Cardiomyopathy, and Aggressive behavior
Diseases related with Cardiomyopathy and Aggressive behavior
In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Aggressive behavior that can help you solving undiagnosed cases.
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NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by Wortmann et al., 2017).
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
SOURCES:
OMIM
MENDELIAN
More info about NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS
HSD10 mitochondrial disease most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction. Some affected males have a severe infantile form associated with cardiomyopathy that may result in death in early childhood, whereas other rare patients may have juvenile onset or even atypical presentations with normal neurologic development. More severely affected males show developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Although the diagnosis can be aided by the observation of increased urinary levels of metabolites of isoleucine breakdown (2-methyl-3 hydroxybutyrate and tiglylglycine), there is not a correlation between these laboratory features and the phenotype. In addition, patients do not develop severe metabolic crises in the neonatal period as observed in other organic acidurias, but may show persistent lactic acidosis, most likely reflecting mitochondrial dysfunction (summary by Rauschenberger et al., 2010; review by Zschocke, 2012).In a review of the disorder, Zschocke (2012) noted that although this disorder was originally thought to be an inborn error of branched-chain fatty acid and isoleucine metabolism resulting from decreased HSD17B10 dehydrogenase activity (HSD17B10 'deficiency'), subsequent studies have shown that the HSD17B10 gene product has additional functions and also acts as a component of the mitochondrial RNase P holoenzyme, which is involved in mitochondrial tRNA processing and maturation and ultimately mitochondrial protein synthesis. The multisystemic features of HSD10MD most likely result from the adverse effect of HSD17B10 mutations on mitochondrial function, rather than from the effects on the dehydrogenase activity (see PATHOGENESIS below).
HSD10 MITOCHONDRIAL DISEASE; HSD10MD Is also known as hsd17b10 deficiency|mhbd deficiency|2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency|camr|mental retardation with chorioathetosis and abnormal behavior|mental retardation, x-linked, syndromic 10|17-beta-hydroxysteroid dehydrogenase x deficiency|chor
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about HSD10 MITOCHONDRIAL DISEASE; HSD10MD
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
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Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe (Chinen et al., 2005).For a phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, or mucopolysaccharidosis III, see MPS IIIA (OMIM ).
MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B Is also known as sanfilippo syndrome b|mps iiib|n-acetyl-alpha-d-glucosaminidase deficiency|naglu deficiency
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Ataxia
SOURCES:
OMIM
MENDELIAN
More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B
Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.
CHOREOACANTHOCYTOSIS Is also known as neuroacanthocytosis|chorea-acanthocytosis|chac|levine-critchley syndrome|acanthocytosis with neurologic disorder
Related symptoms:
- Seizures
- Short stature
- Ataxia
- Nystagmus
- Muscle weakness
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about CHOREOACANTHOCYTOSIS
Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness (DIDMOAD). Additional clinical features may include renal abnormalities, ataxia, dementia or mental retardation, and diverse psychiatric illnesses. The minimal diagnostic criteria for Wolfram syndrome are optic atrophy and diabetes mellitus of juvenile onset. Hearing impairment in Wolfram syndrome is typically progressive and mainly affects the higher frequencies, but a small fraction of affected individuals have congenital deafness (summary by Rendtorff et al., 2011).Autosomal dominant mutations in the WFS1 gene have been found to cause low-frequency nonsyndromic deafness (OMIM ) as well as a Wolfram syndrome-like phenotype (OMIM ) in which affected individuals have hearing impairment with diabetes mellitus and/or optic atrophy. Genetic Heterogeneity of Wolfram SyndromeWolfram syndrome-2 (WFS2 ) is caused by mutation in the CISD2 gene (OMIM ) on chromosome 4q24.
WOLFRAM SYNDROME 1; WFS1 Is also known as diabetes insipidus and mellitus with optic atrophy and deafness|wfs|didmoad
Related symptoms:
- Intellectual disability
- Seizures
- Hearing impairment
- Ataxia
- Growth delay
SOURCES:
OMIM
MENDELIAN
More info about WOLFRAM SYNDROME 1; WFS1
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
1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.
1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
ORPHANET
OMIM
MESH
MENDELIAN
More info about 1P36 DELETION SYNDROME
Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.
CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about CARDIOFACIOCUTANEOUS SYNDROME
Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.
MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME Is also known as mrxsml|mental retardation, x-linked, syndromic, mircsof-langouet type
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Scoliosis
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME
Top 5 symptoms//phenotypes associated to Cardiomyopathy and Aggressive behavior
Symptoms // Phenotype |
% cases |
Seizures |
Very Common - Between 80% and 100% cases
|
Intellectual disability |
Very Common - Between 80% and 100% cases
|
Global developmental delay |
Common - Between 50% and 80% cases
|
Hearing impairment |
Common - Between 50% and 80% cases
|
Nystagmus |
Common - Between 50% and 80% cases
|
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Other less frequent symptoms
Patients with Cardiomyopathy and Aggressive behavior. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Behavioral abnormality
Uncommon Symptoms - Between 30% and 50% cases
Optic atrophy
Common Symptoms - More than 50% cases
Dysphagia
Uncommon Symptoms - Between 30% and 50% cases
Cerebral atrophy
Common Symptoms - More than 50% cases
Tremor
Uncommon Symptoms - Between 30% and 50% cases
Generalized hypotonia
Common Symptoms - More than 50% cases
Ataxia
Uncommon Symptoms - Between 30% and 50% cases
Growth delay
Sleep disturbance
Delayed speech and language development
Failure to thrive
Neurological speech impairment
Feeding difficulties
Dysarthria
Hepatomegaly
Sensorineural hearing impairment
Muscular hypotonia
Cognitive impairment
Prominent forehead
Synophrys
Frontal bossing
Cerebral cortical atrophy
Low-set ears
Splenomegaly
Hypertrophic cardiomyopathy
Autism
Neurodegeneration
Depressed nasal bridge
Anteverted nares
Gastroesophageal reflux
Short stature
Cataract
Scoliosis
Strabismus
Cryptorchidism
High palate
Myopia
Ventricular septal defect
Thrombocytopenia
Ventriculomegaly
Absent speech
Abnormal bleeding
Vesicoureteral reflux
Short neck
Diarrhea
Abnormality of vision
Hypertelorism
Micrognathia
High, narrow palate
Self-injurious behavior
Ptosis
Hydronephrosis
Joint stiffness
Hyperactivity
Long philtrum
Delayed skeletal maturation
Clinodactyly of the 5th finger
Dementia
Peripheral neuropathy
Narrow mouth
Depressivity
Hypertrichosis
Coarse facial features
Atrial septal defect
Hirsutism
Hydrocephalus
Abnormality of the eye
Macrocephaly
Abnormal facial shape
Drooling
Relative macrocephaly
Constipation
Leukoencephalopathy
Kyphosis
Abnormal cardiac septum morphology
Rigidity
Hypoglycemia
Encephalopathy
Dystonia
Blindness
Myopathy
Malar flattening
Hypertonia
Abnormality of the gastrointestinal tract
Progressive neurologic deterioration
Muscle weakness
Rare Symptoms - Less than 30% cases
Clinodactyly
Hypospadias
Hernia
Hypermetropia
Abnormality of the dentition
Hypogonadism
Wide nasal bridge
Intellectual disability, severe
Poor speech
Abnormality of the testis
Hepatic steatosis
Abnormality of the skeletal system
Intestinal malrotation
Hypothyroidism
Open mouth
Vomiting
Coarctation of aorta
Arnold-Chiari type I malformation
Decreased body weight
Polyphagia
Poor suck
Failure to thrive in infancy
Gastric ulcer
Abnormal heart valve morphology
Microcephaly
Abnormality of the urinary system
Submucous cleft hard palate
Hydroureter
Neoplasm
Sleep apnea
Abnormal heart morphology
Infantile spasms
Aplasia/Hypoplasia of the corpus callosum
Delayed gross motor development
Cleft palate
Abnormality of the cerebral white matter
Poor appetite
Inguinal hernia
Thick upper lip vermilion
Cleft upper lip
Patent ductus arteriosus
Abnormality of cardiovascular system morphology
Hypoplasia of the corpus callosum
Downslanted palpebral fissures
Epicanthus
Abnormality of the optic disc
Volvulus
Optic nerve coloboma
Thick vermilion border
Long face
Abnormality of the hairline
Webbed neck
Low posterior hairline
Aspiration
Widely spaced teeth
Hiatus hernia
Deep philtrum
Astigmatism
Posteriorly rotated ears
Delayed CNS myelination
Proptosis
Left ventricular noncompaction
Pyloric stenosis
Hyperhidrosis
Brachycephaly
Feeding difficulties in infancy
Abnormality of the kidney
Low-set, posteriorly rotated ears
Neonatal hypotonia
Mandibular prognathia
Upslanted palpebral fissure
Thickened helices
Conductive hearing impairment
Telecanthus
Camptodactyly
Abnormality of the pinna
Respiratory tract infection
Small for gestational age
EEG abnormality
Pulmonic stenosis
Renal cyst
Patent foramen ovale
Fatigue
Diffuse cerebral atrophy
Muscular hypotonia of the trunk
Thick eyebrow
Tetraparesis
Dysmetria
Dehydration
Tetraplegia
Delayed myelination
Spastic tetraplegia
Chorea
Recurrent upper respiratory tract infections
Coarse hair
Athetosis
Generalized amyotrophy
Epileptic spasms
Dysostosis multiplex
Wide mouth
Cardiomegaly
Gait disturbance
Pes cavus
Weight loss
Retinal degeneration
Anxiety
Abnormality of the nervous system
Pallor
Asymmetric septal hypertrophy
Abnormality of movement
Developmental regression
Myoclonus
Ovoid thoracolumbar vertebrae
Thickened ribs
Heparan sulfate excretion in urine
Psychosis
Lactic acidosis
Intrauterine growth retardation
Progressive choreoathetosis
Skeletal muscle atrophy
Self-mutilation
Cerebellar atrophy
Visual impairment
Gastrointestinal dysmotility
Acidosis
Spastic tetraparesis
Abnormality of brain morphology
Short nose
Agenesis of the anterior commissure
Horizontal eyebrow
Edema
Hypoplastic labia minora
Congestive heart failure
Pes planus
Kyphoscoliosis
Motor delay
Pectus excavatum
Solitary renal cyst
Alopecia
Muscle flaccidity
Annular pancreas
Expressive language delay
Cerebellar hypoplasia
Aortic arch aneurysm
Hypoplastic female external genitalia
Abnormality of the cerebral ventricles
Abnormality of the renal pelvis
Oppositional defiant disorder
Joint laxity
Delayed puberty
Bifid ribs
Ebstein anomaly of the tricuspid valve
Prominent nose
Abnormality of the femoral neck
Widened subarachnoid space
Abnormal cerebellum morphology
Bilobate gallbladder
Asymmetry of the ears
Abnormal external genitalia
Noncompaction cardiomyopathy
Congenital talipes calcaneovalgus
Aplasia/Hypoplasia involving bones of the feet
Cranial nerve VI palsy
Hyperplastic labia majora
Abnormal social behavior
Abnormal parietal bone morphology
Short philtrum
Talipes valgus
Hypoplasia of the zygomatic bone
Abnormality of chromosome stability
Abnormality of the anus
Slender long bone
Ocular albinism
Coronal craniosynostosis
Abnormal eyebrow morphology
Overweight
Speech apraxia
Abnormal lung lobation
Foot polydactyly
Spinal canal stenosis
Aortic root aneurysm
Congenital hypothyroidism
Anteriorly placed anus
Neuroblastoma
Telangiectasia of the skin
Missing ribs
Absent septum pellucidum
Abnormality of the immune system
Perseveration
High hypermetropia
Macule
Hypermelanotic macule
Dysphasia
Delayed cranial suture closure
Metatarsus adductus
Hemiplegia/hemiparesis
Congenital sensorineural hearing impairment
Clitoral hypertrophy
Increased head circumference
Short 5th finger
Lower limb asymmetry
Abnormality of the mandible
Abnormal renal physiology
Abnormality of female external genitalia
Lambdoidal craniosynostosis
Impaired social interactions
Abnormal corpus callosum morphology
Periventricular leukomalacia
Cavum septum pellucidum
Polyhydramnios
Intention tremor
Biliary tract abnormality
Dental crowding
Abnormal left ventricle morphology
Clonus
Nasal speech
Abnormality of the neck
Hallux valgus
Colpocephaly
Thickened calvaria
Ankylosis
Rib fusion
Delayed closure of the anterior fontanelle
Abnormality of the spleen
Mild global developmental delay
Right ventricular hypertrophy
Redundant neck skin
Slender build
Dilation of lateral ventricles
11 pairs of ribs
Hyperkeratosis
Leukemia
High forehead
Cutis laxa
Scaling skin
Sparse eyebrow
Abnormal myocardium morphology
Bilateral ptosis
Brittle hair
Redundant skin
Hyperextensible skin
Abnormality of refraction
Palmoplantar hyperkeratosis
Optic nerve hypoplasia
Abnormality of the genitourinary system
Hemangioma
Abnormal palate morphology
Oculomotor apraxia
Pleural effusion
Deep palmar crease
Narrow palate
Abnormal mitral valve morphology
Abnormality of the nail
Cerebral visual impairment
Hyperpigmentation of the skin
Lymphedema
Slow-growing hair
Subvalvular aortic stenosis
Abnormal aortic valve morphology
Hyperextensibility of the finger joints
Abnormality of the pulmonary artery
Excessive wrinkled skin
Abnormality of the optic nerve
Dystrophic fingernails
Cavernous hemangioma
Neurodevelopmental delay
Enlarged kidney
Abnormal eyelash morphology
Alopecia of scalp
Atopic dermatitis
Underdeveloped supraorbital ridges
Anal stenosis
Generalized hyperpigmentation
Curly hair
Biparietal narrowing
Multiple cafe-au-lait spots
Long palpebral fissure
Abnormality of the sternum
Neurofibromas
Aplasia/Hypoplasia of the eyebrow
Ectropion
Malnutrition
Open bite
Large for gestational age
Premature skin wrinkling
Absent eyebrow
Abnormality of the ulna
Obsessive-compulsive behavior
Heart murmur
Short attention span
Woolly hair
Chronic otitis media
Abnormal hair pattern
Cubitus valgus
Melanocytic nevus
Abnormality of hair texture
Multiple lentigines
Macrotia
Eyelid fasciculation
Inappropriate crying
Retinal dystrophy
Bruising susceptibility
Abnormality of the auditory canal
Bulbous nose
Falls
Joint hypermobility
Multiple palmar creases
Abnormality of skin pigmentation
Peripheral axonal neuropathy
Ichthyosis
Dry skin
Genu valgum
Hypotrichosis
Cutaneous T-cell lymphoma
Dolichocephaly
Multiple plantar creases
Nail dystrophy
Pruritus
Absent eyelashes
Pectus carinatum
Scarring
Sparse hair
Oral aversion
Erythema
Irritability
Umbilical hernia
Osteopenia
Palmoplantar keratoderma
Abdominal distention
Cafe-au-lait spot
Generalized ichthyosis
Sparse or absent eyelashes
Thickened skin
Increased nuchal translucency
Endocarditis
Frontal balding
Inflammatory abnormality of the skin
Anterior creases of earlobe
Abnormal tricuspid valve morphology
Patchy alopecia
Optic nerve dysplasia
Hemiparesis
Myocardial infarction
Hypoplasia of the frontal lobes
Laryngeal cleft
Full cheeks
Functional abnormality of the gastrointestinal tract
Tongue thrusting
Fine hair
Narrow forehead
Hyperkeratosis pilaris
Abnormality of the cardiovascular system
Abnormal location of ears
Progressive visual loss
Growth hormone deficiency
Dental malocclusion
Puberty and gonadal disorders
Premature birth
Morphological abnormality of the gastrointestinal tract
Nevus
Sparse eyelashes
Esophagitis
Hand polydactyly
Distal upper limb muscle weakness
Apnea
Respiratory failure
Diabetes mellitus
Dilatation
Self-mutilation of tongue and lips due to involuntary movements
Square-wave jerks
Subcortical dementia
Progressive distal muscular atrophy
Hair-pulling
Abnormality of urine homeostasis
Phonic tics
Caudate atrophy
Abnormal erythrocyte morphology
Hypergonadotropic hypogonadism
Difficulty in tongue movements
Abetalipoproteinemia
Mood changes
Abnormal urinary color
Muscle fiber atrophy
Dysgraphia
Disinhibition
Orofacial dyskinesia
Tics
Acanthocytosis
Acute hepatic failure
Protruding tongue
Abnormality of the thyroid gland
Pigmentary retinopathy
Type I diabetes mellitus
EMG abnormality
Sideroblastic anemia
Severe short stature
Pneumonia
Headache
Syndactyly
Talipes equinovarus
Fever
Hypertension
Anemia
Limited mobility of proximal interphalangeal joint
Impaired collagen-induced platelet aggregation
Diffuse leukoencephalopathy
Central sleep apnea
Abnormal glucose tolerance
Pollakisuria
Anosmia
Respiratory arrest
Central diabetes insipidus
Histiocytosis
Testicular atrophy
Stroke-like episode
Neurogenic bladder
Central apnea
Megaloblastic anemia
Dyschromatopsia
Severe sensorineural hearing impairment
Atrophy/Degeneration affecting the brainstem
Blurred vision
Diabetes insipidus
Personality changes
Vasculitis
Retrognathia
Aciduria
Difficulty walking
Flexion contracture
Persistent lactic acidosis
Abnormal mitochondrial morphology
Loss of ability to walk
Mitochondrial myopathy
Restlessness
Agitation
Abnormality of mitochondrial metabolism
Horizontal nystagmus
Hallucinations
Choreoathetosis
Metabolic acidosis
Chronic diarrhea
Gait ataxia
Visual loss
Intellectual disability, mild
Mitochondrial encephalopathy
Multifocal seizures
Limb hypertonia
Brisk reflexes
Exotropia
Amblyopia
Increased serum lactate
Rod-cone dystrophy
Hyperreflexia
Spasticity
Thick lower lip vermilion
Progressive hearing impairment
Involuntary movements
Limb muscle weakness
Neuronal loss in central nervous system
Memory impairment
Gliosis
Parkinsonism
Generalized muscle weakness
Ascites
Sensory neuropathy
Dyskinesia
Lymphadenopathy
Abnormality of eye movement
Abnormality of the foot
Nausea and vomiting
Malabsorption
Generalized tonic-clonic seizures
Growth abnormality
Attention deficit hyperactivity disorder
Mental deterioration
Elevated hepatic transaminase
Hepatosplenomegaly
Abdominal pain
Recurrent respiratory infections
Elevated serum creatine phosphokinase
Hyporeflexia
Areflexia
Dense calvaria
Protuberant abdomen
Limb ataxia
Cellular metachromasia
Glaucoma
Thin upper lip vermilion
Infantile muscular hypotonia
Midface retrusion
Polymicrogyria
Oral cleft
Dilated cardiomyopathy
Microtia
Camptodactyly of finger
Coloboma
Blepharophimosis
Abnormality of the liver
Deeply set eye
Micropenis
Agenesis of corpus callosum
Obesity
Brachydactyly
Bifid uvula
Dysplastic tricuspid valve
Hypoplastic radial head
Abnormality of the umbilicus
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
Short foot
Brain atrophy
Gastroparesis
Large fontanelles
Scrotal hypoplasia
Sacral dimple
Bicuspid aortic valve
Hypercholesterolemia
Cranial nerve paralysis
Abnormal intestine morphology
Narrow palpebral fissure
Generalized hirsutism
Pointed chin
Wide anterior fontanel
Short phalanx of finger
Stereotypy
Telangiectasia
Heterotopia
Abnormality of the skin
Pachygyria
Mitral regurgitation
Depressed nasal ridge
Ventricular hypertrophy
Interphalangeal joint contracture of finger
Hypsarrhythmia
Abnormality of the ribs
Optic disc pallor
Hypoplasia of penis
Tetralogy of Fallot
Abnormal blistering of the skin
Epileptic encephalopathy
Hip dysplasia
Absent hand
Supernumerary ribs
Proteinuria
Tapered finger
Recurrent urinary tract infections
Choanal atresia
Renal hypoplasia
Blue sclerae
High myopia
Congenital diaphragmatic hernia
Microdontia
Otitis media
Sepsis
Triangular face
Microcornea
Delayed eruption of teeth
Single transverse palmar crease
Low anterior hairline
Highly arched eyebrow
Small hand
Downturned corners of mouth
Pulmonary hypoplasia
Thin vermilion border
Vertigo
Micromelia
Toe syndactyly
Hip dislocation
Prominent nasal bridge
Craniosynostosis
Autistic behavior
Postnatal growth retardation
Long eyelashes
Increased body weight
Phocomelia
Abnormality of digit
Hand oligodactyly
Perimembranous ventricular septal defect
Short sternum
Peters anomaly
Panhypopituitarism
Recurrent hypoglycemia
Hypoplastic labia majora
Aspiration pneumonia
Ectrodactyly
Oligodactyly
Hypoplastic nipples
Dislocated radial head
Weak cry
Limited elbow extension
Elbow flexion contracture
Opisthotonus
Ectopic kidney
2-3 toe syndactyly
Short middle phalanx of finger
Cutis marmorata
Tricuspid regurgitation
Clubbing
Proximal placement of thumb
Short metatarsal
Incoordination
Hypoplasia of the radius
Torticollis
Spontaneous abortion
Deviated nasal septum
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Macrocephaly and Nephroblastoma, related diseases and genetic alterations
Hydrocephalus and Cerebellar vermis hypoplasia, related diseases and genetic alterations
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