Intellectual disability, and Abnormality of skin pigmentation

Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is characterized by diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules. These features, which involve the face, neck, trunk, and limbs, are seen at birth or develop early in infancy (summary by Wang et al., 2009 and Amyere et al., 2011).Also see familial progressive hyperpigmentation (FPH1 ).

HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE; FPHH Is also known as melanosis universalis hereditaria|hyperpigmentation, familial progressive, 2, formerly|muh|fph2, formerly

• Intellectual disability
• Growth delay
• Neoplasm
• Hyperkeratosis
• Hypopigmentation of the skin

SOURCES: OMIM MENDELIAN

Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.

CHOROIDEREMIA Is also known as tcd|chm|tapetochoroidal dystrophy|tapetochoroidal dystrophy, progressive

• Intellectual disability
• Hearing impairment
• Cataract
• Visual impairment
• Myopia

SOURCES: ORPHANET OMIM MENDELIAN

Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Clinical manifestations include mucocutaneous abnormalities, bone marrow failure, and an increased predisposition to cancer, among other variable features (summary by Vulliamy et al., 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

• Intellectual disability
• Growth delay
• Neoplasm
• Thrombocytopenia
• Nail dystrophy

SOURCES: OMIM MENDELIAN

Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.

NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER Is also known as microcephaly and chromosomal instability without immunodeficiency|nbsld|microcephaly and spontaneous chromosome instability without immunodeficiency|nbs-like disorder|rad50 deficiency

• Intellectual disability
• Short stature
• Microcephaly
• Ataxia
• Spasticity

SOURCES: MESH ORPHANET OMIM MENDELIAN

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

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

SOURCES: OMIM ORPHANET MENDELIAN

Watson syndrome is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased intellectual ability (Watson, 1967), and short stature (Partington et al., 1985). Most affected individuals have relative macrocephaly and Lisch nodules and about one-third of those affected have neurofibroma (Allanson et al., 1991).

WATSON SYNDROME; WTSN Is also known as cafe-au-lait spots with pulmonic stenosis|pulmonic stenosis with cafe-au-lait spots

• Intellectual disability
• Short stature
• Hearing impairment
• Macrocephaly
• Pulmonic stenosis

SOURCES: OMIM MENDELIAN

• Intellectual disability

SOURCES: OMIM MENDELIAN

• Intellectual disability
• Seizures

SOURCES: OMIM MENDELIAN

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

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

SOURCES: ORPHANET MESH OMIM MENDELIAN

Spinal neurofibromatosis is an autosomal dominant disorder characterized by a high load of spinal tumors. These tumors may be asymptomatic or result in neurologic symptoms, including back pain, difficulty walking, and paresthesias. Spinal NF is considered to be a subtype of neurofibromatosis type I (NF1 ), which is an allelic disorder. Patients with spinal NF may or may not have the classic cutaneous cafe-au-lait pigmentary macules or ocular Lisch nodules typically observed in patients with classic NF1. Patients with spinal NF should be followed closely for spinal sequelae (summary by Burkitt Wright et al., 2013).

NEUROFIBROMATOSIS, FAMILIAL SPINAL Is also known as fsnf

• Intellectual disability
• Scoliosis
• Neoplasm
• Pain
• Difficulty walking

SOURCES: MESH OMIM MENDELIAN