Myopia, and Abdominal pain

Diseases related with Myopia and Abdominal pain

In the following list you will find some of the most common rare diseases related to Myopia and Abdominal pain that can help you solving undiagnosed cases.

Top matches:

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.

FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT Is also known as fhhnc without severe ocular involvement|homg3|hypomagnesemia, isolated renal|hypomagnesemia, primary, due to defect in renal tubular transport of magnesium|renal hypomagnesemia type 3|hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Failure to thrive
  • Strabismus


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). Genetic Heterogeneity of Hermansky-Pudlak SyndromeHPS2 (OMIM ) is caused by mutation in the AP3B1 gene (OMIM ) on chromosome 5q14. HPS3 (OMIM ) is caused by mutation in the HSP3 gene (OMIM ) on chromosome 3q24. HPS4 (OMIM ) is caused by mutation in the HSP4 gene (OMIM ) on chromosome 22q12. HPS5 (OMIM ) is caused by mutation in the HPS5 gene (OMIM ) on chromosome 11p14. HPS6 (OMIM ) is caused by mutation in the HPS6 gene (OMIM ) on chromosome 10q24. HPS7 (OMIM ) is caused by mutation in the DTNBP1 gene (OMIM ) on chromosome 6p22. HPS8 (OMIM ) is caused by mutation in the BLOC1S3 gene (OMIM ) on chromosome 19q13. HPS9 (OMIM ) is caused by mutation in the PLDN gene (OMIM ) on chromosome 15q21. HPS10 (OMIM ) is caused by mutation in the AP3D1 gene (OMIM ) on chromosome 19p13.

HERMANSKY-PUDLAK SYNDROME 1; HPS1 Is also known as delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 1; HPS1

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.

LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lchad deficiency|long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency|lchadd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

Other less relevant matches:

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Medium 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

Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013). Genetic Heterogeneity of Coffin-Siris SyndromeForms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. These include CSS2 (OMIM ), caused by mutation in the ARID1A gene (OMIM ); CSS3 (OMIM ), caused by mutation in the SMARCB1 gene (OMIM ); CSS4 (OMIM ), caused by mutation in the SMARCA4 gene (OMIM ); CSS5 (OMIM ), caused by mutation in the SMARCE1 gene (OMIM ); CSS6 (OMIM ), caused by mutation in the ARID2 gene (OMIM ); and CSS7 (OMIM ), caused by mutation in the DPF2 gene (OMIM ).A similar phenotype, Nicolaides-Baraitser syndrome (NCBRS ), is also caused by mutation in a subunit of this complex, i.e., SMARCA2 (OMIM ).

COFFIN-SIRIS SYNDROME 1; CSS1 Is also known as fifth digit syndrome|coffin-siris syndrome|mrd12|css|mental retardation, autosomal dominant 12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 1; CSS1

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Top 5 symptoms//phenotypes associated to Myopia and Abdominal pain

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Strabismus Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Myopia and Abdominal pain. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Cataract Short stature Scoliosis Kyphosis Congestive heart failure Pain Splenomegaly Malabsorption Depressed nasal bridge Feeding difficulties Vomiting Muscular hypotonia Generalized hypotonia Arrhythmia Abdominal distention Recurrent respiratory infections Delayed skeletal maturation Constipation Hypertension Abnormal bleeding Macrocephaly Portal hypertension Hearing impairment Hepatomegaly Abnormal facial shape Ptosis Sensorineural hearing impairment Ataxia Cryptorchidism Kyphoscoliosis Anorexia Amblyopia Abnormality of dental enamel Patent ductus arteriosus Cognitive impairment Cholelithiasis Renal insufficiency Thrombocytopenia Epistaxis Depressivity Increased bone mineral density Bruising susceptibility Pericardial effusion Abnormal heart morphology Neoplasm Osteoporosis Hypertrophic cardiomyopathy Osteopenia Proteinuria Corneal opacity Spasticity Hepatosplenomegaly Feeding difficulties in infancy Microcephaly Hematuria Myoclonus Astigmatism Hernia Low-set, posteriorly rotated ears Atrial septal defect Hypopigmentation of the skin Low-set ears Hypertelorism Dyspnea Visual impairment Downslanted palpebral fissures Fatigue Recurrent infections Cardiomyopathy Ventricular septal defect

Rare Symptoms - Less than 30% cases

Proptosis Increased body weight Bicuspid aortic valve Arnold-Chiari malformation Neurological speech impairment Elevated alkaline phosphatase Lymphedema Delayed puberty Spastic paraparesis Failure to thrive in infancy Hypogonadism Precocious puberty Sacral dimple Abnormality of eye movement Premature graying of hair Arnold-Chiari type I malformation Dementia Lymphopenia Postnatal growth retardation Abnormal cardiac septum morphology Abnormal pyramidal sign Spina bifida occulta Broad forehead Gastroesophageal reflux Hypotrichosis Pulmonic stenosis Blue irides Facial asymmetry Rectal prolapse Anemia Diarrhea Dental malocclusion Coarctation of aorta Ventricular hypertrophy Neurofibromas Pulmonary arterial hypertension Lymphadenopathy Epicanthus Intellectual disability, mild Vertebral compression fractures Supranuclear gaze palsy Multiple myeloma Abnormal myocardium morphology Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Generalized osteosclerosis Periorbital edema Spontaneous hematomas Fever Brachydactyly Orthopnea Hepatocellular carcinoma Erlenmeyer flask deformity of the femurs High palate Decreased beta-glucocerebrosidase protein and activity Hematological neoplasm Cardiac valve calcification Horizontal supranuclear gaze palsy Tremor Gait disturbance Hydrocephalus Edema Hypertonia Micrognathia Headache Dilatation Aggressive behavior Clinodactyly Abnormality of skin pigmentation Cirrhosis Ascites Generalized myoclonic seizures Posteriorly rotated ears Syncope Cyanosis Abnormality of the cardiovascular system Pancytopenia Progressive neurologic deterioration Decreased body weight Bone pain Oculomotor apraxia Aseptic necrosis Leukopenia Reduced bone mineral density Increased susceptibility to fractures Abnormality of the thorax Clubbing Leukocytosis Menorrhagia Pectus excavatum Increased antibody level in blood Petechiae Interstitial pulmonary abnormality Abnormality of cardiovascular system morphology Exertional dyspnea Osteolysis Small nail Behavioral abnormality Craniosynostosis Peripheral neuropathy Myopathy Visual loss Elevated serum creatine phosphokinase Confusion Hypoglycemia Carious teeth Joint laxity Joint stiffness Sudden cardiac death Intellectual disability, moderate Autistic behavior Wide mouth Macrotia Glaucoma Clinodactyly of the 5th finger Coma Photophobia Peripheral demyelination Umbilical hernia Coarse facial features Abnormality of retinal pigmentation Restrictive ventilatory defect Epidermal acanthosis Hyperkeratosis Thickened skin Long eyelashes Immunodeficiency Melanocytic nevus Hemangioma Pulmonary fibrosis Cleft palate Generalized hirsutism Inguinal hernia Delayed speech and language development Intrauterine growth retardation Hypopigmentation of hair Hallux valgus Respiratory distress Gingival bleeding Abnormal form of the vertebral bodies Open mouth Thick lower lip vermilion Enuresis Nevus Hypotelorism Decreased plasma carnitine Broad nasal tip Recurrent urinary tract infections Nephrolithiasis Gingival overgrowth Recurrent hypoglycemia Hypocalcemia Lymphangioma Nephrocalcinosis Hypercalciuria Arthritis Thick vermilion border Multiple lipomas Polyuria Male infertility Abnormality of the neck Motor delay Wide nasal bridge Loss of consciousness Abnormality of lipid metabolism Tetralogy of Fallot Asymmetry of the thorax Renal hypoplasia Hepatoblastoma Ectopic posterior pituitary Duodenal ulcer Intussusception Gastric ulcer Venous malformation Facial hypertrichosis Premature thelarche Thymus hyperplasia Severe expressive language delay Retinal hamartoma Bronchogenic cyst Prominent interphalangeal joints Short distal phalanx of the 5th finger Hypoplastic fifth fingernail Retinal nonattachment Long penis Thick nasal alae Nevus sebaceous Hypotrichosis of the scalp Nephrogenic diabetes insipidus Keloids Upper limb asymmetry Testicular neoplasm Neoplasm of the central nervous system Generalized hyperkeratosis Thrombophlebitis Vascular skin abnormality Asymmetric growth Metatarsus valgus Facial hyperostosis Calvarial hyperostosis Portal vein thrombosis Enlarged polycystic ovaries Macrodactyly Epibulbar dermoid Visceral angiomatosis Sirenomelia Narrow internal auditory canal Generalized hypertrichosis Epidermal nevus Hypertrichosis Abnormal subcutaneous fat tissue distribution Dandy-Walker malformation Short 5th finger Dislocated radial head Abnormality of digit Single transverse palmar crease Partial agenesis of the corpus callosum Delayed eruption of teeth Ectopic kidney Intestinal malrotation Anonychia Cutis marmorata Growth hormone deficiency Eczema Tics Accelerated skeletal maturation Coxa valga Congenital diaphragmatic hernia Horseshoe kidney Decreased fetal movement Low anterior hairline Preauricular skin tag Tall stature Cerebellar vermis hypoplasia Choanal atresia Short distal phalanx of the 5th toe Sparse scalp hair Enlarged cisterna magna Neoplasm of the liver Neoplasm of the thymus Abnormality of the head Central heterochromia Connective tissue nevi Depigmentation/hyperpigmentation of skin Hypertrophy of skin of soles Mandibular hyperostosis Abnormality of the skeletal system Hypoplasia of the corpus callosum Anterior pituitary hypoplasia Hypospadias Agenesis of corpus callosum Thin upper lip vermilion Hydronephrosis Abnormality of the pinna Short sternum Respiratory tract infection Short philtrum Severe global developmental delay Synophrys Aplasia/Hypoplasia of the patella Bulbous nose Patellar hypoplasia Thick eyebrow Short distal phalanx of finger Wide nose Aplasia of the uterus Hirsutism Lumbosacral hirsutism Everted lower lip vermilion Flexion contracture Lacrimation abnormality Dyslexia Cerebral ischemia Abnormality of refraction Gait imbalance Periorbital fullness Peripheral pulmonary artery stenosis Subvalvular aortic stenosis Abnormal renal morphology Bladder diverticulum Abnormality of the cerebral vasculature Cystic renal dysplasia Peptic ulcer Arterial stenosis Dysgraphia Abnormality of nervous system morphology Phonophobia Parathyroid hyperplasia Urethral stenosis Abnormal glucose tolerance Villous atrophy Large earlobe Retinal vascular tortuosity Soft skin Celiac disease High hypermetropia Prematurely aged appearance Facial cleft Restlessness Insomnia Megalocornea Posterior embryotoxon Nevus flammeus Poor coordination Tubulointerstitial nephritis Pulmonary artery stenosis Abnormality of the vasculature Patellar dislocation Multiple renal cysts Down-sloping shoulders Vocal cord paralysis Hypoplasia of the zygomatic bone Chronic constipation Right ventricular hypertrophy Increased nuchal translucency Thyroid hypoplasia Open bite Elfin facies Impaired visuospatial constructive cognition Calcification of the aorta Unilateral renal hypoplasia Myxomatous mitral valve degeneration Paroxysmal bursts of laughter Abnormal carotid artery morphology Abnormality of the diencephalon Medial flaring of the eyebrow Bilateral vocal cord paralysis Flat cornea Thyroid hemiagenesis Nystagmus-induced head nodding Overfriendliness Early onset of sexual maturation Dyssynergia Stellate iris Functional abnormality of male internal genitalia Descending aorta hypoplasia Vocal cord dysfunction Supravalvular aortic stenosis Abnormal social behavior Abnormal endocardium morphology Nocturia Aplasia/Hypoplasia of the iris Renal duplication Colonic diverticula Vascular tortuosity Abnormality of the ankles Tubulointerstitial abnormality Overriding aorta Aortic arch aneurysm Obsessive-compulsive trait Synostosis of joints Renovascular hypertension Abnormality of the bladder Renal artery stenosis Coronary artery stenosis Retinal arteriolar tortuosity Hyperacusis Pelvic kidney Food intolerance Infantile hypercalcemia Abnormality of the gastric mucosa Vertebral segmentation defect Glucose intolerance Hyperreflexia Joint hyperflexibility Paralysis Blepharophimosis Scarring Attention deficit hyperactivity disorder Stroke Small for gestational age Nausea and vomiting Genu valgum Smooth philtrum Irritability Dysmetria Oral cleft Myofibrillar myopathy Sleep disturbance Postural instability Hypodontia Macroglossia Full cheeks Chest pain Protruding ear Hyperlordosis Esotropia Diabetes mellitus Dysarthria Abnormality of the dentition Short nose Long philtrum Malar flattening Midface retrusion Absent speech Obesity Cerebellar hypoplasia Cerebral cortical atrophy Developmental regression Micropenis Autism Hypothyroidism High forehead Arthralgia Pes planus Anxiety Cleft lip Abnormality of the kidney Vesicoureteral reflux Otitis media Tracheoesophageal fistula Dysphonia Widely spaced teeth Ischemic stroke Infantile muscular hypotonia Schizophrenia Adducted thumb Abnormality of pelvic girdle bone morphology Incoordination Polycystic ovaries Redundant skin Abnormal dermatoglyphics Hypercalcemia Radioulnar synostosis Abnormality of the voice Nephritis Chronic otitis media Obsessive-compulsive behavior Unilateral renal agenesis Abnormality of dental morphology Hypoplastic toenails Progressive hearing impairment Cutis laxa Renal agenesis Myocardial infarction Microdontia Dehydration Narrow forehead Mitral valve prolapse Hypoplasia of penis Abnormality of extrapyramidal motor function Cardiomegaly Hypsarrhythmia Type II diabetes mellitus Hemiparesis Abnormality of the fingernails Recurrent otitis media Mitral regurgitation Involuntary movements Aortic valve stenosis Hoarse voice Narrow face Pointed chin Hypogonadotrophic hypogonadism Hemivertebrae Thin bony cortex Myelodysplasia Buphthalmos Tetraplegia Telecanthus Distal muscle weakness Prominent nasal bridge Arthrogryposis multiplex congenita Distal amyotrophy Distal sensory impairment Underdeveloped nasal alae Neonatal hypotonia Spastic tetraplegia Aganglionic megacolon Hypohidrosis Leukodystrophy Abnormal autonomic nervous system physiology Torticollis Hypopigmented skin patches Abnormality of the nervous system Pes cavus CNS hypomyelination Elevated plasma acylcarnitine levels Hypoketotic hypoglycemia Cholestatic liver disease Reduced consciousness/confusion Abnormal left ventricle morphology Hepatic encephalopathy Abnormal chorioretinal morphology Gastrointestinal inflammation Acute hepatic steatosis Hyporeflexia Reye syndrome-like episodes Posterior staphyloma Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Abnormality of acid-base homeostasis 3-hydroxydicarboxylic aciduria Intellectual disability, severe Areflexia Anosmia Decreased nerve conduction velocity Rhabdomyolysis Abnormality of the eye Hypoplasia of the semicircular canal Absent brainstem auditory responses Dysmyelinating leukodystrophy Long-segment aganglionic megacolon Spasmus nutans EEG abnormality Parkinsonism Neonatal asphyxia Apraxia Osteoarthritis Hepatic fibrosis Meningitis Osteomyelitis Abnormality of coagulation Pathologic fracture Myelin outfoldings Hypoplasia of the cochlea Intestinal obstruction Intestinal pseudo-obstruction Congenital nystagmus Abnormal eyebrow morphology Heterochromia iridis White hair Demyelinating peripheral neuropathy White forelock Ileus Alacrima Meconium ileus White eyelashes White eyebrow Microcolon Cerebral dysmyelination Decreased lacrimation Spotty hyperpigmentation Peripheral hypomyelination Preeclampsia Chorioretinal atrophy Bipolar affective disorder Hypocitraturia Hyposthenuria Renal potassium wasting Renal magnesium wasting Hypermagnesiuria Medullary nephrocalcinosis Renal calcium wasting Impaired urinary acidification Enuresis nocturna Blindness Weight loss Neutropenia Gastrointestinal hemorrhage Abnormal lung morphology Abnormality of the hair Acanthosis nigricans Chorioretinitis Persistence of primary teeth Inflammation of the large intestine Hyperuricemia Muscle weakness Acidosis Hypermetropia Infertility Paresthesia Chronic kidney disease Polydipsia Renal tubular acidosis Tetany Acute kidney injury Amelogenesis imperfecta Ankylosis Hypoparathyroidism Hypomagnesemia Oligospermia Chondrocalcinosis Melanoma Albinism Abnormal electroretinogram Hepatic steatosis Retinopathy Nyctalopia Dilated cardiomyopathy Peripheral axonal neuropathy Nausea Hepatic failure Retinal dystrophy Metabolic acidosis Elevated hepatic transaminase Polyneuropathy Brain atrophy Pigmentary retinopathy Exotropia Decreased liver function Sensorimotor neuropathy Tachypnea Abnormality of the liver Jaundice Basal cell carcinoma Hematochezia Prolonged bleeding time Colitis Freckling Iris hypopigmentation Severe vision loss Abnormality of visual evoked potentials Ocular albinism Abnormality of the optic nerve Abnormality of metabolism/homeostasis Ulcerative colitis Abnormal thrombocyte morphology Impaired platelet aggregation Squamous cell carcinoma of the skin Partial albinism Menometrorrhagia Freckles in sun-exposed areas Protuberant abdomen Increased serum ferritin Arterial thrombosis Renal cyst Carcinoma Finger syndactyly Hip dislocation Dolichocephaly Long face Polymicrogyria Gliosis Syndactyly Round face Decreased antibody level in blood Overgrowth High myopia Heterotopia Subcutaneous nodule Sinusitis Skeletal dysplasia Anteverted nares Abnormality of the nail Panuveitis Multiple lentigines Optic disc hypoplasia Hypoplastic aortic arch Amegakaryocytic thrombocytopenia Superior pectus carinatum Reduced factor XII activity Neurofibrosarcoma Juvenile myelomonocytic leukemia Optic atrophy Loose anagen hair Pectus excavatum of inferior sternum Gonadal neoplasm Reduced factor XIII activity Nasogastric tube feeding Preductal coarctation of the aorta Postductal coarctation of the aorta Abnormal vertebral morphology Venous thrombosis Synovitis Abnormality of the wrist Lipoma Exostoses Papilledema Capillary hemangioma Spinal cord compression Abnormality of finger Macroorchidism Abnormal lung lobation Meningioma Deep venous thrombosis Varicose veins Arteriovenous malformation Lower limb asymmetry Hemihypertrophy Anisocytosis Neoplasm of the lung Irregular hyperpigmentation Abnormality of the metacarpal bones Hyperostosis Goiter Palmoplantar hyperkeratosis Reduced number of teeth Growth abnormality Cachexia Lipodystrophy Chorioretinal coloboma Diabetes insipidus Spinal canal stenosis Decreased muscle mass Disproportionate tall stature Multiple cafe-au-lait spots Hamartoma Ovarian neoplasm Generalized hyperpigmentation Pulmonary embolism Schwannoma Shield chest Edema of the lower limbs Lower limb hyperreflexia Progressive cerebellar ataxia Intention tremor Hydrops fetalis Hypoalbuminemia Opisthotonus Abnormal retinal morphology Abnormality of the sternum Ophthalmoplegia Bulbar palsy Abnormal heart valve morphology Thoracic kyphosis Slow saccadic eye movements Hypercoagulability Restrictive deficit on pulmonary function testing Protein-losing enteropathy Neurodegeneration Generalized tonic-clonic seizures Abnormal thrombosis Vascular calcification Esodeviation Hypersplenism Fractures of the long bones Abnormality of bone marrow cell morphology Flank pain Arthralgia of the hip Abnormal platelet function Biliary tract obstruction Pallor Puberty and gonadal disorders Dysphagia Dystonia Encephalopathy Difficulty walking Rigidity Mental deterioration Astrocytosis Aortic valve calcification Restrictive cardiomyopathy Cystic hygroma Poor suck Pterygium Patent foramen ovale Cubitus valgus Radial deviation of finger Abnormality of the coagulation cascade Abnormality of color vision Abnormality of the vertebral column Plagiocephaly Neuroblastoma Abnormality of blood and blood-forming tissues Gonadal dysgenesis Malignant hyperthermia Drusen Nonimmune hydrops fetalis Atrial flutter Azoospermia Left ventricular hypertrophy Abnormal saccadic eye movements Sparse hair Mitral valve calcification Abnormality of ion homeostasis Abnormality of the acoustic reflex Sleep myoclonus Short neck Rod-cone dystrophy Polyhydramnios Leukemia Clumsiness High, narrow palate Triangular face Webbed neck Wide intermamillary distance Amenorrhea Low posterior hairline Primary amenorrhea Atrophy/Degeneration involving the corticospinal tracts


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