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
More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3
Medium match HOLOPROSENCEPHALY 11; HPE11
- Global developmental delay
- Microcephaly
- Cleft palate
- Agenesis of corpus callosum
- Proptosis
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 DEFICIENCYOther less relevant matches:
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Microcephaly
More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IAA; CDG1AA
Medium match EARLY-ONSET EPILEPTIC ENCEPHALOPATHY-CORTICAL BLINDNESS-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME
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 SYNDROMEINTELLECTUAL 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 SYNDROMEMedium match ZIMMERMANN-LABAND SYNDROME 2; ZLS2
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
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 DEFICIENCYMedium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13
- Seizures
- Global developmental delay
- Hearing impairment
- Sensorineural hearing impairment
- Cleft palate
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 impairmentRare 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 acidosisIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Polydactyly, related diseases and genetic alterations Tremor and Asthma, related diseases and genetic alterations Edema and Insulin resistance, related diseases and genetic alterations Cleft palate and Short palm, related diseases and genetic alterations Ataxia and Coloboma, related diseases and genetic alterations Generalized hypotonia and Chorea, related diseases and genetic alterations