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.


Top matches:

Medium match NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS


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

Medium match HSD10 MITOCHONDRIAL DISEASE; HSD10MD


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

Medium match MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D


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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Other less relevant matches:

Medium match MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B


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

Medium match CHOREOACANTHOCYTOSIS


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

Medium match WOLFRAM SYNDROME 1; WFS1


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

Medium 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

Medium match 1P36 DELETION SYNDROME


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

Medium match CARDIOFACIOCUTANEOUS 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

Medium match MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION 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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