Ataxia, and Everted lower lip vermilion

Diseases related with Ataxia and Everted lower lip vermilion

In the following list you will find some of the most common rare diseases related to Ataxia and Everted lower lip vermilion that can help you solving undiagnosed cases.


Top matches:

Medium match SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME


SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME Is also known as birk-flusser syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME

Medium match NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL


NEDMIAL is a neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by Lessel et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL

Medium match CHANARIN-DORFMAN SYNDROME; CDS


CHANARIN-DORFMAN SYNDROME; CDS Is also known as neutral lipid storage disease with ichthyosis|dcs|nlsdi|triglyceride storage disease with impaired long-chain fatty acid oxidation|dorfman-chanarin syndrome|chanarin-dorfman disease|ichthyosiform erythroderma with leukocyte vacuolation|ichthyotic neutral

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHANARIN-DORFMAN SYNDROME; CDS

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Other less relevant matches:

Medium match MUCOLIPIDOSIS TYPE IV


Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE IV

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40

Medium match 2Q23.1 MICRODELETION SYNDROME


The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

Medium match 3Q29 MICRODELETION SYNDROME


3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

Medium match MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH VARIABLE CRANIOFACIAL ANOMALIES


Mitochondrial DNA depletion syndrome-13 is an autosomal recessive disorder characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content (summary by Bonnen et al., 2013 and Gai et al., 2013).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH VARIABLE CRANIOFACIAL ANOMALIES Is also known as mtdna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH VARIABLE CRANIOFACIAL ANOMALIES

Medium match VERVERI-BRADY SYNDROME; VERBRAS


Ververi-Brady syndrome is a disorder characterized by mild developmental delay, mild intellectual disability and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by Ververi et al., 2018).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about VERVERI-BRADY SYNDROME; VERBRAS

Top 5 symptoms//phenotypes associated to Ataxia and Everted lower lip vermilion

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Everted lower lip vermilion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Absent speech Generalized hypotonia Growth delay Abnormal facial shape Delayed speech and language development Gastroesophageal reflux Gait ataxia Epicanthus High palate Stereotypy Seizures Aggressive behavior Feeding difficulties Delayed myelination Behavioral abnormality Nystagmus Cataract Ptosis Autism Protruding ear Thin upper lip vermilion Prominent nose Thick eyebrow

Rare Symptoms - Less than 30% cases


Encephalopathy Upslanted palpebral fissure Cupped ear Pain Small for gestational age Narrow face Wide mouth Short foot EEG abnormality Coarse facial features Gait disturbance Muscular hypotonia Sandal gap Microtia Facial asymmetry Hypermetropia Autistic behavior Plagiocephaly Frontal bossing Clinodactyly Downslanted palpebral fissures Micrognathia Clinodactyly of the 5th finger Tented upper lip vermilion Brachycephaly Short philtrum Hyperactivity Open mouth Failure to thrive Brain atrophy Long face Short nose Hypospadias Dental crowding Joint hypermobility Short stature Posteriorly rotated ears Tapered finger Synophrys Poor speech Cerebral atrophy Cerebellar hypoplasia Dystonia Cerebellar atrophy Intellectual disability, severe Ventriculomegaly Hearing impairment Highly arched eyebrow Low anterior hairline Macrocephaly Intrauterine growth retardation Tremor Hypertension Neutropenia Hypertelorism Abnormality of the dentition Microphthalmia Cognitive impairment Hernia Persistent lactic acidosis Depressivity Pectus excavatum Patent ductus arteriosus Inguinal hernia Intellectual disability, mild Cleft palate Elevated serum creatine phosphokinase Short attention span Short chin Absence seizures Mildly elevated creatine phosphokinase Widely spaced teeth Infantile muscular hypotonia Focal impaired awareness seizure Language impairment Frequent falls Self-injurious behavior Polyphagia Macrodontia Abnormality of the nervous system Intention tremor Hemifacial hypoplasia Broad nasal tip Paroxysmal bursts of laughter Abnormality of lower lip Wide nose Falls Unsteady gait Anxiety Smooth philtrum Macrotia Respiratory tract infection Joint laxity Dysphagia Leukodystrophy Choreoathetosis Finger clinodactyly Shallow orbits Broad face Subvalvular aortic stenosis Six lumbar vertebrae Scoliosis Skeletal muscle atrophy Hypoplasia of the corpus callosum Nasal speech Cardiomyopathy Recurrent infections Arrhythmia Acidosis Elevated hepatic transaminase Increased serum lactate Hypertrophic cardiomyopathy Abnormality of the pinna Severe global developmental delay Congenital cataract Truncal ataxia Hyperammonemia Cleft lip Renal tubular acidosis Mitochondrial respiratory chain defects Intellectual disability, moderate Hyperalaninemia Lactic acidosis Gastrointestinal dysmotility Attention deficit hyperactivity disorder Pectus carinatum Concave nasal ridge Prominent nasal bridge Pulmonic stenosis Horseshoe kidney Joint hyperflexibility Oral cleft Abnormality of skin pigmentation Single transverse palmar crease Psychosis Pulmonary arterial hypertension Anorexia Aortic valve stenosis Aspiration Global brain atrophy Bipolar affective disorder Fever Generalized hirsutism Hepatic steatosis Sensorineural hearing impairment Muscle weakness Hepatomegaly Myopathy Areflexia Alopecia Hepatosplenomegaly Muscular dystrophy Ichthyosis Aortic regurgitation Bruxism Scaling skin Ectropion Erythroderma Congenital ichthyosiform erythroderma Abnormality of blood and blood-forming tissues Subcapsular cataract Congenital nonbullous ichthyosiform erythroderma Decreased plasma carnitine Generalized ichthyosis Hyperreflexia Low frustration tolerance Delayed ability to walk Retinopathy Thick lower lip vermilion Anteverted nares Hypertonia Agenesis of corpus callosum Low-set, posteriorly rotated ears Sparse hair Hirsutism Abnormal cerebellum morphology Narrow forehead Cerebellar vermis hypoplasia Long eyelashes Involuntary movements Aplasia/Hypoplasia of the corpus callosum Partial agenesis of the corpus callosum Palpebral edema Limb hypertonia Congenital microcephaly Nonprogressive cerebellar ataxia Upper eyelid edema Pes planus Inability to walk Chorea Photophobia Corneal opacity Hypoplasia of penis Broad forehead Visual impairment Motor delay Myopia Vomiting Malar flattening Constipation Retrognathia Feeding difficulties in infancy Postnatal growth retardation Astigmatism Abnormality of the renal collecting system Bulbous nose Short palm Downturned corners of mouth Small hand Sleep disturbance Esotropia Focal-onset seizure Febrile seizures Hip dysplasia Epileptic encephalopathy Cryptorchidism Tented philtrum Palmoplantar keratoderma Recurrent respiratory infections Microdontia Abnormality of retinal pigmentation Abnormal electroretinogram Biparietal narrowing Genu recurvatum Developmental stagnation Aplasia/Hypoplasia of the abdominal wall musculature Abnormal nasal morphology Abnormality of mucopolysaccharide metabolism Abnormality of ganglioside metabolism Apnea Diastasis recti Neurological speech impairment Pointed chin Sleep apnea Recurrent upper respiratory tract infections Incoordination Supernumerary nipple Cortical dysplasia Impaired pain sensation Obstructive sleep apnea Facial hypotonia Impaired social interactions



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Hyperinsulinemia, related diseases and genetic alterations Congestive heart failure and Webbed neck, related diseases and genetic alterations Immunodeficiency and Stroke, related diseases and genetic alterations Failure to thrive and Low-set, posteriorly rotated ears, related diseases and genetic alterations Muscular hypotonia and Lymphedema, related diseases and genetic alterations

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