Hydrocephalus, and Proteinuria

Diseases related with Hydrocephalus and Proteinuria

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


Top matches:

Medium match RENAL COLOBOMA SYNDROME


Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

RENAL COLOBOMA SYNDROME Is also known as renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|papillo-renal syndrome|coloboma of optic nerve with renal disease|renal-coloboma s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RENAL COLOBOMA SYNDROME

Medium match OROFACIODIGITAL SYNDROME I; OFD1


Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

Low match COCKAYNE SYNDROME TYPE 2


Caused by mutations of gene ERCC6.

COCKAYNE SYNDROME TYPE 2 Is also known as cockayne syndrome type ii

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COCKAYNE SYNDROME TYPE 2

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Other less relevant matches:

Low match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Low match COCKAYNE SYNDROME TYPE 1


Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (Nance and Berry, 1992).Lowry (1982) noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. Lowry (1982) thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. Mallery et al. (1998) found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment. Genetic Heterogeneity of Cockayne SyndromeCockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; XPG/CS (see {278780}), caused by mutation in the ERCC5 gene (OMIM ) on chromosome 13q33; XPB/CS (see {610651}), caused by mutation in the ERCC3 gene (OMIM ) on chromosome 2q21; and XPF/CS (see {278760}), caused by mutation in the ERCC4 gene (OMIM ) on chromosome 16p13.Rapin et al. (2000) reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex.

COCKAYNE SYNDROME TYPE 1 Is also known as cockayne syndrome type i

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COCKAYNE SYNDROME TYPE 1

Low match GAUCHER DISEASE TYPE 3


Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Low match GALLOWAY-MOWAT SYNDROME


Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|scar5, formerly|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME

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 CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Low match GALLOWAY-MOWAT SYNDROME 5; GAMOS5


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism and ear abnormalities. Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 5; GAMOS5

Top 5 symptoms//phenotypes associated to Hydrocephalus and Proteinuria

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Ataxia

Common Symptoms - More than 50% cases


Cataract

Uncommon Symptoms - Between 30% and 50% cases


Renal insufficiency

Common Symptoms - More than 50% cases


Hypertension

Uncommon Symptoms - Between 30% and 50% cases


Tremor Failure to thrive Spasticity Mandibular prognathia Hypertelorism Carious teeth Cerebral atrophy Sparse hair Intellectual disability, severe Cryptorchidism Abnormality of the dentition Sensorineural hearing impairment Optic atrophy Intrauterine growth retardation Epicanthus Low-set ears Abnormal facial shape Anemia Microphthalmia Micrognathia Hypertonia Arachnodactyly Hematuria Syndactyly Dry hair Telecanthus Depressivity Wide nasal bridge Dysarthria High palate Cleft palate Muscle weakness Hepatomegaly Vomiting Abnormality of skin pigmentation Thrombocytopenia Feeding difficulties Growth delay Generalized hypotonia Opacification of the corneal stroma Pigmentary retinopathy Limitation of joint mobility Small for gestational age Flexion contracture Prominent nasal bridge Neoplasm Scoliosis Severe short stature Arrhythmia Kyphosis Splenomegaly Retinopathy Abnormality of the pinna Dementia Nephropathy Glaucoma Abnormality of the kidney Edema Myopia Stage 5 chronic kidney disease Visual impairment

Rare Symptoms - Less than 30% cases


Square pelvis bone Delayed eruption of primary teeth Progeroid facial appearance Hypoplastic iliac wing Hypoplastic pelvis Hypoplasia of teeth Abnormal auditory evoked potentials Decreased lacrimation Peripheral dysmyelination Loss of facial adipose tissue Normal pressure hydrocephalus Atypical scarring of skin Severe photosensitivity Slender nose Ivory epiphyses of the phalanges of the hand Increased cellular sensitivity to UV light Gait disturbance Projectile vomiting Dental malocclusion Hypermetropia Congenital cataract Dry skin Renal hypoplasia Polyneuropathy Microcornea Opisthotonus Vesicoureteral reflux Clubbing Cutaneous photosensitivity Gliosis Decreased nerve conduction velocity Anhidrosis Reduced subcutaneous adipose tissue Peripheral demyelination Basal ganglia calcification Abnormality of visual evoked potentials Hypoplasia of the iris Muscular hypotonia Patchy demyelination of subcortical white matter Disproportionate tall stature Pulmonary arterial hypertension Recurrent urinary tract infections Anorexia Atherosclerosis Pallor Aggressive behavior Relative macrocephaly Abnormality of eye movement Abdominal pain Delayed skeletal maturation Dystonia Reduced visual acuity Supernumerary ribs Neoplasm of the skin Cerebral calcification Pancytopenia Ascites Macrocephaly Cerebral cortical atrophy Deeply set eye Confusion Hypoalbuminemia Abnormality of the skeletal system Congestive heart failure Coloboma Sleep disturbance Brachycephaly Cleft upper lip Proptosis Macrotia Difficulty walking Mental deterioration Retrognathia Hip dislocation Malabsorption Postnatal growth retardation Thickened calvaria Ptosis Focal segmental glomerulosclerosis Polydactyly Aspiration pneumonia Downslanted palpebral fissures Hiatus hernia Pachygyria Ventriculomegaly Frontal bossing Talipes equinovarus Gastroesophageal reflux Abnormal heart morphology Glomerulosclerosis Delayed speech and language development Milia Dilatation Agenesis of permanent teeth Aspiration Camptodactyly Clinodactyly Esophagitis Optic nerve coloboma Abnormality of the sternum Cleft lip Chronic kidney disease Osteoporosis Nephritis Brachydactyly Nephrotic syndrome Oral cleft Postaxial polydactyly Orbital cyst Pneumonia Micropenis Brain atrophy Hernia EEG abnormality Nevus Hypotension Hyperpigmentation of the skin Exotropia Abnormality of the ribs Hemiparesis Spina bifida Narrow forehead Bradycardia Congenital nephrotic syndrome Hemivertebrae Short ribs Vertebral fusion Abnormality of the neck Short 4th metacarpal Tetraplegia Skin tags Down-sloping shoulders Fragile nails Chorea Narrow nose Sprengel anomaly Thoracic scoliosis Colitis Long fingers Muscle stiffness Basal cell carcinoma Delayed myelination Inflammation of the large intestine Premature birth Melanocytic nevus Glomerulonephritis Prominent nose Spina bifida occulta Dandy-Walker malformation Hypogonadotrophic hypogonadism Sloping forehead Palmoplantar keratoderma Kyphoscoliosis Iris coloboma Thyroid dysgenesis Congenital hypothyroidism Abnormality of immune system physiology Proportionate short stature Adrenal hypoplasia Mild microcephaly Tubular atrophy Diffuse cerebral atrophy Aqueductal stenosis Spastic ataxia Abnormal renal physiology Periorbital edema Abnormality of neuronal migration Laryngospasm Hand clenching Narrow nasal ridge Diaphragmatic eventration Diffuse mesangial sclerosis Axial dystonia Abnormality of the intervertebral disk Hypoplasia of the ear cartilage Encephalomalacia Albuminuria Slender finger Hemiplegia/hemiparesis Hypotrichosis Pectus excavatum Papule Facial palsy Carcinoma Coarse facial features Oligohydramnios Hypotelorism Spastic tetraplegia Hypsarrhythmia Small nail Visual loss Heterotopia Flat occiput Postnatal microcephaly Progressive microcephaly Joint contracture of the hand Motor delay Pain Severe muscular hypotonia Lissencephaly Hyperkinesis Adducted thumb Hypoplasia of the brainstem Tricuspid regurgitation Fever Neoplasm of the endocrine system Pulmonary hypoplasia Otitis media Webbed neck Abnormality of the gastrointestinal tract Sepsis Triangular face Renal cyst Delayed eruption of teeth Tapered finger Single transverse palmar crease Highly arched eyebrow Small hand High, narrow palate Downturned corners of mouth Hirsutism Thick eyebrow Congenital diaphragmatic hernia Thick upper lip vermilion Recurrent hypoglycemia Volvulus Panhypopituitarism Peters anomaly Short sternum Perimembranous ventricular septal defect Hand oligodactyly Phocomelia Gastroparesis Absent hand Curly eyelashes Hypoplastic male external genitalia Esophageal stenosis Microdontia High myopia Left-to-right shunt Hypoplastic labia majora Short middle phalanx of finger 2-3 toe syndactyly Ectopic kidney Limited elbow extension Abnormality of digit Weak cry Dislocated radial head Hypoplastic nipples Oligodactyly Proximal placement of thumb Self-injurious behavior Ectrodactyly Poor appetite Pyloric stenosis Short metatarsal Blue sclerae Deep philtrum Incoordination Abnormality of the urinary system Hypoplasia of the radius Widely spaced teeth Torticollis Spontaneous abortion Elbow flexion contracture Increased body weight Low anterior hairline Long eyelashes Choanal atresia Hypertrichosis Low posterior hairline Hypertropia Duplication of internal organs Hypoplastic radial head Short distal phalanx of the thumb Depressed nasal bridge Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Palmar pits Severe hydrocephalus Ventricular septal defect Multiple impacted teeth Ovarian carcinoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Fibroma Hamartomatous polyposis Cervical ribs Ectopic calcification Medulloblastoma Astrocytoma Brain neoplasm Ulcerative colitis Broad face Cutis marmorata Anteverted nares Malrotation of colon Hypoglycemia Thin vermilion border Vertigo Astigmatism Micromelia Toe syndactyly Pulmonic stenosis Otitis media with effusion Reduced renal corticomedullary differentiation Synophrys Craniosynostosis Autistic behavior Respiratory tract infection Hypertrophic cardiomyopathy Conductive hearing impairment Thin upper lip vermilion Short neck Autism Narrow mouth Hyperactivity Hyperhidrosis Prominent forehead Clinodactyly of the 5th finger Inguinal hernia Hypospadias Abnormality of the umbilicus Headache Long philtrum Behavioral abnormality Atrial septal defect Cardiomyopathy Hypopigmentation of the skin Hydrops fetalis Inability to walk Dermal atrophy Lethargy Feeding difficulties in infancy Arthritis High forehead Acidosis Gait ataxia Weight loss Respiratory insufficiency Cerebellar calcifications Subcortical white matter calcifications Abnormal peripheral myelination Severe failure to thrive Abnormality of the hair Smooth philtrum Trident hand Abnormality of toe Multiple glomerular cysts Alveolar ridge overgrowth Gray matter heterotopias Hypothalamic hamartoma Tongue nodules Lobulated tongue Narrow naris Deviation of finger Pancreatic cysts Hepatic cysts Lower limb muscle weakness Unsteady gait Ovarian cyst Slurred speech Hemolytic-uremic syndrome Right ventricular failure Gastritis Myelopathy Homocystinuria Methylmalonic aciduria Cor pulmonale Megaloblastic anemia Thromboembolism Apathy Ectopia lentis Hemiplegia Abnormality of retinal pigmentation Paresthesia Broad-based gait Psychosis Abnormality of extrapyramidal motor function Memory impairment Aciduria Urinary incontinence Neutropenia Metabolic acidosis Hepatic steatosis Hemolytic anemia Joint hypermobility Long face Retinal degeneration Porencephalic cyst Abnormality of the pancreas Methylmalonic acidemia Chorioretinal atrophy Platybasia Pyelonephritis Ureteropelvic junction obstruction High-frequency hearing impairment Retinal coloboma Hydrocele testis Elevated serum creatinine Multiple renal cysts Abnormality of the vasculature Soft skin Arnold-Chiari type I malformation Severe vision loss Visual field defect Bilateral renal hypoplasia Hyperextensible skin Abnormality of the genitourinary system Macular degeneration Multicystic kidney dysplasia Horseshoe kidney Nephrolithiasis Renal dysplasia Abnormality of the genital system Progressive visual loss Retinal detachment Joint hyperflexibility Joint laxity Hydronephrosis Lens luxation Mild proteinuria Bifid tongue Hepatic fibrosis Abnormal cortical gyration Myelomeningocele Arachnoid cyst Median cleft lip Increased number of teeth Atrioventricular canal defect Nephronophthisis Molar tooth sign on MRI Radial deviation of finger Polycystic kidney dysplasia Cutaneous syndactyly Microretrognathia Hypoplasia of dental enamel Optic nerve dysplasia Underdeveloped nasal alae Bifid uvula Abnormal cerebellum morphology Facial asymmetry Abnormality of the cerebral white matter Agenesis of corpus callosum Alopecia Ureterovesical junction obstruction Recurrent pyelonephritis Macular hyperpigmentation Morning glory anomaly Renal malrotation Scleral staphyloma Atrophy of the spinal cord Chronic hemolytic anemia Talipes Thoracic kyphosis Generalized osteosclerosis Astrocytosis Protein-losing enteropathy Restrictive deficit on pulmonary function testing Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Abnormal myocardium morphology Multiple myeloma Supranuclear gaze palsy Hypercoagulability Vertebral compression fractures Slow saccadic eye movements Hepatocellular carcinoma Spontaneous hematomas Aseptic necrosis Abnormal heart valve morphology Exertional dyspnea Bulbar palsy Lower limb hyperreflexia Abnormal retinal morphology Pericardial effusion Interstitial pulmonary abnormality Restrictive ventilatory defect Petechiae Increased antibody level in blood Pulmonary fibrosis Abnormal thrombosis Aortic valve calcification Abnormality of the thorax Midface retrusion Poor speech Abnormality of the foot Severe global developmental delay Camptodactyly of finger Wide mouth Irritability Abnormality of the eye Muscular hypotonia of the trunk Hypothyroidism Pes cavus Cerebellar hypoplasia Absent speech Cerebellar atrophy Abnormal saccadic eye movements Hypoplasia of the corpus callosum Hyperreflexia Cognitive impairment Sleep myoclonus Abnormality of the acoustic reflex Abnormality of ion homeostasis Cardiac valve calcification Horizontal supranuclear gaze palsy Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Erlenmeyer flask deformity of the femurs Orthopnea Mitral valve calcification Menorrhagia Portal hypertension Abnormality of macular pigmentation Leukodystrophy Encephalopathy Diarrhea Dysphagia Fatigue Thymic hormone decreased Chorioretinitis Retinal pigment epithelial mottling CNS demyelination Menstrual irregularities Severe postnatal growth retardation Large hands Knee flexion contracture Hypogonadism Myoclonus Thyroglossal cyst Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Delirium Recurrent respiratory infections Dyspnea Cholelithiasis Syncope Increased susceptibility to fractures Leukopenia Oculomotor apraxia Osteolysis Increased bone mineral density Lymphopenia Bone pain Decreased body weight Progressive neurologic deterioration Intention tremor Epistaxis Cyanosis Abnormal bleeding Osteopenia Progressive cerebellar ataxia Generalized myoclonic seizures Abdominal distention Neurodegeneration Cirrhosis Lymphadenopathy Delayed puberty Ophthalmoplegia Generalized tonic-clonic seizures Corneal opacity Abnormal pyramidal sign Rigidity Hepatosplenomegaly Dysplastic tricuspid valve



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Camptodactyly of finger, related diseases and genetic alterations Melanoma and Azoospermia, related diseases and genetic alterations Delayed speech and language development and Brachycephaly, related diseases and genetic alterations

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