Microcephaly, and High palate

Diseases related with Microcephaly and High palate

In the following list you will find some of the most common rare diseases related to Microcephaly and High palate that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61; EIEE61

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 58; MRD58

Glycosylphosphatidylinositol biosynthesis defect-17 is an autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Patients may present with early-onset febrile or afebrile seizures that tend to be mild or controllable. Other features may include learning disabilities, autism, behavioral abnormalities, hypotonia, and motor deficits. The phenotype is relatively mild compared to that of other GPIBDs (summary by Nguyen et al., 2018).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17; GPIBD17

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5; EIEE5

MENTAL RETARDATION, X-LINKED 30; MRX30 Is also known as mental retardation, x-linked 47|mrx47

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 30; MRX30

Neu-Laxova syndrome-2 is a rare autosomal recessive disorder characterized by a recognizable pattern of severe congenital malformations leading to prenatal or early postnatal lethality. Affected patients have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the hands and feet. Some patients have malformations of the central nervous system, such as abnormal gyration (summary by Acuna-Hidalgo et al., 2014).For a discussion of genetic heterogeneity of Neu-Laxova syndrome, see NLS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME 2; NLS2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41

Methylmalonic acidemia and homocysteinemia, cblX type, is an X-linked recessive metabolic disorder characterized by severely delayed psychomotor development apparent in infancy. It is associated with failure to thrive, mental retardation, and intractable epilepsy. Additional features may include microcephaly and choreoathetosis (summary by Yu et al., 2013).

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLX Is also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblx|mrx3|mental retardation, x-linked 3|methylmalonic aciduria with homocystinuria, type cblx

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLX

BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by Kalay et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 5; SCKL5

Top 5 symptoms//phenotypes associated to Microcephaly and High palate

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Microcephaly and High palate. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Aggressive behavior Short stature Hypsarrhythmia

Rare Symptoms - Less than 30% cases

Intellectual disability, severe Short chin Sloping forehead Cleft palate Infantile spasms Febrile seizures Brachycephaly Anxiety Autism Clinodactyly of the 5th finger Abnormality of the pinna Incoordination Micrognathia Growth delay Thick vermilion border Hypertelorism Epileptic encephalopathy Facial asymmetry Encephalopathy Intellectual disability, profound Open mouth Delayed speech and language development Motor delay Abnormal cortical gyration Macrotia Cerebral atrophy Methylmalonic aciduria Choreoathetosis Athetosis Homocystinuria Methylmalonic acidemia Increased body weight Nasal speech Enuresis nocturna Acidosis Chorea Tapered finger Hypermetropia Cone-shaped epiphysis Epileptic spasms Behavioral abnormality Failure to thrive Anemia Enuresis Oval face Hearing impairment Flat occiput Depressed nasal bridge Delayed skeletal maturation Selective tooth agenesis 11 pairs of ribs Proportionate short stature Clitoral hypertrophy Oligodontia Convex nasal ridge Hypodontia Prominent nasal bridge Blepharophimosis Pes planus Retrognathia Severe short stature Downslanted palpebral fissures Epicanthus Cryptorchidism Strabismus Bilateral conductive hearing impairment Increased number of teeth Brittle hair Long eyelashes Bifid uvula Single transverse palmar crease Highly arched eyebrow Thick eyebrow Autistic behavior Conductive hearing impairment Intellectual disability, mild Spastic paraparesis Intrauterine growth retardation Paraparesis Generalized myoclonic seizures Progressive microcephaly Spastic tetraplegia Brain atrophy Tetraplegia Coloboma Cerebellar atrophy Hypoplasia of the corpus callosum Hyperreflexia Dysplastic corpus callosum Finger clinodactyly Hypertriglyceridemia Hirsutism Atrophy/Degeneration affecting the brainstem Clinodactyly Delayed ability to walk Plagiocephaly Dental crowding Poor speech Neurological speech impairment Wide mouth Wide nasal bridge Narrow forehead Generalized-onset seizure Spasticity CNS hypomyelination Small anterior fontanelle Short metacarpal Scoliosis Small hand Babinski sign Brachydactyly Dysarthria Rocker bottom foot Depressed nasal ridge Decreased fetal movement Ichthyosis Proptosis Edema Short neck Long ear Anteverted nares Short attention span Restlessness Agitation Schizophrenia Delayed gross motor development Drooling Psychosis Flat face Thin upper lip vermilion Hyperactivity Upslanted palpebral fissure Short nose Large beaked nose


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