnormality of hair texture Spondylolisthesis Prominent metopic ridge Slender finger Impulsivity Overfolded helix Sparse eyebrow Failure to thrive in infancy Status epilepticus Pyloric stenosis Nasal speech Abnormality of the urinary system Laryngomalacia Abnormality of the genitourinary system Bicuspid aortic valve Widely spaced teeth Narrow palpebral fissure Joint dislocation Narrow palate Abnormality of the genital system Open mouth Macrotia Hypospadias Agenesis of corpus callosum Lipodystrophy Eyelid coloboma Abnormal eyelid morphology Sclerocornea Capillary hemangioma Abnormality of the skull Abnormal eyelash morphology Nevus flammeus Hypoplasia of the iris Aplasia cutis congenita Absent septum pellucidum Dysphasia Aphasia Hemiplegia Ectopia pupillae Mutism Osteolysis Aortic valve stenosis Abnormality of the face Pulmonary arterial hypertension Intellectual disability, profound Tetraplegia Neurological speech impairment Corneal opacity Retinopathy Rigidity Cerebral cortical atrophy Dysostosis multiplex Echolalia Absent speech Tricuspid valve prolapse Long philtrum Intrauterine growth retardation Lipomas of the central neryous system Abnormal cartilage morphology Linear hyperpigmentation Osteochondrosis Odontoma Neurodevelopmental abnormality Neoplasm of the skeletal system Pelvic kidney Chorioretinitis Hemiatrophy Epibulbar dermoid Hemihypertrophy Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Abnormal anterior chamber morphology Alopecia areata Abnormal aortic morphology Visceral angiomatosis Interrupted aortic arch Porencephalic cyst Peripheral pulmonary artery stenosis Subvalvular aortic stenosis Craniofacial hyperostosis Xanthomatosis Lobular carcinoma in situ



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