Hepatomegaly, and Thick eyebrow

Diseases related with Hepatomegaly and Thick eyebrow

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

Top matches:

The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.

MULTIPLE SULFATASE DEFICIENCY Is also known as sulfatidosis, juvenile, austin type|mucosulfatidosis|juvenile sulfatidosis, austin type|msd

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE SULFATASE DEFICIENCY

Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

Other less relevant matches:

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

ACROOSTEOLYSIS DOMINANT TYPE Is also known as acrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|cheney syndrome|hajdu-cheney syndrome|arthrodentoosteodysplasia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about ACROOSTEOLYSIS DOMINANT TYPE

High match ACROOSTEOLYSIS

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

High match HURLER SYNDROME

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

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

Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.

NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME Is also known as ihsc|neonatal ichthyosis-sclerosing cholangitis syndrome|ichthyosis-hypotrichosis-sclerosing cholangitis syndrome|ichthyosis-sclerosing cholangitis syndrome|nisch syndrome

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Alopecia
  • Jaundice
  • Scarring


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME

Top 5 symptoms//phenotypes associated to Hepatomegaly and Thick eyebrow

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Splenomegaly Very Common - Between 80% and 100% cases
Coarse facial features Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hepatomegaly and Thick eyebrow. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Short neck

Uncommon Symptoms - Between 30% and 50% cases

Hydrocephalus

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Hernia

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of the skeletal system

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Inguinal hernia

Common Symptoms - More than 50% cases

Hypertrichosis

Uncommon Symptoms - Between 30% and 50% cases

Synophrys

Common Symptoms - More than 50% cases

Umbilical hernia

Uncommon Symptoms - Between 30% and 50% cases

Anteverted nares Wide nasal bridge Sensorineural hearing impairment Myopia Dysostosis multiplex Pectus carinatum Hepatosplenomegaly Skeletal dysplasia Kyphosis Abnormality of the dentition Hirsutism Prominent forehead Depressed nasal bridge Cataract Neurodegeneration Low-set ears Corneal opacity Long philtrum Headache Osteopenia Macroglossia Low anterior hairline Thickened skin Generalized hirsutism Recurrent respiratory infections Respiratory tract infection Dry skin Generalized hypotonia Micrognathia Cardiomyopathy Mandibular prognathia Gingival overgrowth Widely spaced teeth Behavioral abnormality Delayed speech and language development Hypertension Seizures Coarse hair Hypospadias Bowing of the long bones Recurrent upper respiratory tract infections Full cheeks Brachydactyly Downturned corners of mouth Wide nose Thin vermilion border Biconcave vertebral bodies Muscular hypotonia Failure to thrive Dolichocephaly Sleep disturbance Cleft palate Growth delay Cognitive impairment Telecanthus Wide mouth Talipes equinovarus Joint stiffness Genu valgum Downslanted palpebral fissures Heparan sulfate excretion in urine Patellar dislocation Optic atrophy High palate Ventriculomegaly Frontal bossing Spasticity Ventricular septal defect Nystagmus Narrow mouth Mental deterioration Patent ductus arteriosus Dyspnea Short distal phalanx of finger Open bite Strabismus Retinal degeneration Flexion contracture Kyphoscoliosis Intellectual disability, severe Progressive neurologic deterioration Delayed eruption of teeth Recurrent infections Hip dysplasia

Rare Symptoms - Less than 30% cases

Proximal tapering of metacarpals J-shaped sella turcica Abnormality of the gingiva Protruding tongue Abnormality of joint mobility Intellectual disability, profound Thick vermilion border Joint hypermobility Broad forehead Macrotia Pneumonia Vomiting Dermatan sulfate excretion in urine Congestive heart failure Decreased pulmonary function Feeding difficulties Short toe Peripheral neuropathy Malar flattening Mitral stenosis Platybasia Rough bone trabeculation Absent frontal sinuses Hypoplastic 5th lumbar vertebrae Partial absence of toe Pain Thickened calvaria Periodontitis Dental malocclusion Heart murmur Prominent supraorbital ridges Increased intracranial pressure Skeletal muscle atrophy Depressivity Delayed skeletal maturation Otitis media Decreased skull ossification Abnormality of the skull Osteoporosis Prominent sternum Arthralgia Delayed puberty Joint hyperflexibility Iris coloboma Recurrent fractures Intestinal malrotation Bone pain Aortic valve stenosis Multiple renal cysts Skin ulcer Wormian bones Abnormality of the fingernails Osteolysis Arnold-Chiari malformation Abnormality of the voice Prominent occiput Syringomyelia Glaucoma Recurrent ear infections Proptosis Epicanthus Elbow flexion contracture Long eyelashes Abnormality of peripheral nerve conduction Mucopolysacchariduria Urinary glycosaminoglycan excretion Motor delay Thoracolumbar kyphosis Ichthyosis Hypertonia Intellectual disability, mild Dilatation Arrhythmia Severe short stature Polyhydramnios Microdontia Peripheral demyelination Dysmetria Postnatal growth retardation Chronic diarrhea Dysarthria Dysphagia Diarrhea Hyperactivity Aggressive behavior Thick lower lip vermilion Progressive hearing impairment Abnormality of the cerebral white matter Growth abnormality Microcephaly Ataxia Hyperreflexia Cerebellar atrophy Cerebral atrophy Abnormality of dental enamel Hypertrophic cardiomyopathy Edema Highly arched eyebrow Hypoplasia of the odontoid process Opacification of the corneal stroma Conductive hearing impairment Webbed neck Broad ribs Lumbar hyperlordosis Pallor Craniosynostosis Vertigo High, narrow palate Abnormal heart valve morphology Metatarsus adductus Retinal fold Delayed ossification of carpal bones Enlarged vertebral pedicles Deformed humerus Thick skull base Diaphyseal thickening Abnormality of the elbow Anterior open bite Rhinitis Abnormal diaphysis morphology Thoracic scoliosis Short clavicles Palpebral edema Shallow orbits Spinal canal stenosis Peripheral visual field loss Broad ischia Protuberant abdomen Delayed tarsal ossification Bullet-shaped phalanges of the hand Chronic rhinitis Delayed ossification of the hand bones Syndactyly Large face Atrial septal defect Intrauterine growth retardation Fever Anemia Ptosis Cryptorchidism Sclerosis of skull base Neoplasm Difficulty standing Abnormal mandibular ramus morphology Broad long bone diaphyses Abnormality of premolar morphology Abnormal mandible coronoid process morphology Restrictive ventilatory defect Stiff interphalangeal joints Thrombocytopenia Arthropathy Abnormality of the tympanic membrane Abnormal nerve conduction velocity Abnormality of glycosaminoglycan metabolism Increased size of nasopharyngeal adenoids Abnormality of the wing of the ilium Recurrent lower respiratory tract infections Constrictive median neuropathy Broad femoral neck Abnormality of mucopolysaccharide metabolism Abnormal mitral valve morphology Abnormality of lysosomal metabolism Mandibular condyle hypoplasia Cervical subluxation Hypoplastic cervical vertebrae Enlarged tonsils C1-C2 subluxation Abnormality of the tonsils Calcification of falx cerebri Hypoplasia of the femoral head Abnormality of the pubic bone Lumbar kyphosis Foam cells Abnormal CNS myelination Seborrheic dermatitis Cervical kyphosis Short mandibular rami Hernia of the abdominal wall Thoracolumbar kyphoscoliosis Calvarial hyperostosis Cervical myelopathy Abnormality of the middle ear ossicles Enlargement of the wrists Abnormal hand morphology Pulmonary edema Hip subluxation Obstructive sleep apnea Rhinorrhea Endocardial fibroelastosis Gingivitis Meckel diverticulum Diastasis recti Abnormality of the respiratory system Tracheal stenosis Beaking of vertebral bodies Large earlobe Communicating hydrocephalus Upper airway obstruction Hypoplastic ilia Myelopathy Atlantoaxial dislocation Angina pectoris Conical tooth Sagittal craniosynostosis Cor pulmonale Narrow pelvis bone Flared nostrils Hypoplasia of teeth Flared iliac wings Abnormal aortic valve morphology Flaring of rib cage Large sella turcica Anterior rib cupping Abnormality of the clavicle Choanal atresia Clinodactyly Phocomelia Reduced renal corticomedullary differentiation Otitis media with effusion Malrotation of colon Duplication of internal organs Projectile vomiting Left-to-right shunt Hypertropia Esophageal stenosis Hypoplastic male external genitalia Curly eyelashes Absent hand Gastroparesis Supernumerary ribs Hand oligodactyly Hypoplastic radial head Perimembranous ventricular septal defect Short sternum Peters anomaly Panhypopituitarism Volvulus Recurrent hypoglycemia Thick upper lip vermilion Optic nerve coloboma Abnormality of the gastrointestinal tract Hypoplastic labia majora Esophagitis Aspiration pneumonia Hiatus hernia Abnormality of the umbilicus Dysplastic tricuspid valve Ectrodactyly Scaling skin Absent hair Sclerosing cholangitis Scarring alopecia of scalp Hypotrichosis of the scalp Orthokeratosis Thick hair Concave nail Cholangitis Alopecia of scalp Parakeratosis Abnormality of blood and blood-forming tissues Sparse body hair Erythroderma Portal hypertension Alopecia Oligodontia Acanthosis nigricans Sparse eyelashes Hyperbilirubinemia Sparse and thin eyebrow Hypoplasia of dental enamel Cholestasis Epidermal acanthosis Hepatitis Hypodontia Hypotrichosis Scarring Jaundice Poor appetite Oligodactyly Abnormal heart morphology Hip dislocation Sepsis Triangular face Renal cyst Microcornea Tapered finger Single transverse palmar crease Small hand Pulmonary hypoplasia Cleft upper lip Astigmatism Micromelia Toe syndactyly Pulmonic stenosis Small for gestational age Congenital diaphragmatic hernia Prominent nasal bridge Autistic behavior Abnormality of the pinna Camptodactyly Proteinuria Hypoglycemia Thin upper lip vermilion Retrognathia Gastroesophageal reflux Autism Brachycephaly Hyperhidrosis Clinodactyly of the 5th finger Vesicoureteral reflux High myopia Hypoplastic nipples Pyloric stenosis Dislocated radial head Weak cry Abnormality of digit Limited elbow extension Opisthotonus Ectopic kidney 2-3 toe syndactyly Short middle phalanx of finger Cutis marmorata Tricuspid regurgitation Clubbing Proximal placement of thumb Self-injurious behavior Short metatarsal Blue sclerae Deep philtrum Incoordination Abnormality of the urinary system Hypoplasia of the radius Relative macrocephaly Torticollis Spontaneous abortion Increased body weight Aspiration Recurrent urinary tract infections Flared metaphysis Low posterior hairline Renal hypoplasia Coronary artery atherosclerosis Bowing of the legs Multiple joint contractures Spina bifida occulta Gingival fibromatosis Long penis Colpocephaly Thin bony cortex Dystrophic fingernails Aortic root aneurysm Pericardial effusion Anonychia Large for gestational age Metaphyseal widening Hemangioma Accelerated skeletal maturation Cavernous hemangioma Intellectual disability, progressive Hemivertebrae Nephrolithiasis Small nail Bilateral sensorineural hearing impairment Overgrowth Bulbous nose Congenital cataract Protruding ear Polydactyly Posteriorly rotated ears Anterior beaking of lower thoracic vertebrae Hyperextensibility of the finger joints Biliary atresia Pseudoarthrosis Glomerulonephritis Myopathy Gait disturbance Muscle weakness Osteolytic defects of the phalanges of the toes Basilar invagination Premature loss of permanent teeth Basilar impression Flank pain Respiratory arrest Osteolytic defects of the phalanges of the hand Delayed cranial suture closure Polycystic kidney dysplasia Generalized hypertrichosis Hematuria Paresthesia Abnormality of the kidney Joint laxity Abnormality of the mandible Hypoplasia of the zygomatic bone Abnormality of cardiovascular system morphology Mesiodens Short distal phalanx of toe Prominent eyelashes Aortic arch aneurysm Everted upper lip vermilion Anterior beaking of lumbar vertebrae Snoring Midface retrusion Broad thumb CNS demyelination Olivopontocerebellar atrophy Broad hallux phalanx Developmental stagnation Large forehead Increased CSF protein Abnormality of the periventricular white matter Lower limb hyperreflexia Broad hallux Leukodystrophy Abnormality of retinal pigmentation Flat face Hypoplastic vertebral bodies Smooth philtrum Skin rash Developmental regression Neonatal hypotonia Visual impairment Cellular metachromasia Ovoid thoracolumbar vertebrae Thickened ribs Asymmetric septal hypertrophy Drooling Difficulty walking Absent speech Periorbital edema Retrocerebellar cyst Narrow greater sacrosciatic notches Cardiac arrest Thoracic kyphoscoliosis Acetabular dysplasia Pulmonary insufficiency Nonimmune hydrops fetalis Thoracolumbar scoliosis Spinal cord compression Thoracic kyphosis Hyperactive deep tendon reflexes Mild short stature Spondyloepiphyseal dysplasia Pleural effusion Pterygium Hydrops fetalis Rapid neurologic deterioration Broad-based gait Spastic tetraplegia Tetraplegia Ascites Facial asymmetry Poor speech Platyspondyly Hyperlordosis Intellectual disability, moderate Muscular hypotonia of the trunk Abnormality of the nervous system Short nose Immunodeficiency Areflexia Toe walking Abnormal pyramidal sign Limitation of joint mobility Asthma Broad nasal tip Everted lower lip vermilion Inability to walk Abnormality of skin pigmentation Abnormality of eye movement Carious teeth Severe global developmental delay Stroke Nyctalopia Camptodactyly of finger Progressive visual loss Retinopathy Apnea Elevated hepatic transaminase Abdominal pain Pes cavus Constipation Visual loss Respiratory insufficiency Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of the skin Abnormality of the cardiovascular system Antineutrophil antibody positivity Coxa valga Stridor Language impairment Hemiplegia Back pain Hyperammonemia Sleep apnea Corneal dystrophy Cerebral palsy Aortic regurgitation Coxa vara Spastic paraparesis Abnormal vertebral morphology Abnormality of the ribs Exotropia Abnormality of epiphysis morphology Left ventricular hypertrophy Decreased body weight Encephalocele Abnormal form of the vertebral bodies Mitral regurgitation Split hand Recurrent otitis media Myocardial infarction Interphalangeal joint contracture of finger Cardiomegaly Abnormality of dental structure Abnormality of the ilium Babinski sign Pancytopenia Flat occiput Chronic otitis media Recurrent bacterial infections Narrow palate Spastic gait Hallucinations Limb ataxia Amblyopia Tall stature Depressed nasal ridge Psychosis Type II diabetes mellitus Neurodevelopmental delay Optic disc pallor Decreased antibody level in blood Delayed myelination Gliosis Progressive cerebellar ataxia Confusion Abnormality of the foot Hypermetropia Neurological speech impairment Anxiety Arthritis Gait ataxia Bowel incontinence Femoral bowing Hypoplastic inferior ilia Synovitis Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Cranial hyperostosis Vacuolated lymphocytes Abnormal echocardiogram Abnormal cornea morphology Abnormality of the sternum Abnormality of the rib cage Craniofacial hyperostosis Spondylolisthesis Abnormality of the helix Reduced ejection fraction Hydrocele testis Impaired smooth pursuit Delusions Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Bronchitis Acute hepatitis


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