Hyperreflexia, and Ichthyosis

Diseases related with Hyperreflexia and Ichthyosis

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


Top matches:

Low match SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A


The hereditary spastic paraplegias are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997).SPG is classified according to both the mode of inheritance (autosomal dominant, autosomal recessive (see {270800}), and X-linked (see {303350})) and whether progressive spasticity occurs in isolation ('uncomplicated SPG') or with other neurologic abnormalities ('complicated SPG'), including optic neuropathy, retinopathy, extrapyramidal disturbance, dementia, ataxia, ichthyosis, mental retardation, and deafness. The major neuropathologic feature of autosomal dominant, uncomplicated SPG is axonal degeneration that is maximal in the terminal portions of the longest descending and ascending tracts (crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis, respectively). Spinocerebellar fibers are involved to a lesser extent. Since the description of 'pure' hereditary spastic paraparesis of late onset by Strumpell (1904), many 'complicated' forms of the disorder have been reported and the question as to whether a 'pure' form exists has been raised off and on. Probably in large part because of their exceptional length, the pyramidal tracts are unusually vulnerable to both acquired and genetic derangement. Although a majority of reported families have displayed recessive inheritance, 10 to 30% of families have a dominant pattern and in fact recessive inheritance of a 'pure' spastic paraplegia may be rare. Genetic Heterogeneity of Autosomal Dominant Spastic ParaplegiaIn addition to SPG3A, other forms of autosomal dominant spastic paraplegia for which the molecular basis is known include SPG4 (OMIM ), caused by mutation in the SPAST gene (OMIM ) on 2p22; SPG6 (OMIM ), caused by mutation in the NIPA1 gene (OMIM ) on 15q11; SPG8 (OMIM ), caused by mutation in the KIAA0196 gene (OMIM ) on 8q24; SPG9A (OMIM ), caused by mutation in the ALDH18A1 gene (OMIM ) on 10q24; SPG10 (OMIM ), caused by mutation in the KIF5A gene (OMIM ) on 12q13; SPG12 (OMIM ), caused by mutation in the RTN2 gene (OMIM ) on 19q13; SPG13 (OMIM ), caused by mutation in the SSPD1 gene (OMIM ) on 2q33.1; SPG31 (OMIM ), caused by mutation in the REEP1 gene (OMIM ) on 2p11; SPG33 (OMIM ), caused by mutation in the ZFYVE27 gene (OMIM ) on 10q24; SPG72 (OMIM ), caused by mutation in the REEP2 gene (OMIM ) on 5q31; and SPG73 (OMIM ), caused by mutation in the CPT1C gene (OMIM ) on 19q13.Autosomal dominant spastic paraplegia has been mapped to chromosomes 9q (SPG19 ), 1p31-p21 (SPG29 ), 12q23-q24 (SPG36 ), 8p21.1-q13.3 (SPG37 ), 4p16-p15 (SPG38 ), and 11p14.1-p11.2 (SPG41 ).

SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A Is also known as spg3|fsp1|strumpell disease|familial spastic paraplegia, autosomal dominant, 1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

Low match TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1


Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of TrichothiodystrophyAlso see TTD2 (OMIM ), caused by mutation in the ERCC3/XPB gene (OMIM ); TTD3 (OMIM ), caused by mutation in the GTF2H5 gene (OMIM ); TTD4 (OMIM ), caused by mutation in the MPLKIP gene (OMIM ); TTD5 (OMIM ), caused by mutation in the RNF113A gene (OMIM ); and TTD6 (OMIM ), caused by mutation in the GTF2E2 gene (OMIM ).

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 Is also known as ttdp|ichthyosiform erythroderma with hair abnormality and mental and growth retardation|trichothiodystrophy, photosensitive|trichothiodystrophy with congenital ichthyosis|ichthyosis, congenital, with trichothiodystrophy|pibids syndrome|tay syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

Low match LINEAR NEVUS SEBACEUS SYNDROME


Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).

LINEAR NEVUS SEBACEUS SYNDROME Is also known as linear sebaceous nevus syndrome|jnp|sfm syndrome|solomon syndrome|epidermal nevus syndrome, formerly|sebaceous nevus syndrome, linear|nevus sebaceus of jadassohn|jadassohn nevus phakomatosis|nevus sebaceus syndrome|schimmelpenning syndrome|organoid nevus

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LINEAR NEVUS SEBACEUS SYNDROME

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Other less relevant matches:

Low match MULTIPLE SULFATASE DEFICIENCY


Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.

MULTIPLE SULFATASE DEFICIENCY Is also known as sulfatidosis, juvenile, austin type|mucosulfatidosis|juvenile sulfatidosis, austin type|msd

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE SULFATASE DEFICIENCY

Low match FETAL GAUCHER DISEASE


Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).

FETAL GAUCHER DISEASE Is also known as perinatal lethal gaucher disease|gaucher disease, collodion type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FETAL GAUCHER DISEASE

Low match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2


Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Low 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

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low match MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY


Megaconial-type congenital muscular dystrophy is an autosomal recessive disorder characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011).

MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY Is also known as muscular dystrophy, congenital, with mitochondrial structural abnormalities|congenital megaconial myopathy|congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect|congenital muscular dystrophy with mitochondrial structural abnormaliti

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY

Low match MCLEOD SYNDROME; MCLDS


Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

Top 5 symptoms//phenotypes associated to Hyperreflexia and Ichthyosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Hyperreflexia and Ichthyosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Pneumonia Anemia Ventriculomegaly Hearing impairment Neonatal hypotonia Developmental regression Hypertelorism Hepatosplenomegaly Skeletal muscle atrophy Growth delay Splenomegaly Anteverted nares Generalized hypotonia Apnea Cognitive impairment Delayed speech and language development Muscle weakness Spasticity Cardiomegaly Blindness Respiratory distress Nystagmus Areflexia Alopecia Hypogonadism Hyperkeratosis Retrognathia Malabsorption Peripheral neuropathy Motor delay Muscular hypotonia Visual impairment Dilated cardiomyopathy Cerebral atrophy Cerebellar atrophy Dysphagia Depressed nasal bridge High palate Abnormal facial shape Sensorineural hearing impairment Cerebral calcification Overgrowth Attention deficit hyperactivity disorder Ataxia Cardiorespiratory arrest Cataract Elevated serum creatine phosphokinase Gingival overgrowth Myoclonus Intellectual disability, mild Cardiomyopathy Polyneuropathy Myopathy Generalized-onset seizure Atrial septal defect

Rare Symptoms - Less than 30% cases


Ophthalmoplegia Generalized myoclonic seizures Dysmetria Bilateral sensorineural hearing impairment Talipes equinovarus Fever Mental deterioration Cerebral cortical atrophy Dysarthria Mitral valve prolapse Micropenis EEG abnormality Stroke Hypothyroidism Hydrocephalus Abnormality of the eye Diabetes mellitus Recurrent fractures Macrocephaly Optic atrophy Corneal opacity Progressive neurologic deterioration Cerebral visual impairment Aspiration pneumonia Seborrheic dermatitis Rhabdomyolysis Prominent occiput Aplasia/Hypoplasia of the cerebellum Reduced tendon reflexes Plagiocephaly Failure to thrive Ptosis Flat face Abnormality of peripheral nerve conduction Abnormality of retinal pigmentation Abnormality of the liver Jaundice Atrial fibrillation Low-set, posteriorly rotated ears Dystonia Camptodactyly Abnormality of the pinna Arthrogryposis multiplex congenita Dyspnea Abnormality of eye movement Hepatic failure Depressivity Purpura Distal arthrogryposis Arrhythmia Hyporeflexia Polyhydramnios Short neck Developmental stagnation Edema EMG abnormality Anxiety Posteriorly rotated ears Micrognathia Hypertrichosis Delayed puberty Respiratory insufficiency Cerebellar hypoplasia Aspiration Patent ductus arteriosus Encephalopathy Hypertonia Short nose Delayed skeletal maturation Narrow mouth Proptosis Type I diabetes mellitus Coarse facial features Frontal bossing Confusion Intestinal obstruction Macular degeneration Telangiectasia Abnormality of the face Small nail Protruding ear Photophobia Microphthalmia Strabismus Neoplasm Muscular dystrophy Growth abnormality Clonus Peripheral axonal neuropathy Abnormality of the cerebral white matter Congenital ichthyosiform erythroderma Nyctalopia Retinopathy Abnormality of the nervous system Dementia Rod-cone dystrophy Constipation Babinski sign Visual loss Obesity Syndactyly Hypoplasia of the corpus callosum Fatigue Gait disturbance Tremor Basal cell carcinoma Amenorrhea Congenital nonbullous ichthyosiform erythroderma Drowsiness Chorea Congestive heart failure Gowers sign Congenital muscular dystrophy Diarrhea Vomiting Mildly elevated creatine phosphokinase Difficulty standing Mitochondrial depletion Behavioral abnormality Dyskinesia Posterior subcapsular cataract Transient ischemic attack Obsessive-compulsive behavior Infantile muscular hypotonia Abnormality of the musculature Hypertension Feeding difficulties Motor axonal neuropathy Pain Delusions Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Acanthocytosis Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Snoring Abnormality of the dentition Renal insufficiency Kyphosis Feeding difficulties in infancy Paresthesia Anal atresia Nausea and vomiting Carious teeth Congenital cataract Lethargy Generalized tonic-clonic seizures Pruritus Facial palsy Mitochondrial myopathy Progressive external ophthalmoplegia Neurological speech impairment Erythema Hypertrophic cardiomyopathy Panniculitis Proteinuria Poor speech Myalgia Gastroesophageal reflux Acidosis Autism Weight loss Gait ataxia Abdominal pain Osteoporosis Falls Waddling gait Frequent falls Headache Episcleritis Facial telangiectasia Lactic acidosis Visual hallucinations Aortic dissection Personality disorder Hyperglycemia Stridor Psoriasiform dermatitis Stroke-like episode Lipodystrophy Sleep apnea Azoospermia Osteolysis Renal tubular dysfunction Tubulointerstitial nephritis Anterior hypopituitarism Increased CSF lactate Hallux valgus Elbow flexion contracture Hypergonadotropic hypogonadism Wolff-Parkinson-White syndrome Gynecomastia Hyperpigmentation of the skin Bronchiectasis Cerebral ischemia Primary amenorrhea Gait imbalance Hypertriglyceridemia Blue sclerae Epistaxis Epidermal acanthosis Abetalipoproteinemia Leukocytosis Increased antibody level in blood Myelofibrosis Nasal obstruction Generalized lymphadenopathy Facial diplegia Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Retinal pigment epithelial atrophy Tics Chronic rhinitis Reticulocytopenia Histiocytosis Skin nodule Recurrent pharyngitis Elevated erythrocyte sedimentation rate Decreased serum testosterone level Communicating hydrocephalus Varicose veins Speech apraxia Abnormal eyebrow morphology Enlarged kidney Exocrine pancreatic insufficiency Severe sensorineural hearing impairment Episodic fever Left ventricular failure Polycythemia Scleroderma Lipoatrophy Microcytic anemia Vertigo Nausea Pulmonary embolism Hemianopia Writer's cramp Hashimoto thyroiditis Persistence of primary teeth Leber optic atrophy Aortic aneurysm Abnormality of visual evoked potentials Spontaneous hematomas Gastroparesis Amaurosis fugax Auditory hallucinations Hemiplegia Abnormality of the renal tubule Abnormal nerve conduction velocity Renal Fanconi syndrome Atopic dermatitis Neonatal hypoglycemia Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Tubulointerstitial abnormality Cachexia Psychotic episodes Atrioventricular block Chronic kidney disease Easy fatigability Vitiligo Hyperkinesis Abnormality of the cerebellar vermis Goiter Muscle fiber atrophy Psychomotor deterioration Mutism Visual field defect Primary adrenal insufficiency Episodic vomiting Abnormality of immune system physiology Motor polyneuropathy Thyroiditis Dysesthesia Hyperthyroidism Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Hyperkalemia Abnormality of mitochondrial metabolism Dysphasia Vestibular dysfunction Aphasia Bundle branch block Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Personality changes Ophthalmoparesis Hyponatremia Schizophrenia Hypopigmented skin patches Polymicrogyria Reduced consciousness/confusion Abnormality of acid-base homeostasis Episodic quadriplegia Bilateral intracranial calcifications Ventricular hypertrophy Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Prominent ear helix Psychosis Status epilepticus Pulmonary arterial hypertension Type II diabetes mellitus Nephrotic syndrome Abnormality of the cardiovascular system Specific learning disability Abnormal cochlea morphology Hip dysplasia Memory impairment Increased serum lactate Hyperactivity Migraine Sensory impairment Sudden cardiac death Abnormal cerebellum morphology Muscle cramps Postural instability Coma Proximal muscle weakness Nephropathy Hirsutism Homonymous hemianopia Paralytic ileus Ischemic stroke Left ventricular hypertrophy Ragged-red muscle fibers External ophthalmoplegia Pancreatitis Crohn's disease Exercise intolerance Hypogonadotrophic hypogonadism Generalized hirsutism Hemeralopia Abnormal macular morphology Truncal ataxia Cardiac arrest Hallucinations Anorexia Spotty hypopigmentation Abnormal mitochondrial shape Paronychia Abnormal mitochondrial morphology Decreased body weight Edema of the dorsum of hands Involuntary movements Cochlear malformation Xerostomia Heart block Progressive night blindness Ileus Hemiparesis Proximal tubulopathy Hypoparathyroidism Cochlear degeneration Pigmentary retinopathy Short distal phalanx of finger Decreased testicular size Pachygyria Irregular hyperpigmentation Osteomalacia Biparietal narrowing Neurofibromas Vertebral segmentation defect Abnormality of dental morphology Melanocytic nevus Rickets Precocious puberty Abnormality of vision Hemangioma Aplasia/Hypoplasia of the corpus callosum Horseshoe kidney Exotropia Coarctation of aorta Genu recurvatum Telecanthus Lack of subcutaneous fatty tissue Dilatation Agenesis of corpus callosum Kyphoscoliosis Osteopenia Carcinoma Coloboma Dandy-Walker malformation Facial asymmetry Talipes Iris coloboma Hypopigmentation of the skin Generalized muscle weakness Nevus Dilatation of the cerebral artery Gangrene Jerky ocular pursuit movements Nevus sebaceus Lower limb hyperreflexia Broad hallux Coarse hair Leukodystrophy Broad thumb Peripheral demyelination Neurodegeneration Thick eyebrow Retinal degeneration Smooth philtrum Skin rash Joint stiffness Prominent forehead Abnormality of the skeletal system Linear nevus sebaceous Abnormality of finger Adenoma sebaceum Hemihypertrophy Hyperphosphaturia Hypophosphatemic rickets Porencephalic cyst Cavernous hemangioma Asymmetric growth Abnormality of dental color Odontogenic neoplasm Cranial asymmetry Hemimegalencephaly Epidermal nevus Nevus sebaceous Abnormality of toe Odontoma Tiger tail banding Abnormality of hair texture Increased CSF protein Increased body weight Taurodontia Urinary bladder sphincter dysfunction Poor coordination Optic neuropathy Impaired vibration sensation in the lower limbs Progressive spasticity Axonal degeneration Urinary urgency Impaired vibratory sensation Postural tremor Hand polydactyly Cerebral palsy Spastic paraparesis Paraparesis Spastic gait Neurogenic bladder Paraplegia Scoliosis Pes cavus Paralysis Spastic paraplegia Limb muscle weakness Infertility Lower limb muscle weakness Decreased liver function Sensory neuropathy Tetraplegia Urinary incontinence Spastic tetraplegia Clumsiness Lower limb spasticity Distal lower limb amyotrophy Degeneration of the lateral corticospinal tracts Titubation Alopecia of scalp Squamous cell carcinoma Spastic diplegia Decreased fertility Freckling Keratoconjunctivitis sicca Hyperactive deep tendon reflexes IgG deficiency Abnormality of the thorax Fragile nails Progeroid facial appearance Woolly hair Pili torti Corneal neovascularization Trichorrhexis nodosa Erythroderma Brittle hair Long-tract signs Asthma Recurrent infections Sparse hair Small for gestational age Nail dystrophy Dry skin Microcornea Decreased antibody level in blood Dysphonia Nail dysplasia Eczema Cutaneous photosensitivity Fine hair Chronic diarrhea Increased bone mineral density Abnormality of the periventricular white matter Dysostosis multiplex Wide intermamillary distance Epileptic encephalopathy Scaling skin Redundant skin Elevated alkaline phosphatase Deep philtrum Widely spaced teeth Multicystic kidney dysplasia Tall stature Postnatal microcephaly Large fontanelles Inflammatory abnormality of the skin Hypsarrhythmia Limb undergrowth Microdontia Neuronal loss in central nervous system Webbed neck Large for gestational age Wide mouth Long philtrum Malar flattening Absent speech Upslanted palpebral fissure Respiratory failure Muscular hypotonia of the trunk Cirrhosis Vesicoureteral reflux Wide nose Downturned corners of mouth Hemolytic anemia Sepsis Gliosis Delayed myelination Overfolded helix Infantile spasms Mild fetal ventriculomegaly Abnormal cardiac septum morphology Clinodactyly Abnormal heart morphology Severe short stature Pes planus Conductive hearing impairment Abnormality of the kidney Pectus carinatum Ventricular septal defect Hypotrichosis Abnormality of the foot Lymphadenopathy Cleft upper lip Full cheeks Growth hormone deficiency Hernia Wide nasal bridge Absent septum pellucidum Duplicated collecting system Central hypotonia Epileptic spasms Pierre-Robin sequence High anterior hairline Breech presentation Hemoglobinuria Micronodular cirrhosis Brachydactyly Triangular mouth Alveolar ridge overgrowth Olfactory lobe agenesis Birth length greater than 97th percentile Abnormality of the pons Epicanthus Cleft palate Enlarged fetal cisterna magna Large forehead Everted lower lip vermilion Hydrops fetalis Thickened skin Open mouth Depressed nasal ridge Interphalangeal joint contracture of finger Pancytopenia Decreased fetal movement Oligohydramnios Underdeveloped nasal alae Premature birth Abnormal bleeding Triangular face Ascites Metabolic acidosis High, narrow palate Poor suck Retrocerebellar cyst Broad hallux phalanx Olivopontocerebellar atrophy CNS demyelination Periorbital edema Mucopolysacchariduria Hypoplastic vertebral bodies Urinary glycosaminoglycan excretion Pulmonary hypoplasia Rapid neurologic deterioration Low-set ears Intrauterine growth retardation Thrombocytopenia Elevated hepatic transaminase Microtia Knee flexion contracture Intracranial hemorrhage Abnormality of the microglia Myocardial necrosis Extramedullary hematopoiesis Everted upper lip vermilion Generalized hyperkeratosis Severe hydrops fetalis Abnormality of the spinal cord Hepatic necrosis Desquamation of skin soon after birth Astrocytosis Sudden episodic apnea Decreased beta-glucocerebrosidase protein and activity Abnormal pupillary function Abnormality of the small intestine Low voltage EEG Hydropic placenta Pneumothorax Abnormality of the spleen Ectropion Thoracic hypoplasia Congenital contracture Pleural effusion Apathy Akinesia Neonatal respiratory distress Multiple joint contractures Abnormality of coagulation Abnormality of the larynx Opisthotonus Petechiae Hypokinesia Fetal akinesia sequence Nonimmune hydrops fetalis Overlapping fingers Phonic tics



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