Hypertelorism, and Subcutaneous nodule

Diseases related with Hypertelorism and Subcutaneous nodule

In the following list you will find some of the most common rare diseases related to Hypertelorism and Subcutaneous nodule that can help you solving undiagnosed cases.

Top matches:

A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn|pigmented moles|lcmn|giant congenital pigmented nevus|giant congenital melanocytic nevus|congenital pigmented nevus|giant pigmented hairy nevus|gmn

Related symptoms:

  • Seizures
  • Hypertelorism
  • Neoplasm
  • Failure to thrive
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about LARGE CONGENITAL MELANOCYTIC NEVUS

Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.

INSULIN-RESISTANCE SYNDROME TYPE A Is also known as diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|iran, type a

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Brachydactyly
  • Abnormality of the dentition
  • Intellectual disability, mild


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INSULIN-RESISTANCE SYNDROME TYPE A

Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

Other less relevant matches:

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.

CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME Is also known as beare-stevenson syndrome|cutis gyrata syndrome of beare and stevenson|beare-stevenson cutis gyrata syndrome

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME

Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndr

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Pain
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE

High match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

High match PROTEUS SYNDROME

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.

17Q23.1Q23.2 MICRODELETION SYNDROME Is also known as 17q23.1-q23.2 microdeletion syndrome|del(17)(q23.1q23.2)|monosomy 17q23.1q23.2|monosomy 17q23.1-q23.2

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q23.1Q23.2 MICRODELETION SYNDROME

Medium match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Subcutaneous nodule

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Melanocytic nevus Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hydrocephalus Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Subcutaneous nodule. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Proptosis Ptosis Intellectual disability, mild Frontal bossing Hyperkeratosis Overgrowth Brachydactyly Intellectual disability Gingival overgrowth Depressed nasal bridge Narrow mouth Epidermal acanthosis Seizures Hearing impairment Failure to thrive Mitral valve prolapse Atrial septal defect Cataract Flexion contracture Varicose veins Telangiectasia Kyphosis Macrocephaly Epicanthus Hypothyroidism Pain Multiple cafe-au-lait spots Pes planus Osteolysis Generalized hypotonia Abnormality of the kidney Strabismus Cryptorchidism Pectus excavatum Dilatation Hypertension Downslanted palpebral fissures Anteverted nares Cognitive impairment Low-set ears Low-set, posteriorly rotated ears Growth delay Abnormality of the face Hypertrichosis Abnormality of cardiovascular system morphology Nevus Carious teeth Macrotia Diabetes mellitus Abnormality of skin pigmentation Melanoma Delayed puberty Generalized hirsutism Neoplasm Narrow nasal bridge

Rare Symptoms - Less than 30% cases

Neoplasm of the skin Hypopigmented skin patches Sensorineural hearing impairment Redundant neck skin Muscular hypotonia Aplasia/Hypoplasia of the earlobes Skin tags Clinodactyly of the 5th finger Open mouth Visceral angiomatosis Reduced number of teeth Redundant skin Wide nasal bridge Splenomegaly Fever Abnormal facial shape Abnormality of the nail Protruding ear Palmoplantar keratoderma Dolichocephaly Craniosynostosis Umbilical hernia Hypermelanotic macule Malar flattening Ventriculomegaly Round face Ovarian neoplasm Intrauterine growth retardation Macule Alopecia Hip dislocation Talipes equinovarus Papule Joint hypermobility Flat face Excessive wrinkled skin Blue sclerae Aplasia/Hypoplasia of the abdominal wall musculature Sprengel anomaly Severe sensorineural hearing impairment Sleep apnea Hallux valgus Cafe-au-lait spot Retinopathy Lipodystrophy Scleroderma Hyperreflexia Patent ductus arteriosus Dyspnea Joint hyperflexibility Pectus carinatum Posteriorly rotated ears Delayed skeletal maturation Abnormal cardiac septum morphology Full cheeks Hypospadias Epidermal nevus Optic atrophy Colonic diverticula Glaucoma Long penis Prolactin excess Carcinoma Hemangioma Abnormality of the thyroid gland Abnormality of the ear Enlarged polycystic ovaries Polymicrogyria Macroorchidism Meningioma Generalized hypertrichosis Hirsutism Micrognathia Decreased antibody level in blood Headache Thickened skin Mandibular prognathia Palmoplantar hyperkeratosis Goiter Brachycephaly Arteriovenous malformation Hypoplasia of the maxilla Abnormality of the dentition Gynecomastia Bulbous nose Lymphopenia Arthritis Kyphoscoliosis Recurrent infections Intellectual disability, moderate Immunodeficiency Delayed speech and language development Macroglossia Papilledema Generalized hyperpigmentation Hamartoma Generalized hyperkeratosis Neoplasm of the central nervous system Myopia Lipoma Acanthosis nigricans Multiple lipomas Hemihypertrophy Lower limb asymmetry Abnormality of the neck Growth abnormality Hydrocele testis Abnormality of the metacarpal bones Abnormality of dental enamel Anisocytosis Venous thrombosis Abnormal vertebral morphology Scaphocephaly Hashimoto thyroiditis Arterial thrombosis Buphthalmos Renal cell carcinoma Cachexia Abnormality of finger Deep venous thrombosis Capillary hemangioma Neoplasm of the lung Megalencephaly Irregular hyperpigmentation Spinal canal stenosis Abnormality of the vasculature Pulmonary embolism Exostoses Bilateral camptodactyly Neurofibromas Abnormality of the wrist Pericardial effusion Disproportionate tall stature Decreased muscle mass Spinal cord compression Diabetes insipidus Hyperostosis Chorioretinal coloboma Abnormal lung lobation Furrowed tongue Abnormality of the penis Sinusitis Fibroadenoma of the breast Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Decreased proportion of CD4-positive T cells Dysplastic gangliocytoma of the cerebellum Adenoma sebaceum Trichilemmoma Subcutaneous lipoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Neoplasm of the thyroid gland Fibroma Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Retroperitoneal fibrosis Nystagmus Abnormality of the uterus Abdominal distention Astrocytoma Ovarian cyst Intestinal polyposis Angioid streaks of the fundus Cellular immunodeficiency Lymphedema Abnormality of retinal pigmentation Heterotopia Abnormal form of the vertebral bodies High myopia Gliosis Sudden cardiac death Renal cyst Hamartomatous polyposis Upper eyelid edema Long face Confusion Facial asymmetry Cavernous hemangioma Finger syndactyly Joint stiffness Skeletal dysplasia Abdominal pain Constipation Visual loss Syndactyly Papilloma Bone cyst Nasal obstruction Myofibrillar myopathy Micropenis Wide intermamillary distance Growth hormone deficiency Recurrent fractures Polyneuropathy Cleft upper lip Ichthyosis Lymphadenopathy Abnormality of the foot Malabsorption Hypotrichosis Apnea Camptodactyly Conductive hearing impairment Hepatosplenomegaly Hypogonadism Amenorrhea Hyperplasia of the maxilla Anemia Hepatomegaly Ventricular septal defect Myelofibrosis Generalized lymphadenopathy Corneal arcus Broad finger Severe short stature Edema Pancreatic hypoplasia Hernia Clinodactyly Abnormal heart morphology Pneumonia Decreased testicular size Bilateral sensorineural hearing impairment Chalazion Episodic fever Histiocytosis Increased antibody level in blood Elevated erythrocyte sedimentation rate Microcytic anemia Lipoatrophy Polycythemia Exocrine pancreatic insufficiency Hyperglycemia Enlarged kidney Abnormal eyebrow morphology Aspiration pneumonia Communicating hydrocephalus Decreased serum testosterone level Skin nodule Leukocytosis Stridor Cardiomegaly Aspiration Epistaxis Hypertriglyceridemia Primary amenorrhea Bronchiectasis Hyperpigmentation of the skin Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Hypergonadotropic hypogonadism Elbow flexion contracture Type I diabetes mellitus Plagiocephaly Azoospermia Psoriasiform dermatitis Facial telangiectasia Coxa magna Thin bony cortex Portal vein thrombosis Depigmentation/hyperpigmentation of skin Connective tissue nevi Central heterochromia Neoplasm of the thymus Abnormal subcutaneous fat tissue distribution Recurrent pharyngitis Bronchogenic cyst Retinal hamartoma Thymus hyperplasia Nevus sebaceous Facial hyperostosis Narrow internal auditory canal Sirenomelia Macrodactyly Calvarial hyperostosis Mandibular hyperostosis Thrombophlebitis Thick nasal alae Asymmetric growth Cervical lymphadenopathy Stiff skin Asymmetry of the thorax Vascular skin abnormality Venous malformation Metatarsus valgus Epibulbar dermoid Nephrogenic diabetes insipidus Keloids Upper limb asymmetry Testicular neoplasm Lymphangioma Hypertrophy of skin of soles Snoring Panniculitis Blepharitis Bicuspid aortic valve Congenital contracture Chronic otitis media Long fingers Slender finger Shawl scrotum Mild global developmental delay Widely spaced teeth Bifid nose Patellar hypoplasia Moderate global developmental delay Long toe Shallow acetabular fossae Retinopathy of prematurity Sacral dimple Sandal gap Microcephaly Small for gestational age Behavioral abnormality Gastroesophageal reflux Episcleritis Aggressive behavior Postnatal growth retardation Hodgkin lymphoma Arachnodactyly Bilateral single transverse palmar creases Highly arched eyebrow Limitation of joint mobility Esotropia Pulmonary arterial hypertension Long eyelashes Abnormality of epiphysis morphology Retinal nonattachment Internal hemorrhage Thyroiditis Small nail Hypoplasia of the zygomatic bone Abnormality of the skull Hearing abnormality Turricephaly Underdeveloped supraorbital ridges Anteriorly placed anus Natal tooth Limited elbow extension Bifid scrotum Abnormality of vision Arnold-Chiari malformation Narrow palate Choanal atresia Prominent nasal bridge Breech presentation Abnormality of the eye Agenesis of corpus callosum Midface retrusion Respiratory distress Cleft palate Sclerotic cranial sutures Distal tapering of metatarsals Thin metatarsal cortices Peripheral opacification of the cornea Ankylosis of feet small joints Widened metacarpal shaft Interphalangeal joint erosions Osteolysis involving tarsal bones Choanal stenosis Abnormality of the pancreas Carpal osteolysis Webbed neck External genital hypoplasia Bundle branch block Bilateral cryptorchidism Abnormality of the voice Myelodysplasia Hyperextensible skin Spina bifida occulta Scapular winging Left ventricular hypertrophy Abnormality of the genital system Myocardial infarction Tetralogy of Fallot Specific learning disability Triangular face Cloverleaf skull Thick vermilion border Pulmonic stenosis Hypertrophic cardiomyopathy Neonatal hypotonia Arrhythmia Short neck Preauricular skin furrow Palmoplantar cutis gyrata Prominent scrotal raphe Prominent umbilicus Palmoplantar cutis laxa Craniofacial dysostosis Oxycephaly Thickened helices Thin metacarpal cortices Metatarsal osteolysis Atrioventricular canal defect Prominence of the premaxilla Growth hormone excess Insulin-resistant diabetes mellitus Increased number of teeth Hyperinsulinemia Polycystic ovaries Accelerated skeletal maturation Insulin resistance Type II diabetes mellitus Narrow forehead Muscle cramps Obesity Nevus spillus Congenital giant melanocytic nevus Cutaneous melanoma Menstrual irregularities Narrow nasal ridge Thick hair Rhabdomyosarcoma Periorbital fullness Calvarial skull defect Deep philtrum Sarcoma Broad nasal tip Everted lower lip vermilion Pruritus Broad forehead Prominent forehead Long philtrum Short nose Ketoacidosis Gait disturbance Metacarpal osteolysis Ankle contracture Severe generalized osteoporosis Finger swelling C1-C2 subluxation Contractures of the large joints Protrusio acetabuli Broad metatarsal Camptodactyly of toe Wrist flexion contracture Delayed closure of the anterior fontanelle Generalized osteoporosis Vertebral compression fractures Antinuclear antibody positivity Ankylosis Hip contracture Pes cavus Arthropathy Abnormality of the thorax Metaphyseal widening Knee flexion contracture Decreased body weight Split hand Interphalangeal joint contracture of finger Delayed eruption of teeth Small hand Corneal opacity Arthralgia Coarse facial features Osteopenia Osteoporosis Decreased fertility Freckling Hyperthyroidism Peripheral arteriovenous fistula Cystocele Hypoplastic lacrimal duct Arteriovenous fistulas of celiac and mesenteric vessels Uterine prolapse Uterine rupture Arterial rupture Foot acroosteolysis Spontaneous pneumothorax Molluscoid pseudotumors Coronary artery aneurysm Gingival recession Pulmonary artery aneurysm Normal pressure hydrocephalus Renovascular hypertension Hemothorax Absent earlobe Arteriovenous fistula Cigarette-paper scars Arterial dissection Abnormality of the gingiva Abnormal oral frenulum morphology Gastrointestinal infarctions Dermal translucency Ascending tubular aorta aneurysm Abnormality of hair texture Ocular pain Arterial stenosis Premature loss of primary teeth Premature delivery because of cervical insufficiency or membrane fragility Hypermobility of distal interphalangeal joints Pneumothorax Chronic diarrhea Acute myeloid leukemia Cellulitis Cystic hygroma Cutis marmorata Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Incoordination Breast carcinoma Increased intracranial pressure Drooling Cranial nerve paralysis Exotropia Broad thumb Ataxia Intention tremor Lymphoma Abnormal cerebellum morphology Nausea and vomiting Leukemia Proximal muscle weakness Autism Diarrhea Myopathy Tremor Skeletal muscle atrophy Motor delay High palate Muscle weakness Periorbital edema Bladder diverticulum Neuroblastoma Inguinal hernia Thin skin Osteoarthritis Microdontia Abnormality of the skin Migraine Premature birth Abnormal bleeding High, narrow palate Bruising susceptibility Thin vermilion border Vertigo Telecanthus Deeply set eye Respiratory insufficiency Congenital hip dislocation Numerous nevi Hypoplasia of the ovary Abnormal pulmonary valve morphology Abnormal endocardium morphology Multiple lentigines Abnormality of the pulmonary artery Abnormal localization of kidney Abnormal aortic valve morphology Shield chest Abnormal mitral valve morphology Wolff-Parkinson-White syndrome Right ventricular hypertrophy Premature skin wrinkling Curly hair Cardiac arrest Joint dislocation Abnormal pupil morphology Premature loss of teeth Reduced consciousness/confusion Osteolytic defects of the phalanges of the hand Hematochezia Abnormally large globe Periodontitis Aortic dissection Gingivitis Transient ischemic attack Narrow nose Abnormal eyelash morphology Subarachnoid hemorrhage Dilatation of the cerebral artery Alopecia of scalp Esophageal atresia Short chin Hemoptysis Prematurely aged appearance Keratoconus Abnormal joint morphology Fragile skin Abnormal heart valve morphology Telangiectasia of the skin Aplasia/Hypoplasia of the eyebrow Rheumatoid arthritis Aortic aneurysm Hypokalemia Abnormality of the urinary system Tinnitus Abnormal intestine morphology Seborrheic keratosis


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