Intellectual disability, severe, and Photophobia

Diseases related with Intellectual disability, severe and Photophobia

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

Top matches:

Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.

ALOPECIA-INTELLECTUAL DISABILITY SYNDROME Is also known as perniola-krajewska-carnevale syndrome|amr syndrome|apmr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALOPECIA-INTELLECTUAL DISABILITY SYNDROME

Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

SYNDROMIC MICROPHTHALMIA TYPE 5 Is also known as mcops5|syndromic microphthalmia/anophthalmia due to otx2 mutation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MICROPHTHALMIA TYPE 5

Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.

LEBER CONGENITAL AMAUROSIS Is also known as crb|amaurosis congenita of leber i|lca|amaurosis congenita of leber|retinal blindness, congenital

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS

Other less relevant matches:

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.

MICROPHTHALMIA-RETINITIS PIGMENTOSA-FOVEOSCHISIS-OPTIC DISC DRUSEN SYNDROME Is also known as nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome|microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Cataract
  • Blindness
  • Microphthalmia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA-RETINITIS PIGMENTOSA-FOVEOSCHISIS-OPTIC DISC DRUSEN SYNDROME

Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009).For a general description and a discussion of genetic heterogeneity of LCA, see {204000}.

LEBER CONGENITAL AMAUROSIS 2; LCA2 Is also known as amaurosis congenita of leber ii

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Cataract
  • Visual impairment
  • Optic atrophy


SOURCES: OMIM MESH MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS 2; LCA2

BBS6 is an autosomal recessive disorder with cardinal features of postaxial polydactyly, retinitis pigmentosa, kidney defects, obesity, and mental retardation (Slavotinek et al., 2000). Zaghloul and Katsanis (2009) estimated that mutations in the MKKS gene account for 5.8% of the total BBS mutational load.For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Intellectual disability, mild
  • Syndactyly
  • Obesity
  • Hypospadias


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 6; BBS6

X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.

X-LINKED RECESSIVE OCULAR ALBINISM Is also known as ocular albinism type 1|ocular albinism, nettleship-falls type|nettleship-falls type ocular albinism|oa1|xloa

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Strabismus
  • Visual impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about X-LINKED RECESSIVE OCULAR ALBINISM

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Photophobia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Nystagmus Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Hypermetropia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Photophobia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Blindness Myopia Global developmental delay Rod-cone dystrophy Hearing impairment Intellectual disability, mild Muscular hypotonia Growth delay Cataract Visual impairment Dilatation Pigmentary retinopathy Retinal dystrophy Astigmatism Reduced visual acuity Retinal degeneration Cone/cone-rod dystrophy High hypermetropia Microphthalmia Pendular nystagmus Nyctalopia Cryptorchidism Hypoplasia of the fovea Hypopigmentation of the skin Scoliosis Ichthyosis

Rare Symptoms - Less than 30% cases

Feeding difficulties Optic atrophy Postaxial polydactyly Abnormality of the kidney Albinism Thin upper lip vermilion Oligohydramnios Specific learning disability Talipes Visual loss Diabetes mellitus Obesity Syndactyly Congenital cataract External genital hypoplasia Failure to thrive Decreased light- and dark-adapted electroretinogram amplitude Abnormality of skin pigmentation Eye poking Strabismus Ventriculomegaly Kyphosis Ocular albinism Recurrent respiratory infections Narrow forehead Congenital blindness Keratoconus Polydactyly Iris hypopigmentation Respiratory tract infection Cerebellar vermis hypoplasia Fundus atrophy Intrauterine growth retardation Falls Delayed skeletal maturation Alopecia universalis Hyperhidrosis Generalized hypotonia Micrognathia Cleft palate Talipes equinovarus Alopecia Respiratory distress Agenesis of corpus callosum Micropenis Narrow mouth Scarring Retinopathy Macrotia Flexion contracture Microcephaly Hip dysplasia Psychosis Type II diabetes mellitus Decreased fetal movement Abnormality of the cardiovascular system Amenorrhea Upslanted palpebral fissure Cutaneous photosensitivity Growth hormone deficiency Esotropia Edema Gastrointestinal hemorrhage Full cheeks Sepsis Myopathy Febrile seizures Primary amenorrhea Tapered finger Sleep apnea Hyperinsulinemia Precocious puberty Failure to thrive in infancy Nasal speech Poor suck Infantile muscular hypotonia Scrotal hypoplasia Bicuspid aortic valve Clumsiness Narrow palpebral fissure Spontaneous abortion Hypogonadotrophic hypogonadism Increased body weight Aortic valve stenosis Bradycardia Insulin resistance Sleep disturbance Small hand Short foot Osteopenia Apnea Abnormality of the nervous system Neonatal hypotonia Nystagmus-induced head nodding Clinodactyly Hypoglycemia Hyporeflexia Attention deficit hyperactivity disorder Autism Weight loss Prominent forehead Respiratory failure Hyperactivity Osteoporosis Abnormality of the pinna Stroke Hypogonadism Arachnodactyly Downturned corners of mouth Vomiting Short palm Polymicrogyria Congestive heart failure Abnormality of the dentition Radial deviation of finger Leukemia Genu valgum Delayed puberty Behavioral abnormality Carious teeth Pruritus Short nose Dolichocephaly Infertility Retinal pigment epithelial atrophy Emotional lability Renal cyst Moderate vision loss Macular hole Hypospadias Poor gross motor coordination Almond-shaped palpebral fissure Hypopnea Narrow palm Psychotic episodes Ataxia Hypoplastic labia minora Central adrenal insufficiency Temperature instability Vaginal atresia Triangular mouth High myopia Disseminated intravascular coagulation Acromicria Keratoglobus Frontal upsweep of hair Abnormal light- and dark-adapted electroretinogram Drusen Cystoid macular edema Shallow anterior chamber Glaucoma Central scotoma Optic neuropathy Optic disc pallor Generalized-onset seizure Peripheral neuropathy Pallor Scleral thickening Optic disc drusen Foveoschisis Macular thickening Visual field defect Leber optic atrophy Erysipelas Clitoral hypoplasia Giant melanosomes in melanocytes Truncal obesity Hypopigmentation of the fundus Striae distensae Impaired pain sensation Myeloid leukemia Narrow nasal bridge Polyphagia Macular hypoplasia Decreased muscle mass Hypopigmentation of hair Adrenal insufficiency Skeletal muscle hypertrophy Abnormal macular morphology Bone spicule pigmentation of the retina Glucose intolerance Inflammation of the large intestine Large hands Pulmonary embolism Hypoventilation Anteverted ears Generalized hypopigmentation Amblyopia Epicanthus Poor fine motor coordination Neoplasm of the skin Abdominal obesity Blurred vision Cor pulmonale Hypothermia Abnormal pupil morphology Chromosome breakage Freckling Acrocyanosis Oligomenorrhea Overweight Congenital nystagmus Central hypotonia Abnormality of lipid metabolism Fever Abnormal eyelid morphology Hypertension Severe vision loss Hypoplasia of the corpus callosum Frontal bossing Hyperthreoninemia Hyperthreoninuria Talipes equinovalgus Aplasia/Hypoplasia of the cerebellar vermis Abnormality of the optic disc Hyperactive deep tendon reflexes Recurrent infections Abnormality of neuronal migration Hemiplegia/hemiparesis Abnormal electroretinogram Low anterior hairline Abnormality of retinal pigmentation Exotropia Encephalocele Short philtrum Immunodeficiency Hernia Coarse facial features Developmental regression Platyspondyly Nail dystrophy Papule Hip dislocation Corneal opacity Camptodactyly of finger Erythema Camptodactyly Inguinal hernia Mental deterioration Hydronephrosis Umbilical hernia Hyperkeratosis Cerebral cortical atrophy Dementia Severe short stature Cerebellar hypoplasia Abnormality of the eye Mandibular prognathia Dry skin Abnormality of skeletal morphology Coloboma Joint laxity Hypothyroidism Posteriorly rotated ears Respiratory insufficiency Downslanted palpebral fissures Short corpus callosum Abnormal nasal morphology Hypoplasia of the maxilla Sparse body hair Aplasia/Hypoplasia of the eyebrow Intellectual disability, progressive Hypergonadotropic hypogonadism Split hand Sparse scalp hair EEG abnormality Brachydactyly Microcornea Microretrognathia Abnormality of the skeletal system Macular scar Tremor Hepatomegaly Sensorineural hearing impairment Hypertelorism Myopic astigmatism Aglossia Proboscis Mandibular aplasia Arnold-Chiari malformation Ectopic posterior pituitary Central hypothyroidism Retinal dysplasia Microglossia Posterior embryotoxon Short middle phalanx of finger Anophthalmia Optic nerve hypoplasia Hypotrichosis Pulmonary hypoplasia Depressed nasal bridge Hypoplastic fingernail Abnormality of the upper urinary tract Cheilitis Oxycephaly Thin eyebrow Alopecia totalis Olivopontocerebellar atrophy Recurrent corneal erosions Heat intolerance Subcortical cerebral atrophy Follicular hyperkeratosis Corneal erosion Absent eyelashes Abnormal eyelash morphology Blepharitis Alopecia of scalp Parakeratosis Uveitis Corneal scarring Abnormal nasolacrimal system morphology Oligodactyly Unilateral chest hypoplasia Motor delay Delayed speech and language development High palate Cognitive impairment Pain Abnormal facial shape Neoplasm Ichthyosis follicularis Abnormality of temperature regulation Abnormal pelvis bone morphology Thin fingernail Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Submucous cleft hard palate Ectrodactyly Palmoplantar keratoderma Aganglionic megacolon Multicystic kidney dysplasia Abnormality of the nail Abnormality of the hair Abnormal vertebral morphology Hypohidrosis Hypoplasia of dental enamel Renal dysplasia Omphalocele Recurrent bacterial infections Choanal atresia Epidermal acanthosis Abnormality of the ribs Eczema Postaxial hand polydactyly Nail dysplasia Ectodermal dysplasia Brain atrophy Hemivertebrae Conjunctivitis Atonic seizures Intestinal obstruction Congenital ichthyosiform erythroderma Abnormality of the vertebral column Absent septum pellucidum Mixed hearing impairment Hydroureter Absent eyebrow Keratitis Bifid scrotum Abnormality of dental enamel Unilateral renal agenesis Erythroderma Psoriasiform dermatitis Scaling skin Urticaria Abnormality of the hand Plagiocephaly Opacification of the corneal stroma Depigmented fundus


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