Hyperreflexia, and Stage 5 chronic kidney disease

Diseases related with Hyperreflexia and Stage 5 chronic kidney disease

In the following list you will find some of the most common rare diseases related to Hyperreflexia and Stage 5 chronic kidney disease that can help you solving undiagnosed cases.

Top matches:

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|js-h|joubert syndrome with congenital hepatic fibro

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Medium match PIERSON SYNDROME

Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.

PIERSON SYNDROME Is also known as microcoria-congenital nephrotic syndrome|microcoria-congenital nephrosis syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Visual impairment
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PIERSON SYNDROME

Other less relevant matches:

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also been associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E Is also known as cmtdie|charcot-marie-tooth disease-nephropathy syndrome|charcot-marie-tooth neuropathy with focal segmental glomerulonephritis

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Fever
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A Is also known as bartter syndrome, neonatal, with sensorineural deafness|bsnd

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A

CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE Is also known as cystinosis, intermediate

Related symptoms:

  • Short stature
  • Failure to thrive
  • Muscle weakness
  • Visual impairment
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME Is also known as mitochondrial dna maintenance syndrome due to mgme1 deficiency|peo-myopathy-emaciation syndrome|mtdna maintenance syndrome due to mgme1 deficiency

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Muscle weakness
  • Ptosis
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME

Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.

ZELLWEGER SYNDROME Is also known as zs|cerebrohepatorenal syndrome|zws|chr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ZELLWEGER SYNDROME

Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Top 5 symptoms//phenotypes associated to Hyperreflexia and Stage 5 chronic kidney disease

Symptoms // Phenotype % cases
Renal insufficiency Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Visual impairment Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Hyporeflexia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Stage 5 chronic kidney disease. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Sensorineural hearing impairment Hepatomegaly Areflexia Generalized hypotonia Muscular hypotonia Pigmentary retinopathy Abnormality of the liver Visual loss Short stature Portal hypertension Retinopathy Muscle weakness Elevated hepatic transaminase Proteinuria Seizures Hepatic failure Round face Fatigue Growth delay Respiratory insufficiency Congestive heart failure Nystagmus Strabismus Optic disc pallor Cholestasis Multicystic kidney dysplasia Delayed puberty Premature birth Polydipsia Nephrocalcinosis Prominent forehead Chronic hepatic failure Glomerulosclerosis Cardiomyopathy Acidosis Respiratory failure Micrognathia Patent ductus arteriosus Encephalopathy Feeding difficulties Vomiting Skeletal muscle atrophy Blindness Optic atrophy Edema Gastrointestinal hemorrhage Malabsorption Macrocephaly Jaundice Agenesis of corpus callosum Hypertension Feeding difficulties in infancy Ptosis Abnormality of the kidney Cataract Cirrhosis Nephropathy Hypertelorism Ataxia Dilatation

Rare Symptoms - Less than 30% cases

Renal tubular acidosis Chorioretinal atrophy Vesicoureteral reflux Specific learning disability Acute pancreatitis Hypertriglyceridemia Pericardial effusion Flat face Hypercholesterolemia Ragged-red muscle fibers Pancreatitis Dilated cardiomyopathy Prolonged neonatal jaundice Coarctation of aorta Limb muscle weakness Albuminuria Hepatic steatosis Cyanosis Abnormal chorioretinal morphology Cardiomegaly Decreased liver function Exercise intolerance Left ventricular hypertrophy Wide anterior fontanel Leukodystrophy Cognitive impairment Posterior embryotoxon Horizontal nystagmus Pulmonic stenosis Deeply set eye Conductive hearing impairment Hypergonadotropic hypogonadism Decreased glomerular filtration rate Cryptorchidism Intellectual disability, mild Hypothyroidism Photophobia Corneal opacity Aciduria Polyuria Aminoaciduria Microcephaly Nausea Kyphosis Hypogonadism Dyspnea Tubulointerstitial fibrosis Depressed nasal bridge Nephrotic syndrome Clinodactyly Ophthalmoplegia Severe muscular hypotonia Fever Hepatosplenomegaly Upslanted palpebral fissure Delayed skeletal maturation Nephritis Hypokalemia Motor delay Ventricular septal defect Protruding ear Triangular face Dehydration Abnormality of the skeletal system Stroke Scarring Abnormal pyramidal sign Multiple small medullary renal cysts Hepatic fibrosis Aplasia/Hypoplasia of the corpus callosum Chronic kidney disease Abnormality of neuronal migration Esophageal varix Cholestatic liver disease Intrahepatic biliary atresia Retinal dystrophy Abnormal facial shape Peripheral neuropathy Intrauterine growth retardation Dysphagia Talipes equinovarus Respiratory distress Renal cyst Abnormality of eye movement Myopathy Frontal bossing Pallor Spasticity Scoliosis Downslanted palpebral fissures Gait disturbance Anteverted nares Abnormality of the eye Intellectual disability, severe Splenomegaly Cerebellar hypoplasia Polydactyly Abnormality of the nervous system Apnea Atrial septal defect Aplasia/Hypoplasia of the cerebellum Cerebellar atrophy Irritability Proximal muscle weakness Dystonia Myalgia Pneumonia Kyphoscoliosis Myoclonus Hypotrichosis Glue ear Unilateral breast hypoplasia Hypermetropia Carious teeth Cough Dilatation of the bladder Infertility Thickened ears Generalized tonic-clonic seizures Autistic behavior Nyctalopia Sparse hair Retinal degeneration Recurrent cystitis Respiratory tract infection Postnatal growth retardation Pes planus Gastroesophageal reflux Widely-spaced incisors Autism Weight loss Hyperkeratosis Abdominal pain Diabetes mellitus Abnormal retinal artery morphology Dry skin Granular macular appearance Lymphadenopathy Pulmonary arterial hypertension Short toe Gynecomastia Sinusitis Hyperpigmentation of the skin Chronic active hepatitis Insulin resistance Abnormality of retinal pigmentation Anorexia Chronic diarrhea Hyperostosis frontalis interna Thickened skin Recurrent urinary tract infections Involuntary movements Recurrent otitis media Epidermal acanthosis Rod-cone dystrophy Type II diabetes mellitus Hepatitis Progressive visual loss Decreased testicular size Otitis media Growth hormone deficiency Urinary incontinence Asthma Abdominal distention Receptive language delay Ascites Sleep disturbance Hirsutism Tachycardia Hyperhidrosis Depressivity Recurrent respiratory infections Protruding tongue Labial hypoplasia Redundant neck skin Abnormality of the helix Breech presentation Thickened nuchal skin fold Bell-shaped thorax Adrenal hypoplasia External ear malformation Epiphyseal stippling Primary adrenal insufficiency Localized hirsutism Vitreous haze Underdeveloped supraorbital ridges Congenital glaucoma Profound global developmental delay Abnormality of coagulation Metatarsus adductus Flat occiput Rocker bottom foot Clitoral hypertrophy Cubitus valgus Pyloric stenosis Polycystic kidney dysplasia Abnormal electroretinogram Reduced tendon reflexes Intellectual disability, progressive Opacification of the corneal stroma Low-set ears Rhizomelia Abnormality of the mitochondrion Ulnar deviation of the hand Alopecia Very long chain fatty acid accumulation Constipation Increased body weight Obesity Behavioral abnormality Abnormality of the dentition Precocious puberty in females Short neck Delayed speech and language development Pain Hypoplastic olfactory lobes Intrahepatic biliary dysgenesis Sudanophilic leukodystrophy EEG with occipital slowing Elevated long chain fatty acids Tapetoretinal degeneration Subependymal cysts Hyperoxaluria Brushfield spots Abnormality of prothrombin Renal cortical microcysts Abnormality of renal calyx morphology Renal cortical cysts Ulnar deviation of the hand or of fingers of the hand Widely patent fontanelles and sutures Glutaric aciduria Intestinal lymphangiectasia Brachyturricephaly Abnormality of the tongue Hepatic cysts Recurrent pneumonia Accelerated skeletal maturation Generalized hirsutism Ovarian cyst Urinary retention Arteriosclerosis Elevated C-reactive protein level Multifocal atrial tachycardia Testicular atrophy Abnormal left ventricle morphology Abnormal renal physiology Disinhibition Retinal pigment epithelial atrophy Endocardial fibroelastosis Abnormal renal morphology Menstrual irregularities Decreased HDL cholesterol concentration High-frequency hearing impairment Pyelonephritis Restrictive cardiomyopathy Childhood-onset truncal obesity Chronic obstructive pulmonary disease Chronic fatigue Myocardial fibrosis Male hypogonadism Oligospermia Myocarditis Tubular atrophy Recurrent bronchitis Acute hepatic failure Elevated serum creatinine High-frequency sensorineural hearing impairment Poor fine motor coordination Chills Attenuation of retinal blood vessels Abnormality of the urethra Abnormality of the pituitary gland Urethral obstruction Squared iliac bones Renovascular hypertension Abnormal muscle tone Hepatic necrosis Female hypogonadism Impaired temperature sensation Urethral stricture Epigastric pain Facial hirsutism Abnormality of dental color Lumbar scoliosis Chronic infection Achromatopsia Abnormal spermatogenesis Abnormality of the optic disc First degree atrioventricular block Melena Hematemesis Frontal balding Increased total bilirubin ST segment depression Vertical nystagmus Bull's eye maculopathy Multinodular goiter Abnormality of female external genitalia Hepatic encephalopathy Urethral stenosis Right ventricular hypertrophy Tubulointerstitial nephritis Hypogonadotrophic hypogonadism Hyperinsulinemia Glucose intolerance Diabetes insipidus Hyperglycemia Hyperostosis Acne Impaired vibratory sensation Constriction of peripheral visual field Obsessive-compulsive behavior Chronic otitis media Hypoplasia of dental enamel Lipodystrophy Exudative retinopathy Nonproductive cough Precocious puberty Pulmonary fibrosis Elevated alkaline phosphatase Abnormal adipose tissue morphology Cholelithiasis Abnormality of the hand Polycystic ovaries Goiter Cone/cone-rod dystrophy Tachypnea Hyperlipidemia Atherosclerosis Acanthosis nigricans Macular degeneration Hypoplastic male external genitalia Absence seizures Emphysema Hydroureter Pendular nystagmus Severe sensorineural hearing impairment Gingivitis Ketoacidosis Broad foot Posterior subcapsular cataract Oligomenorrhea Poor coordination Hyperventilation Alopecia of scalp Peripheral visual field loss Retinal atrophy Insulin-resistant diabetes mellitus Increased circulating androgen level Hypoventilation Autoimmune thrombocytopenia Urinary urgency Thoracic scoliosis Pericarditis Subcapsular cataract Increased number of teeth Hyperuricemia Bronchitis Glycosuria Glomerulopathy Progressive sensorineural hearing impairment Agenesis of permanent teeth Short finger Polyphagia Abnormal retinal morphology Truncal obesity Large fontanelles Butterfly vertebral arch Pachygyria Frequent falls Polyhydramnios Abnormal pattern of respiration Aplasia/Hypoplasia of the cerebellar vermis Distal upper limb amyotrophy Mild proteinuria Distal lower limb amyotrophy Onion bulb formation Axonal loss Focal segmental glomerulosclerosis Steppage gait Hammertoe Glomerulonephritis Foot dorsiflexor weakness Split hand Small for gestational age Sensory impairment Distal sensory impairment Distal amyotrophy Falls Distal muscle weakness Pes cavus Hypoplasia of the ciliary body Posterior lenticonus Microcoria Lenticonus Congenital nephrotic syndrome Diffuse mesangial sclerosis Buphthalmos Congenital hepatic fibrosis Postural instability Hypoplasia of the iris Hypokalemic alkalosis Molar tooth sign on MRI Nephronophthisis Reduced renal corticomedullary differentiation Hypokalemic hypochloremic metabolic alkalosis Hypochloremic metabolic alkalosis Global glomerulosclerosis Hyperchloriduria Fetal polyuria Hypochloremia Increased urinary potassium Mesangial hypercellularity Hypernatriuria Hypokalemic metabolic alkalosis Occipital encephalocele Abnormality of the hypothalamus-pituitary axis Biparietal narrowing Metabolic alkalosis Alkalosis Abnormally large globe Renal salt wasting Hyperaldosteronism Abnormality of abdomen morphology Congenital sensorineural hearing impairment Hyponatremia Optic nerve coloboma Hypercalciuria Neoplasm of the liver Hydrops fetalis Nephrolithiasis Hypoproteinemia Severe vision loss Chorioretinal coloboma Muscular hypotonia of the trunk Leukoencephalopathy Shock Hernia Cardiac arrest Aspiration Babinski sign Ventricular hypertrophy Hypoglycemia Congenital diaphragmatic hernia Hypertrophic cardiomyopathy Febrile seizures Increased serum lactate Migraine Brain atrophy Oral-pharyngeal dysphagia Gliosis Generalized myoclonic seizures Progressive cerebellar ataxia Abnormal cerebellum morphology Coma Metabolic acidosis Mental deterioration Dyskinesia Developmental regression Lactic acidosis Talipes Abnormality of movement Lethargy Severe global developmental delay Incoordination Adrenal insufficiency Neurodevelopmental delay Stiff neck Anemia Exercise-induced lactic acidemia Acute necrotizing encephalopathy Abnormal mitochondria in muscle tissue Congenital lactic acidosis Necrotizing encephalopathy Progressive macrocephaly Cardiogenic shock Macrovesicular hepatic steatosis Infantile encephalopathy Biventricular hypertrophy Axial dystonia Decreased activity of mitochondrial respiratory chain Cerebral edema Global brain atrophy Severe lactic acidosis Corpus callosum atrophy Wolff-Parkinson-White syndrome Increased CSF lactate Nemaline bodies Aspiration pneumonia Cardiorespiratory arrest Mitochondrial myopathy Progressive encephalopathy Optic neuropathy Basal ganglia calcification Weak cry Poor eye contact Progressive spasticity Headache Oculomotor apraxia Heterotopia Long nose Thyroid carcinoma Peripheral arterial stenosis Intrahepatic cholestasis Coronal craniosynostosis Pulmonary artery stenosis Abnormality of the vasculature Dilatation of the cerebral artery Hepatocellular carcinoma Exocrine pancreatic insufficiency Abnormality of the ureter Keratoconus Telangiectasia of the skin Tremor Vertebral segmentation defect Peripheral pulmonary artery stenosis Malnutrition Hypoplasia of the ulna Heart murmur Renal hypoplasia/aplasia Corneal dystrophy Spina bifida occulta Finger clinodactyly Hemivertebrae Pointed chin Abnormal vertebral morphology Lymphedema Exotropia Renal dysplasia Abnormal pupil morphology Fat malabsorption Renal hypoplasia Malar flattening Macroglossia Single transverse palmar crease High, narrow palate Pulmonary hypoplasia Polymicrogyria Abnormality of the pinna Hydronephrosis EEG abnormality Skeletal dysplasia High forehead Glaucoma Posteriorly rotated ears Hypospadias Wide nasal bridge Hypopigmentation of the fundus Epicanthus High palate Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Renal artery stenosis Vitamin D deficiency Axenfeld anomaly Papillary thyroid carcinoma Band keratopathy Biliary atresia Abnormal anterior chamber morphology Butterfly vertebrae Arterial stenosis Abnormal form of the vertebral bodies Abnormality of the ribs Stereotypy Arrhythmia Dysphonia Easy fatigability Respiratory insufficiency due to muscle weakness External ophthalmoplegia Primary amenorrhea Amenorrhea Generalized muscle weakness Highly arched eyebrow Intestinal malrotation Facial palsy Postaxial hand polydactyly Apraxia Elevated serum creatine phosphokinase Recurrent infections Generalized amyotrophy Cerebellar vermis hypoplasia Diarrhea Encephalocele Elevated intracellular cystine Retinal pigment epithelial mottling Nephrogenic diabetes insipidus Corneal crystals Renal tubular dysfunction Dysphasia Hypophosphatemia Rickets Growth abnormality Cranial nerve paralysis Type I diabetes mellitus Nasal speech Spinal rigidity Tetralogy of Fallot Carcinoma Hydrocephalus Prominent nose Hypodontia Microcornea Hypopigmentation of the skin Short distal phalanx of finger Abnormality of skin pigmentation Anal atresia Inguinal hernia Pruritus Broad forehead Short philtrum Craniosynostosis Intellectual disability, moderate Progressive external ophthalmoplegia Coarse facial features Macrotia Brachycephaly Clinodactyly of the 5th finger Wide mouth Coloboma Prominent nasal bridge Myopia Oral cleft Long face Iris coloboma Neoplasm Spinal deformities Proximal amyotrophy Abnormality of the femoral head


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Generalized myoclonic seizures, related diseases and genetic alterations Macrocephaly and Hirsutism, related diseases and genetic alterations Myopathy and Decreased fetal movement, related diseases and genetic alterations Intellectual disability and Hypoglycemia, related diseases and genetic alterations Neoplasm and Dysphagia, related diseases and genetic alterations Failure to thrive and Hepatosplenomegaly, related diseases and genetic alterations