Microcephaly, and Behavioral abnormality

Diseases related with Microcephaly and Behavioral abnormality

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

Top matches:

The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.

5Q35 MICRODUPLICATION SYNDROME Is also known as dup(5)(q35)|trisomy 5q35

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about 5Q35 MICRODUPLICATION SYNDROME

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 6; SCKL6

Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.

DIHYDROPTERIDINE REDUCTASE DEFICIENCY Is also known as hyperphenylalaninemia due to dihydropteridine reductase deficiency|pku type 2|phenylketonuria type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIHYDROPTERIDINE REDUCTASE DEFICIENCY

Foetal methylmercury syndrome is characterised by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.

FETAL METHYLMERCURY SYNDROME Is also known as methyl mercury antenatal infection|minamata disease

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Muscular hypotonia
  • Visual impairment


SOURCES: MESH ORPHANET MENDELIAN

More info about FETAL METHYLMERCURY SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Intellectual disability, severe


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE; MCPH14

Hypomagnesemia, seizures, and mental retardation is a disorder characterized by onset of seizures associated with low serum magnesium in the first year of life. Affected individuals show variable degrees of delayed psychomotor development (summary by Arjona et al., 2014).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Absent speech


SOURCES: OMIM MENDELIAN

More info about HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION; HOMGSMR

MENTAL RETARDATION, X-LINKED 63; MRX63 Is also known as mrx68|mental retardation, x-linked 68

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hyperreflexia
  • Anxiety


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 63; MRX63

Top 5 symptoms//phenotypes associated to Microcephaly and Behavioral abnormality

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Aggressive behavior Rare - less than 30% cases

Other less frequent symptoms

Patients with Microcephaly and Behavioral abnormality. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Intellectual disability, moderate Anxiety Dysphagia Hearing impairment Muscular hypotonia Visual impairment Intellectual disability, severe Poor speech Cerebellar hypoplasia Hyperreflexia Cerebellar vermis hypoplasia Motor delay Generalized myoclonic seizures Hypomagnesemia Absent speech Thin vermilion border Delayed speech and language development Strabismus Growth delay Myopia Delayed skeletal maturation Specific learning disability Generalized hypotonia Cleft palate Coarctation of aorta Cryptorchidism Feeding difficulties Atrial septal defect Abnormality of the dentition Patent ductus arteriosus Autistic behavior Hypermetropia Language impairment


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