Global developmental delay, and Abnormality of eye movement

Diseases related with Global developmental delay and Abnormality of eye movement

In the following list you will find some of the most common rare diseases related to Global developmental delay and Abnormality of eye movement that can help you solving undiagnosed cases.

Top matches:

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

Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).

PYRIDOXINE-DEPENDENT EPILEPSY Is also known as antiquitin deficiency|vitamin b6-dependent seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about PYRIDOXINE-DEPENDENT EPILEPSY

Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ENDOSTEAL SCLEROSIS-CEREBELLAR HYPOPLASIA SYNDROME

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

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

Related symptoms:

  • Seizures
  • Global developmental delay
  • Strabismus
  • Delayed speech and language development
  • Hypsarrhythmia


SOURCES: OMIM MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA 6; PVNH6

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Cerebellar hypoplasia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25; SCAR25

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 27; JBTS27

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 101; MRX101

Top 5 symptoms//phenotypes associated to Global developmental delay and Abnormality of eye movement

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Strabismus Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Abnormality of eye movement. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Ataxia Generalized hypotonia

Rare Symptoms - Less than 30% cases

Abnormal facial shape Cerebellar hypoplasia Delayed speech and language development Cognitive impairment Apraxia Absent speech Tremor Poor speech Protruding ear Macrotia Hyperactivity Dystonia Myoclonus Motor delay Dysphagia Hypsarrhythmia Heterotopia Molar tooth sign on MRI Truncal ataxia Oculomotor apraxia Delayed ability to walk Dysmetria Growth delay Oligodontia Thin vermilion border Cleft palate Cryptorchidism Feeding difficulties Atrial septal defect Abnormality of the dentition Patent ductus arteriosus Autistic behavior Hypermetropia Coarctation of aorta Congenital hip dislocation Muscular hypotonia Hepatomegaly Ventriculomegaly Abnormality of metabolism/homeostasis Cerebral cortical atrophy EEG abnormality Neurological speech impairment Abnormality of movement Status epilepticus Long face


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