Global developmental delay, and Hypertrichosis

Diseases related with Global developmental delay and Hypertrichosis

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

Top matches:

Hennekam lymphangiectasia-lymphedema syndrome-3 (HKKLLS3) is characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity (Brouillard et al., 2017).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape
  • Edema


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Cleft palate
  • Agenesis of corpus callosum
  • Proptosis


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 11; HPE11

X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY Is also known as mrgh

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY

Other less relevant matches:

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IAA; CDG1AA

Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare, syndromic intellectual disability syndrome characterized by cortical blindness, different types of seizures, intellectual disability with limited or absent speech, and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region.

EARLY-ONSET EPILEPTIC ENCEPHALOPATHY-CORTICAL BLINDNESS-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Visual impairment
  • Wide nasal bridge
  • Anteverted nares


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET EPILEPTIC ENCEPHALOPATHY-CORTICAL BLINDNESS-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME Is also known as intellectual disability-loss of expressive language-facial dysmorphism syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME 2; ZLS2

Autosomal recessive spinocerebellar ataxia-17 is a neurologic disorder characterized by onset of gait ataxia and cerebellar signs in early childhood. Patients also have variable intellectual disability (summary by Evers et al., 2016).

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY Is also known as scar17|spinocerebellar ataxia autosomal recessive type 17

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY

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:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7

Top 5 symptoms//phenotypes associated to Global developmental delay and Hypertrichosis

Symptoms // Phenotype % cases
Synophrys Very Common - Between 80% and 100% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Microcephaly Thick eyebrow Upslanted palpebral fissure Hearing impairment

Rare Symptoms - Less than 30% cases

Absent speech Neonatal hypotonia Hyperactivity Visual impairment Hypoplasia of the corpus callosum Abnormality of the cerebral white matter Mild microcephaly Short philtrum Coarse facial features Poor speech Thick vermilion border Long eyelashes Low anterior hairline Motor delay Brachycephaly Sensorineural hearing impairment Short neck Delayed speech and language development Intellectual disability, moderate Intrauterine growth retardation Short stature Intellectual disability, mild Hypotelorism Cleft palate Cleft lip Agenesis of corpus callosum Abnormal facial shape Growth hormone deficiency Epicanthus High palate Truncal obesity Unsteady gait Falls Aggressive behavior Acidosis Abnormal cerebellum morphology Apraxia Intention tremor Cerebellar vermis hypoplasia Clumsiness Polydactyly Postaxial polydactyly Cerebellar hypoplasia Dysmetria Abnormality of movement Gait ataxia Depressed nasal bridge Babinski sign Dystonia Cerebellar atrophy Metabolic acidosis Tremor Dysarthria Hyperreflexia Renal tubular acidosis Ataxia Prominent nasal septum Broad eyebrow Frequent falls Cryptorchidism Truncal ataxia Widow's peak Slender finger Progressive microcephaly Postnatal microcephaly Febrile seizures Round face Downturned corners of mouth Cleft upper lip Smooth philtrum Developmental regression Overweight Bruxism Obesity Intellectual disability, severe Horizontal nystagmus Growth delay Abnormality of the distal phalanx of the thumb Monotonic speech Thoracic hemivertebrae Unilateral cleft lip Nonprogressive cerebellar ataxia Abnormality of the cerebellar vermis Slurred speech Infantile muscular hypotonia Horizontal eyebrow Severe muscular hypotonia Oculomotor apraxia Hemivertebrae Bifid nasal tip EEG abnormality Anonychia Hypothyroidism Neuronal loss in central nervous system Cerebral cortical atrophy Spasticity Failure to thrive Scoliosis Panhypopituitarism Myelomeningocele Hypopituitarism Adrenal insufficiency Spina bifida occulta Spina bifida Aspiration Delayed puberty Severe short stature No social interaction Long philtrum Polysplenia Holoprosencephaly Oral cleft Proptosis Facial edema Protein-losing enteropathy Abnormal intestine morphology Lymphedema Flat face Hepatosplenomegaly Polyhydramnios Edema Strabismus Status epilepticus Anteverted nares Deep philtrum Attention deficit hyperactivity disorder Gingival overgrowth Depressed nasal ridge Small nail Underdeveloped nasal alae Macroglossia Hirsutism Joint hypermobility Kyphosis Narrow palate Pointed chin Cafe-au-lait spot Dental crowding Long face Dolichocephaly Thin upper lip vermilion Blindness Autism Downslanted palpebral fissures Low-set ears Ptosis Periorbital fullness Hypoplasia of the pons Cerebral visual impairment Hypsarrhythmia Narrow forehead Epileptic encephalopathy Broad nasal tip Prominent nasal bridge Abnormality of the pinna Telecanthus Proximal renal tubular acidosis


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