Low-set ears, and Gait disturbance

Diseases related with Low-set ears and Gait disturbance

In the following list you will find some of the most common rare diseases related to Low-set ears and Gait disturbance that can help you solving undiagnosed cases.


Top matches:

Low match AL-RAQAD SYNDROME; ARS

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: UMLS OMIM MONDO

More info about AL-RAQAD SYNDROME; ARS

Low match INTERMEDIATE NEMALINE MYOPATHY

Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.

Related symptoms:

  • Hypertelorism
  • Motor delay
  • Flexion contracture
  • Low-set ears
  • Skeletal muscle atrophy


SOURCES: ORPHANET

More info about INTERMEDIATE NEMALINE MYOPATHY

Low match INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MONDO OMIM UMLS

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

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Other less relevant matches:

Low match KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM; KFS4

Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015).For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (OMIM ).

KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM; KFS4 Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: UMLS ORPHANET MONDO OMIM

More info about KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM; KFS4

Low match LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10

PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.

LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10 Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS OMIM ORPHANET DOID MONDO

More info about LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10

Low match MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS OMIM

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Low match ADENYLOSUCCINASE DEFICIENCY; ADSLD

Adenylosuccinase deficiency is an autosomal recessive inborn error of metabolism caused by an enzymatic defect in de novo purine synthesis (DNPS) pathway. ADSL deficiency leads to the accumulation of toxic intermediates, including succinyladenosine (S-Ado) and succinylaminoimidazole carboxamide riboside (SAICAr) in body fluids. There are 3 major phenotypic forms of the disorder that correlate with different values of the S-Ado and SAICAr concentration ratios (S-Ado/SAICAr) in the cerebrospinal fluid. These include the most severe fatal neonatal encephalopathy (S-Ado/SAICAr ratio less than 1); childhood form (type I) with severe psychomotor retardation (S-Ado/SAICAr ratio close to 1), and a milder form (type II) with psychomotor retardation or hypotonia (S-Ado/SAICAr ratio greater than 2) (summary by Baresova et al., 2012).

ADENYLOSUCCINASE DEFICIENCY; ADSLD Is also known as adenylosuccinate lyase deficiency, adsl deficiency;adsl deficiency; adenylosuccinase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: DOID UMLS MESH GARD ORPHANET SCTID OMIM MONDO

More info about ADENYLOSUCCINASE DEFICIENCY; ADSLD

Low match NEMALINE MYOPATHY 2; NEM2

An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.

Related symptoms:

  • Autosomal recessive inheritance
  • Generalized hypotonia
  • Pica
  • Scoliosis
  • Motor delay


SOURCES: DOID MONDO OMIM NCIT UMLS MESH

More info about NEMALINE MYOPATHY 2; NEM2

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20

MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20 Is also known as mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS DOID OMIM MONDO

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Pica


SOURCES: MONDO DOID UMLS OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40

Top 5 symptoms//phenotypes associated to Low-set ears and Gait disturbance

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Low-set ears and Gait disturbance. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Motor delay

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Absent speech Thin upper lip vermilion Delayed speech and language development Feeding difficulties Strabismus Seizures Inability to walk Long philtrum Upslanted palpebral fissure Short nose Anteverted nares Autosomal dominant inheritance Short stature Downslanted palpebral fissures Hyperactivity Autism Hyperlordosis Scoliosis High palate Gait ataxia Nemaline bodies Everted lower lip vermilion Skeletal muscle atrophy Congenital onset Hypertelorism Growth delay Brachydactyly

Rare Symptoms - Less than 30% cases


Cerebral cortical atrophy Malar flattening Hypoplasia of the corpus callosum Areflexia Nystagmus Hearing impairment Hyporeflexia Joint laxity Open mouth Myoclonus Bulbous nose Plagiocephaly Myopathy Muscle weakness Ptosis Tented upper lip vermilion Frequent falls Smooth philtrum Hypermetropia Macrotia Infantile onset Slender build Poor eye contact Happy demeanor Pica Long face Apnea Arachnodactyly Cerebellar atrophy Ventriculomegaly Atrial septal defect CNS hypomyelination Postnatal microcephaly Brain atrophy Triangular face Short foot Short philtrum Autistic behavior Posteriorly rotated ears Broad forehead Dysphagia Type 1 muscle fiber predominance EMG: myopathic abnormalities Decreased fetal movement Flexion contracture Generalized muscle weakness Pain Myopia Arthrogryposis multiplex congenita Difficulty walking Facial palsy Myopathic facies Polyhydramnios Attention deficit hyperactivity disorder Gastroesophageal reflux Wide mouth Recurrent upper respiratory tract infections Flat occiput Generalized seizures Distal muscle weakness Abnormality of the eye Limb muscle weakness Hypsarrhythmia Apraxia Waddling gait Neonatal hypotonia Severe global developmental delay Poor speech Spontaneous abortion Joint hypermobility Large fontanelles Respiratory insufficiency due to muscle weakness Delayed myelination Proximal muscle weakness Stereotypy Opisthotonus Cerebellar vermis atrophy Epileptic spasms Short attention span Self-mutilation Cerebral hypomyelination Inappropriate laughter Hypointensity of cerebral white matter on MRI Cleft palate Prominent metopic ridge Cryptorchidism Adducted thumb Respiratory insufficiency Hypospadias Heterogeneous Micropenis Brisk reflexes Pointed chin Spinal rigidity Mildly elevated creatine phosphokinase Heterotopia Iris coloboma Downturned corners of mouth Convex nasal ridge Generalized myoclonic seizures Hemiclonic seizures Febrile seizures Abnormal corpus callosum morphology Epileptic encephalopathy Cortical dysplasia Coloboma Absence seizures Impaired pain sensation Periventricular leukomalacia Facial hypotonia Obstructive sleep apnea Short chin Infantile spasms Abnormality of the periventricular white matter Large earlobe Thick eyebrow Periventricular white matter hyperdensities Bulbar palsy Depressed nasal bridge Multiple joint contractures Neurological speech impairment Respiratory tract infection EMG: neuropathic changes Abnormality of the rib cage Recurrent respiratory infections Neck flexor weakness Late-onset distal muscle weakness Intellectual disability, severe Epicanthus Incoordination Encephalopathy Sleep apnea Dilatation EEG abnormality Diastasis recti Sporadic Protruding ear Supernumerary nipple Developmental regression Frontal bossing Aggressive behavior Low posterior hairline Broad-based gait Obsessive-compulsive behavior Micrognathia Neoplasm Short neck Falls Webbed neck Underdeveloped nasal alae Bilateral ptosis Small hand Mild short stature Thoracolumbar scoliosis Lumbar scoliosis Fused cervical vertebrae Acetabular dysplasia Failure to thrive Spasticity Hyperreflexia Hypertonia Small nail Anxiety Babinski sign Ophthalmoplegia Narrow mouth Deeply set eye Abnormal cardiac septum morphology Flat face Unsteady gait Hypopigmentation of the skin Sandal gap Hyperplasia of the maxilla Respiratory failure High, narrow palate Constipation Premature birth Severe muscular hypotonia Abnormality of the thorax Hypokinesia Facial diplegia Multiple prenatal fractures Fever Behavioral abnormality Vomiting Abnormality of the skeletal system Progressive Brachycephaly Megalencephaly High myopia Lumbar hyperlordosis Tall stature Overgrowth Large hands Sparse eyebrow Long fingers Disproportionate tall stature Long foot Prominent nasal bridge Communicating hydrocephalus Long neck Expressive language delay Metopic synostosis Thick corpus callosum Severe expressive language delay Milia Arrhythmia Cerebral atrophy Abnormal cerebellum morphology Kyphoscoliosis Muscular hypotonia of the trunk Global brain atrophy Abnormality of the pinna Pectus carinatum Thin vermilion border Thick vermilion border Narrow forehead Progressive microcephaly Leukodystrophy Mutism Overfolded helix Long toe Pes planus Macrocephaly Hydrocephalus Kyphosis Cerebellar hypoplasia Oxycephaly Prominent forehead Mandibular prognathia High forehead Proptosis Abnormality of the renal collecting system



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Downslanted palpebral fissures and Full cheeks, related diseases and genetic alterations Ventricular septal defect and Dilated cardiomyopathy, related diseases and genetic alterations Melanoma and Hypospadias, related diseases and genetic alterations