Intellectual disability, and Hypertrichosis

Diseases related with Intellectual disability and Hypertrichosis

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

Top matches:

MENTAL RETARDATION, X-LINKED 97; MRX97 Is also known as mental retardation, x-linked 65|mrx65|mrxz

Related symptoms:

  • Intellectual disability
  • Delayed speech and language development
  • Motor delay
  • Prominent forehead
  • Macrotia


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 97; MRX97

Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

DEAFNESS-INFERTILITY SYNDROME Is also known as deafness, sensorineural, and male infertility|chromosome 15q15.3 deletion syndrome|dis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DEAFNESS-INFERTILITY SYNDROME

Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (summary by Woods et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4

Other less relevant matches:

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

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

X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE Is also known as siderius-hamel syndrome|mental retardation, x-linked, syndromic, siderius type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Cleft palate
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms).

ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as afa syndrome|thick lips and oral mucosa

Related symptoms:

  • Seizures
  • Hypertelorism
  • Micrognathia
  • Intellectual disability, mild
  • Coarse facial features


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALOID FACIAL APPEARANCE SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability and Hypertrichosis

Symptoms // Phenotype % cases
Synophrys Very Common - Between 80% and 100% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Intellectual disability, mild Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Hypertrichosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability, moderate Short stature Thick eyebrow Seizures Generalized hypotonia Coarse facial features Wide nasal bridge Sloping forehead Microcephaly High palate Motor delay Long face

Rare Symptoms - Less than 30% cases

Autism Slender finger Large hands Short neck Upslanted palpebral fissure Cleft upper lip Macroglossia Cleft lip Cerebellar vermis hypoplasia Hearing impairment Micrognathia Sensorineural hearing impairment Brachycephaly Low-set ears Gingival overgrowth Mild microcephaly Thoracic kyphosis Oculomotor apraxia Preaxial hand polydactyly Infantile muscular hypotonia Preaxial polydactyly Prominent supraorbital ridges Nasal speech Slurred speech Low posterior hairline Decreased testicular size Nonprogressive cerebellar ataxia Intention tremor Broad nasal tip Thoracic hemivertebrae Oral cleft Clumsiness Frequent falls Horizontal nystagmus Monotonic speech Autistic behavior Abnormality of the distal phalanx of the thumb Hemivertebrae Scoliosis Truncal ataxia Cleft palate Polydactyly Atrial septal defect Cryptorchidism Pes planus Developmental regression Bilateral cleft lip Highly arched eyebrow Unilateral cleft lip Abnormality of the cerebellar vermis Horizontal eyebrow Blepharophimosis Joint hyperflexibility Bulbous nose Everted lower lip vermilion Tapered finger Overweight Thick lower lip vermilion Thickened skin Abnormality of the metacarpal bones Long nose Palpebral edema Craniofacial hyperostosis Abnormality of the tongue Thick nasal alae Bruxism Truncal obesity Bilateral cleft lip and palate Short philtrum Long toe Growth delay Hypoplasia of the corpus callosum Intellectual disability, severe Obesity Hyperactivity Neonatal hypotonia Abnormal cerebellum morphology Abnormality of the cerebral white matter Severe muscular hypotonia Smooth philtrum Downturned corners of mouth Round face Febrile seizures Hypotelorism Postnatal microcephaly Progressive microcephaly Low anterior hairline Apraxia Prominent nasal septum Falls Severe short stature Aggressive behavior Impulsivity Cortical gyral simplification Bimanual synkinesia Epicanthus Long philtrum Hypothyroidism Prominent eyelashes Delayed puberty Growth hormone deficiency Aspiration Spina bifida Spina bifida occulta Adrenal insufficiency Hypopituitarism Ventriculomegaly Moderate hearing impairment Panhypopituitarism Infertility Prominent forehead Macrotia Poor speech Broad face Anemia Brachydactyly Prominent nasal bridge Bilateral sensorineural hearing impairment Reduced sperm motility Narrow palpebral fissure Azoospermia Progressive sensorineural hearing impairment Male infertility Anemia of inadequate production Congenital hypoplastic anemia Abnormal spermatogenesis Myelomeningocele Ptosis Unsteady gait Tremor Anonychia Widow's peak Bifid nasal tip Broad eyebrow Ataxia Hyperreflexia Dysarthria Cerebellar atrophy Long eyelashes Dystonia Babinski sign Cerebellar hypoplasia Agenesis of corpus callosum Gait ataxia Abnormality of movement Dysmetria Deep philtrum Downslanted palpebral fissures Pointed chin Absent speech Thin upper lip vermilion EEG abnormality Attention deficit hyperactivity disorder Dolichocephaly Dental crowding Cafe-au-lait spot Narrow palate Depressed nasal ridge Abnormal facial shape Kyphosis Joint hypermobility Hirsutism Thick vermilion border Underdeveloped nasal alae Small nail Abnormal lip morphology


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