Motor delay, and Downturned corners of mouth

Diseases related with Motor delay and Downturned corners of mouth

In the following list you will find some of the most common rare diseases related to Motor delay and Downturned corners of mouth that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66

Other less relevant matches:

Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3|tndm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSIENT NEONATAL DIABETES MELLITUS

Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient (see {601410}) and resolves at a median age of 3 months, whereas the rest have a permanent insulin-dependent form of diabetes (PNDM). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes (see {125853}) appears later in life (Arthur et al., 1997). PNDM is distinct from childhood-onset autoimmune diabetes mellitus type I (IDDM ).Massa et al. (2005) noted that the diagnostic time limit for PNDM has changed over the years, ranging from onset within 30 days of birth to 3 months of age. However, as patients with the clinical phenotype caused by mutation in the KCNJ11 gene have been identified with onset up to 6 months of age, Massa et al. (2005) suggested that the term 'permanent diabetes mellitus of infancy' (PDMI) replace PNDM as a more accurate description, and include those who present up to 6 months of age. The authors suggested that the new acronym be linked to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion with patients with early-onset, autoimmune type I diabetes.Colombo et al. (2008) proposed that, because individuals with INS gene mutations may present with diabetes well beyond 6 months of age and cannot be distinguished from patients with type 1 diabetes except for the absence of type 1 diabetes autoantibodies, the term PNDM should be replaced with 'monogenic diabetes of infancy (MDI),' a broad definition including any form of diabetes, permanent or transient, with onset during the first years of life and caused by a single gene defect.

DIABETES MELLITUS, PERMANENT NEONATAL; PNDM Is also known as diabetes mellitus, permanent, of infancy|pdmi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by Sleven et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS

Top 5 symptoms//phenotypes associated to Motor delay and Downturned corners of mouth

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Motor delay and Downturned corners of mouth. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Growth delay Downslanted palpebral fissures Short stature Intrauterine growth retardation Cryptorchidism Failure to thrive Delayed ability to walk Low-set ears Long philtrum Bilateral ptosis Abnormal facial shape Epicanthus Strabismus Prominent metopic ridge Anteverted nares Ptosis Thin upper lip vermilion Generalized tonic-clonic seizures Generalized myoclonic seizures Muscular hypotonia of the trunk Apraxia Dehydration Autoimmune antibody positivity Deeply set eye Hyperglycemia Hearing impairment Arthrogryposis multiplex congenita Feeding difficulties Long face Intellectual disability, severe Short philtrum Hypoplasia of the corpus callosum Synophrys Round face Wide nasal bridge

Rare Symptoms - Less than 30% cases

Hyperactivity Tented upper lip vermilion Transient neonatal diabetes mellitus Elevated hemoglobin A1c Micrognathia Myopathic facies Cleft palate Ataxia Short nose High forehead Narrow mouth Hypovolemia Diabetes mellitus Muscular hypotonia Smooth philtrum Clinodactyly Abnormal heart morphology Weight loss Horizontal eyebrow Coma Abnormality of the cerebral white matter Contractures of the joints of the lower limbs Neurodevelopmental delay Glycosuria Neonatal hypotonia Renal tubular dysfunction Ketonuria Brachycephaly Abnormality of the upper urinary tract Posteriorly rotated ears Agenesis of corpus callosum Prominent forehead Hypsarrhythmia Blepharophimosis Bruxism Gastroesophageal reflux Muscle weakness Flexion contracture Wide mouth Hypermetropia Astigmatism Telecanthus Epileptic encephalopathy Short palpebral fissure Pancreatic hypoplasia Small for gestational age Absent speech Abnormality of the skeletal system Abnormality of the pinna Neurological speech impairment Talipes High palate Unilateral cryptorchidism Midface retrusion Abnormality of the foot Scoliosis Kyphosis Kyphoscoliosis Cognitive impairment Open mouth Overfolding of the superior helices Facial palsy Fever Generalized muscle weakness Narrow forehead Skeletal muscle atrophy Pectus excavatum Ventriculomegaly Respiratory insufficiency Conductive hearing impairment Hyporeflexia Myopathy Proximal muscle weakness Oval face Areflexia Prominent nasal bridge Congenital contracture Thickened ears Stereotypy Abnormality of the immune system Ketoacidosis Aspiration pneumonia Mild global developmental delay Decreased fetal movement Limb joint contracture Delayed myelination Beta-cell dysfunction Vesicoureteral reflux Short chin Clinodactyly of the 4th finger Pain Broad nasal tip Dysarthria Dysphagia Cerebellar atrophy Cerebellar hypoplasia Triangular face Dysmetria Micropenis Abnormality of the ear Abnormality of the genitourinary system Pain insensitivity Pneumonia Inverted nipples Gowers sign Overfolded helix Ankle contracture Malignant hyperthermia Restrictive deficit on pulmonary function testing Multiple skeletal anomalies Peripheral neuropathy Vomiting Abnormality of the nervous system Poor head control Confusion Progressive neurologic deterioration Aspiration Vertebral fusion Type I diabetes mellitus Failure to thrive in infancy Polydipsia Radial deviation of finger Polyuria Deep philtrum Abnormal myelination Insulin resistance Language impairment Status epilepticus Hyperreflexia Myopia Behavioral abnormality Autism Autistic behavior Abnormal cardiac septum morphology Neutropenia Broad-based gait Anemia Cerebral visual impairment Obsessive-compulsive behavior Enlarged cisterna magna Hypospadias Encephalopathy Upslanted palpebral fissure Pes planus Visual impairment Nystagmus Thick vermilion border Postnatal microcephaly Short neck Obesity Cleft lip Developmental regression Cleft upper lip Febrile seizures Hypotelorism Progressive microcephaly Abnormality of the cerebellar vermis Low anterior hairline Severe muscular hypotonia Truncal obesity Slender finger Overweight Mild microcephaly Unilateral cleft lip Microtia Small hand Flat face Long nose Wide nose Highly arched eyebrow Bifid uvula Wide intermamillary distance Absence seizures Microretrognathia Widely spaced teeth Partial agenesis of the corpus callosum Protruding ear Prominent nasal tip Long upper lip Talipes equinovarus Edema Camptodactyly Broad forehead Joint hypermobility Thin vermilion border Dystonia Everted lower lip vermilion Tented philtrum Short foot Tapered finger Long eyelashes Sandal gap Plagiocephaly High anterior hairline Short attention span Retinopathy Depressed nasal bridge Peripheral axonal neuropathy Microalbuminuria Neonatal insulin-dependent diabetes mellitus Reduced pancreatic beta cells Steatorrhea Maternal diabetes Abnormality of the pancreatic islet cells Spasticity Broad chin


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