Intellectual disability, and Thick lower lip vermilion

Diseases related with Intellectual disability and Thick lower lip vermilion

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

Top matches:

X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 19; MRX19

Nonsyndromic mental retardation.

MENTAL RETARDATION, X-LINKED 9; MRX9 Is also known as mental retardation, x-linked 44|mrx44

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 9; MRX9

Autosomal recessive infantile hypercalcemia is a rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.

AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA Is also known as familial infantile hypercalcemia with suppressed intact parathyroid hormone|hypercalcemia, idiopathic, of infancy

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA

Other less relevant matches:

X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE Is also known as shashi x-linked mental retardation syndrome|syndromic x-linked intellectual disability type 11|smrxs|mental retardation, x-linked, shashi type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Delayed speech and language development


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency is a rare, hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY Is also known as scar23|spinocerebellar ataxia autosomal recessive type 23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Pain
  • Gait disturbance
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24

Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary by Kahrizi et al., 2009).See also congenital disorder of glycosylation type Iq (CDG1Q ), an allelic disorder with overlapping features.

KAHRIZI SYNDROME; KHRZ Is also known as mental retardation, cataract, coloboma, and kyphosis, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cataract
  • Flexion contracture
  • Motor delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about KAHRIZI SYNDROME; KHRZ

ARX-related mental retardation is a form of nonsyndromic X-linked mental retardation. It is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2 ) to Proud syndrome (OMIM ) to infantile spasms without brain malformations (EIEE1 ) to Partington syndrome (OMIM ) (Kato et al., 2004; Wallerstein et al., 2008).

MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED; MRXARX Is also known as mrx32|mrx38|mental retardation, x-linked 76|mental retardation, x-linked 38|mental retardation, x-linked 29|mrx54|mrx76|mental retardation, x-linked 32|mrx43|mrx29|mental retardation, x-linked 54|mental retardation, x-linked 33|mrx33|mental retardation, x

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Cognitive impairment


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED; MRXARX

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

Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology (Hofman, 1984). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by Yu et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2

Top 5 symptoms//phenotypes associated to Intellectual disability and Thick lower lip vermilion

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Coarse facial features Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
Macrotia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Thick lower lip vermilion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Periorbital fullness Global developmental delay Bulbous nose Intellectual disability, moderate Intellectual disability, mild Abnormal facial shape Aggressive behavior

Rare Symptoms - Less than 30% cases

Palpebral edema Wide nasal bridge Long palpebral fissure Prominent supraorbital ridges Everted lower lip vermilion Intellectual disability, severe Blepharophimosis Lissencephaly Obesity Hearing impairment Micrognathia Sloping forehead Large hands Cognitive impairment Hypertelorism Motor delay Delayed gross motor development Pes planus Macroglossia Tapered finger Highly arched eyebrow Thick eyebrow Joint hyperflexibility Synophrys Infantile spasms Urinary incontinence Dementia Thickened skin Babinski sign Macrocephaly Capillary hemangioma Thoracic kyphosis Hemangioma Intellectual disability, progressive Knee flexion contracture Elbow flexion contracture Thick vermilion border Iris coloboma Coloboma Kyphosis Scoliosis Abnormality of the metacarpal bones Gingival overgrowth Hyperactivity Abnormal corpus callosum morphology Maternal diabetes Cortical gyral simplification Impulsivity Spastic tetraparesis Pachygyria Heterotopia Hemiparesis Tetraparesis Decreased fetal movement Polymicrogyria Cerebellar hypoplasia Prominent forehead Absent speech Long philtrum Hypoplasia of the corpus callosum Intrauterine growth retardation Hyperreflexia Growth delay Microcephaly Abnormal lip morphology Thick nasal alae Abnormality of the tongue Craniofacial hyperostosis Long nose Abnormality of the skeletal system Flexion contracture Autistic behavior Nephrocalcinosis Broad nasal tip Dental crowding Long foot Sensorineural hearing impairment Depressed nasal bridge Elfin facies Medullary nephrocalcinosis Infantile hypercalcemia Polyuria Hypercalcemia Hypercalciuria Aortic valve stenosis Bilateral sensorineural hearing impairment Nephrolithiasis Dehydration Pulmonic stenosis Lethargy Abnormality of the eye Weight loss Vomiting Muscular hypotonia Failure to thrive Abnormality of the distal phalanx of finger Autism Specific learning disability Narrow palpebral fissure Cataract Pain Horizontal eyebrow Mood swings Fair hair Poor eye contact Tented upper lip vermilion Sacral dimple Toe syndactyly Mandibular prognathia Recurrent infections Syndactyly Gait disturbance Short stature Small for gestational age Hypotelorism Long face Short philtrum Deeply set eye Narrow mouth Gait ataxia Brachycephaly Downslanted palpebral fissures High palate Ataxia Macroorchidism Kyphoscoliosis Schizencephaly


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